Results 1 to 10 of about 42,113 (251)

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

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   +2 more sources

Caregivers and multidisciplinary team members’ perspectives on shared decision making in Duchenne muscular dystrophy: A qualitative study [PDF]

Orphanet Journal of Rare Diseases
Background As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important.
Elise Schoefs, Thomas Desmet, Evelyn Lerinckx, Liesbeth De Waele, Sam Geuens, Conny Pelicaen, Luc Meeus, Steven Simoens, Chantal Van Audenhove, Mieke Mommen, Rosanne Janssens, Isabelle Huys   +11 more
doaj   +2 more sources

Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

Frontiers in Pharmacology, 2022
Digital health technologies are transforming the way health outcomes are captured and measured. Digital biomarkers may provide more objective measurements than traditional approaches as they encompass continuous and longitudinal data collection and use ...
Elisa Ferrer-Mallol, Clare Matthews, Madeline Stoodley, Alessandra Gaeta, Elinor George, Emily Reuben, Alex Johnson, Elin Haf Davies   +7 more
doaj   +1 more source

Tromboembolismo pulmonar em criança com Distrofia Muscular de Duchenne: relato de caso

Residência Pediátrica, 2023
OBJECTIVES: To describe a clinical case of pulmonary thromboembolism (PE) in a child with Duchenne muscular dystrophy. METHODS: A detailed description of the clinical picture and a review of the patients medical record were carried out, in addition to a
Daniel Raylander da Silva Rodrigues, Paulo Sucasas Costa, Patrícia Marques Fortes, Dégila da Costa Cruz, Flávia Medeiros Fonseca, Deborah Cristina Fogaça   +5 more
doaj   +1 more source

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli   +12 more
doaj   +1 more source

Protective role of γ ⁃ tocotrienol on muscle satellite cells of Duchenne muscular dystrophy in mice

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To investigate the damage of skeletal muscle satellite cells in Duchenne muscular dystrophy (DMD) and the protective effect of γ⁃tocotrienol (GT3) on muscle satellite cells in DMD knockout mice.
YANG Shuo , ZHAO Hui⁃wen, YANG Juan, ZENG Hui⁃hong, KUANG Bo⁃hai, SHAO Li⁃jian   +5 more
doaj   +1 more source

Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

Molecules, 2021
Duchenne muscular dystrophy (DMD) is a progressive fatal neuromuscular disorder with no cure. Therapies to restore dystrophin deficiency have been approved in some jurisdictions but long-term effectiveness is yet to be established.
Keryn G. Woodman, Chantal A. Coles, Shireen R. Lamandé, Jason D. White   +3 more
doaj   +1 more source

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Arquivos de Neuro-Psiquiatria, 2023
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed.
Alexandra Prufer de Queiroz Campos Araujo, Jonas Alex Morales Saute, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França Jr, Jaqueline Almeida Pereira, Marco Antonio Veloso de Albuquerque, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchôa Cavalcanti, Anna Paula Paranhos Miranda Covaleski, Simone Chaves Fagondes, Juliana Gurgel-Giannetti, Marcus Vinicius Magno Gonçalves, Alberto Rolim Muro Martinez, Antônio Rodrigues Coimbra Neto, Flavio Reis Neves, Anamarli Nucci, Ana Paula Cassetta dos Santos Nucera, Andre Luis Santos Pessoa, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Rosana Herminia Scola, Cláudia Ferreira da Rosa Sobreira   +21 more
doaj   +1 more source

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies [PDF]

Vojnosanitetski Pregled, 2023
Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most ...
Maksić Jasmina, Maksimović Nela, Rasulić Lukas, Milankov Olgica, Marjanović Ana, Cvetković Dragana, Rakočević-Stojanović Vidosava, Novaković Ivana   +7 more
doaj   +1 more source

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in Genetics, 2023
Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez, Shirley Nieves-Rodriguez, Florian Barthélémy, Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Emilie D. Douine, Richard T. Wang, Richard T. Wang, Deirdre D. Scripture-Adams, Deirdre D. Scripture-Adams, Kevin N. Chesmore, Kevin N. Chesmore, Francesca Galasso, M. Carrie Miceli, M. Carrie Miceli, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson   +19 more
doaj   +1 more source