نتایج جستجو برای: dmd
تعداد نتایج: 4377 فیلتر نتایج به سال:
Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscul...
INTRODUCTION Duchenne Muscular Dystrophy (DMD) is characterized by progressive muscle weakness that can lead to disability. Owing to functional difficulties faced by individuals with DMD, the use of assistive technology is essential to provide or facilitate functional abilities. In DMD, cardiac autonomic dysfunction has been reported in addition to musculoskeletal impairment. Consequently, the ...
Antisense-mediated modulation of splicing is one of the few fields where antisense oligonucleotides (AONs) have been able to live up to their expectations. In this approach, AONs are implemented to restore cryptic splicing, to change levels of alternatively spliced genes, or, in case of Duchenne muscular dystrophy (DMD), to skip an exon in order to restore a disrupted reading frame. The latter ...
BACKGROUND International care guidelines for Duchenne muscular dystrophy (DMD) were published in 2010, but compliance in clinical practice is unknown. OBJECTIVE The objective of our study was to compare real-world DMD care in Germany, Italy, the UK, and the US with the clinical recommendations. METHODS DMD patients from Germany, Italy, the UK, and the US were identified through Translationa...
OBJECTIVE Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. METHODS A fluorometric assay based upon the...
This work develops a parallelized algorithm to compute the dynamic mode decomposition (DMD) on a graphics processing unit using the streaming method of snapshots singular value decomposition. This allows the algorithm to operate efficiently on streaming data by avoiding redundant inner-products as new data becomes available. In addition, it is possible to leverage the native compressed format o...
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease for which there is no cure and limited treatment options. Prednisone is currently the first line treatment option for DMD and studies have demonstrated that it improves muscle strength. Although prednisone has been used for the treatment of DMD for decades, the mechanism of action of this drug remains unclear. Recent studies hav...
BACKGROUND Most of Multiple Sclerosis (MS) patients undergo disease modifying drug (DMD) therapy at childbearing age. The objective of this prospective, collaborative study, was to assess outcomes of pregnancies fathered by MS patients undergoing DMD. METHODS Structured interviews on pregnancies fathered by MS patients gathered in the Italian Pregnancy Dataset were collected; pregnancies were...
For the past six years, Digital Light Processing technology from Texas Instruments has made significant inroads in the projection display market. With products enabling the world’s smallest data and video projectors, HDTVs, and digital cinema, DLP technology is extremely powerful and flexible. At the heart of these display solutions is Texas Instruments Digital Micromirror Device (DMD), a semic...
Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain ...
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