Results 41 to 50 of about 2,672 (146)

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, 2023
Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive.
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
doaj   +1 more source

Nursing‐Led Knowledge Translation Strategies to Improve Patient Safety in Hospital Settings: A Scoping Review

Journal of Advanced Nursing, EarlyView.
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, Vânia Ana Silveira Muniz, Milene Negri Reiser, Chantal Backman, Gabriela Marcellino de Melo Lanzoni, Ana Lúcia Schaefer Ferreira de Mello   +5 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
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, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

An Engineering Approach to Improve Performance Predictions for Wind Turbine Applications: Comparison with Full Navier-Stokes Model and Experimental Measurements [PDF]

Journal of Applied Fluid Mechanics
Accurate predictions of aerodynamic performance and near wake expansion around Horizontal Axis Wind Turbine (HAWT) rotors is pivotal for studying wind turbine wake interactions and optimizing wind farm layouts.
M. N. Hamlaoui, A. Bouhelal, A. Smaili, H. Fellouah   +3 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
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, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review

Muscles, 2023
Skeletal muscle MRI studies in limb-girdle muscular dystrophy (LGMD) have increased over the past decades, improving the utility of MRI as a differential diagnostic tool.
Ryo Morishima, Benedikt Schoser
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

A Bio-Inspired Probabilistic Neural Network Model for Noise-Resistant Collision Perception

Biomimetics
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, Xuelong Sun, Jigen Peng, Qinbing Fu   +3 more
doaj   +1 more source

Convergent Post‐Drought Recovery of Biomass and Functional Traits Under Constant and Periodic Warming in Slow‐ and Fast‐Growing Plants

Global Change Biology Communications, Volume 1, Issue 2, June 2026.
In a 2‐year outdoor mesocosm experiment, slow‐ and fast‐growing grassland plants exhibit biomass‐trait decoupling 1 month after drought, particularly under warmed conditions. This decoupling disappears 4 months after drought by the end of the growing season.
Nicolò Tartini, Ludovico Formenti, Yu Sun, Lauriane Bégué, Caroline Daniel, Itzel Lopez‐Montoya, Gerard Martínez‐De León, Nicholas O. E. Ofiti, Hang Zhao, Madhav P. Thakur   +9 more
wiley   +1 more source

Advances in diagnosis and treatment of limb-girdle muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
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