ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 18 of about 269 results

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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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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ey0019.15-5 | Diabetes | ESPEYB19

15.5. Trends in prevalence of type 1 and type 2 diabetes in children and adolescents in the US, 2001-2017

JM Lawrence , J Divers , S Isom , S Saydah , G Imperatore , C Pihoker , SM Marcovina , EJ Mayer-Davis , RF Hamman , L Dolan , D Dabelea , DJ Pettitt , AD Liese , Group SfDiYS

JAMA. 2021;326(8):717-27. doi: 10.1001/jama.2021.11165.PubMed ID: 34427600Brief summary: This large repeated cross-sectional study identified all individuals aged <20 years with physician-diagnosed diabetes in 6 areas in the US in 2001, 2009, and 2017. Over these 16 years, the prevalence of Type 1 diabetes (T1D) increased by 45% (95% CI, 40%–50%) and the prevalence of Type 2 diabetes...
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ey0017.1-1 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

LC Gregory , CB Ferreira , SK Young-Baird , HJ Williams , M Harakalova , G van Haaften , SA Rahman , C Gaston-Massuet , D Kelberman , Sgene GO , W Qasim , SA Camper , TE Dever , P Shah , ICAF Robinson , MT Dattani

To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...
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ey0017.1-3 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

Tahoun Mona , Chandler Jennifer C , Ashton Emma , Haston Scott , Hannan Athia , Kim Ji Soo , D’Arco Felipe , Bockenhauer D , Anderson G , Lin Meei-Hua , Marzouk Salah , Saied Marwa H , Miner Jeffrey H , Dattani Mehul T , Waters Aoife M

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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