Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994. Most cases of EE have been described in individuals of Mediterranean or Arabic origin. Signs and symptoms
Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The bodys network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy. EE is often identified by urine organic acid analysis, the excretion of ethylmalonic acid, methylsuccinic acid, isobutyrylglycine and isovalerylglucine. Patients will also often have elevated thiosulphate concentration in their urine.The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported, and there can be considerable phenotypic variation, even within families. The life expectancy of individuals with EE is less than ten years.
Pelvic floor dysfunction is a term used for a variety of disorders that occur when pelvic floor muscles and ligaments are impaired. The condition affects up to 50 percent of women who have given birth. Although this condition predominantly affects women, up to 16 percent of men are affected as well. Symptoms can include pelvic pain, pressure, pain during sex, urinary incontinence (UI), overactive bladder, bowel incontinence, incomplete emptying of feces, constipation, myofascial pelvic pain and pelvic organ prolapse. When pelvic organ prolapse occurs, there may be visible organ protrusion or a lump felt in the vagina or anus.Common treatments for pelvic floor dysfunction are surgery, medication, physical therapy and lifestyle modifications. Epidemiology
Pelvic floor dysfunction is defined as a herniation of the pelvic organs through the pelvic organ walls and pelvic floor. The condition is widespread, affecting up to 50 percent of women at some point in their lifetime. About 11 percent of women will undergo surgery for urinary incontinence or pelvic organ prolapse by age 80. Women who experience pelvic floor dysfunction are more likely to report issues with arousal combined with dyspareunia. For women, there is a 20.5% risk for having a surgical intervention related to stress urinary incontinence. The literature suggests that white women are at increased risk for stress urinary incontinence.Though pelvic floor dysfunction is thought to more commonly affect women, 16% of men have been identified with pelvic floor dysfunction.