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Foot peripheral sensory neuropathy: a frequent disabling manifestation in systemic sclerosis.
Rheumatology (Oxford)
January 2025
Leeds Institute of Rheumatic and Musculoskeletal Medicine, School of Medicine, University of Leeds, Leeds, UK.
Objectives: Peripheral Sensory Neuropathy (PSN) is an under-recognized feature in systemic sclerosis (SSc). Moreover, SSc foot involvement is frequent but poorly investigated. We aimed to provide a detailed characterization of foot PSN in a large cohort of SSc patients, describing its associations with disease-specific features, physical disability, and Quality of Life (QoL).
View Article and Find Full Text PDFDynamic Video Assessment of Axial Postural Abnormalities in Parkinson's Disease: A Pilot Study.
Mov Disord Clin Pract
January 2025
Department of Computer Science, University of Verona, Verona, Italy.
Background: Axial postural abnormalities (APAs) are frequent and disabling axial symptoms of Parkinson's disease (PD). Image-based measurement is considered the gold standard but may not accurately detect the true severity of APAs because these symptoms can appear or get worse under dynamic conditions.
Objective: The aim was to evaluate quantitative changes in APAs degree during prolonged standing and walking in both single- and dual-task conditions (motor + cognitive).
Background: Post-Traumatic Stress Disorder (PTSD) is a significant mental health concern in refugee populations exposed to trauma and displacement. Traditional treatments for PTSD often involve lengthy interventions. However, there's a growing interest in exploring more condensed, intensive treatments to improve outcomes and accessibility for refugees.
View Article and Find Full Text PDFGlobal trends in thyroid cancer 1990-2021: an analysis based on the GBD 2021.
Endocr Relat Cancer
January 2025
G Wu, Department of Thyroid and Breast Surgery, Zhongnan Hospital of Wuhan University, Wuhan, China.
This study evaluated the global burden of thyroid cancer (TC) from 1990 to 2021, analyzing its association with sociodemographic factors, sex, age, risk factors, and future projections. Using 2021 Global Burden of Disease data, we analyzed TC incidence, mortality, and disability-adjusted life years (DALYs) across populations. Risk factors were assessed, and future trends forecasted using the Bayesian age-period-cohort model.
View Article and Find Full Text PDFNovel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
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