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)

We report a 67-year-old man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), successfully treated with eicosapentaenoic acid ethyl ester (EPA-E) for about eight months. He showed bilateral auditory disturbance and slowly progressive gait ataxia at age 50 during treatment of diabetes mellitus (DM) with subcutaneous injection of insulin since age 29. At age 58 he manifested an acute hemiparesis of right extremities for one week with no abnormal findings on neuroradiological examinations. A permanent pacemaker was implanted at age 61 to treat frequent syncopal attacks due to complete atrioventricular block. On admission to our hospital, neurological examinations revealed dementia, auditory disturbance, severe cerebellar ataxia and mild atrophy of proximal muscles with systemic hyporeflexia. Based on a point mutation in position 3243 of mitochondrial DNA, he was diagnosed as having MELAS with severe DM, auditory disturbance and cardiac conduction block. After initiation of treatment with EPA-E at a dose of 2,700 mg/day he showed temporarily an improvement in auditory disturbance, blood glucose control and cerebellar ataxia. In objective evaluations for cerebellar ataxia, we could find significant decreases in times for 20 m walking and heel-knee patting in the ninth month, and in time for tracing of a whirl from the third to the ninth month, compared with those before treatment of EPA-E (p < 0.0001). Because EPA-E is taken into mitochondrial membranes and activates electron transmission enzyme complexes, it might be a candidate for therapy of mitochondrial encephalomyopathy, including MELAS.
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PMID:[A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), showing temporary improvement during the treatment with eicosapentaenoic acid ethyl ester]. 1199 86

Worldwide, approximately 30-50 millions of people are living in small scale gold mining areas and are primarily burdened by mercury vapour. In the frame of our study, 306 mercury (Hg) vapour burdened adults, working and/ or living in two small scale gold mining areas in Zimbabwe and Tanzania and 58 volunteers from near-by unburdened communities were medically investigated. In addition, blood, urine and hair samples from each participant were analyzed for mercury. Altogether, 26 anamnestic and 24 clinical signs and symptoms, which may be caused by Hg vapour, were evaluated. Multivariate analysis was performed to investigate the influence of the mercury concentration in the bio-monitors on the evaluated anamnestic and clinical signs and symptoms taking into account age, gender, health status, alcohol consumption, use of pesticides and gasoline sniffing. Out of the resulting correlations between concentration and effect, ROC-curves were calculated to determine best estimates of the cut-off-values in the bio monitors. For the parameters ataxia of gait and sadness cut-off-values of 4.7 and 3.6 microg Hg/g crea in urine were calculated. These values were converted to a rounded LOAEL of 3.5 microg Hg vapour/m(3) air. In analogy to the US EPA Report (U.S. Environmental Protection Agency 1997) and the European Position Paper (Pirrone et al. 2001), uncertainty factors of 30 and 50 were applied, resulting in a proposed reference concentration (RfC) in ambient air of 0.1 microg Hg vapour/m(3) and 0.07 microg Hg vapour/m(3), respectively.
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PMID:Proposal for a revised reference concentration (RfC) for mercury vapour in adults. 2092 15