ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
GMD-YOLO: A Dual-Modality Framework with Multi-Scale Enhancement and Adaptive Fusion for PV Fault Detection. [PDF]
Lin Z, Wang X, Guo Y.
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
DeepTrackSecure: an integrated classification-detection system with predictive risk analytics for proactive railway safety management. [PDF]
Balakrishnan P +4 more
europepmc +1 more source
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song +10 more
wiley +1 more source
Consensus-based feature selection and Bayesian-optimized stacking ensembles for comprehensive fault diagnosis in series-compensated ultra-high-voltage power systems. [PDF]
Nawaz R, Qamar A, Wadood A, Albalawi H.
europepmc +1 more source
Sex Differences in Medication Discontinuation in Axial Spondyloarthritis
Objective We examined sex differences in medication discontinuation among patients with axial spondyloarthritis (axSpA) initiating tumor necrosis factor inhibitors (TNFi), interleukin‐17 inhibitors (IL‐17i), or JAK inhibitors (JAKi). Methods Using data from the Rheumatology Informatics System for Effectiveness (RISE) Registry (2003–2025), we assessed ...
Rachael Stovall +9 more
wiley +1 more source
MSQPSO-Optimized MSCC-CAE for Sensor Fault Detection and Localization in Small Modular Reactors. [PDF]
Zhang W, Wan X, Li X, He Z, Luo M.
europepmc +1 more source
High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello +5 more
wiley +1 more source
Granitic intrusions enhance strain localization and rapid mantle exhumation along an oceanic detachment fault. [PDF]
Poulaki EM +35 more
europepmc +1 more source

