ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 8 results

ey0016.5-3 | New Therapies and Novel Therapeutic Strategies | ESPEYB16

5.3. ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy

T Khan , KW Sinkevicius , S Vong , A Avakian , MC Leavitt , H Malanson , A Marozsan , KL Askew

Abstract: Dis Model Mech. 2018 Oct 1; 11(10): dmm035691.In brief: Generalized arterial calcification of infancy (GACI) is a severe, rare disease characterized by excessive calcification of large and medium sized arteries caused by homozygous loss-of-function mutations in ENPP1. Here, in Enpp1 deficient mice, treatment with recombinant hu...
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ey0021.5-1 | Advances in Clinical Practice | ESPEYB21

5.1. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

Khan Aliya A. , Luisa Brandi Maria , Rush Eric T. , Ali Dalal S. , Al-Alwani Hatim , Almonaei Khulod , et al Farah Alsarraf

In brief: This systematic review, conducted by an international group of experts, provides an overview of the phenotype of patients with hypophosphatasia and proposes updated diagnostic criteria for this disease in children and adults.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase (ALPL) gene, which encodes the tissue nonspecific alkaline phosphatase (TNSALP) enzyme. Low alka...
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ey0018.3-5 | Drug induced thyroid disease | ESPEYB18

3.5. Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade

Z Khan , C Hammer , J Carroll , F Di Nucci , SL Acosta , V Maiya , T Bhangale , J Hunkapiller , I Mellman , ML Albert , MI McCarthy , GS Chandler

Nat Commun. 2021 Jun 7;12(1):3355. doi: 10.1038/s41467-021-23661-4.This study describes the interaction of individual genetic variation for autoimmune thyroid disease with risk of thyroid immune related adverse events (irAE) during or after immune checkpoint inhibitor (ICI) treatment for advanced cancer.ICIs are monoclonal antibodies blocking T-cell exhaustion and...
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ey0016.5-17 | Basic Science - Bone | ESPEYB16

5.17. Coupling of bone resorption and formation by RANKL reverse signalling

Y Ikebuchi , S Aoki , M Honma , M Hayashi , Y Sugamori , M Khan , Y Kariya , G Kato , Y Tabata , JM Penninger , N Udagawa , K Aoki , H Suzuki

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...
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ey0021.15-6 | New Concerns | ESPEYB21

15.6. Consumption of 100% fruit juice and body weight in children and adults: a systematic review and meta-analysis

M Nguyen , SE Jarvis , L Chiavaroli , SB Mejia , A Zurbau , TA Khan , DK Tobias , WC Willett , FB Hu , AJ Hanley , CS Birken , JL Sievenpiper , VS. Malik

In Brief This systematic review collated evidence from prospective cohort studies (PCS) with at least 6 months follow-up and randomized clinical trials (RCTs) to assess the influence of 100% fruit juice on body weight in children and adults. 100% fruit juice intake was associated with higher BMI gain among children and with higher weight gain in adults.In children, 17 PCS (total 45,851 children) and no RCTs were identified. Each additional serving per da...
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ey0016.14-7 | (1) | ESPEYB16

14.7. A large impact crater beneath Hiawatha Glacier in northwest Greenland

Kjaer Kurt H. , Larsen Nicolaj K. , Binder Tobias , Bjork Anders A. , Eisen Olaf , Fahnestock Mark A. , Funder Svend , Garde Adam A. , Haack Henning , Helm Veit , Houmark-Nielsen Michael , Kjeldsen Kristian K. , Khan Shfaqat A. , Machguth Horst , McDonald Iain , Morlighem Mathieu , Mouginot Jeremie , Paden John D. , Waight Tod E. , Weikusat Christian , Willerslev Eske , MacGregor Joseph A.

To read the full abstract: Sci Adv. 2018 Nov 14;4(11):eaar8173The discovery of a 31-kilometer-wide impact crater in northwest Greenland, beneath up to a kilometer of ice, implies an instantly vaporizing rock that sent shock waves across the Arctic. Its impact must have had a powerful effect on global climate; a thousand-year global cooling event.You may be...
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ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

See comment on 11.7...
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ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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