ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 16 of about 788 results

ey0019.9-14 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.14. Effect of Genetic Variation in CYP450 on gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene approach: results from the PanCareLIFE study

der Perk MEM van , L Broer , Y Yasui , LL Robison , MM Hudson , JSE Laven , der Pal HJ van , WJE Tissing , B Versluys , D Bresters , GJL Kaspers , Vries ACH de , CB Lambalk , A Overbeek , JJ Loonen , CCM Beerendonk , J Byrne , C Berger , E Clemens , U Dirksen , Winther J Falck , SD Fossa , D Grabow , M Muraca , M Kaiser , T Kepak , J Kruseova , D Modan-Moses , C Spix , O Zolk , P Kaatsch , JH Krijthe , LCM Kremer , RJ Brooke , JL Baedke , RHN van Schaik , JN van den Anker , AG Uitterlinden , AME Bos , FE van Leeuwen , E van Dulmen-den Broeder , ALF van der Kooi , MM van den Heuvel-Eibrink

On Behalf Of The PanCareLIFE Consortium. m.e.m.vanderperk@prinsesmaximacentrum.nl Cancers (Basel). 2021; 13: 4598. PMID: 34572825.Brief Summary: This cohort study of female childhood cancer survivors (CCS) identified associations between specific nucleotide polymorphisms (SNP) in cytochrome P450 (CYP450) enzymes, which metabolize alkylating agents (AA), and variability in AA-induced o...
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ey0017.11-9 | Body Weight Regulation and Insulin Sensitivity | ESPEYB17

11.9. Chronic mirabegron treatment increases human brown fat, HDL cholesterol, and insulin sensitivity

AE O’Mara , JW Johnson , JD Linderman , RJ Brychta , S McGehee , LA Fletcher , YA Fink , D Kapuria , TM Cassimatis , N Kelsey , C Cero , ZA Sater , F Piccinini , AS Baskin , BP Leitner , H Cai , CM Millo , W Dieckmann , M Walter , NB Javitt , Y Rotman , PJ Walter , M Ader , RN Bergman , P Herscovitch , KY Chen , AM Cypess

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...
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ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...
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ey0016.7-3 | Basic Science | ESPEYB16

7.3. Metabolic regulation of female puberty via hypothalamic AMPK-kisspeptin signaling

J Roa , A Barroso , F Ruiz-Pino , MJ Vazquez , P Seoane-Collazo , N Martinez-Sanchez , D Garcia-Galiano , T Ilhan , R Pineda , S Leon , M Manfredi-Lozano , V Heras , M Poutanen , JM Castellano , F Gaytan , C Dieguez , L Pinilla , M Lopez , M Tena-Sempere

To read the full abstract: Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10758–E10767.The authors show for the first time that central AMP-activated protein kinase (AMPK), the major cellular energy sensor, interplays with Kiss1 to control puberty onset.AMPK is an indispensable cellular energy sensor (1). Beside its ability to directly sense ener...
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ey0016.15-15 | (1) | ESPEYB16

15.15. Irisin mediates effects on bone and fat via [alpha]V integrin receptors

H Kim , CD Wrann , M Jedrychowski , S Vidoni , Y Kitase , K Nagano , C Zhou , J Chou , VA Parkman , SJ Novick , TS Strutzenberg , BD Pascal , PT Le , DJ Brooks , AM Roche , KK Gerber , L Mattheis , W Chen , H Tu , ML Bouxsein , PR Griffin , R Baron , CJ Rosen , LF Bonewald , BM Spiegelman

To read the full abstract: Cell. 2018 Dec 13;175(7):1756–1768.e17.Irisin, a cytokine secreted by muscle during exercise, effects bone resorption and the differentiation of preadipocytes into thermogenic brown fat cells by displacing tethers between the cell and extracellular matrix molecules. Physical activity can reverse age-dependent decline in skeletal muscle, preventing osteopor...
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ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...
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ey0021.14-17 | YES contributions by Dr. Simge Eren (14.17 and 14.18) | ESPEYB21

14.17. A maternal brain hormone that builds bone

Babey Muriel E. , Krause William C. , Chen Kun , Herber Candice B. , Torok Zsofia , Nikkanen Joni , Rodriguez Ruben , Zhang Xiao , Castro-Navarro Fernanda , Wang Yuting , Wheeler Erika E. , Villeda Saul , Leach J. Kent , Lane Nancy E. , Scheller Erica L. , Chan Charles K. F. , Ambrosi Thomas H. , Ingraham Holly A.

Brief Summary:This study shows that brain-derived cellular communication network factor 3 (CCN3) is a potent osteoanabolic hormone to enhance bone formation in lactating female mice. CCN3 is produced by KISS1 neurons in the brain, and operates through a unique signaling pathway that interacts with bone-forming osteoblasts leading to increased bone formation.During lactation, the increased calcium demand for milk production leads to considerable bone loss...
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ey0017.6-11 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.11. Disorder of sex development with germ cell tumors: Which is uncovered first?

C Faure-Conter , D Orbach , B Fresneau , C Verite , J Bonneau , E Thebaud , M Poiree , S Thouvenin , C Pluchart , PY Mure , F Dijoud , Y Morel

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...
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ey0015.10-16 | Psychology and quality of life | ESPEYB15

10.16 Factors associated with diabetes-specific health-related quality of life in youth with T1DM: the global TEENs study

BJ Anderson , LM Laffel , C Domenger , T Danne , M Phillip , C Mazza , R Hanas , S Waldron , RW Beck , F Calvi-Gries , C Mathieu

To read the full abstract: Diabetes Care. 2017;40:1002-1009Quality of life (QOL) measures have increasingly been considered as end-points of medical interventions. Both general QOL and health- and disease-specific quality of life can be assessed using well defined and validated questionnaires. The TEENs study is an international, cross-sectional study of youth with T1DM. 5,887 participants were follo...
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ey0021.9-2 | Fertility Issues | ESPEYB21

9.2. Effects of radiation therapy on the female reproductive tract in childhood cancer survivors: a PENTEC comprehensive review

C Hill-Kayser , E Yorke , A Jackson , C Gracia , J Ginsberg , K Keene , C Ronckers , ML Metzger , Z Li , LS Constine , CH Hua

Brief Summary: This paper reviewed the toxicity of radiation therapy (RT) on ovarian, uterine and vaginal tissue in childhood cancer survivors (CCSs), using data published from 1970 to 2017. Overall, 11 studies reported data on ovarian damage, 8 on uterine volume related to treatment, and 3 on vaginal effects. Most studies did not report accurate dosimetric data and dose-volume relationships, and the confounder role of chemotherapy was not considered. In general, published dat...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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