History
The first CDG patients (twin sisters) were described in 1980 by Jaeken et al. Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone levels (e.g.prolactin, FSH and GH). During the next 15 years the underlying defect remained unknown but since the plasmaprotein transferrin was underglycosylated (as shown by e.g. isoelectric focusing), the new syndrome was named carbohydrate-deficient glycoprotein syndrome (CDGS) Its "classical" phenotype included psychomotor retardation, ataxia, strabismus, anomalies (fat pads and inverted nipples) and coagulopathy.In 1994, a new phenotype was described and named CDGS-II. In 1995, Van Schaftingen and Jaeken showed that CDGS-I (now PMM2-CDG) was caused by the deficiency of the enzyme phosphomannomutase. This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.In 1998, Niehues described a new CDG syndrome, MPI-CDG, which is caused by mutations in the enzyme metabolically upstream of PMM2, phosphomannose isomerase (PMI). A functional therapy for MPI-CDG, alimentary mannose was also described. The characterization of new defects took increased and several new Type I and Type II defects were delineated.In 2012, Need described the first case of a congenital disorder of deglycosylation, NGLY1 deficiency. A 2014 study of NGLY1 deficient patients found similarities with traditional congenital disorders of glycosylation.
Uterine rupture is when the muscular wall of the uterus tears during pregnancy or childbirth. Symptoms, while classically including increased pain, vaginal bleeding, or a change in contractions, are not always present. Disability or death of the mother or baby may result.Risk factors include vaginal birth after cesarean section (VBAC), other uterine scars, obstructed labor, induction of labor, trauma, and cocaine use. While typically rupture occurs during labor it may occasionally happen earlier in pregnancy. Diagnosis may be suspected based on a rapid drop in the babys heart rate during labor. Uterine dehiscence is a less severe condition in which there is only incomplete separation of the old scar.Treatment involves rapid surgery to control bleeding and delivery of the baby. A hysterectomy may be required to control the bleeding. Blood transfusions may be given to replace blood loss. Women who have had a prior rupture are generally recommended to have C-sections in subsequent pregnancies.Rates of uterine rupture during vaginal birth following one previous C-section, done by the typical technique, are estimated at 0.9%. Rates are greater among those who have had multiple prior C-sections or an atypical type of C-section. In those who do have uterine scarring, the risk during a vaginal birth is about 1 per 12,000. Risk of death of the baby is about 6%. Those in the developing world appear to be affected more often and have worse outcomes. Signs and symptoms
Symptoms of a rupture may be initially quite subtle.