Results 51 to 60 of about 39,875 (271)

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy.
Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski   +20 more
doaj   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Elevation of transaminases. What if not the liver?

Лечащий Врач
Background. According to Russian studies, the average age of Duchenne muscular dystrophy diagnosis is 7-8 years. This is because, on one hand, Duchenne muscular dystrophy is a rare disease, and a doctor may never see it throughout their clinical practice.
I. V. Sharkova
doaj   +1 more source

Five‐Year Outcomes With Delandistrogene Moxeparvovec in Patients With Duchenne Muscular Dystrophy: A Phase 1/2a Study

Muscle &Nerve, EarlyView.
ABSTRACT Aims We report 5‐year results from a phase 1/2a study of delandistrogene moxeparvovec, a recombinant adeno‐associated virus serotype rh74 vector‐based gene therapy for Duchenne muscular dystrophy (DMD), with post hoc analyses contextualizing functional outcomes. Methods Four ambulatory patients with DMD (≥ 4–< 8 years at enrollment) entered an
Jerry R. Mendell, Zarife Sahenk, Linda P. Lowes, Megan A. Iammarino, Lindsay N. Alfano, Craig M. McDonald, James E. Signorovitch, Jim Jin, Jing Li, Stefanie Mason, Louise R. Rodino‐Klapac   +10 more
wiley   +1 more source

Duchenne muscular dystrophy: overview and future challenges [PDF]

, 2017
Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. It is inherited in an X-linked recessive fashion.
Valentinus Besin, Besin, Valentinus, Lasmono, Shirley Ferlina, Moh Hasan Machfoed, Shirley Ferlina Lasmono, Machfoed, Moh.Hasan, Mudjiani Basuki, Basuki, Mudjiani   +7 more
core   +1 more source

Duchenne muscular dystrophy

, 2023
La distrofia muscular de Duchenne es una de las miopatías hereditarias musculares esqueléticas, que provocan la invalidez en la primera década de vida y, luego, la muerte por fallos respiratorios o cardíacos. El gen responsable de la enfermedad se conoce
Ferdin, Litabeth, Callender, Efraín, Villalaz, Isabel, Lara, Daniela   +3 more
core   +1 more source

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD

Frontiers in Pediatrics
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the ...
Pien M. M. Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Philippe Collin, Philippe Collin, Sylvia Klinkenberg, Sylvia Klinkenberg, Sylvia Klinkenberg, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen   +11 more
doaj   +1 more source

Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aim Optimizing Management of Endocrine Complications in Duchenne Muscular Dystrophy (OPTIMIZE DMD) is an international consortium of clinicians created to advance endocrine and bone clinical care in DMD. The aim of this study was to better understand current views and practices regarding investigation and management of growth and ...
Claire L. Wood, Funmbi Babalola, Robert W. Benjamin, Carol Lam, Laura McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena Scavina, Julia C. Sorbara, Alexandra Ahmet, Susan Apkon, Sonum Bharill, Melissa Fiscaletti, Kathi Kinnett, Hugh J. McMillan, Nadia Merchant, Nat Nasomyont, Maria Fernanda Ochoa Molina, Nora E. Renthal, Pamela Smith, Prasanth N. Surampudi, Jaclyn G. Tamaroff, Cuixia Tian, Leanne M. Ward, David R. Weber, Sze Choong (Jarod) Wong, Janet L. Crane, Meilan M. Rutter, on behalf of the OPTIMIZE DMD Consortium, Leanne M. Ward, Pat Furlong, David R. Weber, Sze Choong (Jarod) Wong, Hugh J. McMillan, Meilan M. Rutter, Susan Apkon, Roozbeh Pourziaei Manesh, Mei Wang, Anne Marie Sbrocchi, David R. Weber, Alexandra Ahmet, Aravindhan Veerapandiyan, Medical Sciences, Hugh J. McMillan, Sze Choong (Jarod) Wong, Kathryn A. Selby, Maria‐Elena Lautatzis, Rachel Schrader, Kathi Kinnett, Meilan M. Rutter, Claire L. Wood, Anne Marie Sbrocchi, Carol Lam, Funmbi Babalola, Janet L. Crane, Julia C. Sorbara, Laura McAdam, Robert Benjamin, Stefan Nicolau, Mena Scavina, Leanne M. Ward, Sze Choong (Jarod) Wong, Kim Phung, Nat Nasomyont, Anne Marie Sbrocchi, Cuixia Tian, David R. Weber, Janet L. Crane, Maria Fernanda Ochoa Molina, Meilan M. Rutter, Melissa Fiscaletti, Nadia Merchant, Paula R. Clemens, Rana Halloun, Shipra Bansal, Stefan Nicolau, Pat Furlong, Susan Apkon, Nora E. Renthal, Amanda M. Appel, Aravind Veerapandiyan, Medical Sciences, Claire L. Wood, Gabriela Vargas, Lindsey E. Bratland, Nat Nasomyont, Natalie Truba, Prasanth N. Surampudi, Janet Hoskin, Colin Werth, Patrick Moeschen, Nadia Merchant, Jaclyn Tamaroff, Christopher Lewis, Cuixia Tian, Diana X. Bharucha‐Goebel, Philip Zeitler, Laura McAdam, Maria‐Elena Lautatzis, Meilan M. Rutter, Ryan Farrell, Rainbow Babies, Rana Halloun, Sonum Bharill, Sze Choong (Jarod) Wong, Pat Furlong, Luca Bello, Chiara Panicucci, Clelia Cipolla, Danilo Fintini, Natascia Di Iorgi, Child Health, Sabrina Corbetta, Francesca Cumbo, Alberto Ferlin, Francesco Francini, Luisa De Sanctis, Tommaso Aversa, Gianluca Tornese, Burlo Garofolo, Eugenio Maria Mercuri, Elena Mularoni, Maria Grazia D'Angelo, Bosisio Parini, Chiara Arpaia, Silvia Carrara, Pieve Emanuele, Ilaria Zito, Fernanda de Angelis, Fabiana Boccia, Gaia Relucenti, Filippo Buccella   +131 more
wiley   +1 more source

Quantitative MRI Assessment of Myotoxin‐Induced Skeletal Muscle Damage of mdx Mice

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although magnetic resonance imaging (MRI) has been extensively applied in dystrophic muscle, longitudinal characterization of multiple quantitative MRI parameters during degeneration and regeneration remains limited. This study aimed to longitudinally characterize changes in quantitative MRI parameters in control and ...
Ravneet Vohra, Joshua Park, Feng Zhang, Jeffrey S. Chamberlain, Donghoon Lee   +4 more
wiley   +1 more source

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source