ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 8 of about 1810 results

ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...
0 shares

ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...
0 shares

ey0018.4-13 | New Paradigms | ESPEYB18

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

A Dauber , Y Meng , L Audi , S Vedantam , B Weaver , A Carrascosa , K Albertsson-Wikland , M Ranke , A Jorge , J Cara , MP Wajnrajch , A Lindberg , C Camacho-Hübner , JN Hirschhorn

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...
0 shares

ey0018.4-14 | New Paradigms | ESPEYB18

4.14. Familial short stature-A novel phenotype of growth plate collagenopathies

Plachy Lukas , Dusatkova Petra , Maratova Klara , Petruzelkova Lenka , Elblova Lenka , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Zemkova Dana , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

J Clin Endocrinol Metab. 2021;106:1742–1749. doi: 10.1210/clinem/dgab084. PMID: 33570564This study aimed to assess the frequency of genetic collagenopathies in children with familial short stature (FSS), describing the phenotype and reporting the response to rhGH treatment after 1 and 3 years and at adult height.Collagen types II, IX, X, and XI are synthesized by...
0 shares

ey0018.5 | Marta Baroncelli, Adalbert Raimann, Raja Padidela, Ola Nilsson | ESPEYB18

5. Bone, Growth Plate and Mineral Metabolism

Baroncelli Marta , Raimann Adalbert , Padidela Raja , Nilsson Ola

PrefaceThe skeletal research field continues to develop rapidly and has produced several seminal findings in the last year including advances in the treatment of rare skeletal disorders, and an even deeper understanding into the molecular mechanisms that control skeletal development, endochondral bone formation, mineralization of skeletal tissues and skeletal biology. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly a...
0 shares

ey0018.5-1 | Novel treatments for rare skeletal disorders | ESPEYB18

5.1. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

R Savarirayan , L Tofts , M Irving , W Wilcox , CA Bacino , J Hoover-Fong , R Ullot Font , P Harmatz , F Rutsch , MB Bober , LE Polgreen , I Ginebreda , K Mohnike , J Charrow , D Hoernschemeyer , K Ozono , Y Alanay , P Arundel , S Kagami , N Yasui , KK White , HM Saal , A Leiva-Gea , F Luna-Gonzalez , H Mochizuki , D Basel , DM Porco , K Jayaram , E Fisheleva , A Huntsman-Labed , J Day

Lancet. 2020 Sep 5;396(10252):684–692. Abstract: https://pubmed.ncbi.nlm.nih.gov/32891212/In brief: Activating mutations in FGFR3 inhibit endochondral ossification in achondroplasia resulting in disproportionate extreme short stature. In this randomised, double-blind, phase 3, placebo-controlled trial, once-daily subcutaneous treatment with vosoritide, a C-type natriuretic pep...
1 shares

ey0018.5-2 | Novel treatments for rare skeletal disorders | ESPEYB18

5.2. Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia

Ozaki Tomonori , Kawamoto Tatsuya , Iimori Yuki , Takeshita Nobuaki , Yamagishi Yukiko , Nakamura Hiroaki , Kamohara Masazumi , Fujita Kaori , Tanahashi Masayuki , Tsumaki Noriyuki

Sci Rep. 2020 Dec 1;10(1):20915 Abstract: https://pubmed.ncbi.nlm.nih.gov/33262386/In brief: Inhibition of excessive FGFR3 signalling constitutes the key mechanism of pharmacological treatments in achondroplasia. In this pharmacokinetic and pharmacodynamic animal study, the FGFR inhibitor ASP5878 with potential oral application mode revealed beneficial effects on skeletal growth in...
0 shares

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 ...
0 shares

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...
0 shares

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...
0 shares

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more