Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Rectal suction biopsy with acetylcholinesterase (AChE) histochemistry has gained increased acceptance as the means of definitely diagnosing Hirschsprung's disease (HD) as well as of excluding this diagnosis when evaluating children with low intestinal obstruction or chronic constipation since the report of Meier-Ruge et al. in 1972. But this AChE histochemical study has not been reported yet in Korea. During the 14-month period from April, 1991 through June, 1992, 37 children, aged 3 days to 17 years had rectal suction biopsies for the diagnosis or exclusion of HD. In this study, AChE histochemistry (N = 37) was compared with hematoxylin & eosin (H&E) staining of same suction biopsy specimens (N = 35) for diagnostic accuracy. The histochemical criterion used for the diagnosis of Hirschsprung's disease was that of Chow et al. (1977), i.e., the presence of many coarse discrete cholinergic fibers in the muscularis mucosae and in the immediately subjacent submucosa regardless of an infiltration of cholinergic fibers in the lamina propria. Of 13 biopsies from the patients with Hirschsprung's disease (N = 13), there were 12 positive reactions, and one false negative reaction in a neonate with total colonic aganglionosis. All biopsies from 24 unaffected children demonstrated negative reactions with no false positive reaction. In comparison, of the 35 specimens examined by H&E staining, ganglion cells were present in the submucosal Meissner's plexus only in 15 of these 24 unaffected children. In conclusion, a 97% diagnostic accuracy was achieved with AChE histochemistry compared with a 74% accuracy with H&E staining (P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung's disease. 129 39

Rectal biopsies of 5 children with Hirschsprung's disease and biopsies of 41 patients with chronic constipation of other causes, such as neuronal intestinal dysplasia, hypoganglionosis and chronic intestinal pseudo-obstruction (CIPSO), were investigated, using a monoclonal antibody against synaptophysin. Electron microscopy was performed in some cases. Synaptophysin, which stained adrenergic, cholinergic and neuroendocrine structures, as well, consequently, was not a suitable marker for one particular transmitter system. Normo-, hypo- and hyperganglionotic submucous plexuses were reliably stained. Hypertrophic submucosal nerve fibers, characteristic of Hirschsprung's disease, were of poor synaptophysin positivity, whereas acetylcholinesterase-positive mucosal nerve fibers exhibited stronger immunoreactivity. A comparable but regionally varying staining reaction in mucosal nerve fibers was found in CIPSO cases. Mucosal portions of histologically normal biopsies were synaptophysin-negative. Synaptophysin antibodies may support acetylcholinesterase investigation and thus are useful under diagnostic aspects. However, they are practicable neither for better distinction in differential diagnosis of Hirschsprung's disease nor for pathogenetic research.
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PMID:[Immunohistochemical studies using synaptophysin in intestinal biopsies in Hirschsprung disease]. 147 81

Although the etiology of Hirschsprung's disease and neuronal intestinal dysplasia remains obscure, both have histological abnormalities involving ganglion cells and neuronal elements. Searching for a common pathway that may inhibit normal maturation of neurogenic precursors, we examined the possible role of an immune mechanism in the maldevelopment of the enteric neural network. Six patients with Hirschsprung's disease were studied by comparing biopsy specimens from diseased colon with ones taken from proximal ganglionic colon in the same patients. These were similarly compared with colonic biopsy specimens from patients studied with chronic constipation or bowel removed at the time of operation for other disorders. Biopsies were taken from four other patients with neuronal intestinal dysplasia. Each was examined by hematoxylin & eosin staining, acetylcholinesterase histochemistry, and immunohistochemistry of major histocompatibility complex (MHC) class I and class II antigens. All rectal samples from Hirschsprung's disease patients exhibited elevated acetylcholinesterase histochemistry and absent ganglia to confirm the diagnosis. These findings were correlated with marked elevation of class II MHC in the aganglionic area, whereas the proximal normal ganglionic segments showed no elevation. Rectal biopsy specimens from patients with chronic constipation exhibited no such elevation. A similar elevation of class II MHC was detected in the mucosa and submucosa of all four patients with the rare neuronal intestinal dysplasia disorder whose diagnosis was confirmed by giant ganglia in Auerbach's plexuses, aberrant Meissner's ganglia in the lamina propria mucosa, and giant neurofibrils in the mucosa and submucosa. The correlation of elevated class II MHC in these two neuronal dysfunction disorders may indicate an underlying autoimmune mechanism as is seen in thyroiditis and insulin dependent diabetes mellitus.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Ectopic class II major histocompatibility antigens in Hirschsprung's disease and neuronal intestinal dysplasia. 150 Oct 11

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

Three hundred and seventy-two rectal mucosal biopsies, taken from 150 children and young adults with chronic constipation, were subjected to histochemical and biochemical analysis of acetylcholinesterase to excude Hirschsprung's disease. The relative merits of the procedures were compared. The histochemical method was considered to be the most practical for laboratories handling small numbers of biopsies but the biochemical estimation of acetylcholinesterase activity was found to be a useful complementary procedure and an accurate quantitative assessment of enzyme activity.
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PMID:Histochemical diagnosis of Hirschsprung's disease and a comparison of the histochemical and biochemical activity of acetylcholinesterase in rectal mucosal biopsies. 740 Mar 34

The aim of this study was to review critically the diagnostic features of intestinal neuronal dysplasia type B (IND B). Over a period of 5 years colonic mucosal biopsies of 773 children with symptoms of chronic constipation were examined. Four biopsies taken 2-10 cm above the pectinate line were cut in serial sections and histochemical lactate dehydrogenase, succinate dehydrogenase, (SDH) and acetylcholinesterase (AChE) reactions performed. Presence of giant ganglia of the submucosal plexus, being characterized by more than seven nerve cells, established the diagnosis of IND B. Giant ganglia were found to be age-independent changes, while hyperplasia of the submucosal plexus, increase of AChE activity in nerve fibres of the lamina propria and low SDH activity in nerve cells proved to be age-dependent findings which disappear during the maturation of the enteric nervous system. Using these criteria IND B was diagnosed in 209 children. In 64 of these patients a combination of IND B and aganglionosis (Hirschsprung's disease) was found. IND B seems to be related to premature expression of laminin A during embryogenesis, resulting in premature nerve cell differentiation in the myenteric and submucosal plexus, which in turn blocks neuroblast colonization of the rectum. IND B, hypoganglionosis and aganglionosis, which are often combined, may therefore be considered to be different manifestations of the same developmental abnormality.
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PMID:Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B) 754 72

Congenital aganglionosis or Hirschsprung's disease (HD) characteristically presents with involvement of the sigmoid colon and rectum. There is an associated increase in cholinergic and adrenergic innervation in the affected bowel wall. Diagnosis of HD in the neonatal period is readily achieved via submucosal rectal biopsy with recognition of the immaturity of ganglion cells within the first year of life, use of a standardized protocol, and supplemental acetylcholinesterase stain. Morbidity and mortality from HD occur caused by Hirschsprung's-associated enterocolitis (HAEC); the pathologist can alert the clinician to the presence of HAEC. The HD variant to be aware of is total colonic aganglionosis, which may lack hypertrophic nerves and increased cholinergic nerve endings and contain zonal areas of some ganglion cells. Pseudo HD includes intestinal neuronal dysplasia (IND), chronic idiopathic intestinal pseudo obstruction (CIIP), and chronic constipation in children. Intestinal neuronal dysplasia is characterized by hyperganglionosis, whereas CIIP and chronic constipation in children share a common, newly described myopathic pathology. In this review investigation into peptidergic (VIPergic) innervation in pseudo HD and HD shows increased VIPergic immunostaining in CIIP, chronic constipation, and the ganglionic portion of HD; however, the VIPergic pattern is not diagnostically selective. Until the advent of new molecular biological techniques, histopathology remains the diagnostic gold standard in HD.
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PMID:Aganglionosis and related disorders. 795 58

Intestinal neuronal dysplasia (IND) has been described proximal to the aganglionic segment in Hirschsprung's disease and less frequently as an isolated condition. Familial occurrence of IND is rare. We report a case of monozygotic twins affected with IND. One-year-old male monozygotic twins presented with a history of chronic constipation and abdominal distension since birth. At presentation, both twins had fecal impaction with palpable fecal-filled loops of bowel. Barium enema in both patients showed gross fecal loading of the sigmoid colon and rectum. Delayed films taken at 48 h showed marked barium retention. Suction rectal biopsy specimens examined by acetylcholinesterase (AChE) histochemistry in both patients showed moderately increased AChE-positive nerve fibers in the lamina propria, muscularis mucosae, and around submucosal blood vessels, as well as hyperplasia of submucous plexus with formation of giant ganglia. Both children underwent extended internal sphincter myectomy. Six months later, both patients had normal bowel function. The occurrence of IND in twins suggests that genetic factors are involved in the etiology of this disease.
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PMID:Intestinal neuronal dysplasia in twins. 873 5

The article contains the analysis of the additional diagnostic methods in children with Hirschsprung's disease. The main role belongs to the histobiochemical investigation of the rectal mucosa that can help to estimate acetylcholinesterase activity for the diagnosis of distal aganglionosis. The results of 100 biopsies in 93 children with chronic obstipation were examined. The analysis helped to find correlation between chronic constipation and activity of acetyicholinesterase. The use of hystobiochemical method helped to determine the distal form of congenital aganglionosis in 20 children. 10 patients had surgery with good results in short-term postoperative period.
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PMID:[Diagnosis and surgical treatment of distal congenital intestinal aganglionosis in children]. 892 66


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