RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Chronic exposure to sublethal concentrations of Boral® 500 SC (sulfentrazone) induces sex- and age-dependent metabolic and behavioral effects in Drosophila melanogaster. [PDF]
Gayer MC +7 more
europepmc +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
Chronic Exposure to PM<sub>2.5</sub> Can Be Deadly for People with Chronic Obstructive Pulmonary Disease. [PDF]
Aaron SD.
europepmc +1 more source
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk +10 more
wiley +1 more source
Sub-chronic exposure to crude acetylene results in the development of deleterious cardio metabolic changes in Sprague Dawley rats. [PDF]
Gitonga CG +4 more
europepmc +1 more source
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
Kidney Dysfunction, Biochemical Changes, DNA Alteration, and MAPKs Regulation Following Chronic Exposure to Regular and Occasional Hookah Smoke in Mice. [PDF]
Hamadi N +5 more
europepmc +1 more source
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Chronic Exposure to Cigarette Smoke Induces Pyroptosis in Pulmonary Epithelial Cells via EGR1/USP44/TRAF6 Axis in COPD. [PDF]
Cao C +7 more
europepmc +1 more source

