Published in Skeletal Muscle
In response to muscle injury, muscle stem cells integrate environmental cues in the damaged tissue to mediate regeneration. These environmental cues are tightly regulated to ensure expansion of muscle stem cell population to repair the damaged myofibers while allowing repopulation of the stem cell niche. These changes in muscle stem cell fate resul...
Published in Journal of Neurology
Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim of this study is to describe th...
Published in Redox biology
Imbalances in redox homeostasis can result in oxidative stress, which is implicated in various pathological conditions including the fatal neuromuscular disease Duchenne Muscular Dystrophy (DMD). DMD is a complicated disease, with many druggable targets at the cellular and molecular level including calcium-mediated muscle degeneration; mitochondria...
Published in Molecular Cytogenetics
BackgroundSmall copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reported case of confined placental mosaicism for an intragenic Duchenne muscular dystrophy (DMD) gene deletion.Case presentationWe descri...
Published in Antioxidants
The discordance between pre-clinical success and clinical failure of treatment options for Duchenne Muscular Dystrophy (DMD) is significant. The termination of clinical trials investigating the phosphodiesterase inhibitors, sildenafil and tadalafil (which prolong the second messenger molecule of nitric oxide (NO) signaling), are prime examples of t...
BackgroundCardiovascular disease is the leading cause of death in patients with Duchenne muscular dystrophy (DMD)-a fatal X-linked genetic disorder. Late gadolinium enhancement (LGE) imaging is the current gold standard for detecting myocardial tissue remodeling, but it is often a late finding. Current research aims to investigate cardiovascular ma...
Published in Journal of Cardiovascular Magnetic Resonance
BackgroundCardiovascular disease is the leading cause of death in patients with Duchenne muscular dystrophy (DMD)—a fatal X-linked genetic disorder. Late gadolinium enhancement (LGE) imaging is the current gold standard for detecting myocardial tissue remodeling, but it is often a late finding. Current research aims to investigate cardiovascular ma...
Published in Skeletal Muscle
The nuclear factor erythroid 2-related factor 2 (Nrf2) is considered as a master cytoprotective factor regulating the expression of genes encoding anti-oxidant, anti-inflammatory, and detoxifying proteins. The role of Nrf2 in the pathophysiology of skeletal muscles has been evaluated in different experimental models, however, due to inconsistent da...
Published in JMIR mHealth and uHealth
Duchenne muscular dystrophy is a serious and progressive disease affecting one in 3500-6000 live male births. The use of new virtual reality technologies has revolutionized the world of youth rehabilitation. We performed a systematic review to study the effectiveness of the use of virtual reality systems applied in the rehabilitation of the upper l...
Published in Clinical Medicine Insights. Endocrinology and Diabetes
The objective of this study was to estimate the comparative effectiveness of bisphosphonate therapy on bone mineral density (BMD) in patients with corticosteroid-treated Duchenne muscular dystrophy (DMD). A retrospective, comparative effectiveness study evaluating changes in BMD and fragility fractures in patients with DMD presenting to British Col...
