Abstract Search

ey0019.1-3 | Basic Science and Stem Cells | ESPEYB19

1.3. Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells

WK Huang , SZH Wong , SR Pather , PTT Nguyen , F Zhang , DY Zhang , Z Zhang , L Lu , W Fang , L Chen , A Fernandes , Y Su , H Song , GL Ming

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

ey0020.2-10 | Long-Acting Growth Hormone (LAGH) | ESPEYB20

2.10. Long-acting PEGylated growth hormone in children with idiopathic short stature

X Luo , S Zhao , Y Yang , G Dong , L Chen , P Li , F Luo , C Gong , Z Xu , X Xu , H Gong , H Du , L Hou , Y Zhong , Q Shi , X Chen , X Chen , L Xu , R Cheng , C Su , Y Ma , L Xu , L Zhang , H Lu

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

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...

ey0020.8-10 | New Paradigms | ESPEYB20

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

X Yuan , R Wang , B Han , C Sun , R Chen , H Wei , L Chen , H Du , G Li , Y Yang , X Chen , L Cui , Z Xu , J Fu , J Wu , W Gu , Z Chen , X Fang , H Yang , Z Su , J Wu , Q Li , M Zhang , Y Zhou , L Zhang , G Ji , F Luo

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

ey0021.12-7 | Genetics of T2D in Children and Adolescents | ESPEYB21

12.7. Genetic architecture and biology of youth-onset type 2 diabetes

SH Kwak , S Srinivasan , L Chen , J Todd , JM Mercader , ET Jensen , J Divers , AK Mottl , C Pihoker , RG Gandica , LM Laffel , E Isganaitis , MW Haymond , LL Levitsky , TI Pollin , JC Florez , J Flannick

Brief Summary: Rare forms of diabetes (‘monogenic diabetes’) are caused by a single rare gene variant, while adult-onset T2D is influenced by thousands of common genetic variants. This study reveals that youth-onset T2D shares some genetic features with both monogenic and typical adult-onset T2D, marked by both common and rare genetic variantsComment: A significant challenge is understanding why the course of T2D in children and teenagers is mo...

ey0021.14-15 | Bone | ESPEYB21

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

Marom Ronit , Zhang Bo , Washington Megan E. , Song I-Wen , Burrage Lindsay C. , Rossi Vittoria C. , Berrier Ava S. , Lindsey Anika , Lesinski Jacob , Nonet Michael L. , Chen Jian , Baldridge Dustin , Silverman Gary A. , Sutton V. Reid , Rosenfeld Jill A. , Tran Alyssa A. , Hicks M. John , Murdock David R. , Dai Hongzheng , Weis MaryAnn , Jhangiani Shalini N. , Muzny Donna M. , Gibbs Richard A. , Caswell Richard , Pottinger Carrie , Cilliers Deirdre , Stals Karen , Undiagnosed Diseases Network , Eyre David , Krakow Deborah , Schedl Tim , Pak Stephen C. , Lee Brendan H.

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...

ESPE Yearbook of Paediatric Endocrinology