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DMD

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7 papers 0 to 25 followers
By Stam Kapetanakis Consultant cardiologist sub specialist in cardiac imaging and heart failure
https://www.readbyqxmd.com/read/25008475/patterns-of-late-gadolinium-enhancement-in-duchenne-muscular-dystrophy-carriers
#1
Vincenzo Giglio, Paolo Emilio Puddu, Giovanni Camastra, Stefano Sbarbati, Sabino Walter Della Sala, Alessandra Ferlini, Francesca Gualandi, Enzo Ricci, Federico Sciarra, Gerardo Ansalone, Marco Di Gennaro
BACKGROUND: This study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that myocardial fibrosis, assessed by late gadolinium enhancement (LGE), might be similarly accounted for in DMDc and gender and age-matched controls. METHODS: Thirty DMDc patients had CMR and genotyping with 37 gender and age-matched controls...
2014: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/25037084/duchenne-and-becker-muscular-dystrophies
#2
REVIEW
Kevin M Flanigan
The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac care, attention to respiratory function, and judicious use of spinal correction surgery have led to increased survival in the DMD population. Meanwhile, advances in molecular therapeutics have led to promising therapies that are in or are entering clinical trials. An understanding of the dystrophinopathies, and recent advances in their molecular diagnosis and treatment, is of benefit to practicing neurologists...
August 2014: Neurologic Clinics
https://www.readbyqxmd.com/read/25045366/myocardial-atrophy-in-children-with-mitochondrial-disease-and-duchenne-muscular-dystrophy
#3
Tae Ho Lee, Lucy Youngmin Eun, Jae Young Choi, Hye Eun Kwon, Young-Mock Lee, Heung Dong Kim, Seong-Woong Kang
PURPOSE: Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD. METHODS: We retrospectively evaluated the echocardiographic data of 90 children with MD and 42 with DMD...
May 2014: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/25056178/outcome-reliability-in-non-ambulatory-boys-men-with-duchenne-muscular-dystrophy
#4
Anne M Connolly, Elizabeth C Malkus, Jerry R Mendell, Kevin M Flanigan, J Philip Miller, Jeanine R Schierbecker, Catherine A Siener, Paul T Golumbek, Craig M Zaidman, Craig M Mcdonald, Linda Johnson, Alina Nicorici, Peter I Karachunski, John W Day, Jason M Kelecic, Linda P Lowes, Lindsay N Alfano, Basil T Darras, Peter B Kang, Janet Quigley, Amy E Pasternak, Julaine M Florence
INTRODUCTION: Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial. METHODS: Non-ambulatory boys/men with DMD (N = 91; 16.7 ± 4.5 years of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured...
April 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25085262/regional-circumferential-strain-is-a-biomarker-for-disease-severity-in-duchenne-muscular-dystrophy-heart-disease-a-cross-sectional-study
#5
Kan N Hor, Narayan Kissoon, Wojciech Mazur, Resmi Gupta, Richard F Ittenbach, Hussein R Al-Khalidi, Linda H Cripe, Subha V Raman, Michael D Puchalski, William M Gottliebson, D Woodrow Benson
The aim of this study is to determine the contribution of strain ε cc in mid left ventricular (LV) segments to the reduction of composite LV circumferential ε cc in assess severity of duchenne muscular dystrophy (DMD) heart disease as assessed by cardiac magnetic resonance imaging (CMR). DMD patients and control subjects were stratified by age, LV ejection fraction, and late gadolinium enhancement (LGE) status. Tagged CMR images were analyzed for global ventricular function, LGE imaging, and composite and segmental ε cc...
January 2015: Pediatric Cardiology
https://www.readbyqxmd.com/read/25104934/skeletal-muscle-homeostasis-in-duchenne-muscular-dystrophy-modulating-autophagy-as-a-promising-therapeutic-strategy
#6
REVIEW
Clara De Palma, Cristiana Perrotta, Paolo Pellegrino, Emilio Clementi, Davide Cervia
Muscular dystrophies are a group of genetic and heterogeneous neuromuscular disorders characterized by the primary wasting of skeletal muscle. In Duchenne muscular dystrophy (DMD), the most severe form of these diseases, the mutations in the dystrophin gene lead to muscle weakness and wasting, exhaustion of muscular regenerative capacity, and chronic local inflammation leading to substitution of myofibers by connective and adipose tissue. DMD patients suffer from continuous and progressive skeletal muscle damage followed by complete paralysis and death, usually by respiratory and/or cardiac failure...
2014: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/25125379/diagnostic-and-clinical-characteristics-of-early-manifesting-females-with-duchenne-or-becker-muscular-dystrophy
#7
Lauren Imbornoni, Elinora T Price, Jennifer Andrews, F John Meaney, Emma Ciafaloni, Christopher Cunniff
Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1...
November 2014: American Journal of Medical Genetics. Part A
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