ISSN 1662-4009 (online)

ey0017.8-2 | New Mechanisms | ESPEYB17

8.2. Cognitive dysfunction in mice lacking proper glucocorticoid receptor dimerization

K Van Looveren , M Van Boxelaere , Z Callaerts-Vegh , C Libert

To read the full abstract: PLoS One. 2019; 14(12): e0226753. PMID: 31869387.Glucocorticoids (cortisol in humans, corticosterone in most rodents) are steroid hormones secreted by the adrenal cortex into the systemic circulation in an ultradian, circadian, and stress-related fashion under the control of the hypothalamic-pituitary-adrenal (HPA) axis. These cholesterol-derived molecules partici...

ey0017.8-13 | New Concerns | ESPEYB17

8.13. Adverse childhood experiences, DNA methylation age acceleration, and cortisol in UK children: a prospective population-based cohort study

Tang Rosalind , Howe Laura D , Suderman Matthew , Relton Caroline L , Crawford Andrew A , Houtepen Lotte C

To read the full abstract: Clin Epigenetics. 2020; 12: 55. PMID: 32264940.A large body of evidence has documented the long-term consequences of adverse childhood experiences (ACEs) on social and health outcomes in later life (1). However, the underlying mechanisms remain unclear. Epigenetic mechanisms may explain the lasting effects of early life adversity (2</stron...

ey0017.12-9 | Metabolic Syndrome | ESPEYB17

12.9. Variabilities in childhood cardiovascular risk factors and incident diabetes in adulthood: The Bogalusa Heart Study

T Du , C Fernandez , R Barshop , V Fonseca , W Chen , LA Bazzano

To read the full abstract: Diabetes Care. 2019;42(9):1816–23. doi: 10.2337/dc19-0430Short summary: In this longstanding cohort study (n =1718), high intraindividual variability over time in BMI and in HDL-C during childhood, independent of their mean levels, conferred an increased risk of later-life diabetes.Comment: Intraindividual variabil...

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...

ey0016.4-12 | New Paradigms | ESPEYB16

4.12. Expression of insulin-like growth factor I and its receptor in the liver of children with biopsy-proven NAFLD

A Alisi , V Pampanini , C De Stefanis , N Panera , A Deodati , V Nobili , S Cianfarani

To read the full abstract: PLoS One. 2018;13:e0201566.NAFLD is a multifactorial disease characterized by an abnormal accumulation of fat in the liver without a history of significant alcohol intake. NAFLD is the most common form of chronic liver disease, affecting 30% of adults and 10% of children in the USA [1]. Alarmingly, its prevalence is increasing worldwide paralleling to the incre...