Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The functional activity of the sphincter of Oddi complex has been examined by ceruletide manometry in patients undergoing cholecystectomy with a normal peroperative cholangiogram. In Group I (n = 14), which included patients with previous acute cholecystitis/biliary colic, the sphincter activity appeared to be normal and responded to intravenous ceruletide by a marked relaxation with a significant fall in both the infusion and postinfusion pressures. In patients undergoing cholecystectomy for gallstone-associated pancreatitis (n = 8), the sphincter exhibited manometric features of hypotonia with low infusion and postinfusion pressures which were not significantly altered by intravenous ceruletide.
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PMID:Evidence for sphincter dysfunction in patients with gallstone associated pancreatitis: effect of ceruletide in patients undergoing cholecystectomy for gallbladder disease and gallstone associated pancreatitis. 649 60

A control group of 53 patients with selective vagotomy plus pyloroplasty was studied with pre- and postoperative cholecystography. At the fourth to seventh years the size and motility of the gallbladders were the same. Gallstones developed in two patients. A series of 91 patients with total vagotomy plus pyloroplasty was studied by similar methods. In 46 patients the gallbladders were grossly dilated and in 30 of the 46 the gallbladders were noncontractile. Gallstones developed in nine of the 46 patients. In the other 45 patients hypotonic dysfunction of the gallbladder was insignificant, and stones developed in only 1 of them. Explanation of these variable results is thwarted by unknown variations in the degree of both hypotonic dysfunction of the gallbladder and lithogenic change in the bile of patients with complete hepatic and complete celiac vagotomy after total vagotomy, and also by the unknown occurrence of incomplete hepatic and incomplete celiac vagotomy in series of allegedly complete total vagotomy. It is concluded that total vagotomy increases the incidence of gallstones, and that this increase occurs primarily in patients with significant hypotonia of the gallbladder. Selective vagotomy prevents these sequelae.
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PMID:Gallstones after vagotomy. 745 26

The clinical and radiological picture observed in a female patient with cholelithiasis urgently hospitalised for abdominal occlusion is described. Radiological examination of the digestive tract disclosed a bilio apico-bulbar fistula and ectasis and hypotonia of the jejuno-ileal loops. A large calculus composed of calcium salts and cholesterine buried in a sigmoid loop was spontaneously passed by the patient during the examination. This resulted in regression of the symptoms of pain and occlusion. Cholangiocholecystography and examination of the digestive tract 3 months later showed a normal gallbladder picture, and disappearance of the fistula.
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PMID:[Unusual case of biliary ileus]. 746 6

Clinical and laboratory findings of Zellweger syndrome (ZS) patients diagnosed at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia over a period of 10 years are presented in this report. Eleven patients (nine females and two males) from 2 to 4 months old were referred to KFSH & RC for evaluation of hypotonia, seizures, and dysmorphic features. The common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia, hyporeflexia, pigmentary retinopathy, optic nerve atrophy, complete or partial agenesis of corpus callusum, and failure to thrive. We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency. Some unique clinical findings were the presence of gallstones, club feet, or bilateral knee or hip dislocation in some patients. All patients had markedly elevated plasma levels of very long chain fatty acids (VLCFA). Electron microscopy performed on liver biopsies of two patients revealed absence of peroxisomes. Biochemical studies of dermal fibroblasts from three patients showed deficient beta-oxidation of lignoceric acid and dihydroxyacetone phosphate acyltransferase (DHAPATase) activity. The tribal living in Saudi Arabia and our observation that 10 of the 11 parents in this study were first-degree relatives and, except for families 1 and 3, each family had at least another baby who died of the same disease. This suggests that the incidence of ZS in Saudi Arabia may actually be higher than our experience at KFSH & RC.
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PMID:Zellweger syndrome in Saudi Arabia and its distinct features. 1004 40

Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal period. She had subtle dysmorphic features. Liver function tests were impaired with raised liver enzymes, conjugated and unconjugated hyperbilirubinemia. CT of the brain showed diffuse bilateral changes. She developed seizures with an abnormal EEG. Plasma very long chain fatty acid analysis showed high C26:0 levels and increasedC26:0/C22:0 and C24:0/C22:0 ratios, which is consistent with a PBD. Studies in fibroblasts including plasmalogen biosynthesis, peroxisomal fatty acid alfa and beta oxidation confirmed the diagnosis of PBD. Immunofluoresence microscopy revealed the absence of peroxisomes in fibroblasts. The patient was assigned to the PEX19 complementation group. Subsequent mutation analysis of the PEX19 gene revealed homozygosity for a c.320delA frameshift mutation. The patient had a stormy course with multiple admissions to the pediatric intensive care unit with pneumonia, liver impairment, sepsis, and epilepsy. At 1 year of age she developed metabolic acidosis with normal anion gap, proteinuria, aminoaciduria, and glucosuria consistent with a renal tubular defect. Abdominal ultrasound showed multiple gallstones. Other causes of gallstones like haemoglobinopathy were excluded. So far, only two siblings had been reported with mutations in the PEX19 gene. Our patient showed a previously unrecognized association of gallstones and a renal tubular defect with a PBD.
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PMID:A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. 2068 89