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Biomedical subjects

C Desnuelle

Publications and source records attributed to C Desnuelle.

85 records · Page 5Linked to original sources
PubMed1984

[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome].

A 59 year old man had a 20 year history of proximal muscle weakness and proximal and distal amyotrophy with areflexia and vocal cords paralysis. The EMG and muscular biopsy were compatible with a chronic spinal atrophy. The sister of this patient was said to be suffering from a similar syndrome. The only similar cases published are the cases inherited as an autosomal dominant trait reported by Young and Harper. They are differentiated by the distal predominance of the amyotrophy. These cases can be compared with the rare cases of hereditary laryngeal palsy which have also an autosomal dominant inheritance.

Adult↗
PubMed1983

Complete monitoring of the purification of the plasma membrane from rabbit skeletal muscle.

A fast and reproducible purification procedure for rabbit skeletal muscle plasma membrane is described. Each step was monitored by determination of tetrodotoxin, ouabain and insulin receptors. A ouabain-sensitive K+-stimulated and a Ca2+-dependent phosphatases, probably identical to, respectively the (Na+-K+) and Ca2+-ATPases, were also evaluated. All plasma membrane receptors and the ouabain-sensitive activity accumulated in the lightest fraction separated by sucrose gradient centrifugation (peak at 18% sucrose; purification from crude homogenate, 30-fold).

Animals↗
PubMed1982

[Congenital paramyotonia, adynamia episodica hereditaria, or familial periodic paralysis with paramyotonia and hyperkalemia (author's transl)].

Case-reports of eleven patients diagnosed either as Eulenburg paramyotonia or Gamstorp adynamia episodica hereditaria are reviewed. The connections between both conditions are discussed. The clinical pictures are similar, with predominance of either paramyotonia or adynamia. In both conditions, hyperkaliemia is present and potassium loading may be followed by clinical exacerbation. Electromyographic and histological findings are comparable. Paramyotonia and adynamia probably result from the same physiopathological mechanism : hyperkaliemia modifies the cell membrane permeability to sodium and potassium, leading to depolarization with initial hyperexcitability and subsequent inexcitability. We believe that Eulenburg paramyotonia and Gamstorp adynamia episodica hereditaria are two manifestations of the same condition which could be termed familial periodic paralysis with paramyotonia and hyperkaliemia.

Adolescent↗
PubMed1982

Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment.

TWO SODIUM TRANSPORT SYSTEMS HAVE BEEN ANALYZED IN THIS WORK: the voltage-sensitive sodium channel and the (Na(+), K(+)) ATPase pump. The sodium channel has been studied using a tritiated derivative of tetrodotoxin; the sodium pump has been studied using tritiated ouabain. Properties of interaction of tritiated tetrodotoxin and of tritiated ouabain with their respective receptors were observed in normal human skeletal muscle and in muscles of patients with myotonic muscular dystrophy and with lower motor neuron impairment. Levels of sodium pump and of sodium channels were measured at different stages of membrane purification. Microsomal fractions of normal human muscle have maximal binding capacities for tetrodotoxin of 230 fmol/mg of protein and of 7.4 pmol/mg of protein for ouabain. Dissociation constant for the complexes formed by the tetrodotoxin derivative and by ouabain with their respective receptors were 0.52 nM and 0.55 muM, respectively. In muscles from patients with myotonic muscular dystrophy, the maximal binding capacity for tetrodotoxin, i.e., the number of Na(+) channels was found to be very similar to that found for normal muscle. The maximal binding capacity for ouabain, i.e., the number of Na(+) pumps was three- to sixfold lower than in normal muscle. Dissociation constants for the complexes formed with the tetrodotoxin derivative and with ouabain were the same as for normal muscle. In muscles from patients with lower motor nerve impairment, the maximal binding capacities for tetrodotoxin and for ouabain were twice as high as in normal muscle. Again, dissociation constants for the complexes formed with the tetrodotoxin derivative and with ouabain were nearly unchanged as compared with normal muscle. These results suggest that sodium transport systems involved in the generation of action potentials and/or in the regulation of the resting potential are altered both in myotonic muscular dystrophy and in lower motor neuron impairment.

Adult↗
PubMedDate not supplied

[Ptosis and asthenia manifesting a mitochondrial myopathy].

We report a case of mitochondrial myopathy discovered in a 55-year old woman who was being investigated for the cause of her asthenia. Physical examination showed ptosis of the upper eyelid and proximal muscle deficit. Histological examination of a muscle biopsy disclosed rare fibres with mitochondrial aggregates. Biochemical exploration of muscle tissue revealed a double enzyme deficit involving complexes I and IV of the respiratory chain. Clinical improvement was obtained after the patient was put on coenzyme Q10. We conclude that a diagnosis of mitochondrial myopathy must be considered in patients, including middle-aged adults, presenting with muscular asthenia.

Asthenia↗
PubMedDate not supplied

[Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet].

A 21-year old women with rhizomelic muscular deficit and signs of hypercapnia developed acute respiratory failure. Laboratory tests revealed high creatine kinase activity, and electromyograms showed myogenic patterns with a few myotonic discharges. Biopsy of the quadriceps muscle elicited major vacuolar myopathy with glycogen overload. Acid maltase activity was undetectable in muscular tissue. After 7 months on high-protein diet (1540 calories, 37% proteins) there was no clinical or biochemical improvement. The other published cases of acid maltase deficiency treated with high-protein diet are discussed.

Adult↗
PubMedDate not supplied

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy.

Myotonic muscular dystrophy, or Steinert disease, is a dominantly inherited disease of muscle which occurs with a frequency of between 1 in 18,000 and 1 in 7,500 people (refs 1, 2). One of the prominent clinical manifestations is muscle stiffness and difficulty in relaxation of muscles after voluntary contractions. Electrophysiological signs of myotonia include increased excitability with a tendency to fire trains of repetitive action potentials in response to direct electrical and mechanical stimulation. Most experimental and clinical data suggest that myotonic muscular dystrophy arises from genetically induced alterations of the muscle membrane. We show here for the first time that muscle membranes of patients with myotonic muscular dystrophy contain the receptor for apamin, a bee venom toxin known to be a specific and high-affinity blocker of one class of Ca2+-activated K+ channels in mammalian muscle. The apamin receptor is completely absent in normal human muscle as well as in muscles of patients with spinal anterior horn disorders.

Action Potentials↗
PubMedDate not supplied

[Methodology of clinical studies of myorelaxants].

Myorelaxants, a specific pharmacologic group, are often prescribed. However, for many molecules, therapeutic trial methodology is not adapted. A review of the fundamental aspects of pharmacological trial clearly show a need for diagnosis and inclusion criteria, definition and validation for methods of assessment, analysis of the dose-response curve on term of effectiveness according to the pharmacologic and clinically established rules. Rational prescription of myorelaxants will arise from this principles.

Clinical Trials as Topic↗
PubMedDate not supplied

[Peripheral neuropathy and cyclosporin. Apropos of 2 cases].

We report two cases of peripheral neuropathy arose during treatment with cyclosporine. The first observation was in a 24 year-old female treated because of a recent diabetes mellitus, the second in a 52 year-old male whose treatment was given after a cardiac transplantation. Chronology, clinical presentation and morphological findings on nerve biopsy were very close in both cases ans intrinsic imputability was stated as "possible" according to the method used to assess unexpected or toxic drug reaction by the French Regional Drug Monitoring Centers. It remains to confirm with similar reports the putative part played by cyclosporine as strongly suggested in ours.

Adult↗
PubMedDate not supplied

[Surface membrane in skeletal muscle : current biochemical approach (author's transl)].

Three kinds of membranes were found to be present in the skeletal muscle : the plasma membrane, the T-System membrane and the Sarcoplasmic Reticulum membrane. Although they are in continuity, they have quite different properties. Isolation of Sarcoplasmic Reticulum membrane is technically easy. On the other hand, the plasma and T-System membrane isolation has been found to be more difficult. The various methods of purification of these last two components of the muscle fiber are reviewed as well as the biochemical markers allowing their characterization.

Adenosine Triphosphatases↗
PubMedDate not supplied

[Relationships between rhizomelic pseudo-polyarthritis and mitochondrial myopathy. 24 cases].

OBJECTIVES: Diagnosis of polymyalgia rheumatica requires the elimination of other inflammatory diseases due to the lack of a specific diagnostic criteria. Since results of muscle biopsy have been considered non-specific, we evaluated the full spectrum of histological, histochemical and biochemical data observed in 24 patients with suspected polymyalgia rheumatica. METHODS: From January 1989, the diagnosis of polymyalgia rheumatica was suspected in 24 patients (4 males, 20 females; mean age 67.8 years, range 50-88) hospitalized in our unit for inflammatory joint and muscle pain with a current duration of 6-30 months. Muscle biopsies were obtained in each case. RESULTS: Based on the histological, histo-enzymatic, ultrastructural and biochemical analyses, 19 patients fulfilled the criteria defining mitochondrial myopathies. After favourable outcome (reduced pain, involution of biochemical inflammatory syndrome) following prednisone therapy (0.5 mg/kg/day) a second muscle biopsy revealed identical abnormalities. CONCLUSION: These muscular diseases have been described mainly as hereditary encephalo-myopathies, but in our series the mitochondrial myopathy may have preceded the polymyalgia rheumatica or been acquired, aggravating the inflammatory process. Muscle biopsy might act as a referee for diagnosis.

Aged↗