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
Artificial Intelligence Versus Human Expertise in Implant Treatment Planning: A Retrospective Cone-Beam Computed Tomography-Based Comparative Study. [PDF]
Jadhav P +5 more
europepmc +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
An explainable AI framework for enhanced software defect prediction using transformer-assisted boosting. [PDF]
Kun Q +5 more
europepmc +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Research on strategies for enhancing the competency of safety directors in EPC projects empowered by AI. [PDF]
Guan J, Yang ZC, Wang C.
europepmc +1 more source
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
Artificial Intelligence-Augmented Morphometric Reporting for Standardized Facial Aesthetic Treatment Planning: A Multi-Rater Reliability Study. [PDF]
Karakoyun Ö +4 more
europepmc +1 more source

