نتایج جستجو برای: dmd
تعداد نتایج: 4377 فیلتر نتایج به سال:
Purpose To report two cases of spontaneous Descemet's membrane detachment (DMD) and dehiscence following penetrating keratoplasty (PK). Case Reports Spontaneous DMD or Descemet's membrane (DM) dehiscence following PK is a rare occurrence. Here, we describe two cases of such an occurrence following PK arising from the graft-host interface. A possible causative relation between DMD/dehiscence a...
Background Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Although BMD patients present milder skeletal muscle involvement, they have been shown to present more advanced cardiomyopathy than DMD. Female DMD/BMD carriers are usually free of skeletal muscle symptoms but they may a...
This report describes our first experience with a clinically important true false positive neonatal screening test for Duchenne muscular dystrophy (DMD). Neonatal screening for DMD began as a pilot programme in Manitoba on 1 January 1986 by analysis of creatine kinase (CK) activity in dried filter paper blood spots. To date, all except two males with positive initial and follow up neonatal CK s...
There is growing interest in the development of transient, multiphysics models for nuclear reactors and analysis uncertainties those models. Reduced-order (ROMs) provide a computationally cheaper alternative to compute uncertainties. However, application ROMs transient systems remains challenging task. Here, 1-D, twogroup, time-dependent, diffusion model was used explore potential three differe...
Duchenne muscular dystrophy (DMD) leads to structural heart disease, including dilated cardiomyopathy, in 90% of patients >18 years of age. Despite the ubiquity of cardiomyopathy associated with DMD, ventricular aneurysms in these patients have rarely been reported. We present a case of a basal inferoposterior aneurysm of the left ventricle in a 23-year-old male patient with DMD.
This study examined Three Wishes (a projective technique commonly used with children) in boys with Duchenne muscular dystrophy (DMD), a fatal, progressive illness (n = 74). A reliable and parsimonious scoring system was developed to code wish type. Probands' responses were compared with unaffected siblings (n = 32) and a male comparison group (n = 43). Contrary to what was expected, the DMD gro...
Quality computational description of metalloproteins is a great challenge due to the vast span of time- and lengthscales characteristic of their existence. We present an efficient new method that allows for robust characterization of metalloproteins. It combines quantum mechanical (QM) description of the metal-containing active site, and extensive dynamics of the protein captured by discrete mo...
BACKGROUND Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS Two sporadic Ch...
Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease affecting 1 in 3,500 live male births. It is an X-linked recessive disease caused by a defective dystrophin gene. The disease is characterized by progressive limb weakness, respiratory and cardiac failure, and premature death. Fibrosis is a prominent pathological feature of muscle biopsies from patients with DMD. It dir...
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