نتایج جستجو برای: dmd

تعداد نتایج: 4377  

Journal: :Ophthalmology 2007
Roselie M H Diederen Ellen C La Heij Alfons G H Kessels Fleur Goezinne Albert T A Liem Fred Hendrikse

PURPOSE To determine the effect of duration of macular detachment (DMD) on visual acuity (VA) in patients with macula-off rhegmatogenous retinal detachment (RD). DESIGN Retrospective observational case series. PARTICIPANTS Two hundred two consecutive patients (202 eyes) with primary uncomplicated macula-off RD, preoperative VA of 10/100 or worse, a precise history of when macular function w...

2018
Görkem Güngör Melek Demir Gökhan Aydın Bülent Yapıcı Banu Atalar Enis Özyar

PURPOSE Stereotactic body radiotherapy (SBRT) is an established treatment technique in the management of medically inoperable early stage non-small cell lung cancer (NSCLC). Different techniques such as volumetric modulated arc (VMAT) and three-dimensional conformal arc (DCA) can be used in SBRT. Previously, it has been shown that VMAT is superior to DCA technique in terms of plan evaluation pa...

2016
Lauren Bogue Sindhu Ramchandren

Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 20031; women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for D...

2016
Laura J. Olivieri Peter Kellman Robert J. McCarter Russell R. Cross Michael S. Hansen Christopher F. Spurney

BACKGROUND Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable onset and progression. Currently we lack objective markers of the effect of therapies targeted towards preventing progression of subclinical cardiac disease. Thus, our aim was to compare the ability of native T1 and extracellular volume (ECV) measurements to differentiate...

Journal: :Circulation. Cardiovascular imaging 2015
Marie-Annick Clavel Francesca Mantovani Joseph Malouf Hector I Michelena Ori Vatury Mothilal Sonia Jain Sunil V Mankad Rakesh M Suri Maurice Enriquez-Sarano

BACKGROUND Fibro-elastic deficiency (FED) and diffuse myxomatous degeneration (DMD) are phenotypes of degenerative mitral valve disease defined morphologically. Whether physiological differences in annular and valvular dynamics exist between these phenotypes remains unknown. METHODS AND RESULTS We performed triple quantitation of cardiac remodeling and of mitral regurgitation severity and of ...

Journal: :The European respiratory journal 2014
Véronique Nève Jean-Louis Edmé Régis Matran

In Duchenne muscular dystrophy (DMD), progressive weakness of the respiratory muscles leads to a restrictive ventilatory defect contributing to early morbidity and mortality. We have recently shown by a longitudinal assessment of vital capacity and sniff nasal inspiratory pressure (SNIP) in young DMD children that SNIP was an earlier marker of decline in respiratory muscle strength than vital c...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Zheng-Dong Zhao Wen Z Yang Cuicui Gao Xin Fu Wen Zhang Qian Zhou Wanpeng Chen Xinyan Ni Jun-Kai Lin Juan Yang Xiao-Hong Xu Wei L Shen

The homeostatic control of body temperature is essential for survival in mammals and is known to be regulated in part by temperature-sensitive neurons in the hypothalamus. However, the specific neural pathways and corresponding neural populations have not been fully elucidated. To identify these pathways, we used cFos staining to identify neurons that are activated by a thermal challenge and fo...

2011
CHRISTOPHER F. SPURNEY

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and occurs in 1 in 3500 male births. Improved survival due to improvements in clinical care of the musculoskeletal and respiratory systems has led to an increased incidence of cardiomyopathy. Cardiac-related deaths are now seen in approximately 20% of DMD patients. Our current understanding of DMD cardiom...

2017
Jonathan H. Soslow Larry W. Markham W. Bryan Burnette Cristi L. Galindo Igor Feoktistov Frank J. Raucci Bruce M. Damon Douglas B. Sawyer Sergey Ryzhov

Duchenne muscular dystrophy (DMD) is an X-linked disorder that leads to cardiac and skeletal myopathy. The complex immune activation in boys with DMD is incompletely understood. To better understand the contribution of the immune system into the progression of DMD, we performed a systematic characterization of immune cell subpopulations obtained from peripheral blood of DMD subjects and control...

2014
Sean C. Forbes Rebecca J. Willcocks William T. Triplett William D. Rooney Donovan J. Lott Dah-Jyuu Wang Jim Pollaro Claudia R. Senesac Michael J. Daniels Richard S. Finkel Barry S. Russman Barry J. Byrne Erika L. Finanger Gihan I. Tennekoon Glenn A. Walter H. Lee Sweeney Krista Vandenborne

INTRODUCTION Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits. However, these functional declines are often not able to be quantified in clinical trials for DMD until after age 7. In this study, we hypothesized that (1)H2O T2 derived using (1)H-MRS and MRI-T2 will be sensitive to muscle involvement at a young age (5-7 years) consistent with...

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