Sexual dimorphism in pathogenic variant-harbouring individuals.

Background: Individuals harbouring pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism for vascular events in variant-harbouring patients.

Methods: We analysed two large pedigrees comprising 84 individuals segregating pathogenic missense variants affecting the same p.

Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals.

Aims: (i) Investigate the prevalence of hypertrophic cardiomyopathy (HCM) in individuals with pathogenic/likely pathogenic (P/LP) gene variants detected through family cascade testing in relatives, and (ii) evaluate phenotypic progression in genotype-positive phenotype-negative (G+/P-) individuals during follow-up.

Results: From 2000 to 2023, 273 individuals underwent cardiologic evaluation following P/LP variant detection through family screening. Upon initial evaluation, HCM was diagnosed in 128 (47 %) individuals.

Children's reliance on pointing and mutual exclusivity in word-referent mapping: The role of vocabulary and language exposure.

This study explored monolingual and multilingual two- to five-year-olds' reliance on a non-verbal and a verbal cue during word-referent mapping, in relation to vocabulary knowledge and, for the multilinguals, Dutch language exposure. Ninety monolingual and sixty-seven multilingual children performed a referential conflict experiment that pitted a non-verbal (pointing) cue and a verbal (mutual exclusivity) cue. Mixed-effect regressions showed no main effects of vocabulary and language exposure.

Risk Factors for Acute Intraoperative Bradycardia in Patients Undergoing Gender-affirming Mastectomy.

Gender-affirming mastectomy surgery is highly desired within both transmasculine and nonbinary patient populations. The development of cardiac arrhythmias has been reported within this population. Acute intraoperative bradycardia in patients undergoing gender-affirming mastectomy has not been well described previously.

Loss of quality of life and increased societal costs in patients with hypertrophic cardiomyopathy: the AFFECT-HCM study.

Introduction: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiac disease. The impact of HCM on quality of life (QoL) and societal costs remains poorly understood. This prospective multi-centre burden of disease study estimated QoL and societal costs of genotyped HCM patients and genotype-positive phenotype-negative (G+/P-) subjects.