Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085632 (apathy)
 4,089 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.
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PMID:[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report]. 734 41

In the present study, we investigated the effects of waterborne copper (Cu) on the levels of metallothionein (MT) and malondialdehyde (MDA), as well as activities of superoxide dismutase (SOD) and catalase (CAT) in gills of cichlid fish Oreochromis niloticus. The Cu concentrations in gills were measured using an atomic absorption spectrometer. The sandwich-ELISA was used to measure MT, SOD, CAT, and MDA. The Cu concentrations in gills of fish that were exposed to 1, 5, and 10 mg Cu/L were significantly increased at day 1 (D1), then gradually decreased starting from D2, and reaches the similar value with the controls at D5. A similar tendency has been observed in the MT levels in the gills. All of the Cu-exposed fish showed the highest level of MT on D1, and then decreased at D3 and a plateau at D4 and D5. The levels of SOD and CAT in gills in all Cu-exposed fish showed a similar pattern: increased significantly at D1, then gradually decreased starting from D2, and increased again at D4 and D5. The levels of MDA in gills of all Cu-exposed fish showed no significant difference. The indifference levels of MDA in gills of all Cu-exposed fish suggested the antioxidant defense systems (SOD and CAT) combined with the induction of MT were able to completely scavenge the increased ROS.
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PMID:The Change of Metallothionein and Oxidative Response in Gills of the Oreochromis niloticus after Exposure to Copper. 3119 97