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Biomedical subjects

A Moise

Publications and source records attributed to A Moise.

8 recordsLinked to original sources

[An association between ankylosing spondylitis and rheumatoid polyarthritis; comments on 3 cases].

The article is an analysis of 3 clinical cases, characterized by the presence of the lumbosacral axial involvement, with the radiological evidence of a bilateral sacroiliitis and a peripheral polyarthritis displaying a rheumatoid picture, with rheumatoid factors in the serum and in 2 of the cases also in the articular fluid. These cases belong to the HLA-27 B histocompatibility type, a feature which could be, according also to the data of literature, an explanation of the association of these two diseases.

Adult

Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation?

A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities were normal in autopsy brain specimens and in cultured fibroblasts from the patient. Carnitine acetyltransferase was deficient in liver, brain, kidney, and cultured fibroblasts. Medium- and long-chain carnitine acyltransferase activities were normal. It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency.

Acetyltransferases