ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell. 2019;179(6):1276–88 e14. doi: 10.1016/j.cell.2019.10.034Short summary: Deficiency in the orphan G protein coupled receptor 146 (GPR146) decreases blood lipid levels and protects against atherosclerosis in mice, independent of LDL receptor activity.Comment: Monogenic hypercholesterolemia is a heterogeneous gro...

To read the full abstract: N Engl J Med. 2019;381(16):1547–56. doi: 10.1056/NEJMoa1816454Short summary: Twenty years of treatment of statin therapy in children with Familial Hypercholesterolemia (FH) slowed the progression of carotid intima–media thickness and reduced the risk of cardiovascular disease in adulthood. By age 39 years, the cumulative incidence of cardiovascul...

To read the full abstract: Cochrane Database Syst Rev. 2019;2019(11). doi: 10.1002/14651858.CD006401.pub5Short summary: This systematic review shows that statin treatment is an effective lipid-lowering therapy in children with Familial Hypercholesterolemia (FH). Few or no safety issues were identified.Comment: Cochrane is an international cha...

To read the full abstract: N Engl J Med. 2020;382(16):1520–30. doi: 10.1056/NEJMoa1913805Short summary: Inclisiran (a small interfering double-stranded RNA against PCSK9) is superior to placebo in reducing LDL-C among individuals with heterozygous Familial Hypercholesterolemia who are already on statins and ezetimibe.Comment: Proprotein convertas...

To read the full abstract: Cell. 2020. doi: 10.1016/j.cell.2020.04.034Short summary: In this study, rather than focusing on genes associated with obesity, the authors studied genetic variants associated with thinness (BMI <6th percentile for age). In a genome-wide association study from the Estonian Biobank, 881 people were classified as thin, and 3173 individuals with norm...

To read the full abstract: BMJ. 2019;367:l6460. doi: 10.1136/bmj.l6460Short summary: There is wide variation around the world in how researchers manage their work-life balance.Comment: The Christmas edition of The BMJ published this observational study that examined more than 49 000 manuscripts and 76 000 peer review online submissions to The...