Publications by authors named "M Seia"
Healthcare workers experienced high degree of stress during COVID-19. Purpose of the present article is to compare mental health (depressive and Post-Traumatic-Stress-Disorders-PTSD-symptoms) and epigenetics aspects (degree of methylation of stress-related genes) in front-line healthcare professionals versus healthcare working in non-COVID-19 wards. Sixty-eight healthcare workers were included in the study: 39 were working in COVID-19 wards (cases) and 29 in non-COVID wards (controls).
View Article and Find Full Text PDFVPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Parkinsonism Relat Disord
January 2022
VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson's disease (PD). Moreover, recent studies linked biallelic VPS13C mutations with the development of dementia with Lewy bodies (DLB).
View Article and Find Full Text PDFArticle Synopsis
- * A study of 257 individuals from 71 families found that approximately 20% of gene mutation carriers developed aHUS, indicating low penetrance, especially among siblings (7.47 events per 1000 person-years) and offspring (6.29 events per 1000 person-years).
- * The findings suggest that the disease risk is significantly lower than previously thought and varies by family relationship, emphasizing the need for careful consideration of genetic variant classifications over time.