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Biomedical subjects

M Fardeau

Publications and source records attributed to M Fardeau.

At least 199 records · Page 11Linked to original sources
PubMed1987

Physical state abnormality of erythrocyte membrane in myotonic dystrophy: a spin label study.

Biophysical abnormalities of the erythrocyte membrane in muscular dystrophies have been described by numerous authors. This work presents the results we have obtained on 23 subjects suffering from myotonic muscular dystrophy (MyD, Steinert disease) by the spin label method. Two types of fatty acid spin labels were used: 5-nitroxide stearic acid (5NS) and 16-nitroxide stearic acid (16NS) which probe the membranes respectively near their polar heads and in their hydrophobic core. We measured the classical order parameter, the saturation behaviour of the electron paramagnetic resonance signal, and the label apparent rotation correlation time as a function of the temperature, on fresh and in vitro stored red blood cells. With the 5NS label, no differences were found between controls and patients. With the 16NS label, a highly significant variation in the thermic behaviour of the membrane is observed in its hydrophobic and fluid core. This last result may suggest some similarities between the red blood cell membranes of adult MyD's and healthy children.

Adolescent↗
PubMed1987

Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis.

We used phosphorus NMR spectroscopy to study 16 patients with muscular enzyme deficiencies affecting glycogenolysis and glycolysis. Study of phosphomonoester (Pm) kinetics and intracellular pH during exercise and recovery provided criteria for the distinction of these metabolic myopathies by NMR spectroscopy. The Pm peak was undetectable in patients lacking debrancher enzyme or phosphorylase. By contrast, in phosphofructokinase (PFK) or phosphoglycerate kinase (PGK) deficiency, the Pm peak was larger than that of inorganic phosphate in exercise, whereas it was always smaller in normal subjects. During recovery, the disappearance of Pm was slower in PGK than in PFK deficiency.

Adolescent↗
PubMed1987

Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons.

Preparations derived from embryonic and neonatal chick muscle enhance neurite outgrowth when added to cultures of embryonic chick spinal neurons. In the presence of soluble extracts of biopsied muscle from 15 of 20 patients with spinal muscular atrophy (SMA), the in vitro neurite-promoting activity of neonatal chick muscle was inhibited. There was no comparable inhibition using extracts from 20 age-matched pathologic or morphologically normal controls. The neurite-promoting activity in media conditioned by embryonic myotubes was not inhibited by extracts of the SMA group.

Animals↗
PubMed1987

[Muscular regeneration by autograft of in vitro multiplied satellite cells].

We used a free-grafting technique modified from that described by Carlson and Gutmann, to induce an ischemic injury of Extensor Digitorum Longus (EDL) muscle in adult rats. In these muscles, a peripheral rim, three to five muscle fibers thick, survive ischemia whereas the muscle fibers occupying the central part follow a sequential pattern of necrosis, degradation and regeneration. Association of X-irradiation to the experimental injury inhibits mitosis of myogenic cells, thus preventing, the regeneration of the injured fibers. At the 14th postoperative day, the muscle is reduced to a cystic structure. The center of this structure is occupied by a loose fibrinous and collagenic network with a few cellular elements. In vitro multiplied autologous satellite cells, labelled with fluorescent latex beads, were injected back into this preparation. Our results indicate that these cells have retained their myogenic characteristics and are able to reform fully differentiated muscle fibers.

Animals↗
PubMed1987

[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology].

Thirty-three children presenting with "primitive" cardiomyopathy observed from January 1984 to December 1985 underwent a protocol of investigations consisting of histo-enzymatic study of the deltoid muscle, metabolic studies (glucose, free fatty acids, lactate, pyruvate, 3-hydroxybutyrate, aceto-acetate, carnitine, amino-acids blood levels after a 15 hour-fast; urinary organic acids chromatography) and a study of the fatty acids oxidation in cultured fibroblasts. In all children cardiac involvement was predominant and had been the cause for hospitalization. Cardiomyopathies of the hypertrophic type have an early onset, most often are part of a complex picture of extra-cardiac involvement and frequently have a lethal evolution. On the contrary, hypokinetic dilated cardiomyopathies are most often isolated, have a later onset and a less severe course. In 2 cases, an early hypokinetic dilated cardiomyopathy evolved toward hypertrophy. Peripheral muscular involvement is very frequent (lipidosis, mitochondrial aggregates or specific aspects) (60% of cases) in dilated as well as hypertrophic types. A precise etiological diagnosis or a strong presumption was possible in 12 of 33 cases: 2 with hereditary deficiency of the fatty acids beta-oxidation, 1 carnitine systemic deficiency, 1 Friedreich ataxia, 1 central core disease, 1 coxsackie B1 myocarditis, 6 strong suspicions of respiratory chain deficiency.

Cardiomyopathy, Dilated↗
PubMed1986

Immunocytochemical analysis of myosin heavy chains in human fetal skeletal muscles.

Quadriceps muscle samples from human fetuses (10 weeks of gestation to term) were studied using immunocytochemical methods with monoclonal antibodies against fetal, adult-slow and adult-fast B myosin heavy chains. The monoclonal antibodies were selected for their virtually exclusive specificity for a particular isomyosin and used to investigate the expression of different myosin heavy chains during fetal development of muscle fibres. Concomitant studies of the myofibrillary ATPase pattern of muscle fibres were carried out. A fetal-specific myosin was persistently expressed during fetal life but at a continuously decreasing rate. Adult-slow myosin was observed in a small pool of muscle fibres, histochemically undifferentiated, in fetuses of 14-16 weeks of gestation. However, adult isomyosins appeared intensively only in the late fetal period, progressively replacing fetal myosin. The genes coding for adult-slow myosin are expressed earlier that those coding for adult-fast myosin. Myosin heavy chains specific for the neonatal period were not demonstrated with the antibodies used in this study. The contribution, provided by the present study, to the knowledge of the sequence of events in the expression of myosin heavy chains during normal muscle development, may allow a better understanding of eventual myosin changes which may occur in genetic muscle disorders.

Adult↗
PubMed1986

Human myotube differentiation in vitro in different culture conditions.

Human muscle cells derived from satellite cells, maintained in standard tissue culture conditions, do not differentiate as rapidly or as completely as myoblasts from other species (chicken, rat, mouse). In an attempt to improve myogenesis, we studied the effects of modifying the culture media and of coculturing muscle with nerve cells, using myoblasts grown in standard culture media as the basis for comparison. Myogenesis was measured by fusion index, creatine kinase (CK) activity; acetylcholinesterase (AChE) activity (total and molecular forms); and the number of acetylcholine receptors (AChR). Modification of culture media accelerated fusion of myoblasts, but the cell density decreased and myotubes were unable to survive for long periods. In contrast, coculturing muscle with nerve cells increased both cell density and the number of myotubes. CK, AChE and AChR increased in the presence of defined media. In the nerve-muscle cocultures the increase was less marked. Manipulating culture conditions modified the molecular forms of AChE. Only a (4 + 6.5) S peak was present in control cultures, but a 10S peak appeared in defined media. The 16S form was detected only in nerve-muscle cocultures. This study shows that fusion of human myoblasts and differentiation of myotubes in tissue culture can be accelerated by removal of serum macromolecules. Further differentiation of myotubes was achieved only in the nerve-muscle cocultures.

Acetylcholinesterase↗
PubMed1986

In vitro myotrophic effect of serum kappa chain immunoglobulins from a patient with kappa light chain myeloma and muscular hypertrophy.

Muscle hypertrophy due to enlarged muscle fibers was accompanied by kappa light chain myeloma in a 62-yr-old man. Immunofluorescence showed kappa light chain deposits around muscle fibers. We hypothesized that a circulating growth factor may be involved in the pathogeny of this muscular hypertrophy. Patient serum cultured with muscle cells showed that (a) the patient's serum exhibited a trophic effect on human muscle cells in culture, (b) this trophic effect increased the differentiation and did not influence the proliferation of human muscle cells, and (c) the fraction of the patient's serum immunoadsorbed on antihuman kappa chain antibodies exhibited the same in vitro effect on the muscle cells, whereas the fraction immunoadsorbed on antihuman lambda chain antibodies did not. These results support the hypothesis that the patient's kappa light chains have a specific enhancing effect on human muscle cell differentiation, perhaps leading to an acquired muscular hypertrophy.

Cell Differentiation↗
PubMed1986

[Clinical recovery from Isaacs' syndrome].

A patient with Isaacs' syndrome (previously reported in 1966) has been clinically normal since 1972. The possibility of an outcome of this type has been reported by Isaacs and Heffron (1974) and in subsequent reports. This does not provide an explanation for the syndrome of continuous muscle fiber activity but constitutes an additional clinical feature.

Adult↗
PubMed1986

[Marfan's disease and familial neuropathy with sausage-shaped swelling. A case of fortuitous association].

A 25-year-old patient and his sister had Marfan's syndrome and recurrent pressure neuropathy. Marfan's syndrome was inherited from their father while the neuropathy was inherited from their mother. Thus, the association of both disorders in the same patient was fortuitous. However it is suggested that the ligamentous hyperlaxity related to Marfan's syndrome may favour the occurrence of the neuropathy due to pressure.

Adult↗
PubMed1985

Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.

Four siblings of a family of 11 were afflicted with a predominant parkinsonian syndrome, pyramidal signs, intellectual deterioration, and peripheral neuropathy. Symptoms were noticed first when they were aged 8 years; the condition was slowly progressive. All presented similar clinical features of varying severity. Nerve and muscle biopsies of two patients exhibited inclusions of concentric lamellae 2 nm thick with a periodicity of 3.6 nm, in the cytoplasm of perineurial and Schwann cells, endothelial cells and pericytes of blood capillaries, and muscle satellite cells. These inclusions differ in their location and morphological features from other inclusions that have been described in nerve and muscle biopsies of many disorders. The features of these inclusions suggest that they may represent a storage deposit whose nature could not be determined. They may be a distinguishing morphological feature of a multisystem disorder which to our knowledge has not been identified previously.

Adult↗
PubMed1985

Ocular myopathies.

Ocular myopathies are manifested by primary and progressive involvement of extraocular muscles. In most cases of involvement of extra-ocular muscles a biopsy from somatic muscles studied by histochemistry and electron microscopy permits to make the diagnosis of the underlying condition. The two main clinico-pathological types of ocular myopathies are the oculocraniosomatic syndrome (Kearns-Sayre syndrome) and oculopharyngeal muscular dystrophy. The oculocraniosomatic syndrome is a multisystemic disorder and its histopathological hallmark is the presence of ragged-red muscle fibres which contain aggregates of abnormal mitochondria, often with paracrystalline inclusions. In the oculopharyngeal muscular dystrophy are observed muscle fibres with rimmed vacuoles and intranuclear tubular filamentous inclusions about 8.5 nm in external diameter. The rimmed vacuoles may occur in other muscle diseases but the intranuclear inclusions appear to be specific for oculopharyngeal muscular dystrophy. Their nature is unknown.

Humans↗
PubMed1985

Fibronectin, laminin, type I, III and IV collagens in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies: an immunocytochemical study.

The distribution pattern of fibronectin, laminin, type I, III and IV collagens in human skeletal muscle was studied by immunofluorescence. In normal muscle, as well as in congenital myopathies (CM), type I and III collagens were localized in the endomysium and the perimysium. Laminin and type IV collagen delineated precisely each muscle fiber but did not stain the perimysium. In Duchenne's muscular dystrophy (DMD) as well as in congenital muscular dystrophies (CMD) the extensive proliferation of connective tissue consisted mainly of fibronectin and type I and III collagens. Laminin and type IV collagen delineated principally the basal lamina but suprisingly were found to be distributed to some extent all over the extracellular matrix. No disease--specific accumulation of components of the extracellular matrix was found which would enable us to differentiate these last two diseases, though the immunofluorescence reactions for all components were stronger in DMD than in CMD.

Adolescent↗
PubMed1985

[Effect of the serum of a patient affected by myeloma with diffuse muscular hypertrophy on the growth of human muscle cells in vitro].

Diffuse skeletal muscle enlargement appeared in a 62 years old male without any detectable endocrine disturbance. The patient's weakness contrasted with his athletic appearance. There was no myotonia nor fasciculations. The laboratory investigations were unrevealing until 18 months after the apparent beginning of the disease: free kappa light chains in serum and urine and plasmocytosis in the bone marrow established the diagnosis of multiple myeloma. No amyloid infiltration was observed on the biopsied tissues: skin, muscle and tongue. The diameters of the muscle fibers were at the upper limit of the normal range. There was no fiber type grouping. Kappa light chain deposits surrounding the muscle fibers and numerous coated vesicles beneath the sarcolemmal membrane were found by electron microscopy. The patient's serum was tested on human muscle cell cultures and displayed trophic properties for these cells. This effect was not due to an acceleration of the myoblast proliferation, but to an enhancement of their differentiation. The fusion was more rapid than in presence of control serum and lead to larger and highly branched myotubes. Protein synthesis was increased as demonstrated by the significantly higher 3H-leucine incorporation into the trichloroacetic-acid precipitable material. An identical trophic effect was also found with the kappa light chains purified from the patient's serum but only in the presence of normal human serum.

Blood↗