Results 201 to 210 of about 122,383 (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

A new simplified minimum data set better predicts outcomes for individuals admitted to intermediate care functional recovery units in catalonia. [PDF]

J Frailty Aging
Inzitari M, Vela E, Pardina CM, Vallés E, Viale L, Valls G, Gil MA, Llonch M, Covinsky K, Deardorff J.   +9 more
europepmc   +1 more source

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

Annals 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

The Frailty Related Index of Comorbidities is More Strongly Associated With Length of Stay Than Other Established Measures of Frailty and Function in an Australian Subacute Inpatient Cohort. [PDF]

Australas J Ageing
Sarbaswa R, Zanker J, Lim WK.
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Predicting Low and Non-Responders and Outliers in Patients with Spinal Cord Injury. [PDF]

J Clin Med
Scivoletto G, Lena E, Barrucci L, Di Pasquale V, Tiberti S, Capobianco SV, Foti C, Lapenna LM, Castiglia SF, Tamburella F.   +9 more
europepmc   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Towards Rigorous Eye-Tracking Methodology in Interdisciplinary Fields: Insights from and Recommendations for Tourism Research. [PDF]

J Eye Mov Res
Hong WCH.
europepmc   +1 more source

Triangular Index Ratio as an Alternative Method to the Alpha Angle for Defining the Presence of Cam Morphology: A Prospective Cohort Study

Arthritis Care &Research, EarlyView.
Objective Cam morphology, which is a significant risk factor for hip osteoarthritis, is commonly quantified by the alpha angle (AA). This study aims to explore the potential of the triangular index ratio (TIR) to quantify cam morphology on anteroposterior radiographs by assessing the association between TIR‐defined cam morphology and the development of
Jinchi Tang, Fleur Boel, Michiel M. A. van Buuren, Noortje S. Riedstra, Myrthe A. van den Berg, Jos Runhaar, Sita Bierma‐Zeinstra, Rintje Agricola   +7 more
wiley   +1 more source

Exploring patient, caregiver and care team experiences of destination therapy Left Ventricular Assist Device (LVAD): A multiple case qualitative study protocol. [PDF]

Int J Nurs Stud Adv
Rebetez N, Zumstein-Shaha M, Dominguez Canosa T, Guyon Y, Ortoleva Bucher C.   +4 more
europepmc   +1 more source