Effects of Daily Consumption of an Aqueous Dispersion of Free-Phytosterols Nanoparticles on Individuals with Metabolic Syndrome: A Randomised, Double-Blind, Placebo-Controlled Clinical Trial

Metabolic syndrome (MS) affects up to 40% of the population and is associated with heart failure, stroke and diabetes. Phytosterols (PS) could help to manage one or more MS criteria. The purpose of this study was to evaluate the therapeutic effect of daily supplementation of an aqueous dispersion of 2 g of free-phytosterols nanoparticles in individuals with MS over six months of intervention, compared with placebo. This double-blind study included 202 participants with MS randomly assigned into phytosterol (n = 102) and placebo (n = 100) groups. Participants were assessed at baseline, 4, 12 and 24 weeks. General health questions, anthropometric measurements and blood parameters were analysed. At week 24, the proportion of participants with high triglycerides (≥150 mg/dL) in the phytosterol group was 15.65% lower than in the placebo group (p-value = 0.023). Similarly, half of the participants in the phytosterol group decreased their waist circumference up to 4 cm compared with 0 cm in the placebo group (p-value = 0.0001). We reported no adverse effects (diarrhoea or vitamin D reduction); nonetheless, almost 70% of participants in the phytosterol group self-reported an improvement in bowel habits. Daily intake of free-PS nanoparticles improved some MS criteria; therefore, it might be a promising adjuvant therapy for individuals with MS (NCT02969720)

Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

Article describes how pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumor types, including melanoma, glioma, leukemia and cardiac angiosarcoma. The authors sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 3298 controls, identifying 43 protein-changing genetic variants

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors. Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided. Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001). Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research