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ey0021.13-15 | Identifying Health Disparities and Improving Access to Healthcare | ESPEYB21

13.15. The I-CAH registry: a platform for international collaboration for improving knowledge and clinical care in congenital adrenal hyperplasia

X Tseretopoulou , J Bryce , M Chen , M McMillan , AK Lucas-Herald , SR Ali , SF Ahmed

Brief Summary: The authors describe the development and utility of an international collaborative database in congenital adrenal hyperplasia (CAH). I-CAH serves as a tool for benchmarking clinical care and supporting research and development of novel therapies.Rare disease registries can form the basis of best practice guidelines and allow for monitoring of new drugs and therapeutic interventions. The I-CAH Registry was developed as an international plat...

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ey0016.9-2 | Metabolic and Cardiovascular Risk in Cancer Survivors | ESPEYB16

9.2. The late effects of radiation therapy on skeletal muscle morphology and progenitor cell content are influenced by diet-induced obesity and exercise training in male mice

D D'Souza , S Roubos , J Larkin , J Lloyd , R Emmons , H Chen , M De Lisio

To read the full abstract: Sci Rep. 2019 Apr 30; 9(1): 6691.In recent years, improved knowledge of the metabolic risks in childhood cancer survivors (CCS) has increasingly focused research on modifiable factors and preventive strategies (12). It is well known that therapeutic irradiation can cause detrimental changes in body composition, but it is still unknown whether the specific...

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ey0019.12-10 | Metabolic syndrome | ESPEYB19

12.10. Atlas of exercise metabolism reveals time-dependent signatures of metabolic homeostasis

P. Sato S, Dyar KA, Treebak JT, Jepsen SL, Ehrlich AM, Ashcroft SP, Trost K, Kunzke T, Prade VM, Small L, Basse AL, Schonke M, Chen S, Samad M, Baldi P, Barres R, Walch A, Moritz T, Holst JJ, Lutter D, Zierath JR, Sassone-Corsi

Cell metabolism 2022;34(2):329-45.e8. doi: 10.1016/j.cmet.2021.12.016Brief Summary: In a mouse model, time of exercise during the day was found to determine the magnitude and type of metabolic response. Different tissues responded to exercise at different times of the day.Comment: Exercise is considered a vital intervention in the prevention and treatment of individu...

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ey0015.12-4 | New Mechanism | ESPEYB15

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

V Rusu , E Hoch , JM Mercader , DE Tenen , M Gymrek , CR Hartigan , M DeRan , M von Grotthuss , P Fontanillas , A Spooner , G Guzman , AA Deik , KA Pierce , C Dennis , CB Clish , SA Carr , BK Wagner , M Schenone , MCY Ng , BH Chen , M Consortium , STD Consortium , F Centeno-Cruz , C Zerrweck , L Orozco , DM Altshuler , SL Schreiber , JC Florez , SBR Jacobs , ES Lander

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

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ey0015.15-8 | New mechanisms: food aversion | ESPEYB15

15.8 Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15

JY Hsu , S Crawley , M Chen , DA Ayupova , DA Lindhout , J Higbee , A Kutach , W Joo , Z Gao , D Fu , C To , K Mondal , B Li , A Kekatpure , M Wang , T Laird , G Horner , J Chan , M McEntee , M Lopez , D Lakshminarasimhan , A White , SP Wang , J Yao , J Yie , H Matern , M Solloway , R Haldankar , T Parsons , J Tang , WD Shen , Y Alice Chen , H Tian , BB Allan

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...

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ESPE Yearbook of Paediatric Endocrinology

13.15. The I-CAH registry: a platform for international collaboration for improving knowledge and clinical care in congenital adrenal hyperplasia

9.2. The late effects of radiation therapy on skeletal muscle morphology and progenitor cell content are influenced by diet-induced obesity and exercise training in male mice

12.10. Atlas of exercise metabolism reveals time-dependent signatures of metabolic homeostasis

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

15.8 Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15

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