Publications by authors named "W Y Au"
: Parkinson's disease (PD) is the second most common neurodegenerative disease, primarily affecting the middle-aged to elderly population. Among its nonmotor symptoms, cognitive decline (CD) is a precursor to dementia and represents a critical target for early risk assessment and diagnosis. Accurate CD prediction is crucial for timely intervention and tailored management of at-risk patients.
View Article and Find Full Text PDFBackground: COVID-19-related social restrictions provided an opportunity to evaluate the impact of social isolation on Parkinson's disease.
Objective: This study aimed to explore changes in social isolation and their associations with PD symptoms using the Lubben Social Network Scale-Revised (LSNS-R).
Methods: Data from 80 participants of the Early Parkinson's Disease Longitudinal Singapore cohort were collected from April 2019 to April 2023, covering the periods before and after the imposition of COVID-19 restrictions.
Diffuse large B-cell lymphoma (DLBCL) is an aggressive malignancy and the most common form of non-Hodgkin lymphoma (NHL) that occurs worldwide. To discover risk factors and pathogenesis of DLBCL, we performed the largest GWAS of DLBCL to date in samples of East Asian ancestry, consisting of 2,888 patients with DLBCL and 12,458 controls. The meta-analysis identified three novel loci, rs2233434 on 6p21.
View Article and Find Full Text PDFArticle Synopsis
- Parkinson's disease (PD) is a progressive movement disorder becoming more common due to an aging population, and researchers aimed to explore rare genetic variants that could help explain its development.
- Whole-exome sequencing was conducted on a large group of PD cases and controls of Asian ancestry, revealing significant links between the genes GBA1 and SMPD1 and the risk of developing PD, confirmed in additional samples.
- The research found that specific SMPD1 variants that reduced enzyme activity were particularly associated with PD risk, with a prominent Asian-specific variant being common among carriers.
Acute leukemia with TCF3::ZNF384 is a distinct type of acute leukemia that present most commonly as B-acute lymphoblastic leukemia or mixed-phenotype acute leukemia (B/myeloid). We report the first case of TCF3::ZNF384 mixed-phenotype leukemia presenting as isolated extramedullary disease in the mediastinum. Diagnosis using RNA-sequencing and whole genome sequencing on the primary issue is illustrated.
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