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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 112 patients with ischemic stroke and 115 patients of different sexes and age with dyscirculatory encephalopathy were examined for the main risk factors of cardiovascular diseases. Hypokinesia and obesity were most common in chronic vascular brain pathology whereas frequently occurring and prolonged psychoemotional overstrain, aggravated heredity and alcohol abuse promoted the occurrence of acute disorders of brain circulation. The combination of 4 and more risk factors significantly raises the probability of acute cerebral ischemia.
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PMID:[Risk factors of acute and chronic cerebral ischemia]. 215 17

The developmental course of spontaneous motility was investigated in a group of 26 fullterm infants, affected by mild to severe hypoxic-ischaemic encephalopathy. Serial 1-h videorecordings were carried out from birth to 15-22 weeks and a quality assessment of general movements (GMs) was made from a replay of the videos. Neurological follow-up of the infants were continued until at least 18 months of age; neonatal EEG and neuro-imaging techniques (US-scan, CT or MRI) were also carried out in all cases. The results indicate that perinatal asphyxia has important effects on the spontaneous motility of fullterm infants. Hypokinesis occurred very frequently during the first days of life, followed by a transient or prolonged (lasting longer than 15-22 weeks) abnormal quality of GMs. In the first 2 weeks the results of GM assessment did not correlate with the simultaneous findings of neurological examination, neuro-imaging and EEG, whereas they did when the results at 15-22 weeks were considered. The changes in spontaneous motility and especially GM developmental trajectories were good predictors of the neurological outcome. The predictive value of GM assessment was found to be similar to that of EEG and neuro-imaging, and better than neurological examination.
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PMID:Predictive value of general movements in asphyxiated fullterm infants. 814 72

Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories.
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PMID:Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. 1979 32