ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 8 of about 112 results

ey0020.7-14 | Long-Term Surveillance for Endocrine Complications in Childhood Cancer Survivors | ESPEYB20

7.14. Hypothalamic-pituitary and other endocrine surveillance among childhood cancer survivors

L van Iersel , RL Mulder , C Denzer , LE Cohen , HA Spoudeas , LR Meacham , E Sugden , AYN Schouten-van Meeteren , EW Hoving , RJ Packer , GT Armstrong , S Mostoufi-Moab , AM Stades , D van Vuurden , GO Janssens , C Thomas-Teinturier , RD Murray , N Di Iorgi , SJCMM Neggers , J Thompson , AA Toogood , H Gleeson , C Follin , E Bardi , L Torno , B Patterson , V Morsellino , G Sommer , SC Clement , D Srivastava , CE Kiserud , A Fernandez , K Scheinemann , S Raman , KCJ Yuen , WH Wallace , LS Constine , R Skinner , MM Hudson , LCM Kremer , W Chemaitilly , HM van Santen

Brief summary: In this extensive and updated review, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) report expert consensus-based guidelines that harmonize recommendations for surveillance of endocrine disorders in childhood cancer survivors.This interdisciplinary panel of 42 international experts formulated new surveillance recommendations for hypothalamic–pituitary (HP) dysfunction. Existing IGHG surveillan...
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ey0020.10-7 | New Drugs for Children with T2DM | ESPEYB20

10.7. Maternal diabetes in youth-onset type 2 diabetes is associated with progressive dysglycemia and risk of complications

RD Shah , SD Chernausek , L El Ghormli , ME Geffner , J Keady , MM Kelsey , R Farrell , B Tesfaldet , JB Tryggestad , M Van Name , E Isganaitis

Brief summary: This analysis of data from the TODAY study examined the impact of parental diabetes on outcomes in young individuals with T2D during over 12 years of follow-up. This novel observation demonstrates that parental diabetes affects not only earlier T2D onset, but also more rapid long-term progression and more complications.Comment: This study showed that T2D diagnosis in either parent was associated with younger age at T2D diagnosis in their c...
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ey0017.3-12 | Clinical trials for thyroid disease | ESPEYB17

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

S Groeneweg , RP Peeters , C Moran , A Stoupa , F Auriol , D Tonduti , A Dica , L Paone , K Rozenkova , J Malikova , A van der Walt , IFM de Coo , A McGowan , G Lyons , FK Aarsen , D Barca , IM van Beynum , MM van der Knoop , J Jansen , M Manshande , RJ Lunsing , S Nowak , CA den Uil , MC Zillikens , FE Visser , P Vrijmoeth , MCY de Wit , NI Wolf , A Zandstra , G Ambegaonkar , Y Singh , YB de Rijke , M Medici , ES Bertini , S Depoorter , J Lebl , M Cappa , L De Meirleir , H Krude , D Craiu , F Zibordi , I Oliver Petit , M Polak , K Chatterjee , TJ Visser , WE Visser

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695–706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid – enters target cells in an MCT8 independe...
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ey0018.2-13 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.13. Predictors of neonatal adiposity and associations by fetal sex in women with gestational diabetes mellitus and normal glucose-tolerant women

K Benhalima , A De Landtsheer , P Van Crombrugge , C Moyson , J Verhaeghe , H Verlaenen , C Vercammen , T Maes , E Dufraimont , C De Block , Y Jacquemyn , A Laenen , R Devlieger , C Minschart , C Mathieu

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...
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ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...
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ey0019.12-4 | New data on complications of children with T2DM | ESPEYB19

12.4. Insulinopathies of the brain? Genetic overlap between somatic insulin-related and neuropsychiatric disorders

J. Fanelli G, Franke B, De Witte W, Ruisch IH, Haavik J, van Gils V, Jansen WJ, Vos SJB, Lind L, Buitelaar JK, Banaschewski T, Dalsgaard S, Serretti A, Mota NR, Poelmans G, Bralten

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...
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ey0019.14-14 | New treatments | ESPEYB19

14.14. A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

Zhukouskaya Volha V , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...
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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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ey0017.6-14 | Differences/Disorders of Sex Development: Psychology and Mental Health | ESPEYB17

6.14. Mental health of a large group of adults with disorders of sex development in six European countries

ALC De Vries , R Roehle , L Marshall , L Frisen , TC van de Grift , BPC Kreukels , C Bouvattier , B Kohler , U Thyen , A Nordenstrom , M Rapp , PT Cohen-Kettenis , Group dsd-LIFE

To read the full abstract: Psychosom Med. 2019, Sep; 81: 629–40. doi: https://www.ncbi.nlm.nih.gov/pubmed/31232913The cross-sectional European dsd-LIFE questionnaire study assessed self-reported health outcomes, including psychiatric diagnoses and symptoms, sexuality (1) and body image (2) in 1040 adolescents and adults with DSD from six European countries. It compared mental health...
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ey0016.3-6 | Thyroid and Pregnancy | ESPEYB16

3.6. Association of maternal iodine status with child IQ: a meta-analysis of individual-participant data

D Levie , TIM Korevaar , SC Bath , M Murcia , M Dineva , S Llop , M Espada , Herwaarden AE van , Rijke YB de , JM Ibarluzea , J Sunyer , H Tiemeier , MP Rayman , M Guxens , RP Peeters

To read the full abstract: J Clin Endocrinol Metab. 2019 Mar 28. pii: jc.2018-02559. [Epub ahead of print]This meta-analysis aimed to define the effect of mild to moderate iodine deficiency on child neurological outcome. The authors combined data from three large prospective national studies on 6180 mother child pairs with available urinary iodine and creatinine concentrations in pregnan...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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