ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
Capturing Current Practices and Characterizing Measurement Reproducibility for Seized Drug Analysis Using Ambient Ionization Mass Spectrometry: An Interlaboratory Study. [PDF]
Sisco E, Leber DD, Moorthy AS.
europepmc +1 more source
Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting +12 more
wiley +1 more source
Determining the Upper-Bound on the Code Distance of Quantum Stabilizer Codes Through the Monte Carlo Method Based on Fully Decoupled Belief Propagation. [PDF]
Liang Z, Wang Z, Yi Z, Yang F, Wang X.
europepmc +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
Encouraging classroom activities for children using avatar robots: a field trial. [PDF]
Kawata M +7 more
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source
Aggregated decision system for financial resilience and performance enhancement. [PDF]
Tian X, Ma Y.
europepmc +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source

