Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals 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
Comparative effectiveness of different inhaler technique education modalities on clinical outcomes in patients with asthma and chronic obstructive pulmonary disease: a protocol for a systematic review and network meta-analysis of randomised controlled trials. [PDF]
BMJ OpenYang X, Chen X, Yang C, Feng M, Wu Y.
europepmc +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Digital Technologies for Children With Hearing Impairments to Support Language Learning: Scoping Review. [PDF]
JMIR Rehabil Assist TechnolSari AD +3 more
europepmc +1 more source
Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane +10 more
wiley +1 more source
Mapping the Landscape: A Systematic Review of Technology Trends in Medical Education and Competency Development. [PDF]
Adv Med Educ PractToofaninejad E +6 more
europepmc +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Bedside skills as context engineering: reframing history taking and physical examination for the AI era. [PDF]
Korean J Med EducAhn S, Yang EB.
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
A mixed-methods study on the interplay between AI-assisted dynamic assessment, reading comprehension, and psychological adaptivity. [PDF]
Front PsycholDing C, Li X.
europepmc +1 more source