ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 17 of about 292 results

ey0019.15-3 | Obesity | ESPEYB19

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

E Mendes de Oliveira , JM Keogh , F Talbot , E Henning , R Ahmed , A Perdikari , R Bounds , N Wasiluk , V Ayinampudi , I Barroso , J Mokrosinski , D Jyothish , S Lim , S Gupta , M Kershaw , C Matei , P Partha , T Randell , A McAulay , LC Wilson , T Cheetham , EC Crowne , P Clayton , IS Farooqi

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...
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ey0016.2-8 | Neonatal Diabetes Mellitus | ESPEYB16

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

P Bowman , AE Sulen , F Barbetti , J Beltrand , P Svalastoga , E Codner , EH Tessmann , PB Juliusson , T Skrivarhaug , ER Pearson , SE Flanagan , T Babiker , NJ Thomas , MH Shepherd , S Ellard , I Klimes , M Szopa , M Polak , D Iafusco , AT Hattersley , PR Njolstad , Neonatal Diabetes International Collaborative Group. Collaborators (113)

To read the full abstract: Lancet Diabetes Endocrinol. 2018 Aug;6(8)This study describes a 10-year follow-up of a large international multicenter cohort of patients with KCNJ11 permanent neonatal diabetes. It addresses key questions relating to long-term efficacy and safety of sulfonylureas in these patients.The discovery that mutations in the KCNJ11</...
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ey0016.14-12 | (1) | ESPEYB16

14.12. Genome amplification and cellular senescence are hallmarks of human placenta development

P Velicky , G Meinhardt , K Plessl , S Vondra , T Weiss , P Haslinger , T Lendl , K Aumayr , M Mairhofer , X Zhu , B Schutz , RL Hannibal , R Lindau , B Weil , J Ernerudh , J Neesen , G Egger , M Mikula , C Rohrl , AE Urban , J Baker , M Knofler , J Pollheimer

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...
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ey0020.3-16 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.16. A saturated map of common genetic variants associated with human height

L Yengo , S Vedantam , E Marouli , J Sidorenko , E Bartell , S Sakaue , M Graff , AU Eliasen , Y Jiang , S Raghavan , J Miao , JD Arias , SE Graham , RE Mukamel , CN Spracklen , X Yin , SH Chen , T Ferreira , HH Highland , Y Ji , T Karaderi , K Lin , K Lull , DE Malden , C Medina-Gomez , M …(See abstract for full author list) Machado

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...
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ey0020.8-5 | Important for Clinical Practice | ESPEYB20

8.5. Impact of the COVID-19 pandemic on long-term trends in the prevalence of diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes: an international multicentre study based on data from 13 national diabetes registries

NH Birkebaek , C Kamrath , JM Grimsmann , K Aakesson , V Cherubini , K Dovc , C de Beaufort , GT Alonso , JW Gregory , M White , T Skrivarhaug , Z Sumnik , C Jefferies , T Hortenhuber , A Haynes , M De Bock , J Svensson , JT Warner , O Gani , R Gesuita , R Schiaffini , R Hanas , A Rewers , AJ Eckert , RW Holl , O Cinek

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...
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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.<...
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ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...
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ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...
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ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...
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ey0018.1-9 | Genetics | ESPEYB18

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

EJ Lodge , P Xekouki , TS Silva , C Kochi , CA Longui , FR Faucz , A Santambrogio , JL Mills , N Pankratz , J Lane , D Sosnowska , T Hodgson , AL Patist , P Francis-West , F Helmbacher , C Stratakis , CL Andoniadou

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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