Introduction Systematic reviews and meta-analyses are critical in Evidence-Based Medicine, representing the highest level of scientific evidence. Despite the inclusion of Research Methodology and Statistics in medical curricula, the publication rate among residents remains low. […]
Vitiligo is an acquired skin disorder characterised by progressive depigmentation of the skin due to selective loss of melanocytes. Its aetiopathogenesis is complex and multifactorial, involving an interaction between genetic, immunological and environmental factors. Recent […]
Introduction Several studies have analysed the presence of P2RX7 variants in patients with MS, reporting diverging results. Methods Our study analyses P2RX7 variants detected through whole-exome sequencing (WES). Results We analysed P2RX7, P2RX4, and CAMKK2 […]
Parkinson’s disease (PD) accounts for a significant burden on modern society, with an increasingly rapid growth in cases. Variants of several genes have been linked to the risk of developing the disease (e.g., the GBA […]
The genes associated with autosomal recessive Parkinson’s disease (PD) include the PRKN, PINK1, and DJ-1 genes. Homozygous and compound heterozygous carriers of pathogenic variants of these genes tend to display typical characteristics of PD at […]