ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0018.9-5 | Surveillance strategies of endocrine complications | ESPEYB18

9.5. Beyond premature ovarian Insufficiency: staging reproductive aging in adolescent and young adult cancer survivors.

ACO Medica , BW Whitcomb , K Shliakhsitsava , AC Dietz , K Pinson , C Lam , SAD Romero , P Sluss , MD Sammel , HI Su

J Clin Endocrinol Metab. 2021;106: e1002–e1013. https://pubmed.ncbi.nlm.nih.gov/33141175/This cross-sectional study applied a commonly used system to classify reproductive aging (Stages of Reproductive Aging Workshop +10 or ‘STRAW +10’) to 338 adolescents and young adult (AYA) cancer survivors (1). The study aimed to evaluate if STRAW +10 correctly identifies premature ovaria...
0 shares

ey0015.1-8 | New mouse model | ESPEYB15

1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

J Polex-Wolf , BY Lam , R Larder , J Tadross , D Rimmington , F Bosch , VJ Cenzano , E Cenzano , MK Ma , K Rainbow , AP Coll , S O'Rahilly , GS Yeo

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...
0 shares

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...
0 shares

ey0018.14-8 | (1) | ESPEYB18

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...
0 shares

ey0016.14-17 | (1) | ESPEYB16

14.17. Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

S Bhattacharya , J Li , A Sockell , MJ Kan , FA Bava , SC Chen , MC Avila-Arcos , X Ji , E Smith , NB Asadi , RS Lachman , HYK Lam , CD Bustamante , AJ Butte , GP Nolan

To read the full abstract: Genome Res 2018;28:423–431The discovery of a mummified humanoid female skeleton on a shelf in a building in La Noria, Chile in 2003 created enormous scientific and popular interest. Its highly unusual appearance included a length of only 6 inches despite a bone age of 6–7 years old, marked turricephaly (a cone-shaped top of the skull), and reduced number...
0 shares

ey0017.10-13 | (1) | ESPEYB17

10.13. Six-month randomized, multicenter trial of closed-loop control in type 1 diabetes

SA Brown , BP Kovatchev , D Raghinaru , JW Lum , BA Buckingham , YC Kudva , LM Laffel , CJ Levy , JE Pinsker , RP Wadwa , E Dassau , FJ 3rd Doyle , SM Anderson , MM Church , V Dadlani , L Ekhlaspour , GP Forlenza , E Isganaitis , DW Lam , C Kollman , RW Beck , iDCL Trial Research Group.

To read the full abstract: N Engl J Med. 2019 Oct 31;381(18):1707–1717. doi: 10.1056/NEJMoa1907863. PMID: 31618560Despite advances in diabetes care, attaining good glycemic outcomes in patients with type 1 diabetes (T1DM) remains challenging and often is not achieved. For example, the targets set by the American Diabetes Association are met in only a minority of patients. It is hoped th...
0 shares

ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...
0 shares

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more