Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A double balloon technique was used for anal tonometry in 22 infants. The weight was less than 2,500 g in 10 of the infants. Ileus or delayed passage of meconium was seen in 9 infants. Thirteen infants had not revealed any symptoms of intestinal obstruction during the first week of life. In all cases, except one, it was possible to demonstrate reflexes from the internal anal sphincter. In 18 infants normal curves were registered from the internal anal sphincter. None of these developed Hirschsprung's disease. In 3 infants a pathological pattern of contractions of the internal anal sphincter was demonstrated. Two of them proved to have Hirschsprung's disease. In the third case normal reflexes were registered after one year. Possibly the innervation of rectum and the internal anal sphincter was disrupted during the neonatal period in connection with enterocolitis and ileus, thus representing a reversible case of achalasia.
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PMID:Anal tonometry in the neonatal period for the diagnosis of Hirschsprung's disease. 202 88

The basic pathophysiologic disturbance in Hirschsprung's disease is a functional obstruction caused by defective intramural nerve supply and by internal anal sphincter achalasia. Therapy consists in resecting the dysganglionic bowel segment. In each case however an aganglionic segment of different length and an internal analsphincter with a different degree of achalasia remain in situ. Therefore the postoperative results are dependant on an equilibrium between the proximal normal innervated colon and the length and function of the remaining aganglionic and achalic parts of the rectum and anal canal. In about one third of all patients with Hirschsprung's disease disturbances of this equilibrium postoperatively lead to enterocolitis, encopresis, or chronic constipation. Five years later however the authors could observe enterocolitis in only 7.3% chronic constipation in 9.5% and encopresis in 13.9% of their operated patients. With increasing time after operation there is a growing tendency towards the spontaneous regeneration. Therefore, the prognosis of Hirschsprung's disease is very good: about 90% of all cases can be cured.
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PMID:[Late study results following megacolon operations]. 674 49

For the management of persistent rectal achalasia after the Soave endorectal pull-through procedure, we have used posterior sagittal myectomy of the remaining aganglionic rectal muscular cuff, and have had satisfactory outcomes in five patients. Via a posterior sagittal skin incision, the posterior aspect of the rectal muscular cuff is reached. With the striated muscular complex retracted downward, the level of the dentate line is identified on the posterior wall of the rectum with the aid of the surgeon's finger inserted inside the anorectum. Two parallel longitudinal incisions are made on the rectal muscular cuff to create a muscular strip which is elevated and excised; the distal end of the myectomy strip is at the level of the dentate line and includes a part of the internal and sphincter muscle. During the last 4 years, we performed this procedure in 5 patients with remarkable relief of constipation, distension, and enterocolitis. The advantages of this procedure include: (1) less technical difficulty than the transanal approach, (2) avoiding colostomy, and (3) promising results.
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PMID:Posterior sagittal rectal myectomy for persistent rectal achalasia after the Soave procedure for Hirschsprung's disease. 830 92

A retrospective follow-up study of all children treated for Hirschsprung's disease over the last 45 years at the Department of Pediatric Surgery, Children's Hospital, Bremen was done to evaluate the results of Rehbein's procedure. A total of 416 children underwent Rehbein's lower anterior resection. The postoperative outcome was analysed in detail for early and late complications like wound infection, pelvic abscess, anastomotic stenosis, anastomotic insufficiency, postoperative enterocolitis, persistence of constipation, fecal and urinary incontinence, recurrent achalasia, need for reoperation, adhesion ileus and mortality. On the basis of the data analysed and review of literature it was concluded that Rehbein's procedure is a well-established method in the treatment of Hirschsprung's disease with excellent results and few complications.
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PMID:Rehbein's procedure for Hirschsprung's disease. An appraisal of 45 years. 1066 49

Traditionally Hirschsprung's disease has been treated by 2- or 3-stage procedures. During the past 6 years a 1-stage Duhamel procedure without stoma has become our treatment of choice for Hirschsprung's disease in neonates and young infants. Over a 6-year period, 15 infants and children with colonic Hirschsprung's disease were treated with the 1-stage Duhamel retro-rectal pull-through procedure without a stoma, with the Lester-Martin modification. All patients had the usual short segment aganglionosis, but 1 had a long segment which included the splenic flexure. Early complications included wound infection in 1 and minor rectal bleeding in 3. Late complications included constipation in 1 and enterocolitis in 4. Long-term functional results were very good in all those operated except for 1 with rectal achalasia. We conclude that Hirschsprung's disease can be successfully treated with a 1-stage pull-through operation, the child usually benefitting from the shorter hospital stay and the avoidance of a colostomy.
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PMID:[One-stage surgery for Hirschsprung's disease in children]. 1241 66

Hirschsprung's disease (HSCR) is the most common congenital malformation of the enteric nervous system and requires early diagnosis and surgical repair for the best comprehensive outcome. The early diagnosis of this disorder permits the use of primary endorectal pull-through (PERPT), which is now the definitive surgical therapy for HSCR. PERPT has become the preferred method of treatment for HSCR, and large numbers of successfully treated patients have been described in the recent medical literature. The rate of postoperative complications is generally similar to that following a two-stage surgical repair, but PERPT patients may be at a slightly higher risk for Hirschsprung's-associated enterocolitis. Despite recent surgical advances in the treatment of HSCR, a two-stage surgical repair involving a temporary diverting colostomy may still be necessary in up to one third of patients. Candidates for a staged repair include those HSCR patients with long-segment or total colonic disease or when there has been a delay in diagnosis that results in a markedly dilated proximal colon or patient clinical instability. Internal anal sphincter hypertonicity, occurring either as isolated primary anal achalasia or as a postoperative complication, can be successfully managed by either botulinum toxin injections or anal myectomy. The measurement of colonic motility in surgically repaired patients with a long-standing postoperative abnormality of bowel function can identify several distinct motility disorders that are amenable to separate and individualized therapies. The single most important element in the management of HSCR remains the clinical judgement of the surgeon of record, who utilizes all discernible clinical data to elect the manner of surgical repair in a given patient.
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PMID:Hirschsprung's Disease. 1274 24

Although most children with Hirschsprung disease ultimately do well, many experience a variety of ongoing problems after pull-through surgery. The most common include obstructive symptoms, soiling, enterocolitis and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative obstructive symptoms in children with Hirschsprung disease. The American Pediatric Surgical Association Board of Governors established a Hirschsprung Disease Interest Group. Group discussions, literature review and expert consensus were then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with obstructive symptoms following pull-through for Hirschsprung disease. Causes of obstructive symptoms post-pull-through include mechanical obstruction; persistent or acquired aganglionosis, hypoganglionosis, or transition zone pull-through; internal sphincter achalasia; disordered motility in the proximal intestine that contains ganglion cells; or functional megacolon caused by stool-holding behavior. An algorithm for the diagnosis and management of obstructive symptoms after a pull-through for Hirschsprung disease is presented. A stepwise, logical approach to the diagnosis and management of patients experiencing obstructive symptoms following pull-through for Hirschsprung disease can facilitate treatment. Level of evidence V.
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PMID:Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. 2818 Sep 37