Results 81 to 90 of about 68,781 (284)

Illuminating Satellite Cells: Light Sheet Fluorescence Microscopy for 3D Imaging of Murine Skeletal Muscles Damaged by Ex Vivo Forced Eccentric Contraction

Microscopy Research and Technique, EarlyView.
This study presents the light sheet fluorescence microscopy (LSFM) as a tool for 3D‐imaging of whole skeletal muscle to reveal satellite cells (SCs), the muscle stem cells that activate following damage to repair injured tissue. After tissue clearing and whole‐mount staining process aimed to enable optical access and specific cell labeling (1), murine ...
Rachele Garella, Elisa Imbimbo, Francesco Palmieri, Alessia Tani, Martina Parigi, Flaminia Chellini, Alessandra La Contana, Monica Mattioli Belmonte, Aurora Longhin, Ludovico Silvestri, Chiara Sassoli, Roberta Squecco   +11 more
wiley   +1 more source

Fat embolism syndrome in a child with muscular dystrophy of Duchenne type bilateral femur fracture. A rare association.

Revista de la Facultad de Medicina, 2007
It is high the frequency of femur fracture in children with Duchenne Muscular Dystrophy (DMD), with an incidence between 15 and 44%. The fatty embolism is presented in fractures of long bones generally associated to trauma of high energy or to extensive ...
Enrique Vergara Amador, Fernando Galván Villamarín, Marcela Piña Quintero   +2 more
doaj  

Challenges in the management of the child with Duchenne muscular dystrophy in a resource poor setting:a case report

The Pan African Medical Journal, 2014
Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens.
Kelechi Kenneth Odinaka, Emeka Charles Nwolisa   +1 more
doaj   +1 more source

Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL

Muscle &Nerve, EarlyView.
A total of 95 ERT‐experienced adults with LOPD were randomized to switch to cipaglucosidase alfa + miglustat or remain on alglucosidase alfa treatment. After 52 weeks, patients remaining on alglucosidase alfa showed worsening or stability for most outcomes, whereas patients who switched to cipaglucosidase alfa + miglustat generally showed stability or ...
Hani Kushlaf, Jordi Díaz‐Manera, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Paula R. Clemens, Mazen M. Dimachkie, Priya S. Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar, on behalf of the PROPEL Study Group   +17 more
wiley   +1 more source

A Phase 1, Double‐Blind, Placebo‐Controlled Trial of Sevasemten (EDG‐5506), a Selective Modulator of Fast Skeletal Muscle Contraction, in Healthy Volunteers and Adults With Becker Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Sevasemten (EDG‐5506) is an orally administered, investigational small molecule that selectively modulates fast muscle fiber contraction by inhibiting fast myosin ATPase. This study assessed the safety, tolerability, and pharmacokinetics (PK)/pharmacodynamics (PD) of sevasemten in healthy adult volunteers (HVs) and adults ...
Joanne Donovan, Jeffrey A. Silverman, Ben Barthel, Michael DuVall, Molly Madden, James MacDougall, Nicole Rempel Kilburn, Abby Bronson, Marc Evanchik, Gilad Gordon, Kevin Koch, Alan J Russell   +11 more
wiley   +1 more source

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Jonathan Suhl, Kristin M. Conway, Shiny Thomas, Sonja A. Rasmussen, James F. Howard, Nicholas E. Johnson, Paul A. Romitti, Katherine D. Mathews, The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)   +9 more
wiley   +1 more source

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

International Journal of Neonatal Screening, 2018
Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson   +9 more
doaj   +1 more source

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials.
, Bello, Luca, Gordish-Dressman, Heather, Head, Stewart I., Hoffman, Eric P., Hogarth, Marshall W., Houweling, Peter J., North, Kathryn N., Pegoraro, Elena, Thomas, Kristen C.   +9 more
core   +2 more sources

Quantitative Muscle Ultrasound: A Non‐Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) shows promise as a non‐invasive biomarker for monitoring functional status in Duchenne muscular dystrophy (DMD). We evaluated the correlation between QMUS in various muscles and functional capacity assessments.
Yu Jin Im, Yumi Choe, Jiwon Lee, Jeehun Lee, Jong Geol Do, Jeong‐Yi Kwon   +5 more
wiley   +1 more source

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Skeletal Muscle, 2017
Background Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix ...
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson   +9 more
doaj   +1 more source