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ey0020.9-6 | Advances in Understanding Central Weight Regulation and Behaviour | ESPEYB20

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Y He , B Brouwers , H Liu , K Lawler , EM de Oliveira , DK Lee , Y Yang , AR Cox , JM Keogh , E Henning , R Bounds , A Perdikari , V Ayinampudi , C Wang , M Yu , L Tu , N Zhang , N Yin , J Han , NA Scarcelli , Z Yan , KM Conde , C Potts , JC Bean , M Wang , SM Hartig , L Liao , J Xu , I Barroso , J Mokrosinski , Y Xu , IS Farooqi

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

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ey0019.14-10 | Risk and Outcome | ESPEYB19

14.10. Childhood cardiovascular risk factors and adult cardiovascular events

DR Jr Jacobs , JG Woo , AR Sinaiko , SR Daniels , J Ikonen , M Juonala , N Kartiosuo , T Lehtimaki , CG Magnussen , JSA Viikari , N Zhang , LA Bazzano , TL Burns , RJ Prineas , J Steinberger , EM Urbina , AJ Venn , OT Raitakari , T Dwyer

N Engl J Med. 2022 May 19;386(20):18771888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...

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ey0015.9-1 | Late consequences of tumour therapy: prevention and monitoring | ESPEYB15

9.1 Late outcomes of adult survivors of childhood non-Hodgkin lymphoma: A report from the St. Jude Lifetime Cohort Study

MJ Ehrhardt , JT Sandlund , N Zhang , W Liu , KK Ness , N Bhakta , W Chemaitilly , KR Krull , TM Brinkman , DB Crom , L Kun , SC Kaste , GT Armstrong , DM Green , K Srivastava , LL Robison , MM Hudson , DA Mulrooney

To read the full abstract: Pediatr Blood Cancer. 2017;64(6):e26338Through a comprehensive, risk-based clinical assessment and validation of medical events, this study provides a detailed heath status characterization of adult survivors of paediatric non-Hodgkin lymphoma (NHL). Survivors showed an increased risk of suffering from one or more components of the metabolic syndrome (obesity 35%, hypertens...

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ESPE Yearbook of Paediatric Endocrinology

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

14.10. Childhood cardiovascular risk factors and adult cardiovascular events

9.1 Late outcomes of adult survivors of childhood non-Hodgkin lymphoma: A report from the St. Jude Lifetime Cohort Study

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