ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 18 of about 293 results

ey0019.3-6 | Congenital hypothyroidism | ESPEYB19

3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders

K Perri , Mori L De , D Tortora , MG Calevo , AEM Allegri , F Napoli , G Patti , D Fava , M Crocco , M Schiavone , E Casalini , M Severino , A Rossi , Iorgi N Di , R Gastaldi , M Maghnie

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...
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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...
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ey0019.8-12 | New Paradigms | ESPEYB19

8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

G Garcia-Eguren , M Gonzalez-Ramirez , P Vizan , O Giro , A Vega-Beyhart , L Boswell , M Mora , I Halperin , F Carmona , M Gracia , G Casals , M Squarcia , J Ensenat , O Vidal , Croce L Di , FA Hanzu

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....
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ey0019.9-11 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.11. Assessment of the architecture and integrity of frozen-thawed testicular tissue from (pre)pubertal boys with cancer

Rives-Feraille A. , Liard A. , Bubenheim M. , Barbotin A.L. , Giscard d'Estaing S. , Mirallie S. , Ancelle A. , Roux C. , Brugnon F. , Greze V. , Daudin M. , Willson-Plat G. , Dubois R. , Sibert L. , Schneider P. , Rives N.

nathalie.rives@chu-rouen.fr Andrology. 2022; 10: 279–290. PMID: 34628730.Brief Summary: This multicentric prospective study performed an accurate evaluation of testicular tissue after frozen-thawing to investigate if this testicular tissue freezing (TTF) alters testicular architecture and integrity in pre-pubertal and pubertal boys with cancer. Promising histological outcomes were found. ...
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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=...
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ey0019.10-2 | Reviews | ESPEYB19

10.2. Screening for type 1 diabetes in the general population: a status report and perspective

EK Sims , REJ Besser , C Dayan , Rasmussen C Geno , C Greenbaum , KJ Griffin , W Hagopian , M Knip , AE Long , F Martin , C Mathieu , M Rewers , AK Steck , JM Wentworth , SS Rich , O Kordonouri , AG Ziegler , KC Herold

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...
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ey0019.10-14 | Pathogenesis | ESPEYB19

10.14. An autoimmune stem-like CD8 T cell population drives type 1 diabetes

SV Gearty , F Dundar , P Zumbo , G Espinosa-Carrasco , M Shakiba , FJ Sanchez-Rivera , ND Socci , P Trivedi , SW Lowe , P Lauer , N Mohibullah , A Viale , TP DiLorenzo , D Betel , A Schietinger

Nature 2022;602(7895):156-161. https://pubmed.ncbi.nlm.nih.gov/34847567/Brief Summary: This study used a well-characterized mouse model of type 1 diabetes (T1D), the non-obese diabetic mouse (NOD), to examine the fate of CD8 T cells over the 5–30 week course of the disease. They found a stem-like autoimmune progenitor population in the pancreatic draining lymph nodes, which can self-re...
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ey0019.11-6 | New findings in adipose tissue biology | ESPEYB19

11.6. Obesity and hyperinsulinemia drive adipocytes to activate a cell cycle program and senesce

Q Li , CE Hagberg , HS Cascales , S Lang , MT Hyvonen , F Salehzadeh , P Chen , I Alexandersson , E Terezaki , MJ Harms , M Kutschke , N Arifen , N Kramer , M Aouadi , C Knibbe , J Boucher , A Thorell , KL Spalding

kirsty.spalding@ki.se Nat Med 2021; 27(11): 1941–1953 doi: 10.1038/s41591-021-01501-8Brief Summary: This study analysed adipocytes from obese and hyperinsulinemic adults. They demonstrate that obesity is associated with the induction of a cell cycle program in mature adipocytes, leading to so-called endoreplication, as a strategy to remain fu...
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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...
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ey0019.15-6 | New Hormones | ESPEYB19

15.6. A hormone complex of FABP4 and nucleoside kinases regulates islet function

KJ Prentice , J Saksi , LT Robertson , GY Lee , KE Inouye , K Eguchi , A Lee , O Cakici , E Otterbeck , P Cedillo , P Achenbach , AG Ziegler , ES Calay , F Engin , GS Hotamisligil

Nature. 2021;600(7890):720-6. doi: 10.1038/s41586-021-04137-3.PubMed ID: 34880500Brief summary: This mouse study identifies FABP4 (‘Fabkin’) as a new fat-derived hormone that regulates insulin-producing beta cells in the pancreas.We have learnt over the recent years that body fat is not simply a passive energy storage tissue, but instead secretes a number o...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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