Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
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
Rethinking the Phonetics of Baby-talk: Differences Across Canada and Vanuatu in the Articulation of Mothers\u27 Speech to Infants [PDF]
Broesch, Tanya +3 more
core
Accessory Articulation of Elongated Anterior Tubercles of the Transverse Processes at C5-C6 in a Young Adult Female Patient: A Case Report. [PDF]
Verhey BE, Sokol JR.
europepmc +1 more source
Associations of Sleep and Shift Work With Osteoarthritis Risk
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik +5 more
wiley +1 more source
Interpreting the Choice Logic Surrounding High-Scoring Students' Enrollment in China's Vocational Secondary-Undergraduate Articulation Program: A Theoretical Thematic Analysis of Public Discourse. [PDF]
Xie L, Wang Y, Zeng S.
europepmc +1 more source
Objective We assessed the effectiveness of PrismRA to improve clinical outcomes among patients with rheumatoid arthritis (RA) initiating treatment with a biologic or targeted synthetic disease‐modifying antirheumatic drug (b/tsDMARD). Methods PrismRA incorporated 19 gene expression features and four clinical features to assess a patient's likelihood of
Fenglong Xie +3 more
wiley +1 more source
Transformation Using Telepresence in the Classroom. [PDF]
Rode JA +6 more
europepmc +1 more source
Objective The objective of this study was to estimate the minimal important change (MIC) and minimal clinically important difference (MCID) for pain and physical function in individuals with hip osteoarthritis (OA) following a physiotherapist‐guided exercise intervention.
Yareni Guerrero +8 more
wiley +1 more source
Development of a Child Articulation Screening Test Within Digital Therapeutics: Delphi Study. [PDF]
Lee J +7 more
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

