ESPE Yearbook of Paediatric Endocrinology

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 ...

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...

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...

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 ...

PrefaceWelcome to the 6th edition of this chapter on Global Health in Pediatric Endocrinology and Diabetes. As usual, the selected articles cover many aspects of our specialty. This year is important because we celebrate the 100th anniversary of the discovery of insulin by Sir Frederick Banting, Charles Best, John Macleod and James Collip at the University of Toronto in 1921. This discovery paved the way for the first administration...

Sci Rep 2021; 11:274. doi: 10.1038/s41598-020-79501-w– Variation in human stature and limb proportions reflects not only thermal adaptation but also environmental stressors– The authors analysed global variation in stature and limb length using published anthropometric data from adult male and female populations across the world in relation to climate and net primary productiv...

Pediatr Diabetes 2020;1–8. doi: 10.1111/pedi.13137– As part of the SWEET initiative, the authors analyzed the clinical characteristics of 26,726 individuals with type 1 diabetes (T1D) aged < 21 years living in Europe, Asia/Middle East/Africa, Australia/New Zealand, North America and South America– Among patient care indicators, the percent of HbA1c < 7.5% ranged between r...

Pediatr Diabetes. 2021;1–7. doi: 10.1111/pedi.13191– The development of an awareness campaign and of a prospective registry in Mali enabled the collection of more accurate data on the incidence, prevalence and mortality of Type 1 diabetes (T1D) in children and youth <25 years– T1D incidence rose from 0.12 in 2007 to 0.74 in 2016 and T1D prevalence from 0.43 in 2007 to 2.90 in...

PLoS ONE 2021;16: e0245372. doi: 10.1371/journal.pone.0245372– According to pharmacopeia, unopened insulin vials must be stored in a refrigerator (2–8 °C) while storage at ambient temperature (25–28 °C) is usually permitted for the 4-week usage period during treatment– The authors investigated whether insulin remains stable and retains biological activity...

World J Diabetes 2020; 11: 358–369. https://dx.doi.org/10.4239/wjd.v11.i8.358– To assess access to insulin delivery devices and HbA1c in 41 countries supported by the Life for a Child (LFAC) program– Syringes (83.1%), insulin pens (16.7%) and pumps (0.2%) were used for insulin delivery– If supplies were not donated, there was variable access to HbA1c testing within publi...