Results 131 to 140 of about 437,641 (247)

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

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab   +19 more
wiley   +1 more source

Optimizing mobile health clinic placement via geospatial modeling. [PDF]

open access: yesPublic Health Pract (Oxf)
Tanim SH   +3 more
europepmc   +1 more source

Mycophenolate Mofetil Treatment Reduces the Risk of Treatment Escalation Due to Vascular Complications in Limited Cutaneous Systemic Sclerosis: Emulation of a Target Trial From the Italian Rheumatology Society SPRING Registry

open access: yesArthritis Care &Research, EarlyView.
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis   +77 more
wiley   +1 more source

New Onset of Fibromyalgia After Exposure to a Combat Environment: A Longitudinal Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Traumatic life events are hypothesized to be triggers for the onset of fibromyalgia. Posttraumatic stress disorder (PTSD) is a common comorbidity of fibromyalgia. However, limited prospective data are available on the development of fibromyalgia after exposure to high‐magnitude stress.
Jay B. Higgs   +15 more
wiley   +1 more source

Effect of Implementing a Dashboard With or Without a Best Practice Alert on HLA‐B*58:01 Testing Rates Among Allopurinol Users at VA Medical Centers

open access: yesArthritis Care &Research, EarlyView.
Objective The American College of Rheumatology recommends HLA‐B*58:01 allele testing before the initiation of allopurinol, specifically among Asian and African American/Black patients, due to their increased risk for severe hypersensitivity reactions. However, testing rates remain low at many health care facilities.
Abimbola Fadairo‐Azinge   +6 more
wiley   +1 more source

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