Results 61 to 70 of about 51,867 (216)

Heart failure in Duchenne's progressive muscular dystrophy (case report)

Евразийский Кардиологический Журнал
Progressive Duchenne muscular dystrophy is a common X-linked recessive myopathy caused by a mutations in the gene encoding dystrophin. Duchenne muscular dystrophy is characterized by damage to the heart muscle with conduction and rhythm disturbances, and
S. D. Mayanskaya, O. V. Bulashova, E. I. Mukhitova, E. V. Khazova   +3 more
doaj   +1 more source

From muscle fibres to muscle gears: how dynamic fascicle orientation and shape change impact skeletal muscle function

Biological Reviews, EarlyView.
ABSTRACT Skeletal muscle architectural design strongly affects force‐generating capacity and excursion range, and its functional importance to animal and human movement is well founded. Traditionally, this ‘structure–function relation’ has been inferred from architecture measurements with muscles at rest (from anatomical dissections or medical imaging ...
Matheus D. Pinto, James M. Wakeling, Javier A. Almonacid, Anthony J. Blazevich   +3 more
wiley   +1 more source

CLINICAL CASE OF FAMILIAL DUCHENNE MYODYSTROPHY

Мать и дитя в Кузбассе, 2022
The article presents an analysis of a clinical case of the diagnosis of familial Duchenne myodystrophy in a newborn child confirmed in the neonatal period. The stages of diagnosis and their peculiarities are described.
Марина Афанасьевна Соколовская, Екатерина Сергеевна Макарцева, Елена Николаевна Гаврилова   +2 more
doaj  

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP^® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

International Journal of Neonatal Screening, 2019
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the
Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari, Teemu Korpimäki   +11 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Evolution of therapeutic management of patients with ANCA associated vasculitis in France after licensing Rituximab use

BMC Rheumatology
Introduction In 2013, rituximab was approved in France for the treatment of ANCA-associated vasculitis (AAV). The aim of the study was to compare the treatment and health events of adult incident patients with granulomatosis with polyangiitis (GPA) and ...
Cécile-Audrey Durel, Eric Simon Thervet, Dominique Chauveau, Aurélie Schmidt, Benjamin Terrier, Pierre M Bataille   +5 more
doaj   +1 more source

Pharmacological management of Duchenne muscular dystrophy

, 2021
Duchenne muscular dystrophy is an inherited disorder mainly affecting males causing progressive skeletal and cardiac muscle weakness. The males can additionally have many complications, including cardiomyopathy, respiratory insufficiency, orthopedic ...
Gudmundsdottir, Andrea
core  

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance

Health Care Science, EarlyView.
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Ilaria Saltarella, Concetta Altamura, Paola Laghetti, Giuseppina Settanni, Nicola Savino, Angelo Galiano, Bodvaël Fraysse, Angelo Vacca, Jean‐François Desaphy   +8 more
wiley   +1 more source