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Biomedical subjects

M Fardeau

Publications and source records attributed to M Fardeau.

At least 181 records · Page 10Linked to original sources
PubMed1990

Scapulothoracic arthrodesis for patients who have fascioscapulohumeral muscular dystrophy.

In nine patients who had fascioscapulohumeral muscular dystrophy, thoracoscapular arthrodesis was done for the treatment of symptomatic winging of the scapula. The objective was to improve the use of the upper extremity in the performance of activities of daily living. Seven patients had a bilateral procedure. The active range of motion of the shoulder improved in all patients, with flexion increasing an average of 33 degrees and abduction, 25 degrees. Complications included pneumothorax, pleural effusion, atelectasis, fracture of the scapula, and pseudarthrosis. The length of follow-up averaged sixty-nine months, and the results did not deteriorate with time.

Adolescent↗
PubMed1989

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

Kearns-Sayre syndrome (KSS) is a progressive neuromuscular disease characterised by ophtalmoplegia, cardiac bloc branch, pigmentary retinopathy associated with abnormal mitochondrial function. We have studied the mitochondrial DNA organization of patients presenting KSS and have found large deletions ranging from 3 to 8.5 kilobase pairs. DNA molecules containing deletion are accompanied by the presence of the normal sized mtDNA molecule forming heteroplasmic genomes. The deletions always map in the region which is potentially single stranded during mitochondrial DNA replication. The deletions differ in length and position between individuals but are similar within the different tissues of an individual suggesting that they arise during or before embryogenesis.

Biopsy↗
PubMed1989

Regeneration of skeletal muscle fibers from autologous satellite cells multiplied in vitro. An experimental model for testing cultured cell myogenicity.

An experimental model used to test in vivo myogenicity of autologous satellite cells multiplied in vitro is described. Free muscle autotransplantation served as the basis and was combined with x-irradiation. Administration of 1500, 2500, and 3500 rad doses 24 hours before or after ischemia showed that inhibition of spontaneous regeneration is dose dependent and more efficient when irradiation was applied before injury. A single dose of 2500 rad before injury resulted in the formation of a cystic structure ideal for cell implantation. FITC-latex beads and/or carbocyanine dyes were internalized by mononucleated satellite cells in vitro. Labeling did not affect survival or development of these cells. No sign of marker release or spreading from labeled to unlabeled cells was detectable unless by the fusion process. These labels were retained for several weeks. Grafting of labeled dense cellular suspensions into x-irradiated ischemic muscles indicated that satellite cells retain their myogenic characteristic and are able to reform fully differentiated muscle fibers.

Animals↗
PubMed1989

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle.

We report histochemical, immunocytochemical, biochemical and molecular studies of skeletal muscle from a 23-year-old man with Kearns-Sayre syndrome. Southern blot analysis revealed a 4.7 kb heteroplasmic deletion of the mitochondrial DNA mapping within genes coding for subunits of complexes I, IV and V of the respiratory chain and for tRNA. Cytochrome c oxidase activity was decreased by 30% in isolated muscle mitochondria, without alteration of the Km. Histochemical and immunocytochemical correlation studies for cytochrome c oxidase revealed a lack of activity in 34% of individual muscle fibers including all the typical ragged-red fibers and a low percentage of immunodeficient fibers.

Adult↗
PubMed1989

Linkage analysis of French families with facioscapulohumeral muscular dystrophy.

Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, proximal 19q, and 21q).

Chromosome Mapping↗
PubMed1989

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

Three patients, 72, 45 and 18 years old belonging to 3 successive generations presented with respiratory insufficiency. The clinical onset was at about 40 years of age in the two older patients and at 18 years in the youngest one. Serum enzymes of muscle origin were within normal range as well as leucocyte maltase activity. The muscle biopsy in all three patients showed numerous cytoplasmic (spheroid) bodies within type I muscle fibers. Familial cytoplasmic body myopathy with familial incidence has rarely been reported and still more rarely has been revealed by respiratory insufficiency in adult life.

Adolescent↗
PubMed1989

[Respiratory chain diseases in infancy. Clinical presentation and diagnosis].

Nineteen children with defects of the mitochondrial respiratory chain are described. First symptoms appeared during the first two years of their lives. Four types of clinical pictures were identified: 1/neonatal hypotonia. 2/cardiomyopathy. 3/progressive neurological deterioration. 4/multisystem disease. A study of pyruvate and fatty acids metabolism and a skeletal muscle biopsy were performed in all cases. Elevation of beta-hydroxybutyrate/acetoacetate and lactate were the most frequent biochemical abnormalities. Muscular biopsy in light microscopy showed in most cases abnormal lipid storage.

Biopsy↗
PubMed1989

[Histopathologic aspects of polymyositis and dermatomyositis. Correlation with the clinical course. Study of 57 cases].

Muscle biopsies from 57 patients with dermatomyositis or polymyositis were histologically evaluated and compared with the disease's clinical course. Perifascicular atrophy, perivascular infiltrates and tubular inclusions in endothelial cells were significantly more frequent in young patients with dermatomyositis. On the other hand, in adult polymyositis, which evolves more slowly, necrosis with slight muscular atrophy and perinecrotic infiltrates was observed. This division into two groups was clear when the clinical evolution and histological patterns were compared. The mean age of each group was different, but there was a large overlap. Two different pathogenetic mechanisms can be envisaged: primary involvement of muscle capillaries with muscle ischemia in young patients with dermatomyositis and primary involvement of muscle fibers in adults afflicted with polymyositis.

Adolescent↗
PubMed1988

Storage of phosphorylated desmin in a familial myopathy.

The quantity and the electrophoretic characteristics of desmin were analyzed in a familial skeletal muscle disorder, characterized by the intra-sarcoplasmic accumulation of an electron-dense granulo-filamentous material facing the Z-lines and reacting strongly with polyclonal anti-desmin antibodies. The analysis was performed on biopsies from the deltoid muscles of 4 patients, members of 2 families. In the 4 biopsies, an increase in the relative amount of desmin compared to that of actin or insoluble proteins (3 fold) and in the number of isovariants (6 instead of 3) was observed. The isovariants of desmin were similar to those described in Purkinje fibres of the heart as a phosphorylated form of the protein [(1987) Eur. J. Cell Biol. 44, 68-78]. Therefore, post-translational events could affect both the polymerization and the amount of desmin filaments in this autosomal dominant familial myopathy.

Adult↗
PubMed1988

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.

Adrenal Insufficiency↗
PubMed1988

Morphological study of peripheral nerve changes induced by chloroquine treatment.

Nerve biopsies were performed in four patients with suspected chloroquine induced neuromyopathy. Three of the patients were treated with high doses of chloroquine for connective tissue disease, while one patient was taking this drug as malaria prophylaxis. Morphological studies demonstrated the presence of segmental demyelination and remyelination in all cases. Cytoplasmic inclusions were observed in Schwann cells, in perineurial and endothelial cells, and in some interstitial cells. They were never observed within axons. Occasional curvilinear profiles were seen in perineurial and Schwann cells. Perineurial calcifications were observed in two cases. The results of this morphological study suggest that chloroquine neuropathy is essentially due primary involvement of Schwann cells.

Adult↗
PubMed1988

Effect of myasthenic patient sera on the number and distribution of acetylcholine receptors in muscle and nerve-muscle cultures from rat. Correlations with clinical state.

We studied the functional activities (FA) of sera obtained from 83 myasthenic patients on rat muscle cultures. Using the same sets of cultures, two parameters were evaluated after exposure to sera: residual fraction (RF) of acetylcholine receptors (AChR) coupled to 125I-labelled alpha-bungarotoxin (alpha Bgt) (81 sera) and the number of rhodamine labelled clusters (56 sera). Two types of culture were assayed: muscle alone and nerve-muscle cocultures (12 cases). In all combinations (fluorescence, radiolabelling, muscle alone and nerve-muscle cocultures), we found a significant correlation between FA and antibody (Ab) titre, and no correlation between FA and clinical severity: only sera with a high or intermediate Ab titre were effective, whatever the clinical severity of disease. With active sera, AChR loss was about 50% whereas the disappearance of AChR clusters was quite complete, which suggests AChR redistribution induced by MG sera.

Animals↗
PubMed1988

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.

We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values contrasting with normal blood lactate, and high 3-hydroxybutyrate/acetoacetate ratio with normal lactate/pyruvate ratio. This case emphasizes the importance of performing metabolic and biochemical investigations in every patient with Leigh syndrome, even in the absence of hyperlactatemia or myopathy.

Brain Diseases, Metabolic↗
PubMed1988

Effect of latissimus dorsi dynamic cardiomyoplasty on ventricular function.

In our approach to dynamic cardiomyoplasty, which consists of wrapping a skeletal muscle around the heart and stimulating the former in synchrony with heart contractions to augment ventricular contractility, we have transferred a latissimus dorsi muscle flap to the heart by way of a partial resection of the second rib and subsequently suturing the muscle flap around the ventricles. The muscle flap is stimulated by a Cardio-Myostimulator burst-pulse generator (Medtronic SP 1005) connected to intramuscular electrodes. In preclinical animal research, the latissimus dorsi muscle flap was shown to maintain adequate contractile force and to increase its fatigue resistance by gradual conversion of glycolytic-fatigue-sensitive-to-oxidative-fatigue-resistant muscular fibers (100%). Histochemical and biochemical studies of chronically stimulated muscles showed a total transformation of muscle fast myosin to slow myosin with characteristics similar to those of myocardium. Electron microscopy showed preserved myofibrillar cytoarchitecture and increased mitochondrial density in the cell. At 9 months, cardiac output and ultrasonic Doppler studies showed a significant increase in ventricular function (cardiac output, +21%; peak blood velocity, +40% -80%; and stroke volume, +98% -102%) during muscle stimulation. In the clinical situation, long-term (range of follow-up interval, 4-42 months) beneficial cardiac effects of cardiomyoplasty have been documented in eight patients with various pathologies (ventricular tumor, left ventricular aneurysm, ischemic disease, and dilated cardiomyopathy). Our current understanding of this process is that dynamic cardiomyoplasty acts in two ways: 1) it promotes more vigorous systolic contraction, and 2) it appears to limit heart dilatation.

Animals↗
PubMed1988

[Nerve growth factors: a hypothesis on their role in the pathogenesis of infantile spinal amyotrophies].

The spinal muscular atrophies (SMA) are inherited neurological disorders characterized by degeneration and atrophy of spinal motoneurons at infant and juvenile stages. The origin of these diseases, and the mechanism of their progression, are completely unknown. Nevertheless, the selective neuronal loss which characterizes them is reminiscent of a classical experimental observation: injection of antibodies to the Nerve Growth Factor (NGF) in neonatal rats results in the almost complete selective destruction of the sympathetic nervous system. NGF is one of a group of molecules, the neuronal growth factors, which most likely play a role in the regulation of neuron number and development in different parts of the nervous system. In particular, several in vivo and in vitro results suggest that muscle may at certain stages produce "motoneuron growth factors". Our hypothesis is that the motoneuron death observed in the spinal muscular atrophies may be accelerated (or perhaps brought about) by a malfunction in this trophic support system. We show how this model would explain the perinatal or infantile onset of the disease, the variability of the rate of evolution between the different SMA forms, and the fact that motoneuron loss is much more dramatic in SMA than in even advanced cases of myopathy. We raise the possibility that the genetic lesion that leads to the spinal muscular atrophies may directly involve the growth factor system. Preliminary results obtained in vitro using cultures of embryonic chick spinal neurons do indeed suggest that muscle of SMA patients contains substances that inhibit muscle-derived growth-promoting activities. However, such phenomena must be interpreted with caution until the neurons and molecules involved are better characterized.

Humans↗