ISSN 1662-4009 (online)

Previous issue | Volume 18 | ESPEYB18 | Next issue

Yearbook of Paediatric Endocrinology 2021

ey0018.12-13 | Lipids | ESPEYB18

12.13. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

M Futema , U Ramaswami , L Tichy , MP Bogsrud , KB Holven , J Roeters van Lennep , A Wiegman , OS Descamps , A De Leener , E Fastre , M Vrablik , T Freiberger , H Esterbauer , H Dieplinger , S Greber-Platzer , AM Medeiros , M Bourbon , V Mollaki , E Drogari , SE Humphries

Atherosclerosis. 2021 Feb;319:108–117. doi: 10.1016/j.atherosclerosis.2021.01.008. PMID: 33508743.In brief: This multi-centre study included 2866 children with familial hypercholesterolemia (FH) from 8 European countries. The mutation spectrum was assessed, as were associations between gene mutations and clinical characteristics and pre and post-treatment lipid ...

ey0018.12-14 | Lipids | ESPEYB18

12.14. Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a mendelian randomization analysis using outcomes in first-degree relatives

Richardson Tom G , Wang Qin , Sanderson Eleanor , Mahajan Anubha , McCarthy Mark I , Frayling Timothy M , Ala-Korpela Mika , Sniderman Allan , Smith George Davey , Holmes Michael V

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...

ey0018.12-15 | Lipids | ESPEYB18

12.15. Detection of Lipoprotein X (LpX): A challenge in patients with severe hypercholesterolaemia

A Ćwiklińska , A Mickiewicz , R Kowalski , B Kortas-Stempak , A Kuchta , K Mucha , M Makowiecki , A Gliwińska , K Lewandowski , L Pęczek , M Fijałkowski , M Gruchała , M Jankowski

J Med Biochem. 2020 Sep 2;39(3):283–289. doi: 10.2478/jomb-2019-0038. PMID: 33269016.In brief: This case report serves as a platform to discuss the differential diagnosis of severe hypercholesterolemia. A young woman with T1DM and autoimmune liver disease presented with an LDL cholesterol value >1000 mg/dl (>26 mmol/l). She had no family history to suggest familial hyp...

ey0018.12-16 | Lipids | ESPEYB18

12.16. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Y Luo , A Eran , N Palmer , P Avillach , A Levy-Moonshine , P Szolovits , IS Kohane

Nat Med. 2020 Sep;26(9):1375–1379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...