ISSN 1662-4009 (online)

ey0019.15-14 | Basic Science and Genetics | ESPEYB19

15.14. Population-based penetrance of deleterious clinical variants

IS Forrest , K Chaudhary , HMT Vy , BO Petrazzini , S Bafna , DM Jordan , G Rocheleau , RJF Loos , GN Nadkarni , JH Cho , R Do

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...

ey0017.1-6 | Hypopituitarism: Disease Modeling and New Discoveries | ESPEYB17

1.6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

R Matsumoto , H Suga , T Aoi , H Bando , H Fukuoka , G Iguchi , S Narumi , T Hasegawa , K Muguruma , W Ogawa , Y Takahashi

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

ey0017.3-14 | Thyroid cancer | ESPEYB17

3.14. Preoperative metabolic classification of thyroid nodules using mass spectrometry imaging of fine-needle aspiration biopsies

RJ DeHoog , J Zhang , E Alore , JQ Lin , W Yu , S Woody , C Almendariz , M Lin , AF Engelsman , SB Sidhu , R Tibshirani , J Suliburk , LS Eberlin

To read the full abstract: Proc Natl Acad Sci U S A. 2019;116:21401–21408.This prospective diagnostic study used desorption electrospray ionization mass spectrometry (DESI-MS) to classify thyroid nodules by their metabolic signature, and more precisely their lipid profile. DESI-MS is a technique using charged aerosols of microdroplets which are sprayed onto a surface (e.g. tissue) to desorb and ionize molecules which are then analyzed by MS...

ey0017.5-7 | Translational Highlights | ESPEYB17

5.7. RANKL Inhibition in fibrous dysplasia of bone: A preclinical study in a mouse model of the human disease

B Palmisano , E Spica , C Remoli , R Labella , A Di Filippo , S Donsante , F Bini , D Raimondo , F Marinozzi , A Boyde , P Robey , A Corsi , M Riminucci

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

ey0017.6-17 | Transgender Medicine: Brain and Psychology | ESPEYB17

6.17. Similarity in transgender and cisgender children’s gender development

S Gulgoz , JJ Glazier , EA Enright , DJ Alonso , LJ Durwood , AA Fast , R Lowe , C Ji , J Heer , CL Martin , KR Olson

To read the full abstract: Proc Natl Acad Sci U S A. 2019, Dec 3; 116: 24480-5. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900519/pdf/pnas.201909367.pdfIn a large sample of 317 US American transgender children aged 3–12 years, the authors compared gender outcomes of transgender children with cisgender peers. They also assessed whether the time ...

ey0017.7-1 | Clinical Guidance | ESPEYB17

7.1. Anti-Mullerian hormone and letrozole levels in boys with constitutional delay of growth and puberty treated with letrozole or testosterone

E Kohva , T Varimo , H Huopio , S Tenhola , R Voutilainen , J Toppari , PJ Miettinen , K Vaaralahti , J Viinamaki , JT Backman , M Hero , T Raivio

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

ey0017.9-9 | Premature Aging, Cardiometabolic Fitness and Cardiovascular Damage | ESPEYB17

9.9. Advanced glycation end products and chronic inflammation in adult survivors of childhood leukemia treated with hematopoietic stem cell transplantation

F Felicetti , AS Cento , P Fornengo , M Cassader , R Mastrocola , F D’Ascenzo , F Settanni , A Benso , E Arvat , M Collino , F Fagioli , M Aragno , E Brignardello

To read the full abstract: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...

ey0017.10-5 | (1) | ESPEYB17

10.5. Association of cereal, gluten, and dietary fiber intake with islet autoimmunity and type 1 diabetes

L Hakola , ME Miettinen , E Syrjala , M Akerlund , M-H Takkinen , TE Korhonen , S Ahonen , J Ilonen , J Toppari , R Veijola , J Nevelainen , M Knip , SM Virtanen

To read the full abstract: JAMA Pediatr 2019; 173:953–960.Dietary proteins, such as gluten, have been suggested to serve as triggers of the autoimmune process that leads to type 1 diabetes (T1DM). These authors studied the potential associations of cereal, gluten, and dietary fiber intake with the development of islet autoimmunity (IA) and T1DM.The prospective birth cohort Finnish Type 1 Diabetes Prediction and Preven...

ey0017.10-12 | (1) | ESPEYB17

10.12. Glucose-responsive insulin patch for the regulation of blood glucose in mice and minipigs

Yu Jicheng , Wang Jinqiang , Zhang Yuqi , Chen Guojun , Mao Weiwei , Ye Yanqi , Kahkoska Anna R , Buse John B , Langer Robert , Gu Zhen

To read the full abstract: Nat Biomed Eng. 2020 May;4(5):499–506. doi: 10.1038/s41551-019-0508-y.Glucose-responsive insulin delivery systems that mimic pancreatic endocrine function could enhance health and improve quality of life for people with type 1 and type 2 diabetes with reduced β-cell function. However, insulin delivery systems with rapid in vivo glucose-respon...

ey0017.13-3 | Advocacy, History and Society | ESPEYB17

13.3. Effective coverage measurement in maternal, newborn, child, and adolescent health and nutrition: Progress, future prospects, and implications for quality health systems

AD Marsh , M Muzigaba , T Diaz , J Requejo , D Jackson , D Chou , J Cresswell A , R Guthold , A Moran C , K Strong L , A Banerjee , A Soucat

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...