Results 101 to 110 of about 282,423 (243)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

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

Does Long‐Term Lower Extremity Strength Training in Adults With Knee Osteoarthritis and Varus Alignment Reduce Knee Joint Loading During Gait?

open access: yesArthritis Care &Research, EarlyView.
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier   +12 more
wiley   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

open access: yesArthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya   +4 more
wiley   +1 more source

Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis

open access: yesArthritis Care &Research, EarlyView.
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham   +81 more
wiley   +1 more source

Artificial Intelligence–Based Online Symptom Assessment Tools for Systemic Lupus Erythematosus Diagnosis: Patient Perspectives

open access: yesArthritis Care &Research, EarlyView.
Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein   +7 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

open access: yesArthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart   +5 more
wiley   +1 more source

Frailty Predicts Incident Osteoporotic Fractures in Veterans with Rheumatoid Arthritis

open access: yesArthritis Care &Research, EarlyView.
Objective Rheumatoid arthritis (RA) is associated with an increased risk of frailty and osteoporosis, but the relationship between frailty and incident osteoporotic fractures in RA is underexplored. Methods Data were from the Veterans Affairs (VA) Rheumatoid Arthritis Registry. Frailty was measured using the VA Frailty Index (VAFI).
Katherine D. Wysham   +14 more
wiley   +1 more source

Factors Associated with Fibromyalgia Diagnosis amongst People Meeting Criteria: Results from UK Biobank

open access: yesArthritis Care &Research, Accepted Article.
Objective The diagnosis of fibromyalgia (FM) is challenging due to the absence of definitive biomarkers, numerous overlapping comorbidities and its reliance on patient‐reported symptoms. Discrepancies between diagnostic criteria and clinical practice imply the possibility of diagnostic biases, complicating timely and accurate identification. This study
Sung‐A Kim   +2 more
wiley   +1 more source

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