ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 10 of about 197 results

ey0016.14-13 | (1) | ESPEYB16

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

To read the full abstract: N Engl J Med 2018;379:2131–2139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...
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ey0020.9-2 | New Findings in Adipose Tissue | ESPEYB20

9.2. A single-cell atlas of human and mouse white adipose tissue

M Emont , C Jacobs , AL Essene , D Pant , D Tenen , G Colleluori , A Di Vincenzo , AM Jorgensen , H Dashti , A Stefek , E McGonagle , S Strobel , S Laber , S Agrawal , GP Westcott , A Kar , ML Veregge , A Gulko , H Srinivasan , Z Kramer , E De Felippis , E Merkel , J Ducie , CG Boyd , W Gourash , A Courcoulas , SJ Lin , BT Lee , D Morris , A Tobias , AV Khera , M Claussnitzer , TH Pers , A Giodano , O Askenberg , A Regev , LT Tsai , ED Rosen

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...
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ey0019.9-1 | Cancer treatment and growth hormone therapy: a consensus | ESPEYB19

9.1. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement

MCS Boguszewski , CL Boguszewski , W Chemaitilly , LE Cohen , J Gebauer , C Higham , AR Hoffman , M Polak , KCJ Yuen , N Alos , Z Antal , M Bidlingmaier , BMK Biller , G Brabant , CSY Choong , S Cianfarani , PE Clayton , R Coutant , AA Cardoso-Demartini , A Fernandez , A Grimberg , K Guðmundsson , J Guevara-Aguirre , KKY Ho , R Horikawa , AM Isidori , JOL Jorgensen , P Kamenicky , N Karavitaki , JJ Kopchick , M Lodish , X Luo , AI McCormack , L Meacham , S Melmed , Moab S Mostoufi , HL Muller , SJCMM Neggers , Oliveira MH Aguiar , K Ozono , PA Pennisi , V Popovic , S Radovick , L Savendahl , P Touraine , HM van Santen , G Johannsson

n.karavitaki@bham.ac.uk Eur J Endocrinol. 2022; 186: P35-P52. PMID: 35319491.Brief Summary: An international panel of experts produced this consensus statement after critical review of the existing evidence on the safety of GH replacement in cancer and intracranial tumour survivors and in patients with increased cancer risk. Current evidence does not support an association betwe...
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ey0020.7-14 | Long-Term Surveillance for Endocrine Complications in Childhood Cancer Survivors | ESPEYB20

7.14. Hypothalamic-pituitary and other endocrine surveillance among childhood cancer survivors

L van Iersel , RL Mulder , C Denzer , LE Cohen , HA Spoudeas , LR Meacham , E Sugden , AYN Schouten-van Meeteren , EW Hoving , RJ Packer , GT Armstrong , S Mostoufi-Moab , AM Stades , D van Vuurden , GO Janssens , C Thomas-Teinturier , RD Murray , N Di Iorgi , SJCMM Neggers , J Thompson , AA Toogood , H Gleeson , C Follin , E Bardi , L Torno , B Patterson , V Morsellino , G Sommer , SC Clement , D Srivastava , CE Kiserud , A Fernandez , K Scheinemann , S Raman , KCJ Yuen , WH Wallace , LS Constine , R Skinner , MM Hudson , LCM Kremer , W Chemaitilly , HM van Santen

Brief summary: In this extensive and updated review, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) report expert consensus-based guidelines that harmonize recommendations for surveillance of endocrine disorders in childhood cancer survivors.This interdisciplinary panel of 42 international experts formulated new surveillance recommendations for hypothalamic–pituitary (HP) dysfunction. Existing IGHG surveillan...
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ey0020.13-1 | Section | ESPEYB20

13.1. Taurine deficiency as a driver of aging

P Singh , K Gollapalli , S Mangiola , D Schranner , MA Yusuf , M Chamoli , SL Shi , B Lopes Bastos , T Nair , A Riermeier , EM Vayndorf , JZ Wu , A Nilakhe , CQ Nguyen , M Muir , MG Kiflezghi , A Foulger , A Junker , J Devine , K Sharan , SJ Chinta , S Rajput , A Rane , P Baumert , M Schonfelder , F Iavarone , G di Lorenzo , S Kumari , A Gupta , R Sarkar , C Khyriem , AS Chawla , A Sharma , N Sarper , N Chattopadhyay , BK Biswal , C Settembre , P Nagarajan , KL Targoff , M Picard , S Gupta , V Velagapudi , AT Papenfuss , A Kaya , MG Ferreira , BK Kennedy , JK Andersen , GJ Lithgow , AM Ali , A Mukhopadhyay , A Palotie , G Kastenmuller , M Kaeberlein , H Wackerhage , B Pal , VK Yadav

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...
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ey0016.15-5 | (1) | ESPEYB16

15.5. Maternal body mass index, gestational weight gain, and the risk of overweight and obesity across childhood: An individual participant data meta-analysis

E Voerman , S Santos , B Patro Golab , P Amiano , F Ballester , H Barros , A Bergstrom , MA Charles , L Chatzi , C Chevrier , GP Chrousos , E Corpeleijn , N Costet , S Crozier , G Devereux , M Eggesbo , S Ekstrom , MP Fantini , S Farchi , F Forastiere , V Georgiu , KM Godfrey , D Gori , V Grote , W Hanke , I Hertz-Picciotto , B Heude , D Hryhorczuk , RC Huang , H Inskip , N Iszatt , AM Karvonen , LC Kenny , B Koletzko , LK Kupers , H Lagstrom , I Lehmann , P Magnus , R Majewska , J Makela , Y Manios , FM McAuliffe , SW McDonald , J Mehegan , M Mommers , CS Morgen , TA Mori , G Moschonis , D Murray , CN Chaoimh , EA Nohr , AM Nybo Andersen , E Oken , A Oostvogels , A Pac , E Papadopoulou , J Pekkanen , C Pizzi , K Polanska , D Porta , L Richiardi , SL Rifas-Shiman , L Ronfani , AC Santos , M Standl , C Stoltenberg , E Thiering , C Thijs , M Torrent , SC Tough , T Trnovec , S Turner , L van Rossem , A von Berg , M Vrijheid , TGM Vrijkotte , J West , A Wijga , J Wright , O Zvinchuk , TIA Sorensen , DA Lawlor , R Gaillard , VWV Jaddoe

To read the full abstract: PLoS Med, 2019;16:e1002744These investigators painstakingly collated individual-level data from 37 pregnancy and birth cohort studies from Europe, North America, and Australia, comprising 162,129 mothers and their children, in order to identify the optimal levels gestational weight gain in relation to risk of offspring obes...
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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...
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ey0015.11-18 | Prebiotics reduce fat mass | ESPEYB15

11.18 Prebiotics Reduce Body Fat and Alter Intestinal Microbiota in Children Who Are Overweight or With Obesity

AC Nicolucci , MP Hume , I Martínez , S Mayengbam , J Walter , RA Reimer

To read the full abstract: Gastroenterology. 2017 Sep;153(3):711-722In adults, prebiotic intake is associated with improvements in satiety, postprandial glucose and insulin concentrations (1). The effect of prebiotic intervention in overweight/obese children has been rarely studied. This clinical trial showed that supplementation with oligofructose-enriched inulin for 16 weeks decreased BM...
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ey0016.9-15 | Biologic Agents and Growth in Chronic Inflammatory Diseases | ESPEYB16

9.15. Growth during Tocilizumab therapy for Polyarticular-course juvenile idiopathic arthritis: 2-year data from a phase III clinical trial

KN Bharucha , HI Brunner , I Calvo Penades , I Nikishina , N Rubio-Perez , S Oliveira , K Kobusinska , H Schmeling , F Sztajnbok , F Weller-Heinemann , E Zholobova , F Zulian , R Allen , J Chaitow , J Frane , C Wells , N Ruperto , F De Benedetti

To read the full abstract: J Rheumatol. 2018; 45(8): 1173In recent years, biologic agents have clearly been shown to be effective in maintaining remission and improving linear growth in children with inflammatory bowel disease and other chronic inflammatory diseases (1–3). This prospective cohort study analyzed growth in 187 patients (143 females, mean age 11±4 years; including...
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ey0015.2-10 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.10 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

S Moortgat , J Désir , V Benoit , S Boulanger , H Pendeville , MC Nassogne , D Lederer , I Maystadt

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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