ISSN 1662-4009 (online)

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...

ey0017.11-14 | New Insight into Bariatric Surgery | ESPEYB17

11.14. Five-year outcomes of gastric bypass in adolescents as compared with adults

TH Inge , AP Courcoulas , TM Jenkins , MP Michalsky , ML Brandt , SA Xanthakos , JB Dixon , CM Harmon , MK Chen , C Xie , ME Evans , MA Helmrath

To read the full abstract: The New England journal of medicine. 2019;380(22):2136–45.Here, Inge et al. explored whether the outcomes of Roux-en-Y gastric bypass (RYGB) differ according to the age of the patient at the time of surgery. They analysed retrospective data on the 5-year outcomes of RYGB in 161 adolescents from the Teen-LABS-study (1) and in 396 adults with a history...

ey0016.11-13 | Treatment of Severe Obesity: Next Steps | ESPEYB16

11.13. Five-year outcomes of gastric bypass in adolescents as compared with adults

TH Inge , AP Courcoulas , TM Jenkins , MP Michalsky , ML Brandt , SA Xanthakos , JB Dixon , CM Harmon , MK Chen , C Xie , ME Evans , MA Helmrath , Teen-LABS Consortium

To read the full abstract: N Engl J Med. 2019;380(22):2136–2145These authors describe the 5-year follow-up of a multicenter patient cohort of adolescents with severe obesity who underwent gastric bypass surgery to lose weight and improve cardiometabolic risk factors (the Teen-LABS study; n=161, age 13–19 years at time of surgery). They compared these data with a simila...

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...

ey0019.1-5 | Genetics | ESPEYB19

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...

ey0020.2-8 | Long-Acting Growth Hormone (LAGH) | ESPEYB20

2.8. Efficacy and safety of weekly somatrogon vs daily somatropin in children with growth hormone deficiency: A phase 3 study

CL Deal , J Steelman , E Vlachopapadopoulou , R Stawerska , LA Silverman , M Phillip , HS Kim , C Ko , O Malievskiy , JF Cara , CL Roland , CT Taylor , SR Valluri , MP Wajnrajch , A Pastrak , BS Miller

Brief summary: This 12-months randomized, controlled, phase 3 study compared the efficacy and safety of once-weekly Somatrogon 0.66 mg/kg/week with once-daily somatropin in prepubertal children with GHD. The efficacy of once-weekly Somatrogon was noninferior to once-daily somatropin, with similar safety and tolerability profiles.Somatrogon (MOD-4023) is a long-acting rhGH recently approved by the European Medicines Agency for the treatment of children wi...

ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

ey0015.12-13 | New treatments | ESPEYB15

12.13 Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children with Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)

M Braamskamp , G Langslet , BW McCrindle , D Cassiman , GA Francis , C Gagne , D Gaudet , KM Morrison , A Wiegman , T Turner , E Miller , DM Kusters , JS Raichlen , PD Martin , EA Stein , JJP Kastelein , BA Hutten

To read the full abstract: Circulation 2017;136:359-366The National Heart, Lung and Blood Institute Panel on integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents recommended a universal screening approach that would include one-time testing of all children aged 9-11 years for dyslipidemia. This recommendation has raised controversy regarding t...

ey0015.15-3 | Interventions for overweight and obesity do work | ESPEYB15

15.3 Diet, physical activity and behavioural interventions for the treatment of overweight or obese children from the age of 6 to 11 years

E Mead , T Brown , K Rees , LB Azevedo , V Whittaker , D Jones , J Olajide , GM Mainardi , E Corpeleijn , C O'Malley , E Beardsmore , L Al-Khudairy , L Baur , MI Metzendorf , A Demaio , LJ Ells

To read the full abstract: Cochrane Database Syst Rev 2017;6:CD012651Here, the authors report an update of a Cochrane review, which was first published in 2003, and last updated in 2009. However, given the complexity of the evidence, the current update is now split into 6 reviews addressing diff...