ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 20 of about 308 results

ey0018.11-5 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.5. Obesity treatment effect in danish children and adolescents carrying melanocortin-4 receptor mutations

C Trier , M Hollensted , TM Schnurr , MAV Lund , TRH Nielsen , G Rui , EA Andersson , M Svendstrup , DS Bille , AP Gjesing , CE Fonvig , C Frithioff-Bojsoe , M Balslev-Harder , S Quan , M Gamborg , O Pedersen , L Angquist , JC Holm , T Hansen

Int J Obes (Lond). 2021;45(1):66–76. doi: https://doi.org/10.1038/s41366-020-00673-6This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient treatment program. Carriers of MC4R loss-of-function (LoF) variants showed a lack of improvement in BMI, in contrast to non LoF carriers.As we learn th...
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ey0018.12-6 | Type 2 Diabetes | ESPEYB18

12.6. Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study

M Simchoni , U Hamiel , O Pinhas-Hamiel , I Zucker , T Cukierman-Yaffe , M Lutski , E Derazne , Z Beer , D Behar , L Keinan-Boker , O Mosenzon , D Tzur , A Afek , A Tirosh , I Raz , G Twig

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...
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ey0018.12-9 | Metabolic Syndrome | ESPEYB18

12.9. Sugar-Induced obesity and insulin resistance are uncoupled from shortened survival in drosophila

E Van Dam , LAG van Leeuwen , E Dos Santos , J James , L Best , C Lennicke , AJ Vincent , G Marinos , A Foley , M Buricova , JB Mokochinski , HB Kramer , W Lieb , M Laudes , A Franke , C Kaleta , HM Cocheme

Cell Metab. 2020; 31(4):710–725.e7. doi: 10.1016/j.cmet.2020.02.016. PMID: 32197072.In brief: High-sugar diets cause thirst, obesity and metabolic dysregulation, leading to insulin resistance, the MetS, T2DM and shortened lifespan. This study shows that high sugar diets induce dehydration in adult Drosophila. Water supplementation fully rescued the shortened lifespan, but ...
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ey0018.12-12 | Metabolic Syndrome | ESPEYB18

12.12. Effect of a high protein/low glycaemic index diet on insulin resistance in adolescents with overweight/obesity - a preview randomized clinical trial

E Dorenbos , M Drummen , T Adam , J Rijks , B Winkens , JA Martinez , S Navas-Carretero , G Stratton , N Swindell , P Stouthart , K Mackintosh , M Mcnarry , A Tremblay , M Fogelholm , A Raben , M Westerterp-Plantenga , A Vreugdenhil

Pediatr Obes. 2021 Jan;16(1):e12702. doi: 10.1111/ijpo.12702. PMID: 32681547.In brief: This randomized parallel trial, conducted in the Netherlands, the United Kingdom and Spain, assessed the impact of a high protein/low glycaemic diet vs. medium protein/medium glycaemic diet in reducing insulin resistance in 126 adolescents with overweight/obesity (mean age 13.6±2.2 years). At 2 ...
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ey0019.1-11 | Clinical Papers | ESPEYB19

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

M Franke , AF Daly , L Palmeira , A Tirosh , A Stigliano , E Trifan , FR Faucz , D Abboud , P Petrossians , JJ Tena , E Vitali , AG Lania , JL Gomez-Skarmeta , A Beckers , CA Stratakis , G Trivellin

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...
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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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ey0019.8-10 | New Hope | ESPEYB19

8.10. The brain penetrant PPAR[gamma] agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

L Rodriguez-Pascau , A Vilalta , M Cerrada , E Traver , S Forss-Petter , I Weinhofer , J Bauer , S Kemp , G Pina , S Pascual , U Meya , PL Musolino , J Berger , M Martinell , P Pizcueta

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...
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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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ey0019.10-4 | Mechanisms | ESPEYB19

10.4. Childhood body size directly increases type 1 diabetes risk based on a lifecourse Mendelian randomization approach

TG Richardson , DJM Crouch , GM Power , F Morales-Berstein , E Hazelwood , S Fang , Y Cho , JRJ Inshaw , CC Robertson , C Sidore , F Cucca , SS Rich , JA Todd , Smith G Davey

Nat Commun. 2022 Apr 28;13(1):2337. https://pubmed.ncbi.nlm.nih.gov/35484151/Brief Summary: This Mendelian randomization study analysed genetic data from 454,023 individuals from the UK Biobank and 15,573 type 1 diabetes (T1D) cases from other cohorts and provides strong evidence that larger childhood body size increases T1D risk, independently from body size at birth and during adulthood.<...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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