ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 23 of about 261 results

ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....
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ey0017.11-9 | Body Weight Regulation and Insulin Sensitivity | ESPEYB17

11.9. Chronic mirabegron treatment increases human brown fat, HDL cholesterol, and insulin sensitivity

AE O’Mara , JW Johnson , JD Linderman , RJ Brychta , S McGehee , LA Fletcher , YA Fink , D Kapuria , TM Cassimatis , N Kelsey , C Cero , ZA Sater , F Piccinini , AS Baskin , BP Leitner , H Cai , CM Millo , W Dieckmann , M Walter , NB Javitt , Y Rotman , PJ Walter , M Ader , RN Bergman , P Herscovitch , KY Chen , AM Cypess

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...
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ey0017.14-12 | (1) | ESPEYB17

14.12. Brain-Sparing sympathofacilitators mitigate obesity without adverse cardiovascular effects

I Mahu , A Barateiro , E Rial-Pensado , N Martinez-Sanchez , SH Vaz , PMSD Cal , B Jenkins , T Rodrigues , C Cordeiro , MF Costa , R Mendes , E Seixas , MMA Pereira , N Kubasova , V Gres , I Morris , C Temporao , M Olivares , Y Sanz , A Koulman , F Corzana , AM Sebastiao , M Lopez , GJL Bernardes , AI Domingos

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...
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ey0016.2-7 | Neonatal Diabetes Mellitus | ESPEYB16

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco , RA Watson , WJ Weninger , CC Wong , SE Flanagan , R Caswell , A Green , C Tudor , CJ Lelliott , SH Geyer , B Maurer-Gesek , LF Reissig , H Lango Allen , A Caliebe , R Siebert , PM Holterhus , A Deeb , F Prin , R Hilbrands , H Heimberg , S Ellard , AT Hattersley , I Barroso

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985–989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...
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ey0016.2-8 | Neonatal Diabetes Mellitus | ESPEYB16

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

P Bowman , AE Sulen , F Barbetti , J Beltrand , P Svalastoga , E Codner , EH Tessmann , PB Juliusson , T Skrivarhaug , ER Pearson , SE Flanagan , T Babiker , NJ Thomas , MH Shepherd , S Ellard , I Klimes , M Szopa , M Polak , D Iafusco , AT Hattersley , PR Njolstad , Neonatal Diabetes International Collaborative Group. Collaborators (113)

To read the full abstract: Lancet Diabetes Endocrinol. 2018 Aug;6(8)This study describes a 10-year follow-up of a large international multicenter cohort of patients with KCNJ11 permanent neonatal diabetes. It addresses key questions relating to long-term efficacy and safety of sulfonylureas in these patients.The discovery that mutations in the KCNJ11</...
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ey0016.4-6 | Clinical Trials | ESPEYB16

4.6. rhIGF-1/rhIGFBP-3 in preterm Infants: A phase 2 randomized controlled trial

D Ley , B Hallberg , I Hansen-Pupp , C Dani , LA Ramenghi , N Marlow , K Beardsall , F Bhatti , D Dunger , JD Higginson , A Mahaveer , OJ Mezu-Ndubuisi , P Reynolds , C Giannantonio , M van Weissenbruch , N Barton , A Tocoian , M Hamdani , E Jochim , A Mangili , JK Chung , MA Turner , LEH Smith , A Hellstrom

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...
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ey0016.5-8 | Clinical Advances in Treatment | ESPEYB16

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel , FH Glorieux , MP Whyte , CF Munns , LM Ward , O Nilsson , JH Simmons , R Padidela , N Namba , HI Cheong , P Pitukcheewanont , E Sochett , W Hogler , K Muroya , H Tanaka , GS Gottesman , A Biggin , F Perwad , M Mao , CY Chen , A Skrinar , J San Martin , AA Portale

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...
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ey0016.8-9 | Clinical Trials - New Treatments | ESPEYB16

8.9. A Randomized Trial of Epinephrine in Out-of-Hospital Cardiac Arrest

GD Perkins , C Ji , CD Deakin , T Quinn , JP Nolan , C Scomparin , S Regan , J Long , A Slowther , H Pocock , JJM Black , F Moore , RT Fothergill , N Rees , L O'Shea , M Docherty , I Gunson , K Han , K Charlton , J Finn , S Petrou , N Stallard , S Gates , R Lall , Collaborators PARAMEDIC2

To read the full abstract: N Engl J Med. 2018; 379(8): 711–721.In attempting to reduce the rate of death and disability associated with cardiac arrest worldwide, emergency medical workers have few effective treatments other than early initiation of cardiopulmonary resuscitation (CPR) and prompt defibrillation. Epinephrine (adrenaline) has potentially beneficial effects in cardiac ar...
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ey0016.10-20 | (1) | ESPEYB16

10.20. Reduced burden of diabetes and improved quality of life: Experiences from unrestricted day-and-night hybrid closed-loop use in very young children with type 1 diabetes

G Musolino , K Dovc , CK Boughton , M Tauschmann , JM Allen , Nagl , M Fritsch , J Yong , E Metcalfe , D Schaeffer , M Fichelle , U Schierloh , AG Thiele , D Abt , H Kojzar , JK Mader , S Slegtenhorst , N Ashcroft , ME Wilinska , J Sibayan , N Cohen , C Kollman , SE Hofer , E Frohlich-Reiterer , TM Kapellen , CL Acerini , C de Beaufort , F Campbell , B Rami-Merhar , R Hovorka , Kidsap Consortium

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...
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ey0016.14-16 | (1) | ESPEYB16

14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink , DN Magnusdottir , OT Magnusson , NJ Walker , TJ Morris , A Sigurdsson , GH Halldorsson , SA Gudjonsson , P Melsted , H Ingimundardottir , S Kristmundsdottir , KF Alexandersson , A Helgadottir , J Gudmundsson , T Rafnar , I Jonsdottir , H Holm , GI Eyjolfsson , O Sigurdardottir , I Olafsson , G Masson , DF Gudbjartsson , U Thorsteinsdottir , BV Halldorsson , SN Stacey , K Stefansson

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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