What matters most in pediatric familial hypercholesterolemia, genotype or phenotype?

What matters most in pediatric familial hypercholesterolemia, genotype or phenotype?

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9),...

Learning: what matters most.

Dr Jensen is a leader known nationally and internationally for her scholarly contributions related to expert practice, clinical reasoning, professional ethics, and educational theory and application. Although her vision and work often center on physical therapy, she reaches beyond the profession to have an impact on health professions and higher education more broadly. She has served on several...

Measuring What Matters Most

Jeffrey Lucas Deputy Director, Baldrige National Quality Program What happens when a K‐12 school system sets a goal beyond meeting the minimum state and federal standards for student achievement, and instead commits to “Igniting a Passion for Learning”? In the case of Iredell‐Statesville Schools (I‐SS) in North Carolina, a 2008 Malcolm Baldrige National Quality Award recipient with over 22,000...

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational ana...