ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0019.2-17 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB19

2.17. Persistence of risk for type 2 diabetes after gestational diabetes mellitus

MV Diaz-Santana , KM O'Brien , YM Park , DP Sandler , CR Weinberg

Diabetes Care. 2022 Apr 1;45(4):864-870. doi: 10.2337/dc21-1430. PMID: 35104325.Brief Summary: This study followed up a nationwide cohort of pregnant women (with and without gestational diabetes, GDM) and assessed their risk of developing type 2 diabetes mellitus up to 10 years later. The risk of developing type 2 diabetes increased with the number of GDM pregnancies.About 6%...
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ey0019.5-9 | Translational highlights | ESPEYB19

5.9. PTH and FGF23 exert interdependent effects on renal phosphate handling: evidence from patients with hypoparathyroidism and hyperphosphatemic familial tumoral calcinosis treated with synthetic human PTH 1-34

D Ovejero , IR Hartley , LF de Castro Diaz , E Theng , X Li , RI Gafni , MT Collins

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...
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ey0017.13-3 | Advocacy, History and Society | ESPEYB17

13.3. Effective coverage measurement in maternal, newborn, child, and adolescent health and nutrition: Progress, future prospects, and implications for quality health systems

AD Marsh , M Muzigaba , T Diaz , J Requejo , D Jackson , D Chou , J Cresswell A , R Guthold , A Moran C , K Strong L , A Banerjee , A Soucat

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...
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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...
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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...
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ey0016.2-3 | Neonatal Hypoglycaemia | ESPEYB16

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

K Grand , C Gonzalez-Gandolfi , AM Ackermann , D Aljeaid , E Bedoukian , LM Bird , DD De Leon , J Diaz , RJ Hopkin , SP Kadakia , B Keena , K Klein , I Krantz , E Leon , K Lord , C McDougall , L Medne , CM Skraban , CA Stanley , J Tarpinian , E Zackai , MA Deardorff , JM Kalish

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...
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ey0019.4-9 | New Perspectives | ESPEYB19

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montane , S Benito-Sanz , M Aza-Carmona , F Diaz-Gonzalez , S Modamio-Hoybjor , la Torre C De , J Nevado , P Ruiz-Ocana , C Bezanilla-Lopez , P Prieto , P Bahillo-Curieses , A Carcavilla , I Mulero-Collantes , AC Barreda-Bonis , J Cruz-Rojo , J Ramirez-Fernandez , de la Vega JA Bermudez , AM Travess , J Gonzalez de Buitrago Amigo , A Del Pozo , E Vallespin , M Solis , C Goetz , A Campos-Barros , F Santos-Simarro , I Gonzalez-Casado , P Ros-Perez , M Parron-Pajares , KE Heath

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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