Muscular Dystrophy Duchenne Diagnosis
Mostrando 1-12 de 42 artigos, teses e dissertações.
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1. Diagnóstico Molecular Diferencial das Principais Doenças Neuromusculares Degenerativas em Crianças da População do Rio de Janeiro / Molecular Differential Diagnosis of Main Neuromuscular Degenerative Disease in Children Population of Rio de Janeiro
Dentre o grande número de doenças de origem genética conhecidas e que afetam os seres humanos, existem algumas que são degenerativas e que acometem tecidos importantes. Neste trabalho foram estudadas as doenças neuromusculares mais freqüentes na população mundial: Distrofia Muscular de Duchenne (DMD) e Becker (DMB) e Atrofia Muscular Espinhal (AME).
Publicado em: 2009
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2. Influência da distrofia muscular do Golden Retriever (GRMD) na viabilidade espermática e nas características morfológicas do aparelho reprodutivo masculino / Influence of Golden Retriever muscular dystrophy (GRMD) on sperm viability and on morphologic characteristics of the male reproductive tract
Muscular dystrophies constitute a group of diseases characterized by progressive and irreversible muscle degeneration. Duchenne´s Muscular Dystrophy (DMD) is a lethal myopathy caused by dystrophin deficiency, a muscular cell cytoskeleton protein. The dystrophin gene have recessive characteristic and is located in the p21 portion of the X chromosome. Advance
Publicado em: 2009
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3. Eficacia do metodo Meir Schneider de autocuidado em pessoas com distrofias musculares progressivas : ensaio clinico fase II
People affected by Progressive Muscular Dystrophy (PMD) live on the edge of the medical knowledge and are constantly waiting for new research results on prevention, rehabilitation and even the possible cure of those who carry the trait. The efficacy of the Meir Schneider Self-healing Method is discussed in this context, based on a phase II clinical trial wit
Publicado em: 1999
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4. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
Immunoblot characterization and immunofluorescence localization of dystrophin are presented for 76 human patients with various neuromuscular diseases. Normal dystrophin (shown by immunoblotting) was invariably visualized as a continuous, peripheral membrane immunostaining of myofibers. Biochemical abnormalities of dystrophin (either lower or higher molecular
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5. Erythrocyte membrane abnormalities in Duchenne muscular dystrophy monitored by saturation transfer electron paramagnetic resonance spectroscopy.
Saturation transfer electron paramagnetic resonance and the spin label 2-(3-carboxypropyl)-4,4-dimethyl-2-tridecyl-3-oxazolidinyloxyl were used to study erythrocytes from patients with Duchenne muscular dystrophy or Becker syndrome and from age-matched normal boys. There were significant differences in the spectral intensities of erythrocytes from Duchenne p
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6. Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.
Linkage studies have been carried out in 20 families segregating for Duchenne muscular dystrophy and eight prenatal diagnoses performed, including six first trimester diagnoses and one twin pregnancy. The results of the restriction fragment length polymorphism (RFLP) analysis suggest that not all the possible RFLPs need to be used and a strategy for carrier
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7. The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.
A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intraf
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8. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and
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9. Improved diagnosis of Duchenne/Becker muscular dystrophy.
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10. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy.
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11. Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy.
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12. Duchenne muscular dystrophy in one of monozygotic twin girls.
Monozygotic twin girls are reported, one of whom has the typical clinical features of Duchenne muscular dystrophy despite a normal female karyotype. Although certain features of the biopsy were atypical, the clinical diagnosis was supported by persistent markedly raised blood creatine kinase levels and findings typical of DMD on electromyography and magnetic