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Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls.
S0185106316300798
Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
Keywords GJB2 gene Hypoacusia Gene mutations Connexins Homozygous
Abstract Background <dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>. Materials and methods A Mexican family with <dis>SNHL</dis> was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.
Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.
Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>. Materials and methods A Mexican family with <dis>SNHL</dis> was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls.
[ { "offsets": [ 111, 115 ], "text": "SNHL", "type": "DISABILITY" }, { "offsets": [ 161, 165 ], "text": "SNHL", "type": "DISABILITY" } ]
Abstract Introduction We used data from the Global Burden of Disease, Injuries, and Risk Factors Study 2010 to report on the burden of neuropsychiatric disorders in Spain. Materials and methods The summary measure of burden used in the study was the disability-adjusted life-year (DALY), which sums of the years of life lost due to premature mortality (YLLs) and the years lived with disability (YLDs).
S1888989114001050
The Spanish Burden of Disease 2010: Neurological, mental and substance use disorders
Keywords Burden of disease Neurological disorders Mental disorders Substance use disorders Disability-adjusted life-years Spain
Abstract Introduction We used data from the Global Burden of Disease, Injuries, and Risk Factors Study 2010 to report on the burden of <dis>neuropsychiatric disorders</dis> in Spain. Materials and methods The summary measure of burden used in the study was the disability-adjusted life-year (DALY), which sums of the years of life lost due to premature mortality (YLLs) and the years lived with disability (YLDs). DALYs were adjusted for comorbidity and estimated with 95% uncertainty intervals. Results The burden of <dis>neuropsychiatric disorders</dis> accounted for 18.4% of total all- cause DALYs generated in Spain for 2010. Within this group, the top five leading causes of DALYs were: depressive disorders, Alzheimer's disease, migraine, substance-use disorders, and anxiety disorder, which accounted for 70.9% of all DALYs due to <dis>neuropsychiatric disorders</dis>. Neurological disorders represented 5.03% of total all cause YLLs, whereas <dis>mental and substance-use disorders</dis> accounted for 0.8%. <dis>Mental and substance-use disorders</dis> accounted for 22.4% of total YLDs, with depression being the most disabling disorder. Neurological disorders represented 8.3% of total YLDs. Conclusions <dis>Neuropsychiatric disorders</dis> were one of the leading causes of disability in 2010. This finding contributes to our understanding of the burden of <dis>neuropsychiatric disorders</dis> in the Spanish population and highlights the importance of prioritising <dis>neuropsychiatric disorders</dis> in the Spanish public health system.
Abstract Introduction We used data from the Global Burden of Disease, Injuries, and Risk Factors Study 2010 to report on the burden of neuropsychiatric disorders in Spain. Materials and methods The summary measure of burden used in the study was the disability-adjusted life-year (DALY), which sums of the years of life lost due to premature mortality (YLLs) and the years lived with disability (YLDs). DALYs were adjusted for comorbidity and estimated with 95% uncertainty intervals. Results The burden of neuropsychiatric disorders accounted for 18.4% of total all- cause DALYs generated in Spain for 2010. Within this group, the top five leading causes of DALYs were: depressive disorders, Alzheimer's disease, migraine, substance-use disorders, and anxiety disorder, which accounted for 70.9% of all DALYs due to neuropsychiatric disorders. Neurological disorders represented 5.03% of total all cause YLLs, whereas mental and substance-use disorders accounted for 0.8%. Mental and substance-use disorders accounted for 22.4% of total YLDs, with depression being the most disabling disorder. Neurological disorders represented 8.3% of total YLDs. Conclusions Neuropsychiatric disorders were one of the leading causes of disability in 2010. This finding contributes to our understanding of the burden of neuropsychiatric disorders in the Spanish population and highlights the importance of prioritising neuropsychiatric disorders in the Spanish public health system.
Abstract Introduction We used data from the Global Burden of Disease, Injuries, and Risk Factors Study 2010 to report on the burden of <dis>neuropsychiatric disorders</dis> in Spain. Materials and methods The summary measure of burden used in the study was the disability-adjusted life-year (DALY), which sums of the years of life lost due to premature mortality (YLLs) and the years lived with disability (YLDs).
[ { "offsets": [ 136, 162 ], "text": "neuropsychiatric disorders", "type": "DISABILITY" } ]
Abstract Anaemia is common in the elderly and is associated with an increased risk of physical, functional, and cognitive impairment, hospitalisation and mortality. Although it is unknown whether anaemia is a causal factor or a subrogated marker of worse health status, its correction can improve the patients’ physical and functional capacity. Detection, classification, and treatment of anaemia should be a priority for the health system.
S0025775317305110
Anaemia in the elderly
Keywords Anaemia Elderly Nutritional deficiencies Erythropoietin Inflammation Indeterminate anaemia
Abstract Anaemia is common in the elderly and is associated with an increased risk of <dis>physical, functional, and cognitive impairment</dis>, hospitalisation and mortality. Although it is unknown whether anaemia is a causal factor or a subrogated marker of worse health status, its correction can improve the patients’ physical and functional capacity. Detection, classification, and treatment of anaemia should be a priority for the health system. The main causes of anaemia in the elderly are nutritional deficiencies and chronic disease, with or without kidney failure, although some cases are of indeterminate origin. Medical history and physical examination help to clarify its aetiology. A diagnostic algorithm based on data from the lab allows anaemia classification with a therapeutic orientation. Supplements of iron and maturation factors, as well as erythropoiesis-stimulating agents, constitute the mainstay of treatment, along with that of the underlying disease, whereas red blood cell transfusion should be reserved for severe cases.
Abstract Anaemia is common in the elderly and is associated with an increased risk of physical, functional, and cognitive impairment, hospitalisation and mortality. Although it is unknown whether anaemia is a causal factor or a subrogated marker of worse health status, its correction can improve the patients’ physical and functional capacity. Detection, classification, and treatment of anaemia should be a priority for the health system. The main causes of anaemia in the elderly are nutritional deficiencies and chronic disease, with or without kidney failure, although some cases are of indeterminate origin. Medical history and physical examination help to clarify its aetiology. A diagnostic algorithm based on data from the lab allows anaemia classification with a therapeutic orientation. Supplements of iron and maturation factors, as well as erythropoiesis-stimulating agents, constitute the mainstay of treatment, along with that of the underlying disease, whereas red blood cell transfusion should be reserved for severe cases.
Abstract Anaemia is common in the elderly and is associated with an increased risk of <dis>physical, functional, and cognitive impairment</dis>, hospitalisation and mortality. Although it is unknown whether anaemia is a causal factor or a subrogated marker of worse health status, its correction can improve the patients’ physical and functional capacity. Detection, classification, and treatment of anaemia should be a priority for the health system.
[ { "offsets": [ 87, 133 ], "text": "physical, functional, and cognitive impairment", "type": "DISABILITY" } ]
Conclusions We describe rCBF changes in PD in neural circuits related with control of movements. These changes are more manifest in patients with a longer duration of the disease.
S0212698209713539
Regional cerebral blood flow changes in Parkinson's disease: correlation with disease duration
Keywords Parkinson's disease Brain SPECT Disease duration Regional cerebral blood flow
Abstract Introduction Changes in regional cerebral blood flow (rCBF) have been reported in idiopathic Parkinson's disease (PD). Nonetheless, their typical pattern still remains controversial regarding some features, such as basal ganglia involvement and the main cortical regions affected. Functional neuroimaging makes it possible to identify the brain dysfunctions of the neural circuits underlying the disease. Voxel-based analysis methods make it possible to increase the reliability of the results. Objective To assess the rCBF changes in patients with PD and their relation with disease duration. Materials and methods Thirty PD adult patients <scp><neg>without</neg> <dis>dementia</dis></scp> underwent evaluation with 99mTc-ECD SPECT. SPM5 was used for statistical comparison with 25 normal controls of similar ages. The disease course duration in years was added as a covariate. Additionally, patients with a 6-year evolution or less and those with more than 6 years were compared separately with normal controls. Results Significant hypoperfusion was detected in bilateral premotor and posterior parietal cortex and increase of perfusion was present in the cerebellum. These changes correlated with the years of evolution of the illness. Patients with longer evolution also presented thalamic, subthalamic and basal ganglia hypoperfusion. Conclusions We describe rCBF changes in PD in neural circuits related with control of movements. These changes are more manifest in patients with a longer duration of the disease.
Abstract Introduction Changes in regional cerebral blood flow (rCBF) have been reported in idiopathic Parkinson's disease (PD). Nonetheless, their typical pattern still remains controversial regarding some features, such as basal ganglia involvement and the main cortical regions affected. Functional neuroimaging makes it possible to identify the brain dysfunctions of the neural circuits underlying the disease. Voxel-based analysis methods make it possible to increase the reliability of the results. Objective To assess the rCBF changes in patients with PD and their relation with disease duration. Materials and methods Thirty PD adult patients without dementia underwent evaluation with 99mTc-ECD SPECT. SPM5 was used for statistical comparison with 25 normal controls of similar ages. The disease course duration in years was added as a covariate. Additionally, patients with a 6-year evolution or less and those with more than 6 years were compared separately with normal controls. Results Significant hypoperfusion was detected in bilateral premotor and posterior parietal cortex and increase of perfusion was present in the cerebellum. These changes correlated with the years of evolution of the illness. Patients with longer evolution also presented thalamic, subthalamic and basal ganglia hypoperfusion. Conclusions We describe rCBF changes in PD in neural circuits related with control of movements. These changes are more manifest in patients with a longer duration of the disease.
Conclusions We describe rCBF changes in PD in neural circuits related with control of movements. These changes are more manifest in patients with a longer duration of the disease.
[]
We analyzed the demographic characteristics, mean age to diagnosis, the latencies of progression to Hoehn and Yahr (H&Y) I to II, HY II to III, and III to IV. Time of onset of the hallucinations, falls, cognitive impairment and care needed for activities of daily living (ADL), as milestones of advanced disease. Results We found similar interval times between the different H&Y stages.
S1853002816300295
Clinical progression of Parkinson's disease: A retrospective analysis in a specialized consulting room in movement disorders
Keywords Activities of daily living Cognitive impairment Parkinson's disease Hoehn and Yahr stages Milestones advanced disease
Abstract Introduction Parkinson's Disease diagnosis is supported in clinical criteria, it is frequently observed that the progression of PD varies among different individuals. Objective To evaluate the clinical progression in 100 PDp with more than five years of follow up in a Movement Disorders Section. Materials and methods We reviewed 100 Medical records of PDp with more than five years of follow-up. We analyzed the demographic characteristics, mean age to diagnosis, the latencies of progression to Hoehn and Yahr (H&Y) I to II, HY II to III, and III to IV. Time of onset of the hallucinations, falls, <dis>cognitive impairment</dis> and care needed for activities of daily living (ADL), as milestones of advanced disease. Results We found similar interval times between the different H&Y stages. We observed a faster progression to <dis>cognitive impairment</dis> and needed of care in ADL in patients over 50 years old at the onset of PD _(P_ <.05). Falls were the most frequent complaint found as an advanced disease's milestone (43%). <dis>Cognitive impairment</dis>, hallucinations and falls were associated to higher needs of care in ADL. Conclusions The progression of PD and the severity of parkinsonian signs and symptoms differ widely among patients. Falls, hallucinations and <dis>cognitive impairment</dis> were related to higher needs of care in ADL, suggesting they may be considered risk factors in the progression of the disease.
Abstract Introduction Parkinson's Disease diagnosis is supported in clinical criteria, it is frequently observed that the progression of PD varies among different individuals. Objective To evaluate the clinical progression in 100 PDp with more than five years of follow up in a Movement Disorders Section. Materials and methods We reviewed 100 Medical records of PDp with more than five years of follow-up. We analyzed the demographic characteristics, mean age to diagnosis, the latencies of progression to Hoehn and Yahr (H&Y) I to II, HY II to III, and III to IV. Time of onset of the hallucinations, falls, cognitive impairment and care needed for activities of daily living (ADL), as milestones of advanced disease. Results We found similar interval times between the different H&Y stages. We observed a faster progression to cognitive impairment and needed of care in ADL in patients over 50 years old at the onset of PD _(P_ <.05). Falls were the most frequent complaint found as an advanced disease's milestone (43%). Cognitive impairment, hallucinations and falls were associated to higher needs of care in ADL. Conclusions The progression of PD and the severity of parkinsonian signs and symptoms differ widely among patients. Falls, hallucinations and cognitive impairment were related to higher needs of care in ADL, suggesting they may be considered risk factors in the progression of the disease.
We analyzed the demographic characteristics, mean age to diagnosis, the latencies of progression to Hoehn and Yahr (H&Y) I to II, HY II to III, and III to IV. Time of onset of the hallucinations, falls, <dis>cognitive impairment</dis> and care needed for activities of daily living (ADL), as milestones of advanced disease. Results We found similar interval times between the different H&Y stages.
[ { "offsets": [ 203, 223 ], "text": "cognitive impairment", "type": "DISABILITY" } ]
Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed.
S0001651909000454
Paediatric cochlear implantation in the critical period of the auditory pathway, our experience
Keywords Brain plasticity Early implantation Critical period Sensitive period Cochlear implant results
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in <dis>prelingual deaf</dis> children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering <dis>profound prelingual bilateral sensorineural hearing loss</dis> who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. Results The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. Conclusions Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation.
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. Results The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. Conclusions Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation.
Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering <dis>profound prelingual bilateral sensorineural hearing loss</dis> who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed.
[ { "offsets": [ 98, 154 ], "text": "profound prelingual bilateral sensorineural hearing loss", "type": "DISABILITY" } ]
Conclusions The satisfactory psychometric behaviour of the ENAR-TMG makes the scale a promising tool to assess global functioning in people with a severe mental disorder.
S1888989116000379
Psychometric study of the Required Care Levels for People with Severe Mental Disorder Assessment Scale (ENAR-TMG)
Keywords Severe mental disorder Psychosocial functioning Assessment scale Psychometric study
Introduction People with <dis>severe mental disorder</dis> have <dis>significant difficulties in everyday life that involve the need for continued support</dis>. These needs are not easily measurable with the currently available tools. Therefore, a multidimensional scale that assesses the different levels of need for care is proposed, including a study of its psychometric properties. Method One-hundred and thirty-nine patients (58% men) with a <dis>severe mental disorder</dis> were assessed using the Required Care Levels for People with Severe Mental Disorder Assessment Scale (ENAR-TMG), the Camberwell Assessment of Need scale, and the Health of the Nation Outcome Scales. ENAR-TMG's psychometric features were examined by: a) evaluating 2 sources of validity evidence (evidence based on internal structure and evidence based on relations to other variables), and b) estimating the internal consistency, temporal stability, inter-rater reliability, and sensitivity to change of scores of the ENAR-TMG's subscales. Results Exploratory factor analyses revealed a one-factor structure for each of the theoretical dimensions of the scale, in which all but one showed a significant and positive correlation with the Camberwell Assessment of Need (range of r: 0.143-0.557) and Health of the Nation Outcome Scales (range of r: 0.241-0.474) scales. ENAR-TMG subscale scores showed acceptable internal consistency (range of ordinal α coefficients: 0.682-0.804), excellent test-retest (range of intraclass correlation coefficients: 0.889-0.999) and inter-rater reliabilities (range of intraclass correlation coefficients: 0.926-0.972), and satisfactory sensitivity to treatment-related changes (range of η2: 0.003-0.103). Conclusions The satisfactory psychometric behaviour of the ENAR-TMG makes the scale a promising tool to assess global functioning in people with a <dis>severe mental disorder</dis>.
Introduction People with severe mental disorder have significant difficulties in everyday life that involve the need for continued support. These needs are not easily measurable with the currently available tools. Therefore, a multidimensional scale that assesses the different levels of need for care is proposed, including a study of its psychometric properties. Method One-hundred and thirty-nine patients (58% men) with a severe mental disorder were assessed using the Required Care Levels for People with Severe Mental Disorder Assessment Scale (ENAR-TMG), the Camberwell Assessment of Need scale, and the Health of the Nation Outcome Scales. ENAR-TMG's psychometric features were examined by: a) evaluating 2 sources of validity evidence (evidence based on internal structure and evidence based on relations to other variables), and b) estimating the internal consistency, temporal stability, inter-rater reliability, and sensitivity to change of scores of the ENAR-TMG's subscales. Results Exploratory factor analyses revealed a one-factor structure for each of the theoretical dimensions of the scale, in which all but one showed a significant and positive correlation with the Camberwell Assessment of Need (range of r: 0.143-0.557) and Health of the Nation Outcome Scales (range of r: 0.241-0.474) scales. ENAR-TMG subscale scores showed acceptable internal consistency (range of ordinal α coefficients: 0.682-0.804), excellent test-retest (range of intraclass correlation coefficients: 0.889-0.999) and inter-rater reliabilities (range of intraclass correlation coefficients: 0.926-0.972), and satisfactory sensitivity to treatment-related changes (range of η2: 0.003-0.103). Conclusions The satisfactory psychometric behaviour of the ENAR-TMG makes the scale a promising tool to assess global functioning in people with a severe mental disorder.
Conclusions The satisfactory psychometric behaviour of the ENAR-TMG makes the scale a promising tool to assess global functioning in people with a <dis>severe mental disorder</dis>.
[ { "offsets": [ 147, 169 ], "text": "severe mental disorder", "type": "DISABILITY" } ]
This, in combination with 18F-FDG PET, is the basis of molecular neuroimaging as a biomarker. At present, its prognostic value is being evaluated in longitudinal studies. 11C-PIB-PET has become the reference radiotracer to evaluate the presence of cerebral amyloid. However, its availability is limited due to the need for a nearby cyclotron. Therefore, 18F labeled radiotracers are being introduced.
S2253654X13001182
Molecular neuroimaging in degenerative dementias
Keywords 11 C-PIB Positron emission tomography Dementia Molecular imaging Amyloid imaging Alzheimer's disease
Abstract In the context of the limitations of structural imaging, brain perfusion and metabolism using SPECT and PET have provided relevant information for the study of <dis>cognitive decline</dis>. The introduction of the radiotracers for cerebral amyloid imaging has changed the diagnostic strategy regarding Alzheimer's disease, which is currently considered to be a «continuum». According to this new paradigm, the increasing amyloid load would be associated to the preclinical phase and <dis>mild cognitive impairment</dis>. It has been possible to observe «in vivo» images using 11C-PIB and PET scans. The characteristics of the 11C-PIB image include specific high brain cortical area retention in the positive cases with typical distribution pattern and no retention in the negative cases. This, in combination with 18F-FDG PET, is the basis of molecular neuroimaging as a biomarker. At present, its prognostic value is being evaluated in longitudinal studies. 11C-PIB-PET has become the reference radiotracer to evaluate the presence of cerebral amyloid. However, its availability is limited due to the need for a nearby cyclotron. Therefore, 18F labeled radiotracers are being introduced. Our experience in the last two years with 11C-PIB, first in the research phase and then as being clinically applied, has shown the utility of the technique in the clinical field, either alone or in combination with FDG. Thus, amyloid image is a useful tool for the differential diagnosis of <dis>dementia</dis> and it is a potentially useful method for early diagnosis and evaluation of future treatments.
Abstract In the context of the limitations of structural imaging, brain perfusion and metabolism using SPECT and PET have provided relevant information for the study of cognitive decline. The introduction of the radiotracers for cerebral amyloid imaging has changed the diagnostic strategy regarding Alzheimer's disease, which is currently considered to be a «continuum». According to this new paradigm, the increasing amyloid load would be associated to the preclinical phase and mild cognitive impairment. It has been possible to observe «in vivo» images using 11C-PIB and PET scans. The characteristics of the 11C-PIB image include specific high brain cortical area retention in the positive cases with typical distribution pattern and no retention in the negative cases. This, in combination with 18F-FDG PET, is the basis of molecular neuroimaging as a biomarker. At present, its prognostic value is being evaluated in longitudinal studies. 11C-PIB-PET has become the reference radiotracer to evaluate the presence of cerebral amyloid. However, its availability is limited due to the need for a nearby cyclotron. Therefore, 18F labeled radiotracers are being introduced. Our experience in the last two years with 11C-PIB, first in the research phase and then as being clinically applied, has shown the utility of the technique in the clinical field, either alone or in combination with FDG. Thus, amyloid image is a useful tool for the differential diagnosis of dementia and it is a potentially useful method for early diagnosis and evaluation of future treatments.
This, in combination with 18F-FDG PET, is the basis of molecular neuroimaging as a biomarker. At present, its prognostic value is being evaluated in longitudinal studies. 11C-PIB-PET has become the reference radiotracer to evaluate the presence of cerebral amyloid. However, its availability is limited due to the need for a nearby cyclotron. Therefore, 18F labeled radiotracers are being introduced.
[]
Due to the implementation of vaccination schemes against H. influenza and S. pneumoniae since the 90s, the cases by these pathogens have decreased, causing new bacteria to take place as the cause of the infection. The importance of considering S. pyogenes as an etiology of orbital cellulitis comes from its rapid progression to abscess formation, and the few cases described in the literature.
S2444340917000541
Orbital cellulitis complicated by subperiosteal abscess due to Streptococcus pyogenes infection
Keywords Orbital cellulitis subperiosteal abscess Streptococcus pyogenes Vaccines
Background. Orbital cellulitis is an infectious disease that is very common in pediatric patients, in which severe complications may develop. Etiological agents related to this disease are Haemophilus influenzae B, Staphylococcus aureus, Streptococcus pneumoniae and Moraxella catarrhalis, 95% of the cases. Streptococcus beta-hemolytic and anaerobic microorganisms may also be present and cause <5% of the cases. We present an uncommon case of orbital cellulitis complicated by a subperiosteal abscess caused Streptococcus pyogenes. Case Report. A 9-year-old male patient with a history of <dis>attention deficit disorder</dis> and <dis>hyperactivity disorder</dis> since he was five years old. His illness started with erythema on the outer edge of the right eye, increase in the peri-orbicular volume with limitation of eyelid opening, progression to proptosis, pain with eye movements and conjunctival purulent discharge. Image studies reported a subperiosteal and pre-septal right abscess with extraocular cellulitis. Empirical antibiotic treatment was started, surgical drainage was performed, and Streptococcus pyogenes was isolated from the culture of the obtained purulent material. Conclusions. Due to the implementation of vaccination schemes against H. influenza and S. pneumoniae since the 90s, the cases by these pathogens have decreased, causing new bacteria to take place as the cause of the infection. The importance of considering S. pyogenes as an etiology of orbital cellulitis comes from its rapid progression to abscess formation, and the few cases described in the literature.
Background. Orbital cellulitis is an infectious disease that is very common in pediatric patients, in which severe complications may develop. Etiological agents related to this disease are Haemophilus influenzae B, Staphylococcus aureus, Streptococcus pneumoniae and Moraxella catarrhalis, 95% of the cases. Streptococcus beta-hemolytic and anaerobic microorganisms may also be present and cause <5% of the cases. We present an uncommon case of orbital cellulitis complicated by a subperiosteal abscess caused Streptococcus pyogenes. Case Report. A 9-year-old male patient with a history of attention deficit disorder and hyperactivity disorder since he was five years old. His illness started with erythema on the outer edge of the right eye, increase in the peri-orbicular volume with limitation of eyelid opening, progression to proptosis, pain with eye movements and conjunctival purulent discharge. Image studies reported a subperiosteal and pre-septal right abscess with extraocular cellulitis. Empirical antibiotic treatment was started, surgical drainage was performed, and Streptococcus pyogenes was isolated from the culture of the obtained purulent material. Conclusions. Due to the implementation of vaccination schemes against H. influenza and S. pneumoniae since the 90s, the cases by these pathogens have decreased, causing new bacteria to take place as the cause of the infection. The importance of considering S. pyogenes as an etiology of orbital cellulitis comes from its rapid progression to abscess formation, and the few cases described in the literature.
Due to the implementation of vaccination schemes against H. influenza and S. pneumoniae since the 90s, the cases by these pathogens have decreased, causing new bacteria to take place as the cause of the infection. The importance of considering S. pyogenes as an etiology of orbital cellulitis comes from its rapid progression to abscess formation, and the few cases described in the literature.
[]
Abstract Introduction Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men.
S0213485310000022
Neurological signs in the adult with fragile-X premutation
Keywords Fragile X permutation Tremor/ataxia syndrome Parkinsonism Cognitive deficit
Abstract Introduction Fragile X syndrome is an inherited form of <dis>mental retardation</dis>. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation. Conclusions Fragile X premutation is a risk for <dis>movement disorders</dis> and <dis>cognitive dysfunction</dis> and it should be considered in patients with a family history of <dis>mental retardation</dis> or <dis>autism</dis>, and particularly in those females with premature ovarian failure.
Abstract Introduction Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation. Conclusions Fragile X premutation is a risk for movement disorders and cognitive dysfunction and it should be considered in patients with a family history of mental retardation or autism, and particularly in those females with premature ovarian failure.
Abstract Introduction Fragile X syndrome is an inherited form of <dis>mental retardation</dis>. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men.
[ { "offsets": [ 66, 84 ], "text": "mental retardation", "type": "DISABILITY" } ]
No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Conclusions Patients with rheumatoid arthritis had a high prevalence of sensorineural hearing loss for high and very high frequencies.
S2444050715001059
Subclinical sensorineural hearing loss in female patients with rheumatoid arthritis
Keywords Sensorineural hearing loss High frequency audiometry Rheumatoid arthritis
Abstract Background The rheumatoid arthritis is a clinical entity capable to cause <dis>hearing impairment</dis> that can be diagnosed promptly with high frequencies audiometry. Objective To detect <dis>subclinical sensorineural hearing loss</dis> in patients with rheumatoid arthritis. Material and methods Cross-sectional study on patients with rheumatoid arthritis performing high frequency audiometry 125 Hz to 16,000 Hz and tympanometry. The results were correlated with markers of disease activity and response to therapy. Results High frequency audiometry was performed in 117 female patients aged from 19 to 65 years. <dis>Sensorineural hearing loss</dis> was observed at a sensitivity of pure tones from 125 to 8000 Hz in 43.59%, a tone threshold of 10,000 to 16,000 Hz in 94.02% patients in the right ear and in 95.73% in the left ear. Hearing was normal in 8 (6.84%) patients. <dis>Hearing loss</dis> was observed in 109 (93.16%), and was asymmetric in 36 (30.77%), symmetric in 73 (62.37%), bilateral in 107 (91.45%), unilateral in 2 (1.71%), and no conduction and/or <dis>mixed hearing loss</dis> was encountered. Eight (6.83%) patients presented vertigo, 24 (20.51%) tinnitus. Tympanogram type A presented in 88.90% in the right ear and 91.46% in the left ear, with 5.98–10.25% type As. Stapedius reflex was present in 75.3–85.2%. Speech discrimination in the left ear was significantly different ( _p_ = 0.02) in the group older than 50 years. No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Conclusions Patients with rheumatoid arthritis had a high prevalence of <dis>sensorineural hearing loss</dis> for high and very high frequencies.
Abstract Background The rheumatoid arthritis is a clinical entity capable to cause hearing impairment that can be diagnosed promptly with high frequencies audiometry. Objective To detect subclinical sensorineural hearing loss in patients with rheumatoid arthritis. Material and methods Cross-sectional study on patients with rheumatoid arthritis performing high frequency audiometry 125 Hz to 16,000 Hz and tympanometry. The results were correlated with markers of disease activity and response to therapy. Results High frequency audiometry was performed in 117 female patients aged from 19 to 65 years. Sensorineural hearing loss was observed at a sensitivity of pure tones from 125 to 8000 Hz in 43.59%, a tone threshold of 10,000 to 16,000 Hz in 94.02% patients in the right ear and in 95.73% in the left ear. Hearing was normal in 8 (6.84%) patients. Hearing loss was observed in 109 (93.16%), and was asymmetric in 36 (30.77%), symmetric in 73 (62.37%), bilateral in 107 (91.45%), unilateral in 2 (1.71%), and no conduction and/or mixed hearing loss was encountered. Eight (6.83%) patients presented vertigo, 24 (20.51%) tinnitus. Tympanogram type A presented in 88.90% in the right ear and 91.46% in the left ear, with 5.98–10.25% type As. Stapedius reflex was present in 75.3–85.2%. Speech discrimination in the left ear was significantly different ( _p_ = 0.02) in the group older than 50 years. No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Conclusions Patients with rheumatoid arthritis had a high prevalence of sensorineural hearing loss for high and very high frequencies.
No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Conclusions Patients with rheumatoid arthritis had a high prevalence of <dis>sensorineural hearing loss</dis> for high and very high frequencies.
[ { "offsets": [ 213, 239 ], "text": "sensorineural hearing loss", "type": "DISABILITY" } ]
Doppler ultrasound recording was performed on the LL and the results showed aneurysmal dilatation measuring 72 × 35 mm in the right SFA and 63 × 28 mm in the left SFA. The angiography study of the LL confirmed the presence of aneurysms at that level. Elective surgery was performed involving resection of the aneurysm and end-to- end placement of an 8-mm PTFE graft.
S0003317008020117
Aneurismas verdaderos de la femoral superficial: a propósito de un caso
Key words Aneurysm of the superficial femoral artery Distal embolism Endovascular treatment Rupture Surgical treatment Thrombosis
TRUE ANEURYSMS OF THE SUPERFICIAL FEMORAL ARTERY: A CASE REPORT Summary Introduction. _True aneurysms of the superficial femoral artery (SFA) are rare entities. Fewer than 50 cases have been reported in PubMed and the largest series consists of 13 patients. Here we report the case of a patient with bilateral true aneurysms in the SFA and the surgical treatment that was performed to treat them._ Case report. _A 78-yearold male with a history of chronic obstructive pulmonary disease, benign hypoplasia of the prostate and <dis>blindness</dis> since infancy due to pigmentary retinitis. The patient visited the emergency department after having lumps on the inner side of both thighs for several years and claudication of the soleus-gastrocnemius muscle in the left lower limb at 300 m. Examination revealed the presence of pulsatile masses with systolic murmurs in the mid-third of the thigh in both lower limbs (LL) and a distal to popliteal occlusion in the left lower limb. Doppler ultrasound recording was performed on the LL and the results showed aneurysmal dilatation measuring 72 × 35 mm in the right SFA and 63 × 28 mm in the left SFA. The angiography study of the LL confirmed the presence of aneurysms at that level. Elective surgery was performed involving resection of the aneurysm and end-to- end placement of an 8-mm PTFE graft. The aneurysms presented a thrombus and arteriosclerotic thickening of their walls. Anti-aggregating treatment consisting in 150 mg of acetylsalicylic acid was established and the patient was discharged from hospital five days after surgery._ Conclusions. _True aneurysms of the SFA are rare. They are associated with a high rate of thromboembolic complications and rupture. Preferred treatment consists in resection and placement of a prosthetic or venous graft. [ANGIOLOGIA 2008; 60: 149-54]_
TRUE ANEURYSMS OF THE SUPERFICIAL FEMORAL ARTERY: A CASE REPORT Summary Introduction. _True aneurysms of the superficial femoral artery (SFA) are rare entities. Fewer than 50 cases have been reported in PubMed and the largest series consists of 13 patients. Here we report the case of a patient with bilateral true aneurysms in the SFA and the surgical treatment that was performed to treat them._ Case report. _A 78-yearold male with a history of chronic obstructive pulmonary disease, benign hypoplasia of the prostate and blindness since infancy due to pigmentary retinitis. The patient visited the emergency department after having lumps on the inner side of both thighs for several years and claudication of the soleus-gastrocnemius muscle in the left lower limb at 300 m. Examination revealed the presence of pulsatile masses with systolic murmurs in the mid-third of the thigh in both lower limbs (LL) and a distal to popliteal occlusion in the left lower limb. Doppler ultrasound recording was performed on the LL and the results showed aneurysmal dilatation measuring 72 × 35 mm in the right SFA and 63 × 28 mm in the left SFA. The angiography study of the LL confirmed the presence of aneurysms at that level. Elective surgery was performed involving resection of the aneurysm and end-to- end placement of an 8-mm PTFE graft. The aneurysms presented a thrombus and arteriosclerotic thickening of their walls. Anti-aggregating treatment consisting in 150 mg of acetylsalicylic acid was established and the patient was discharged from hospital five days after surgery._ Conclusions. _True aneurysms of the SFA are rare. They are associated with a high rate of thromboembolic complications and rupture. Preferred treatment consists in resection and placement of a prosthetic or venous graft. [ANGIOLOGIA 2008; 60: 149-54]_
Doppler ultrasound recording was performed on the LL and the results showed aneurysmal dilatation measuring 72 × 35 mm in the right SFA and 63 × 28 mm in the left SFA. The angiography study of the LL confirmed the presence of aneurysms at that level. Elective surgery was performed involving resection of the aneurysm and end-to- end placement of an 8-mm PTFE graft.
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Abstract We report two cases of sudden deafness which appeared during vaso-occlusive crisis of a sickle cell anaemia (homozygous form of disease) and a sickle cell trait (heterozygous form) in two males aged sixteen and twenty-two, respectively. A high erythrocyte aggregability and low deformability were proved in both young men. Although hearing disorders have been reported in this disease, a sudden onset is not common.
S0001651902783222
Report of two cases os sudden deafness in patients bearing of sickle cell anaemia and trait
Key words Sudden deafness Sickle cell disease
Abstract We report two cases of <dis>sudden deafness</dis> which appeared during vaso-occlusive crisis of a sickle cell anaemia (homozygous form of disease) and a sickle cell trait (heterozygous form) in two males aged sixteen and twenty-two, respectively. A high erythrocyte aggregability and low deformability were proved in both young men. Although <dis>hearing disorders</dis> have been reported in this disease, a sudden onset is not common. The treatment used was useful in the removal of painful crisis and infections, but <dis>deafness</dis> did not improve in either of then.
Abstract We report two cases of sudden deafness which appeared during vaso-occlusive crisis of a sickle cell anaemia (homozygous form of disease) and a sickle cell trait (heterozygous form) in two males aged sixteen and twenty-two, respectively. A high erythrocyte aggregability and low deformability were proved in both young men. Although hearing disorders have been reported in this disease, a sudden onset is not common. The treatment used was useful in the removal of painful crisis and infections, but deafness did not improve in either of then.
Abstract We report two cases of <dis>sudden deafness</dis> which appeared during vaso-occlusive crisis of a sickle cell anaemia (homozygous form of disease) and a sickle cell trait (heterozygous form) in two males aged sixteen and twenty-two, respectively. A high erythrocyte aggregability and low deformability were proved in both young men. Although <dis>hearing disorders</dis> have been reported in this disease, a sudden onset is not common.
[ { "offsets": [ 33, 48 ], "text": "sudden deafness", "type": "DISABILITY" }, { "offsets": [ 342, 359 ], "text": "hearing disorders", "type": "DISABILITY" } ]
Objective The objective of this paper is to make a retrospective analysis in patients with glomus tumours of temporal bone origin. We present the results according to the surgical approach applied in each case. Patients and method This retrospective study presents the findings in 17 patients with diagnosis of glomus jugulare of the temporal bone, who were observed and treated in our department over a 5-year period (1999 to 2004). We performed a general otolaryngology exam, systemic evaluation and radiological exam.
S0001651907749452
Glomus tumours of temporal bone origin. study of 17 cases
Key words Tumours of the temporal bone Glomus jugulare Glomus tumours
Objective The objective of this paper is to make a retrospective analysis in patients with glomus tumours of temporal bone origin. We present the results according to the surgical approach applied in each case. Patients and method This retrospective study presents the findings in 17 patients with diagnosis of glomus jugulare of the temporal bone, who were observed and treated in our department over a 5-year period (1999 to 2004). We performed a general otolaryngology exam, systemic evaluation and radiological exam. Surgical treatment was performed in 16 cases out of 17. In 1 case treatment with stereotaxic surgery was performed. Results The surgical approaches were: retroauricular transcanal approach, radical or modified mastoidectomy through facial recess, and infratemporal fossa approach. Pre-operative embolization was used in 11 of our cases. In all cases the diagnosis of glomus tumour was confirmed. The most frequent post-operative complications found were: transitory paralysis of the facial nerve, <dis>sensorineural hearing loss</dis>, imbalance, paralysis of the IXth and XIth cranial nerves, and salivary fistula. No recurrences were found after 8 years of follow-up. One case of persistence was found in the case treated with radiosurgery. Conclusions In our series surgery was found as the elective therapy for patients with glomus tumour of the temporal bone with no recurrences after 8 years of follow-up. Pre-operative embolization diminishes surgery time and intraoperative bleeding. Stereotaxic therapy cannot provide tumour growth control. Complications are discussed and compared with the bibliography.
Objective The objective of this paper is to make a retrospective analysis in patients with glomus tumours of temporal bone origin. We present the results according to the surgical approach applied in each case. Patients and method This retrospective study presents the findings in 17 patients with diagnosis of glomus jugulare of the temporal bone, who were observed and treated in our department over a 5-year period (1999 to 2004). We performed a general otolaryngology exam, systemic evaluation and radiological exam. Surgical treatment was performed in 16 cases out of 17. In 1 case treatment with stereotaxic surgery was performed. Results The surgical approaches were: retroauricular transcanal approach, radical or modified mastoidectomy through facial recess, and infratemporal fossa approach. Pre-operative embolization was used in 11 of our cases. In all cases the diagnosis of glomus tumour was confirmed. The most frequent post-operative complications found were: transitory paralysis of the facial nerve, sensorineural hearing loss, imbalance, paralysis of the IXth and XIth cranial nerves, and salivary fistula. No recurrences were found after 8 years of follow-up. One case of persistence was found in the case treated with radiosurgery. Conclusions In our series surgery was found as the elective therapy for patients with glomus tumour of the temporal bone with no recurrences after 8 years of follow-up. Pre-operative embolization diminishes surgery time and intraoperative bleeding. Stereotaxic therapy cannot provide tumour growth control. Complications are discussed and compared with the bibliography.
Objective The objective of this paper is to make a retrospective analysis in patients with glomus tumours of temporal bone origin. We present the results according to the surgical approach applied in each case. Patients and method This retrospective study presents the findings in 17 patients with diagnosis of glomus jugulare of the temporal bone, who were observed and treated in our department over a 5-year period (1999 to 2004). We performed a general otolaryngology exam, systemic evaluation and radiological exam.
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The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from severe mental illness to screen and treat increased cardiovascular risk factors and diabetes.
S1888989109707141
Cardiovascular disease and diabetes in people with severe mental illness
Keywords Severe mental illness Schizophrenia Depression Bipolar disorder Physical health Weight gain Cardiovascular disease Diabetes
Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with <dis>severe mental illnesses</dis>, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population. The excess cardiovascular mortality associated with schizophrenia and bipolar disorder is attributed to an increased risk of the modifiable coronary heart disease risk factors, obesity, smoking, diabetes, hypertension, and dyslipidaemia. Antipsychotic medication and possibly other psychotropic medication like antidepressants can induce weight gain and further increase the risk of adverse metabolic effects which may result in further increased incidence of cardiovascular disease. Patients have limited access to general healthcare with less opportunity for cardiovascular risk screening and prevention than would be expected in a non- psychiatric population. The European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC) published this statement aiming to improve the care of patients suffering from <dis>severe mental illness</dis>. The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from <dis>severe mental illness</dis> to screen and treat increased cardiovascular risk factors and diabetes.
Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with severe mental illnesses, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population. The excess cardiovascular mortality associated with schizophrenia and bipolar disorder is attributed to an increased risk of the modifiable coronary heart disease risk factors, obesity, smoking, diabetes, hypertension, and dyslipidaemia. Antipsychotic medication and possibly other psychotropic medication like antidepressants can induce weight gain and further increase the risk of adverse metabolic effects which may result in further increased incidence of cardiovascular disease. Patients have limited access to general healthcare with less opportunity for cardiovascular risk screening and prevention than would be expected in a non- psychiatric population. The European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC) published this statement aiming to improve the care of patients suffering from severe mental illness. The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from severe mental illness to screen and treat increased cardiovascular risk factors and diabetes.
The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from <dis>severe mental illness</dis> to screen and treat increased cardiovascular risk factors and diabetes.
[ { "offsets": [ 188, 209 ], "text": "severe mental illness", "type": "DISABILITY" } ]
The predictive factors of the functional results are related with the severity of the injury, age of the child and prelesional circumstances. A rehabilitation program aimed at treating both the motor as well as neuropsychological sequels early should be established. In this paper, we approach cranioencephalic traumatism in the child and adolescent globally, analyzing the sequels and their treatment, and giving special attention to the repercussion of them on growth, due to the typical characteristics of age.
S0048712002733069
Cranioencephalic traumatism in the child and adolescent
Key words Cranioencephalic traumatism Infant Prognostic factors Neuropsychological sequels Disability
Summary Cranioencephalic traumatism is an important cause of morbidity-mortality between the infant and child population and a frequent cause of acquired disability in this population. In small children, it generally occurs due to falls, being hit by a car or bicycle accidents and in adolescents due to traffic accidents. The most common neurological complications are spacticity, <dis>ataxia</dis>, tremor and <dis>hemiparesis</dis>. Speech disorders, principally in form of <dis>expression deficits</dis> and performance of verbal response, can be observed. <dis>Neuropsychological disorders</dis> such as <dis>attention, memory and concentration deficits</dis> are frequent and <dis>behavior disorders</dis> such as apathy, lack of initiative, emotional lability, depression and aggresivity among others can be associated. In general, there is good motor recovery, however neuropsychological deficits generally persist for a prolonged time. The predictive factors of the functional results are related with the severity of the injury, age of the child and prelesional circumstances. A rehabilitation program aimed at treating both the motor as well as neuropsychological sequels early should be established. In this paper, we approach cranioencephalic traumatism in the child and adolescent globally, analyzing the sequels and their treatment, and giving special attention to the repercussion of them on growth, due to the typical characteristics of age.
Summary Cranioencephalic traumatism is an important cause of morbidity-mortality between the infant and child population and a frequent cause of acquired disability in this population. In small children, it generally occurs due to falls, being hit by a car or bicycle accidents and in adolescents due to traffic accidents. The most common neurological complications are spacticity, ataxia, tremor and hemiparesis. Speech disorders, principally in form of expression deficits and performance of verbal response, can be observed. Neuropsychological disorders such as attention, memory and concentration deficits are frequent and behavior disorders such as apathy, lack of initiative, emotional lability, depression and aggresivity among others can be associated. In general, there is good motor recovery, however neuropsychological deficits generally persist for a prolonged time. The predictive factors of the functional results are related with the severity of the injury, age of the child and prelesional circumstances. A rehabilitation program aimed at treating both the motor as well as neuropsychological sequels early should be established. In this paper, we approach cranioencephalic traumatism in the child and adolescent globally, analyzing the sequels and their treatment, and giving special attention to the repercussion of them on growth, due to the typical characteristics of age.
The predictive factors of the functional results are related with the severity of the injury, age of the child and prelesional circumstances. A rehabilitation program aimed at treating both the motor as well as neuropsychological sequels early should be established. In this paper, we approach cranioencephalic traumatism in the child and adolescent globally, analyzing the sequels and their treatment, and giving special attention to the repercussion of them on growth, due to the typical characteristics of age.
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Abstract Outcome prediction is an important component of treatment planning and prognosis. However, reliable predictors of intensive behavioral intervention (IBI) have not been clearly established. IBI is an evidence-based approach to the systematic teaching of academic, social, verbal, and daily living skills to individuals with autism spectrum disorder. Incorporating longitudinal analysis to IBI outcome studies may help to identify outcome predictors of clinical value.
S1697260013700127
Prediction of treatment outcomes and longitudinal analysis in children with autism undergoing intensive behavioral intervention
Keywords Autism Predictors Applied behavior analysis Quasi-experiment (interrupted time-series with one group)
Abstract Outcome prediction is an important component of treatment planning and prognosis. However, reliable predictors of intensive behavioral intervention (IBI) have not been clearly established. IBI is an evidence-based approach to the systematic teaching of academic, social, verbal, and daily living skills to individuals with <dis>autism spectrum disorder</dis>. Incorporating longitudinal analysis to IBI outcome studies may help to identify outcome predictors of clinical value. Twenty-four children with <dis>autism</dis> underwent on average two years of IBI and completed language, daily living skills, cognitive, and motor assessments (Early Learning Accomplishment Profile and the Learning Accomplishment Profile-Diagnostic, 3rd edition) every six months. We used multilevel analysis to identify potential longitudinal predictors including gender, age, intervention intensity, intervention duration, total intervention time, and pre-intervention functioning. Results indicated that total intervention time, pre-intervention functioning, and age caused the greatest increase in goodness-of-fit of the longitudinal multilevel models. Longitudinal analysis is a promising analytical strategy to identify reliable predictors of the clinical outcome of IBI.
Abstract Outcome prediction is an important component of treatment planning and prognosis. However, reliable predictors of intensive behavioral intervention (IBI) have not been clearly established. IBI is an evidence-based approach to the systematic teaching of academic, social, verbal, and daily living skills to individuals with autism spectrum disorder. Incorporating longitudinal analysis to IBI outcome studies may help to identify outcome predictors of clinical value. Twenty-four children with autism underwent on average two years of IBI and completed language, daily living skills, cognitive, and motor assessments (Early Learning Accomplishment Profile and the Learning Accomplishment Profile-Diagnostic, 3rd edition) every six months. We used multilevel analysis to identify potential longitudinal predictors including gender, age, intervention intensity, intervention duration, total intervention time, and pre-intervention functioning. Results indicated that total intervention time, pre-intervention functioning, and age caused the greatest increase in goodness-of-fit of the longitudinal multilevel models. Longitudinal analysis is a promising analytical strategy to identify reliable predictors of the clinical outcome of IBI.
Abstract Outcome prediction is an important component of treatment planning and prognosis. However, reliable predictors of intensive behavioral intervention (IBI) have not been clearly established. IBI is an evidence-based approach to the systematic teaching of academic, social, verbal, and daily living skills to individuals with <dis>autism spectrum disorder</dis>. Incorporating longitudinal analysis to IBI outcome studies may help to identify outcome predictors of clinical value.
[ { "offsets": [ 333, 357 ], "text": "autism spectrum disorder", "type": "DISABILITY" } ]
At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant.
S1695403309006821
Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?
Keywords Gonadal dysgenesis 9p deletion Mental retardation Corpus callosum Sexual differentiation DMRT1 and DMRT2
Abstract Background Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of <dis>psychomotor retardation</dis> and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, <dis>psychomotor retardation</dis> and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing <dis>mental retardation</dis>. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
Abstract Background Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
At one year he had signs of <dis>psychomotor retardation</dis> and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant.
[ { "offsets": [ 28, 51 ], "text": "psychomotor retardation", "type": "DISABILITY" } ]
Very advanced age, higher social precariousness and severe disability after discharge are associated with higher risk of institutionalization.
S0014256504715507
Variables associated with functional recovery and post-discharge institutionalization of elderly cared in an average stay geriatric unit
Key Words comprehensive geriatric assessment elderly rehabilitation outcomes prognosis
Basis . To describe the evolution and results of the rehabilitation of elderly disabled cared in an average stay geriatric unit, and to define the factors associated with functional improvement and post-discharge institutionalization. Patients and method . Observational longitudinal study in 459 patients with <dis>functional disability</dis> consecutively hospitalized between May 2000 and December 2001. Basal variables collected included the clinical, functional, mental, and sociodemographic manifestations previous to the admission. The favorable functional response (defined as a functional gain during the admission of ≥ 20 points in the Barthel index) and the post-discharge institutionalization were regarded the main result variables. Results . The average age of patients was 80.56 (SD:± 7.45) years, 64.9% were women and 81% came from acute hospital units; the main cause of disability was stroke (48.5%) followed by orthopedic pathology (26.2%) and immobility for different causes (23.5%). 72.5% of patients get functional improvement and 16.4% were institutionalized after the discharge. The main independent risk factors for poor functional response found in the multivariate analysis were a scoring in Pfeiffer's cognitive test of 5-7 points (OR: 0.42; 95% CI: 0,22-0.78) and ≥ 8 (OR: 0.29; 95% CI: 0.12-0.71), and a scoring in Barthel's index < 60 prior to the deterioration (OR: 0.36; 95% CI: 0.14-0.93). Independent risk factors for institutionalization after the discharge were age (OR: 1.06; 95% CI: 1.01-1.12), and a scoring in the Gijon's sociofamiliar scale ≥ 9 (OR: 6.83; 95% CI: 1.91-24.47). A <dis>functional disability</dis> after the discharge in the Barthel's index < 40 also was independently associated to post-discharge institutionalization (OR: 3,07; 95% CI: 1.04-10.06). Conclusions . Most of elderly with recent disability benefit functionally from care in specific hospital geriatric units. <dis>Moderate or severe cognitive deterioration</dis> after hospitalization is associated to lower recovery probability. Very advanced age, higher social precariousness and severe disability after discharge are associated with higher risk of institutionalization.
Basis . To describe the evolution and results of the rehabilitation of elderly disabled cared in an average stay geriatric unit, and to define the factors associated with functional improvement and post-discharge institutionalization. Patients and method . Observational longitudinal study in 459 patients with functional disability consecutively hospitalized between May 2000 and December 2001. Basal variables collected included the clinical, functional, mental, and sociodemographic manifestations previous to the admission. The favorable functional response (defined as a functional gain during the admission of ≥ 20 points in the Barthel index) and the post-discharge institutionalization were regarded the main result variables. Results . The average age of patients was 80.56 (SD:± 7.45) years, 64.9% were women and 81% came from acute hospital units; the main cause of disability was stroke (48.5%) followed by orthopedic pathology (26.2%) and immobility for different causes (23.5%). 72.5% of patients get functional improvement and 16.4% were institutionalized after the discharge. The main independent risk factors for poor functional response found in the multivariate analysis were a scoring in Pfeiffer's cognitive test of 5-7 points (OR: 0.42; 95% CI: 0,22-0.78) and ≥ 8 (OR: 0.29; 95% CI: 0.12-0.71), and a scoring in Barthel's index < 60 prior to the deterioration (OR: 0.36; 95% CI: 0.14-0.93). Independent risk factors for institutionalization after the discharge were age (OR: 1.06; 95% CI: 1.01-1.12), and a scoring in the Gijon's sociofamiliar scale ≥ 9 (OR: 6.83; 95% CI: 1.91-24.47). A functional disability after the discharge in the Barthel's index < 40 also was independently associated to post-discharge institutionalization (OR: 3,07; 95% CI: 1.04-10.06). Conclusions . Most of elderly with recent disability benefit functionally from care in specific hospital geriatric units. Moderate or severe cognitive deterioration after hospitalization is associated to lower recovery probability. Very advanced age, higher social precariousness and severe disability after discharge are associated with higher risk of institutionalization.
Very advanced age, higher social precariousness and severe disability after discharge are associated with higher risk of institutionalization.
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Results 12 patients were included (5 women) with ages of 62.4 ± 12.7 years (media ± DE), history of PD was14.2 ± 5.3 years, with Hoehn and Yahr stages within II and IV. UPDRS III score in OFF- medication of 73 ± 11.3.
S0185106314000468
Clinical experience in the Hospital Central Militar with bilateral deep brain stimulation of ventro-medial globus pallidus in patients with Parkinson's disease
Key words Deep brain stimulation Parkinson's disease Globus pallidus Neuromodulation
Abstract Deep brain electrical stimulation of the ventro-medial globus pallidus in Parkinson's disease (PD) is an alternative in the treatment of rigidity in advanced cases which do not response to conventional pharmacological treatment. Objective To measure the clinical changes and collateral effects of bilateral electric stimulation of the ventro-medial globus pallidus, in a sample of patients suffering from Parkinson's disease with predominance of rigidity. Methodology An auto-control study of direct assignation was carried out, open to evaluate the changes according to the Unified Parkinson Disease Rating Scale III (UPDRS III) in a basal period, within 6 and 12 months of follow up same as the collateral effect and the medicament doses. Results 12 patients were included (5 women) with ages of 62.4 ± 12.7 years (media ± DE), history of PD was14.2 ± 5.3 years, with Hoehn and Yahr stages within II and IV. UPDRS III score in OFF- medication of 73 ± 11.3. Beyond 6 months of follow up, a significant statistical change towards tremor, rigidity, bradykinesia, posture and gait, can be appreciated (p < 0.05). The best effect can be observed in the qualification of UPDRS III after implantation (35 to 38 delta points of the scale) and for stimulation particularly for bradykinesia (delta of 11 points). There were no significant changes in levodopa doses. The collateral effects such as phosphenes, contralateral paresthesias, deviation of labial commissure and <dis>dysarthria</dis>, were avoided with the adjustment of stimulation parameters during the surgery. Conclusion This study suggest that bilateral implantation of the ventro-medial globus pallidus is an efficient and safe method in patients PD with rigidity implanted in the Hospital Central Militar.
Abstract Deep brain electrical stimulation of the ventro-medial globus pallidus in Parkinson's disease (PD) is an alternative in the treatment of rigidity in advanced cases which do not response to conventional pharmacological treatment. Objective To measure the clinical changes and collateral effects of bilateral electric stimulation of the ventro-medial globus pallidus, in a sample of patients suffering from Parkinson's disease with predominance of rigidity. Methodology An auto-control study of direct assignation was carried out, open to evaluate the changes according to the Unified Parkinson Disease Rating Scale III (UPDRS III) in a basal period, within 6 and 12 months of follow up same as the collateral effect and the medicament doses. Results 12 patients were included (5 women) with ages of 62.4 ± 12.7 years (media ± DE), history of PD was14.2 ± 5.3 years, with Hoehn and Yahr stages within II and IV. UPDRS III score in OFF- medication of 73 ± 11.3. Beyond 6 months of follow up, a significant statistical change towards tremor, rigidity, bradykinesia, posture and gait, can be appreciated (p < 0.05). The best effect can be observed in the qualification of UPDRS III after implantation (35 to 38 delta points of the scale) and for stimulation particularly for bradykinesia (delta of 11 points). There were no significant changes in levodopa doses. The collateral effects such as phosphenes, contralateral paresthesias, deviation of labial commissure and dysarthria, were avoided with the adjustment of stimulation parameters during the surgery. Conclusion This study suggest that bilateral implantation of the ventro-medial globus pallidus is an efficient and safe method in patients PD with rigidity implanted in the Hospital Central Militar.
Results 12 patients were included (5 women) with ages of 62.4 ± 12.7 years (media ± DE), history of PD was14.2 ± 5.3 years, with Hoehn and Yahr stages within II and IV. UPDRS III score in OFF- medication of 73 ± 11.3.
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Intralabyrinthine schwannomas are uncommon tumours that arise from neural elements in distal branches of the 8th cranial nerve thus they are confined to or have arisen from the vestibule, the semi-circular canals, or the cochlea. The most common presenting symptom is progressive sensory neural hearing loss with or without tinnitus and vestibular symptoms. The diagnostic procedure of choice is gadolinium-enhanced magnetic resonance imaging. Most of these patients can be managed with observation.
S217357350770306X
Intra-Labyrinthine Schwannoma: Two-Cases Report
Key words Intralabyrinthine schwannoma Vestibular schwannoma Cochlear schwannoma Hearing loss Magnetic resonance imaging
Intralabyrinthine schwannomas are uncommon tumours that arise from neural elements in distal branches of the 8th cranial nerve thus they are confined to or have arisen from the vestibule, the semi-circular canals, or the cochlea. The most common presenting symptom is <dis>progressive sensory neural hearing loss with or without tinnitus and vestibular symptoms</dis>. The diagnostic procedure of choice is gadolinium-enhanced magnetic resonance imaging. Most of these patients can be managed with observation. The indications for surgery are limited. We present 2 patients with a diagnosis of intralabyrinthine schwannoma. A discussion of the management of the intralabyrinthine schwannoma follows.
Intralabyrinthine schwannomas are uncommon tumours that arise from neural elements in distal branches of the 8th cranial nerve thus they are confined to or have arisen from the vestibule, the semi-circular canals, or the cochlea. The most common presenting symptom is progressive sensory neural hearing loss with or without tinnitus and vestibular symptoms. The diagnostic procedure of choice is gadolinium-enhanced magnetic resonance imaging. Most of these patients can be managed with observation. The indications for surgery are limited. We present 2 patients with a diagnosis of intralabyrinthine schwannoma. A discussion of the management of the intralabyrinthine schwannoma follows.
Intralabyrinthine schwannomas are uncommon tumours that arise from neural elements in distal branches of the 8th cranial nerve thus they are confined to or have arisen from the vestibule, the semi-circular canals, or the cochlea. The most common presenting symptom is <dis>progressive sensory neural hearing loss with or without tinnitus and vestibular symptoms</dis>. The diagnostic procedure of choice is gadolinium-enhanced magnetic resonance imaging. Most of these patients can be managed with observation.
[ { "offsets": [ 268, 356 ], "text": "progressive sensory neural hearing loss with or without tinnitus and vestibular symptoms", "type": "DISABILITY" } ]
The WHO World Mental Health Survey Initiative version of the Composite International Diagnostic Interview (WMHCIDI) was used. Response rate was 78.6%. Results have been weighted to represent the population of Spain. Results 19.5% of the individuals presented a mental disorder sometime in their lifetime (lifetime- prevalence) and 8.4% in the last 12 months (12 month- prevalence).
S0025775306719698
Prevalence of mental disorders and associated factors: results from the ESEMeD-Spain study
Key words Epidemiology Mental disorders Europe Age of onset Depressive disorders Anxiety disorders
Background and objective The ESEMeD-Spain project is an epidemiological study about <dis>mental disorders</dis> in Spain. We present 12 month-prevalence and lifetime-prevalence of the main mood, anxiety and alcohol use disorders; the influence of sociodemographic factors on its presence and age of onset of the disorders. Subjects and method Cross-sectional household survey of a representative sample of the population of Spain 18 years or older. Sample size was 5.473 individuals. The WHO World Mental Health Survey Initiative version of the Composite International Diagnostic Interview (WMHCIDI) was used. Response rate was 78.6%. Results have been weighted to represent the population of Spain. Results 19.5% of the individuals presented a <dis>mental disorder</dis> sometime in their lifetime (lifetime- prevalence) and 8.4% in the last 12 months (12 month- prevalence). The most frequent <dis>mental disorder</dis> was major depressive episode, with a 12-month prevalence of 3.9% and a lifetime- prevalence of 10.5%. The other most lifetime prevalent disorders were specific phobia, alcohol abuse disorder, and disthymia. Factors associated to presenting a <dis>mental disorder</dis> were being female, being separated, divorced or widowed, and being unemployed, on sick leave or incapacitated. Social phobia, agoraphobia and specific phobia appear at younger ages, while mood disorders and panic disorder appears later in life. Conclusions The ESEMeD-Spain study can provide careful outcomes to understand the impact of <dis>mental disorders</dis> in Spain.
Background and objective The ESEMeD-Spain project is an epidemiological study about mental disorders in Spain. We present 12 month-prevalence and lifetime-prevalence of the main mood, anxiety and alcohol use disorders; the influence of sociodemographic factors on its presence and age of onset of the disorders. Subjects and method Cross-sectional household survey of a representative sample of the population of Spain 18 years or older. Sample size was 5.473 individuals. The WHO World Mental Health Survey Initiative version of the Composite International Diagnostic Interview (WMHCIDI) was used. Response rate was 78.6%. Results have been weighted to represent the population of Spain. Results 19.5% of the individuals presented a mental disorder sometime in their lifetime (lifetime- prevalence) and 8.4% in the last 12 months (12 month- prevalence). The most frequent mental disorder was major depressive episode, with a 12-month prevalence of 3.9% and a lifetime- prevalence of 10.5%. The other most lifetime prevalent disorders were specific phobia, alcohol abuse disorder, and disthymia. Factors associated to presenting a mental disorder were being female, being separated, divorced or widowed, and being unemployed, on sick leave or incapacitated. Social phobia, agoraphobia and specific phobia appear at younger ages, while mood disorders and panic disorder appears later in life. Conclusions The ESEMeD-Spain study can provide careful outcomes to understand the impact of mental disorders in Spain.
The WHO World Mental Health Survey Initiative version of the Composite International Diagnostic Interview (WMHCIDI) was used. Response rate was 78.6%. Results have been weighted to represent the population of Spain. Results 19.5% of the individuals presented a <dis>mental disorder</dis> sometime in their lifetime (lifetime- prevalence) and 8.4% in the last 12 months (12 month- prevalence).
[ { "offsets": [ 261, 276 ], "text": "mental disorder", "type": "DISABILITY" } ]
Conclusions The results suggest that elaboration of positive and negative autobiographical memories, stimulation of instrumental and integrative reminiscences and narration of specific and positive autobiographical memories using the reminiscence program, as designed and analyzed in this study, may be a tool for psychological intervention to reduce depressive symptomatology in old age.
S0211139X09001334
Effects of a reminiscence program on depressive symptomatology in an elderly population in Portugal
Keywords Depressive symptomatology Autobiographical memory Instrumental reminiscence Integrative Reminiscence
Abstract Introduction This study analyzed the effectiveness of an individual, delimited, semi- structured reminiscence program as an intervention strategy to reduce depressive symptomatology in a population of Portuguese old people. Material and methods A semi-structured reminiscence program was developed in 5 individual sessions. The program's impact on depressive symptomatology was tested in 90 subjects aged over 65 years with depressive symptoms, no antidepressive medication, and <scp><neg>no</neg> signs of <dis>dementia</dis></scp>. In a randomized experimental design, participants were assigned to one of 3 groups: _a)_ experimental group (exposed to the program); _b)_ control group, or _c)_ placebo-control group (with weekly relaxation sessions). Pre and post-test score differences in Center for Epidemiologic Studies Depression Scale (CES-D) (adapted by Gonçalves and Fagulha, 2000-2001, from the original developed by Radloff, 1977), were analyzed in all participants at the same time intervals. Results In the experimental group, significant improvements were found in depressive symptomatology (t [29]=19.70, _p_ <0.01); the mean values decreased from 39.87 (standard deviation [SD]=7.90) to 13.60 (SD=5.14). In the control group, a significant increase in depressive symptomatology was observed (z=−2.83; _p_ <0.001); the mean values rose from 30.93 (SD=7.07) to 34.10 (SD=8.76). In the placebo-control group, depressive symptomatology was reduced (t [29]=2,52; _p_ <0.05) from 33.967 (SD=7.37) to 30.57 (SD=9.94), although the difference was less significant than that observed in the experimental group. Conclusions The results suggest that elaboration of positive and negative autobiographical memories, stimulation of instrumental and integrative reminiscences and narration of specific and positive autobiographical memories using the reminiscence program, as designed and analyzed in this study, may be a tool for psychological intervention to reduce depressive symptomatology in old age.
Abstract Introduction This study analyzed the effectiveness of an individual, delimited, semi- structured reminiscence program as an intervention strategy to reduce depressive symptomatology in a population of Portuguese old people. Material and methods A semi-structured reminiscence program was developed in 5 individual sessions. The program's impact on depressive symptomatology was tested in 90 subjects aged over 65 years with depressive symptoms, no antidepressive medication, and no signs of dementia. In a randomized experimental design, participants were assigned to one of 3 groups: _a)_ experimental group (exposed to the program); _b)_ control group, or _c)_ placebo-control group (with weekly relaxation sessions). Pre and post-test score differences in Center for Epidemiologic Studies Depression Scale (CES-D) (adapted by Gonçalves and Fagulha, 2000-2001, from the original developed by Radloff, 1977), were analyzed in all participants at the same time intervals. Results In the experimental group, significant improvements were found in depressive symptomatology (t [29]=19.70, _p_ <0.01); the mean values decreased from 39.87 (standard deviation [SD]=7.90) to 13.60 (SD=5.14). In the control group, a significant increase in depressive symptomatology was observed (z=−2.83; _p_ <0.001); the mean values rose from 30.93 (SD=7.07) to 34.10 (SD=8.76). In the placebo-control group, depressive symptomatology was reduced (t [29]=2,52; _p_ <0.05) from 33.967 (SD=7.37) to 30.57 (SD=9.94), although the difference was less significant than that observed in the experimental group. Conclusions The results suggest that elaboration of positive and negative autobiographical memories, stimulation of instrumental and integrative reminiscences and narration of specific and positive autobiographical memories using the reminiscence program, as designed and analyzed in this study, may be a tool for psychological intervention to reduce depressive symptomatology in old age.
Conclusions The results suggest that elaboration of positive and negative autobiographical memories, stimulation of instrumental and integrative reminiscences and narration of specific and positive autobiographical memories using the reminiscence program, as designed and analyzed in this study, may be a tool for psychological intervention to reduce depressive symptomatology in old age.
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Factors such as diabetes, hyperinsulinemia, overweight or obesity, metabolic syndrome, education, physical activity, cognitive stimulation, marital status and diet, could be related to cognitive decline before 65 years of age. Conclusions Cardiovascular risk factors and lifestyle conditions may be associated with cognitive decline before 65 years of age. However, the quality of the evidence was low.
S0034745014000250
Factors Associated with Cognitive Decline in a Population Less than 65 Years Old. A Systematic Review
Keywords Cognitive decline Risk factors Dementia Systematic review
Abstract Introduction <dis>Cognitive decline</dis> could begin 20 years before the diagnosis of <dis>dementia</dis>. Besides age, several factors related to medical, socioeconomic, and behavioral and genetic condition may be associated with <dis>cognitive decline</dis>. The aim of this systematic review was to summarize evidence on the risk and protective factors for <dis>cognitive decline</dis> in people under 65 years old. Methods A systematic review was conducted using a search strategy in MEDLINE and Embase, including longitudinal studies to analyze the effect of protective or risk factors on <dis>cognitive decline</dis> in a population under 65 years old. Results A total of 22 studies were included in this review. Factors such as diabetes, hyperinsulinemia, overweight or obesity, metabolic syndrome, education, physical activity, cognitive stimulation, marital status and diet, could be related to <dis>cognitive decline</dis> before 65 years of age. Conclusions Cardiovascular risk factors and lifestyle conditions may be associated with <dis>cognitive decline</dis> before 65 years of age. However, the quality of the evidence was low.
Abstract Introduction Cognitive decline could begin 20 years before the diagnosis of dementia. Besides age, several factors related to medical, socioeconomic, and behavioral and genetic condition may be associated with cognitive decline. The aim of this systematic review was to summarize evidence on the risk and protective factors for cognitive decline in people under 65 years old. Methods A systematic review was conducted using a search strategy in MEDLINE and Embase, including longitudinal studies to analyze the effect of protective or risk factors on cognitive decline in a population under 65 years old. Results A total of 22 studies were included in this review. Factors such as diabetes, hyperinsulinemia, overweight or obesity, metabolic syndrome, education, physical activity, cognitive stimulation, marital status and diet, could be related to cognitive decline before 65 years of age. Conclusions Cardiovascular risk factors and lifestyle conditions may be associated with cognitive decline before 65 years of age. However, the quality of the evidence was low.
Factors such as diabetes, hyperinsulinemia, overweight or obesity, metabolic syndrome, education, physical activity, cognitive stimulation, marital status and diet, could be related to <dis>cognitive decline</dis> before 65 years of age. Conclusions Cardiovascular risk factors and lifestyle conditions may be associated with <dis>cognitive decline</dis> before 65 years of age. However, the quality of the evidence was low.
[ { "offsets": [ 185, 202 ], "text": "cognitive decline", "type": "DISABILITY" }, { "offsets": [ 315, 332 ], "text": "cognitive decline", "type": "DISABILITY" } ]
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function.
S0365669117302939
The diagnostic usefulness of the negative electroretinogram
Keywords Birdshot chorioretinopathy Congenital stationary night blindness Electroretinography Ocular paraneoplastic syndromes Retinoschisis
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as <dis>congenital stationary night blindness</dis>, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions.
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions.
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function.
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The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.
S1575092206710865
Overall management of prader-willi syndrome in adulthood
Key words PWS Prader-Willi syndrome Adulthood
Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, <dis>feeding difficulties</dis>, <dis>developmental delay</dis>, and genital hypoplasia. In adolescence and adulthood, problems are centered on <dis>behavioral disorders</dis>, absence of satiety, and <dis>mild to moderate mental retardation</dis>. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, <dis>sleep disorders</dis>, hypogonadism, osteoporosis, and <dis>behavioral and psychiatric disorders</dis>.
Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.
The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, <dis>sleep disorders</dis>, hypogonadism, osteoporosis, and <dis>behavioral and psychiatric disorders</dis>.
[ { "offsets": [ 123, 138 ], "text": "sleep disorders", "type": "DISABILITY" }, { "offsets": [ 172, 208 ], "text": "behavioral and psychiatric disorders", "type": "DISABILITY" } ]
Results showed that all subjects presented at least one progress index and that 96% of them presented progress in the Functional Communicative Profile. These results suggest that it is possible to identify objective improvement indexes after a relatively short period of language therapy with individuals of the autism spectrum. Objective information about therapeutic results may favor better integration of intervention procedures and therefore enhance the possibilities of further improvements.
S0214460312000058
Language therapy results with children of the autism spectrum
Keywords Autism Communication Language therapy Speech-language pathology
Abstract <dis>Communication disorders</dis> of children with <dis>autism spectrum disorders</dis> will probably follow them throughout life if they are not included in remediation and communication intervention programs. The aim of this research was to identify observed changes in the Functional Communicative Profile (initiative, interaction, functions and means) and in the Social Cognitive Performance (vocal and gestural communicative intent, vocal and gestural imitation, tool use, combinatory and symbolic play) after 6 months of language therapy. Subjects were 50 children and adolescents (mean age 9:3y), with diagnosis within the <dis>autistic spectrum</dis> attributed by a child psychiatrist, enrolled in a specialized language therapy program at the University of Sao Paulo, Brazil. All subjects were filmed twice, with a six-month interval, after the first six-months of the therapy onset. Statistical analysis of data used non- parametric tests with a significance level of 0.5%. Results showed that all subjects presented at least one progress index and that 96% of them presented progress in the Functional Communicative Profile. These results suggest that it is possible to identify objective improvement indexes after a relatively short period of language therapy with individuals of the <dis>autism spectrum</dis>. Objective information about therapeutic results may favor better integration of intervention procedures and therefore enhance the possibilities of further improvements.
Abstract Communication disorders of children with autism spectrum disorders will probably follow them throughout life if they are not included in remediation and communication intervention programs. The aim of this research was to identify observed changes in the Functional Communicative Profile (initiative, interaction, functions and means) and in the Social Cognitive Performance (vocal and gestural communicative intent, vocal and gestural imitation, tool use, combinatory and symbolic play) after 6 months of language therapy. Subjects were 50 children and adolescents (mean age 9:3y), with diagnosis within the autistic spectrum attributed by a child psychiatrist, enrolled in a specialized language therapy program at the University of Sao Paulo, Brazil. All subjects were filmed twice, with a six-month interval, after the first six-months of the therapy onset. Statistical analysis of data used non- parametric tests with a significance level of 0.5%. Results showed that all subjects presented at least one progress index and that 96% of them presented progress in the Functional Communicative Profile. These results suggest that it is possible to identify objective improvement indexes after a relatively short period of language therapy with individuals of the autism spectrum. Objective information about therapeutic results may favor better integration of intervention procedures and therefore enhance the possibilities of further improvements.
Results showed that all subjects presented at least one progress index and that 96% of them presented progress in the Functional Communicative Profile. These results suggest that it is possible to identify objective improvement indexes after a relatively short period of language therapy with individuals of the <dis>autism spectrum</dis>. Objective information about therapeutic results may favor better integration of intervention procedures and therefore enhance the possibilities of further improvements.
[ { "offsets": [ 312, 327 ], "text": "autism spectrum", "type": "DISABILITY" } ]
Abstract Introduction and objective To determine the clinical and audiological behaviour per age group in Sjögren's Syndrome (SS), considering that it is the second most frequent autoimmune rheumatic disease. Material and method The study included 29 patients with SS with clinical history and audiological studies. The design was prospective, descriptive and transversal. Results Average patient age was 41 years. All the patients with hearing loss in conventional tone audiometry were of the sensory type.
S2173573510700612
Sjögren's syndrome: Audiological and clinical behaviour in terms of age
Keywords Sjögren's syndrome Hyperacusis Auditory damage Audiometry High frequencies
Abstract Introduction and objective To determine the clinical and audiological behaviour per age group in Sjögren's Syndrome (SS), considering that it is the second most frequent autoimmune rheumatic disease. Material and method The study included 29 patients with SS with clinical history and audiological studies. The design was prospective, descriptive and transversal. Results Average patient age was 41 years. All the patients with <dis>hearing loss</dis> in conventional tone audiometry were of the sensory type. At high frequencies, 66% of the patients did not respond at 20 KHz, and 48% at the frequency of 16 KHz. In logoaudiometry and impedancemetry, the results were the ones expected for the auditory thresholds. Conclusions Auditory damage related to SS is located in the inner ear. Patients must be informed by their physician of the risk of having auditory damage as a complication of the disease. Audiological evaluation must be performed periodically to identify possible audiological damage.
Abstract Introduction and objective To determine the clinical and audiological behaviour per age group in Sjögren's Syndrome (SS), considering that it is the second most frequent autoimmune rheumatic disease. Material and method The study included 29 patients with SS with clinical history and audiological studies. The design was prospective, descriptive and transversal. Results Average patient age was 41 years. All the patients with hearing loss in conventional tone audiometry were of the sensory type. At high frequencies, 66% of the patients did not respond at 20 KHz, and 48% at the frequency of 16 KHz. In logoaudiometry and impedancemetry, the results were the ones expected for the auditory thresholds. Conclusions Auditory damage related to SS is located in the inner ear. Patients must be informed by their physician of the risk of having auditory damage as a complication of the disease. Audiological evaluation must be performed periodically to identify possible audiological damage.
Abstract Introduction and objective To determine the clinical and audiological behaviour per age group in Sjögren's Syndrome (SS), considering that it is the second most frequent autoimmune rheumatic disease. Material and method The study included 29 patients with SS with clinical history and audiological studies. The design was prospective, descriptive and transversal. Results Average patient age was 41 years. All the patients with <dis>hearing loss</dis> in conventional tone audiometry were of the sensory type.
[ { "offsets": [ 438, 450 ], "text": "hearing loss", "type": "DISABILITY" } ]
Introduction Gait impairment, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in progressive loss of personal and social autonomy, along with work productivity. This guide aims to provide recommendations on how to evaluate gait impairment and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with gait impairment in Spain.
S0213485315002698
A guide to treating gait impairment with prolonged-release fampridine (Fampyra®) in patients with multiple sclerosis
Keywords Fampridine Gait impairment Quality of life Multiple sclerosis T25FW MSWS-12
Introduction <dis>Gait impairment</dis>, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in <dis>progressive loss of personal and social autonomy, along with work productivity</dis>. This guide aims to provide recommendations on how to evaluate <dis>gait impairment</dis> and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with <dis>gait impairment</dis> in Spain. Development PR-fampridine dosed at 10mg every 12hours is currently the only drug approved to treat <dis>gait impairment</dis> in adults with MS. Additionally, PR-fampridine has been shown in clinical practice to significantly improve quality of life (QoL) in patients who respond to treatment. Treatment response can be assessed with the Timed 25-Foot Walk (T25FW) or the 12-item MS Walking Scale (MSWS-12); tests should be completed before and after starting treatment. The minimum time recommended for evaluating treatment response is 2 weeks after treatment onset. Patients are considered responders and permitted to continue the treatment when they demonstrate a decrease in their T25FW time or an increase in MSWS-12 scores. A re-evaluation is recommended at least every 6 months. The SF-36 (Short Form-36) and the MSIS-29 (MS Impact Scale-29) tests are recommended for clinicians interested in performing a detailed QoL assessment. This drug is generally well-tolerated and has a good safety profile. It should be taken on an empty stomach and renal function must be monitored regularly. Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for <dis>gait impairment</dis> in Spanish adults with MS.
Introduction Gait impairment, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in progressive loss of personal and social autonomy, along with work productivity. This guide aims to provide recommendations on how to evaluate gait impairment and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with gait impairment in Spain. Development PR-fampridine dosed at 10mg every 12hours is currently the only drug approved to treat gait impairment in adults with MS. Additionally, PR-fampridine has been shown in clinical practice to significantly improve quality of life (QoL) in patients who respond to treatment. Treatment response can be assessed with the Timed 25-Foot Walk (T25FW) or the 12-item MS Walking Scale (MSWS-12); tests should be completed before and after starting treatment. The minimum time recommended for evaluating treatment response is 2 weeks after treatment onset. Patients are considered responders and permitted to continue the treatment when they demonstrate a decrease in their T25FW time or an increase in MSWS-12 scores. A re-evaluation is recommended at least every 6 months. The SF-36 (Short Form-36) and the MSIS-29 (MS Impact Scale-29) tests are recommended for clinicians interested in performing a detailed QoL assessment. This drug is generally well-tolerated and has a good safety profile. It should be taken on an empty stomach and renal function must be monitored regularly. Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for gait impairment in Spanish adults with MS.
Introduction <dis>Gait impairment</dis>, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in <dis>progressive loss of personal and social autonomy, along with work productivity</dis>. This guide aims to provide recommendations on how to evaluate <dis>gait impairment</dis> and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with <dis>gait impairment</dis> in Spain.
[ { "offsets": [ 13, 28 ], "text": "Gait impairment", "type": "DISABILITY" }, { "offsets": [ 128, 206 ], "text": "progressive loss of personal and social autonomy, along with work productivity", "type": "DISABILITY" }, { "offsets": [ 270, 285 ], "text": "gait impairment", "type": "DISABILITY" }, { "offsets": [ 373, 388 ], "text": "gait impairment", "type": "DISABILITY" } ]
Abstract Objective to verify if cognitive impairment can affect the total score obtained on the Freezing of Gait score (FOG-score) test in patients with Parkinson's disease (PD). Material and method A sectional, correlational non-exploratory study was carried out on thirty- four subjects, with mild to moderate PD disease.
S0211563816300748
Influence of the cognitive impairment on the fog-score test: A pilot study
Keywords Parkinson's disease Gait Cognitive impairment Neuropsychological tests
Abstract Objective to verify if <dis>cognitive impairment</dis> can affect the total score obtained on the Freezing of Gait score (FOG-score) test in patients with Parkinson's disease (PD). Material and method A sectional, correlational non-exploratory study was carried out on thirty- four subjects, with mild to moderate PD disease. The participants carried out the FOG-score test and cognitive evaluation: the Mini-Mental State Examination (MMSE), the Frontal Assessment Battery (FAB) and the Fuld Object Memory Evaluation (FOME). Motor function was assessed by the motor subscale of Unified Parkinson's Disease Rating Scale (UPDRS) (part III). Results there was a significant negative correlation between the FOG-score test and global cognition (MMSE) (r = .68; p < .001), memory-related parameters (FOME) (r = .64; _P_ < .001) and executive functions (FAB) (r = .57; _P_ < .001). The motor scores held lower relation with FOG parameters (r = .35; _P_ > .005). Conclusions the results of this study suggest that <dis>cognitive impairment</dis> can strongly affect task performance of the FOG-score test. This suggests the need to adjust the cut-off point when assessing PD patients suffering from <dis>cognitive dysfunction</dis>. This could prevent the examiner from overestimating the existence and recurrence of freezing episodes in this population.
Abstract Objective to verify if cognitive impairment can affect the total score obtained on the Freezing of Gait score (FOG-score) test in patients with Parkinson's disease (PD). Material and method A sectional, correlational non-exploratory study was carried out on thirty- four subjects, with mild to moderate PD disease. The participants carried out the FOG-score test and cognitive evaluation: the Mini-Mental State Examination (MMSE), the Frontal Assessment Battery (FAB) and the Fuld Object Memory Evaluation (FOME). Motor function was assessed by the motor subscale of Unified Parkinson's Disease Rating Scale (UPDRS) (part III). Results there was a significant negative correlation between the FOG-score test and global cognition (MMSE) (r = .68; p < .001), memory-related parameters (FOME) (r = .64; _P_ < .001) and executive functions (FAB) (r = .57; _P_ < .001). The motor scores held lower relation with FOG parameters (r = .35; _P_ > .005). Conclusions the results of this study suggest that cognitive impairment can strongly affect task performance of the FOG-score test. This suggests the need to adjust the cut-off point when assessing PD patients suffering from cognitive dysfunction. This could prevent the examiner from overestimating the existence and recurrence of freezing episodes in this population.
Abstract Objective to verify if <dis>cognitive impairment</dis> can affect the total score obtained on the Freezing of Gait score (FOG-score) test in patients with Parkinson's disease (PD). Material and method A sectional, correlational non-exploratory study was carried out on thirty- four subjects, with mild to moderate PD disease.
[ { "offsets": [ 33, 53 ], "text": "cognitive impairment", "type": "DISABILITY" } ]
In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively.
S1888989114000597
Development of the Spanish Brief-version of the University of California Performance Skills Assessment (Sp-UPSA-Brief) in patients with schizophrenia and bipolar disorder
Keywords Sp-UPSA-Brief Functional capacity Psychometric properties Schizophrenia Bipolar disorder
Abstract Introduction In patients with <dis>severe mental disorders</dis> outcome measurement should include symptoms, cognition, functioning and quality of life at least. Shorter and efficient instruments have greater potential for pragmatic and valid clinical utility. Our aim was to develop the Spanish UPSA Brief scale (Sp-UPSA-Brief). Material and methods Naturalistic, 6-month follow-up, multicentre study. 139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief. Results The stepwise regression model for patients with schizophrenia showed that communication and transportation Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.88, model _df_ = 2, F = 395.05). In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively. Pearson correlation coefficients between Sp-UPSA and Sp-UPSA-Brief were 0.93 for schizophrenia and 0.92 for bipolar patients (p < 0.0001). The Sp-UPSA-Brief discriminated between patients and controls. In schizophrenia patients it also discriminated among different levels of illness severity according to CGI-S scores. Conclusion The Sp-UPSA-Brief is an alternate instrument to evaluate functional capacity that is valid and reliable. Having a shorter instrument makes it more feasible to assess functional capacity in patients with <dis>severe mental disorders</dis>, especially in everyday clinical practice.
Abstract Introduction In patients with severe mental disorders outcome measurement should include symptoms, cognition, functioning and quality of life at least. Shorter and efficient instruments have greater potential for pragmatic and valid clinical utility. Our aim was to develop the Spanish UPSA Brief scale (Sp-UPSA-Brief). Material and methods Naturalistic, 6-month follow-up, multicentre study. 139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief. Results The stepwise regression model for patients with schizophrenia showed that communication and transportation Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.88, model _df_ = 2, F = 395.05). In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively. Pearson correlation coefficients between Sp-UPSA and Sp-UPSA-Brief were 0.93 for schizophrenia and 0.92 for bipolar patients (p < 0.0001). The Sp-UPSA-Brief discriminated between patients and controls. In schizophrenia patients it also discriminated among different levels of illness severity according to CGI-S scores. Conclusion The Sp-UPSA-Brief is an alternate instrument to evaluate functional capacity that is valid and reliable. Having a shorter instrument makes it more feasible to assess functional capacity in patients with severe mental disorders, especially in everyday clinical practice.
In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively.
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In order to differentiate among the different types of cognitive impairment, the alterations in imaging and spectroscopy findings were graded from 0 to 4, as was the mean combination of the two, and then ROC curves were obtained.
S0033833806751396
Cognitive impairment: classification by proton magnetic resonance spectroscopy and the contributions of conventional magnetic resonance imaging
Key words mild cognitive impairment magnetic resonance image magnetic resonance in vivo spectroscopy Alzheimer's disease vascular dementia
Objective To analyze the diagnostic accuracy of protón magnetic resonance spectroscopy (1H MRS) in patients with <dis>cognitive impairment</dis> and to establish the usefulness of complementary information provided by conventional magnetic resonance imaging (MRI). Material and methods 64 patients with <dis>cognitive impairment</dis>, including Alzheimer's disease (AD) (n=31), <dis>vascular dementia</dis> (n=6), <dis>mild cognitive impairment</dis> (<dis>MCI</dis>) (n=9), and major depression (n=18), were studied. All patients underwent cerebral MRI and single-volume 1H MRS using two echo times (TE, 31 and 136 ms) in the posterior cingulate gyrus and right temporal lobe. The metabolites analyzed were N-acetylaspartate (NAA), myo-Inositol (mi), choline (Ch), and ere-atine (Cr), and the ratios of Ch/Cr, mI/Cr, NAA/mIand NAA/Cr were calculated. In order to differentiate among the different types of <dis>cognitive impairment</dis>, the alterations in imaging and spectroscopy findings were graded from 0 to 4, as was the mean combination of the two, and then ROC curves were obtained. Results Statistically significant differences were found between the spectra of patients with <dis>dementia</dis> (AD and <dis>vascular dementia</dis>) and those <scp><neg>without</neg> <dis>dementia</dis> (<dis>MCI</dis> and depression) in the posterior cingulate gyrus</scp>. The NAA/ml ratio yielded the best área under the ROC curve, with the best sensitivity (82.5%) and specificity (72.7%) in the diagnosis of AD. The NAA/mI and ml/Cr quotients differentiated between the four degenerative pathologies causing the <dis>cognitive impairment</dis>. The combination of MRI and 1H MRS significantly improved the accuracy of the diagnosis of AD. Conclusions The metabolic differences found among patients with <dis>cognitive impairment</dis> using 1H MRS can be useful for differentiating AD, <dis>vascular dementia</dis>, <dis>MCI</dis>, and depression. The combination of spectroscopy and MRI findings is useful in the diagnosis of AD.
Objective To analyze the diagnostic accuracy of protón magnetic resonance spectroscopy (1H MRS) in patients with cognitive impairment and to establish the usefulness of complementary information provided by conventional magnetic resonance imaging (MRI). Material and methods 64 patients with cognitive impairment, including Alzheimer's disease (AD) (n=31), vascular dementia (n=6), mild cognitive impairment (MCI) (n=9), and major depression (n=18), were studied. All patients underwent cerebral MRI and single-volume 1H MRS using two echo times (TE, 31 and 136 ms) in the posterior cingulate gyrus and right temporal lobe. The metabolites analyzed were N-acetylaspartate (NAA), myo-Inositol (mi), choline (Ch), and ere-atine (Cr), and the ratios of Ch/Cr, mI/Cr, NAA/mIand NAA/Cr were calculated. In order to differentiate among the different types of cognitive impairment, the alterations in imaging and spectroscopy findings were graded from 0 to 4, as was the mean combination of the two, and then ROC curves were obtained. Results Statistically significant differences were found between the spectra of patients with dementia (AD and vascular dementia) and those without dementia (MCI and depression) in the posterior cingulate gyrus. The NAA/ml ratio yielded the best área under the ROC curve, with the best sensitivity (82.5%) and specificity (72.7%) in the diagnosis of AD. The NAA/mI and ml/Cr quotients differentiated between the four degenerative pathologies causing the cognitive impairment. The combination of MRI and 1H MRS significantly improved the accuracy of the diagnosis of AD. Conclusions The metabolic differences found among patients with cognitive impairment using 1H MRS can be useful for differentiating AD, vascular dementia, MCI, and depression. The combination of spectroscopy and MRI findings is useful in the diagnosis of AD.
In order to differentiate among the different types of <dis>cognitive impairment</dis>, the alterations in imaging and spectroscopy findings were graded from 0 to 4, as was the mean combination of the two, and then ROC curves were obtained.
[ { "offsets": [ 55, 75 ], "text": "cognitive impairment", "type": "DISABILITY" } ]
The questionnaire was sent to 166 Nuclear Medicine departments. Results A total of 54 departments distributed among all regions completed the questionnaire. Most departments performed between 300 and 800 neuroimaging examinations per year, representing more than 25 scans per month. The average pieces of equipment were three; half of the departments had a PET/CT scanner and SPECT/CT equipment.
S2253654X16301901
A new era for Nuclear Medicine neuroimaging in Spain: Where do we start from in Spain?
Keywords Neuroimaging Nuclear Medicine PET SPECT
Abstract Objective To determine the status of neuroimaging studies of Nuclear Medicine in Spain during 2013 and first quarter of 2014, in order to define the activities of the neuroimaging group of the Spanish Society of Nuclear Medicine and Molecular Imaging (SEMNIM). Material and methods A questionnaire of 14 questions was designed, divided into 3 parts: characteristics of the departments (equipment and professionals involved); type of scans and clinical indications; and evaluation methods. The questionnaire was sent to 166 Nuclear Medicine departments. Results A total of 54 departments distributed among all regions completed the questionnaire. Most departments performed between 300 and 800 neuroimaging examinations per year, representing more than 25 scans per month. The average pieces of equipment were three; half of the departments had a PET/CT scanner and SPECT/CT equipment. Scans performed more frequently were brain SPECT with 123I-FP-CIT, followed by brain perfusion SPECT and PET with 18F-FDG. The most frequent clinical indications were <dis>cognitive impairment</dis> followed by <dis>movement disorders</dis>. For evaluation of the images most sites used only visual assessment, and for the quantitative assessment the most used was quantification by region of interest. Conclusions These results reflect the clinical activity of 2013 and first quarter of 2014. The main indications of the studies were <dis>cognitive impairment</dis> and <dis>movement disorders</dis>. Variability in the evaluation of the studies is among the challenges that will be faced in the coming years.
Abstract Objective To determine the status of neuroimaging studies of Nuclear Medicine in Spain during 2013 and first quarter of 2014, in order to define the activities of the neuroimaging group of the Spanish Society of Nuclear Medicine and Molecular Imaging (SEMNIM). Material and methods A questionnaire of 14 questions was designed, divided into 3 parts: characteristics of the departments (equipment and professionals involved); type of scans and clinical indications; and evaluation methods. The questionnaire was sent to 166 Nuclear Medicine departments. Results A total of 54 departments distributed among all regions completed the questionnaire. Most departments performed between 300 and 800 neuroimaging examinations per year, representing more than 25 scans per month. The average pieces of equipment were three; half of the departments had a PET/CT scanner and SPECT/CT equipment. Scans performed more frequently were brain SPECT with 123I-FP-CIT, followed by brain perfusion SPECT and PET with 18F-FDG. The most frequent clinical indications were cognitive impairment followed by movement disorders. For evaluation of the images most sites used only visual assessment, and for the quantitative assessment the most used was quantification by region of interest. Conclusions These results reflect the clinical activity of 2013 and first quarter of 2014. The main indications of the studies were cognitive impairment and movement disorders. Variability in the evaluation of the studies is among the challenges that will be faced in the coming years.
The questionnaire was sent to 166 Nuclear Medicine departments. Results A total of 54 departments distributed among all regions completed the questionnaire. Most departments performed between 300 and 800 neuroimaging examinations per year, representing more than 25 scans per month. The average pieces of equipment were three; half of the departments had a PET/CT scanner and SPECT/CT equipment.
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The outcome, Barthel Index (BI), was measured at admission, discharge, and 1-month post-discharge. Patients with BI≤75 at admission (n=54) or with a missing BI value were excluded (n=1). Multivariate logistic regression analyses were conducted to explore predictive factors with functional decline (BI≤75) from admission to discharge, and 1-month later.
S0211139X17301294
Functional impairment associated with cognitive impairment in hospitalised elderly
Keywords Delirium Cognitive impairment Functional decline Hospitalised older
Introduction The aim of this study was to analyse the effect of <dis>cognitive impairment</dis> on <dis>functional decline</dis> in hospitalised patients aged ≥60 years. Methods Measurements at admission included demographic data, Charlson's comorbidity index, and <dis>cognitive impairment</dis> (according to education level). Data were also collected on hospital length of stay, depression, and delirium developed during hospitalisation. The outcome, Barthel Index (BI), was measured at admission, discharge, and 1-month post-discharge. Patients with BI≤75 at admission (n=54) or with a missing BI value were excluded (n=1). Multivariate logistic regression analyses were conducted to explore predictive factors with <dis>functional decline</dis> (BI≤75) from admission to discharge, and 1-month later. Results Of the 133 patients included, 24.8% and 19.6% had a BI≤75 at discharge and at 1-month, respectively. Compared with men, women had more than double risk for <dis>functional decline</dis> at discharge and 1-month (P<.05). Compared with those without delirium and <scp><neg>without</neg> <dis>cognitive impairment</dis></scp>, those with delirium and <dis>cognitive impairment</dis> had an increased risk for <dis>functional decline</dis> (BI≤75) at discharge (OR 5.15, 95% CI; 1.94-13.67), and at 1-month (OR 6.26, 95% CI; 2.30-17.03). Similarly, those with comorbidity (≥2) had increased <dis>functional decline</dis> at discharge (OR 2.36, 95% CI; 1.14-4.87), and at 1-month after discharge (OR 2.71, 95% CI; 1.25-5.89). Conclusion Delirium during hospitalisation, together with <dis>cognitive impairment</dis> on admission, was a strong predictor of <dis>functional decline</dis>.
Introduction The aim of this study was to analyse the effect of cognitive impairment on functional decline in hospitalised patients aged ≥60 years. Methods Measurements at admission included demographic data, Charlson's comorbidity index, and cognitive impairment (according to education level). Data were also collected on hospital length of stay, depression, and delirium developed during hospitalisation. The outcome, Barthel Index (BI), was measured at admission, discharge, and 1-month post-discharge. Patients with BI≤75 at admission (n=54) or with a missing BI value were excluded (n=1). Multivariate logistic regression analyses were conducted to explore predictive factors with functional decline (BI≤75) from admission to discharge, and 1-month later. Results Of the 133 patients included, 24.8% and 19.6% had a BI≤75 at discharge and at 1-month, respectively. Compared with men, women had more than double risk for functional decline at discharge and 1-month (P<.05). Compared with those without delirium and without cognitive impairment, those with delirium and cognitive impairment had an increased risk for functional decline (BI≤75) at discharge (OR 5.15, 95% CI; 1.94-13.67), and at 1-month (OR 6.26, 95% CI; 2.30-17.03). Similarly, those with comorbidity (≥2) had increased functional decline at discharge (OR 2.36, 95% CI; 1.14-4.87), and at 1-month after discharge (OR 2.71, 95% CI; 1.25-5.89). Conclusion Delirium during hospitalisation, together with cognitive impairment on admission, was a strong predictor of functional decline.
The outcome, Barthel Index (BI), was measured at admission, discharge, and 1-month post-discharge. Patients with BI≤75 at admission (n=54) or with a missing BI value were excluded (n=1). Multivariate logistic regression analyses were conducted to explore predictive factors with <dis>functional decline</dis> (BI≤75) from admission to discharge, and 1-month later.
[ { "offsets": [ 279, 297 ], "text": "functional decline", "type": "DISABILITY" } ]
Conclusions It can be highlighted that healthcare professionals lack knowledge of all aspects of deafblindness, sign language in particular, and there is a shortage of signs and information for the deafblind. Moreover, alternatives are required to reduce waiting times and improve direct communication with health professionals.
S2445147917300723
Experiences of deafblind people about health care
Keywords Deafblind disorders Sensation disorders Nursing care Health services
Abstract <dis>Deafblindness</dis> is a disability resulting from the combination of <dis>visual and auditory sensory impairments</dis>, which can manifest in different levels causing <dis>special communication problems</dis>. <dis>Deafblind</dis> people have special needs that derive from <dis>difficulties in sensing, understanding, attention</dis> and a <dis>lack of the skills required to function effectively in society</dis>. <dis>Deafblindness</dis> requires specialised services, personnel specifically trained in its care and special methods for communication. Objective The main objective of this study is to explore the experiences of <dis>deafblind</dis> people in relation to health care throughout their lives. This study was developed at the St. Ángela de la Cruz Centre, belonging to the Association of Parents of Deafblind People in Spain. Method Phenomenological qualitative study, through semi-structured interviews with <dis>deafblind</dis> people at the St. Ángela de la Cruz Centre, Salteras (Seville), carried out in 2015, with the help of interpreters in Spanish sign language. Topics covered in the interviews refer to facilities, human resources, time waiting and health care. Results Coinciding statements were obtained, where the participants point out architectural and educational barriers in health care and stand out better if the professionals know sign language. Conclusions It can be highlighted that healthcare professionals lack knowledge of all aspects of <dis>deafblindness</dis>, sign language in particular, and there is a shortage of signs and information for the <dis>deafblind</dis>. Moreover, alternatives are required to reduce waiting times and improve direct communication with health professionals.
Abstract Deafblindness is a disability resulting from the combination of visual and auditory sensory impairments, which can manifest in different levels causing special communication problems. Deafblind people have special needs that derive from difficulties in sensing, understanding, attention and a lack of the skills required to function effectively in society. Deafblindness requires specialised services, personnel specifically trained in its care and special methods for communication. Objective The main objective of this study is to explore the experiences of deafblind people in relation to health care throughout their lives. This study was developed at the St. Ángela de la Cruz Centre, belonging to the Association of Parents of Deafblind People in Spain. Method Phenomenological qualitative study, through semi-structured interviews with deafblind people at the St. Ángela de la Cruz Centre, Salteras (Seville), carried out in 2015, with the help of interpreters in Spanish sign language. Topics covered in the interviews refer to facilities, human resources, time waiting and health care. Results Coinciding statements were obtained, where the participants point out architectural and educational barriers in health care and stand out better if the professionals know sign language. Conclusions It can be highlighted that healthcare professionals lack knowledge of all aspects of deafblindness, sign language in particular, and there is a shortage of signs and information for the deafblind. Moreover, alternatives are required to reduce waiting times and improve direct communication with health professionals.
Conclusions It can be highlighted that healthcare professionals lack knowledge of all aspects of <dis>deafblindness</dis>, sign language in particular, and there is a shortage of signs and information for the <dis>deafblind</dis>. Moreover, alternatives are required to reduce waiting times and improve direct communication with health professionals.
[ { "offsets": [ 97, 110 ], "text": "deafblindness", "type": "DISABILITY" }, { "offsets": [ 198, 207 ], "text": "deafblind", "type": "DISABILITY" } ]
Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.
S0211139X06729572
Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit
Key words Nonagenarian Rehabilitation Geriatric assessment
Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.
Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.
Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.
[ { "offsets": [ 47, 68 ], "text": "functional impairment", "type": "DISABILITY" } ]
The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.
S2173573511000937
Hearing Loss and Airway Problems in Children With Mucopolysaccharidoses
Keywords Mucopolysaccharidoses Hearing loss Airway
Abstract Introduction Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, <dis>hearing loss</dis> and airway obstruction in the ENT area. Objective Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. Methods A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010. Results Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed <dis>mild bilateral sensorineural hearing loss</dis>; another case was diagnosed as <dis>mixed hearing loss</dis>. The remaining auditory pattern was <dis>moderate bilateral conductive hearing loss</dis>. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. Conclusions Children with MPS are at increased risk for developing <dis>sensorineural hearing loss</dis>. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.
Abstract Introduction Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. Objective Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. Methods A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010. Results Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. Conclusions Children with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.
The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.
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The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
S0213485316302390
Usefulness of multiparametric computerized tomography findings in the differential diagnosis of stroke mimics of epileptic origin: A preliminary study
Keywords Stroke mimics Cerebral perfusion Computerized Tomography Multiparametric Computerized Tomography Epilepsy Stroke
Objective. Thirty percent of the patients for whom code stroke is activated have stroke mimics, the most common being epilepsy. Our purpose was to evaluate the usefulness of multiparametric CT for differentiating between seizure-related symptoms and vascular events. Material and methods. We conducted a retrospective observational study; data were gathered prospectively during one year. We studied multiparametric CT images of patients admitted following code stroke activation and finally diagnosed with epilepsy. Results. The study included a total of 11 patients; 36% were men and mean age was 74.5 years. Three patients had right hemisphere syndrome, 4 displayed left hemisphere syndrome, and the remaining 4 had <dis>isolated aphasia</dis>. Maximum time from symptom onset to multiparametric CT study was 8.16hours. Perfusion CT results were normal in 2 patients. Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion. The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
Objective. Thirty percent of the patients for whom code stroke is activated have stroke mimics, the most common being epilepsy. Our purpose was to evaluate the usefulness of multiparametric CT for differentiating between seizure-related symptoms and vascular events. Material and methods. We conducted a retrospective observational study; data were gathered prospectively during one year. We studied multiparametric CT images of patients admitted following code stroke activation and finally diagnosed with epilepsy. Results. The study included a total of 11 patients; 36% were men and mean age was 74.5 years. Three patients had right hemisphere syndrome, 4 displayed left hemisphere syndrome, and the remaining 4 had isolated aphasia. Maximum time from symptom onset to multiparametric CT study was 8.16hours. Perfusion CT results were normal in 2 patients. Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion. The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
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Results Twenty-one elders, average age 73.5 years (SD: 7.3 years), range: 57-82, 90.5% female; 71.4% reported no current marital relationship, in 66.5% educational level ranged from 1 to 5 years, 42.9% assiduously attended the activities during the last 6 years, 76.2% had no cognoscitive impairment, 90.5% no somatic symptoms, 90.5% no anxiety, 95.2% no social dysfunction, 95.2% no depression and 76.1% reported being satisfied with their life.
S012173721730105X
Memory maintenance and conservation activities in an elders group
Keywords Cognoscitive Deterioration Elder Cognoscitive Stimulation
Objective To obtain a clinical and socio-demographic profile of a group of elders of the community who participated in Memory Maintenance and Conservation activities. Materials and methods A series of 21 elders in whom cognoscitive status was determined applying the NEUROPSI Test and the presence of somatic symptoms, anxiety, <dis>social dysfunction</dis> and depression using the General Health Questionnaire (GHQ-28). Life satisfaction was assessed with the Satisfaction with Life Scale. Results Twenty-one elders, average age 73.5 years (SD: 7.3 years), range: 57-82, 90.5% female; 71.4% reported no current marital relationship, in 66.5% educational level ranged from 1 to 5 years, 42.9% assiduously attended the activities during the last 6 years, 76.2% <scp>had <neg>no</neg> <dis>cognoscitive impairment</dis></scp>, 90.5% no somatic symptoms, 90.5% no anxiety, 95.2% <scp><neg>no</neg> <dis>social dysfunction</dis></scp>, 95.2% no depression and 76.1% reported being satisfied with their life. Conclusions <scp><neg>Absence of</neg> <dis>cognoscitive deterioration</dis></scp> is similar to that within the general population. Participants did not report depression, anxiety or somatic complaints, showed good social functioning and integration level and were satisfied with their life. Despite the limitations associated with small sample size, the results encourage us to continue this work and to engage in more rigorous research.
Objective To obtain a clinical and socio-demographic profile of a group of elders of the community who participated in Memory Maintenance and Conservation activities. Materials and methods A series of 21 elders in whom cognoscitive status was determined applying the NEUROPSI Test and the presence of somatic symptoms, anxiety, social dysfunction and depression using the General Health Questionnaire (GHQ-28). Life satisfaction was assessed with the Satisfaction with Life Scale. Results Twenty-one elders, average age 73.5 years (SD: 7.3 years), range: 57-82, 90.5% female; 71.4% reported no current marital relationship, in 66.5% educational level ranged from 1 to 5 years, 42.9% assiduously attended the activities during the last 6 years, 76.2% had no cognoscitive impairment, 90.5% no somatic symptoms, 90.5% no anxiety, 95.2% no social dysfunction, 95.2% no depression and 76.1% reported being satisfied with their life. Conclusions Absence of cognoscitive deterioration is similar to that within the general population. Participants did not report depression, anxiety or somatic complaints, showed good social functioning and integration level and were satisfied with their life. Despite the limitations associated with small sample size, the results encourage us to continue this work and to engage in more rigorous research.
Results Twenty-one elders, average age 73.5 years (SD: 7.3 years), range: 57-82, 90.5% female; 71.4% reported no current marital relationship, in 66.5% educational level ranged from 1 to 5 years, 42.9% assiduously attended the activities during the last 6 years, 76.2% <scp>had <neg>no</neg> <dis>cognoscitive impairment</dis></scp>, 90.5% no somatic symptoms, 90.5% no anxiety, 95.2% <scp><neg>no</neg> <dis>social dysfunction</dis></scp>, 95.2% no depression and 76.1% reported being satisfied with their life.
[ { "offsets": [ 276, 299 ], "text": "cognoscitive impairment", "type": "DISABILITY" }, { "offsets": [ 355, 373 ], "text": "social dysfunction", "type": "DISABILITY" } ]
Discussion In our sample, DBS-SN did not result in global cognitive impairment 5 years after surgery. Verbal function was found to be significantly impaired one year after the procedure. Impaired learning and visuospatial function may be attributed to degeneration associated with PD.
S0213485317302232
Long-term impact of subthalamic stimulation on cognitive function in patients with advanced Parkinson's disease
Keywords Cognitive impairment Deep brain stimulation Depression Parkinson's disease Quality of life Subthalamic nucleus
Objective The aim of this study was to evaluate the effects of deep brain stimulation of the subthalamic nucleus (DBS-SN) on cognitive function in patients with Parkinson's disease (PD) 5 years after surgery. Material and methods We conducted a prospective study including 50 patients with PD who underwent DBS-SN (62.5% were men; mean age of 62.2±8.2 years; mean progression time of 14.1±6.3 years). All patients were assessed before the procedure and at one year after surgery; 40 patients were further followed up until the 5-year mark. Follow-up assessments included the following neuropsychological tests: Mini–Mental State Examination (MMSE), Mattis Dementia Rating Scale (MDRS), letter-number sequencing of the WAIS-III (WAIS-III-LN), clock-drawing test, Rey auditory verbal learning test (RAVLT), Benton Visual Retention Test (BVRT), Judgment of Line Orientation (JLO) test, FAS Phonemic Verbal Fluency Test, Stroop test, and the Montgomery-Asberg Depression Rating Scale (MADRS). Results Patients were found to score lower on the MMSE (−0.89%), clock-drawing test (−2.61%), MDRS (−1.72%), and especially phonemic (−13.28%) and sematic verbal fluency tests (−12.40%) at one year after surgery. Delayed recall on the RAVLT worsened one year after the procedure (−10.12%). At 5 years, impairment affected mainly verbal fluency; scores decreased an additional 16.10% and 16.60% in semantic and phonemic verbal fluency, respectively. Moderate decreases were observed in immediate recall (−16.87%), WAIS-III-LN (−16.67%), and JLO test (−11.56%). Discussion In our sample, DBS-SN did <scp><neg>not</neg> result in <dis>global cognitive impairment</dis> 5 years after surgery</scp>. <dis>Verbal function was found to be significantly impaired</dis> one year after the procedure. <dis>Impaired learning and visuospatial function</dis> may be attributed to degeneration associated with PD.
Objective The aim of this study was to evaluate the effects of deep brain stimulation of the subthalamic nucleus (DBS-SN) on cognitive function in patients with Parkinson's disease (PD) 5 years after surgery. Material and methods We conducted a prospective study including 50 patients with PD who underwent DBS-SN (62.5% were men; mean age of 62.2±8.2 years; mean progression time of 14.1±6.3 years). All patients were assessed before the procedure and at one year after surgery; 40 patients were further followed up until the 5-year mark. Follow-up assessments included the following neuropsychological tests: Mini–Mental State Examination (MMSE), Mattis Dementia Rating Scale (MDRS), letter-number sequencing of the WAIS-III (WAIS-III-LN), clock-drawing test, Rey auditory verbal learning test (RAVLT), Benton Visual Retention Test (BVRT), Judgment of Line Orientation (JLO) test, FAS Phonemic Verbal Fluency Test, Stroop test, and the Montgomery-Asberg Depression Rating Scale (MADRS). Results Patients were found to score lower on the MMSE (−0.89%), clock-drawing test (−2.61%), MDRS (−1.72%), and especially phonemic (−13.28%) and sematic verbal fluency tests (−12.40%) at one year after surgery. Delayed recall on the RAVLT worsened one year after the procedure (−10.12%). At 5 years, impairment affected mainly verbal fluency; scores decreased an additional 16.10% and 16.60% in semantic and phonemic verbal fluency, respectively. Moderate decreases were observed in immediate recall (−16.87%), WAIS-III-LN (−16.67%), and JLO test (−11.56%). Discussion In our sample, DBS-SN did not result in global cognitive impairment 5 years after surgery. Verbal function was found to be significantly impaired one year after the procedure. Impaired learning and visuospatial function may be attributed to degeneration associated with PD.
Discussion In our sample, DBS-SN did <scp><neg>not</neg> result in <dis>global cognitive impairment</dis> 5 years after surgery</scp>. <dis>Verbal function was found to be significantly impaired</dis> one year after the procedure. <dis>Impaired learning and visuospatial function</dis> may be attributed to degeneration associated with PD.
[ { "offsets": [ 51, 78 ], "text": "global cognitive impairment", "type": "DISABILITY" }, { "offsets": [ 102, 156 ], "text": "Verbal function was found to be significantly impaired", "type": "DISABILITY" }, { "offsets": [ 187, 230 ], "text": "Impaired learning and visuospatial function", "type": "DISABILITY" } ]
Abstract Like anyone else, people with Down syndrome can suffer mental health problems that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.
S1138207410700671
Depression and Down syndrome
Keywords Depression Down syndrome Affective disorders Psychotherapy
Abstract Like anyone else, people with Down syndrome can suffer <dis>mental health problems</dis> that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.
Abstract Like anyone else, people with Down syndrome can suffer mental health problems that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.
Abstract Like anyone else, people with Down syndrome can suffer <dis>mental health problems</dis> that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.
[ { "offsets": [ 65, 87 ], "text": "mental health problems", "type": "DISABILITY" } ]
Abstract To assess the functional hearing ability of a small child with hearing loss, it is necessary to resort to different indirect tests that can reflect the information being provided by hearing aids, or by exploring what the child is doing with this acoustic information, mainly as regards the abilities in the acquisition and development of language.
S1137817412700596
Assessment of functional hearing ability in children with hearing impairments
Keywords Children's hearing Speech acoustics Hearing impairment Hearing development Deaf children Speech perception Functional assessment of hearing
Abstract To assess the functional hearing ability of a small child with <dis>hearing loss</dis>, it is necessary to resort to different indirect tests that can reflect the information being provided by hearing aids, or by exploring what the child is doing with this acoustic information, mainly as regards the abilities in the acquisition and development of language. From the results of this assessment, it can be determined if the adjustment is the best that this child can achieve at that time, or if modifications need to be made to optimise it and thus achieve the best intelligibility of speech in a variety of communication environments and situations.
Abstract To assess the functional hearing ability of a small child with hearing loss, it is necessary to resort to different indirect tests that can reflect the information being provided by hearing aids, or by exploring what the child is doing with this acoustic information, mainly as regards the abilities in the acquisition and development of language. From the results of this assessment, it can be determined if the adjustment is the best that this child can achieve at that time, or if modifications need to be made to optimise it and thus achieve the best intelligibility of speech in a variety of communication environments and situations.
Abstract To assess the functional hearing ability of a small child with <dis>hearing loss</dis>, it is necessary to resort to different indirect tests that can reflect the information being provided by hearing aids, or by exploring what the child is doing with this acoustic information, mainly as regards the abilities in the acquisition and development of language.
[ { "offsets": [ 73, 85 ], "text": "hearing loss", "type": "DISABILITY" } ]
Abstract Rubinstein–Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000–700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation.
S0034935616000499
Anesthetic management for thoracic surgery in Rubinstein–Taybi syndrome
Keywords Rubinstein–Taybi syndrome Chromosome disorders Airway management One-lung ventilation Esophageal perforation
Abstract Rubinstein–Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000–700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation. They also present <dis>mental retardation</dis> and comorbidity, such as congenital cardiac defects, pulmonary structural anomalies and recurrent respiratory infections, which increase the risk of aspiration pneumonia. Cardiac arrhythmias have been reported after the use of certain drugs such as succinylcholine and atropine, in a higher incidence than in general population. There is an increased risk of postoperative apnea–hypopnea in these patients. We report the anesthetic management in a RTS patient undergoing emergent thoracic surgery due to oesophageal perforation and mediastinitis. Lung isolation was achieved with a bronchial blocker guided with a fiberoptic bronchoscope and one-lung ventilation was performed successfully.
Abstract Rubinstein–Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000–700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation. They also present mental retardation and comorbidity, such as congenital cardiac defects, pulmonary structural anomalies and recurrent respiratory infections, which increase the risk of aspiration pneumonia. Cardiac arrhythmias have been reported after the use of certain drugs such as succinylcholine and atropine, in a higher incidence than in general population. There is an increased risk of postoperative apnea–hypopnea in these patients. We report the anesthetic management in a RTS patient undergoing emergent thoracic surgery due to oesophageal perforation and mediastinitis. Lung isolation was achieved with a bronchial blocker guided with a fiberoptic bronchoscope and one-lung ventilation was performed successfully.
Abstract Rubinstein–Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000–700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation.
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Methods We used female 3xTg-AD mice aged 11 months and compared them to non-transgenic mice of the same age. In both groups, we assessed motor performance (open field test) and neuronal damage in M1 using specific markers: BAM10 (extracellular Aβ aggregates), tau 499 (hyperphosphorylated tau protein), GFAP (astrocytes), and Klüver-Barrera staining (neurons).
S0213485317301548
Primary motor cortex alterations in Alzheimer disease: A study in the 3xTg-AD model
Keywords Alzheimer disease Triple transgenic mouse model Primary motor cortex Neuron Glia
Introduction In humans and animal models, Alzheimer disease (AD) is characterised by accumulation of amyloid-β peptide (Aβ) and hyperphosphorylated tau protein, neuronal degeneration, and astrocytic gliosis, especially in vulnerable brain regions (hippocampus and cortex). These alterations are associated with <dis>cognitive impairment</dis> (<dis>loss of memory</dis>) and <dis>non-cognitive impairment</dis> (<dis>motor impairment</dis>). The purpose of this study was to identify cell changes (neurons and glial cells) and aggregation of Aβ and hyperphosphorylated tau protein in the primary motor cortex (M1) in 3xTg-AD mouse models at an intermediate stage of AD. Methods We used female 3xTg-AD mice aged 11 months and compared them to non-transgenic mice of the same age. In both groups, we assessed motor performance (open field test) and neuronal damage in M1 using specific markers: BAM10 (extracellular Aβ aggregates), tau 499 (hyperphosphorylated tau protein), GFAP (astrocytes), and Klüver-Barrera staining (neurons). Results Female 3xTg-AD mice in intermediate stages of the disease displayed motor and cellular alterations associated with Aβ and hyperphosphorylated tau protein deposition in M1. Conclusions Patients with AD display signs and symptoms of <dis>functional impairment</dis> from early stages. According to our results, M1 cell damage in intermediate-stage AD affects motor function, which is linked to progression of the disease.
Introduction In humans and animal models, Alzheimer disease (AD) is characterised by accumulation of amyloid-β peptide (Aβ) and hyperphosphorylated tau protein, neuronal degeneration, and astrocytic gliosis, especially in vulnerable brain regions (hippocampus and cortex). These alterations are associated with cognitive impairment (loss of memory) and non-cognitive impairment (motor impairment). The purpose of this study was to identify cell changes (neurons and glial cells) and aggregation of Aβ and hyperphosphorylated tau protein in the primary motor cortex (M1) in 3xTg-AD mouse models at an intermediate stage of AD. Methods We used female 3xTg-AD mice aged 11 months and compared them to non-transgenic mice of the same age. In both groups, we assessed motor performance (open field test) and neuronal damage in M1 using specific markers: BAM10 (extracellular Aβ aggregates), tau 499 (hyperphosphorylated tau protein), GFAP (astrocytes), and Klüver-Barrera staining (neurons). Results Female 3xTg-AD mice in intermediate stages of the disease displayed motor and cellular alterations associated with Aβ and hyperphosphorylated tau protein deposition in M1. Conclusions Patients with AD display signs and symptoms of functional impairment from early stages. According to our results, M1 cell damage in intermediate-stage AD affects motor function, which is linked to progression of the disease.
Methods We used female 3xTg-AD mice aged 11 months and compared them to non-transgenic mice of the same age. In both groups, we assessed motor performance (open field test) and neuronal damage in M1 using specific markers: BAM10 (extracellular Aβ aggregates), tau 499 (hyperphosphorylated tau protein), GFAP (astrocytes), and Klüver-Barrera staining (neurons).
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The inter-rater reliability and test- retest reliability of the SPMSQ Spanish version were 0.738 (p < 0.001), and 0.925 (p < 0.001), respectively, with a convergent validity of 0.74 (p < 0.001) and a discriminant validity of 0.230 (p < 0.001). The internal consistency was high with an αvalue of 0.82.
S0025775301720404
Cross-cultural adaptation and validation of Pfeiffer’s test (Short Portable Mental Status Questionnaire [SPMSQ]) to screen cognitive impairment in general population aged 65 or older
Keywords Elderly Cognitive impairment SPMSQ Cross-cultural adaptation Validation
Background Our aims were to develop a Spanish version of the short portable mental status questionnaire (SPMSQ) (Pfeiffer’s test) and to validate the resultant Spanish version of the test among a general population aged 65 years or older. Patients, Material And Methods First, we developed the Spanish version of the SPMSQ by means of a cross- cultural adaptation methodology. Patients were the assessed by independent teams in two sessions the same day. The first team (two trained psychiatrists and one trained family physician) carried out a standardised neuropsychological assessment to diagnose <dis>cognitive impairment</dis>/<dis>dementia</dis> according to ICD-10 criteria wich was regarded as the reference “gold standard” to calculate validity parameters (sensitivity and specificity). The second team (family physicians/nurses) assessed the presence of <dis>cognitive impairment</dis> with the Spanish version of the SPMSQ. Results 255 subjects (66.7%, females) underwent the assessment. Mean age was 74.5 years and 65.5% of them were illiterate. The inter-rater reliability and test- retest reliability of the SPMSQ Spanish version were 0.738 (p < 0.001), and 0.925 (p < 0.001), respectively, with a convergent validity of 0.74 (p < 0.001) and a discriminant validity of 0.230 (p < 0.001). The internal consistency was high with an αvalue of 0.82. The area under the ROC curve was 0.89. Sensitivity and specificity were 85.7 and 79.3, respectively (cut-off of 3 or more). Conclusions The Spanish version of the SPMSQ test has a good reliability and validity. For clinical use, a cut-off of 3 appears to be most useful. When illiterate patients are assessed, the it is recommended to employ a cut-off of 4 or more.
Background Our aims were to develop a Spanish version of the short portable mental status questionnaire (SPMSQ) (Pfeiffer’s test) and to validate the resultant Spanish version of the test among a general population aged 65 years or older. Patients, Material And Methods First, we developed the Spanish version of the SPMSQ by means of a cross- cultural adaptation methodology. Patients were the assessed by independent teams in two sessions the same day. The first team (two trained psychiatrists and one trained family physician) carried out a standardised neuropsychological assessment to diagnose cognitive impairment/dementia according to ICD-10 criteria wich was regarded as the reference “gold standard” to calculate validity parameters (sensitivity and specificity). The second team (family physicians/nurses) assessed the presence of cognitive impairment with the Spanish version of the SPMSQ. Results 255 subjects (66.7%, females) underwent the assessment. Mean age was 74.5 years and 65.5% of them were illiterate. The inter-rater reliability and test- retest reliability of the SPMSQ Spanish version were 0.738 (p < 0.001), and 0.925 (p < 0.001), respectively, with a convergent validity of 0.74 (p < 0.001) and a discriminant validity of 0.230 (p < 0.001). The internal consistency was high with an αvalue of 0.82. The area under the ROC curve was 0.89. Sensitivity and specificity were 85.7 and 79.3, respectively (cut-off of 3 or more). Conclusions The Spanish version of the SPMSQ test has a good reliability and validity. For clinical use, a cut-off of 3 appears to be most useful. When illiterate patients are assessed, the it is recommended to employ a cut-off of 4 or more.
The inter-rater reliability and test- retest reliability of the SPMSQ Spanish version were 0.738 (p < 0.001), and 0.925 (p < 0.001), respectively, with a convergent validity of 0.74 (p < 0.001) and a discriminant validity of 0.230 (p < 0.001). The internal consistency was high with an αvalue of 0.82.
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This paper advocates that we consider the importance of interaction and communication in early language acquisition from a functional perspective, bearing in mind the complexity of the language system and the interconnections between cognitive, emotional and social aspects in the acquisition process, in addition to the specificities of children with DS in their overall development. As the focus in this case is early childhood, rather than working directly with the child the proposed intervention seeks to help parents find communicative strategies that enhance the interactions they have with their children.
S1138207408700265
The role of interaction and communication in early language acquisition among children with DS
Keywords Down Syndrome Mental Retardation Early childhood Language development Interaction and communication Communicative strategies
Abstract Children with Down Syndrome (DS) are children who grow and have interests, desires and needs just like any other child in their age group. Although <dis>mental retardation</dis> (<dis>MR</dis>) does give rise to certain syndrome-specific characteristics in their language development, these must not be treated in isolation because they have a bearing on other global development acquisitions. This paper advocates that we consider the importance of interaction and communication in early language acquisition from a functional perspective, bearing in mind the complexity of the language system and the interconnections between cognitive, emotional and social aspects in the acquisition process, in addition to the specificities of children with DS in their overall development. As the focus in this case is early childhood, rather than working directly with the child the proposed intervention seeks to help parents find communicative strategies that enhance the interactions they have with their children.
Abstract Children with Down Syndrome (DS) are children who grow and have interests, desires and needs just like any other child in their age group. Although mental retardation (MR) does give rise to certain syndrome-specific characteristics in their language development, these must not be treated in isolation because they have a bearing on other global development acquisitions. This paper advocates that we consider the importance of interaction and communication in early language acquisition from a functional perspective, bearing in mind the complexity of the language system and the interconnections between cognitive, emotional and social aspects in the acquisition process, in addition to the specificities of children with DS in their overall development. As the focus in this case is early childhood, rather than working directly with the child the proposed intervention seeks to help parents find communicative strategies that enhance the interactions they have with their children.
This paper advocates that we consider the importance of interaction and communication in early language acquisition from a functional perspective, bearing in mind the complexity of the language system and the interconnections between cognitive, emotional and social aspects in the acquisition process, in addition to the specificities of children with DS in their overall development. As the focus in this case is early childhood, rather than working directly with the child the proposed intervention seeks to help parents find communicative strategies that enhance the interactions they have with their children.
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Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with severe mental illnesses, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population.
S1888989109707141
Cardiovascular disease and diabetes in people with severe mental illness
Keywords Severe mental illness Schizophrenia Depression Bipolar disorder Physical health Weight gain Cardiovascular disease Diabetes
Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with <dis>severe mental illnesses</dis>, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population. The excess cardiovascular mortality associated with schizophrenia and bipolar disorder is attributed to an increased risk of the modifiable coronary heart disease risk factors, obesity, smoking, diabetes, hypertension, and dyslipidaemia. Antipsychotic medication and possibly other psychotropic medication like antidepressants can induce weight gain and further increase the risk of adverse metabolic effects which may result in further increased incidence of cardiovascular disease. Patients have limited access to general healthcare with less opportunity for cardiovascular risk screening and prevention than would be expected in a non- psychiatric population. The European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC) published this statement aiming to improve the care of patients suffering from <dis>severe mental illness</dis>. The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from <dis>severe mental illness</dis> to screen and treat increased cardiovascular risk factors and diabetes.
Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with severe mental illnesses, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population. The excess cardiovascular mortality associated with schizophrenia and bipolar disorder is attributed to an increased risk of the modifiable coronary heart disease risk factors, obesity, smoking, diabetes, hypertension, and dyslipidaemia. Antipsychotic medication and possibly other psychotropic medication like antidepressants can induce weight gain and further increase the risk of adverse metabolic effects which may result in further increased incidence of cardiovascular disease. Patients have limited access to general healthcare with less opportunity for cardiovascular risk screening and prevention than would be expected in a non- psychiatric population. The European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC) published this statement aiming to improve the care of patients suffering from severe mental illness. The intention is to initiate co-operation and shared care between the different health care professionals and to increase the awareness of psychiatrists caring for patients suffering from severe mental illness to screen and treat increased cardiovascular risk factors and diabetes.
Abstract Position statement from the European Psychiatric Association (EPA), supported by the European Association for the Study of Diabetes (EASD) and the European Society of Cardiology (ESC). People with <dis>severe mental illnesses</dis>, such as schizophrenia, depression or bipolar disorder, have worse physical health and reduced life expectancy compared to the general population.
[ { "offsets": [ 207, 230 ], "text": "severe mental illnesses", "type": "DISABILITY" } ]
The patients with dementia, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%).
S1134248X17300484
Specialized home care for patients with dementia
Keywords Dementia Palliative care Home care
Objective to Analyze the characteristics of patients with <dis>dementia</dis> attended by a home care support team and to establish whether there are differences from patients with other diseases. Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with <dis>dementia</dis> and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation. Data analysis with SPSS 15.0 software. Results Of all patients attended (N=638), 195 comprised the cohort of patients with <dis>dementia</dis> (30.7%). The most common cause was <dis>vascular dementia</dis> 40.4% (N=74). The average Global Deterioration Scale was 6±1.05, with an average score of 8.87 errors in the Pfeiffer test and average Barthel index of 11.9± 23. In the patients <scp><neg>without</neg> <dis>dementia</dis></scp>, significant differences were obtained in terms of functional and cognitive status (Barthel index of 52.34±38 and Pfeiffer test with an average score of 1.48 ±3.2 (P<.001)). The patients with <dis>dementia</dis>, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%). These are patients with lower mortality 31.8% versus 53.1%) and a reduced need for hospitalisation (6.7% versus 17.5%), with no differences in clinical activity. Conclusions Our results suggest that these patients have a slowly progressive symptomatic and functional profile that will require attention at times of crisis, hospital admissions could be reduced by adequate control of symptoms.
Objective to Analyze the characteristics of patients with dementia attended by a home care support team and to establish whether there are differences from patients with other diseases. Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with dementia and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation. Data analysis with SPSS 15.0 software. Results Of all patients attended (N=638), 195 comprised the cohort of patients with dementia (30.7%). The most common cause was vascular dementia 40.4% (N=74). The average Global Deterioration Scale was 6±1.05, with an average score of 8.87 errors in the Pfeiffer test and average Barthel index of 11.9± 23. In the patients without dementia, significant differences were obtained in terms of functional and cognitive status (Barthel index of 52.34±38 and Pfeiffer test with an average score of 1.48 ±3.2 (P<.001)). The patients with dementia, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%). These are patients with lower mortality 31.8% versus 53.1%) and a reduced need for hospitalisation (6.7% versus 17.5%), with no differences in clinical activity. Conclusions Our results suggest that these patients have a slowly progressive symptomatic and functional profile that will require attention at times of crisis, hospital admissions could be reduced by adequate control of symptoms.
The patients with <dis>dementia</dis>, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%).
[ { "offsets": [ 18, 26 ], "text": "dementia", "type": "DISABILITY" } ]
Results After reviewing 790 articles, the studies analyzed present great heterogeneity in the clinical characteristics of the patients recruited (sudden deafness, fluctuating and rapidly progressive hearing loss, Menière's disease), the inclusion and exclusion criteria, the delay between the diagnosis and the start of medical treatment or the response criteria. Conclusions The diagnosis of IMIED is based on clinical presentation and response to corticosteroids.
S0001651907749142
Immunomediated Inner Ear Disease: Diagnostic Validation by Means of a Systematic Analysis of the Scientific Literature
Key words Immunomediated inner ear disease Diagnostic tests Menière's disease Sudden deafness Fluctuating hearing loss Rapidly progressive hearing loss
Introduction Numerous tests have been developed to help in the diagnosis of the immunomediated inner ear disease (IMIED), although their usefulness is still the subject of some dispute. Material and method Studies of cohorts of patients with suspected IMIED have been reviewed. A number of different serological tests were carried out and their response to immunosuppressive therapy was noted. Results After reviewing 790 articles, the studies analyzed present great heterogeneity in the clinical characteristics of the patients recruited (<dis>sudden deafness</dis>, <dis>fluctuating and rapidly progressive hearing loss</dis>, Menière's disease), the inclusion and exclusion criteria, the delay between the diagnosis and the start of medical treatment or the response criteria. Conclusions The diagnosis of IMIED is based on clinical presentation and response to corticosteroids. At present no test represents the gold standard in the diagnosis of IMIED. Serologic tests can support the diagnosis, but a methodologically more rigorous approach is needed to identify the true clinical importance of these tests for daily practice.
Introduction Numerous tests have been developed to help in the diagnosis of the immunomediated inner ear disease (IMIED), although their usefulness is still the subject of some dispute. Material and method Studies of cohorts of patients with suspected IMIED have been reviewed. A number of different serological tests were carried out and their response to immunosuppressive therapy was noted. Results After reviewing 790 articles, the studies analyzed present great heterogeneity in the clinical characteristics of the patients recruited (sudden deafness, fluctuating and rapidly progressive hearing loss, Menière's disease), the inclusion and exclusion criteria, the delay between the diagnosis and the start of medical treatment or the response criteria. Conclusions The diagnosis of IMIED is based on clinical presentation and response to corticosteroids. At present no test represents the gold standard in the diagnosis of IMIED. Serologic tests can support the diagnosis, but a methodologically more rigorous approach is needed to identify the true clinical importance of these tests for daily practice.
Results After reviewing 790 articles, the studies analyzed present great heterogeneity in the clinical characteristics of the patients recruited (<dis>sudden deafness</dis>, <dis>fluctuating and rapidly progressive hearing loss</dis>, Menière's disease), the inclusion and exclusion criteria, the delay between the diagnosis and the start of medical treatment or the response criteria. Conclusions The diagnosis of IMIED is based on clinical presentation and response to corticosteroids.
[ { "offsets": [ 146, 161 ], "text": "sudden deafness", "type": "DISABILITY" }, { "offsets": [ 163, 211 ], "text": "fluctuating and rapidly progressive hearing loss", "type": "DISABILITY" } ]
Most of the psychoactive substances analysed involve a risk factor for current mental disorder, especially as regards the use of psychotropic drugs (OR: 2.04, 95% CI: 1.54–2.71) and cannabis (OR: 1.81, 95% CI: 1.47–2.24).
S2445424917300304
Alcohol and drug use as factors associated with mental disorders among the incarcerated population in Spain
Keywords Prisons Mental disorders Drugs of abuse Alcohol Spain
Abstract Objective Previous research supports the relationship between the use of alcohol and other drugs and <dis>mental disorders</dis>. The aim of this study was to analyse the association between drug and alcohol use prior to incarceration and the current prevalence of <dis>mental disorders</dis> among the incarcerated population in Spain. Material and methods A cross-sectional study was conducted, including to 2709 incarcerated subjects (2484 males and 225 females) from a total of 8 prisons. A self-administered anonymous and voluntary questionnaire was used. The prevalence of psychoactive substance use prior to imprisonment and the current prevalence of <dis>mental disorders</dis> was calculated. The association between the two variables was analysed with logistic regression for both genders. Results Alcohol was the most consumed substance in the 6 months prior to detention for both men and women (68.5 and 48.9%, respectively) followed by cannabis (50.9 and 38.2%, respectively). The prevalence of <dis>mental disorders</dis> in prison was statically significant for men and women (24.9 and 34.2%, respectively). Most of the psychoactive substances analysed involve a risk factor for current <dis>mental disorder</dis>, especially as regards the use of psychotropic drugs (OR: 2.04, 95% CI: 1.54–2.71) and cannabis (OR: 1.81, 95% CI: 1.47–2.24). Discussion We found an association between alcohol and drug use and the current prevalence of <dis>mental disorders</dis> among the incarcerated population sample. Furthermore, it is recommended to develop effective protocols for treatment and rehabilitation programmes in prison. These should suit inmates’ history of drug and alcohol use to improve mental health strategies.
Abstract Objective Previous research supports the relationship between the use of alcohol and other drugs and mental disorders. The aim of this study was to analyse the association between drug and alcohol use prior to incarceration and the current prevalence of mental disorders among the incarcerated population in Spain. Material and methods A cross-sectional study was conducted, including to 2709 incarcerated subjects (2484 males and 225 females) from a total of 8 prisons. A self-administered anonymous and voluntary questionnaire was used. The prevalence of psychoactive substance use prior to imprisonment and the current prevalence of mental disorders was calculated. The association between the two variables was analysed with logistic regression for both genders. Results Alcohol was the most consumed substance in the 6 months prior to detention for both men and women (68.5 and 48.9%, respectively) followed by cannabis (50.9 and 38.2%, respectively). The prevalence of mental disorders in prison was statically significant for men and women (24.9 and 34.2%, respectively). Most of the psychoactive substances analysed involve a risk factor for current mental disorder, especially as regards the use of psychotropic drugs (OR: 2.04, 95% CI: 1.54–2.71) and cannabis (OR: 1.81, 95% CI: 1.47–2.24). Discussion We found an association between alcohol and drug use and the current prevalence of mental disorders among the incarcerated population sample. Furthermore, it is recommended to develop effective protocols for treatment and rehabilitation programmes in prison. These should suit inmates’ history of drug and alcohol use to improve mental health strategies.
Most of the psychoactive substances analysed involve a risk factor for current <dis>mental disorder</dis>, especially as regards the use of psychotropic drugs (OR: 2.04, 95% CI: 1.54–2.71) and cannabis (OR: 1.81, 95% CI: 1.47–2.24).
[ { "offsets": [ 79, 94 ], "text": "mental disorder", "type": "DISABILITY" } ]
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment.
S030448581200039X
Efficacy of swallowing maneuvers and oral motor exercises in dysphagia due to a severe traumatic brain injury in adults
Keywords Traumatic brain injury Dysphagia Videofluoroscopy Swallowing maneuvres Oral motor exercises Functional magnetic resonance imaging
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of <dis>dysphagia</dis> depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of <dis>dysphagia</dis> is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment.
[ { "offsets": [ 104, 124 ], "text": "Swallowing disorders", "type": "DISABILITY" }, { "offsets": [ 210, 219 ], "text": "dysphagia", "type": "DISABILITY" } ]
Introduction Based on the levels of visual disability reported by World Health Organization, has been prepared the National Campaign for Amblyopia and Strabismus in Mexico, with the Mexican Center of Strabismus, the Mexican Society of Ophthalmology, and the Mexican Council of Ophthalmology, with the objective of establishing a screening program in amblyopia in the general population.
S0187451917300847
Amblyopia and strabismus screening program. Mexico 2016
Keywords Amblyopia Strabismus Visual disability Public health Blindness
Introduction Based on the levels of <dis>visual disability</dis> reported by World Health Organization, has been prepared the National Campaign for Amblyopia and Strabismus in Mexico, with the Mexican Center of Strabismus, the Mexican Society of Ophthalmology, and the Mexican Council of Ophthalmology, with the objective of establishing a screening program in amblyopia in the general population. Method A public screening program was designed in 4 phases, from the program and organization of sites, a preparatory course, to the analysis of results, from May 2016 to January 2017. Results Ninety sites were organized in Mexico, 1,028 people were studied, aged 17.4±19 years, 727 were children aged 6.7±3 years. Several alerts were obtained that demonstrate the problematic and the requirements of public health. Conclusions The high levels of <dis>visual disability</dis> in the world population requires better strategies, as demonstrated by the National Campaign for Amblyopia in Mexico. It has to be considered a permanent information to the public, facilitating access to the first-level medical service; promoting early care of vulnerable groups; medical actualization; communication with health leaders that generates cost-effective strategies for early detection and treatment, controlled by laws that results in the reduction of <dis>visual disability</dis>. Fourteen Iberomerican countries joined the campaign because finally the causes of amblyopia are the same, the lack of information is repeated, and the numbers of disability increase.
Introduction Based on the levels of visual disability reported by World Health Organization, has been prepared the National Campaign for Amblyopia and Strabismus in Mexico, with the Mexican Center of Strabismus, the Mexican Society of Ophthalmology, and the Mexican Council of Ophthalmology, with the objective of establishing a screening program in amblyopia in the general population. Method A public screening program was designed in 4 phases, from the program and organization of sites, a preparatory course, to the analysis of results, from May 2016 to January 2017. Results Ninety sites were organized in Mexico, 1,028 people were studied, aged 17.4±19 years, 727 were children aged 6.7±3 years. Several alerts were obtained that demonstrate the problematic and the requirements of public health. Conclusions The high levels of visual disability in the world population requires better strategies, as demonstrated by the National Campaign for Amblyopia in Mexico. It has to be considered a permanent information to the public, facilitating access to the first-level medical service; promoting early care of vulnerable groups; medical actualization; communication with health leaders that generates cost-effective strategies for early detection and treatment, controlled by laws that results in the reduction of visual disability. Fourteen Iberomerican countries joined the campaign because finally the causes of amblyopia are the same, the lack of information is repeated, and the numbers of disability increase.
Introduction Based on the levels of <dis>visual disability</dis> reported by World Health Organization, has been prepared the National Campaign for Amblyopia and Strabismus in Mexico, with the Mexican Center of Strabismus, the Mexican Society of Ophthalmology, and the Mexican Council of Ophthalmology, with the objective of establishing a screening program in amblyopia in the general population.
[ { "offsets": [ 36, 53 ], "text": "visual disability", "type": "DISABILITY" } ]
Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms.
S0025775311004362
Neuropsychiatric disturbances in essential tremor
Keywords Essential tremor Emotional dysfunction Cognitive dysfunction Dementia Mild cognitive impairment Neurologic manifestations Cerebellar disorder Neurodegeneration
Abstract This review focuses on the neuropsychiatric manifestations (<dis>personality disturbances</dis>, depressive symptoms, <dis>cognitive impairment</dis> and <dis>dementia</dis>), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., <dis>ataxic gait</dis>). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.
Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.
Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms.
[ { "offsets": [ 101, 126 ], "text": "mild cognitive impairment", "type": "DISABILITY" }, { "offsets": [ 131, 139 ], "text": "dementia", "type": "DISABILITY" } ]
Lack of alignment with primary care was perceived to be the most serious barrier to access, ahead of problems with insurance and prejudice towards treatment with methadone (p<0.05). Health Administration and insurance problems (p<0.003), together with the lack of availability of methadone (p<0.018) and relapse (p<0.014) were the most important reasons for abandonment of treatment. Conclusions. The treatment protocols of these programmes offer different levels of development and implementation.
S0034745017300938
Facing the Growing Heroin Problem in Colombia: The New Methadone-assisted Treatment Programs
Keywords Methadone-assisted treatment Heroin Colombia HIV Hepatitis C Primary care
Objective. Colombia is facing a rising epidemic of intravenous heroin use. Knowledge of the methadone-assisted treatment programs in the country is crucial in order to propose improvement strategies. Methods. 13 programmes from priority regions were surveyed. The demographic and clinical characteristics of the patients attending the programs, a description of the services offered, their methadone treatment protocols, the various barriers to treatment and the causes of treatment abandonment were reviewed. Results. 12/13 questionnaires were analysed with a total of 538 active patients. Most of the patients attending these programs were men (85.5%) between 18 and 34 years-old (70%). Forty percent (40%) were intravenous drug users and 25% admitted sharing needles. The comorbidities associated with heroin use were <dis>mental illness</dis> (48%), hepatitis C (8.7%) and HIV (2%). Psychiatric comorbidity was more likely in patients attending the private sector (69.8% vs 29.7%; p<0.03). The initial average dose of methadone administered was 25.3±8.9mg/day, with a maintenance dose ranging from 41 to 80mg/day. Lack of alignment with primary care was perceived to be the most serious barrier to access, ahead of problems with insurance and prejudice towards treatment with methadone (p<0.05). Health Administration and insurance problems (p<0.003), together with the lack of availability of methadone (p<0.018) and relapse (p<0.014) were the most important reasons for abandonment of treatment. Conclusions. The treatment protocols of these programmes offer different levels of development and implementation. Some of the barriers to access and reasons for abandonment of treatment with methadone can be mitigated with better health administration.
Objective. Colombia is facing a rising epidemic of intravenous heroin use. Knowledge of the methadone-assisted treatment programs in the country is crucial in order to propose improvement strategies. Methods. 13 programmes from priority regions were surveyed. The demographic and clinical characteristics of the patients attending the programs, a description of the services offered, their methadone treatment protocols, the various barriers to treatment and the causes of treatment abandonment were reviewed. Results. 12/13 questionnaires were analysed with a total of 538 active patients. Most of the patients attending these programs were men (85.5%) between 18 and 34 years-old (70%). Forty percent (40%) were intravenous drug users and 25% admitted sharing needles. The comorbidities associated with heroin use were mental illness (48%), hepatitis C (8.7%) and HIV (2%). Psychiatric comorbidity was more likely in patients attending the private sector (69.8% vs 29.7%; p<0.03). The initial average dose of methadone administered was 25.3±8.9mg/day, with a maintenance dose ranging from 41 to 80mg/day. Lack of alignment with primary care was perceived to be the most serious barrier to access, ahead of problems with insurance and prejudice towards treatment with methadone (p<0.05). Health Administration and insurance problems (p<0.003), together with the lack of availability of methadone (p<0.018) and relapse (p<0.014) were the most important reasons for abandonment of treatment. Conclusions. The treatment protocols of these programmes offer different levels of development and implementation. Some of the barriers to access and reasons for abandonment of treatment with methadone can be mitigated with better health administration.
Lack of alignment with primary care was perceived to be the most serious barrier to access, ahead of problems with insurance and prejudice towards treatment with methadone (p<0.05). Health Administration and insurance problems (p<0.003), together with the lack of availability of methadone (p<0.018) and relapse (p<0.014) were the most important reasons for abandonment of treatment. Conclusions. The treatment protocols of these programmes offer different levels of development and implementation.
[]
139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief.
S1888989114000597
Development of the Spanish Brief-version of the University of California Performance Skills Assessment (Sp-UPSA-Brief) in patients with schizophrenia and bipolar disorder
Keywords Sp-UPSA-Brief Functional capacity Psychometric properties Schizophrenia Bipolar disorder
Abstract Introduction In patients with <dis>severe mental disorders</dis> outcome measurement should include symptoms, cognition, functioning and quality of life at least. Shorter and efficient instruments have greater potential for pragmatic and valid clinical utility. Our aim was to develop the Spanish UPSA Brief scale (Sp-UPSA-Brief). Material and methods Naturalistic, 6-month follow-up, multicentre study. 139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief. Results The stepwise regression model for patients with schizophrenia showed that communication and transportation Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.88, model _df_ = 2, F = 395.05). In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively. Pearson correlation coefficients between Sp-UPSA and Sp-UPSA-Brief were 0.93 for schizophrenia and 0.92 for bipolar patients (p < 0.0001). The Sp-UPSA-Brief discriminated between patients and controls. In schizophrenia patients it also discriminated among different levels of illness severity according to CGI-S scores. Conclusion The Sp-UPSA-Brief is an alternate instrument to evaluate functional capacity that is valid and reliable. Having a shorter instrument makes it more feasible to assess functional capacity in patients with <dis>severe mental disorders</dis>, especially in everyday clinical practice.
Abstract Introduction In patients with severe mental disorders outcome measurement should include symptoms, cognition, functioning and quality of life at least. Shorter and efficient instruments have greater potential for pragmatic and valid clinical utility. Our aim was to develop the Spanish UPSA Brief scale (Sp-UPSA-Brief). Material and methods Naturalistic, 6-month follow-up, multicentre study. 139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief. Results The stepwise regression model for patients with schizophrenia showed that communication and transportation Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.88, model _df_ = 2, F = 395.05). In patients with bipolar disorder transportation and communication Sp-UPSA subscales entered first and second at p < 0.0001 (R2 = 0.87, model df = 2, F = 132.32). Cronbach's _alpha_ was 0.78 in schizophrenia and 0.64 in bipolar patients. Test-retest was 0.66 and 0.64 (p < 0.0001) respectively. Pearson correlation coefficients between Sp-UPSA and Sp-UPSA-Brief were 0.93 for schizophrenia and 0.92 for bipolar patients (p < 0.0001). The Sp-UPSA-Brief discriminated between patients and controls. In schizophrenia patients it also discriminated among different levels of illness severity according to CGI-S scores. Conclusion The Sp-UPSA-Brief is an alternate instrument to evaluate functional capacity that is valid and reliable. Having a shorter instrument makes it more feasible to assess functional capacity in patients with severe mental disorders, especially in everyday clinical practice.
139 patients with schizophrenia, 57 with bipolar disorder and 31 controls were evaluated using the Sp-UPSA, CGI-S, GAF, and PSP. We conducted a multivariate linear regression model to identify candidate subscales for the Sp-UPSA-Brief.
[]
Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
S030448581200039X
Efficacy of swallowing maneuvers and oral motor exercises in dysphagia due to a severe traumatic brain injury in adults
Keywords Traumatic brain injury Dysphagia Videofluoroscopy Swallowing maneuvres Oral motor exercises Functional magnetic resonance imaging
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of <dis>dysphagia</dis> depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of <dis>dysphagia</dis> is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.
[]
Abstract Toxic epidermal necrolysis (TEN) is an exfoliative skin disorder that is associated with a high mortality rate. Its pathophysiology is similar to that of superficial burn injuries. Treatment and optimal care of these patients are best performed in Intensive Care Burn Units, with special attention to fluid resuscitation, respiratory support, early identification of sings of sepsis, and immunosuppresive therapy with cyclosporin A.
S1130862106712293
Lyell's syndrome. Specialized nursing care
Key words Toxic epidermal necrolysis Nursing care Critical care Complications Burns Blindness
Abstract Toxic epidermal necrolysis (TEN) is an exfoliative skin disorder that is associated with a high mortality rate. Its pathophysiology is similar to that of superficial burn injuries. Treatment and optimal care of these patients are best performed in Intensive Care Burn Units, with special attention to fluid resuscitation, respiratory support, early identification of sings of sepsis, and immunosuppresive therapy with cyclosporin A. Approach to the treatment of TEN is multidisciplinary, and there is a central and fundamental role of nursing care, particularly in the identification of signs of hypovolemia, respiratory failure, infection and pain. Among the specific care required by these patients is the care of mucosal surfaces, to prevent serious sequelae such as <dis>blindness</dis>. Specialized nursing care of patients with TEN contributes to an increase in the survival rate and a decrease in the incidence of complications.
Abstract Toxic epidermal necrolysis (TEN) is an exfoliative skin disorder that is associated with a high mortality rate. Its pathophysiology is similar to that of superficial burn injuries. Treatment and optimal care of these patients are best performed in Intensive Care Burn Units, with special attention to fluid resuscitation, respiratory support, early identification of sings of sepsis, and immunosuppresive therapy with cyclosporin A. Approach to the treatment of TEN is multidisciplinary, and there is a central and fundamental role of nursing care, particularly in the identification of signs of hypovolemia, respiratory failure, infection and pain. Among the specific care required by these patients is the care of mucosal surfaces, to prevent serious sequelae such as blindness. Specialized nursing care of patients with TEN contributes to an increase in the survival rate and a decrease in the incidence of complications.
Abstract Toxic epidermal necrolysis (TEN) is an exfoliative skin disorder that is associated with a high mortality rate. Its pathophysiology is similar to that of superficial burn injuries. Treatment and optimal care of these patients are best performed in Intensive Care Burn Units, with special attention to fluid resuscitation, respiratory support, early identification of sings of sepsis, and immunosuppresive therapy with cyclosporin A.
[]
Abstract Fragile-X syndrome is an inherited form of mental retardation with a connective tissue component involving mitral valve prolapse. The most frequent manifestations of fragile-X syndrome are learning disability, orofacial morphological alterations and macroorchidism. The usefulness of advanced haemodynamic monitoring for goal-directed therapy is increasingly high during neurosurgical procedures.
S0120334715000738
Haemodynamic management by non invasive cardiac output monitor for emergency craniotomy in fragile X syndrome: Case report
Keywords Blood pressure Hemodynamics Cerebrovascular trauma Heart valve diseases Fragile X syndrome
Abstract Fragile-X syndrome is an inherited form of <dis>mental retardation</dis> with a connective tissue component involving mitral valve prolapse. The most frequent manifestations of fragile-X syndrome are <dis>learning disability</dis>, orofacial morphological alterations and macroorchidism. The usefulness of advanced haemodynamic monitoring for goal-directed therapy is increasingly high during neurosurgical procedures. Non-invasive cardiac output monitoring may be considered as a new alternative for emergency neurosurgical procedures. Our aim was to detect hemodynamic changes in a syndromic fragile-X patient, given the usual concomitant presentation of cardiovascular disease, such as mitral valve prolapse and dilated aortic root, in an attempt at obtaining the best intraoperative and postoperative neurological outcomes without worsening cardiovascular function, by means of individualised intra-operative goal directed therapy. This type of non-invasive monitoring allows surgery to proceed without delay and provides excellent information of the hemodynamic status. This syndrome is relevant due to its anaesthetic implications and the paucity of cases published to date.
Abstract Fragile-X syndrome is an inherited form of mental retardation with a connective tissue component involving mitral valve prolapse. The most frequent manifestations of fragile-X syndrome are learning disability, orofacial morphological alterations and macroorchidism. The usefulness of advanced haemodynamic monitoring for goal-directed therapy is increasingly high during neurosurgical procedures. Non-invasive cardiac output monitoring may be considered as a new alternative for emergency neurosurgical procedures. Our aim was to detect hemodynamic changes in a syndromic fragile-X patient, given the usual concomitant presentation of cardiovascular disease, such as mitral valve prolapse and dilated aortic root, in an attempt at obtaining the best intraoperative and postoperative neurological outcomes without worsening cardiovascular function, by means of individualised intra-operative goal directed therapy. This type of non-invasive monitoring allows surgery to proceed without delay and provides excellent information of the hemodynamic status. This syndrome is relevant due to its anaesthetic implications and the paucity of cases published to date.
Abstract Fragile-X syndrome is an inherited form of <dis>mental retardation</dis> with a connective tissue component involving mitral valve prolapse. The most frequent manifestations of fragile-X syndrome are <dis>learning disability</dis>, orofacial morphological alterations and macroorchidism. The usefulness of advanced haemodynamic monitoring for goal-directed therapy is increasingly high during neurosurgical procedures.
[ { "offsets": [ 53, 71 ], "text": "mental retardation", "type": "DISABILITY" }, { "offsets": [ 199, 218 ], "text": "learning disability", "type": "DISABILITY" } ]
Abstract —Pterygium inversum unguis is an uncommon anomaly of the distal part of the nail bed. It remains adherent to the ventral surface of the nail plate resulting in the extension of the hyponichium outside the usual limits and producing the obliteration of the distal cleft. This nail disorder may be congenital or acquired. The acquired secondary forms are the most common, usually related to conective tissue diseases.
S0001731003767489
Pterygium Inversum Unguis
Key words pterygium inversum unguis idiopathic
Abstract —Pterygium inversum unguis is an uncommon anomaly of the distal part of the nail bed. It remains adherent to the ventral surface of the nail plate resulting in the extension of the hyponichium outside the usual limits and producing the obliteration of the distal cleft. This nail disorder may be congenital or acquired. The acquired secondary forms are the most common, usually related to conective tissue diseases. We report a 22 year-old girl with <dis>slight mental retardation</dis> who consulted complaining of a nail deformity on the first fingers of her hands. This deformity consisted of adherence of the distal part of the nail bed to the ventral surface of the nail plate showing the distal groove obliterated. It had arisen in the last five years. Patient denied trauma or use nail polish. Analysis performed to rule out associated systemic diseases were negative.
Abstract —Pterygium inversum unguis is an uncommon anomaly of the distal part of the nail bed. It remains adherent to the ventral surface of the nail plate resulting in the extension of the hyponichium outside the usual limits and producing the obliteration of the distal cleft. This nail disorder may be congenital or acquired. The acquired secondary forms are the most common, usually related to conective tissue diseases. We report a 22 year-old girl with slight mental retardation who consulted complaining of a nail deformity on the first fingers of her hands. This deformity consisted of adherence of the distal part of the nail bed to the ventral surface of the nail plate showing the distal groove obliterated. It had arisen in the last five years. Patient denied trauma or use nail polish. Analysis performed to rule out associated systemic diseases were negative.
Abstract —Pterygium inversum unguis is an uncommon anomaly of the distal part of the nail bed. It remains adherent to the ventral surface of the nail plate resulting in the extension of the hyponichium outside the usual limits and producing the obliteration of the distal cleft. This nail disorder may be congenital or acquired. The acquired secondary forms are the most common, usually related to conective tissue diseases.
[]
Abstract Diabetes mellitus is considered a risk factor for sensorineural sudden deafness. Its pathogenesis remains unknown. However, the physiopathological implication of a hyperviscosity syndrom in diabetics and patients bearing of sudden deafness can mean the nexus between the two entities.
S0001651902783040
Sensorineural sudden deafness, blood viscosity syndrom and diabetes mellitus
Key words Sudden deafness Sensorineural hearing loss Diabetes mellitus Blood viscosity
Abstract Diabetes mellitus is considered a risk factor for <dis>sensorineural sudden deafness</dis>. Its pathogenesis remains unknown. However, the physiopathological implication of a hyperviscosity syndrom in diabetics and patients bearing of <dis>sudden deafness</dis> can mean the nexus between the two entities. Total blood viscosity and erythrocyte adhesion were haemorheological parameters significatively higher in blood of diabetics with <dis>sudden deafness</dis> than in normal hearing controls. Moreover, erythrocyte filterability and deformability were lower in diabetics, but it was not statistically significative. These findings help to guide therapy in these patients towards specific measures to improve blood viscoelastic properties.
Abstract Diabetes mellitus is considered a risk factor for sensorineural sudden deafness. Its pathogenesis remains unknown. However, the physiopathological implication of a hyperviscosity syndrom in diabetics and patients bearing of sudden deafness can mean the nexus between the two entities. Total blood viscosity and erythrocyte adhesion were haemorheological parameters significatively higher in blood of diabetics with sudden deafness than in normal hearing controls. Moreover, erythrocyte filterability and deformability were lower in diabetics, but it was not statistically significative. These findings help to guide therapy in these patients towards specific measures to improve blood viscoelastic properties.
Abstract Diabetes mellitus is considered a risk factor for <dis>sensorineural sudden deafness</dis>. Its pathogenesis remains unknown. However, the physiopathological implication of a hyperviscosity syndrom in diabetics and patients bearing of <dis>sudden deafness</dis> can mean the nexus between the two entities.
[ { "offsets": [ 60, 89 ], "text": "sensorineural sudden deafness", "type": "DISABILITY" }, { "offsets": [ 234, 249 ], "text": "sudden deafness", "type": "DISABILITY" } ]
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends.
S0001651909000454
Paediatric cochlear implantation in the critical period of the auditory pathway, our experience
Keywords Brain plasticity Early implantation Critical period Sensitive period Cochlear implant results
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in <dis>prelingual deaf</dis> children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering <dis>profound prelingual bilateral sensorineural hearing loss</dis> who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. Results The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. Conclusions Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation.
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. Methods We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. Results The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. Conclusions Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation.
Abstract Introduction Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in <dis>prelingual deaf</dis> children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends.
[ { "offsets": [ 252, 267 ], "text": "prelingual deaf", "type": "DISABILITY" } ]
Compliance was not a problem in the use of hip protectors in a high-risk population in the hospital-admission setting but was weaker in the community setting.
S0211139X08751898
Acceptability and compliance with the use of hip protectors in elderly patients with dementia admitted to a psychogeriatric unit
Key words Dementia Hip protectors Femur fractures Acceptability Compliance
Objective to detect the percentage of patients with <dis>dementia</dis> admitted to a psychogeriatric department, who have a high risk of falls, and to evaluate acceptance and compliance with hip protectors during their stay in hospital and 2 weeks and 3 months after discharge. Material and methods we performed a hospital-based prospective cohort study. Risk of falling was evaluated on the basis of immediate bipedal standing instability or abnormal semi-tandem posture, a get-up-and-go test time of more than 20 seconds, or clinical judgement. Compliance during hospital stay was evaluated through nursing records and compliance outside hospital by telephone interviews at 15 days and 3 months after discharge. Results a total of 115 patients consecutively admitted to the psychogeriatric department of the Santa Creu Hospital in Vic were assessed. Sixty patients (52.2%) were excluded from the study, the main reason being dependence on another person for walking. Of the 55 patients included, 44 (80.0%) had a high risk of falls and were candidates for hip protectors. In-hospital compliance was 80.5% (95% CI: 65.1-91.2). The most common cause of non-compliance was removal of the hip protector by the patient. Compliance after discharge was 64.5% (95% CI: 45.4-80.8) at 2 weeks and 57.1% (95% CI: 28.9-82.4) at 3 months. Conclusions a high risk of falling was found in a large percentage of patients with <dis>dementia</dis> who were <scp><neg>not</neg> <dis>dependent on others for walking</dis></scp>. Compliance was not a problem in the use of hip protectors in a high-risk population in the hospital-admission setting but was weaker in the community setting.
Objective to detect the percentage of patients with dementia admitted to a psychogeriatric department, who have a high risk of falls, and to evaluate acceptance and compliance with hip protectors during their stay in hospital and 2 weeks and 3 months after discharge. Material and methods we performed a hospital-based prospective cohort study. Risk of falling was evaluated on the basis of immediate bipedal standing instability or abnormal semi-tandem posture, a get-up-and-go test time of more than 20 seconds, or clinical judgement. Compliance during hospital stay was evaluated through nursing records and compliance outside hospital by telephone interviews at 15 days and 3 months after discharge. Results a total of 115 patients consecutively admitted to the psychogeriatric department of the Santa Creu Hospital in Vic were assessed. Sixty patients (52.2%) were excluded from the study, the main reason being dependence on another person for walking. Of the 55 patients included, 44 (80.0%) had a high risk of falls and were candidates for hip protectors. In-hospital compliance was 80.5% (95% CI: 65.1-91.2). The most common cause of non-compliance was removal of the hip protector by the patient. Compliance after discharge was 64.5% (95% CI: 45.4-80.8) at 2 weeks and 57.1% (95% CI: 28.9-82.4) at 3 months. Conclusions a high risk of falling was found in a large percentage of patients with dementia who were not dependent on others for walking. Compliance was not a problem in the use of hip protectors in a high-risk population in the hospital-admission setting but was weaker in the community setting.
Compliance was not a problem in the use of hip protectors in a high-risk population in the hospital-admission setting but was weaker in the community setting.
[]
The computed tomography of the ears showed bilateral Mondini deformity.
S0001651911000574
Mondini deformity in a case of Turner syndrome. A radiological finding
Keywords Mondini deformity Turner syndrome Cochlear malformation
Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. <dis>Progressive sensorineural hearing loss</dis> is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented <dis>progressive sensorineural hearing loss</dis>. The computed tomography of the ears showed bilateral Mondini deformity.
Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity.
The computed tomography of the ears showed bilateral Mondini deformity.
[]
Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for gait impairment in Spanish adults with MS.
S0213485315002698
A guide to treating gait impairment with prolonged-release fampridine (Fampyra®) in patients with multiple sclerosis
Keywords Fampridine Gait impairment Quality of life Multiple sclerosis T25FW MSWS-12
Introduction <dis>Gait impairment</dis>, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in <dis>progressive loss of personal and social autonomy, along with work productivity</dis>. This guide aims to provide recommendations on how to evaluate <dis>gait impairment</dis> and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with <dis>gait impairment</dis> in Spain. Development PR-fampridine dosed at 10mg every 12hours is currently the only drug approved to treat <dis>gait impairment</dis> in adults with MS. Additionally, PR-fampridine has been shown in clinical practice to significantly improve quality of life (QoL) in patients who respond to treatment. Treatment response can be assessed with the Timed 25-Foot Walk (T25FW) or the 12-item MS Walking Scale (MSWS-12); tests should be completed before and after starting treatment. The minimum time recommended for evaluating treatment response is 2 weeks after treatment onset. Patients are considered responders and permitted to continue the treatment when they demonstrate a decrease in their T25FW time or an increase in MSWS-12 scores. A re-evaluation is recommended at least every 6 months. The SF-36 (Short Form-36) and the MSIS-29 (MS Impact Scale-29) tests are recommended for clinicians interested in performing a detailed QoL assessment. This drug is generally well-tolerated and has a good safety profile. It should be taken on an empty stomach and renal function must be monitored regularly. Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for <dis>gait impairment</dis> in Spanish adults with MS.
Introduction Gait impairment, a frequent sign in multiple sclerosis (MS), places a major burden on patients since it results in progressive loss of personal and social autonomy, along with work productivity. This guide aims to provide recommendations on how to evaluate gait impairment and use prolonged-release fampridine (PR-fampridine) as treatment for MS patients with gait impairment in Spain. Development PR-fampridine dosed at 10mg every 12hours is currently the only drug approved to treat gait impairment in adults with MS. Additionally, PR-fampridine has been shown in clinical practice to significantly improve quality of life (QoL) in patients who respond to treatment. Treatment response can be assessed with the Timed 25-Foot Walk (T25FW) or the 12-item MS Walking Scale (MSWS-12); tests should be completed before and after starting treatment. The minimum time recommended for evaluating treatment response is 2 weeks after treatment onset. Patients are considered responders and permitted to continue the treatment when they demonstrate a decrease in their T25FW time or an increase in MSWS-12 scores. A re-evaluation is recommended at least every 6 months. The SF-36 (Short Form-36) and the MSIS-29 (MS Impact Scale-29) tests are recommended for clinicians interested in performing a detailed QoL assessment. This drug is generally well-tolerated and has a good safety profile. It should be taken on an empty stomach and renal function must be monitored regularly. Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for gait impairment in Spanish adults with MS.
Conclusions These recommendations will help ensure safer and more efficient prescription practices and easier management of PR-fampridine as treatment for <dis>gait impairment</dis> in Spanish adults with MS.
[ { "offsets": [ 155, 170 ], "text": "gait impairment", "type": "DISABILITY" } ]
The use of non-mydriatic cameras and telemedicine have been shown to be useful in this regard (sensitivity > 80% and specificity > 90%). If this procedure is followed, the first retinography should be performed 5 years from diagnosis in type 1 diabetics and immediately after diagnosis in type 2 diabetics. Therefore the role of the Primary Care physician is crucial to enable early diagnosis of this disease.
S1138359315002488
Update of diabetic retinopathy for Primary Care physicians: Towards an improvement of telematic medicine
Keywords Diabetic retinopathy Macular oedema Telemedicine Prevention and control
Abstract Diabetic retinopathy (DR) is considered the most common cause of <dis>blindness</dis> in the working-age population in industrialised countries, with diabetic macular oedema being the most common reason of decreased visual acuity in diabetics. According to the results of large multicentre studies, <dis>blindness</dis> prevention for RD involves conducting periodic check-ups, which include examinations of the back of the eye, so they can be treated in time. The use of non-mydriatic cameras and telemedicine have been shown to be useful in this regard (sensitivity > 80% and specificity > 90%). If this procedure is followed, the first retinography should be performed 5 years from diagnosis in type 1 diabetics and immediately after diagnosis in type 2 diabetics. Therefore the role of the Primary Care physician is crucial to enable early diagnosis of this disease.
Abstract Diabetic retinopathy (DR) is considered the most common cause of blindness in the working-age population in industrialised countries, with diabetic macular oedema being the most common reason of decreased visual acuity in diabetics. According to the results of large multicentre studies, blindness prevention for RD involves conducting periodic check-ups, which include examinations of the back of the eye, so they can be treated in time. The use of non-mydriatic cameras and telemedicine have been shown to be useful in this regard (sensitivity > 80% and specificity > 90%). If this procedure is followed, the first retinography should be performed 5 years from diagnosis in type 1 diabetics and immediately after diagnosis in type 2 diabetics. Therefore the role of the Primary Care physician is crucial to enable early diagnosis of this disease.
The use of non-mydriatic cameras and telemedicine have been shown to be useful in this regard (sensitivity > 80% and specificity > 90%). If this procedure is followed, the first retinography should be performed 5 years from diagnosis in type 1 diabetics and immediately after diagnosis in type 2 diabetics. Therefore the role of the Primary Care physician is crucial to enable early diagnosis of this disease.
[]
We present the case of a patient who was admitted to the intensive care unit due to neurological deterioration and respiratory arrest. He was finally diagnosed as having Marchiafava-Bignami disease. We explain the diagnostic difficulties and therapeutic alternatives of this disease.
S0210569105742698
Marchiafava-bignami disease in intensive care
Key words alcoholism Marchiafava-Bignami disease callous body atrophy dementia
Chronic alcoholism causes toxicity in the central and peripheral nervous system, Marchiafava-Bignami disease being one of its less frequent complications. This entity is characterized by demyelinization of the callous body. The clinical picture is varied, the most frequent symptoms being: <dis>dementia</dis>, <dis>attention disorders</dis>, <dis>gait difficulty</dis> and interhemispheric deconnection syndrome. Neuroimaging techniques, basically magnetic resonance imaging, are required for its diagnosis. We present the case of a patient who was admitted to the intensive care unit due to neurological deterioration and respiratory arrest. He was finally diagnosed as having Marchiafava-Bignami disease. We explain the diagnostic difficulties and therapeutic alternatives of this disease.
Chronic alcoholism causes toxicity in the central and peripheral nervous system, Marchiafava-Bignami disease being one of its less frequent complications. This entity is characterized by demyelinization of the callous body. The clinical picture is varied, the most frequent symptoms being: dementia, attention disorders, gait difficulty and interhemispheric deconnection syndrome. Neuroimaging techniques, basically magnetic resonance imaging, are required for its diagnosis. We present the case of a patient who was admitted to the intensive care unit due to neurological deterioration and respiratory arrest. He was finally diagnosed as having Marchiafava-Bignami disease. We explain the diagnostic difficulties and therapeutic alternatives of this disease.
We present the case of a patient who was admitted to the intensive care unit due to neurological deterioration and respiratory arrest. He was finally diagnosed as having Marchiafava-Bignami disease. We explain the diagnostic difficulties and therapeutic alternatives of this disease.
[]
Conclusion In our sample, patients with more severe impairment displayed greater physical and global disability and poorer quality of life without significantly higher levels of social disability and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
S0213485317301615
Correlations between impairment, psychological distress, disability, and quality of life in peripheral facial palsy
Keywords Peripheral facial palsy Impairment Psychological distress Physical disability Social disability Quality of life
Introduction This paper analyses the correlations between scores on scales assessing impairment, psychological distress, disability, and quality of life in patients with <dis>peripheral facial palsy</dis> (<dis>PFP</dis>). Material and methods We conducted a retrospective cross-sectional study including 30 patients in whom <dis>PFP</dis> had not resolved completely. We used tools for assessing impairment (Sunnybrook Facial Grading System [FGS]), psychological distress (Hospital Anxiety and Depression Scale [HADS]), disability (Facial Disability Index [FDI]), and quality of life (Facial Clinimetric Evaluation [FaCE] scale). Results We found no correlations between FGS and HADS scores, or between FGS and FDI social function scores. However, we did find a correlation between FGS and FDI physical function scores (r=0.54; P<.01), FDI total score (r=0.4; P<.05), FaCE total scores (ρ=0.66; P<.01), and FaCE social function scores (ρ=0.5; P<.01). We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05). Significant correlations were also found between HADS Depression scores and FDI physical function (r=–0.61; P<.01), FDI social function (r=–0.53; P<.01), FDI total (r=–0.66; P<.01), FaCE total (ρ=–0.67; P<.01), and FaCE social scores (ρ=–0.68; P<.01), between FDI physical function scores and FaCE total scores (ρ=0.87; P<.01) and FaCE social function (ρ=0.74; P<.01), between FDI social function and FaCE total (ρ=0.66; P<.01) and FaCE social function scores (ρ=0.72; P<.01), and between FDI total scores and FaCE total (ρ = 0,87; P<.01) and FaCE social function scores (ρ=0.84; P<.01). Conclusion In our sample, patients with more severe impairment displayed greater <dis>physical and global disability</dis> and poorer quality of life without significantly higher levels of <dis>social disability</dis> and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
Introduction This paper analyses the correlations between scores on scales assessing impairment, psychological distress, disability, and quality of life in patients with peripheral facial palsy (PFP). Material and methods We conducted a retrospective cross-sectional study including 30 patients in whom PFP had not resolved completely. We used tools for assessing impairment (Sunnybrook Facial Grading System [FGS]), psychological distress (Hospital Anxiety and Depression Scale [HADS]), disability (Facial Disability Index [FDI]), and quality of life (Facial Clinimetric Evaluation [FaCE] scale). Results We found no correlations between FGS and HADS scores, or between FGS and FDI social function scores. However, we did find a correlation between FGS and FDI physical function scores (r=0.54; P<.01), FDI total score (r=0.4; P<.05), FaCE total scores (ρ=0.66; P<.01), and FaCE social function scores (ρ=0.5; P<.01). We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05). Significant correlations were also found between HADS Depression scores and FDI physical function (r=–0.61; P<.01), FDI social function (r=–0.53; P<.01), FDI total (r=–0.66; P<.01), FaCE total (ρ=–0.67; P<.01), and FaCE social scores (ρ=–0.68; P<.01), between FDI physical function scores and FaCE total scores (ρ=0.87; P<.01) and FaCE social function (ρ=0.74; P<.01), between FDI social function and FaCE total (ρ=0.66; P<.01) and FaCE social function scores (ρ=0.72; P<.01), and between FDI total scores and FaCE total (ρ = 0,87; P<.01) and FaCE social function scores (ρ=0.84; P<.01). Conclusion In our sample, patients with more severe impairment displayed greater physical and global disability and poorer quality of life without significantly higher levels of social disability and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
Conclusion In our sample, patients with more severe impairment displayed greater <dis>physical and global disability</dis> and poorer quality of life without significantly higher levels of <dis>social disability</dis> and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
[ { "offsets": [ 81, 111 ], "text": "physical and global disability", "type": "DISABILITY" }, { "offsets": [ 178, 195 ], "text": "social disability", "type": "DISABILITY" } ]
In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
S1695403309006821
Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?
Keywords Gonadal dysgenesis 9p deletion Mental retardation Corpus callosum Sexual differentiation DMRT1 and DMRT2
Abstract Background Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of <dis>psychomotor retardation</dis> and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, <dis>psychomotor retardation</dis> and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing <dis>mental retardation</dis>. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
Abstract Background Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing <dis>mental retardation</dis>. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.
[ { "offsets": [ 156, 174 ], "text": "mental retardation", "type": "DISABILITY" } ]
After the deficiency was confirmed, the patients started treatment with Cr. In addition, patient 2 and 3 received an arginine-restricted diet and ornithine supplements. All them showed a partial improvement. Conclusions Patients with GAMT deficiency have an unspecific but relatively constant clinical presentation. Brain Cr deficiency should be considered in patients with mental retardation of unknown aetiology, specially in those with movement disorders or epilepsy.
S0025775309012913
Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene
Keywords Creatine deficiency Epilepsy Guanidinoacetate methyltransferase Magnetic resonance spectroscopy Mental retardation
Abstract Background and objetive Brain creatine (Cr) deficiencies are a group of inborn errors of metabolism that are characterized by an absence or severe reduction of brain Cr. Clinically, these patients can display <dis>psychomotor/mental retardation</dis> and <dis>language disorders</dis>, commonly associated with epilepsy or <dis>movement disorders</dis>. Three metabolic defects are known: two affect synthesis – guanidinoacetate metiltransferase (GAMT) and glycine amidinotransferase (AGAT) deficiencies– and one affect the Cr transporter (CRTR). We present the first three Spanish patients with GAMT deficiency, and we compare their clinical phenotype and treatment response with other published cases. Patients and method The three patients presented <dis>mental retardation</dis>, epilepsy and <dis>autistic behaviour</dis>. Patient 1 also had severe chorea. Diagnosis was done by biochemical and genetic procedures (guanidinoacetate quantification, determination of GAMT activity and mutation analysis in the GAMT gene). Results An increase of guanidinoacetate was detected in urine and plasma. Brain magnetic resonance spectroscopy revealed low Cr levels. Enzymatic studies revealed a decreased GAMT activity in fibroblasts. Molecular analysis detected pathogenic mutations in the GAMT gene. After the deficiency was confirmed, the patients started treatment with Cr. In addition, patient 2 and 3 received an arginine-restricted diet and ornithine supplements. All them showed a partial improvement. Conclusions Patients with GAMT deficiency have an unspecific but relatively constant clinical presentation. Brain Cr deficiency should be considered in patients with <dis>mental retardation</dis> of unknown aetiology, specially in those with <dis>movement disorders</dis> or epilepsy. Early diagnosis is important in cases with known treatment such as GAMT deficiency.
Abstract Background and objetive Brain creatine (Cr) deficiencies are a group of inborn errors of metabolism that are characterized by an absence or severe reduction of brain Cr. Clinically, these patients can display psychomotor/mental retardation and language disorders, commonly associated with epilepsy or movement disorders. Three metabolic defects are known: two affect synthesis – guanidinoacetate metiltransferase (GAMT) and glycine amidinotransferase (AGAT) deficiencies– and one affect the Cr transporter (CRTR). We present the first three Spanish patients with GAMT deficiency, and we compare their clinical phenotype and treatment response with other published cases. Patients and method The three patients presented mental retardation, epilepsy and autistic behaviour. Patient 1 also had severe chorea. Diagnosis was done by biochemical and genetic procedures (guanidinoacetate quantification, determination of GAMT activity and mutation analysis in the GAMT gene). Results An increase of guanidinoacetate was detected in urine and plasma. Brain magnetic resonance spectroscopy revealed low Cr levels. Enzymatic studies revealed a decreased GAMT activity in fibroblasts. Molecular analysis detected pathogenic mutations in the GAMT gene. After the deficiency was confirmed, the patients started treatment with Cr. In addition, patient 2 and 3 received an arginine-restricted diet and ornithine supplements. All them showed a partial improvement. Conclusions Patients with GAMT deficiency have an unspecific but relatively constant clinical presentation. Brain Cr deficiency should be considered in patients with mental retardation of unknown aetiology, specially in those with movement disorders or epilepsy. Early diagnosis is important in cases with known treatment such as GAMT deficiency.
After the deficiency was confirmed, the patients started treatment with Cr. In addition, patient 2 and 3 received an arginine-restricted diet and ornithine supplements. All them showed a partial improvement. Conclusions Patients with GAMT deficiency have an unspecific but relatively constant clinical presentation. Brain Cr deficiency should be considered in patients with <dis>mental retardation</dis> of unknown aetiology, specially in those with <dis>movement disorders</dis> or epilepsy.
[ { "offsets": [ 374, 392 ], "text": "mental retardation", "type": "DISABILITY" }, { "offsets": [ 439, 457 ], "text": "movement disorders", "type": "DISABILITY" } ]
Abstract Introduction The relationship between mental disorder and burns is complex. Mental disorders may predispose to burns and burns can facilitate the development of mental disorders. Method Case report and literature review. Results We present four cases of women with self-inflicted burns and psychotic symptoms. The average age of these women was 39.2 years.
S0034745014601669
Psychosis and Self-inflicted Burns
Key words Burns mental disorders hallucinations
Abstract Introduction The relationship between <dis>mental disorder</dis> and burns is complex. <dis>Mental disorders</dis> may predispose to burns and burns can facilitate the development of <dis>mental disorders</dis>. Method Case report and literature review. Results We present four cases of women with self-inflicted burns and psychotic symptoms. The average age of these women was 39.2 years. Burns were caused by flames in 100% of the cases and 27.2% of the total body surface was burned. Three of the patients (75%) had a bipolar disorder with mixed symptoms and in 50 of the patients the <dis>mental illness</dis> debuted with the self-inflicted burns. Conclusions Basic psychopathology that may explain the occurrence of the injury and could hamper the process of recovery and rehabilitation should be explored in all burned patients.
Abstract Introduction The relationship between mental disorder and burns is complex. Mental disorders may predispose to burns and burns can facilitate the development of mental disorders. Method Case report and literature review. Results We present four cases of women with self-inflicted burns and psychotic symptoms. The average age of these women was 39.2 years. Burns were caused by flames in 100% of the cases and 27.2% of the total body surface was burned. Three of the patients (75%) had a bipolar disorder with mixed symptoms and in 50 of the patients the mental illness debuted with the self-inflicted burns. Conclusions Basic psychopathology that may explain the occurrence of the injury and could hamper the process of recovery and rehabilitation should be explored in all burned patients.
Abstract Introduction The relationship between <dis>mental disorder</dis> and burns is complex. <dis>Mental disorders</dis> may predispose to burns and burns can facilitate the development of <dis>mental disorders</dis>. Method Case report and literature review. Results We present four cases of women with self-inflicted burns and psychotic symptoms. The average age of these women was 39.2 years.
[ { "offsets": [ 48, 63 ], "text": "mental disorder", "type": "DISABILITY" }, { "offsets": [ 86, 102 ], "text": "Mental disorders", "type": "DISABILITY" }, { "offsets": [ 171, 187 ], "text": "mental disorders", "type": "DISABILITY" } ]
This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation.
S0213485310000022
Neurological signs in the adult with fragile-X premutation
Keywords Fragile X permutation Tremor/ataxia syndrome Parkinsonism Cognitive deficit
Abstract Introduction Fragile X syndrome is an inherited form of <dis>mental retardation</dis>. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation. Conclusions Fragile X premutation is a risk for <dis>movement disorders</dis> and <dis>cognitive dysfunction</dis> and it should be considered in patients with a family history of <dis>mental retardation</dis> or <dis>autism</dis>, and particularly in those females with premature ovarian failure.
Abstract Introduction Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation. Conclusions Fragile X premutation is a risk for movement disorders and cognitive dysfunction and it should be considered in patients with a family history of mental retardation or autism, and particularly in those females with premature ovarian failure.
This resulted in the recognition of a syndrome originally referred to as “intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation”. This premutation is also associated with premature ovarian failure. Methodology This paper reviews the literature on the neurological signs of fragile X premutation.
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Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods.
S1888989116300015
Suicidal behaviour characteristics and factors associated with mortality in the hospital setting
Keywords Attempted suicide Hospital mortality Data base Comorbidity Abbreviated Injury Scale
Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods. A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results. Hospital suicidal behaviour predominates in women (58.7%) and in middle-age. Hospital mortality is 2.2% (1.6% in women and 3.2% in men), increasing with age. <dis>Mental disorders</dis> are detected 3-4 times more in secondary diagnoses. The main primary diagnosis (>74%) is poisoning with substances, with lower mortality (∼1%) than injury by hanging and jumping from high places (≥12%), which have the highest numbers. Other factors associated with increased mortality include different medical comorbidities and severity of the injury, while length of stay and <dis>mental disorders</dis> are protective factors. Type of hospital, poisoning, and Charlson index are associated differently with mortality in men and women. Conclusions. Hospitalised suicidal acts show a low mortality, mainly related to comorbidities and the severity of injuries.
Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods. A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results. Hospital suicidal behaviour predominates in women (58.7%) and in middle-age. Hospital mortality is 2.2% (1.6% in women and 3.2% in men), increasing with age. Mental disorders are detected 3-4 times more in secondary diagnoses. The main primary diagnosis (>74%) is poisoning with substances, with lower mortality (∼1%) than injury by hanging and jumping from high places (≥12%), which have the highest numbers. Other factors associated with increased mortality include different medical comorbidities and severity of the injury, while length of stay and mental disorders are protective factors. Type of hospital, poisoning, and Charlson index are associated differently with mortality in men and women. Conclusions. Hospitalised suicidal acts show a low mortality, mainly related to comorbidities and the severity of injuries.
Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods.
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Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with dementia and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation.
S1134248X17300484
Specialized home care for patients with dementia
Keywords Dementia Palliative care Home care
Objective to Analyze the characteristics of patients with <dis>dementia</dis> attended by a home care support team and to establish whether there are differences from patients with other diseases. Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with <dis>dementia</dis> and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation. Data analysis with SPSS 15.0 software. Results Of all patients attended (N=638), 195 comprised the cohort of patients with <dis>dementia</dis> (30.7%). The most common cause was <dis>vascular dementia</dis> 40.4% (N=74). The average Global Deterioration Scale was 6±1.05, with an average score of 8.87 errors in the Pfeiffer test and average Barthel index of 11.9± 23. In the patients <scp><neg>without</neg> <dis>dementia</dis></scp>, significant differences were obtained in terms of functional and cognitive status (Barthel index of 52.34±38 and Pfeiffer test with an average score of 1.48 ±3.2 (P<.001)). The patients with <dis>dementia</dis>, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%). These are patients with lower mortality 31.8% versus 53.1%) and a reduced need for hospitalisation (6.7% versus 17.5%), with no differences in clinical activity. Conclusions Our results suggest that these patients have a slowly progressive symptomatic and functional profile that will require attention at times of crisis, hospital admissions could be reduced by adequate control of symptoms.
Objective to Analyze the characteristics of patients with dementia attended by a home care support team and to establish whether there are differences from patients with other diseases. Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with dementia and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation. Data analysis with SPSS 15.0 software. Results Of all patients attended (N=638), 195 comprised the cohort of patients with dementia (30.7%). The most common cause was vascular dementia 40.4% (N=74). The average Global Deterioration Scale was 6±1.05, with an average score of 8.87 errors in the Pfeiffer test and average Barthel index of 11.9± 23. In the patients without dementia, significant differences were obtained in terms of functional and cognitive status (Barthel index of 52.34±38 and Pfeiffer test with an average score of 1.48 ±3.2 (P<.001)). The patients with dementia, most commonly institutionalised (37.9% versus 11.8% in non-demented), presented a greater amount of immobility syndrome (70.3% versus 24%) and pressure ulcers (19.6% compared to 3.9%), fewer symptoms other than agitation and less need for palliative sedation (8.2% versus 20.4%). These are patients with lower mortality 31.8% versus 53.1%) and a reduced need for hospitalisation (6.7% versus 17.5%), with no differences in clinical activity. Conclusions Our results suggest that these patients have a slowly progressive symptomatic and functional profile that will require attention at times of crisis, hospital admissions could be reduced by adequate control of symptoms.
Material and methods A prospective, comparative analytical study of 2 cohorts of patients attended at home, one with <dis>dementia</dis> and one without, comparing age, sex, principal caregiver, number of visits and time of follow-up, reason for discharge, medical comorbidity, Barthel index prior to intervention and on the first home care support team visit, Pfeiffer questionnaire, type of dementia and Global Deterioration Scale of Reisberg, amount of previous medication, presence of symptoms (pain, dyspnoea, nausea, anxiety, depression, insomnia, agitation) treatment of symptoms or modification of previous treatment, need for sedation.
[ { "offsets": [ 117, 125 ], "text": "dementia", "type": "DISABILITY" } ]
Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), mental disorders (15%) endocrine-immunological diseases (27%) and infectious diseases (60%).
S1138359303742518
Estudio de la mortalidad de una zona de salud. ¿Tiene utilidad en Atención Primaria?
Key words mortality causes prevention standardization Primary Health Care
Objective . Analyze the mortality of the Gandhi functional zone (GFZ) to identify Public Health problems that can be improved from Primary Health Care. Methods . Descriptive study of mortality during the year 1998 in a functional zone of the Health Care Area 4 in the Madrid Community (MC) with a total population of 35,636 persons. The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results . Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), <dis>mental disorders</dis> (15%) endocrine-immunological diseases (27%) and infectious diseases (60%). In men, mortality due to COLD and lung cancer is 53% and 36% greater in the GFZ than in the MC, respectively. In women, mortality due to diabetes is 62% greater than in the MC and due to <dis>dementia</dis> 30% greater. Conclusions . The analysis of mortality in small population nuclei may contribute to detecting health problems that require the action of the Primary Health Care professionals. For the GFZ, control of smoking in males may be the main factor to keep in mind to decrease mortality.
Objective . Analyze the mortality of the Gandhi functional zone (GFZ) to identify Public Health problems that can be improved from Primary Health Care. Methods . Descriptive study of mortality during the year 1998 in a functional zone of the Health Care Area 4 in the Madrid Community (MC) with a total population of 35,636 persons. The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results . Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), mental disorders (15%) endocrine-immunological diseases (27%) and infectious diseases (60%). In men, mortality due to COLD and lung cancer is 53% and 36% greater in the GFZ than in the MC, respectively. In women, mortality due to diabetes is 62% greater than in the MC and due to dementia 30% greater. Conclusions . The analysis of mortality in small population nuclei may contribute to detecting health problems that require the action of the Primary Health Care professionals. For the GFZ, control of smoking in males may be the main factor to keep in mind to decrease mortality.
Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), <dis>mental disorders</dis> (15%) endocrine-immunological diseases (27%) and infectious diseases (60%).
[ { "offsets": [ 201, 217 ], "text": "mental disorders", "type": "DISABILITY" } ]
Results The establishment of a high risk screening program was followed by a drastic reduction of the severe deafness diagnosis (29’5% to 8%), and also of the mean age of diagnosis (24 to 14 months), which were found statistically significant. The mean age with universal screening is 3 months.
S000165190378457X
Early deafness diagnosis. an example of early intervention in public health
Key words Congenital deafness Early stimulation Auditory screening High risk Evoked potentials Universal screening
Abstract Introduction We present a statistic study comparing all the options we can take to face <dis>congenital deafness</dis> as a problem of public health. Patients and Methods We collected and analyzed data obtained between 1991 and 1995, just before our universal screening program started. They were separated into two groups with the 144 children explored using ABR, and the results were compared depending on the option taken in each group (no screening or high risk screening) and finally with those obtained in a universal program. Results The establishment of a high risk screening program was followed by a drastic reduction of the <dis>severe deafness</dis> diagnosis (29’5% to 8%), and also of the mean age of diagnosis (24 to 14 months), which were found statistically significant. The mean age with universal screening is 3 months. Discussion and conclusions Early detection of <dis>congenital hearing impairment</dis> has brought an important advance in the management of this problem of public health minimizing its sequels as the diagnosis is reached earlier. The universal screening of <dis>deafness</dis> is feasible as based on cheap and easy diagnostic techniques available in any centre, and it must be performed with the rest of Health Children Programs.
Abstract Introduction We present a statistic study comparing all the options we can take to face congenital deafness as a problem of public health. Patients and Methods We collected and analyzed data obtained between 1991 and 1995, just before our universal screening program started. They were separated into two groups with the 144 children explored using ABR, and the results were compared depending on the option taken in each group (no screening or high risk screening) and finally with those obtained in a universal program. Results The establishment of a high risk screening program was followed by a drastic reduction of the severe deafness diagnosis (29’5% to 8%), and also of the mean age of diagnosis (24 to 14 months), which were found statistically significant. The mean age with universal screening is 3 months. Discussion and conclusions Early detection of congenital hearing impairment has brought an important advance in the management of this problem of public health minimizing its sequels as the diagnosis is reached earlier. The universal screening of deafness is feasible as based on cheap and easy diagnostic techniques available in any centre, and it must be performed with the rest of Health Children Programs.
Results The establishment of a high risk screening program was followed by a drastic reduction of the <dis>severe deafness</dis> diagnosis (29’5% to 8%), and also of the mean age of diagnosis (24 to 14 months), which were found statistically significant. The mean age with universal screening is 3 months.
[ { "offsets": [ 102, 117 ], "text": "severe deafness", "type": "DISABILITY" } ]
The tripeptidyl peptidase activity was also determined in 9 patients with a clinical diagnosis of late infantile neuronal ceroid lipofuscinoses. Results Six of the samples showed activity lower than the lowest control value (0.11 to 0.45 nmol/spot) from healthy controls of infantile age, confirming the enzymatic diagnosis. Three of the 14 parent samples analysed showed values in the heterozygote ranges.
S1695403311004966
Tripeptidyl peptidase 1 in patients with late infantile neuronal ceroid lipofuscinosis
Keywords Neurodegenerative disease Neuronal ceroid lipofuscinosis Tripeptidyl peptidase I
Abstract Introduction Neuronal ceroid lipofuscinoses are a group of inherited autosomal recessive lysosomal diseases, most commonly found in infancy. These are neuropathologically characterised by accumulation of an autofluorescent lipopigment in neurons and other cells. This condition is clinically characterised by <dis>loss of motor and cognitive skills</dis>, lack of motor coordination, <dis>ataxia</dis>, <dis>progressive visual impairment</dis>, behavioural changes; seizures of difficult to manage seizures, particularly myoclonic, and premature death. Ten clinical forms have been described, one of which is late infantile where clinical signs begin between two and four years. The gene responsible for this disease is located at 11p15 locus, and the enzyme encoded by this gene is the tripeptidyl peptidase 1. Patients and methods We standardised the technique for the enzymatic diagnosis of late infantile neuronal ceroid lipofuscinoses from dried blood on filter paper card in 76 healthy individuals adults and children in order to establish a normal range in the Venezuelan population. The tripeptidyl peptidase activity was also determined in 9 patients with a clinical diagnosis of late infantile neuronal ceroid lipofuscinoses. Results Six of the samples showed activity lower than the lowest control value (0.11 to 0.45 nmol/spot) from healthy controls of infantile age, confirming the enzymatic diagnosis. Three of the 14 parent samples analysed showed values in the heterozygote ranges. Conclusions The enzymatic diagnosis of late infantile neuronal ceroid lipofuscinoses from dried blood on filter paper card is a rapid, easier, less expensive and accurate molecular diagnosis tool.
Abstract Introduction Neuronal ceroid lipofuscinoses are a group of inherited autosomal recessive lysosomal diseases, most commonly found in infancy. These are neuropathologically characterised by accumulation of an autofluorescent lipopigment in neurons and other cells. This condition is clinically characterised by loss of motor and cognitive skills, lack of motor coordination, ataxia, progressive visual impairment, behavioural changes; seizures of difficult to manage seizures, particularly myoclonic, and premature death. Ten clinical forms have been described, one of which is late infantile where clinical signs begin between two and four years. The gene responsible for this disease is located at 11p15 locus, and the enzyme encoded by this gene is the tripeptidyl peptidase 1. Patients and methods We standardised the technique for the enzymatic diagnosis of late infantile neuronal ceroid lipofuscinoses from dried blood on filter paper card in 76 healthy individuals adults and children in order to establish a normal range in the Venezuelan population. The tripeptidyl peptidase activity was also determined in 9 patients with a clinical diagnosis of late infantile neuronal ceroid lipofuscinoses. Results Six of the samples showed activity lower than the lowest control value (0.11 to 0.45 nmol/spot) from healthy controls of infantile age, confirming the enzymatic diagnosis. Three of the 14 parent samples analysed showed values in the heterozygote ranges. Conclusions The enzymatic diagnosis of late infantile neuronal ceroid lipofuscinoses from dried blood on filter paper card is a rapid, easier, less expensive and accurate molecular diagnosis tool.
The tripeptidyl peptidase activity was also determined in 9 patients with a clinical diagnosis of late infantile neuronal ceroid lipofuscinoses. Results Six of the samples showed activity lower than the lowest control value (0.11 to 0.45 nmol/spot) from healthy controls of infantile age, confirming the enzymatic diagnosis. Three of the 14 parent samples analysed showed values in the heterozygote ranges.
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In 3 other cases, NCSE was the diagnosis on discharge as confirmed by rEEG although the EmEEG missed this condition at first. EmEEG performed to rule out NCSE showed 92.1% sensitivity, 97.2% specificity, a positive predictive value of 94.6%, and a negative predictive value of 96%. Conclusions. Our experience finds that, in an appropriate clinical context, EmEEG performed by the on-call neurologist is a sensitive and specific tool for diagnosing NCSE.
S0213485316300834
Emergency electroencephalogram: Usefulness in the diagnosis of nonconvulsive status epilepticus by the on-call neurologist
Keywords Status epilepticus Non-convulsive status epilepticus Electroencephalogram Neurological emergencies Epilepsy Acute confusional state
Introduction. We aim to describe the use of emergency electroencephalogram (EmEEG) by the on-call neurologist when nonconvulsive status epilepticus (NCSE) is suspected, and in other indications, in a tertiary hospital. Subjects and methods. Observational retrospective cohort study of emergency EEG (EmEEG) recordings with 8-channel systems performed and analysed by the on-call neurologist in the emergency department and in-hospital wards between July 2013 and May 2015. Variables recorded were sex, age, symptoms, first diagnosis, previous seizure and cause, previous stroke, cancer, brain computed tomography, diagnosis after EEG, treatment, patient progress, routine control EEG (rEEG), and final diagnosis. We analysed frequency data, sensitivity, and specificity in the diagnosis of NCSE. Results. The study included 135 EEG recordings performed in 129 patients; 51.4% were men and their median age was 69 years. In 112 cases (83%), doctors ruled out suspected NCSE because of altered level of consciousness in 42 (37.5%), <dis>behavioural abnormalities</dis> in 38 (33.9%), and <dis>aphasia</dis> in 32 (28.5%). The EmEEG diagnosis was NCSE in 37 patients (33%), and this was confirmed in 35 (94.6%) as the final diagnosis. In 3 other cases, NCSE was the diagnosis on discharge as confirmed by rEEG although the EmEEG missed this condition at first. EmEEG performed to rule out NCSE showed 92.1% sensitivity, 97.2% specificity, a positive predictive value of 94.6%, and a negative predictive value of 96%. Conclusions. Our experience finds that, in an appropriate clinical context, EmEEG performed by the on-call neurologist is a sensitive and specific tool for diagnosing NCSE.
Introduction. We aim to describe the use of emergency electroencephalogram (EmEEG) by the on-call neurologist when nonconvulsive status epilepticus (NCSE) is suspected, and in other indications, in a tertiary hospital. Subjects and methods. Observational retrospective cohort study of emergency EEG (EmEEG) recordings with 8-channel systems performed and analysed by the on-call neurologist in the emergency department and in-hospital wards between July 2013 and May 2015. Variables recorded were sex, age, symptoms, first diagnosis, previous seizure and cause, previous stroke, cancer, brain computed tomography, diagnosis after EEG, treatment, patient progress, routine control EEG (rEEG), and final diagnosis. We analysed frequency data, sensitivity, and specificity in the diagnosis of NCSE. Results. The study included 135 EEG recordings performed in 129 patients; 51.4% were men and their median age was 69 years. In 112 cases (83%), doctors ruled out suspected NCSE because of altered level of consciousness in 42 (37.5%), behavioural abnormalities in 38 (33.9%), and aphasia in 32 (28.5%). The EmEEG diagnosis was NCSE in 37 patients (33%), and this was confirmed in 35 (94.6%) as the final diagnosis. In 3 other cases, NCSE was the diagnosis on discharge as confirmed by rEEG although the EmEEG missed this condition at first. EmEEG performed to rule out NCSE showed 92.1% sensitivity, 97.2% specificity, a positive predictive value of 94.6%, and a negative predictive value of 96%. Conclusions. Our experience finds that, in an appropriate clinical context, EmEEG performed by the on-call neurologist is a sensitive and specific tool for diagnosing NCSE.
In 3 other cases, NCSE was the diagnosis on discharge as confirmed by rEEG although the EmEEG missed this condition at first. EmEEG performed to rule out NCSE showed 92.1% sensitivity, 97.2% specificity, a positive predictive value of 94.6%, and a negative predictive value of 96%. Conclusions. Our experience finds that, in an appropriate clinical context, EmEEG performed by the on-call neurologist is a sensitive and specific tool for diagnosing NCSE.
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Results The patients identified as having severe hyperbilirubinaemia in the neonatal period numbered 109 (0.5%) and 96 of these (88.07 %) passed the otoacoustic emissions test at the first attempt and 13 (11.93 %) did not; 11 of the 13 children in whom the otoacoustic emissions test was repeated passed it successfully.
S000165190873276X
Incidence of Hypoacusia Secondary to Hyperbilirubinaemia in a Universal Neonatal Auditory Screening Programme Based on Otoacoustic Emissions and Evoked Auditory Potentials
Key words Hypoacusia secondary to hyperbilirubinaemia Neonatal screening programme Otoacoustic emissions Evoked auditory potentials
Introduction Hyperbilirubinaemia is a neonatal risk factor that has been proved to be associated with <dis>sensorineural hearing loss</dis>. A high concentration of unconjugated bilirubin place newborn children at risk of suffering toxic effects, including <dis>hypoacusia</dis>. Objectives Review of the newborn screening results with a diagnosis of pathological hyperbilirubinaemia as part of a <dis>hearing-loss</dis> early detection protocol in the general population based on otoemissions and evoked potentials. Material and method Retrospective study of 21 590 newborn children screened between 2002 and 2006. The selection criteria for defining pathological hyperbilirubinaemia were bilirubin concentrations in excess of 14 mg/dL in pre-term infants and 20 mg/dL in full-term babies. The Universal Neonatal Hearing Screening Programme is a two-phase protocol in which all children are initially subjected to a transient otoacoustic emissions test (TOAE). Children presenting risk factors associated with auditory neuropathy were always given brainstem auditory evoked potentials (BAEP). Results The patients identified as having severe hyperbilirubinaemia in the neonatal period numbered 109 (0.5%) and 96 of these (88.07 %) passed the otoacoustic emissions test at the first attempt and 13 (11.93 %) did not; 11 of the 13 children in whom the otoacoustic emissions test was repeated passed it successfully. The 2 children who failed to pass the otoacoustic emissions test has normal BAEP results; 3 (2.75 %) of the newborn infants who passed the TOAE test did not pass the BAEP. Discussion Hyperbilirubinaemia values previously considered safe may harm the hearing system and give rise to isolated problems in auditory processing without being associated with other signs of classical kernicterus. Our results show that hyperbilirubinaemia-related auditory neuropathy reveals changes over time in the audiometric outcomes.
Introduction Hyperbilirubinaemia is a neonatal risk factor that has been proved to be associated with sensorineural hearing loss. A high concentration of unconjugated bilirubin place newborn children at risk of suffering toxic effects, including hypoacusia. Objectives Review of the newborn screening results with a diagnosis of pathological hyperbilirubinaemia as part of a hearing-loss early detection protocol in the general population based on otoemissions and evoked potentials. Material and method Retrospective study of 21 590 newborn children screened between 2002 and 2006. The selection criteria for defining pathological hyperbilirubinaemia were bilirubin concentrations in excess of 14 mg/dL in pre-term infants and 20 mg/dL in full-term babies. The Universal Neonatal Hearing Screening Programme is a two-phase protocol in which all children are initially subjected to a transient otoacoustic emissions test (TOAE). Children presenting risk factors associated with auditory neuropathy were always given brainstem auditory evoked potentials (BAEP). Results The patients identified as having severe hyperbilirubinaemia in the neonatal period numbered 109 (0.5%) and 96 of these (88.07 %) passed the otoacoustic emissions test at the first attempt and 13 (11.93 %) did not; 11 of the 13 children in whom the otoacoustic emissions test was repeated passed it successfully. The 2 children who failed to pass the otoacoustic emissions test has normal BAEP results; 3 (2.75 %) of the newborn infants who passed the TOAE test did not pass the BAEP. Discussion Hyperbilirubinaemia values previously considered safe may harm the hearing system and give rise to isolated problems in auditory processing without being associated with other signs of classical kernicterus. Our results show that hyperbilirubinaemia-related auditory neuropathy reveals changes over time in the audiometric outcomes.
Results The patients identified as having severe hyperbilirubinaemia in the neonatal period numbered 109 (0.5%) and 96 of these (88.07 %) passed the otoacoustic emissions test at the first attempt and 13 (11.93 %) did not; 11 of the 13 children in whom the otoacoustic emissions test was repeated passed it successfully.
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Objectives. The present research aims to describe the knowledge of elementary school teachers about attention deficit hyperactivity disorder (ADHD) through interviews about general information, symptoms/diagnosis and treatment, in addition to perceived self-efficacy. Methods. A descriptive cross-sectional population study was carried out, involving 62 teachers from public schools in the municipality of Sabaneta.
S0034745017300550
Knowledge About ADHD in Primary Teachers of Public Schools of Sabaneta, Antioquia
Keywords ADHD Faculty Knowledge
Objectives. The present research aims to describe the knowledge of elementary school teachers about <dis>attention deficit hyperactivity disorder</dis> (<dis>ADHD</dis>) through interviews about general information, symptoms/diagnosis and treatment, in addition to perceived self-efficacy. Methods. A descriptive cross-sectional population study was carried out, involving 62 teachers from public schools in the municipality of Sabaneta. The teachers were evaluated by the Spanish adaptation of the Knowledge of Attention Deficit Hyperactivity Disorder (KADDS), an estimation scale composed of 36 items of three alternative answers (true, false and I do not know). Results. Teachers correctly answered a little less than half of the items in the total questionnaire (48.52%). Specifically, it was in the subscale of dymptoms/diagnosis in which they presented more hits with 69.35%, followed by the treatment subscale (45.30%), and finally the general information (38.60%). Conclusions. According to the data obtained, the need for interventions on the subject is confirmed, so that this is reflected in new teaching techniques that facilitate the learning and development of children with the disorder.
Objectives. The present research aims to describe the knowledge of elementary school teachers about attention deficit hyperactivity disorder (ADHD) through interviews about general information, symptoms/diagnosis and treatment, in addition to perceived self-efficacy. Methods. A descriptive cross-sectional population study was carried out, involving 62 teachers from public schools in the municipality of Sabaneta. The teachers were evaluated by the Spanish adaptation of the Knowledge of Attention Deficit Hyperactivity Disorder (KADDS), an estimation scale composed of 36 items of three alternative answers (true, false and I do not know). Results. Teachers correctly answered a little less than half of the items in the total questionnaire (48.52%). Specifically, it was in the subscale of dymptoms/diagnosis in which they presented more hits with 69.35%, followed by the treatment subscale (45.30%), and finally the general information (38.60%). Conclusions. According to the data obtained, the need for interventions on the subject is confirmed, so that this is reflected in new teaching techniques that facilitate the learning and development of children with the disorder.
Objectives. The present research aims to describe the knowledge of elementary school teachers about <dis>attention deficit hyperactivity disorder</dis> (<dis>ADHD</dis>) through interviews about general information, symptoms/diagnosis and treatment, in addition to perceived self-efficacy. Methods. A descriptive cross-sectional population study was carried out, involving 62 teachers from public schools in the municipality of Sabaneta.
[ { "offsets": [ 100, 140 ], "text": "attention deficit hyperactivity disorder", "type": "DISABILITY" }, { "offsets": [ 142, 146 ], "text": "ADHD", "type": "DISABILITY" } ]
The predictive validity, acceptability, scale assumptions, internal consistency, and precision were analysed. Results The internal consistency was high (α = 0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with ASD and mental disability compared to the rest of the patients ( _P_ < .001).
S1695403311000385
Psychometric attributes of the spanish version of A-TAC screening scale for autism spectrum disorders
Keywords Autism Psychometrics attributes Developmental disorders A-TAC
Abstract Background As there are no biological markers for <dis>Autism Spectrum Disorders</dis> (<dis>ASD</dis>), screening must focus on behaviour and the presence of a markedly <dis>abnormal development</dis> or a <dis>deficiency in verbal and non-verbal social interaction and communication</dis>. Objective To evaluate the psychometric attributes of a Spanish version of the autism domain of the Autism-Tics, AD/HD and other Comorbidities Inventory (A-TAC) scale for <dis>ASD</dis> screening. Material and methods A total of 140 subjects (43% male, 57% female) aged 6-16, with <dis>ASD</dis> (n = 15), <dis>Mental Retardation</dis> (n = 40), <dis>Psychiatric Illness</dis> (n = 22), Tics (n = 12) and controls (n = 51), were included for <dis>ASD</dis> screening. The predictive validity, acceptability, scale assumptions, internal consistency, and precision were analysed. Results The internal consistency was high (α = 0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with <dis>ASD</dis> and <dis>mental disability</dis> compared to the rest of the patients ( _P_ < .001). The area under the curve was 0.96 for the <dis>ASD</dis> group. Conclusion The autism domain of the A-TAC scale seems to be a reliable, valid and precise tool for <dis>ASD</dis> screening in the Spanish school population.
Abstract Background As there are no biological markers for Autism Spectrum Disorders (ASD), screening must focus on behaviour and the presence of a markedly abnormal development or a deficiency in verbal and non-verbal social interaction and communication. Objective To evaluate the psychometric attributes of a Spanish version of the autism domain of the Autism-Tics, AD/HD and other Comorbidities Inventory (A-TAC) scale for ASD screening. Material and methods A total of 140 subjects (43% male, 57% female) aged 6-16, with ASD (n = 15), Mental Retardation (n = 40), Psychiatric Illness (n = 22), Tics (n = 12) and controls (n = 51), were included for ASD screening. The predictive validity, acceptability, scale assumptions, internal consistency, and precision were analysed. Results The internal consistency was high (α = 0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with ASD and mental disability compared to the rest of the patients ( _P_ < .001). The area under the curve was 0.96 for the ASD group. Conclusion The autism domain of the A-TAC scale seems to be a reliable, valid and precise tool for ASD screening in the Spanish school population.
The predictive validity, acceptability, scale assumptions, internal consistency, and precision were analysed. Results The internal consistency was high (α = 0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with <dis>ASD</dis> and <dis>mental disability</dis> compared to the rest of the patients ( _P_ < .001).
[ { "offsets": [ 307, 310 ], "text": "ASD", "type": "DISABILITY" }, { "offsets": [ 315, 332 ], "text": "mental disability", "type": "DISABILITY" } ]
Introduction Repetitive transcranial magnetic stimulation (rTMS) is a therapeutic reality in post-stroke rehabilitation. It has a neuroprotective effect on the modulation of neuroplasticity, improving the brain's capacity to retrain neural circuits and promoting restoration and acquisition of new compensatory skills.
S0213485316300305
Current evidence on transcranial magnetic stimulation and its potential usefulness in post-stroke neurorehabilitation: Opening new doors to the treatment of cerebrovascular disease
Keywords Aphasia Dysphagia Transcranial magnetic stimulation Stroke Neuroplasticity Neurorehabilitation
Introduction Repetitive transcranial magnetic stimulation (rTMS) is a therapeutic reality in post-stroke rehabilitation. It has a neuroprotective effect on the modulation of neuroplasticity, improving the brain's capacity to retrain neural circuits and promoting restoration and acquisition of new compensatory skills. Development We conducted a literature search on PubMed and also gathered the latest books, clinical practice guidelines, and recommendations published by the most prominent scientific societies concerning the therapeutic use of rTMS in the rehabilitation of stroke patients. The criteria of the International Federation of Clinical Neurophysiology (2014) were followed regarding the inclusion of all evidence and recommendations. Conclusions Identifying stroke patients who are eligible for rTMS is essential to accelerate their recovery. rTMS has proven to be safe and effective for treating stroke complications. Functional brain activity can be optimised by applying excitatory or inhibitory electromagnetic pulses to the hemisphere ipsilateral or contralateral to the lesion, respectively, as well as at the level of the transcallosal pathway to regulate interhemispheric communication. Different studies of rTMS in these patients have resulted in improvements in <dis>motor disorders</dis>, <dis>aphasia</dis>, <dis>dysarthria</dis>, <dis>oropharyngeal dysphagia</dis>, depression, and <dis>perceptual-cognitive deficits</dis>. However, further well-designed randomized controlled clinical trials with larger sample size are needed to recommend with a higher level of evidence, proper implementation of rTMS use in stroke subjects on a widespread basis.
Introduction Repetitive transcranial magnetic stimulation (rTMS) is a therapeutic reality in post-stroke rehabilitation. It has a neuroprotective effect on the modulation of neuroplasticity, improving the brain's capacity to retrain neural circuits and promoting restoration and acquisition of new compensatory skills. Development We conducted a literature search on PubMed and also gathered the latest books, clinical practice guidelines, and recommendations published by the most prominent scientific societies concerning the therapeutic use of rTMS in the rehabilitation of stroke patients. The criteria of the International Federation of Clinical Neurophysiology (2014) were followed regarding the inclusion of all evidence and recommendations. Conclusions Identifying stroke patients who are eligible for rTMS is essential to accelerate their recovery. rTMS has proven to be safe and effective for treating stroke complications. Functional brain activity can be optimised by applying excitatory or inhibitory electromagnetic pulses to the hemisphere ipsilateral or contralateral to the lesion, respectively, as well as at the level of the transcallosal pathway to regulate interhemispheric communication. Different studies of rTMS in these patients have resulted in improvements in motor disorders, aphasia, dysarthria, oropharyngeal dysphagia, depression, and perceptual-cognitive deficits. However, further well-designed randomized controlled clinical trials with larger sample size are needed to recommend with a higher level of evidence, proper implementation of rTMS use in stroke subjects on a widespread basis.
Introduction Repetitive transcranial magnetic stimulation (rTMS) is a therapeutic reality in post-stroke rehabilitation. It has a neuroprotective effect on the modulation of neuroplasticity, improving the brain's capacity to retrain neural circuits and promoting restoration and acquisition of new compensatory skills.
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Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease.
S2254887414000861
From genotype to phenotype: Clinical variability in Lesch-Nyhan disease. The role of epigenetics
Keywords Epigenetics Methyl phenotype Genotype Lesch-Nyhan disease Hyperuricemia
Abstract Lesch-Nyhan disease is a rare genetic disease characterized by a deficiency in the function of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Patients affected by this disease experience hyperuricemia, <dis>motor disorders</dis>, <dis>mental retardation</dis> and, in the most severe cases, self-mutilation. Its clinical manifestations depend on the enzymatic activity of HGPRT, which is classically linked to the type of alteration in the HGPRT gene. More than 400 mutations of this gene have been found. At present, one of the controversial aspects of the disease is the relationship between the genotype and phenotype; cases have been described lacking a mutation, such as the patient presented in this article, as well as families who despite sharing the same genetic defect show disorders with differing severity. Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease.
Abstract Lesch-Nyhan disease is a rare genetic disease characterized by a deficiency in the function of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Patients affected by this disease experience hyperuricemia, motor disorders, mental retardation and, in the most severe cases, self-mutilation. Its clinical manifestations depend on the enzymatic activity of HGPRT, which is classically linked to the type of alteration in the HGPRT gene. More than 400 mutations of this gene have been found. At present, one of the controversial aspects of the disease is the relationship between the genotype and phenotype; cases have been described lacking a mutation, such as the patient presented in this article, as well as families who despite sharing the same genetic defect show disorders with differing severity. Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease.
Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease.
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Significant differences do not observe in the correlation phenotype - genotype. Conclusions The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.
S0025775309010537
Prader Willi syndrome patients: Study of 77 patients
Keywords Prader-Willi syndrome Genetic disease Uniparental disomy
Abstract Background The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, <dis>developmental delay</dis>, <dis>moderate mental retardation</dis>, <dis>abnormal behavior</dis> and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients. Patients and methods There has been realized the study of 374 suspected PWS patients. Cytogenetics studies of bands G and hybridization in situ fluorescent (FISH) and molecular genetics analysis of microsatellites, Southern blot, MS-PCR and sequenciation were carried out. Holm's criteria use for the correlation phenotype - genotype in 48 patients. Results PWS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype. Conclusions The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.
Abstract Background The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, developmental delay, moderate mental retardation, abnormal behavior and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients. Patients and methods There has been realized the study of 374 suspected PWS patients. Cytogenetics studies of bands G and hybridization in situ fluorescent (FISH) and molecular genetics analysis of microsatellites, Southern blot, MS-PCR and sequenciation were carried out. Holm's criteria use for the correlation phenotype - genotype in 48 patients. Results PWS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype. Conclusions The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.
Significant differences do not observe in the correlation phenotype - genotype. Conclusions The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.
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Methods A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by late- onset bilateral non-syndromic sensorineural hearing loss from Cantabria. Results The A1555G mutation was found in 6 patients.
S0001651902783490
Incidence of the mutations a1555g in the mitochondrial dna and 35delg in the gjb2 gene (connexin-26) in families with late-onset non-syndromic sensorineural hearing loss from cantabria
Key words Sensorineural hearing loss Hereditary Non-syndromic hearing loss
Abstract Introduction <dis>Sensorineural deafness</dis> is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for <dis>sensorineural deafness</dis> in the Spanish population. Methods A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by <dis>late- onset bilateral non-syndromic sensorineural hearing loss</dis> from Cantabria. Results The A1555G mutation was found in 6 patients. Five of these 6 patients had been treated with aminoglycosides. In all of them the <dis>auditory impairment</dis> affected mainly the high frequencies. The 35delG mutation was not found in any of the patients. Conclusions The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by <dis>sensorineural hearing impairment</dis> with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of <dis>deafness</dis> in families with <dis>late-onset non-syndromic sensorineural hearing loss</dis> in our area.
Abstract Introduction Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for sensorineural deafness in the Spanish population. Methods A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by late- onset bilateral non-syndromic sensorineural hearing loss from Cantabria. Results The A1555G mutation was found in 6 patients. Five of these 6 patients had been treated with aminoglycosides. In all of them the auditory impairment affected mainly the high frequencies. The 35delG mutation was not found in any of the patients. Conclusions The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.
Methods A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by <dis>late- onset bilateral non-syndromic sensorineural hearing loss</dis> from Cantabria. Results The A1555G mutation was found in 6 patients.
[ { "offsets": [ 233, 295 ], "text": "late- onset bilateral non-syndromic sensorineural hearing loss", "type": "DISABILITY" } ]
_Method:_ We searched the biomedical literature on Medline, OVID, Proquest, and EMBASE for articles matching the MeSH terms “social cognition”, “theory of mind”, “emotion recognition”, “empathy”, and “emotional processing” to “bipolar disorder”, limiting the results to clinical studies with medium/high methodological quality, in Spanish or English and published in the last 20 years, in children and adults.
S0034745014601074
Social Cognition Deficit in Bipolar Disorder: Relevance and Rehabilitation Strategies
Key words Bipolar disorder psychosocial adjustment theory of mind rehabilitation
Abstract Introduction Bipolar disorder (BD) is associated with <dis>significant impairment in social, work, and family functioning</dis>, even in euthymic state. This could be explained by a <dis>social cognition deficit</dis>. Objective To review the findings on social cognition in bipolar patients through its main dimensions, and through the various stages of the illness. _Method:_ We searched the biomedical literature on Medline, OVID, Proquest, and EMBASE for articles matching the MeSH terms “social cognition”, “theory of mind”, “emotion recognition”, “empathy”, and “emotional processing” to “bipolar disorder”, limiting the results to clinical studies with medium/high methodological quality, in Spanish or English and published in the last 20 years, in children and adults. Results We selected 83 items referring to this topic but only 24 specifically assessed social cognition in bipolar population. Most studies showed a deficit in both the phases of relapse as well as in euthymic state. _Discussion:_ From a neurocognitive perspective a number of explanations arise for this <dis>cognitive impairment</dis>, associated with the existence of subsyndromal affective symptoms. Finally, we review the rehabilitation strategies that could be useful to reverse this deficit that carries important functional implications.
Abstract Introduction Bipolar disorder (BD) is associated with significant impairment in social, work, and family functioning, even in euthymic state. This could be explained by a social cognition deficit. Objective To review the findings on social cognition in bipolar patients through its main dimensions, and through the various stages of the illness. _Method:_ We searched the biomedical literature on Medline, OVID, Proquest, and EMBASE for articles matching the MeSH terms “social cognition”, “theory of mind”, “emotion recognition”, “empathy”, and “emotional processing” to “bipolar disorder”, limiting the results to clinical studies with medium/high methodological quality, in Spanish or English and published in the last 20 years, in children and adults. Results We selected 83 items referring to this topic but only 24 specifically assessed social cognition in bipolar population. Most studies showed a deficit in both the phases of relapse as well as in euthymic state. _Discussion:_ From a neurocognitive perspective a number of explanations arise for this cognitive impairment, associated with the existence of subsyndromal affective symptoms. Finally, we review the rehabilitation strategies that could be useful to reverse this deficit that carries important functional implications.
_Method:_ We searched the biomedical literature on Medline, OVID, Proquest, and EMBASE for articles matching the MeSH terms “social cognition”, “theory of mind”, “emotion recognition”, “empathy”, and “emotional processing” to “bipolar disorder”, limiting the results to clinical studies with medium/high methodological quality, in Spanish or English and published in the last 20 years, in children and adults.
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We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05).
S0213485317301615
Correlations between impairment, psychological distress, disability, and quality of life in peripheral facial palsy
Keywords Peripheral facial palsy Impairment Psychological distress Physical disability Social disability Quality of life
Introduction This paper analyses the correlations between scores on scales assessing impairment, psychological distress, disability, and quality of life in patients with <dis>peripheral facial palsy</dis> (<dis>PFP</dis>). Material and methods We conducted a retrospective cross-sectional study including 30 patients in whom <dis>PFP</dis> had not resolved completely. We used tools for assessing impairment (Sunnybrook Facial Grading System [FGS]), psychological distress (Hospital Anxiety and Depression Scale [HADS]), disability (Facial Disability Index [FDI]), and quality of life (Facial Clinimetric Evaluation [FaCE] scale). Results We found no correlations between FGS and HADS scores, or between FGS and FDI social function scores. However, we did find a correlation between FGS and FDI physical function scores (r=0.54; P<.01), FDI total score (r=0.4; P<.05), FaCE total scores (ρ=0.66; P<.01), and FaCE social function scores (ρ=0.5; P<.01). We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05). Significant correlations were also found between HADS Depression scores and FDI physical function (r=–0.61; P<.01), FDI social function (r=–0.53; P<.01), FDI total (r=–0.66; P<.01), FaCE total (ρ=–0.67; P<.01), and FaCE social scores (ρ=–0.68; P<.01), between FDI physical function scores and FaCE total scores (ρ=0.87; P<.01) and FaCE social function (ρ=0.74; P<.01), between FDI social function and FaCE total (ρ=0.66; P<.01) and FaCE social function scores (ρ=0.72; P<.01), and between FDI total scores and FaCE total (ρ = 0,87; P<.01) and FaCE social function scores (ρ=0.84; P<.01). Conclusion In our sample, patients with more severe impairment displayed greater <dis>physical and global disability</dis> and poorer quality of life without significantly higher levels of <dis>social disability</dis> and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
Introduction This paper analyses the correlations between scores on scales assessing impairment, psychological distress, disability, and quality of life in patients with peripheral facial palsy (PFP). Material and methods We conducted a retrospective cross-sectional study including 30 patients in whom PFP had not resolved completely. We used tools for assessing impairment (Sunnybrook Facial Grading System [FGS]), psychological distress (Hospital Anxiety and Depression Scale [HADS]), disability (Facial Disability Index [FDI]), and quality of life (Facial Clinimetric Evaluation [FaCE] scale). Results We found no correlations between FGS and HADS scores, or between FGS and FDI social function scores. However, we did find a correlation between FGS and FDI physical function scores (r=0.54; P<.01), FDI total score (r=0.4; P<.05), FaCE total scores (ρ=0.66; P<.01), and FaCE social function scores (ρ=0.5; P<.01). We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05). Significant correlations were also found between HADS Depression scores and FDI physical function (r=–0.61; P<.01), FDI social function (r=–0.53; P<.01), FDI total (r=–0.66; P<.01), FaCE total (ρ=–0.67; P<.01), and FaCE social scores (ρ=–0.68; P<.01), between FDI physical function scores and FaCE total scores (ρ=0.87; P<.01) and FaCE social function (ρ=0.74; P<.01), between FDI social function and FaCE total (ρ=0.66; P<.01) and FaCE social function scores (ρ=0.72; P<.01), and between FDI total scores and FaCE total (ρ = 0,87; P<.01) and FaCE social function scores (ρ=0.84; P<.01). Conclusion In our sample, patients with more severe impairment displayed greater physical and global disability and poorer quality of life without significantly higher levels of social disability and psychological distress. Patients with more disability experienced greater psychological distress and had a poorer quality of life. Lastly, patients with more psychological distress also had a poorer quality of life.
We also observed a correlation between HADS Anxiety scores and FDI physical function (r=–0.47; P<.01), FDI social function (r=–0.47; P<.01), FDI total (r=–0.55; P<.01), FaCE total (ρ=–0.49; P<.01), and FaCE social scores (ρ=–0.46; P<.05).
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Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss.
S0001651911000574
Mondini deformity in a case of Turner syndrome. A radiological finding
Keywords Mondini deformity Turner syndrome Cochlear malformation
Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. <dis>Progressive sensorineural hearing loss</dis> is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented <dis>progressive sensorineural hearing loss</dis>. The computed tomography of the ears showed bilateral Mondini deformity.
Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity.
Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. <dis>Progressive sensorineural hearing loss</dis> is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented <dis>progressive sensorineural hearing loss</dis>.
[ { "offsets": [ 94, 132 ], "text": "Progressive sensorineural hearing loss", "type": "DISABILITY" }, { "offsets": [ 433, 471 ], "text": "progressive sensorineural hearing loss", "type": "DISABILITY" } ]
Results The mean population in the studied period was 1,078,406 inhabitants. The Fritz index and the Youth and replacement indices of the active population decreased throughout the period. There was no significant increase in the prevalence of organic mental disorders, psychosis, mood disorders, and substance use in males, or behavioural disorders associated with somatic factors and physiological dysfunctions in females.
S2173505013000022
Changes in administrative prevalence of mental disorders over a 13-year period in Asturias (northern Spain)
Keywords Prevalence Mental disorder Case register Epidemiology
Abstract Introduction The study of administrative prevalence from cumulative psychiatric case registers allows the mental health state of the studied region and the functioning of its Health Services to be estimated. Methods Data were extracted from the Asturias Cumulative Psychiatric Case Register (RACPAS) between January 1st 1998 and December 3rd 2010. Characteristics of the population of the catchment area were studied, and their relationship with the administrative prevalence was analysed. Results The mean population in the studied period was 1,078,406 inhabitants. The Fritz index and the Youth and replacement indices of the active population decreased throughout the period. There was no significant increase in the prevalence of <dis>organic mental disorders</dis>, psychosis, mood disorders, and substance use in males, or <dis>behavioural disorders</dis> associated with somatic factors and physiological dysfunctions in females. There were significant gender differences in the prevalence of all disorders, except for <dis>personality disorders</dis> and <dis>organic mental disorders</dis>. Population ageing had a significant influence on the increase in the prevalence of most <dis>mental disorders</dis> in both males and females. Conclusions A slight general increase in the administrative prevalence of <dis>mental disorders</dis> is observed during the studied period, and it was influenced by population ageing.
Abstract Introduction The study of administrative prevalence from cumulative psychiatric case registers allows the mental health state of the studied region and the functioning of its Health Services to be estimated. Methods Data were extracted from the Asturias Cumulative Psychiatric Case Register (RACPAS) between January 1st 1998 and December 3rd 2010. Characteristics of the population of the catchment area were studied, and their relationship with the administrative prevalence was analysed. Results The mean population in the studied period was 1,078,406 inhabitants. The Fritz index and the Youth and replacement indices of the active population decreased throughout the period. There was no significant increase in the prevalence of organic mental disorders, psychosis, mood disorders, and substance use in males, or behavioural disorders associated with somatic factors and physiological dysfunctions in females. There were significant gender differences in the prevalence of all disorders, except for personality disorders and organic mental disorders. Population ageing had a significant influence on the increase in the prevalence of most mental disorders in both males and females. Conclusions A slight general increase in the administrative prevalence of mental disorders is observed during the studied period, and it was influenced by population ageing.
Results The mean population in the studied period was 1,078,406 inhabitants. The Fritz index and the Youth and replacement indices of the active population decreased throughout the period. There was no significant increase in the prevalence of <dis>organic mental disorders</dis>, psychosis, mood disorders, and substance use in males, or <dis>behavioural disorders</dis> associated with somatic factors and physiological dysfunctions in females.
[ { "offsets": [ 244, 268 ], "text": "organic mental disorders", "type": "DISABILITY" }, { "offsets": [ 328, 349 ], "text": "behavioural disorders", "type": "DISABILITY" } ]
Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella- zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under- diagnosed.
S1695403301777028
Primary varicella-zoster induced rhabdomyolysis
Key words Rhabdomyolysis Varicella Childhood
Primary varicella-zoster infection is very common during childhood and few patients develop complications. The most frequent complications are bacterial infection of the lesions, laryngitis and varicella pneumonia. In the nervous system it can produce encephalitis and especially cerebellitis. We describe a case of primary varicella-zoster induced rhabdomyolysis in a 5-year-old girl with <dis>mental retardation</dis>, microcephalia and mild diplegia who, in the context of varicella infection, presented extreme muscular weakness and prostration. Blood and urine tests showed high creatine phosphokinase concentrations and myoglobinuria. The patient received aggressive intravenous hydration. Evolution was favorable with no renal failure. Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella- zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under- diagnosed. Despite its rarity, this disease should be considered in cases of infection, since early treatment with hyperhydration can prevent complications.
Primary varicella-zoster infection is very common during childhood and few patients develop complications. The most frequent complications are bacterial infection of the lesions, laryngitis and varicella pneumonia. In the nervous system it can produce encephalitis and especially cerebellitis. We describe a case of primary varicella-zoster induced rhabdomyolysis in a 5-year-old girl with mental retardation, microcephalia and mild diplegia who, in the context of varicella infection, presented extreme muscular weakness and prostration. Blood and urine tests showed high creatine phosphokinase concentrations and myoglobinuria. The patient received aggressive intravenous hydration. Evolution was favorable with no renal failure. Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella- zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under- diagnosed. Despite its rarity, this disease should be considered in cases of infection, since early treatment with hyperhydration can prevent complications.
Rhabdomyolysis can produce life-threatening complications such as renal failure, intravascular disseminated coagulation and hyperkaliemia. The disease can be precipitated by alcohol ingestion, compression injury and generalized seizures. Infectious etiology is less common. Few reports have been published on primary varicella- zoster induced rhabdomyolysis but, because creatine phosphokinase concentrations are not routinely performed in varicella infection, very mild cases might have been under- diagnosed.
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The study included 271 patients with a mean age of 81.1±7 years, and mainly women (81.2%). The median hospital stay was 9 days (interquartile range 5 to 14 days). The ability to walk independently decreased after PF from 72.3% to 3.6%. Severe disability cases increased in activities of daily living from 7.9% to 79.5%. Within hospital mortality was 2.2%.
S0211139X17301373
Functional consequences of fragile pelvis fracture. Description of several cases attended by a consultation Geriatrics team
Keywords Pelvic fracture Fracture due to frailty Functional impairment
Introduction. The prevalence of pelvic fracture (PF) due to frailty is increasing, leading to an increase in <dis>functional impairment</dis> in the patient, as well as increasing morbidity and mortality. The aim of the present study is to gain knowledge about the sociodemographic characteristics, as well as the functional features, of patients admitted to hospital with PF and evaluated by a Geriatrics department. The functional burden of PF and the potential influence of geriatric interventions are also assessed. Material and methods. A retrospective study conducted between 1995 and 2015 on all patients older than 65 years old with PF admitted to the Traumatology department, and then assessed in the Geriatrics Department. Sociodemographic information was also collected (age, gender and place of residence), as well as data from the geriatric assessment (baseline situation and at hospital admission), hospital stay, within hospital mortality, and discharge. Results. The study included 271 patients with a mean age of 81.1±7 years, and mainly women (81.2%). The median hospital stay was 9 days (interquartile range 5 to 14 days). The ability to walk independently decreased after PF from 72.3% to 3.6%. Severe disability cases increased in activities of daily living from 7.9% to 79.5%. Within hospital mortality was 2.2%. As regards medical follow-up consultations, the mean length of stay was significantly reduced compared to the assessment consultations (10.0±7.8 vs 16.1±12.0 days, P<.001). Conclusion. PF patients evaluated by the Geriatrics Department were mainly women, with advanced age, and a <dis>severe functional impairment</dis> secondary to PF. The intervention of a geriatrician could contribute to optimise hospital resources.
Introduction. The prevalence of pelvic fracture (PF) due to frailty is increasing, leading to an increase in functional impairment in the patient, as well as increasing morbidity and mortality. The aim of the present study is to gain knowledge about the sociodemographic characteristics, as well as the functional features, of patients admitted to hospital with PF and evaluated by a Geriatrics department. The functional burden of PF and the potential influence of geriatric interventions are also assessed. Material and methods. A retrospective study conducted between 1995 and 2015 on all patients older than 65 years old with PF admitted to the Traumatology department, and then assessed in the Geriatrics Department. Sociodemographic information was also collected (age, gender and place of residence), as well as data from the geriatric assessment (baseline situation and at hospital admission), hospital stay, within hospital mortality, and discharge. Results. The study included 271 patients with a mean age of 81.1±7 years, and mainly women (81.2%). The median hospital stay was 9 days (interquartile range 5 to 14 days). The ability to walk independently decreased after PF from 72.3% to 3.6%. Severe disability cases increased in activities of daily living from 7.9% to 79.5%. Within hospital mortality was 2.2%. As regards medical follow-up consultations, the mean length of stay was significantly reduced compared to the assessment consultations (10.0±7.8 vs 16.1±12.0 days, P<.001). Conclusion. PF patients evaluated by the Geriatrics Department were mainly women, with advanced age, and a severe functional impairment secondary to PF. The intervention of a geriatrician could contribute to optimise hospital resources.
The study included 271 patients with a mean age of 81.1±7 years, and mainly women (81.2%). The median hospital stay was 9 days (interquartile range 5 to 14 days). The ability to walk independently decreased after PF from 72.3% to 3.6%. Severe disability cases increased in activities of daily living from 7.9% to 79.5%. Within hospital mortality was 2.2%.
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The patient had acute kidney injury with an anuria of 3 days, probably secondary to dehydration to vomiting and to NSAIDs. As a result of the acute renal damage, the patient suffered a severe metformin-associated lactic acidosis. The rest of the causes of metabolic acidosis with an increased anion gap were ruled out, as well as a possible sepsis or rhabdomyolysis. Metformin-associated lactic acidosis is an uncommon metabolic condition, but with a high mortality.
S0034935612000953
Metformin-associated lactic acidosis: incidence, diagnosis, prognostic factors and treatment
Keywords Lactic acidosis Metformin Haemodialysis
Abstract We describe the case of a patient with severe lactic acidosis, as well as presenting some data on its incidence, diagnosis, prognostic factors, and the most appropriate treatment. A 76 year-old male patient with diabetes on treatment with metformin, hypertension, dyslipaemia, and with <dis>mild cognitive impairment</dis>, was admitted to the Intensive Care Unit in a state of circulatory shock, requiring aggressive treatment with vasopressors and volume. The patient had acute kidney injury with an anuria of 3 days, probably secondary to dehydration to vomiting and to NSAIDs. As a result of the acute renal damage, the patient suffered a severe metformin-associated lactic acidosis. The rest of the causes of metabolic acidosis with an increased anion gap were ruled out, as well as a possible sepsis or rhabdomyolysis. Metformin-associated lactic acidosis is an uncommon metabolic condition, but with a high mortality. To reduce the mortality of these patients, it is important to make an early diagnosis using the clinical records, physical examination, and laboratory tests, with an early resuscitation with volume, vasopressors, bicarbonate, and renal replacement therapy.
Abstract We describe the case of a patient with severe lactic acidosis, as well as presenting some data on its incidence, diagnosis, prognostic factors, and the most appropriate treatment. A 76 year-old male patient with diabetes on treatment with metformin, hypertension, dyslipaemia, and with mild cognitive impairment, was admitted to the Intensive Care Unit in a state of circulatory shock, requiring aggressive treatment with vasopressors and volume. The patient had acute kidney injury with an anuria of 3 days, probably secondary to dehydration to vomiting and to NSAIDs. As a result of the acute renal damage, the patient suffered a severe metformin-associated lactic acidosis. The rest of the causes of metabolic acidosis with an increased anion gap were ruled out, as well as a possible sepsis or rhabdomyolysis. Metformin-associated lactic acidosis is an uncommon metabolic condition, but with a high mortality. To reduce the mortality of these patients, it is important to make an early diagnosis using the clinical records, physical examination, and laboratory tests, with an early resuscitation with volume, vasopressors, bicarbonate, and renal replacement therapy.
The patient had acute kidney injury with an anuria of 3 days, probably secondary to dehydration to vomiting and to NSAIDs. As a result of the acute renal damage, the patient suffered a severe metformin-associated lactic acidosis. The rest of the causes of metabolic acidosis with an increased anion gap were ruled out, as well as a possible sepsis or rhabdomyolysis. Metformin-associated lactic acidosis is an uncommon metabolic condition, but with a high mortality.
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A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results.
S1888989116300015
Suicidal behaviour characteristics and factors associated with mortality in the hospital setting
Keywords Attempted suicide Hospital mortality Data base Comorbidity Abbreviated Injury Scale
Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods. A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results. Hospital suicidal behaviour predominates in women (58.7%) and in middle-age. Hospital mortality is 2.2% (1.6% in women and 3.2% in men), increasing with age. <dis>Mental disorders</dis> are detected 3-4 times more in secondary diagnoses. The main primary diagnosis (>74%) is poisoning with substances, with lower mortality (∼1%) than injury by hanging and jumping from high places (≥12%), which have the highest numbers. Other factors associated with increased mortality include different medical comorbidities and severity of the injury, while length of stay and <dis>mental disorders</dis> are protective factors. Type of hospital, poisoning, and Charlson index are associated differently with mortality in men and women. Conclusions. Hospitalised suicidal acts show a low mortality, mainly related to comorbidities and the severity of injuries.
Introduction. Suicide is a major public health problem worldwide, and an approach is necessary due to its high potential for prevention. This paper examines the main characteristics of people admitted to hospitals in the Community of Madrid (Spain) with suicidal behaviour, and the factors associated with their hospital mortality. Material and methods. A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results. Hospital suicidal behaviour predominates in women (58.7%) and in middle-age. Hospital mortality is 2.2% (1.6% in women and 3.2% in men), increasing with age. Mental disorders are detected 3-4 times more in secondary diagnoses. The main primary diagnosis (>74%) is poisoning with substances, with lower mortality (∼1%) than injury by hanging and jumping from high places (≥12%), which have the highest numbers. Other factors associated with increased mortality include different medical comorbidities and severity of the injury, while length of stay and mental disorders are protective factors. Type of hospital, poisoning, and Charlson index are associated differently with mortality in men and women. Conclusions. Hospitalised suicidal acts show a low mortality, mainly related to comorbidities and the severity of injuries.
A study was conducted on patients with E950-E959 codes of suicide and self-inflicted injuries of the International Classification of Diseases, Ninth Revision, Clinical Modification, contained in any diagnostic field of the minimum basic data set at hospital discharge between 2003 and 2013. Sociodemographic, clinical and health care variables were assessed by uni- and multivariate logistic regression analysis in the evaluation of factors associated with hospital mortality. Results.
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The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results .
S1138359303742518
Estudio de la mortalidad de una zona de salud. ¿Tiene utilidad en Atención Primaria?
Key words mortality causes prevention standardization Primary Health Care
Objective . Analyze the mortality of the Gandhi functional zone (GFZ) to identify Public Health problems that can be improved from Primary Health Care. Methods . Descriptive study of mortality during the year 1998 in a functional zone of the Health Care Area 4 in the Madrid Community (MC) with a total population of 35,636 persons. The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results . Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), <dis>mental disorders</dis> (15%) endocrine-immunological diseases (27%) and infectious diseases (60%). In men, mortality due to COLD and lung cancer is 53% and 36% greater in the GFZ than in the MC, respectively. In women, mortality due to diabetes is 62% greater than in the MC and due to <dis>dementia</dis> 30% greater. Conclusions . The analysis of mortality in small population nuclei may contribute to detecting health problems that require the action of the Primary Health Care professionals. For the GFZ, control of smoking in males may be the main factor to keep in mind to decrease mortality.
Objective . Analyze the mortality of the Gandhi functional zone (GFZ) to identify Public Health problems that can be improved from Primary Health Care. Methods . Descriptive study of mortality during the year 1998 in a functional zone of the Health Care Area 4 in the Madrid Community (MC) with a total population of 35,636 persons. The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results . Globally, the GFZ presents the same mortality rate adjusted by age as the MC; however, by large groups of causes, in the GFZ, there is an overmortality in tumors (11%), digestive tract diseases (24%), mental disorders (15%) endocrine-immunological diseases (27%) and infectious diseases (60%). In men, mortality due to COLD and lung cancer is 53% and 36% greater in the GFZ than in the MC, respectively. In women, mortality due to diabetes is 62% greater than in the MC and due to dementia 30% greater. Conclusions . The analysis of mortality in small population nuclei may contribute to detecting health problems that require the action of the Primary Health Care professionals. For the GFZ, control of smoking in males may be the main factor to keep in mind to decrease mortality.
The mortality rates have been standardized by the indirect method for large groups according to the ICD-9 and according to specific causes, taking the MC population of the year 1998 as reference. Results .
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Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion.
S0213485316302390
Usefulness of multiparametric computerized tomography findings in the differential diagnosis of stroke mimics of epileptic origin: A preliminary study
Keywords Stroke mimics Cerebral perfusion Computerized Tomography Multiparametric Computerized Tomography Epilepsy Stroke
Objective. Thirty percent of the patients for whom code stroke is activated have stroke mimics, the most common being epilepsy. Our purpose was to evaluate the usefulness of multiparametric CT for differentiating between seizure-related symptoms and vascular events. Material and methods. We conducted a retrospective observational study; data were gathered prospectively during one year. We studied multiparametric CT images of patients admitted following code stroke activation and finally diagnosed with epilepsy. Results. The study included a total of 11 patients; 36% were men and mean age was 74.5 years. Three patients had right hemisphere syndrome, 4 displayed left hemisphere syndrome, and the remaining 4 had <dis>isolated aphasia</dis>. Maximum time from symptom onset to multiparametric CT study was 8.16hours. Perfusion CT results were normal in 2 patients. Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion. The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
Objective. Thirty percent of the patients for whom code stroke is activated have stroke mimics, the most common being epilepsy. Our purpose was to evaluate the usefulness of multiparametric CT for differentiating between seizure-related symptoms and vascular events. Material and methods. We conducted a retrospective observational study; data were gathered prospectively during one year. We studied multiparametric CT images of patients admitted following code stroke activation and finally diagnosed with epilepsy. Results. The study included a total of 11 patients; 36% were men and mean age was 74.5 years. Three patients had right hemisphere syndrome, 4 displayed left hemisphere syndrome, and the remaining 4 had isolated aphasia. Maximum time from symptom onset to multiparametric CT study was 8.16hours. Perfusion CT results were normal in 2 patients. Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion. The most sensitive parameter for differentiating between stroke and epilepsy in our series was increased time to peak in multilobar cortical locations in the absence of large-vessel occlusion and basal ganglia involvement. Multiparametric CT is a fast, readily available, and useful tool for the differential diagnosis of acute-onset neurological signs of epileptic origin in patients initially attended after code stroke activation.
Nine patients showed longer or shorter times to peak (Tmax); cerebral blood volume (CBV) and cerebral blood flow (CBF) maps varied. EEG was performed a maximum of 47.6hours after symptom onset. Four patients showed findings compatible with status epilepticus, 2 displayed focal epileptiform activity, and 5 showed post-ictal slowing ipsilateral to perfusion CT abnormalities. Conclusion.
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We ruled out patients with intracranial haemorrhage, subarachnoid haemorrhage, or other causes of SM that may be detected on the baseline CT scan. Results. Four hundred four of the 4,570 included patients (8.8%) were found to have SM.
S0213485316302213
Description of stroke mimics after complete neurovascular assessment
Keywords Stroke mimic Acute stroke Fibrinolysis Ischaemic stroke Epileptic seizures Stroke Code
Introduction. A considerable percentage of events initially diagnosed as ischaemic stroke have non-cerebrovascular causes; these are called stroke mimics (SM). Currently available evidence about these events is heterogeneous and comes from studies with small samples. Objective. The purpose of our study is to identify conditions that may present as SM, define their epidemiological and clinical characteristics, and determine the percentage of cases of SM treated with intravenous fibrinolysis. Methods. Prospective study including all patients admitted to a tertiary university hospital between June 2005 and April 2015 with a diagnosis of acute stroke. We analysed demographic data, cardiovascular risk factors, time from code stroke activation to admission, stroke severity (NIHSS), final destination after discharge, degree of disability (mRS), and treatment. We compared SM and ischaemic strokes. We ruled out patients with intracranial haemorrhage, subarachnoid haemorrhage, or other causes of SM that may be detected on the baseline CT scan. Results. Four hundred four of the 4,570 included patients (8.8%) were found to have SM. Patients with SM were younger (70.3 vs. 74, P<.0001), less likely to exhibit cardiovascular risk factors and atrial fibrillation (13 vs. 34%, P<.0001), scored lower on the NIHSS at baseline (2 vs. 4, P<.0001), and included fewer cases of <dis>aphasia</dis> (9.4 vs. 19.6%, P<.02) and <dis>dysphagia</dis> (1.2 vs. 17%, P<.0001) than patients with stroke. SM caused fewer code stroke activations (28 vs. 40%, P<.0001). Patients with SM required shorter hospital stays (4.9 vs. 7.8 days, P<.0001), were less frequently admitted to the stroke unit (47 vs. 60%, P<.0001) and more frequently discharged home (95 vs. 62%, P<.0001), and had better outcomes (mRS scores 0-2; 76 vs. 54%, P<.0001). Intravenous fibrinolysis was administered to 4.7% of these patients. Epileptic seizures were the most frequent cause of SM (26%). Conclusions. In our sample, 8.8% of all diagnoses of ischaemic stroke were SM. These events have different demographic, clinical, and prognostic characteristics; epilepsy is the most common aetiology. Despite receiving specialised emergency care, 19 patients with SM (4.7%) were treated with intravenous fibrinolysis.
Introduction. A considerable percentage of events initially diagnosed as ischaemic stroke have non-cerebrovascular causes; these are called stroke mimics (SM). Currently available evidence about these events is heterogeneous and comes from studies with small samples. Objective. The purpose of our study is to identify conditions that may present as SM, define their epidemiological and clinical characteristics, and determine the percentage of cases of SM treated with intravenous fibrinolysis. Methods. Prospective study including all patients admitted to a tertiary university hospital between June 2005 and April 2015 with a diagnosis of acute stroke. We analysed demographic data, cardiovascular risk factors, time from code stroke activation to admission, stroke severity (NIHSS), final destination after discharge, degree of disability (mRS), and treatment. We compared SM and ischaemic strokes. We ruled out patients with intracranial haemorrhage, subarachnoid haemorrhage, or other causes of SM that may be detected on the baseline CT scan. Results. Four hundred four of the 4,570 included patients (8.8%) were found to have SM. Patients with SM were younger (70.3 vs. 74, P<.0001), less likely to exhibit cardiovascular risk factors and atrial fibrillation (13 vs. 34%, P<.0001), scored lower on the NIHSS at baseline (2 vs. 4, P<.0001), and included fewer cases of aphasia (9.4 vs. 19.6%, P<.02) and dysphagia (1.2 vs. 17%, P<.0001) than patients with stroke. SM caused fewer code stroke activations (28 vs. 40%, P<.0001). Patients with SM required shorter hospital stays (4.9 vs. 7.8 days, P<.0001), were less frequently admitted to the stroke unit (47 vs. 60%, P<.0001) and more frequently discharged home (95 vs. 62%, P<.0001), and had better outcomes (mRS scores 0-2; 76 vs. 54%, P<.0001). Intravenous fibrinolysis was administered to 4.7% of these patients. Epileptic seizures were the most frequent cause of SM (26%). Conclusions. In our sample, 8.8% of all diagnoses of ischaemic stroke were SM. These events have different demographic, clinical, and prognostic characteristics; epilepsy is the most common aetiology. Despite receiving specialised emergency care, 19 patients with SM (4.7%) were treated with intravenous fibrinolysis.
We ruled out patients with intracranial haemorrhage, subarachnoid haemorrhage, or other causes of SM that may be detected on the baseline CT scan. Results. Four hundred four of the 4,570 included patients (8.8%) were found to have SM.
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Abstract Objective To analyse the relationship between the primary diagnosis on admission to an Acute Geriatric Unit (AGU) and the risk of hospital mortality and one year after discharge Material and methods A longitudinal study was conducted on patients admitted to the Central Hospital AGU Red Cross in Madrid in 2009. The admission diagnosis was grouped by Diagnosis Related Groups (DRGs). The date of death was collected from the medical charts and the National Death Index Ministry of Health report.
S0211139X15000992
Prognostic value of the primary diagnosis in elderly patients admitted to an acute geriatric unit at discharge and one year later
Keywords Mortality Hospitalisation 80 and over Diagnosis related group Diagnosis
Abstract Objective To analyse the relationship between the primary diagnosis on admission to an Acute Geriatric Unit (AGU) and the risk of hospital mortality and one year after discharge Material and methods A longitudinal study was conducted on patients admitted to the Central Hospital AGU Red Cross in Madrid in 2009. The admission diagnosis was grouped by Diagnosis Related Groups (DRGs). The date of death was collected from the medical charts and the National Death Index Ministry of Health report. The main outcome of study was the association between diagnoses on admission and <dis>functional impairment</dis> at discharge (measured as a loss of 10 or more points between the Barthel Index at discharge and that on admission), mortality during hospitalization, at 3 months and one year after discharge. The multivariate analysis was adjusted for age, sex, comorbidity, functional and cognitive status, and serum albumin. Results The study included1147 patients, with a mean age of 86.7 years (SD ± 6.7), and 66% were women. During admission, 10.1% of patients died and 36.6% had <dis>functional impairment</dis> at discharge. After discharge, 25.5% died at 3 months, and 42.2% at one year. The distribution of the primary diagnoses at admission (between parentheses hospital mortality and at year) were heart failure, 21.4% (8.1% and 37.4%), pneumonia,13.3% (12.3% and 46.4%), and aspiration pneumonia, 4.7% (27.5%, y 71%), respiratory diseases,13.3% (6.6% and 38.2%), urinary infection,10.2% (5.1% and 42.7%), and stroke (excluding AIT), 9.9% (13.3% and 46.9%). In the multivariate analysis, only admissions due to aspiration pneumonia were independently associated with increased risk of hospital mortality (odds ratio, 2.23; 95% CI = 1.13 to 44.42), and stroke with increased risk of <dis>functional impairment</dis> at discharge (odds ratio, 6.01; 95% CI = 3.42-10.57). No diagnosis was independently associated with increased risk of death at 3 months and at year Conclusions Admission from aspiration pneumonia carries an increased risk of death in elderly patients hospitalised for acute medical conditions. After discharge, the risk of death must be attributed to factors other than the admission diagnosis
Abstract Objective To analyse the relationship between the primary diagnosis on admission to an Acute Geriatric Unit (AGU) and the risk of hospital mortality and one year after discharge Material and methods A longitudinal study was conducted on patients admitted to the Central Hospital AGU Red Cross in Madrid in 2009. The admission diagnosis was grouped by Diagnosis Related Groups (DRGs). The date of death was collected from the medical charts and the National Death Index Ministry of Health report. The main outcome of study was the association between diagnoses on admission and functional impairment at discharge (measured as a loss of 10 or more points between the Barthel Index at discharge and that on admission), mortality during hospitalization, at 3 months and one year after discharge. The multivariate analysis was adjusted for age, sex, comorbidity, functional and cognitive status, and serum albumin. Results The study included1147 patients, with a mean age of 86.7 years (SD ± 6.7), and 66% were women. During admission, 10.1% of patients died and 36.6% had functional impairment at discharge. After discharge, 25.5% died at 3 months, and 42.2% at one year. The distribution of the primary diagnoses at admission (between parentheses hospital mortality and at year) were heart failure, 21.4% (8.1% and 37.4%), pneumonia,13.3% (12.3% and 46.4%), and aspiration pneumonia, 4.7% (27.5%, y 71%), respiratory diseases,13.3% (6.6% and 38.2%), urinary infection,10.2% (5.1% and 42.7%), and stroke (excluding AIT), 9.9% (13.3% and 46.9%). In the multivariate analysis, only admissions due to aspiration pneumonia were independently associated with increased risk of hospital mortality (odds ratio, 2.23; 95% CI = 1.13 to 44.42), and stroke with increased risk of functional impairment at discharge (odds ratio, 6.01; 95% CI = 3.42-10.57). No diagnosis was independently associated with increased risk of death at 3 months and at year Conclusions Admission from aspiration pneumonia carries an increased risk of death in elderly patients hospitalised for acute medical conditions. After discharge, the risk of death must be attributed to factors other than the admission diagnosis
Abstract Objective To analyse the relationship between the primary diagnosis on admission to an Acute Geriatric Unit (AGU) and the risk of hospital mortality and one year after discharge Material and methods A longitudinal study was conducted on patients admitted to the Central Hospital AGU Red Cross in Madrid in 2009. The admission diagnosis was grouped by Diagnosis Related Groups (DRGs). The date of death was collected from the medical charts and the National Death Index Ministry of Health report.
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Material and methods We compared 2 groups of 20 patients who underwent operation for total laryngectomy and for other ENT pathologies. On the day before the operation, we collected demographic and medical data and administered the Spanish versions of the Folstein Mini-Mental State Examination (MMSE) and the Goldberg General Health Questionnaire (GHQ-28). We also investigated whether the patients had any fear or fear of surgery and what that fear was.
S000165191000213X
Assessment of degree of psychological health involvement in pre-laryngectomized patients
Keywords Total laryngectomy Preoperative fear Anxiety Surgical patient
Abstract Introduction and objective Several authors have found increased anxiety in patients the day before an intervention and its correlation with anxiety levels the post-operative period. In this study, we determined a number of problems to which patients who underwent total laryngectomy often objected: the tracheostomy, being left without a voice and it being an aggressive, major surgery. Our objective was to assess the degree of anxiety and fears of the patient prior to total laryngectomy. Material and methods We compared 2 groups of 20 patients who underwent operation for total laryngectomy and for other ENT pathologies. On the day before the operation, we collected demographic and medical data and administered the Spanish versions of the Folstein Mini-Mental State Examination (MMSE) and the Goldberg General Health Questionnaire (GHQ-28). We also investigated whether the patients had any fear or fear of surgery and what that fear was. Results Completion of the MMSE revealed <dis>cognitive impairment</dis> in only one patient. We subsequently conducted the GHQ-28 and found psychological distress in 20-25% of our cases. When the different fears in both groups were compared by X2, the results were not statistically significant. Conclusions Total laryngectomy causes the <dis>loss of oral communication</dis> and impairs self- image, contributing to a strong emotional reaction. It is essential to have effective rehabilitation, which considers all aspects of health-sickness, such as the recovery of spoken language, social aspects and the psychological characteristics, vital for proper comprehensive patient management.
Abstract Introduction and objective Several authors have found increased anxiety in patients the day before an intervention and its correlation with anxiety levels the post-operative period. In this study, we determined a number of problems to which patients who underwent total laryngectomy often objected: the tracheostomy, being left without a voice and it being an aggressive, major surgery. Our objective was to assess the degree of anxiety and fears of the patient prior to total laryngectomy. Material and methods We compared 2 groups of 20 patients who underwent operation for total laryngectomy and for other ENT pathologies. On the day before the operation, we collected demographic and medical data and administered the Spanish versions of the Folstein Mini-Mental State Examination (MMSE) and the Goldberg General Health Questionnaire (GHQ-28). We also investigated whether the patients had any fear or fear of surgery and what that fear was. Results Completion of the MMSE revealed cognitive impairment in only one patient. We subsequently conducted the GHQ-28 and found psychological distress in 20-25% of our cases. When the different fears in both groups were compared by X2, the results were not statistically significant. Conclusions Total laryngectomy causes the loss of oral communication and impairs self- image, contributing to a strong emotional reaction. It is essential to have effective rehabilitation, which considers all aspects of health-sickness, such as the recovery of spoken language, social aspects and the psychological characteristics, vital for proper comprehensive patient management.
Material and methods We compared 2 groups of 20 patients who underwent operation for total laryngectomy and for other ENT pathologies. On the day before the operation, we collected demographic and medical data and administered the Spanish versions of the Folstein Mini-Mental State Examination (MMSE) and the Goldberg General Health Questionnaire (GHQ-28). We also investigated whether the patients had any fear or fear of surgery and what that fear was.
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Abstract Gastroesophageal reflux is a highly prevalent clinical entity consisting of the passage of gastric or duodenal contents into the esophagus in the absence of vomiting, belching, or any other situation that induces. It is caused by an imbalance between esophageal defensive factors (antireflux barrier, esophageal clearance and tissue defense) and aggressive factors (the refluxed material, increased intragastric pressure and delayed emptying).
S0304541212702536
Gastroesophageal reflux disease
Keywords Gastroesophageal Reflux Disease Endoscopy Protom Pump Inhibitors Oesophagitis
Abstract Gastroesophageal reflux is a highly prevalent clinical entity consisting of the passage of gastric or duodenal contents into the esophagus in the absence of vomiting, belching, or any other situation that induces. It is caused by an imbalance between esophageal defensive factors (antireflux barrier, esophageal clearance and tissue defense) and aggressive factors (the refluxed material, increased intragastric pressure and delayed emptying). Heartburn and regurgitation are the main symptoms but also may be other as <dis>dysphagia</dis>, chronic cough, chest pain, otolaryngology pathology and asthma. Clinical response to treatment with inhibitors of proton pump is a first step in the diagnostic process and may continue with the implementation of upper endoscopy and pH monitoring in selected cases. The key to treatment are the proton pump inhibitors, having shown that descending patterns (high initial doses) are the most cost-effective. Only a small percentage of patients with gastroesophageal reflux disease need surgery and is usually limited to the occurrence of complications such as Barrett's esophagus, strictures and esophageal adenocarcinoma or failure of medical treatment.
Abstract Gastroesophageal reflux is a highly prevalent clinical entity consisting of the passage of gastric or duodenal contents into the esophagus in the absence of vomiting, belching, or any other situation that induces. It is caused by an imbalance between esophageal defensive factors (antireflux barrier, esophageal clearance and tissue defense) and aggressive factors (the refluxed material, increased intragastric pressure and delayed emptying). Heartburn and regurgitation are the main symptoms but also may be other as dysphagia, chronic cough, chest pain, otolaryngology pathology and asthma. Clinical response to treatment with inhibitors of proton pump is a first step in the diagnostic process and may continue with the implementation of upper endoscopy and pH monitoring in selected cases. The key to treatment are the proton pump inhibitors, having shown that descending patterns (high initial doses) are the most cost-effective. Only a small percentage of patients with gastroesophageal reflux disease need surgery and is usually limited to the occurrence of complications such as Barrett's esophagus, strictures and esophageal adenocarcinoma or failure of medical treatment.
Abstract Gastroesophageal reflux is a highly prevalent clinical entity consisting of the passage of gastric or duodenal contents into the esophagus in the absence of vomiting, belching, or any other situation that induces. It is caused by an imbalance between esophageal defensive factors (antireflux barrier, esophageal clearance and tissue defense) and aggressive factors (the refluxed material, increased intragastric pressure and delayed emptying).
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Background Little is published about the impact of the 2008 economic crisis on mental health services in Spain. Method An interrupted time series analysis was conducted to investigate a potential short-term association between the 2008 economic crisis and the number of psychiatric hospital admissions. The timing of the intervention (April 2008) was based on observed changes in Gross Domestic Product (GDP).
S188898911730126X
The impact of the 2008 economic crisis on the increasing number of young psychiatric inpatients
Keywords Hospital Mental health 2008 economic crisis
Background Little is published about the impact of the 2008 economic crisis on mental health services in Spain. Method An interrupted time series analysis was conducted to investigate a potential short-term association between the 2008 economic crisis and the number of psychiatric hospital admissions. The timing of the intervention (April 2008) was based on observed changes in Gross Domestic Product (GDP). Data on 1,152,880 psychiatric inpatients from the national Hospital Morbidity Survey, 69 months before and after the onset of the economic crisis (April 2008), were analyzed. Results Age-adjusted psychiatric (ICD9 290-319) hospital discharge rates significantly increased from April 2008, matching the onset of the crisis, especially for inpatients aged 15-24 years old and to a less extend for inpatients aged 25-34 years old. Other age groups were not affected. There was a significant increase in diagnoses for <dis>disturbance of conduct and emotions</dis>, depression, <dis>neurotic and personality disorders</dis> and alcohol and drug disorders; however, diagnoses for <dis>mental retardation</dis> and organic psychosis for 15-34 years old inpatients were unaffected. Conclusions Psychiatric hospital admissions abruptly increased in April 2008, coinciding with the onset of the economic crisis. We identified age groups and diagnoses affected. Increased hospitalizations were found only at the age-ranges most affected by the rise in unemployment. The diagnoses affected were those most sensitive to environmental changes.
Background Little is published about the impact of the 2008 economic crisis on mental health services in Spain. Method An interrupted time series analysis was conducted to investigate a potential short-term association between the 2008 economic crisis and the number of psychiatric hospital admissions. The timing of the intervention (April 2008) was based on observed changes in Gross Domestic Product (GDP). Data on 1,152,880 psychiatric inpatients from the national Hospital Morbidity Survey, 69 months before and after the onset of the economic crisis (April 2008), were analyzed. Results Age-adjusted psychiatric (ICD9 290-319) hospital discharge rates significantly increased from April 2008, matching the onset of the crisis, especially for inpatients aged 15-24 years old and to a less extend for inpatients aged 25-34 years old. Other age groups were not affected. There was a significant increase in diagnoses for disturbance of conduct and emotions, depression, neurotic and personality disorders and alcohol and drug disorders; however, diagnoses for mental retardation and organic psychosis for 15-34 years old inpatients were unaffected. Conclusions Psychiatric hospital admissions abruptly increased in April 2008, coinciding with the onset of the economic crisis. We identified age groups and diagnoses affected. Increased hospitalizations were found only at the age-ranges most affected by the rise in unemployment. The diagnoses affected were those most sensitive to environmental changes.
Background Little is published about the impact of the 2008 economic crisis on mental health services in Spain. Method An interrupted time series analysis was conducted to investigate a potential short-term association between the 2008 economic crisis and the number of psychiatric hospital admissions. The timing of the intervention (April 2008) was based on observed changes in Gross Domestic Product (GDP).
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Development This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation.
S0213485314002321
Clinical, molecular, and pharmacological aspects of FMR1 related disorders
Keywords Intellectual disability Fagile X mental retardation protein Autism spectrum disorders Ribonucleic acid-binding proteins Deoxyribonucleic acid methylation
Abstract Background Fragile X syndrome, the most common inherited cause of <dis>intellectual disability</dis>, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene ( _FMR1_ ) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of _FMR1_ , which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as <dis>autism</dis> and <dis>learning disabilities</dis> as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of <dis>neuropsychiatric disorders</dis>, and they will probably contribute to development of new and specific treatments.
Abstract Background Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene ( _FMR1_ ) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of _FMR1_ , which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.
Development This disorder is caused by expansion of the CGG repeat (> 200 repeats) in the 5 prime untranslated region of _FMR1_ , resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation.
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