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)

The indication for the non-resecting combination method arises if the presence of genuine ulcer disease is confirmed by complete diagnostic measures (history, roentgenologic examination, endoscopy, secretion analysis and possibly psychic testing). An extended indication exists for erosive gastritis with hypersecretion, for hiatal hernia with reflux esophagitis (Berman's syndrome), for cardiospasm and prophylaxis of hemorrhage. The technique yields permanent curative results if a complete selective proximal vagotomy is combined with a pyloroplasty suitable in form and function. This is also true for duodenal ulcer. In 22% of cases of gastric ulcer, selective vagotomy with antrectomy is necessary.
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PMID:[Non-resecting surgery for gastroduodenal ulcer. II. Indication and technique (author's transl)]. 81 5

During the last 12 years, 1489 vagotomies were performed at the Chirurgische Poliklinik of Munich University; 1339 of them were selective proximal vagotomies (SPV). The main indication was duodenal ulcer (n = 915) and gastric ulcer (n = 188), including emergency operations for extensive bleeding. Further indications were: sliding hiatal hernia, erosive gastritis and achalasia of the cardia. The SPA was combined in all cases with a pyloroplasty based on form and function. The results are shown in detail related to mortality (elective 0.5%), recurrency (1.6%) and functional results (good 88.2%, fair 7.2%, poor 4.6%). The combined operation of SPV with pyloroplasty is, in our opinion, an operative procedure which allows non resectioning surgical treatment of GDU without selection, i.e. based on form and function.
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PMID:[Non-resecting surgery for gastroduodenal ulcer. III. Clinical results (author's transl)]. 81 6

The safety, effectiveness and capabilities of therapeutic upper fibreoptic endoscopy in children undergoing therapeutic endoscopic procedures (n = 443) was studied. Therapy for gastrointestinal bleeding formed the major group (injection sclerotherapy for varices, n = 197 procedures; thermocoagulation for haemorrhagic gastritis, n = 1; and photocoagulation for Dieulafoy's disease, n = 1). Sclerotherapy was 97% effective in controlling acute bleeding and 84% effective in obliterating varices with no serious complications or deaths. Oesophageal dilatations for surgical, caustic, congenital and peptic strictures and achalasia (n = 193) were performed with no oesophageal perforations or deaths. Foreign bodies were retrieved (n = 34) with no failures or complications. Percutaneous endoscopic gastrostomy was performed (n = 11) with one failure, proceeding to an unsuccessful surgical gastrostomy. Miscellaneous procedures included endoscopic transpyloric tube placement (n = 5) and endoscopic diathermy of pyloric web (n = 1). Therapeutic fibreoptic endoscopy is therefore concluded to be safe and effective in children, replacing rigid oesophagoscopy and some traditional surgical approaches.
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PMID:Therapeutic upper gastrointestinal endoscopy in children: an audit of 443 procedures and literature review. 843 62

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