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Biomedical subjects

C Desnuelle

Publications and source records attributed to C Desnuelle.

At least 73 records · Page 4Linked to original sources
PubMed1989

Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy.

We report severe deficiency of complex II of the mitochondrial respiratory chain and low activities of complex I and II in skeletal muscle mitochondria from a young woman with progressive muscle weakness and encephalopathy. Defects of complex II have only very rarely been described and this is the first report of decreased immunoreactive subunits associated with severe deficiency of this enzyme.

Adolescent↗
PubMed1989

[Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain].

We report the cases of a 46 year old woman and of a 18 year-old boy who met the criteria for Kearns-Sayre syndrome. Additional atypic features were present in one case: family history, psychosis and acute respiratory failure. In both cases histoenzymatic analysis of the muscle biopsy and biochemical studies of mitochondria isolated from the muscle sample demonstrated mitochondrial myopathy associated with combined partial deficiency of complexes I and IV of the electron transfer chain. Although there is no correlation between clinical and biological data in the mitochondrial myopathies our cases confirm that such defects are involved in Kearns-Sayre syndrome. Improvement with coenzyme Q10 therapy in these patients is reported.

Adolescent↗
PubMed1989

[Drug-induced bone pathology].

Some drugs are potentially toxic, directly or indirectly, to bone tissue. However, the banality of the bone pathology renders a definitive association difficult. Osteomalacia can be triggered by anticonvulsants, aluminum, fluoride or diphosphonates. Osteoporosis is induced more commonly with corticosteroids, long-term heparin administration or hypothyroid hormonal replacement therapy. The link between the bone disease and the suspected drug is accepted only if there is no other risk factor and after histomorphometric confirmation of the bone pathology.

Adrenal Cortex Hormones↗
PubMed1989

[A therapeutic trial of mazindol versus placebo in Duchenne muscular dystrophy. A one-year follow-up study of 14 children].

A simple-blind therapeutic trial of mazindol (2 mg/d) versus placebo in 14 boys with Duchenne muscular dystrophy, 5 to 13 years old, for 12 months was conducted in order to analyse the efficacy of this drug on the natural history of the disease. Evaluation of muscle strength by manual testing, motor ability by functional testing and timed tests, weight, height, serum CK and pulmonary function were performed every two months. The differences in evolution between groups were significant only for weight and height. However comparison of muscle strength and of vital capacity expressed as percent of predicted at the beginning and at the end of the study suggested a beneficial trend in the mazindol-treated group.

Adolescent↗
PubMed1989

[Anatomoclinical expressions of polymyositis in the child. 23 cases].

Childhood polymyositis is generally believed to exhibit specific characteristics including involvement of multiple systems, absence of malignancies, severe outcome, cortico-resistance, perforations of the bowel, and inflammatory vasculitis. On the basis of our experience with 23 cases and a review of the literature, we divide childhood polymyositis into five groups: 1) Severe acute dermatomyositis (11 cases) that fits the description above; 2) subacute or chronic polymyositis (4 cases) that resembles the chronic forms seen in adults; 3) infantile polymyositis (3 cases) whose inflammatory origin has not been proved and whose cause may be dystrophic; 4) inclusion polymyositis (2 cases) that are identical with adulthood inclusion myositis; 5) segmentary polymyositis (3 cases). Thus, in children as in adults, polymyositis remains an obscure disease and is a syndrome rather than an entity.

Adolescent↗
PubMed1988

Dihydropyridine-sensitive Ca2+ channel in aneurally cultured human muscles. Relationship between high-affinity binding site and inhibition of calcium uptake.

Dihydropyridine-sensitive Ca2+ channels and the relationship between binding of dihydropyridine derivatives and depolarization-induced Ca2+ uptake have been studied in aneurally cultured human muscle. Analysis of the equilibrium binding of the 1,4-dihydropyridine derivative (+)-PN200-110 revealed a single high-affinity binding site with a Kd of 0.15 +/- 0.05 nM and a Bmax of 87 +/- 12 fmol/mg protein. Inhibition of (+)-[3H]PN200-110 binding by nitrendipine revealed a Ki of 0.8 nM for the nitrendipine-receptor complex. Depolarization of cultured human muscle achieved by elevating the K+ concentration increased the uptake 45Ca2+ which was inhibited by nitrendipine with an IC50 of 1.1 nM. This study demonstrates that aneurally cultured human muscle has dihydropyridine-sensitive voltage-dependent Ca2+ channels which are functional when the fibers are depolarized.

Calcium↗
PubMed1988

[From diffuse functional myalgias to primary fibromyalgias].

Diffuse and chronic muscular pains, without any noticeable underlying anomaly, are a frequent cause for consultation. The origin of the pain was, at the beginning of the century, attributed to an inflammation of fascia, tendons, ligaments, subcutaneous tissues and even the muscle itself. Although this inflammatory etiology is not based on proven anatomical facts, some authors advocate an organic pathology of unknown origin and the terms of fibrositis or primary fibromuscular pain are used in the literature, especially the anglo-saxon literature, to describe such symptomatology. Clinical diagnostic criteria have been recently proposed in order to differentiate primary fibromuscular pain from functional diffuse muscular pains. The authors discuss the legitimacy of such distinction.

Chronic Disease↗
PubMed1987

Insulin enhances development of functional voltage-dependent Ca2+ channels in aneurally cultured human muscle.

Voltage-dependent Ca2+ channels were studied by the binding of the potent Ca2+ channel antagonist PN200-110 and by the K+-induced 45Ca2+ uptake in human muscle cultured aneurally in the presence of insulin, fibroblast growth factor, and epidermal growth factor, added in combination or individually. Compared to the muscle grown in medium without growth factors, 14-15 days of treatment with insulin (10 micrograms/ml) alone or in combination with two other growth factors caused a 3.4- and 3.8-fold increase per culture dish in the number of PN200-110 binding sites, respectively. There was no change in the affinity of the ligand-receptor complex. Under the same conditions, there was also fourfold increase of the K+-induced 45Ca2+ uptake in cultured human muscle. Neither fibroblast growth factor nor epidermal growth factor alone influenced PN200-110 binding sites. Our study demonstrates that insulin enhances the development of functional voltage-dependent Ca2+ channels in cultured human muscle.

Calcium↗
PubMed1986

[3H]nitrendipine receptors as markers of a class of putative voltage-sensitive Ca2+ channels in normal human skeletal muscle and in muscle from Duchenne muscular dystrophy patients.

Properties of nitrendipine receptors have been analyzed in skeletal muscle from normal young boys and boys with Duchenne muscular dystrophy (DMD). The dissociation constant (Kd) of the complex formed by nitrendipine with its specific receptors was 0.5 +/- 0.1 nM in dystrophic muscle and 0.4 +/- 0.1 nM in normal muscle. Maximum binding capacities Bmax were 403 +/- 80 and 460 +/- 60 fmol/mg protein in DMD and normal muscle, respectively. These results suggest that nitrendipine binding sites on nitrendipine-sensitive Ca2+ channel binding sites are not altered in Duchenne muscular dystrophy.

Calcium↗
PubMed1986

[Treatment of amyotrophic lateral sclerosis with thyrotropin releasing hormone].

Nine patients (7 with amyotrophic lateral sclerosis, 1 with progressive spinal amyotrophy and 1 with chronic anterior poliomyelitis) were treated by sequential intravenous administration of 240 mg of TRH over one hour every two weeks. Results were assessed by an analytical evaluation of muscle strength before and 24 h after each infusion and by objective and subjective evaluation of spasticity. Significant improvement, as shown by statistical analysis, was noted in muscle strength in the 9 patients by 5 infusions over a 4-week period and a sub-group of 5 patients treated by 8 infusions over 10 weeks. Continued use of this therapy is justified by the need to determine its long-term effects and the psychological improvement noted in some patients after an even transient improvement in motor performance. However this treatment is obviously not curative.

Adult↗
PubMed1985

Biochemical characterization of plasma membrane isolated from human skeletal muscle.

Specific components of ion translocation systems were studied in excitable plasma membranes isolated from normal human muscle. Na+-K+ ATPase and ouabain-sensitive K+ phosphatase activities were 8.9 +/- 1 mumol Pi/h per mg protein and 96 +/- 9 nmol/min per mg protein, respectively. Scatchard analysis of equilibrium binding assays with [3H]ouabain showed non-linear curves consistent with high- and low-affinity sites (estimated Kd 3 nM and 0.22 microM). Two families of receptors with different affinities for a tritiated TTX derivative (estimated Kd 0.4 and 4 nM) were also identified suggesting the existence in human muscle of at least two classes of voltage-dependent Na+ channels. In addition (+)-[methyl-3H]PN200-110, a potent Ca2+ antagonist used for labeling voltage-dependent Ca2+ channels, was observed to bind to a homogeneous population of receptors in the plasma membrane (Kd = 0.2 nM).

Calcium Channel Blockers↗
PubMed1985

[Muscular scanning in polyarthritis and rheumatology].

Atypical features were observed in 7 out of 120 cases of rheumatoid arthritis and in 3 out of 4 cases of polymyositis. A vermicular image was observed burrowing into the muscles, which head a "worm eaten" appearance. This series is too small to allow definitive conclusions, but this appearance is very different from the other features observed in muscular pathology such as myopathy or neurogenic amyotrophy. A "combed" appearance of the paravertebral muscles was also observed in 4 cases of rheumatoid pelvispondylitis. The authors also present several examples which illustrate the value of the CT scan in focal disease (lipomas, hydatid cysts, muscle angiomas).

Arthritis, Rheumatoid↗