The Multifaceted Role of the <i>FLNC</i> Gene in Hereditary Cardiomyopathies and Prognosis. [PDF]
D'Apolito M +7 more
europepmc +1 more source
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang +23 more
wiley +1 more source
A machine learning approach to conglomerate multi-domain features of cardiac aging. [PDF]
Tan GHM +12 more
europepmc +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Agreement Between Standard and Right Ventricular-Focused Apical Four-Chamber Views for Right Ventricular Longitudinal Functional Indices: A Within-Participant Agreement Study. [PDF]
Sun FY, Zhao T, Shen JQ, Pan XF.
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Lumbar spinal brucellosis presenting as an atypical epidural abscess. [PDF]
Alzahrani F +5 more
europepmc +1 more source
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu +7 more
wiley +1 more source
Atrial Fibrillation Burden and Early Mitral Valve Remodelling in Patients Without Significant Mitral Regurgitation: A 3D Transesophageal Echocardiographic Study. [PDF]
Emam AY +11 more
europepmc +1 more source
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source

