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Diabetic neuropathy has been associated with a decrease in nerve conduction velocity, Na,K-ATPase activity and characteristic histological damage of the sciatic nerve. The aim of this study was to evaluate the potential effect of a dietary supplementation with fish oil [(n-3) fatty acids] on the sciatic nerve of diabetic rats. Diabetes was induced by intravenous streptozotocin injection. Diabetic animals (n = 20) were fed a nonpurified diet supplemented with either olive oil (DO) or fish oil (DM), and control animals (n = 10) were fed a nonpurified diet supplemented with olive oil at a daily dose of 0.5 g/kg by gavage for 8 wk. Nerves were characterized by their conduction velocity, morphometric analysis and membrane Na, K-ATPase activity. Nerve conduction velocity, as well as Na,K-ATPase activity, was improved by fish oil treatment. A correlation was found between these two variables (R = 0.999, P < 0.05). Moreover, a preventive effect of fish oil was observed on nerve histological damage [endoneurial edema, axonal degeneration (by 10-15%) with demyelination]. Moreover, the normal bimodal distribution of the internal diameter of myelinated fibers was absent in the DO group and was restored in the DM group. These data suggest that fish oil therapy may be effective in the prevention of diabetic neuropathy. [ABSTRACT FROM AUTHOR]

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree. [ABSTRACT FROM PUBLISHER]

We report an original case of mitochondrial cardiomyopathy discovered in a young woman during an episode of cardiac decompensation. The diagnosis was suspected from the echocardiographic appearances of granite-like heterogeneous hypertrophic cardiomyopathy. It was confirmed by endomyocardial biopsies. The clinical evolution was favourable with classical treatment. Mitochondrial cardiomyopathy is a rare cause of cardiomyopathy, generally observed in children, with multisystemic localisation. The pathophysiology and genetics are complex. Cardiac involvement is observed in 25% of cases, with the principal manifestation being hypertrophic cardiomyopathy. In the absence of any specific clinical or paraclinical signs, echocardiography and MRI are the techniques of choice for morphological evaluation. Diagnosis relies upon myocardial biopsy, which should be readily advocated in every unexplained case of cardiomyopathy in a young subject. The prognosis is poor and no specific treatment is available.

Introduction: In frame deletions of exons encoding the central rod domain of dystrophin have been associated with a highly variable phenotype, including asymptomatic individuals. The lack of family history impairs accurate genetic counselling., Observation: We report on a 4-year-old child suffering from transient episodes of limping at the age of 2 and several episodes of fall since the age of 3. Clinical examination did not show muscle weakness. CPK levels were increased (1300 UI). EMG was normal. Muscle histology showed a rhabdomyolysis without features of muscular dystrophy. Immunolabelling for dystrophin, merosin and dysferlin were normal. Western blot analysis of muscular proteins showed reduced-size dystrophin bands and a slightly reduced intensity for dystrophin, alpha and gamma-sarcoglycan. Multiplex PCR of the dystrophin gene showed an in-frame deletion of exons 50-51, predicted to be associated to a Becker type of dystrophinopathy. Intragenic markers and quantitative PCR suggested maternal inheritance. This was confirmed by testing the maternal grand-parents, revealing that the asymptomatic 69-year-old grand father was a carrier. Three additional healthy males, whose ages ranged from 28 to 55 years and who were asymptomatic, also carried the mutation. The proband became spontaneously asymptomatic and cardiac echography was normal. In light of these data, genetic counselling was more reassuring and the mutation carrier maternal aunt, who was pregnant, decided to continue the pregnancy., Conclusion: This case report emphasizes the importance of family molecular analysis, especially in males from the maternal lineage, for genetic counselling of dystrophinopathies associated to atypical features or to an isolate increase of muscular enzymes level in a young boy with no positive family history.

Introduction: Tufted angioma and kaposiform hemangioendothelioma are two rare benign but aggressive vascular tumours that occur mainly in children., Observation: A 72 year-old man consulted for a 50 cm wide vascular tumour of the right shoulder which was increasing for 10 years. On histological examination there were features of tufted angioma and kaposiform hemangioendothelioma., Discussion: The tumour of this patient was atypical because of its big size never described before. The histological association of aspects which could correspond to tufted angioma and kaposiform hemangioendothelioma seems to confirm recent publications which support the hypothesis that these two tumours are two evolutive stages of one and only entity.

Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies. To date, published linkage studies have provided no evidence of genetic heterogeneity in severe neonatal myotubular myopathy (XLMTM). We have investigated a family with typical XLMTM in which no linkage to these markers was found. Our findings strongly suggest genetic heterogeneity in myotubular myopathy and indicate that great care should be taken when using Xq28 markers in linkage studies for prenatal diagnosis and genetic counseling.

Facial nerve neurectomy were performed in the baboon (Papio papio). Histochemical investigations showed usual criteria of such lesions. Therefore a loose of glycogene within the Type I muscular fibers was observed in animals with a former facial spasm.

We report the case of a 51 years old woman with myositis, myasthenia gravis and thymoma. First apparent sign is myositis in 1976 but chest X ray show a mediastinal opacity and the patient reports an intermittent diplopia since 1973. The evolution of myositis occurs in two bouts in 1976 and 1981, Myasthenia gravis restricted to diplopia from 1973 to 1979 grow worse first alone then in association with increase of myositis signs in 1981. The mediastinal opacity seen on chest X ray in 1976 don't change and is revealed to be a thymoma at operation in 1981. After thymoma ablation myasthenic and myositis signs decrease. This pathologic association is found 24 times in literature and involves "giant cells" in muscle biopsy in about 50 p. 100 of cases and a myocarditis also with "giant cells". Those "giant cells" unusual in common myositis appears to have a prognostic value.

Under the very broad term of brain in the elderly, we cannot consider exhaustively all the anatomical, physiopathological and pathological aspect and, still less, the therapeutic possibilities in diseases of the anesthetist should know concerning the special characteristics of this aging organ. First are recalled the anatomical, macro and microscopic data of the senile brain. The metabolic characteristics are then considered. Investigations which may give the clinician information concerning the organic state and metabolic capacities of the brain of the elderly subject, e.g. cerebral blood flow, fundus oculi, E.E.G. brain arteriography, tacography or tomodensitometry by scanner, are consideres. But in practice, they are difficult to use and their data are only relatively reliable, i.e. clinical examination is of great imporatnce and the overall impression prevails. The therapeutic possibilities are limited and in these elderly subjects with cerebral metabolism in unstable equilibrium, one should be circumspect and careful in treatment.

A case of acute Unverricht-Wagner dermatomyositis occurring two years after amputation of a great toe for malignant melanoma graded stage IV in Clark's classification is reported. A review of the literature found only six previous reports of dermatomyositis associated with malignant melanoma.

Five dogs and twelve rabbits were submitted to simulated diving at 6 ATA (compressed air) and 13-15 ATA (normoxic oxygen + nitrogen). Progressive decompressions were carried on for the first, rapid for the lasts. Motor nerve conduction velocity and nerve-muscle delays were measured. No variations could be observed neither for nerve conduction velocity nor for muscular and nerve action potentials. Nevertheless optic and electronic microscopy observations shew some nerve, neuronal and a few muscular alterations occuring during rapid decompression.