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Biomedical subjects

N Telerman-Toppet

Publications and source records attributed to N Telerman-Toppet.

At least 55 records · Page 3Linked to original sources

Motor innervation and fiber type pattern in amyotrophic lateral sclerosis and in Charcot-Marie-Tooth disease.

A quantitive study of the terminal innervation ratio (TIR) was conducted using 18 amyotrophic lateral sclerosis (ALS) and 12 Charcot-Marie-Tooth disease (CMT) muscle biopsies. Morphometric and histochemical analyses of muscle fibers were performed in 9 ALS and 6 CMT biopsies. The results revealed that TIR and type grouping were significantly greater in CMT than in ALS. The proportion of type 3 fibers was higher in ALS, though the proportion of intermediate and type 0 fibers was significantly higher in CMT. The atrophy factor was significantly greater in type 3 than in types 1 and 2 fibers, but it was not significantly different in type 0 and intermediate fibers as compared to types 1 and 2, It appears, therefore, that CMT has a better capacity for collateral reinnervation than ALS. Type 0 and intermediate fibers may represent altered endproducts of successful collateral reinnervation.

Adenosine Triphosphatases

Unclassified familial myopathy resembling Steinert disease, without myotonia.

A familial myopathy with predominantly proximal muscle atrophy is described. Although several clinical features such as sternomastoid and brachioradialis muscle involvement suggested Steinert disease, myotonia was not demonstrated by clinical examination or EMG. Histological data were consistent with myotonic dystrophy.

Adult

[Vasculitis of the central nervous system].

The involvement of the central nervous system (CNS) by a vasculitic process is an infrequent but serious manifestation of several systemic diseases. The neurological disturbances are most often due to cerebral ischemia; however, vascular inflammation is not the only pathogenetic factor of CNS disease in systemic vasculitis. Most often, the specific diagnosis of CNS vasculitis depends on identifying clinical or histologic evidence of target organ involvement outside the CNS. The primary angiitis of the central nervous system (PACNS) is a rare form of vasculitis limited to the central nervous system. The diagnosis of this disorder is difficult owing to its various clinical manifestations and to the poor specificity of the neurological investigations. The demonstration by cerebral angiography and/or tissue examination of an arteritic process is mandatory for establishing this diagnosis.

Biopsy

Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage.

A young patient had an auriculo-ventricular block and a distal myopathy with muscle biopsy findings suggestive of inclusion body myositis. What was most unusual was the presence of numerous sarcoplasmic bodies identified as desmin by electron microscopy and immunocytochemistry. The nosological situation of this condition is discussed.

Child