Effects of mindfulness-based stress reduction on distressed (Type D) personality traits: a randomized controlled trial

Distressed (‘Type D’) personality, the combination of negative affectivity (NA) and social inhibition (SI), has been associated with adverse health outcomes. The purpose of this study was to examine if an 8-week mindfulness-based stress reduction (MBSR) program could reduce Type D personality characteristics. Distressed individuals from the Dutch general population (N = 146; mean age = 46.07; 69 % female) participated in a randomized trial comparing the mindfulness intervention with waitlist control. Although change in Type D caseness did not differ between groups, the intervention group showed stronger reductions for both NA (p < .001) and SI (p < .05) dimensions, even when change in state negative affect was statistically controlled. These effects were mediated by change in self-reported mindfulness. In conclusion, MBSR may reduce characteristics of the distressed personality type, likely through the mechanism of increased mindfulness.     

Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population

BackgroundFamilial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease.ObjectiveIn this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of LDL-R and ligand interactions with apolipoproteins.Methods27 children and adolescents with suspected FH diagnosis were recruited from a pediatric endocrinology outpatient clinic. Blood samples were collected after 12 h fasting for lipid profile analysis. DNA sequencing was performed for six FH-related genes by Ion Torrent PGM platform and copy number variation by MLPA. For index cases, a familial cascade screening was done restricted to the same mutation found in the index case. In silico analysis were developed to evaluate the binding capacity of LDL-R to apolipoproteins B100 and E.ResultsLipid profile in children and adolescents demonstrated higher LDL-C levels in p.Asp47Asn carriers compared to the wild type genotype. In silico analysis predicted a reduction in the binding capacity of the ligand-binding modules LA1-2 of p.Asp47Asn LDL-R for ApoB100 and ApoE, which was not produced by local structural changes or folding defects but as a consequence of a decreased apparent affinity for both apolipoproteins.ConclusionThe clinical phenotype and the structural effects of p.Asp47Asn LDL-R mutation suggest that this variant associates to FH.