Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Echocardiographic M-mode examinations were performed in 30 infants of diabetic mothers (IDM). Twelve of them had severe symptoms with hyperbilirubinemia, respiratory distress syndrome, septicemia and hypoglycemia in the neonatal period. The gestational age ranged from the 34th week to the 40th week, the birth weight ranging between 2280 g and 5820 g (mean 3455 g). Fifteen patients were restudied at different ages. In group A (age 1-14 days) out of 23, in group B (age 14 days-6 months) 5 from 13 IDM and in group C (older than 6 months, (n=10) no IDM had an increased ratio of intraventricular septal thickness (IVS) to left ventricular posterior wall thickness (LVPW). One patient showed a systolic anterior motion of the mitral valve (SAM) without having other symptoms for a left ventricular outflow tract obstruction. All measured dimensions normalized within 6 months. It is concluded that a form of prematurity may be responsible for the transient, asymmetrical, septal hypertrophy.
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PMID:Echocardiographic profile of infants of diabetic mothers. 622 28

Direct hyperbilirubinemia, may result from a variety of pathologies, including structural obstructions with biliary tract occlusions (as in cholelithiasis), infections (e.g. hepatitis) and genetic disorders (Rotor's and Dubin-Johnson's syndrome). One of the less common and probably more frequently underdiagnosed causes is benign recurrent intrahepatic cholestasis (BRIC). First described in 1959, BRIC was further classified into two subgroups which differ in their pathogenesis and clinical manifestation. Both BRIC types originate from impaired function bile salt excretion from hepatocytes to the canaliculi which is mediated by the bile salt export pump (BSEP) which is located on the hepatyocyte membrane, unevenly distributed within the membrane lipid bilayer. In BRIC type-I, a mutation impairs the asymmetrical distribution of BSEP. In BRIC type-II, a mutation occurs directly damaging the BSEP. Apart from cholestasis, clinical manifestations of BRIC type-I include extra-hepatic symptoms such as watery diarrhea, pancreatitis and hearing impairment. Patients with BRIC type-II present mainly with hepatobiliary disease such as colelithiasis. In the past, BRIC was conventionally considered to result in no more than canalicular cholestasis, however several reports have associated BRIC with fibrosis and porto-portal septa formation. Disease course may last between weeks and months, more common in females, at any age, and usually resolves spontaneously, although chronic liver disease has also been described. Treatment modalities range from expectant management, medication (cholestyramine, ursolit) or even surgery (biliary bypass/liver transplantation). This report describes a patient with BRIC type-II and reviews the relevant literature.
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PMID:[Benign recurrent intrahepatic cholestasis type-II--a rare cause of direct hyperbilirubinemia exacerbations with hepatic fibrosis]. 1877 Sep 56