Results 41 to 50 of about 2,687 (150)
ABSTRACT Aim To conduct a scoping review of nurse‐led Knowledge Translation strategies aimed at promoting and enhancing patient safety in hospital settings. Design Scoping review. Methods This review followed the Joanna Briggs Institute methodology and was reported according to PRISMA‐ScR.
Jhenyfer Amanda Ciriaco Canhete +5 more
wiley +1 more source
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson +6 more
wiley +1 more source
Abstract Limb‐girdle muscle dystrophy Type R9 (LGMDR9), also known as LGMD Type 2I, is a rare genetic disease caused by partial loss of function of fukutin‐related protein (FKRP) enzyme which glycosylates alpha‐dystroglycan, thereby stabilizing myocytes during contraction.
Daniel D. Gretler +4 more
wiley +1 more source
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey +4 more
wiley +1 more source
A Bio-Inspired Probabilistic Neural Network Model for Noise-Resistant Collision Perception
Bio-inspired models based on the lobula giant movement detector (LGMD) in the locust’s visual brain have received extensive attention and application for collision perception in various scenarios.
Jialan Hong +3 more
doaj +1 more source
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Advances in diagnosis and treatment of limb-girdle muscular dystrophy
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype
Meng YU, Zhao-xia WANG
doaj
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source

