Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical, biochemical and histological characteristics in six Arab children with progressive familial intrahepatic cholestasis (PFIC) (Byler's disease) are described. The autosomal recessive mode of inheritance is established. Jaundice and pruritus were early symptoms, with onset in the 1st 3 months in all patients. Other features included growth failure, developmental delay, ataxia, areflexia, gall-stones and epistaxis. Gamma-glutamyl-transpeptidase and cholesterol were normal, but total bile acid levels were uniformly elevated in all patients. Histology showed features of hepato-canalicular cholestasis, lack of bile duct proliferation and fibrosis or cirrhosis in all patients. Five patients who were followed up were alive at a mean age of 75.8 months.
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PMID:Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children. 868 10

We describe the clinicopathologic features of a mortality event characterized by blindness and dermatitis affecting eastern grey kangaroos ( Macropus giganteus), secondary to hepatogenous photosensitization. Affected animals exhibited photophobic behavior, blindness, ataxia, recumbency, lethargy, ear shaking, and behavior consistent with distress or depression. The photophobia manifested as abnormal shade-seeking during the day, including finding refuge under or in structures used frequently by people. Severely affected kangaroos were jaundiced and had markedly elevated serum bilirubin and gamma glutamyl-transpeptidase concentrations. Blindness in affected animals was attributed to moderate to severe corneal opacity due to corneal edema and inflammation. Skin lesions were typically subtle on gross examination even in cases which had severe necrotizing dermatitis histologically. Histologic lesions in the liver of affected animals included the presence of acicular clefts typical of steroidal saponins. The outbreak was associated with pasture dominated by the invasive grass, Panicum gilvum, which is a recognized source of saponin-induced photosensitization in livestock.
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PMID:STEROIDAL SAPONIN TOXICITY IN EASTERN GREY KANGAROOS ( MACROPUS GIGANTEUS): A NOVEL CLINICOPATHOLOGIC PRESENTATION OF HEPATOGENOUS PHOTOSENSITIZATION. 2949 96