ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 18 of about 215 results

ey0019.15-10 | Assorted Conditions | ESPEYB19

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

P Kachroo , ID Stewart , RS Kelly , M Stav , K Mendez , A Dahlin , DI Soeteman , SH Chu , M Huang , M Cote , HM Knilhtila , K Lee-Sarwar , M McGeachie , A Wang , AC Wu , Y Virkud , P Zhang , NJ Wareham , EW Karlson , CE Wheelock , C Clish , ST Weiss , C Langenberg , JA Lasky-Su

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...
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ey0017.2-9 | Neonatal Diabetes Mellitus | ESPEYB17

2.9. Long-term metabolic and socio educational outcomes of transient neonatal diabetes: A longitudinal and cross-sectional study

F Le Bourgeois , Baz B Beltrand J , Riveline JP Julla JB , A Simon , I Flechtner , M Ait Djoudi , AL Fauret-Amsellem , Y Vial , R Scharfmann , J Sommet , P Boudou , H Cave , M Polak , JF Gautier , KTNDM Long-Term Follow-Up Study Group Busiah

To read the full abstract: Diabetes Care. 2020 Apr 9. pii: dc190324. doi: 10.2337/dc19-0324. [Epub ahead of print]. PMID: 32273272TransientNeonatalDiabetes (TNDM) develops in the first six months of life, and then remits only to relapse again during adolescence and adulthood. The three main genetic causes of TNDM are: 1) 6q24 abnormalities, 2) activating mutations in genes encoding the ATP-sensi...
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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...
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ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...
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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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ey0017.14-12 | (1) | ESPEYB17

14.12. Brain-Sparing sympathofacilitators mitigate obesity without adverse cardiovascular effects

I Mahu , A Barateiro , E Rial-Pensado , N Martinez-Sanchez , SH Vaz , PMSD Cal , B Jenkins , T Rodrigues , C Cordeiro , MF Costa , R Mendes , E Seixas , MMA Pereira , N Kubasova , V Gres , I Morris , C Temporao , M Olivares , Y Sanz , A Koulman , F Corzana , AM Sebastiao , M Lopez , GJL Bernardes , AI Domingos

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...
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ey0016.1-1 | (1) | ESPEYB16

1.1. Genome-wide association analyses of chronotype in 697, 828 individuals provides insights into circadian rhythms

SE Jones , JM Lane , AR Wood , VT van Hees , J Tyrrell , RN Beaumont , AR Jeffries , HS Dashti , M Hillsdon , KS Ruth , MA Tuke , H Yaghootkar , SA Sharp , Y Jie , WD Thompson , JW Harrison , A Dawes , EM Byrne , H Tiemeier , KV Allebrandt , J Bowden , DW Ray , RM Freathy , A Murray , DR Mazzotti , PR Gehrman , DA Lawlor , TM Frayling , MK Rutter , DA Hinds , R Saxena , MN Weedon

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...
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ey0016.2-10 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB16

2.10. Association of gestational diabetes with maternal disorders of glucose metabolism and childhood adiposity

WL Jr Lowe , DM Scholtens , LP Lowe , A Kuang , M Nodzenski , O Talbot , PM Catalano , B Linder , WJ Brickman , P Clayton , C Deerochanawong , J Hamilton , JL Josefson , M Lashley , JM Lawrence , Y Lebenthal , R Ma , M Maresh , D McCance , WH Tam , DA Sacks , AR Dyer , BE Metzger , Follow-up Study Cooperative Research Group HAPO

JAMA. 2018 Sep 11;320(10):1005–1016. doi: 10.1001/jama.2018.11628.The aims of this study were to assess whether in utero exposure to untreated gestational diabetes (using the IADPSG criteria) is associated with long-term risk of a disorder of glucose metabolism among mothers and greater adiposity among their children at 10 to 14 years post-partum.The Hyperglycem...
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ey0016.12-14 | Lipid Metabolism | ESPEYB16

12.14. An integrative systems genetic analysis of mammalian lipid metabolism

BL Parker , AC Calkin , MM Seldin , MF Keating , EJ Tarling , P Yang , SC Moody , Y Liu , EJ Zerenturk , EJ Needham , ML Miller , BL Clifford , P Morand , MJ Watt , RCR Meex , KY Peng , R Lee , K Jayawardana , C Pan , NA Mellett , JM Weir , R Lazarus , AJ Lusis , PJ Meikle , DE James , TQ de Aguiar Vallim , BG Drew

Nature 2019;567:187–193.URL https://doi.org/10.1038/s41586-019-0984-ySummary: Novel diagnostic and prognostic biomarkers in the blood that can predict early fatty liver disease were identified, using a proteomic and lipidomic-wide systems genetic approach in 107 genetically distinct mouse strains. In addition, the novel lipid-regulatory protein, PSMD9, was identified as...
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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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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