Results 201 to 210 of about 2,117,343 (302)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Consensus-based guidelines on subtrochanteric femur fractures: Bridging evidence and experience on 11 key clinical dilemmas. [PDF]

SICOT J
Keny S, Sharma G, Poduval M, Tiwari A, Bagaria V.   +4 more
europepmc   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

SciRAPepi Tool: Optimization of the SciRAP Tool for Evaluating the Reliability and Relevance of Observational Epidemiological Studies for Hazard and Risk Assessment of Chemicals. [PDF]

Environ Sci Technol
Hlisníková H, Beronius A.
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia. [PDF]

Eur J Neurol
Kyriakides T, Aleksovska K, Angelini C, Argov Z, Claeys KG, de Visser M, FIlosto M, Jovanovic I, Kostera-Pruszczyk A, Molnar MJ, Sacconi S, Schaefer J, Siciliano G, Vilchez JJ, Schoser B, Toscano A.   +15 more
europepmc   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Expert Opinion of Empagliflozin Positioning in the Current Type 2 Diabetes Mellitus (T2DM) Landscape in Indian Patients. [PDF]

Cureus
Sethi B, Mehta A, Dasgupta A, Chawla M, Deka N, Agarwal N, Mazumder C, Ghosh I, Gala V, Muchhala S, Sonkar A.   +10 more
europepmc   +1 more source

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund, Johan Reutfors, Thomas Frisell, Fredrik Piehl   +3 more
wiley   +1 more source

An Evidence-Based Exercise Program for Total Hip Arthroplasty Rehabilitation in Geriatric Patients with Femoral Neck Fractures: A Delphi Study. [PDF]

Clin Interv Aging
Gao Y, Zhu Q, Zhan X, Zhong F, Zhu Y, Li W, Zhu X.   +6 more
europepmc   +1 more source