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)

Anal internal sphincter achalasia is a rare cause of refractory constipation. It is usually treated by internal sphincter myectomy (ISM). The aim of this study was to evaluate the long-term outcome of patients who had undergone ISM for internal sphincter achalasia. Bowel habits, fecal continence, and quality of life were evaluated using a questionnaire. Fecal continence was quantitatively assessed by a score described by Holschneider. A questionnaire was sent to 13 patients (11 male, two female) operated on by ISM for intractable constipation caused by internal sphincter achalasia between 1983 and 1993. Ten patients responded and were included in the study. At the time of the study, three of the 10 patients required oral medication for constipation and had one to three bowel movements per week. One of the 10 patients had three to five bowel movements per day, and the others had one to two bowel movements per day. Four patients had normal and six patients had good continence scores. Four of the patients reported mild social problems, and one had problems associated with sports. Refractory constipation in the majority of patients with internal sphincter achalasia can be treated by ISM. However, in the long term, a significant number of patients suffer from soiling-related social problems.
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PMID:Long-term outcome after internal sphincter myectomy for internal sphincter achalasia. 1561 17

Interstitial cells of Cajal (ICCs) have, in the past 2 decades, been recognised as important elements in the regulation of gastrointestinal motility. Specifically, they have been shown to be critical for the generation and propagation of electrical slow waves that regulate the phasic contractile activity of gastrointestinal smooth muscle, and for mediating neurotransmission from enteric motor neurons to smooth muscle cells. These different functional roles are carried out by different phenotypic classes of ICC that have discrete distributions within the tunica muscularis. Identifying the functional roles of ICC within the gut has been facilitated by studying mutant mice deficient in ICC, either as a consequence of loss of the tyrosine kinase receptor, Kit, or its ligand, stem cell factor, both of which are necessary for normal ICC development. In humans, under certain pathophysiological conditions, loss or defects in ICC networks appear to play a role in the generation of certain motility disorders. Alterations in ICC distribution have been reported in conditions such as achalasia, chronic intestinal pseudoobstruction, Hirschsprung disease, inflammatory bowel diseases, and slow transit constipation. Molecular and genetic techniques are helping researchers to determine whether defects in ICC networks are the cause of motility disorders, or whether the disrupted ICC networks are a consequence of gut dysfunction.
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PMID:Disorders of interstitial cells of Cajal. 1818 68

The term "gastrointestinal neuromuscular disease" can be interpreted variably and encompasses a spectrum of paediatric and adult conditions including achalasia, pseudoobstruction, idiopathic constipation, irritable bowel syndrome, megacolon, and Hirschsprung disease. Although progress has been made in the understanding of the pathophysiology of some conditions, the aetiopathogenesis has been elucidated only in the rare minority. This review critically considers the available evidence for possible pathogenic mechanisms in these disorders.
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PMID:New horizons in the pathogenesis of gastrointestinal neuromuscular disease. 1818 77

Alterations of normal function of interstitial cells of Cajal (ICC) are reported in many intestinal disorders. Diagnosis of their involvement is rare (infrequent), but necessary to propose a specific treatment. This article reviews the place of ICC in the pathogenesis of achalasia, gastroesophageal reflux disease, infantile hypertrophic pyloric stenosis, chronic intestinal pseudo-obstruction and slow transit constipation. Moreover we discuss the role of the Cajal cells in the development of stromal tumors of the gastrointestinal tract.
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PMID:Interstitial cells of Cajal in the gut--a gastroenterologist's point of view. 1900 40

Botulinum toxin (BoNT) has been used for over a quarter of century for the treatment of well over 100 different indications. Many of the symptoms for which BoNT has been found to be effective occur in a variety of neurological disorders. One neurodegenerative disorder in which BoNT has been used extensively to treat various symptoms is Parkinson's disease (PD). This review will highlight the following therapeutic applications of BoNT in conditions associated with PD: limb dystonia, blepharospasm and lid apraxia, bruxism, cervical dystonia (anterocollis), camptocormia, hand and jaw tremor, rigidity (painful shoulder), freezing of gait, sialorrhea, dysphagia (achalasia), seborrhea, hyperhidrosis, overactive bladder, and constipation.
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PMID:Disease-oriented approach to botulinum toxin use. 1907 3

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46

The authors perform a retrospective study with a 4 years follow up of 46 patients operated of Hirschsprung's disease (HD). In 36 cases by with staplers Rehbein technique (TR) and in 10 others with De la Torre endorectal pull-through (TEPT). In all them diagnosis was achieved by mean of radiology, manometry, and hystochemical procedures. During the surgical procedure was performed in all cases biopsies to confirm the neuronal integrity of the colon descended. In the TR group, 16.6% of patients presented rectal achalasia with constipation due to 3 cms. aganglionic rectum remnant, while in the TEPT group this circumstance are not presented because all aganglionic rectum was eliminated. Otherwise TEPT technique permits an earlier application, diminuend the hospitalization time,shortening the start of feeding and with a good cosmetic result. None of this patients presented infection, stenosis, bleeding or incontinence.
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PMID:[Rehbein's procedure versus De la Torre in Hirschsprung's disease]. 1932 82

We review the current clinical evaluation and management of the most common esophageal and gastrointestinal motility disorders in children based on the literature and our experience in a pediatric motility center in the United States. The disorders discussed include esophageal achalasia, pre- and post-fundoplication motility disorders, gastroparesis, motility disorders occurring after repair of congenital atresias, motility disorders associated with gastroschisis, chronic intestinal pseudo-obstruction, motility after intestinal transplantation, motility disorders after colonic resection for Hirschsprung's disease, chronic functional constipation, and motility disorders associated with imperforate anus.
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PMID:Clinical management of motility disorders in children. 1978 4

Pediatric gastrointestinal motility disorders are common and can range from relatively benign conditions such as functional constipation to more serious disorders such as achalasia, Hirschsprung disease, and intestinal pseudoobstruction. Performing and interpreting motility evaluations in children presents unique challenges and is complicated by a dearth of control information, underlying gastrointestinal developmental maturation, technical challenges (eg, catheter size limitations), and patient cooperation. Primary diseases such as congenital pseudoobstruction or Hirschsprung disease occur more often in children, but as with adults, abnormal motility may be secondary to other processes. Diagnostic studies include radiographic studies, manometry, breath testing, myoelectrical testing, and histologic evaluation. Although recent advances in technology, genetics, and biology are making an important impact and have allowed for a better understanding of the pathophysiology and therapy of gastrointestinal motility disorders in children, further research and new therapeutic agents are needed.
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PMID:Pediatric gastrointestinal motility disorders: challenges and a clinical update. 2190 91

Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation.
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PMID:Recurrent achalasia in a child with Williams-Beuren syndrome. 2205 84


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