ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 12 of about 197 results

ey0018.14-7 | (1) | ESPEYB18

14.7. Inherent mosaicism and extensive mutation of human placentas

Coorens Tim H H , Oliver Thomas R W , Sanghvi Rashesh , Sovio Ulla , Cook Emma , Vento-Tormo Roser , Haniffa Muzlifah , Young Matthew D , Rahbari Raheleh , Sebire Neil , Campbell Peter J , Charnock-Jones D Stephen , Smith Gordon CS , Behjati Sam

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...
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ey0019.1-6 | Genetics | ESPEYB19

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics , C Smith , H Bando , AAL Jorge , D Rockstroh-Lippold , SA Vishnopolska , F Castinetti , M Maksutova , LRS Carvalho , J Hoppmann , Mayer J Martinez , F Albarel , D Braslavsky , A Keselman , I Bergada , MA Marti , A Saveanu , A Barlier , Jamra R Abou , MH Guo , A Dauber , M Nakaguma , BB Mendonca , SN Jayakody , AB Ozel , Q Fang , Q Ma , JZ Li , T Brue , Millan MI Perez , IJP Arnhold , R Pfaeffle , JO Kitzman , SA Camper

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...
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ey0019.13-2 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

13.2. A scoping review of the use of e-learning and e-consultation for healthcare workers in low- and middle-income countries and their potential complementarity

A Ionescu , PGM de Jong , SLS Drop , SC van Kampen

s.l.s.drop@erasmusmc.nl J Am Medical Informatics Assoc 2022; 29: 713–722. doi: 10.1093/jamia/ocab271Brief Summary: This scoping review found that data remain scarce on the potential synergy between e-learning (EL) training for healthcare workers (HCWs) and provider-to-HCW e-consultation (EC).Both e-learning (EL) training ...
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ey0019.13-14 | Endocrinology | ESPEYB19

13.14. Invaluable role of consanguinity in providing insight into paediatric endocrine conditions: lessons learnt from congenital hyperinsulinism, monogenic diabetes, and short stature

SA Amaratunga , TH Tayeb , P Dusatkova , S Pruhova , J Lebl

shenali.amaratunga@fnmotol.cz Horm Res Paediatr 2022; 95:1–11. doi: 10.1159/000521210Brief Summary: This review highlights the value of consanguinity in the discovery of novel genes for three endocrine conditions with increasing pathophysiological complexity: congenital hyperinsulinism, monogenic diabetes and short stature.<p class="abstex...
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ey0017.2-16 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB17

2.16. Lactational metformin exposure programs offspring white adipose tissue glucose homeostasis and resilience to metabolic stress in a sex-dependent manner

Z Carlson , H Hafner , M Mulcahy , K Bullock , A Zhu , D Bridges , E Bernal-Mizrachi , B Gregg

To read the full abstract: Am J Physiol Endocrinol Metab. 2020 May 1;318(5):E600–E612. doi: 10.1152/ajpendo.00473.2019. Epub 2020 Mar 10. PMID: 32154743The window of lactation is a critical period during which nutritional and environmental exposures may impact lifelong risks of metabolic diseases (such as type 2 diabetes and obesity). Significant organ and tissue development, organ...
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ey0016.2-13 | Maternal Obesity and Long-term Infant Consequences | ESPEYB16

2.13. Maternal obesity and the human milk metabolome: associations with infant body composition and postnatal weight gain

E Isganaitis , S Venditti , TJ Matthews , C Lerin , EW Demerath , DA Fields

To read the full abstract: Am J Clin Nutr. 2019 Apr 4The study analyzed relationships between maternal obesity and human milk metabolites, infant body composition, and postnatal weight gain.Maternal obesity is one of the strongest predictors of childhood obesity. Although the mechanism/s by which this obesity risk is transmitted to the offspring are not known diffe...
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ey0016.6-8 | Gender Dysphoria in DSD | ESPEYB16

6.8. Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

R Loch Batista , M Inacio , IJ Prado Arnhold , NL Gomes , JA Diniz Faria , D Rodrigues de Moraes , EM Frade Costa , S Domenice , B Bilharinho Mendonca

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender ...
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ey0016.8-14 | New Hope | ESPEYB16

8.14. A report on state-wide implementation of newborn screening for X-linked adrenoleukodystrophy

K Wiens , SA Berry , H Choi , A Gaviglio , A Gupta , A Hietala , D Kenney-Jung , T Lund , W Miller , EI Pierpont , G Raymond , H Winslow , HA Zierhut , PJ Orchard

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...
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ey0016.14-16 | (1) | ESPEYB16

14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink , DN Magnusdottir , OT Magnusson , NJ Walker , TJ Morris , A Sigurdsson , GH Halldorsson , SA Gudjonsson , P Melsted , H Ingimundardottir , S Kristmundsdottir , KF Alexandersson , A Helgadottir , J Gudmundsson , T Rafnar , I Jonsdottir , H Holm , GI Eyjolfsson , O Sigurdardottir , I Olafsson , G Masson , DF Gudbjartsson , U Thorsteinsdottir , BV Halldorsson , SN Stacey , K Stefansson

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...
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ey0015.2-4 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

D Giri , ML Vignola , A Gualtieri , V Scagliotti , P McNamara , M Peak , M Didi , C Gaston-Massuet , S Senniappan

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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