Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.1.7 (acetylcholinesterase)
 28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amniotic fluid acetylcholinesterase (AChe) activity was assayed in second trimester amniotic fluids by inhibition of non-specific cholinesterase using lysivane. Of the 196 samples analysed, 146 were from normal pregnancies; 11 (5.6%) from severe open neural tube defects; two from small open spina bifidas; seven from fetal chromosome abnormalities and two from severe skeletal dysplasias. In addition nine amniotic fluids were meconium stained and 19 (9.7%) had varying degrees of blood staining. Acetylcholinesterase values remained relatively constant from 13-21 weeks gestation in normal pregnancies and a cut-off limit of 3.2 U/l was set (mean + 2 SD). Heavily blood stained amniotic fluids were associated with AChe levels on or above the normal cut-off limit. Meconium staining caused a non-significant elevation of AChe. No significant elevation of AChe was demonstrated for fetal chromosome abnormalities, or severe skeletal dysplasias. Anencephaly and severe open spina bifida had significantly elevated AChe levels.
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PMID:Second trimester amniotic fluid acetylcholinesterase quantitation in the prenatal diagnosis of neural tube defects. 657 58

Hirschsprung enterocolitis (HEC) is an uncommon, albeit well known, complication of Hirschsprung disease (HD). It is multifactorial and can appear in different age groups, but is particularly important in the neonatal period where it is characteristically seen in full-term neonates. Two cases of HEC are reported that were diagnosed at post-mortem examination, which presented as early sudden neonatal death, with a review the literature on fatal Hirschsprung enterocolitis. Case 1 was a 4-day old male neonate who was found unwell, struggling to breath, and with green vomitus. He was taken to hospital and pronounced dead a short time later. According to the parents meconium was passed on the first day. Post-mortem examination demonstrated necrotizing enterocolitis with isolated bowel perforation. Histology disclosed unsuspected HD. Case 2 was a 2-day old male neonate who was found wheezing with green vomitus. He arrived floppy, cyanosed, and in shock at the hospital and died a few hours later. Meconium was not passed, according to the parents. Post-mortem examination revealed necrotizing enterocolitis. There was also recto-sigmoidal aganglionosis and acetylcholinesterase staining confirmed HD. HEC is a multifactorial and sometimes recurrent complication of HD which characteristically develops in full-term neonates. Presentation with early sudden neonatal death is rare but should be considered in the diagnostic work-up of sudden deaths in this age group.
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PMID:Sudden unexpected early neonatal death due to undiagnosed Hirschsprung disease enterocolitis: a report of two cases and literature review. 2384 58