Results 141 to 150 of about 522,372 (256)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian   +4 more
wiley   +1 more source

Integrating Patient‐Reported Quality Measures in Systemic Lupus Erythematosus: Development of the American College of Rheumatology Implementation Guide

open access: yesArthritis Care &Research, EarlyView.
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah   +13 more
wiley   +1 more source

Obesity Subtypes and Longitudinal Trajectories of Function Over Seven Years of Follow‐Up: Data From the Multicenter Osteoarthritis Study

open access: yesArthritis Care &Research, EarlyView.
Objective Obesity, defined by body mass index (BMI) ≥30 kg/m2, is a risk factor for functional limitations in people with knee osteoarthritis (OA). However, function varies among such individuals. Our objective was to evaluate the implications of obesity subtypes on longitudinal patterns of physical functioning in people with or at risk for knee OA ...
Kristine Godziuk   +7 more
wiley   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

open access: yesArthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale   +6 more
wiley   +1 more source

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