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Objective: Expression of class I major histocompatibility complex (MHC) molecules on the surface of muscle cells is a biologic feature of idiopathic inflammatory myopathies (IIM). Class I MHC-transgenic mouse models support a causative role for class I MHC expression by muscle cells in the pathogenesis of IIM. The muscle lesions are characterized by leukocyte infiltration. We undertook this study to analyze the expression in muscle lesions of various class I MHC-specific receptors on leukocytes and natural killer (NK) cells., Methods: We generated a panel of cell transfectants to control the immunofluorescence analysis of class I MHC receptor expression. We then analyzed the expression of CD158 (killer cell Ig-like receptors [KIRs]) and CD85j (leukocyte Ig-like receptor 1, Ig-like transcript 2) on muscle sections prepared from 14 patients with IIM (5 with dermatomyositis [DM], 5 with polymyositis [PM], and 4 with sporadic inclusion body myositis [IBM])., Results: We could not detect the presence of NK cells in inflammatory lesions. However, the class I MHC receptor CD85j, but no KIRs, was expressed by inflammatory cells infiltrating muscle lesions in IIM., Conclusion: CD85j is expressed in PM and sporadic IBM at the sites of partial invasion and in DM in perivascular inflammation, paving the way for dissecting the role of CD85j in the pathogenesis of inflammatory myopathies.

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.

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.

Objective: To analyze the clinical and biochemical features of a recently described point mutation of mitochondrial DNA associated with diabetes. This mutation, characterized by a T14709C transition of a highly conserved nucleotide in the region coding for the glutamic acid tRNA, is heteroplasmic., Research Design and Methods: The phenotypic expression in the insulin-requiring diabetic proband from the pedigree was compared to that of diabetic probands from three families with the classic A3243G mtDNA mutation (maternally inherited diabetes and deafness [MIDD] syndrome). The same investigations to evaluate pancreatic neurosensorial and muscle involvement were performed in all four patients., Results: The natural courses of the diabetes and the hearing defects were not different between the two mutations. The patient with the 14,709 mutation, however, exhibited a milder alteration of pigmentary epithelium of retina and a much more severe muscle involvement, as attested by the clinical expression and the concurrent anomalies of muscle energy production evidenced by 31P magnetic resonance spectroscopy, confirming the profound impairment of oxidative processes., Conclusions: This novel mutation has to be added to the other known mtDNA anomalies in order to ascribe some diabetes suspected to arise from mitochondrial defects to this nosological framework.

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.

Objective: A point mutation in the mitochondrial genome has been identified as a cause of diabetes and deafness. We report two pedigrees with and A-to-G transition at nucleotide 3243 of mtDNA within the tRNALeu(UUR) gene and focus our investigations on other localizations of the anomaly, particularly muscle and retina., Research Design and Methods: Muscular localization has been studied in probands by invasive and noninvasive methods, including muscle biopsy (evaluation of the proportion of mutated mtDNA in comparison to blood cells, measurement of respiratory chain complex activities and histological and histochemical aspects) and 31P-nuclear magnetic resonance (NMR) spectroscopy. Ophthalmic and angiographic examination of retina, electroretinography, and visual evoked potentials were performed in five subjects., Results: This mutation, previously described in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), was expressed more abundantly in muscle than in nucleated blood cells. This low expression in blood cells could hamper the diagnosis for some patients. In addition, despite poor clinical expression, muscle was found to be highly affected. Ragged red fibers and dystrophic mitochondria were observed in muscle biopsy. Histochemical assays showed decreased activity of respiratory chain complexes, and 31P-NMR in vivo data further confirmed the defect of muscle oxidative processes. Exercise-induced lactate production was increased. Finally, in both families, an atypical "salt and pepper" pigmentary retinopathy was observed without consequences on visual acuity., Conclusions: In diabetes secondary to 3243 mtDNA mutation, infraclinical muscular and ocular lesions are frequent. These two locations of the disease, which are easily investigated by simple methods, can help in the diagnosis of this new type of diabetes.

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 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.

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.