Due to frame-shifting mutations in the DMD gene that cause dystrophin deficiency, Duchenne muscular dystrophy (DMD) patients suffer from lethal muscle degeneration. In contrast, mutations in the allelic Becker muscular dystrophy (BMD) do not disrupt the translational reading frame, resulting in a less severe phenotype. In this study, we explored a genetic therapy aimed at restoring the reading ...

Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% have point mutations in one or more of the 79 exons of the dystrophin gene. Most clinical genetics laboratories test for d...

BACKGROUND Descemet's membrane detachment (DMD) is one of the most serious complications of modern cataract surgery. We present an alternative technique for management of DMD with a review of the literature on current strategies for the treatment of DMD. CASE PRESENTATION A 74-year-old woman developed DMD after phacoemulsification and failed the first descemetopexy with air tamponade. An alte...

We herein report two cases of occult Descemet's membrane detachment (DMD) after phacoemulsification surgery, which initially presented as persistent corneal edema and had been considered as pseudophakic bullous keratopathy. The patients were thus scheduled to receive corneal transplantation. For Case 1, DMD was incidentally detected by slit-lamp examination 2 months postoperatively, only when p...

We investigated the consequences of a progressive damage to the muscular system on the organization of anticipatory postural adjustments (APA) in children with Duchenne muscular dystrophy (DMD). We used a bimanual load-lifting task requiring the stabilization of the forearm position despite its voluntary or imposed unloading. Eight children with DMD from 4 to 11 years of age were compared to ei...

Extensive Descemet membrane detachment (DMD) is a rare complication of intraocular surgery that can lead to corneal decompensation. Although DMD may resolve spontaneously, surgical repair frequently is required. The diagnosis may be difficult because corneal edema can obscure visualization of the Descemet membrane (DM). Ultrasonographic biomicroscopy (UBM) has been the standard for imaging DMD ...

The absence of the cytoskeletal protein dystrophin results in Duchenne muscular dystrophy (DMD). The utrophin protein is the best candidate for dystrophin replacement in DMD patients. To obtain therapeutic levels of utrophin expression in dystrophic muscle, we developed an alternative strategy based on the use of artificial zinc finger transcription factors (ZF ATFs). The ZF ATF 'Jazz' was rece...

Growth rate was assessed in 187 boys affected with Duchenne muscular dystrophy (DMD) and bone age in 127 among them. Patients' heights were compared with their normal sibs, with expected stature according to midparents' stature and with normal Brazilian children of comparable age. The results showed that DMD boys have a normal length and weight at birth, but a delayed growth starting during the...

Although sexual dimorphism is ubiquitous in animals, the means by which sex determination mechanisms trigger specific modifications to shared structures is not well understood. In C. elegans, tail tip morphology is highly dimorphic: whereas hermaphrodites have a whip-like, tapered tail tip, the male tail is blunt-ended and round. Here we show that the male-specific cell fusion and retraction th...

High-fidelity large-eddy simulations are suitable to obtain insight into the complex flow dynamics in extended wind farms. In order better understand these dynamics, we use dynamic mode decomposition (DMD) analyze and reconstruct field large-scale numerically simulated farms by (LES). Different farm layouts considered, find that a combination of horizontal vertical staggering leads improved per...