نتایج جستجو برای: becker muscular dystrophy
تعداد نتایج: 55949 فیلتر نتایج به سال:
We present a case of a 39-year-old man with Becker muscular dystrophy and severe congestive cardiac failure. Cardiac magnetic resonance imaging revealed subendocardial late gadolinium enhancement, similar to that seen in myocardial infarction. He had no risk factors for atherosclerotic coronary artery disease and coronary angiography was normal. We propose that regional subendocardial myocardia...
1. Emery A. Duchenne muscular dystrophy or Meryon’s disease. Lancet 2001;357:1529. 2. Mavrogeni S, Spargias C, Bratis C, et al. Myocarditis as a precipitating factor for heart failure: evaluation and 1-year follow-up using cardiovascular magnetic resonance and endomyocardial biopsy. Eur J Heart Fail 2011;13:830–7. 3. Bobo JK, Kenneson A, Kolor K, Brown MA. Adherence to American Academy of Pedia...
Effective planning of clinical trials requires an appropriate number of patients who fulfil given inclusion criteria. In the case of so called "orphan" diseases, such as Duchenne and Becker muscular dystrophy (DMD/BMD), the number of suitable patients within one country is usually limited. We developed a detailed registry of Czech and Slovak DMD/BMD patients which may contribute to cooperation ...
BACKGROUND Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. METHODS It is a retrospective rev...
BACKGROUND This report focuses on the common protocol developed by the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) for population-based surveillance of Duchenne and Becker muscular dystrophy (DBMD) among 4 states (Arizona, Colorado, Iowa, and New York). METHODS The network sites have developed a case definition and surveillance protocol along with software appli...
Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy findings). In these 10 sibships there had been 11 affected subjects, significantl...
In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy. Briefly, freshly isolated skeletal muscle biopsies (termed skeletal muscle explants) from patients with Duchenne or Becker muscular dystrophy were maintained under defined cell culture conditions for a 24-h period in...
From the point of view of genetic counselling carrier detection is most important in X-linked disorders. Okinaka et al. (1959) were the first to employ the serum level of creatine kinase to detect female carriers of X-linked Duchenne muscular dystrophy. Since then many investigators have confirmed the usefulness and reliability of this test. So far results on over 200 carriers have been reporte...
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