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)

We report the illness of a 32-year-old male with the syndrome of multiple endocrine neoplasia, type 2b, which comprises medullary carcinoma of the thyroid, phaeochromocytoma, oral mucosal neuromas and skeletal deformity. The patient also had evidence of ganglioneuromatosis of the alimentary tract, a finding which is held to be responsible for constipation and a number of the other gastrointestinal manifestations of the MEN, 2b. Dysphagia, which has not been previously reported in the syndrome was also present. Investigations of the oesophagus which included endoscopy, radiology and a motility study support the diagnosis of achalasia as the cause of the dysphagia.
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PMID:Colonic and oesophageal disturbance in a patient with multiple endocrine neoplasia, type 2b. 3 47

Electromanometric studies were performed in a serie of 149 chronically constipated children. One third of the cases showed manometrically an organic and spincter achalasia. In the other two thirds the constipation was functional or psychogenic. In 73 patients a sphincter myotomy was performed. In 50 of these cases the histology of the internal anal sphincter taken by biopsy revealed a close relationship to the electromanometric results. Patients electromanometrically diagnosed at having an organic cause of the achalasia showed histologically in all except one, severe chronic inflammation, fibrosis, hyperplasia of the smooth muscle, or an absence of the ganglion cells in the upper part of the sphincter muscle. In 17 cases with a functional or psychogenic cause only one showed histopathologic findings. Of the 73 patients who were operated upon, 66 had excellent results. In 7 cases encopresis and constipation persisted. The reasons for this are discussed. Pre- and postoperative electromanometric measurements were performed in 30 children, postoperative measurements alone in 59 others. The most important electromanometrically criteria in evaluating the results of the sphincteromyotomy are normalisation of the anorectal pressure profile and the return of regular anorectal fluctuations. Signs of incontinence could not be observed.
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PMID:[Results of spincteromyotomy in anal-spincter achalasia. Histology and postoperative continence]. 127 63

This report describes paraneoplastic visceral neuropathy including achalasia, gastroparesis, subileus and constipation in a 59 year old patient with metastasising atypical bronchial carcinoid. Achalasia was successfully treated by cardiomyotomy and fundoplication; additionally, extramucosal pylorectomy was undertaken to improve gastric emptying. Endoscopic papillotomy was necessary because of a functional stenosis of the sphincter of Oddi with development of obstructive jaundice. Symptoms of intestinal pseudoobstruction did not improve with cisapride or corticosteroid treatment. Histological examination of gastrointestinal specimens revealed a lymphocytic infiltration of the myenteric plexus associated with loss of neurones. The rheumatoid factor was positive, there was evidence of circulating immune complexes and antibodies to Sm-antigen were present, suggesting a possible autoimmune pathogenesis.
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PMID:Paraneoplastic chronic intestinal pseudoobstruction as a rare complication of bronchial carcinoid. 164 19

Nervous control of gastrointestinal motility is extremely complex, is regulated by the enteric system, the "brain of the gut", and modulated by extrinsic nerves. This system with its multiplicity of transmitters and receptors does not always allow a clear interpretation of experimental data, especially with compounds lacking specificity. In this review the complex situation is described particularly in relation to receptor populations (cholinergic, adrenergic, dopamine, histamine, 5-hydroxytryptamine, opioid, gamma-aminobutyric acid (GABA), prostanoid and dihydropyridine receptors), therapeutic aspects of drugs and their usefulness in children. Newer principles with known drugs and promising new compounds with a more appropriate kinetic or fewer side-effects, deriving from distinct pharmacological groups, as candidates for the treatment of gastrointestinal disorders are considered e.g. anticholinergics (prifinium or actilonium bromide), adrenergic alpha 2-agonists (clonidine, lidamidine) for diarrhoea in diabetic neuropathy, adrenergic beta-blockers for shortening postoperative ileus (propranolol), dopamine receptor antagonists (metoclopramide, domperidone, alizapride) and another prokinetic substance (cisapride) which may be useful for a number of applications as gastro-oesophageal reflux, gastro-paresis, intestinal pseudo-obstruction, cystic fibrosis and constipation, morphine derivatives (e.g. loperamide) for intractable diarrhoea and calcium antagonists (e.g. nifedipine) for achalasia. Increasing experience in digestive tract pharmacology and reliable clinical studies will furthermore be the basis for a more specific and better tolerated therapy of gastrointestinal motility disorders in adults and children.
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PMID:Rational pharmacotherapy of gastrointestinal motility disorders. 266 4

A 16-year-old girl with a history of achalasia of the lower esophagus was investigated for progressive constipation since the age of five years. Normal ganglion cells of the Meissner's plexus were found in a mucosal rectal biopsy. Manometric studies showed absence of the normal rectosphincteric relaxation reflex. A long posterior rectal myectomy was performed in which no ganglion cells were found between the muscular layers. The patient underwent a rectosigmoid resection with a low anastomosis according to Duhamel. In the resected bowel, a normal Meissner's plexus was again found while marked hypoganglionosis of the myenteric plexus was evident. Intranuclear inclusion bodies in Schwann cells and scattered inflammatory cells were noteworthy. This case may be an example of an acquired hypoganglionosis localized to the myenteric plexus.
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PMID:Hypoganglionosis of the myenteric plexus with normal Meissner's plexus: a new variant of colonic ganglion cell disorders. 397 19

The disturbance of defecation in the patient with Hirschsprung's disease and the pathophysiology of constipation in the constipated patient with simple megarectum were investigated. In Hirschsprung's disease, an existence of aganglionosis and the sphincter achalasia are two main factors which cause clinical symptoms such as chronic constipation and megacolon. As a surgical treatment, we have routinely performed our modified Duhamel's operation. Postoperative followup study indicated that the most cases in our series have gained a satisfactory defecatory function 1 to 3 years after operation. In chronically constipated patient with simple megarectum, on the other hand, it was found manometrically that the most of them had significantly high anal canal pressure and incomplete anal relaxation after rectal stimulation. These findings indicate that those patients have hypertonic and achalasic sphincter. Therefore, the authors propose "high anal pressure syndrome (HAPS)" for such constipated patient with simple megarectum. As to the surgical treatment, 6 patients with simple megarectum had a complete posterior internal sphincterotomy and the postoperative results were excellent or good in our series.
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PMID:[Pathophysiology of defecatory disturbance in the patient with Hirschsprung's disease and chronically constipated patients with simple megarectum]. 408 53

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 careful history can localize gastrointestinal motility disorders and suggest appropriate diagnostic tests. Dysphagia, odynophagia, heartburn and reflux have esophageal origins. The same symptoms occur in achalasia, a classic motor disorder of the lower esophageal sphincter, which can be diagnosed by barium swallow, endoscopy and esophageal motility studies. Nausea, vomiting, anorexia, bloating and abdominal pain are symptoms of motor disorders of the stomach and small intestine. When these symptoms are accompanied by unexplained right upper quadrant pain, elevated liver enzyme levels and unexplained recurrent pancreatitis, the diagnosis of impaired biliary motility is suggested. Colorectal motility disorders may present as abdominal pain, diarrhea, constipation and/or fecal incontinence. If symptoms do not resolve with dietary changes and appropriate medications and the anatomy is normal on lower gastrointestinal studies, colorectal motility studies may be indicated.
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PMID:Gastrointestinal motility disorders. 859 65

We report a case of oesophageal disease as the first manifestation in a patient with CREST syndrome. A 46-year-old man with achalasia-like syndrome developed CREST syndrome 4 years later. A pneumatic dilatation of the cardia was performed. After pneumatic dilatation the dysphagia and regurgitation disappeared but the patient developed reflux oesophagitis. Four years after diagnosis of oesophageal disease he presented with a clinical picture of CREST syndrome. An acute ileus and constipation developed later. After receiving medical therapy with omeprazole and cisapride the patient is free of oesophageal symptoms and bowel movements are normal. Oesophageal disease is common in patients with limited and diffuse scleroderma, but to our knowledge achalasia-like syndrome has not been previously described as the first manifestation of the systemic disease.
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PMID:Achalasia-like syndrome as the first manifestation in a patient with CREST syndrome. 872 33

A physiological sphincter exists at the rectosigmoid junction; this rectosigmoid sphincter (RSS) relaxes on sigmoid colon contraction and contracts on rectal contraction. Eight cases of RSS hypertonia are presented herein. Six women and two men (mean age, 44.2 +/- 10.3 years) complained of chronic constipation of 9.6 +/- 6.2 years' duration. They had had normal bowel habits before that time. Anorectal physiologic studies were performed. Intestinal transit was delayed by the accumulation of pellets in the sigmoid colon. Defecography and electromyography of the external anal sphincter and levator ani muscle were normal. The resting pressure was normal in the sigmoid colon, rectum, and rectal neck (p > 0.05) but elevated in the RSS (p < 0.01). The sigmoidorectal inhibitory and excitatory reflexes were absent. Biopsies from the sigmoid colon and rectum showed normal histologic findings, but those from the RSS were aganglionic. A diagnosis of RSS "achalasia" was made. Five of the eight patients had improvement as a result of RSS dilatation. The remaining three patients underwent sigmoidomyotomy. The eight patients are now 9 to 38 months without recurrence of constipation. Rectosigmoid junction achalasia constitutes a clinicopathologic entity that should be considered in the etiology of constipation.
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PMID:The hypertonic rectosigmoid junction: description of a new clinicopathologic entity causing constipation. 910 39


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