0000000000871349
AUTHOR
Alessandro Lupi
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…
Astrophysics with the Laser Interferometer Space Antenna
Full list of authors: Amaro-Seoane, Pau; Andrews, Jeff; Sedda, Manuel Arca; Askar, Abbas.; Baghi, Quentin; Balasov, Razvan; Bartos, Imre; Bavera, Simone S.; Bellovary, Jillian; Berry, Christopher P. L.; Berti, Emanuele; Bianchi, Stefano; Blecha, Laura; Blondin, Stephane; Bogdanovic, Tamara; Boissier, Samuel; Bonetti, Matteo; Bonoli, Silvia; Bortolas, Elisa; Breivik, Katelyn; Capelo, Pedro R.; Caramete, Laurentiu; Cattorini, Federico; Charisi, Maria; Chaty, Sylvain; Chen, Xian; Chruslinska, Martyna; Chua, Alvin J. K.; Church, Ross; Colpi, Monica; D'Orazio, Daniel; Danielski, Camilla; Davies, Melvyn B.; Dayal, Pratika; De Rosa, Alessandra; Derdzinski, Andrea; Destounis, Kyriakos; Dotti, Massi…