ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 5 of about 78 results

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...
0 shares

ey0020.8-12 | New Mechanisms | ESPEYB20

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

Q Ma , Y Xiao , W Xu , M Wang , S Li , Z Yang , M Xu , T Zhang , ZN Zhang , R Hu , Q Su , F Yuan , T Xiao , X Wang , Q He , J Zhao , ZJ Chen , Z Sheng , M Chai , H Wang , W Shi , Q Deng , X Cheng , W Li

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...
0 shares

ey0018.8-9 | Clinical Trials – New Treatments | ESPEYB18

8.9. Efficacy and safety of osilodrostat in patients with Cushing's disease (LINC 3): a multicentre phase III study with a double-blind, randomised withdrawal phase

R Pivonello , M Fleseriu , J Newell-Price , X Bertagna , J Findling , A Shimatsu , F Gu , R Auchus , R Leelawattana , EJ Lee , JH Kim , A Lacroix , A Laplanche , P O'Connell , L Tauchmanova , AM Pedroncelli , BMK Biller

Lancet Diabetes Endocrinol. 2020; 8(9): 748–761.https://pubmed.ncbi.nlm.nih.gov/32730798/The authors report the outcomes from the pivotal phase 3 trial in patients with Cushing’s disease of osilodrostat (a potent oral inhibitor of cytochrome P450 11B1, [mitochondrial 11β-hydroxylase]). Twice-daily osilodrostat rapidly reduced mean 24-h urine free cortisol (UFC) and sustained ...
1 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

ey0019.7-5 | Clinical Guidance | ESPEYB19

7.5. Analysis of early-life growth and age at pubertal onset in US children

IM Aris , W Perng , D Dabelea , JM Ganiban , C Liu , K Marceau , OC Robertson , CW Hockett , NL Mihalopoulos , X Kong , MM Herting , TM O'Shea , ET Jensen , MF Hivert , E Oken

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...
0 shares

ey0019.9-12 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.12. Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT pediatric diseases working party

T Diesch-Furlanetto , A Rovo , JE Galimard , G Szinnai , A Dalissier , P Sedlacek , I Bodova , VK Roussou , BE Gibson , X Poire , F Fagioli , H Pichler , M Faraci , FG Gumy-Pause , JH Dalle , A Balduzzi , P Bader , S Corbacioglu

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...
0 shares

ey0019.12-11 | Hyperlipidemia | ESPEYB19

12.11. Identification and evaluation of a lipid-lowering small compound in preclinical models and in a Phase I trial

H. Wang J, Zhao J, Yan C, Xi C, Wu C, Zhao J, Li F, Ding Y, Zhang R, Qi S, Li X, Liu C, Hou W, Chen H, Wang Y, Wu D, Chen K, Jiang H, Huang H, Liu

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...
0 shares

ey0017.1-4 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.4. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

J Hietamaki , LC Gregory , S Ayoub , AP Iivonen , K Vaaralahti , X Liu , N Brandstack , AJ Buckton , T Laine , J Kansakoski , M Hero , PJ Miettinen , M Varjosalo , E Wakeling , MT Dattani , T Raivio

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...
0 shares

ey0017.7-9 | Basic Science | ESPEYB17

7.9. The dynamic transcriptional cell atlas of testis development during human puberty

J Guo , X Nie , M Giebler , H Mlcochova , Y Wang , EJ Grow , Connect Donor , R Kim , M Tharmalingam , G Matilionyte , C Lindskog , DT Carrell , RT Mitchell , A Goriely , JM Hotaling , BR Cairns

To read the full abstract: Cell Stem Cell vol. 26,2 (2020): 262–276.e4. doi: https://www.sciencedirect.com/science/article/pii/S1934590919305235?via%3DihubThis paper describes a transcriptional analysis of human spermatogonial stem cells during puberty and the involvement of testosterone in Sertoli cell maturation.The...
0 shares

ey0016.11-6 | Tracking, Programming, and Epigenetics | ESPEYB16

11.6. Adipose tissue mitochondrial dysfunction in human obesity is linked to a specific DNA methylation signature in adipose-derived stem cells

M Ejarque , V Ceperuelo-Mallafre , C Serena , E Maymo-Masip , X Duran , A Diaz-Ramos , M Millan-Scheiding , Y Nunez-Alvarez , C Nunez-Roa , P Gama , PM Garcia-Roves , MA Peinado , JM Gimble , A Zorzano , J Vendrell , S Fernandez-Veledo

To read the full abstract: Int J Obes (Lond). 2019;43(6):1256–1268This epigenome-wide association study in stromal/stem cells (ASCs), derived from subcutaneous adipose tissue samples of lean and obese subjects, revealed a specific DNA methylation signature in adipocyte precursors associated with obesity, which has a significant impact on the metabolic phenotype and the mitochondrial...
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