Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.8 (cholinesterase)
 12,691 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hirschsprung's disease is rare in adults and represents a unique problem in the diagnosis and therapy. The permanent symptoms of the disease are persistent chronic constipation and meteorism. The degree of constipation depends on the length and narrowing of the aganglionary segment, diet and compensatory capacities of the bowel. Already known characteristics of agangliosis (absence of ganglions cells in intramuscular and submucous plexus, changes in nerve fibers and increased cholinesterase activity of the parasympathetic nerve fibers) cause impairment in peristalsis of the aganglionary segment and insufficient relaxation of the internal anal sphincter. The result is a functional refractory constipation. The disease can be diagnosed on the basis of the history, RTG examination, electromanometry and histopathology. In the majority of cases RTG examination is very reliable if performed according to generally accepted criteria. It is important to reveal the narrowed aganglionary area by oblique and profile images during irrigoscopy and irrigography. The treatment is surgical. The preferred operations are those with a combined transabdominal-transanal approach. Such operations are the most successful in management of constipation and maintenance of contingency. The authors present three cases. Three patients were old between 21 and 23 years. Their stools ranged from 10 days to two months (a stool per 10 days to two months). The diagnosis was established for all three patients by RTG examinations and histopathological findings. All bore the operation very successfully. Three various operation techniques were used according to surgeon's choice.
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PMID:[Megacolon congenitum (Hirschsprung's disease) in adults]. 179 85

Over a 7-year period, 213 children were investigated for failure to pass meconium or for chronic constipation. Of these, 45 were confirmed to have Hirschsprung's disease; in this group the acetylcholinesterase activity in rectal biopsy tissue was significantly increased (P less than .001; mean 34.2, 95% confidence limits, 8.6 to 95.2) units g-1 when compared with the non-Hirschsprung's group (mean 6.6, 95% confidence limits, 2.0 to 15.9 units g-1). By expressing the acetylcholinesterase activity as a percentage of the total cholinesterase activity it is possible to compensate for evaporative weight loss and the combination of these two measurements improves the overall diagnostic value of the test. There were no false-positive and only two false-negative results.
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PMID:A 7-year study of the diagnostic value of rectal mucosal acetylcholinesterase measurement in Hirschsprung's disease. 382 14