[Chorea and primary antiphospholipid syndrome: effective treatment].
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Biomedical subjects
Publications and source records attributed to R M Vilches.
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Three patients with Guillain-Barré syndrome (GBS) during active brucellosis are reported: in one of them, who had an unfavorable outcome, the clinical features, the neurophysiological studies and the sural nerve biopsy were consistent with the axonal form of GBS. In the remaining two patients, who had a satisfactory course, the neurophysiological studies and the sural nerve biopsy disclosed the demyelinating character of the disease. We agree with other authors that the axonal and demyelinating forms of GBS should be separated, in view of their different clinical and possibly pathogenetic implications, both in GBS in general and in the form associated with brucellosis.
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We present the association of a distrophinopathy with a case of facioscupulohumeral dystrophy in two individuals belonging to the same family. The discrepancy in the seric creatinphosphokinase (CPK) of the two patients together with certain clinical data suggests the possibility that it is a question of two different processes. This impression was confirmed later through dystrophine analysis and genetic examination techniques. This case drew attention to the vital need today to insist on a combination of genetic examinations and dystrophine analysis when diagnosing muscular dystrophies, thus avoiding mistakes derived from diagnostic assumptions made on the basis of antecedents in the family involving neuromuscular disorders and the consequences that this might have regarding vital prognosis and advice to the family. This is the first case of coincidental association of these two processes within one family that has so far come to our knowledge.