Results 121 to 130 of about 37,908 (265)

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

Annals 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, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Formal and Informal Social Care in People With Rheumatic and Musculoskeletal Diseases: A Cross‐Sectional Multicenter Survey

Arthritis Care &Research, EarlyView.
Objective Rheumatic and musculoskeletal diseases (RMDs) are leading causes of physical disability, necessitating support with activities of daily living. This study describes social care received by patients with RMDs in two disparate regions of England: Salford (urban) and Norfolk (rural).
Mehreen Somro, Karen Durrant, William G. Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H. Humphreys   +6 more
wiley   +1 more source

Perceived Impacts and Predictors of Cannabis Products Used by Patients with Rheumatologic Conditions in Alberta, Canada: A Multivariable Analysis of Cross‐Sectional Survey Data

Arthritis Care &Research, EarlyView.
Objective This study aimed to characterize cannabis product choices (cannabinoid content and formulation) among patients with rheumatologic conditions and their associations with patient factors, patient‐reported perceived side effects, and positive impacts.
Susan Zhang, Samuel A.J. Lowe, Frank Sun, Allyson Jones, Tarek Turk, Joanne Olson, Pauline Paul, Shelby Yamamoto, Linda Kolewaski, Elaine Yacyshyn, Cheryl A. Sadowski   +10 more
wiley   +1 more source

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source

Clinician and Patient Factors Associated With Long‐Term Glucocorticoid Use in People With Rheumatoid Arthritis Receiving Advanced Therapies

Arthritis Care &Research, EarlyView.
Objective Despite guideline recommendations, long‐term glucocorticoid (GC) use is common in rheumatoid arthritis (RA). We conducted a clinician survey nested within a large registry to identify patient and clinician factors associated with GC use. Methods Clinicians contributing patients to the CorEvitas Rheumatoid Arthritis Registry were surveyed ...
Michael D. George, George Reed, Matthew D. Kearney, Peter F. Cronholm, Kevin Kane, Jeffrey R. Curtis, Dimitrios A. Pappas, Joel M. Kremer   +7 more
wiley   +1 more source

Caregiver Perspectives on the Burden of Disease and Treatment in Uncontrolled Gout

Arthritis Care &Research, EarlyView.
Objective Uncontrolled gout (UG) refers to persistently elevated serum urate (SU) levels >6 mg/dL and ongoing gout symptoms despite use of urate‐lowering therapy (ULT). The objective of this study was to evaluate the burden associated with informal caregiving for individuals with UG.
Angelo Gaffo, Bhavisha Desai, Abiola Oladapo, Nana Kragh, Rebekah Zincavage, Brad Padilla, Naomi Schlesinger   +6 more
wiley   +1 more source

A Numerical–Experimental Approach for Multi‐Matrix Fiber‐Reinforced Plastics Characterization Using Finite Element Model Updating

Advanced Engineering Materials, EarlyView.
A numerical–experimental framework is developed for characterizing multi‐matrix fiber‐reinforced polymers (MM‐FRPs) combining epoxy and polyurethane matrices. Harmonic bending tests are integrated with finite element model updating (FEMU) to simultaneously identify elastic and viscoelastic material parameters.
Rodrigo M. Dartora, Tales V. Lisbôa, Axel Spickenheuer, Rogério J. Marczak, Jakson M. Vassoler   +4 more
wiley   +1 more source

Air‐Pressure–Actuated Vibroacoustic Metamaterial With Tunable Bandgap: Design, Modeling, and Characterization

Advanced Engineering Materials, EarlyView.
This article presents the design, modeling, and characterization of air‐pressure–actuated programmable vibroacoustic metamaterials (PVAMM). The study focuses on leveraging air pressure to dynamically tune resonance frequencies for effective noise attenuation.
William Kaal, Michael M. Becker, Sarah C. L. Fischer   +2 more
wiley   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source