Search PubMed⌕ Search

Biomedical subjects

M Fardeau

Publications and source records attributed to M Fardeau.

At least 253 records · Page 14Linked to original sources
PubMed1976

Familial fingerprint body myopathy.

Muscle biopsy specimens from two half brothers with a congenital benign muscle disorder and from their mother, clinically unaffected, were studied by histochemistry and electron microscopy. In the children's biopsy specimens, the ultrastructural examination showed numerous fingerprint bodies located at the periphery of the muscle fibers. The histochemical pattern was different in these two specimens. In the mother's biopsy specimen, while fingerprint bodies were not found, the muscle fibers showed slight but definite changes. Even if the fingerprint bodies by themselves are not specific for a particular muscle disease, their occurrence in two half brothers is a valid argument in favor of the individalization of the fingerprint body myopathy, which has been previously described.

Adult↗
PubMed1976

Ultrastructural study of a muscle biopsy in a case of GM1 gangliosidosis type I.

The main ultrastructural findings in a muscle biopsy from a child aged 11 months with a GM1 gangliosidosis were cytoplasmic inclusions of two different types: (1) inclusions filled with a moderate electron dense and polymorphous material thought to correspond to ganglioside accumulation and lying only in the Schwann cells of intramuscular nerves. (2) Vacuolar inclusions regarded as containing polysaccharides and observed in perineurial cells, endothelium and pericytes of blood vessels, and also in muscle satellite cells. The muscle fibres only exhibited moderate and non-specific changes. The study shows that in a muscle biopsy of GM1 gangliosidosis the two characteristic types of storage deposits and their preferential localization in different cells may be demonstrated, providing that the intramuscular nerves and motor end plates are examined.

Galactosidases↗
PubMed1976

[Centromuclear myopathy with late clinical manifestations. Clinical, histological and ultrastructural study of a new case].

A new case of late-onset centronuclear myopathy is reported. Clinical manifestations only occurred after 27 years age and consisted in diffuse muscle weakness without any ocular involvement. No other case was found in the family. In muscle biopsies the frequence of central nuclei was close to 100 p. 100. With the myofibrillar A.T.Pase reaction, almost all the fibers were type I. Furthermore, the electron microscopic study showed frequent vacuoles and splitting aspects of the muscle fibres, with "en passant" myotendinous junctions. Unusual granular bodies were found near the basement membrane, in particular within the subneural folds of the end-plates.

Adenosine Triphosphatases↗
PubMed1975

Congenital myopathy with "reducing bodies" in muscle fibres.

A muscle biopsy of a boy of 14 years presenting clinically a benign congenital myopathy showed granular intrasarcoplasmic bodies exhibiting reducing activity. The resemble the bodies described by Brooke and Neville in muscle of two children with severe congenital myopathy which they referred to as "reducing body myopathy". If the reducing bodies are the characteristic morphological feature peculiar to this newly recognized congenital myopathy, the case reported here would be therefore a benign form of reducing body myopathy. The origin and nature of the granular material forming the bodies is doubtful. The close relationship between this material and the myofilaments may suggest that the granules arise from some myofibrillary component.

Adolescent↗
PubMed1975

[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity].

Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.

Adult↗
PubMed1975

[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family].

In two sisters with a neo-natal hypotonia, muscle biopsies demonstrated as main pathological feature a disproportion in size between the two types of muscle fibers defined according to their myofibrillar ATPase activity. Type I fiber mean diameter was at the lower limit of the normal values, and type II fibers were larger than normal. Their father's biopsy also showed an abnormal smallness of the type I fibers, with a bimodal distribution. By electron microscopy, the small type I fibers did not reveal any significant abnormality in children's biopsies. In father's biopsy, there was an abnormal degree of filamentary interchange between contiguous myofibrils and a few stacks of rods in the type I fibers. These three cases demonstrate the familiar character of the disorder. The relationship of this new entity with the other congenital myopathies is controversial, as a similar congenital fiber type disproportion, has been found in association with different ultrastructural changes. Several data favour an insufficient development of the type I fibers rather than an atrophying process. The mechanism of this "hypotrophy" remains unknown.

Adenosine Triphosphatases↗
PubMed1972

Acute asymmetrical neuritis associated with rapid ultrafiltration dialysis.

Three patients with chronic renal failure treated by haemodialysis developed acute asymmetrical sensory and motor neuropathies when ultrafiltration was induced to treat oedema. The neuropathies were characteristic of acute mononeuritis multiplex rather than uraemic polyneuritis, and we give our reasons for believing that they were not caused by toxic uraemic metabolites but by an ischaemic process due to vasoconstriction resulting from ultrafiltration.

Acute Disease↗