Results 51 to 60 of about 73,251 (284)

Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series

Pulmonology, 2019
This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15 mm angled mouthpieces to relieve tachypnea and provide more ...
P. Deo, J.R. Bach
doaj   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse [PDF]

, 2015
Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to ...
Betts, C, Coursindel, T, El Andaloussi, S, Gait, M J, Godfrey, C, Hammond, S, Hildyard, J C W, McClorey, G, Muses, S, O'Donovan, L, Terry, R L, Wells, D J, Wells, K E, Wood, M J   +13 more
core   +2 more sources

Nicotinamide and Pyridoxine Supplementation Enhances Muscle Stem Cell Activity and Muscle Regeneration in Humans: A Randomized Placebo‐Controlled Clinical Trial of High Force Eccentric Contraction Recovery in Healthy Young Men

Advanced Science, EarlyView.
In a randomized clinical trial, we test the potential of combined nicotinamide (NAM) and pyridoxine (PN) to improve muscle recovery through muscle stem cell (MuSC) activity. Daily oral NAM and PN supplementation after high intensity muscle contractions enhances MuSC activation and differentiation, and accelerates muscle regeneration, providing new ...
Grith Højfeldt, Joris Michaud, Ann Damgaard, Karoline Karlog, Eugenia Migliavacca, Sonia Karaz, Elham Pazirandeh‐Micol, Odd E. Johansen, Leonidas G. Karagounis, Bjørk W. Helge, William Hagemann, Michael Kjaer, Jerome N. Feige, Pascal Stuelsatz, Abigail L. Mackey   +14 more
wiley   +1 more source

Pharmacological inhibition of PKCθ counteracts muscle disease in a mouse model of duchenne muscular dystrophy [PDF]

, 2017
Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse
Benedetti, Anna, Bouche', Marina, Fiore, PIERA FILOMENA, LOZANOSKA OCHSER, Biliana, Madaro, Luca, Marrocco, Valeria, Musaro', Antonio, Pisu, Simona, Rizzuto, Emanuele   +8 more
core   +2 more sources

The Role of Extracellular Vesicles MicroRNAs in Sarcopenia: From Aging to Multi‐Morbidity

AGING MEDICINE, EarlyView.
Exosomes transporting miRNAs play a crucial bidirectional regulatory role in the process of sarcopenia, both in natural aging and under various pathological conditions. ABSTRACT Sarcopenia, defined as progressive loss of skeletal muscle mass and function, occurs during aging and has also been recognized for its detrimental effects in various disease ...
Bingyu Huang, Zhao Peng, Lin Kang
wiley   +1 more source

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +1 more source

Metformin enhances external urethral sphincter integrity and restores continence via AMPK activation in a rat model of stress urinary incontinence

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu, Xuhong Li, Alvaro Munoz, Li Jiang, Lihua Huang, Yanhua Zhou, Liping Zhu, Youbo Yang   +7 more
wiley   +1 more source

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

A Mechanistic Model of rAAV Production in Synthetic Cell Lines

Biotechnology and Bioengineering, EarlyView.
ABSTRACT The recombinant adeno‐associated virus (rAAV) is a widely used vector for gene therapy. Its manufacturing faces significant challenges in producing the large quantities of vectors needed for clinical applications and reducing empty particles.
Prahalad Srinivasan, Han‐Jung Kuo, Yu‐Chieh Lin, Yen‐An Lu, Wei‐Shou Hu, Qi Zhang   +5 more
wiley   +1 more source