Search PubMed⌕ Search

Biomedical subjects

M Fardeau

Publications and source records attributed to M Fardeau.

295 records · Page 17Linked to original sources
PubMedDate not supplied

[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

This report concerns a family in which several members presented an involvement of skeletal and velo-pharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances and lens opacities. The mode of transmission is autosomal dominant. The E.M.G. showed neither spontaneous activity nor myotonic discharges. In two patients, the muscle biopsies showed identical changes. By light microscopy it was seen that in numerous type I fibres, the intermyofibrillar network was "rubbed out" and this occurred along with splitting of such fibres. Electron microscopy revealed an intrasarcoplasmic accumulation of an electron-dense granulo-filamentous material: in some areas it formed a mesh of threads around the myofibrils and in others it was disposed regularly in small stacks facing the Z lines. Continuity or structural similarity of this material and the Z lines was not observed; its relationship with the dense strips of leptofibrils is suggested.

Adult↗
PubMedDate not supplied

[Methodological approaches of a social budget of disability].

By gathering data from different sources, it may be possible to estimate the French social budget of disability. In 1990, approximatively 126.9 million FF were devoted by the nation to its disabled population. One quarter of the amount is "in kind", for financing training centers, nursing homes for the disabled... The three remaining quarters are composed of "cash benefits" (disability allowances, work accident annuities,...). The approach makes it possible the assessment of disability in economic terms.

Budgets↗
PubMedDate not supplied

[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies].

A 33 year old man has been presenting since childhood an exertional muscle pain syndrome without myoglobinuria. Muscle biopsy revealed a vacuolar myopathy with glycogen excess in subsarcolemmal and intermyofibrillar spaces which was confirmed by electron microscopy. Plasma production of ammonia was abnormally high during exercise on a bicycle ergometer while the raise of lactate was normal. NMR spectroscopy showed an increased muscle glycogen content, with a slight and delayed drop of the pH during exercise. Phosphorylase b kinase activity was undetectable in muscle specimen whereas activities of others enzymes of carbohydrate metabolism were normal. Clinical presentation of our patient is compared to that of the reported cases of phosphorylase b kinase deficiency.

Adult↗
PubMedDate not supplied

[Anatomo-clinical study of a case of "ophthalmoplegia plus" with analysis of muscular, central nervous, ocular, myocardial, and thyroid lesions].

This study deals with a case of "ophtalmoplegia plus" with histochemistry and electron microscopy of a muscle biopsy and full pathological examination in a 29 year old woman. Ragged-red fibers with abnormal mitochondria, cerebral spongiosis mostly involving white matter, perimacular pigmentary retinopathy and scattered myocardial fibrosis interrupting the Hiss'bundle were found. A goiter with hypersecretion of thyroid hormones and thyroid and ocular muscles changes characteristics of Graves' disease without any hypermetabolism occurred in her late twenties. This could be related to the absence of response from the abnormal mitochondria to the thyroid hormones.

Adult↗