Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0001339 (acute pancreatitis)
 10,593 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Background/aim: The aim of our study was to emphasize the importance of routine bedside biliary ultrasonography (USG) for the differential diagnosis of biliary tract disorders in patients admitted with acute isolated epigastric pain. Materials and methods: Adult patients who were admitted to the emergency department with acute isolated epigastric pain were included in the study. Emergency residents (ERs) were asked whether they planned to perform biliary USG during the initial evaluation and following diagnosis/treatment (secondary evaluation) of these patients. Bedside biliary USG examinations were performed by a sonologist and a radiologist evaluated the video recordings. Results: A total of 103 patients were enrolled, 29 of whom were diagnosed with biliary tract disease (BTD). In the 29 patients diagnosed with BTD, 27 had gallstones (biliary colic, 18; acute cholecystitis, 7; acute pancreatitis, 2) and two had biliary sludge. USG was not ordered by the ERs for 44.8% of the 29 patients with a final diagnosis of BTD, 58.8% of 17 patients with normal liver function tests and BTD, and 35.3% of the 17 hospitalized patients. Conclusion: Emergency physicians should routinely use biliary USG along with clinical judgement and laboratory studies in order to rule out BTD in patients with acute isolated epigastric pain.
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PMID:The importance of routine bedside biliary ultrasonography in the management of patients admitted to the emergency department with isolated acute epigastric pain 2915 53

Low phospholipid-associated cholelithiasis (LPAC) syndrome is characterized by early intrahepatic and symptomatic gallstones leading to cholangitis, acute pancreatitis and biliary colic. It has been associated with loss of function variants in the ABCB4 gene. ABCB4 encodes for a phospholipid translocator at the canalicular membrane of the hepatocyte, which "flops" phosphatidylcholine into bile. The autosomal recessive form is the most common, although autosomal dominant forms have also been described. We report the first family with autosomal dominant LPAC syndrome due to heterozygosity of the loss of function mutation c.2932T>C in ABCB4, identified by targeted next generation sequencing.
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PMID:Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation. 3153 86


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