ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 5 of about 81 results

ey0015.5-7 | Fractures, vitamin D and steroids – unclear associations | ESPEYB15

5.7 Vitamin D and Fracture Risk in Early Childhood: A Case-Control Study

LN Anderson , SW Heong , Y Chen , KE Thorpe , K Adeli , A Howard , E Sochett , CS Birken , PC Parkin , JL Maguire , TARGet Kids Collaboration

To read the full abstract: Am J Epidemiol 2017;185:1255-1262Vitamin D and adequate dietary calcium intake are important for skeletal health and therefore it was expected that vitamin D concentration would be associated with increased fracture risk. However, here, the authors did not find any statistically significant association between concurrent 25(OH)D concentration and fracture risk. In addition...
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ey0015.14-1 | Why do women have more autoimmune disease than men? | ESPEYB15

14.1 Estrogen receptor α contributes to T cell–mediated autoimmune inflammation by promoting T cell activation and proliferation

I Mohammad , I Starskaia , T Nagy , J Guo , E Yatkin , K Väänänen , WT Watford , Z Chen

To read the full abstract: Sci. Signal. 2018;11:eaap9415Women are more frequently affected by autoimmune disorders than men. A role for estrogen was suggested by the observation that the development of inflammatory bowel disease was associated with oral contraceptive use. Women also respond to infection and vaccination with higher antibody production and a T helper 2 (TH2) cell&#8211...
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ey0020.1-5 | Follow-up Paper from the 2022 Yearbook | ESPEYB20

1.5. Evaluation of the molecular landscape of pediatric thyroid nodules and use of a multigene genomic classifier in children

JN Gallant , SC Chen , CA Ortega , SL Rohde , RH Belcher , JL Netterville , N Baregamian , H Wang , J Liang , F Ye , YE Nikiforov , MN Nikiforova , VL Weiss

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...
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ey0020.3-15 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.15. Lymphatic vessels in bone support regeneration after injury

L Biswas , J Chen , J De Angelis , A Singh , C Owen-Woods , Z Ding , JM Pujol , N Kumar , F Zeng , SK Ramasamy , AP Kusumbe

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...
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ey0020.12-3 | Genetics | ESPEYB20

12.3. Genetic effects on the timing of parturition and links to fetal birth weight

Sole-Navais Pol , Flatley Christopher , Steinthorsdottir Valgerdur , Vaudel Marc , Juodakis Julius , Chen Jing , Laisk Triin , LaBella Abigail L , Westergaard David , Bacelis …. Jonas , Zhang Ge , Jacobsson Bo

Brief summary: This maternal genome-wide meta-analysis of gestational duration (n=195 555) found 22 associated loci and an enrichment in genes expressed during labour. The related meta-analysis of preterm delivery (18 797 cases, 260 246 controls) revealed seven associated loci and large genetic similarities with gestational duration. Maternal alleles that increase gestational duration had a negative effect on birth weight.Preterm delivery is one...
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ey0016.15-13 | (1) | ESPEYB16

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang , J Li , JB Saucier , Y Feng , Y Jiang , J Sinson , AK McCombs , ES Schmitt , S Peacock , S Chen , H Dai , X Ge , G Wang , CA Shaw , H Mei , A Breman , F Xia , Y Yang , A Purgason , A Pourpak , Z Chen , X Wang , Y Wang , S Kulkarni , KW Choy , RJ Wapner , IB Van den Veyver , A Beaudet , S Parmar , LJ Wong , CM Eng

To read the full abstract: Nat Med. 2019 Mar;25(3):439–447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...
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ey0018.2-14 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.14. Early diagnosed gestational diabetes mellitus is associated with adverse pregnancy outcomes: A prospective cohort study

B Liu , J Cai , Y Xu , Y Long , L Deng , S Lin , J Zhang , J Yang , L Zhong , Y Luo , Y Zhou , Y Zhang , Z Li , H Chen , Z Wang

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...
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ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...
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ey0018.6-13 | Basic Research in Gender Dysphoria | ESPEYB18

6.13. Behavioral and neurobiological effects of GnRH agonist treatment in mice - potential implications for puberty suppression in transgender individuals

C Anacker , E Sydnor , BK Chen , CC LaGamma , JC McGowan , A Mastrodonato , HC Hunsberger , R Shores , RS Dixon , BS McEwen , W Byne , HFL Meyer-Bahlburg , W Bockting , AA Ehrhardt , CA Denny

Neuropsychopharmacology. 2021 Apr;46(5):882–890.doi: 10.1038/s41386-020-00826-1. PMID: 32919399.This mouse study addresses the question of the psychological effects of treatment with the GnRH analogue (GnRHa) leuprolide. Six-week-old, i.e. early-pubertal, male and female mice were injected daily with leuprolide (20 μg) or saline for 6 weeks. The mice were subjected to a number...
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ey0018.11-4 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

KH Wade , BYH Lam , A Melvin , W Pan , LJ Corbin , DA Hughes , K Rainbow , JH Chen , K Duckett , X Liu , J Mokrosiński , A Morseburg , S Neaves , A Williamson , C Zhang , IS Farooqi , GSH Yeo , NJ Timpson , S O'Rahilly

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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