摘要:

AbstractThe authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between 3 to 12 years. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that of the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 years. The serum creatine kinase activity is markedly high in the first stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from one sibling to another, and from one family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.

ISSN:0148-639X    

DOI:10.1002/mus.880060702

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTo test the hypothesis that the genetic lesion causing muscular dystrophy might be reflected in an abnormal intracellular elemental content, the elemental content of individual cardiac and skeletal muscle fibers in 50‐day‐old male control and cardiomyopathic BIO 53.58 hamsters was determined. The technique of electron probe x‐ray microanalysis of freeze‐dried tissue was employed. No electrolyte content differences were found between control and diseased animals for nuclei, myofibrillar cytoplasm, or mitochondrially‐enriched cytoplasm of cardiac myocytes. Sulfur was elevated in dystrophic cardiac myocytes and was the only element significantly different in heart tissue of control and cardiomyopathic animals. Sulfur was also elevated in dystrophic soleus muscle fibers. The pattern of electrolyte content of these cells reflected a mixture of normal cells and damaged cells with altered electrolyte content. In this hamster model, alteration of electrolyte content of myocytes appears to be a result of the disease process and not an inherent characteristic of muscular dystrohy. The elevated sulfur in dystrophic hamster myocytes reflects a biochemical lesion which deserves furt

ISSN:0148-639X    

DOI:10.1002/mus.880060703

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractCores were produced in type 1 muscle fibers by tenotomy of rat soleus muscle. The morphology and histochemistry of the muscle fibers was established by light microscopy on cryostat sections stained for hematoxylin‐eosin or myofibrillar ATPase and on semithin plastic sections. The ultrastructure was visualized on thin plastic sections. On 6 μm of freeze‐dried cryosections, energy dispersive X‐ray microanalysis was performed on muscle fibers visualized in the scanning transmission mode of electron microscopy. This procedure permitted quantification of different intracellular elements such as sodium (Na), chlorine (CI), potassium (K), magnesium (Mg), sulphur (S), and phosphorus (P). Spectra from core fibers could easily be compared with those of normal fibers. A conspicuous finding was an increased Na and CI content and a decreased K content in core fibers compared to normal fibers. It is known that core fibers produced after tenotomy exhibit distinct changes in plasma membrane morphology similar to that found in Duchenne muscular dystrophy (DMD). The results in this study point to a change in normal intracellular ion composition which could be a result of a deficiency of mechanisms maintaining normal membrane ion gra

ISSN:0148-639X    

DOI:10.1002/mus.880060704

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractLumbosacral spinal roots and peroneal nerves in dystrophic and control mice were crushed and allowed to regenerate. Six weeks after crush injury, the dystrophic roots no longer showed the typical groups of unensheathed axons that characterize the uncrushed roots. Thus, the location of this ensheathment defect in the spinal roots cannot be the exclusive mechanism responsible for its development. Crush injury and regeneration also tended to correct a second abnormality in the peripheral nervous system of dystrophic mice: the discontinuities in the Schwann cell basal laminas. Because the regenerated nerves contained increased amounts of collagen, the results of this study support the evidence from tissue culture experiments that the extracellular matrix may be involved in the pathogenesis of these disorders. However, the outcome of the present in vivo experiments indicates that genetically normal fibroblasts are not required for this change to occur.

ISSN:0148-639X    

DOI:10.1002/mus.880060705

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThe electrodiagnostic findings in 51 patients with monoclonal serum proteins of different etiologies and peripheral neuropathies are analyzed and the findings in an additional 10 patients with multiple myeloma are discussed. The nine patients with monoclonal gammopathy of undetermined significance had electrodiagnostic patterns consistent with either predominant axonal degeneration or demyelination. Almost all 15 patients with osteosclerotic myeloma had evidence of a demyelinating neuropathy. The 27 patients with primary systemic amyloidosis almost always displayed evidence of an axonal neuropathy with superimposed carpal tunnel syndrome in some cases. The 10 patients with multiple myeloma had heterogeneous findings. Electrodiagnostic studies can aid in classifying these patients and suggest the likelihood of a specific etiology.

ISSN:0148-639X    

DOI:10.1002/mus.880060706

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractUsing the skinned fiber preparation, the response to caffeine was studied on the skeletal muscle of malignant hyperthermia or other neuromuscular diseases. The sensitivity to caffeine was increased in the muscle of malignant hyperthermia. The sensitivity also was increased in Duchenne muscular dystrophy or asymptomatic patients with raised serum creatine kinase activity. Judging from the interaction between caffeine and the contractile system, the abnormal response originated from the sarcoplasmic reticulum in malignant hyperthermia. In Duchenne muscular dystrophy, the contractile system also might be involved in the increased sensitivity. Since the disease spectrum presenting abnormal responses is broad, it is suggested that muscle fibers become sensitive to caffeine when they are degenerating or regenerating.

ISSN:0148-639X    

DOI:10.1002/mus.880060707

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractSerial motor conduction velocities and distal motor latencies were determined in two pairs of dizygotic twins, each born to a parent with dominant hypertrophic neuropathy of the Charcot‐Marie‐Tooth type (HMSN‐I). Motor nerve conduction velocities could not distinguish between the normal and affected twin of the first pair studied at birth. Distal motor latency in the affected twin at birth, however, was border‐line prolonged. The affected twin of the second pair had slowed motor velocities at age 17 months, but the extent of conduction slowing had not yet fully developed. Studies of these patients and the affected family members showed that maximal slowing of motor nerve conduction velocities evolved over the first 3–5 years of life in HMSN‐I. Prolongation of distal motor latency may be the earliest abnormality observed in HMSN‐I and this abnormality evolves over 10

ISSN:0148-639X    

DOI:10.1002/mus.880060708

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractProtein synthesis in soleus and extensor digitorum logus (EDL) muscles was measured in vitro to test the hypothesis that the lack of muscle protein accumulation in dystrophic conditions could be caused by a reduced sensitivity to insulin. We demonstrate that physiological insulin concentrations stimulate protein synthesis in soleus muscles from normal mice but not from muscles obtained from dystrophic (dy) animals. The difference is lost at very high insulin concentrations (1 μM) and could not be shown at any concentration with EDL muscles. These results, together with the reported reduced inhibitory effect of insulin on protein synthesis in dystrophic hamsters and on protein breakdown in dystrophic mice, suggest, that protein metabolism in certain muscles from dystrophic animals may be less responsive to the anabolic effects of insulin

ISSN:0148-639X    

DOI:10.1002/mus.880060709

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

ISSN:0148-639X    

DOI:10.1002/mus.880060710

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

ISSN:0148-639X    

DOI:10.1002/mus.880060712

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY