ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Previous issue | Volume 18 | ESPEYB18 | Next issue

Yearbook of Paediatric Endocrinology 2021

5. Bone, Growth Plate and Mineral Metabolism

Advances in clinical practice

Previous section
Novel treatments for rare skeletal disorders
Table of contents
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Translational highlights

ey0018.5-3 | Advances in clinical practice | ESPEYB18

5.3. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

Cebeci Ayşe Nurcan , Zou Minjing , BinEssa Huda A , Alzahrani Ali S , l-Rijjal Roua A , Al-Enezi Anwar F , Al-Mohanna Futwan A , Cavalier Etienne , Meyer Brian F , Shi Yufei

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.979–96 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...
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ey0018.5-4 | Advances in clinical practice | ESPEYB18

5.4. Children are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy

de Jong Mechteld , Nounou Hassan , Garcia Virginia Rozalen , Christakis Ioannis , Brain Caroline , Abdel-Aziz Tarek E , Hewitt Richard J , Kurzawinski Tom R

J Pediatr Surg. 2020 Jul;55(7):1260–1264 Abstract: https://pubmed.ncbi.nlm.nih.gov/31383578/In brief: Hypoparathyroidism is a common complication after total thyroidectomy and has been reported to occur in 30% to 60% of adult patients. The current study of 106 pediatric patients undergoing total thyroidectomy between 1998–2018 reports that hypoparathyroidism was common, w...
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ey0018.5-5 | Advances in clinical practice | ESPEYB18

5.5. Growth curves for children with X-linked hypophosphatemia

Mao Meng , Carpenter Thomas O , Whyte Michael P , Skrinar Alison , Chen Chao-Yin , Martin Javier San , Rogol Alan D

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...
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ey0018.5-6 | Advances in clinical practice | ESPEYB18

5.6. Vitamin D supplements for prevention of tuberculosis infection and disease

Ganmaa Davaasambuu , Uyanga Buyanjargal , Zhou Xin , Gantsetseg Garmaa , Delgerekh Baigali , Enkhmaa Davaasambuu , Khulan Dorjnamjil , Ariunzaya Saranjav , Sumiya Erdenebaatar , Bolortuya Batbileg , Yanjmaa Jutmaan , Enkhtsetseg Tserenkhuu , Munkhzaya Ankhbat , Tunsag Murneren , Khudyakov Polyna , Seddon James A , Marais Ben J , Batbayar Ochirbat , Erdenetuya Ganbaatar , Amarsaikhan Bazarsaikhan , Spiegelman Donna , Tsolmo Jadambaa , Martineau Adrian R

N Engl J Med 2020; 383:359–368 DOI: 10.1056/NEJMoa1915176 Abstract: https://pubmed.ncbi.nlm.nih.gov/32706534/In brief: Vitamin D metabolites support innate immune responses to Mycobacterium tuberculosis. In this phase 3, randomized, controlled trial of vitamin D supplementation to prevent tuberculosis infection, there was no reduction of risk of tuberculosis infection, tubercu...
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ey0018.5-7 | Advances in clinical practice | ESPEYB18

5.7. Effect of vitamin D3 supplementation on severe asthma exacerbations in children with asthma and low vitamin D levels: the VDKA randomized clinical trial

Forno Erick , Bacharier Leonard B , Phipatanakul Wanda , Guilbert Theresa W , Cabana Michael D , Ross Kristie , Covar Ronina , Gern James E , Rosser Franziska J , Blatter Joshua , Durrani Sandy , Han Yueh-Ying , Wisniewski Stephen R , Celedon Juan C

JAMA. 2020 Aug 25;324(8):752–760. doi: 10.1001/jama.2020.12384. Abstract: https://pubmed.ncbi.nlm.nih.gov/32840597/In brief: Several observational studies have linked low serum 25(OH)D levels to severe asthma exacerbations, lower lung function, and reduced response to corticosteroids. In this randomized controlled trial...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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