Eur J Obstet Gynecol Reprod Biol X
July 2019
Objectives: Surveys of the general population regarding sex selection using pre-implantation genetic diagnosis are limited and were mainly conducted in the United States and Northern Europe. In those Western societies, surveys have shown that people's interest in using sex selection techniques is encouraged by the desire for a sexually balanced family. It is important to determine attitudes to sex selection in a wider range of countries especially that cultural differences exist among countries.
View Article and Find Full Text PDFFamilial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease.
View Article and Find Full Text PDFIntroduction: Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available.
View Article and Find Full Text PDFBackground: Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis.
Methods: Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years).