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Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photoreceptors. ESCS is an autosomal recessive retinopathy in which(More)
PURPOSE To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor. METHODS Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied clinically, with visual function tests, including rod and cone(More)
VERITAS is an array of four identical telescopes designed for detecting and measuring astrophysical gamma rays with energies in excess of 100 GeV. Each telescope uses a 12 m diameter reflector to collect Cherenkov light from air showers initiated by incident gamma rays and direct it onto a 'camera' comprising 499 photomultiplier tubes read out by flash(More)
Achieving sufficient concentrations of antituberculosis (TB) drugs in pulmonary tissue at the optimum time is still a challenge in developing therapeutic regimens for TB. A physiologically based pharmacokinetic model incorporating a multicompartment permeability-limited lung model was developed and used to simulate plasma and pulmonary concentrations of(More)
BACKGROUND U.S. state AIDS Drug Assistance Programs (ADAPs) are federally funded to provide antiretroviral therapy (ART) as the payer of last resort to eligible persons with HIV infection. States differ regarding their financial contributions to and ways of implementing these programs, and it remains unclear how this interstate variability affects HIV(More)
BACKGROUND HIV-infected individuals are at increased risk of right and left heart dysfunction. N-terminal-pro-brain natriuretic peptide (NT-proBNP), a marker of cardiac ventricular strain and systolic dysfunction, may be associated with all-cause mortality in HIV-infected women. The aim of this study was to determine if elevated levels of NT-proBNP is(More)
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INTRODUCTION The clinical behavior of desmoid tumors can be unpredictable, particularly when they arise in the ante-partum or post-partum period. We present a case of an intra-abdominal desmoid tumor that was identified in the ante-partum period, progressed rapidly in the post-partum period, and was subsequently resected. PRESENTATION OF CASE The patient(More)
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19(More)
Myoelectric control makes use of the electrical signals created by the body's muscles as an input to control a device, such as a prosthetic limb or powered orthosis. While myoelectric prostheses have been in use and under constant R&D for almost 50 years, they are not without problems. For myoelectric control to be effective the user has to learn how to(More)