ISSN 1662-4009 (online)

ey0016.12-13 | Lipid Metabolism | ESPEYB16

12.13. Marine n-3 fatty acids and prevention of cardiovascular disease and cancer

JE Manson , NR Cook , IM Lee , W Christen , SS Bassuk , S Mora , H Gibson , CM Albert , D Gordon , T Copeland , D D'Agostino , G Friedenberg , C Ridge , V Bubes , EL Giovannucci , WC Willett , JE Buring , VITAL Research Group Buring

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...

ey0016.15-2 | (1) | ESPEYB16

15.2. Vitamin D supplements and prevention of cancer and cardiovascular disease

JE Manson , NR Cook , IM Lee , W Christen , SS Bassuk , S Mora , H Gibson , D Gordon , T Copeland , D D'Agostino , G Friedenberg , C Ridge , V Bubes , EL Giovannucci , WC Willett , JE Buring

To read the full abstract: N Engl J Med 2019;380:33–44This paper describes a large randomized, placebo-controlled trial of vitamin D3 (cholecalciferol) 2000 IU per day in 25,871 US adults. After median follow-up of 5.3 years, supplementation with vitamin D did not alter the risk of the primary end points, invasive cancer of any type hazard ratio, 0.96; 95% confidence interval [CI], ...

ey0016.15-6 | (1) | ESPEYB16

15.6. Late-pregnancy dysglycemia in obese pregnancies after negative testing for gestational diabetes and risk of future childhood overweight: An interim analysis from a longitudinal mother-child cohort study

D Gomes , R von Kries , M Delius , U Mansmann , M Nast , M Stubert , L Langhammer , NA Haas , H Netz , V Obermeier , S Kuhle , LM Holdt , D Teupser , U Hasbargen , AA Roscher , R Ensenauer

To read the full abstract: PLoS Med 2018;15:e1002681.These authors highlight a novel pregnancy risk factor, ‘late-pregnancy dysglycaemia’ in women who are obese but had normal glucose tolerance when they were tested for gestational diabetes mellitus (GDM) earlier in pregnancy. In a prospective cohort study of obese women without GDM (n<...

ey0015.2-11 | FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations | ESPEYB15

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

JL Hwang , SY Park , H Ye , M Sanyoura , AN Pastore , D Carmody , D Del Gaudio , JF Wilson , CL Hanis , X Liu , G Atzmon , B Glaser , LH Philipson , SAW Greeley , Consortium T2D-Genes

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

ey0015.4-10 | New perspectives | ESPEYB15

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

NN Hauer , H Sticht , S Boppudi , C Büttner , C Kraus , U Trautmann , M Zenker , C Zweier , A Wiesener , RA Jamra , D Wieczorek , J Kelkel , AM Jung , S Uebe , AB Ekici , T Rohrer , A Reis , HG Dörr , CT. Thiel

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

ey0015.8-5 | New Mechanisms | ESPEYB15

8.5 Multipotent peripheral glial cells generate neuroendocrine cells of the adrenal medulla

A Furlan , V Dyachuk , ME Kastriti , L Calvo-Enrique , H Abdo , S Hadjab , T Chontorotzea , N Akkuratova , D Usoskin , D Kamenev , J Petersen , K Sunadome , F Memic , U Marklund , K Fried , P Topilko , F Lallemend , PV Kharchenko , P Ernfors , I Adameyko

To read the full abstract: Science. 2017; 357(6346)Current textbooks teach that adrenergic chromaffin cells of the adrenal medulla originate from a sympathoadrenal cell lineage of the neural crest nearby the dorsal aorta. Here, Furlan et al. demonstrate a novel origin of these neuroendocrine cells of the medulla arising predominantly from Schwamm cell precursors (SCP) of peripheral nerves. Prev...

ey0015.8-11 | Clinical Trials – New Treatments | ESPEYB15

8.11 Effect of once-daily, modified-release hydrocortisone versus standard glucocorticoid therapy on metabolism and innate immunity in patients with adrenal insufficiency (DREAM): a single-blind, randomised controlled trial

AM Isidori , MA Venneri , C Graziadio , C Simeoli , D Fiore , V Hasenmajer , E Sbardella , D Gianfrilli , C Pozza , P Pasqualetti , S Morrone , A Santoni , F Naro , A Colao , R Pivonello , A. Lenzi

To read the full abstract: Lancet Diabetes Endocrinol. 2018; 6(3): 173-185Adrenal insufficiency (AI), caused by adrenal failure (primary) or hypothalamo-pituitary failure (secondary), has a prevalence of 250–450 per 1 million (16). AI is potentially life-threatening and requires lifelong glucocorticoid replacement therapy. Modified-release hydrocortisone preparations have bee...

ey0015.8-13 | New Genes | ESPEYB15

8.13 Activating PRKACB somatic mutation in cortisol-producing adenomas

S Espiard , MJ Knape , K Bathon , G Assié , M Rizk-Rabin , S Faillot , W Luscap-Rondof , D Abid , L Guignat , D Calebiro , FW Herberg , CA Stratakis , J Bertherat

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...

ey0015.9-11 | Biologic agents in chronic inflammatory diseases: lights and shadows | ESPEYB15

9.11 Perianal pediatric Crohn disease is associated with a distinct phenotype and greater inflammatory burden

A Assa , M Amitai , ML Greer , DA Castro , RC Kuint , M Martínez-León , I Herman-Sucharska , E Coppenrath , S Anupindi , A Towbin , D Moote , O Konen , LT Pratt , A Griffiths , D Turner , ImageKids Study Group

To read the full abstract: J Pediatr Gastroenterol Nutr. 2017;65:293-298Growth deceleration and impaired pubertal growth spurt are common concerns in patients with early onset inflammatory bowel disease (IBD) (1-2). Previous studies confirmed the efficacy and safety of infliximab, an anti-tumor necrosis factor alpha (TNF-α) antibody, in achieving clinical remission in luminal Crohn&#8...

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...