ISSN 1662-4009 (online)

ey0017.14-11 | (1) | ESPEYB17

14.11. Increased weight loading reduces body weight and body fat in obese subjects - A proof of concept randomized clinical trial

C Ohlsson , E Gidestrand , J Bellman , C Larsson , V Palsdottir , D Hagg , PA Jansson , JO Jansson

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

ey0016.3-3 | Thyroid Hormone Action | ESPEYB16

3.3. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

A Teumer , L Chaker , S Groeneweg , Y Li , Munno C Di , C Barbieri

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

ey0016.3-8 | Congenital Hypothyroidism | ESPEYB16

3.8. Newborn screening for primary congenital hypothyroidism: estimating test performance at different TSH thresholds

RL Knowles , J Oerton , T Cheetham , G Butler , C Cavanagh , L Tetlow , C Dezateux

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

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...

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 ...

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...

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...

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...

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 ...