Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report reviews 110 children of ages ranging from 2 months to 17 years, with a diagnosis of cystic fibrosis, and analyzes the surgical treatments they have undergone. In our series, meconium ileus shows an higher occurrence (20%) than the reported by the literature. No direct relationship could be established between the existence of meconium ileus and a more severe affectation of cystic fibrosis. Rectal prolapse occurred in 10% of the patients, and only 4% underwent surgical treatment. Three children with appendicitis developed a periappendiceal abscess due to delayed diagnosis and 2 other were operated upon for meconium ileus equivalent. From 7 patients with gastroesophageal reflux, 5 were treated non-operatively and 2 required corrective surgery. Fifty five patients out of the 110 (45%) underwent different surgical procedures.
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PMID:[Incidence and management of surgical pathology in children with cystic fibrosis of the pancreas]. 248 73

Although laparoscopy has been available since the turn of the century, the technique did not become widely accepted for gastrointestinal surgery until it was used in cholecystectomy. Since then, various gastrointestinal operations have been performed using laparoscopic guidance. Laparoscopic operations must conform to principles for open general surgery, especially in cases of oncologic resection. Procedures for treatment of conditions such as hiatal hernia, gastroesophageal reflux, intractable peptic ulcer disease, bypass for malignant pancreatic obstruction and repair of rectal prolapse have received immediate acceptance. Other procedures, such as Whipple's operation and colectomy for cancer, have met with a more guarded response.
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PMID:New applications of laparoscopy in gastrointestinal surgery. 854 50

Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces. Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest the diagnosis in infants and young children. The protean gastrointestinal manifestations of CF result primarily from abnormally viscous luminal secretions within hollow viscera and the ducts of solid organs. Bowel obstruction may be present at birth due to meconium ileus or meconium plug syndrome. Complications of meconium ileus include volvulus, small bowel atresia, perforation, and meconium peritonitis with abdominal calcifications. Older children with CF may present with bowel obstruction due to distal intestinal obstruction syndrome or colonic stricture, and tenacious intestinal residue may serve as a lead point for intussusception or cause recurrent rectal prolapse. Radiologic studies often demonstrate thickened intestinal mucosal folds in older children and uncommonly show colonic pneumatosis, peptic esophageal stricture due to gastroesophageal reflux, and duodenal ulcer. Appendicitis due to inspissated secretions is uncommon. Obstruction of ducts and ductules produces exocrine pancreatic insufficiency, pancreatitis, cholestasis, cholelithiasis, and cirrhosis with portal hypertension. On imaging studies, the pancreas is commonly small and largely replaced by fat, sometimes displays calcifications, and is rarely replaced by macrocysts. Radiologic features of hepatobiliary disease include an enlarged radiolucent liver from steatosis, gallstones, a shrunken nodular liver, splenomegaly, and portosystemic collateral vessels. With the improved survival of CF patients, an increased risk for developing gastrointestinal carcinomas has been established, many occurring as early as the 3rd decade.
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PMID:Gastrointestinal manifestations of cystic fibrosis: radiologic-pathologic correlation. 883 77

The clinical histories of 46 adult patients (24 men and 22 women, mean age 20.6 +/- 5.1 years) diagnosed of cystic fibrosis were reviewed evaluating the digestive alterations. The age at diagnosis of cystic fibrosis was 5.63 +/- 5.3 years (range: newborns-19 years). The initial diagnosis was established by ileus meconium, in four, lung disease in 15, steatorrhea in 12, lung disease and steatorrhea in 13 and following the diagnosis of cystic fibrosis in siblings in two. Four patients presented ileus meconium, nine occlusive syndrome of the distal intestine, 42 steatorrhea (20 severe, 12 moderate and 10 mild), with the severity of the steatorrhea not being associated with the severity of the respiratory insufficiency. Two patients presents rectal prolapse, five gastroesophageal reflux syndrome (four with hiatal hernia), six cholelithiasis, one recurrent pancreatitis without detection of biliary lithiasis, one neonatal cholestasis and 10 malnutrition (five severe and five moderate) fundamentally in relation to the severity of the lung disease and, to a lesser degree, liver disease. In 10 patients chronic liver disease was diagnosed corresponding to established cirrhosis in seven, indicating liver transplantation in two. In most cases, the liver disease was already manifest in adolescence even in the cirrhotic stage. Cholangiography by magnetic resonance was useful in the study of liver disease showing abnormalities which imitated primary sclerosing cholangitis. Treatment with ursodesoxicholic acid at a dosis of 20 mg/kg/day led to a significant decrease in the transaminase values and overall of gammaglutamyltranspeptidase but did not avoid complications in the cirrhotic stages. Genetic studies performed in 36 patients detected the delta F508 mutation in 69.4%, being found in almost all of the patients with ileus meconium, occlusive syndrome of the distal intestine, liver disease, cholelithiasis and malnutrition.
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PMID:[Digestive alterations in cystic fibrosis. Retrospective study of a series of 46 adult patients]. 1019 90

Digestive disturbances are frequent in adults with cystic fibrosis. They can lead to malnutrition which in turn is deleterious to the prognosis. We summarise the information on epidemiology, pathogenicity, signs, diagnostic criteria and treatments of exocrine pancreatic insufficiency, gastro-oesophageal reflux and denutrition (which are all frequent) but also of constipation, rectal prolapse, distal intestinal obstruction syndrome, and liver diseases. The main recommendations are the following: 1--know how to treat pancreatic insufficiency with enzyme replacement and vitamins; 2--know how to treat aggressively any gastro-esophageal reflux; 3--diagnose and treat denutrition as early as possible; 4--know the distal intestinal obstruction syndrome to avoid abusive and dangerous surgery; 5--know that the most severe hepatic diseases can be treated by liver transplantation.
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PMID:[Digestive and nutritional management of adults with cystic fibrosis]. 1107 88

Digestive involvement in systemic sclerosis is frequent and serious, because it provides morbidity and fatality. From the pathophysiologic point of view, the first step could be Raynaud-associated neural dysfunction, followed by smooth muscle atrophy then irreversible muscle fibrosis. Oesophageal disorder is common with its main consequence: the occurrence of gastroesophageal reflux disease which could run into peptic erosive oesophagitis. Oesophageal manometry is the main diagnostic tool, gastrointestinal endoscopy helps to assess oesophageal mucosal inflammation and its possible sequels. Gastric involvement is rarely recognized but it is frequent in case of systematic investigation as well as small intestinal involvement which may provide a lot of complications: malabsorption, pseudoobstruction, bacterial overgrowth. At colonic level, anorectal involvement is frequent and leads to fecal incontinence and rectal prolapse. Reynold's syndrome is a special case which associates systemic sclerosis with primary biliary cirrhosis. The symptomatic treatments must be systematic and improve the disease's overall prognosis.
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PMID:[Digestive involvement of scleroderma]. 1253 66

Robotic technology has recently been introduced to gastrointestinal laparoscopic surgery. We prospectively evaluated early results of robotic surgery using the Da Vinci system in our department. Data were prospectively collected in 40 patients who underwent robotic surgery during a 1-year period. We performed 3 cholecystectomies, 10 anterior fundoplications for gastroesophageal reflux disease, 17 transperitoneal adrenalectomies, 2 Heller myotomies, 5 procedures for rectal prolapse, and 3 colpohysteropexies for genital prolapse. The results for robotic adrenalectomies and anterior fundoplications were compared with the results from patients who underwent these procedures laparoscopically without robotic assistance at our department during the same period. We encountered two conversions to laparotomy (5%) and one conversion to standard laparoscopy (2.5%). There was no morbidity imputable to the robotic approach and no deaths. The mean operative times were significantly longer in robotic groups compared with laparoscopic groups for adrenalectomies and fundoplications. The Da Vinci robotic system enables surgeons to perform advanced laparoscopic procedures with ease, safety, and precision. We believe that preferable indications for using this system are to perform surgery in narrow spaces (pelvic surgery) or when precise dissection is mandatory (Heller myotomy).
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PMID:Early results of one-year robotic surgery using the Da Vinci system to perform advanced laparoscopic procedures. 1535 34

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