ISSN 1662-4009 (online)

ey0019.3-13 | Paediatric thyroid cancer | ESPEYB19

3.13. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

YA Lee , H Lee , SW Im , YS Song , DY Oh , HJ Kang , JK Won , KC Jung , D Kwon , EJ Chung , JH Hah , JC Paeng , JH Kim , J Choi , OH Kim , JM Oh , BC Ahn , LJ Wirth , CH Shin , JI Kim , YJ Park

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

ey0017.5-4 | Advances in Clinical Practice | ESPEYB17

5.4. Effects of estrogen replacement on bone geometry and microarchitecture in adolescent and young adult oligoamenorrheic athletes: A randomized trial

KE Ackerman , V Singhal , M Slattery , KT Eddy , ML Bouxsein , H Lee , A Klibanski , M Misra

To read the full abstract: J Bone Miner Res. 2020;35(2):248–260.In brief: This randomized open-label trial in oligoamenorrheic athletes evaluated the effects of transdermal estrogen, oral estrogen or no replacement on bone metabolism, geometry, and microarchitecture. Transdermal estrogen treatment resulted in significantly greater increases in volumetric bone mineral d...

ey0021.10-15 | New Biomarkers | ESPEYB21

10.15. Stress-induced beta cell early senescence confers protection against type 1 diabetes

H Lee , GS Sahin , CW Chen , S Sonthalia , SM Canas , HZ Oktay , al. et

Brief Summary: This experimental study unveiled a new link between the β-cell unfolded protein response and senescence. Deletion of the genes Atf6α or Ire1α in β-cells of non-obese diabetic (NOD) mice prior to insulitis generated a p21-driven early senescence phenotype, which altered the β-cell secretome and promoted protective M2 macrophages recruitment to pancreatic islets. M2 macrophages induced immune surveillance and removal of t...

ey0017.14-14 | (1) | ESPEYB17

14.14. T cell-mediated regulation of the microbiota protects against obesity

C Petersen , R Bell , KA Klag , S-H Lee , R Soto , A Ghazaryan , K Buhrke , HA Ekiz , KS Ost , S Boudina

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

ey0019.8-2 | New Mechanisms | ESPEYB19

8.2. Corticosterone induces discrete epigenetic signatures in the dorsal and ventral hippocampus that depend upon sex and genotype: focus on methylated NR3C1 gene

SG Caradonna , NR Einhorn , V Saudagar , H Khalil , GH Petty , A Lihagen , C LeFloch , FS Lee , H Akil , A Guidotti , BS McEwen , E Gatta , J Marrocco

Transl Psychiatry. 2022; 12(1): 109. PMID: 35296634 https://pubmed.ncbi.nlm.nih.gov/35296634/Brief Summary: This mouse study identified sex and genotype-dependent effects of oral corticosterone on behavioral and physiological outcomes as well as on gene expression and epigenetics in hippocampal subregions.Glucocorticoids exert their effects by binding to glucocorticoid...

ey0021.1-9 | Novel Genes | ESPEYB21

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

J Martinez-Mayer , S Vishnopolska , C Perticarari , LI Garcia , M Hackbartt , M Martinez , J Zaiat , A Jacome-Alvarado , D Braslavsky , A Keselman , I Bergada , R Marino , P Ramirez , NP Garrido , M Ciaccio , Palma MI Di , A Belgorosky , MV Forclaz , G Benzrihen , S D'Amato , ML Cirigliano , M Miras , AP Nunez , L Castro , MS Mallea-Gil , C Ballarino , L Latorre-Villacorta , AC Casiello , C Hernandez , V Figueroa , G Alonso , A Morin , Z Guntsche , H Lee , E Lee , Y Song , MA Marti , MI Perez-Millan

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...