Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by mutations in the dystrophin gene. DMD boys are wheelchair-bound around 12 years and generally survive into their twenties. There is currently no effective treatment except palliative care, although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of 10. A systemic therapeutic approach is needed that treats the heart and skeletal muscle defects in all patients. The dystrophin-related protein utrophin has been shown to compensate for the lack of dystrophin in the mildly affected BL10/ mouse. The purpose of this investigation was to demonstrate that AAV9-mediated micro-utrophin transgene delivery can not only functionally replace dystrophin in the heart, but also attenuate the skeletal muscle phenotype in severely affected D2/ mice. The data presented here show that utrophin can indeed alleviate the pathology in skeletal and cardiac muscle in D2/ mice. These results endorse the view that utrophin modulation has the potential to increase the quality life of all DMD patients whatever their mutation.
Background: This study compared short- and mid-term outcomes of hemihepatectomy (HH) and pancreatoduodenectomy (PD) in patients with extrahepatic cholangiocarcinoma, focusing on surgical outcomes, body composition, and nutritional status.
Method: A retrospective review was conducted to assess short-term outcomes, including operative time, blood loss, complications, and mortality. Body composition and nutritional parameters were analyzed preoperatively and 1 year postoperatively.
The impact of housing temperature on exercise-induced metabolic adaptations is not well understood, despite extensive research on the benefits of exercise for metabolic health. The aim of this study was to elucidate how housing temperatures influence the molecular responses and metabolic benefits of exercise in mice. Male C57BL/6N mice were housed at either room temperature (RT, 21°C) or in a thermoneutral environment (TN, 29°C) and subjected to either a 6-week or acute exercise regimen.
Introduction: Duchenne muscular dystrophy (DMD) is a severe X-linked disorder characterized by progressive muscle weakness and eventual death due to cardiomyopathy or respiratory complications. Currently, there is no cure for DMD, with standard treatments primarily focusing on symptom management. Using immunosuppressive measures and optimized vector designs allow for gene therapies to better address the underlying genetic cause of the disease.
Creatine monohydrate supplementation (CrM) is a safe and effective intervention for improving certain aspects of sport, exercise performance, and health across the lifespan. Despite its evidence-based pedigree, several questions and misconceptions about CrM remain. To initially address some of these concerns, our group published a narrative review in 2021 discussing the scientific evidence as to whether CrM leads to water retention and fat accumulation, is a steroid, causes hair loss, dehydration or muscle cramping, adversely affects renal and liver function, and if CrM is safe and/or effective for children, adolescents, biological females, and older adults.
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic illness marked by progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle, leading to immobility and reduced quality of life. Early recognition is critical to avoiding flare-ups often triggered by trivial trauma or medical interventions. This report presents two early-diagnosed FOP cases-one at 6 months, the other at 18 months-both with typical features and congenital great toe abnormalities.
