ISSN 1662-4009 (online)

ey0019.11-1 | Genetic obesity: findings in clinical cohorts – how to interpret results? | ESPEYB19

11.1. Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program

KJ Roberts , AJ Ariza , K Selvaraj , M Quadri , C Mangarelli , S Neault , EE Davis , HJ Binns

robertkj@uwm.edu International Journal of Obesity 2022 May 13:1–9. doi: 10.1038/s41366-022-01139-7. https://pubmed.ncbi.nlm.nih.gov/35562395/Brief Summary: This exploratory study presents the findings and experiences from n=117 children with obesity (BMI ≧97th percentile for age...

ey0019.12-14 | Hyperlipidemia | ESPEYB19

12.14. Maternal hypercholesterolaemia during pregnancy affects severity of myocardial infarction in young adults

C Cacciatore F, Bruzzese G, Abete P, Russo G, Palinski W, Napoli

Eur J Prev Cardiol 2022;29(5):758-65. doi: 10.1093/eurjpc/zwab152Brief Summary: This retrospective study identified an association between high maternal cholesterol levels during pregnancy with more severe heart attacks in young adult offspring.Comment: During pregnancy, physiological increases in total cholesterol and triglyceride (TG) levels occur due to increases in i...

ey0019.13-9 | Diabetes | ESPEYB19

13.9. Global estimates of incidence of type 1 diabetes in children and adolescents: results from the International Diabetes Federation atlas, 10th edition

GD Ogle , S James , D Dabelea , C Pihoker , J Svennson , J Maniam , EL Klatman , CC Patterson

grahamo@diabetesnsw.com.au Diabetes Res Clin Pract 2022, 183:109083. doi: 10.1016/j.diabres.2021.109083Brief Summary: The incidence of Type 1 diabetes (T1D) in children and adolescents is increasing in many nations. The 10th edition of the International Diabetes Federation Atlas reports that an estimated 108,300 youth aged < 15 years a...

ey0017.3-13 | Clinical trials for thyroid disease | ESPEYB17

3.13. Cognitive function in children with idiopathic subclinical hypothyroidism: Effects of 2 years of levothyroxine therapy

D Capalbo , S Alfano , M Polizzi , R Di Mase , N Improda , A Esposito , C Bravaccio , M Salerno

To read the full abstract: J Clin Endocrinol Metab. 2020;105:e774–e7781.This prospective non-randomized clinical trial investigated the effect of two-years levothyroxine treatment in children with subclinical hypothyroidism (TSH 5.0–9.9 mU/l with normal FT4 for two years preceding the study) starting at a mean age of 9 years. Capalbo et al. observed no change in IQ scores in 20 children after two-years of levothyroxine. Furthe...

ey0017.13-11 | Endocrinology | ESPEYB17

13.11. Worldwide secular trends in age at pubertal onset assessed by breast development among girls: a systematic review and meta-analysis

C Eckert-Lind , AS Busch , JH Petersen , FM Biro , G Butler , EV Brauner , A Juul

To read the full abstract: JAMA Pediatr. 2020;174(4):e195881. doi: 10.1001/jamapediatrics.2019.5881• The authors evaluated the change in pubertal onset in healthy girls around the world based on age at thelarche.• Overall, the age at thelarche decreased 0.24 years per decade from 1977 to 2013.• This decrease seems to reflect a worldwide trend....

ey0017.14-3 | (1) | ESPEYB17

14.3. The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski Konrad J. , Francioli […et al \..] Laurent C. , MacArthur Daniel G.

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

ey0016.1-7 | Updates on Kisspeptin | ESPEYB16

1.7. Genetic dissection of the different roles of hypothalamic kisspeptin neurons in regulating female reproduction

L Wang , C Vanacker , LL Burger , T Barnes , YM Shah , MG Myers , SM Moenter

To read the full abstract: Elife 2019;8:e43999.Two populations of Kisspeptin neurons are described in the hypothalamus. One population is located in the rostral part of the hypothalamus (the anteroventral periventricular nucleus, AVPV); the other is in the arcuate nucleus (ARC). The major difference between these populations is the opposing effects of 17b-estradiol (E2) on Kiss1...

ey0016.2-13 | Maternal Obesity and Long-term Infant Consequences | ESPEYB16

2.13. Maternal obesity and the human milk metabolome: associations with infant body composition and postnatal weight gain

E Isganaitis , S Venditti , TJ Matthews , C Lerin , EW Demerath , DA Fields

To read the full abstract: Am J Clin Nutr. 2019 Apr 4The study analyzed relationships between maternal obesity and human milk metabolites, infant body composition, and postnatal weight gain.Maternal obesity is one of the strongest predictors of childhood obesity. Although the mechanism/s by which this obesity risk is transmitted to the offspring are not known diffe...

ey0016.2-15 | Impact of Maternal Diet on Hypothalamic-Pituitary-Adrenal Function | ESPEYB16

2.15. Maternal high fat diet programs hypothalamic-pituitary-adrenal function in adult rat offspring

X Niu , X Wu , A Ying , B Shao , X Li , W Zhang , C Lin , Y Lin

To read the full abstract: Psychoneuroendocrinology. 2018 Dec 6;102:128–138.This study investigated whether maternal high fat diet (HFD) exposure during rat pregnancy and lactation can alter the hypothalamic-pituitary-adrenal (HPA) in adult male offspring.Maternal diet and metabolic status are important factors which influence the intrauterine and early postna...

ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...