Results 131 to 140 of about 206,878 (242)

Quantitative magnetic resonance imaging in muscular dystrophies [PDF]

, 2019
PhD ThesisMuscular dystrophies are rare diseases characterised by progressive muscle wasting and weakness. Putative therapies are being evaluated; the slowly progressive nature makes outcome measures difficult to design.
Murphy, Alexander Peter
core  

Emergencies in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal, Katherine A. Dudley, Stacey Sullivan, Kate T. Brizzi, Katherine M. Burke, Sydney Hall, Kiersten Pease, Joshua N. Goldstein, James D. Berry, Doreen T. Ho   +9 more
wiley   +1 more source

Muscular dystrophies and congenital myopathies in childhood

, 2011
Muscular dystrophies and congenital myopathies in childhood. Muscular dystrophies and congenital myopathies often produce a similar clinical picture of muscle weakness and atrophy.
Tulinius, Mar,, Darin, Niklas,, Thorarinsdottir, Brynja Kristin,   +2 more
core  

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso, Clara Corsete Tonoli, Beatriz Parra Buzzetti, Gabriela Barroso Davoli, Ana Claudia Mattiello‐Sverzut   +4 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

Obesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee, Caroline M. Apovian, Nawfal Istfan   +2 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

An Ergonomic Customizable Soft Robotic Glove Toward Personalized Hand Rehabilitation

SmartBot, EarlyView.
Soft robotic gloves for hand rehabilitation are often limited by poor fit and uneven pressure on the fingers. Here, the authors report an ergonomic all‐fabric glove whose dual‐action actuators are tailored to individual finger geometry by CNC heat sealing, with symmetrical chambers that distribute interface pressure more evenly. Weighing only 90 g, the
Rui Chen, Firman Isma Serdana, Domenico Chiaradia, Xianlong Mai, Elena Losanno, Gabriele Righi, Claudia De Santis, Federica Serra, Vincent Mendez, Cristian Camardella, Daniele Leonardis, Giulio Del Popolo, Silvestro Micera, Antonio Frisoli   +13 more
wiley   +1 more source

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source