ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 22 of about 341 results

ey0019.3-7 | Congenital hypothyroidism | ESPEYB19

3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age

MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...
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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...
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ey0019.5-8 | Advances in clinical practice | ESPEYB19

5.8. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

JE Hoover-Fong , KJ Schulze , AY Alade , MB Bober , E Gough , SS Hashmi , JT Hecht , JM Legare , ME Little , P Modaff , RM Pauli , DF Rodriguez-Buritica , ME Serna , C Smid , C Liu , J McGready

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...
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ey0019.6-1 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.1. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

A Nordenstrom , SF Ahmed , den Akker E van , J Blair , M Bonomi , C Brachet , LHA Broersen , der Grinten HL Claahsen-van , AB Dessens , A Gawlik , CH Gravholt , A Juul , C Krausz , T Raivio , A Smyth , P Touraine , D Vitali , OM Dekkers

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...
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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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ey0019.8-12 | New Paradigms | ESPEYB19

8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

G Garcia-Eguren , M Gonzalez-Ramirez , P Vizan , O Giro , A Vega-Beyhart , L Boswell , M Mora , I Halperin , F Carmona , M Gracia , G Casals , M Squarcia , J Ensenat , O Vidal , Croce L Di , FA Hanzu

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....
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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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ey0019.10-7 | New paradigms | ESPEYB19

10.7. Circulating C-peptide levels in living children and young people and pancreatic beta cell loss in pancreas donors across type 1 diabetes disease duration

ALJ Carr , JRJ Inshaw , CS Flaxman , P Leete , RC Wyatt , LA Russell , M Palmer , D Prasolov , T Worthington , B Hull , LS Wicker , DB Dunger , RA Oram , NG Morgan , JA Todd , SJ Richardson , REJ Besser

Diabetes. 2022;71:1591-1596. https://pubmed.ncbi.nlm.nih.gov/35499624/Brief Summary: This cross-sectional study compared trends in plasma C-peptide decline in 4,076 young people with type 1 diabetes (T1D), with trends in beta-cell loss in 235 pancreas donors. As expected, C-peptide declined over time, and this was particularly marked in children with T1D younger than 7 years. Of interest, p...
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ey0019.11-2 | Genetic obesity: findings in clinical cohorts – how to interpret results? | ESPEYB19

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

S Saeed , QM Janjua , A Haseeb , R Khanam , E Durand , E Vaillant , L Ning , A Badreddine , L Berberian , M Boissel , S Amanzougarene , M Canouil , M Derhourhi , A Bonnefond , M Arslan , P Froguel

p.froguel@imperial.ac.uk Diabetes 2022;71:694–705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...
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ey0019.11-5 | New findings in adipose tissue biology | ESPEYB19

11.5. Insulin directly regulates the circadian clock in adipose tissue

N Tuvia , O Pivovarova-Ramich , V Murahovschi , S Luck , A Grudziecki , AC Ost , M Kruse , VJ Nikiforova , M Osterhoff , P Gottmann , O Gogebakan , C Sticht , N Gretz , M Schupp , A Schurmann , N Rudovich , AFH Pfeiffer , A Kramer

achim.kramer@charite.de Diabetes 2021;70:1985–1999http://www.ncbi.nlm.nih.gov/pubmed/34226282Brief Summary: This study analyzed gene expression in subcutaneous adipose tissue samples of adults with obesity collected before and after the hyperinsulinemic–euglycemic clamp or control saline infusion. They demonstrate that insulin regulat...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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