ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 23 of about 288 results

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
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ey0018.5-9 | Translational highlights | ESPEYB18

5.9. Articular cartilage regeneration by activated skeletal stem cells

Murphy Matthew P , Koepke Lauren S , Lopez Michael T , Tong Xinming , Ambrosi Thomas H , Gulati Gunsagar S , Marecic Owen , Wang Yuting , Ransom Ryan C , Hoover Malachia Y , Steininger Holly , Zhao Liming , Walkiewicz Marcin P , Quarto Natalina , Levi Benjamin , Wan Derrick C , Weissman Irving L , Goodman Stuart B , Yang Fan , Longaker Michael T , Chan Charles K F

Nat Med. 2020 Oct;26(10):1583–1592 Abstract: https://pubmed.ncbi.nlm.nih.gov/32807933/In brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...
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ey0018.8-8 | Clinical Trials – New Treatments | ESPEYB18

8.8. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

K Clement , E van den Akker , J Argente , A Bahm , WK Chung , H Connors , K De Waele , IS Farooqi , J Gonneau-Lejeune , G Gordon , K Kohlsdorf , C Poitou , L Puder , J Swain , M Stewart , G Yuan , M Wabitsch , P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators Kuhnen

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...
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ey0018.8-10 | New Genes | ESPEYB18

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

D Eriksson , EC Royrvik , M Aranda-Guillen , AH Berger , N Landegren , H Artaza , AE Hallgren , MA Grytaas , S Strom , E Bratland , IR Botusan , BE Oftedal , L Breivik , M Vaudel , O Helgeland , A Falorni , AP Jorgensen , AL Hulting , J Svartberg , O Ekwall , KJ Fougner , J Wahlberg , BG Nedrebo , P Dahlqvist , PM Knappskog , ASB Wolff , S Bensing , S Johansson , O Kampe , ES Husebye

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addison’s disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...
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ey0018.9-1 | Cancer treatment and the risk of second neoplasia | ESPEYB18

9.1. Risk factors of subsequent central nervous system tumors after childhood and adolescent cancers: findings from the french childhood cancer survivor study

NMY Journy , WS Zrafi , S Bolle , B Fresneau , C Alapetite , RS Allodji , D Berchery , N Haddy , I Kobayashi , M Labbe , H Pacquement , C Pluchart , B Schwartz , V Souchard , C Thomas-Teinturier , C Veres , G Vu-Bezin , I Diallo , F de Vathaire

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133–141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...
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ey0018.9-6 | Surveillance strategies of endocrine complications | ESPEYB18

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

R Roshandel , M van Dijk , A Overbeek , G Kaspers , C Lambalk , C Beerendonk , D Bresters , M van der Heiden-van der Loo , M van den Heuvel-Eibrink , L Kremer , J Loonen , H van der Pal , C Ronckers , W Tissing , B Versluys , F van Leeuwen , M van den Berg , E van Dulmen-den Broeder

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...
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ey0018.10-14 | (1) | ESPEYB18

10.14. Targeted pharmacological therapy restores [beta]-cell function for diabetes remission

S Sachs , A Bastidas-Ponce , S Tritschler , M Bakhti , A Bottcher , MA Sanchez-Garrido , M Tarquis-Medina , M Kleinert , K Fischer , S Jall , A Harger , E Bader , S Roscioni , S Ussar , A Feuchtinger , B Yesildag , A Neelakandhan , CB Jensen , M Cornu , B Yang , B Finan , RD Di Marchi , MH Tschop , FJ Theis , SM Hofmann , TD Muller , H Lickert

Nature Metabolism. 2020;2(2):192–209. doi: 10.1038/s42255-020-0171-3.This experimental mouse study examined whether or not dedifferentiated β cells could be reversed or targeted by pharmacological intervention for diabetes remission. They identified evidence for β-cell dedifferentiation and dysfunction which could be reversed by single and combined pharmacological approach...
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ey0018.11-10 | Mechanism of the year | ESPEYB18

11.10. Intercellular mitochondria transfer to macrophages regulates white adipose tissue homeostasis and is impaired in obesity

JR Brestoff , CB Wilen , JR Moley , Y Li , W Zou , NP Malvin , MN Rowen , BT Saunders , H Ma , MR Mack , BL Hykes , DR Balce , A Orvedahl , JW Williams , N Rohatgi , X Wang , MR McAllaster , SA Handley , BS Kim , JG Doench , BH Zinselmeyer , MS Diamond , HW Virgin , AE Gelman , SL Teitelbaum

Cell Metab 2021;33(2): 270–282.e8. doi: https://doi.org/10.1016/j.cmet.2020.11.008Brestoff et al. show, for the first time, that mitochondria are transferred from adipocytes to macrophages and that this event has an impact on systemic metabolic homeostasis.Within the last years, it has been demonstrated that cells are able to communicate with each other by the exchange of organell...
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ey0018.12-11 | Metabolic Syndrome | ESPEYB18

12.11. The effect of green Mediterranean diet on cardiometabolic risk; a randomised controlled trial

G Tsaban , A Yaskolka Meir , E Rinott , H Zelicha , A Kaplan , A Shalev , A Katz , A Rudich , A Tirosh , I Shelef , I Youngster , S Lebovitz , N Israeli , M Shabat , D Brikner , E Pupkin , M Stumvoll , J Thiery , U Ceglarek , JT Heiker , A Korner , K Landgraf , M von Bergen , M Bluher , MJ Stampfer , I Shai

Heart. 2020 Nov 23:heartjnl-2020-317802. doi: 10.1136/heartjnl-2020-317802. PMID: 33234670.In brief: This parallel-arm trial randomly assigned 294 adults with abdominal obesity/dyslipidemia to 1 of 3 dietary guidelines: healthy diet; Mediterranean diet; or ‘green Mediterranean’ diet. All groups received physical activity guidelines. Weight loss was higher in the two...
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ey0018.14-4 | (1) | ESPEYB18

14.4. CRISPR-Cas9 gene editing for sickle cell disease and [beta]-thalassemia

Frangoul Haydar , Altshuler David , Cappellini M. Domenica , Chen Yi-Shan , Domm Jennifer , Eustace Brenda K , Foell Juergen , de la Fuente Josu , Grupp Stephan , Handgretinger Rupert , Ho Tony W , Kattamis Antonis , Kernytsky Andrew , Lekstrom-Himes Julie , Li Amanda M , Locatelli Franco , Mapara Markus Y , de Montalembert Mariane , Rondelli Damiano , Sharma Akshay , Sheth Sujit , Soni Sandeep , Steinberg Martin H , Wall Donna , Yen Angela , Corbacioglu Selim

N Engl J Med 2021; 384:252–260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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