Results 1 to 10 of about 51,867 (216)

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

open access: yesFrontiers 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   +7 more
doaj   +1 more source

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

open access: yesCommunications 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   +12 more
doaj   +1 more source

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

open access: yesChinese 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   +5 more
doaj   +1 more source

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

open access: yesResidência 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   +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

open access: yesMolecules, 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   +3 more
doaj   +1 more source

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

open access: yesArquivos 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   +21 more
doaj   +1 more source

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

open access: yesVojnosanitetski 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   +7 more
doaj   +1 more source

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

open access: yesScientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop   +10 more
doaj   +1 more source

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

open access: yesFrontiers 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   +19 more
doaj   +1 more source

Septic shock secondary to an acute necrotizing community-acquired pneumonia with bacteremia due to Pseudomonas aeruginosa

open access: yesIDCases, 2019
Pseudomonas aeruginosa is an uncommon cause of necrotizing acute community-acquired pneumonia (CAP). Only thirteen cases have been previously reported in the literature.
P. Riviere   +9 more
doaj   +1 more source

Home - About - Disclaimer - Privacy