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
Comparative Evaluation of Push-Out Bond Strength Between CAD/CAM-Milled and Anatomically Customized Fiber Posts: An In Vitro Study. [PDF]
Gusmão COA +7 more
europepmc +1 more source
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Associations between DigComp 2.2-based digital competence and multidimensional health literacy among older adult learners in Shanghai Universities of the Third Age: a cross-sectional study. [PDF]
Shen X +6 more
europepmc +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Trimester Specific Anatomical and Histological Characterization of Testicular Descent and Development in Sheep Foetuses. [PDF]
Güzel BC +5 more
europepmc +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Reduction of CXCR3+CCR6+ CD4+ T Cells and IL-17+ RORγt+ CD4+ T Cells During Secukinumab Treatment Identifies Patients With Axial Spondyloarthritis Responsive to Subsequent Biologic Therapy. [PDF]
Pacheco A +4 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
Regional ventricular enlargement as an in vivo biomarker of cumulative biomechanical neurodegeneration in former American football players. [PDF]
Szekely B +15 more
europepmc +1 more source

