Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hirschsprung's disease is reported in 11 adults. About half of the patients had had previous surgery without relief of their symptoms. Diagnosis is established by a history of obstinate constipation since birth, the physical finding of abdominal distension and signs of large bowel obstruction without mechanical impediment. The definite diagnosis of Hirschsprung's disease rests on the demonstration of the absence of intramural ganglion cells in the rectum. The patients reported on underwent either the Rehbein-type operation or the Duhamel retrorectal pull-through. A three-stage procedure is recommended. Late results were satisfactory with both techniques provided there had been adequate resection of the aganglionic segment and anal dilatation to overcome the spasm of the internal anal sphincter.
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PMID:[Congenital megacolon in adults]. 723 79

A case of cystic duplication of the rectum is presented. This infant was admitted with progressive tenesmus and constipation resulting in intestinal obstruction. Rectal examination revealed a tense, cystic presacral mass. Barium enema confirmed the presence of the cyst. Complete excision resulted in a cure and histologic findings showed it to be a rectal duplication.
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PMID:Cystic duplication of the rectum: a case report. 737 5

Spontaneous perforation of the colon by a barium stereoraceous fecaloma occurred two weeks after an upper gastrointestinal x-ray without intervening constipation or symptoms of intestinal obstruction. This patient is chronically uremic as have been a high percentage of the few previously reported similar cases. Renal failure and the associated factors in the management of uremia such as antacids, barium examinations, inactivity, changes in diet and finally abnormalities of the colonic mucosa due to uremia may all predispose these patients to an increased risk for this unusual serious complication.
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PMID:Spontaneous perforation of the colon in a hemodialysis patient. 744 20

We used a whole-gut perfusion technique to study subclinical gut inflammation in children with cystic fibrosis (18 elective tests, three lavages to treat distal intestinal obstruction syndrome); and in 12 control children with constipation or pre-colonoscopy. We assayed for haemoglobin, IgG, albumin, alpha-1-antitrypsin, granulocyte elastase, interleukin-1 beta (IL-1 beta) and IL-8 concentrations in whole-gut lavage fluid. Results for two children with distal intestinal obstruction syndrome, the only children in the series taking Nutrizym 22, were strikingly abnormal. This new test has revealed subclinical gut mucosal inflammation in a minority of CF children, for which distal intestinal obstruction syndrome, Nutrizym 22 treatment, or both, may be risk factors.
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PMID:Gut inflammation in children with cystic fibrosis on high-dose enzyme supplements. 856 82

The clinical experience of 137 patients treated by one pediatric surgeon at HanYang University Hospital over 12 years was analyzed. The sex ratio was 3.6:1 with male predominance. Neonatal Hirschsprung's disease (HD) occurred in 70 cases (51.1%). One hundred fourteen cases (83.2%) were short-segment and 23 cases (16.8%) were long-segment disease, of which 4 cases were total colon aganglionosis. Symptoms were abdominal distension, vomiting, constipation, and delayed passage of meconium. Family history was noted in 4 cases: 3 involved siblings and 1 involved relatives. All patients were male and had short-segment diseases. There were 3 pairs of monozygotic twins discordant for HD. Seventy-seven two-stage Duhamel operations were performed at the age of 121 +/- 41.3 days. Primary Duhamel operations were performed on 30 children. Anorectal myectomies were performed on 12 cases of short rectal aganglionosis. The incidence of enterocolitis was 25.5% preoperatively and 10.1% postoperatively. Complications after the Duhamel operation were intestinal obstruction (3), wound disruption (4), and septum reformation (3) with fecaloma formation in the blind rectal pouch. Bowel function was normalized within 3 months in 77.3% and within 1 year after operation in 91.6%. Duhamel operation with a GIA stapler after preliminary colostomy could be done at the age of 104 days on average with good functional results and with acceptable morbidity. Primary Duhamel operation could be done safely on the patients whose conditions were diagnosed after 90 days of life with good results. There was no mortality after Duhamel operation.
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PMID:Hirschsprung's disease: one surgeon's experience in one institution. 762 18

Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigmoid colon only (short segment HSCR), while in 20% of cases it extends toward the proximal end of the colon (long segment HSCR). In a previous study, we mapped a gene for long segment familial HSCR to the proximal long arm of chromosome 10 (10q11.2). Further linkage analyses in familial HSCR have suggested tight linkage of the disease gene to the RET protoncogene mapped to chromosome 10q11.2. Recently, nonsense and missense mutations of RET have been identified in HSCR patients. However, the question of whether mutations of the RET gene account for both long segment and short segment familial HSCR remained unanswered. We have performed genetic linkage analyses in 11 long segment HSCR families and eight short segment HSCR families using microsatellite DNA markers of chromosome 10q. In both anatomical forms, tight pairwise linkage with no recombinant events was observed between the RET proto-oncogene locus and the disease locus (Zmax = 2.16 and Zmax = 5.38 for short segment and long segment HSCR respectively at 0 = 0%) Multipoint linkage analyses performed in the two groups showed that the maximum likelihood estimate was at the RET locus. Moreover, we show that point mutations of the RET proto-oncogene occur either in long segment or in short segment HSCR families and we provide evidence for incomplete penetrance of the disease causing mutation. These data suggest that the two anatomical forms of familial HSCR, which have been separated on the basis of clinical and genetic criteria, may be regarded as the variable clinical expression of mutations at the RET locus.
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PMID:Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. 781 16

Over a 16-year period 34 patients underwent surgery for idiopathic megarectum or megacolon; 18 had megarectum with or without megasigmoid, one megacolon only and 15 megarectum and total megacolon (nine with a previous colectomy). Ten patients underwent low rectal or anal anastomosis without pouch formation (colodistal proctostomy, eight; coloanal anastomosis, two), eight had colonic pouch-anal anastomosis (J pouch) and 14 had an ileal J pouch after restorative proctocolectomy; one underwent subtotal colectomy with ileorectal anastomosis and one loop ileostomy alone. There was one death, from intestinal obstruction 24 months after operation. Twenty-seven of 32 evaluable patients without a stoma became fully continent following resection and sphincter-saving procedures. Three of 18 had a poor result after resection for megarectum because of recurrent constipation. One of 14 patients became incontinent after restorative proctocolectomy for megacolon and megarectum and in a further four persistent abdominal distension and pain was treated by pouch excision.
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PMID:Results of anal or low rectal anastomosis and pouch construction for megarectum and megacolon. 792 62

The enterocolitis following a pull-through in Hirschsprung's disease can be life-threatening and difficult to distinguish clinically from gastroenteritis and post-operative complications. We reviewed retrospectively the abdominal radiographs in our series to identify specific radiographic characteristics of this syndrome in this population. A total of 55 episodes of enterocolitis with an abdominal series at presentation were located in the files of 43 patients following pull-through surgery for Hirschsprung's disease. There were 15 abdominal series with other complications of Hirschsprung's disease and surgery (seven cases of small bowel obstruction, one of fistula, one of abscess, six of severe constipation) and 71 surveillance follow-up studies. Radiographs were evaluated for bowel dilatation, air-fluid levels, intestinal cut-off sign, speculation, and pneumatosis. The intestinal cut-off sign with two or more air-fluid levels had sensitivity of 68% and specificity of 83%, with a positive predictive value of 0.71 and overall accuracy of 77%. Our review of enterocolitis following pull-through in children with Hirschsprung's disease concludes that the constellation of an intestinal cut-off sign and at least two air-fluid levels on the abdominal series strongly suggests the diagnosis.
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PMID:Enterocolitis following endorectal pull-through procedure in children with Hirschsprung's disease. 793 88

We treated 65 children with proven Hirschprung's disease between 1970-1992. After definitive surgery, 35 were over 10 years of age and 13 were over 18. The male:female ratio was 4:1. All but 3 were born full-term. 44% were of Bedouin origin, with a higher prevalence in 3 families of 2 tribes. 38 (58%) were diagnosed in the neonatal period: by barium enema and rectal muscle biopsy in 42 (65%), and by barium enema alone in 23 (35%). In the latter the diagnosis was verified by intra-operative biopsy. Severe constipation, intestinal obstruction or enterocolitis were the presenting features. 19 associated anomalies were found in 12 children, but none was life-threatening; 5 (8%) had cardiac anomalies; none had Down's syndrome. The rectosigmoid colon was the most common aganglionic segment involved (only 1 had total colonic aganglionosis). 7 of the 8 with short segment involvement responded well to posterior rectal myectomy. 55 patients had an abdominoperineal pull-through: 48 by Swenson's procedure and 5 by the Soave and 2 by the Duhamel modifications. In 43 a protective colostomy was performed at the end of the procedure. 53 had complete diversion colostomy at the time of initial diagnosis (neonatal and early infancy). There was no intra- or immediate post-operative death. 1 patient died 2 months after operation of complications following enterocolitis and total parenteral nutrition. 2 died a few hours after admission of severe sepsis due to enterocolitis before operation was possible. There were early postoperative complications in 11% of the 151 operations, mostly minor wound infections.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Hirschprung's disease in the Negev]. 799 80

The association of Hirschsprung's disease (HD) and trisomy 21 has been well recognised. Seventeen (13%) of 135 patients presenting with HD between 1975 and 1992 had trisomy 21. Nine (53%) presented in the neonatal period, with intestinal obstruction (5), enterocolitis (2), or perforation of the colon (2). Eight patients presented after the neonatal period, with constipation. Pathological involvement included rectosigmoid (12), long segment (4), and total colonic aganglionosis (1). Definitive surgery was performed in 14 patients. At the mean follow-up of 8 years (4 to 15 years), only one of the 13 patients has normal bowel function. Eight have persistent soiling, and two have reverted to permanent stomata. There were two deaths in the series; one resulted from enterocolitis complicating HD, and the other from congenital cardiac disease. These data suggest that long-term bowel function in children with HD and trisomy 21 is poor and should be taken into consideration when planning the management.
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PMID:The influence of trisomy 21 on outcome in children with Hirschsprung's disease. 807 20


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