Results 221 to 230 of about 150,893 (291)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

World Endoscopy Organization Position Statements for Artificial Intelligence in Endoscopic Diagnosis of Gastric Epithelial Neoplasia. [PDF]

open access: yesDig Endosc
Fujishiro M   +11 more
europepmc   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay   +13 more
wiley   +1 more source

Utilization Trends and Surgical Outcomes of Technology-Assisted Total Hip Arthroplasty in the United States From 2014 Through 2024. [PDF]

open access: yesArthroplast Today
Kim MS   +7 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright   +10 more
wiley   +1 more source

Robot-assisted jaw-in-a-day based on the sandwich approach: case series. [PDF]

open access: yesMaxillofac Plast Reconstr Surg
Luo P   +9 more
europepmc   +1 more source

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