ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

5. Bone, Growth Plate and Mineral Metabolism

Advances in clinical practice

ey0019.5-4 | Advances in clinical practice | ESPEYB19

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

A Sastre , K Valentino , FM Hannan , KE Lines , AK Gluck , M Stevenson , M Ryalls , RJ Gorrigan , D Pullen , J Buck , S Sankaranarayanan , J Allgrove , RV Thakker , EF Gevers

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

ey0019.5-5 | Advances in clinical practice | ESPEYB19

5.5. Long bone fractures in fibrous dysplasia/McCune-Albright syndrome: prevalence, natural history, and risk factors

RES Geels , ME Meier , A Saikali , R Tsonaka , NM Appelman-Dijkstra , AM Boyce

J Bone Miner Res. 2022 Feb;37(2):236-243.Abstract: Brief: This study characterized a large cohort of patients with fibrous dysplasia/McCune Albright syndrome in order to assess the fracture prevalence and identify risk factors for future factures.Commentary: Fibrous dysplasia/McCune-Albright s...

ey0019.5-6 | Advances in clinical practice | ESPEYB19

5.6. Vitamin D level and fractures in children and adolescents: a systematic review and meta-analysis

C Zheng , H Li , S Rong , L Liu , K Zhen , K Li

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...

ey0019.5-8 | Advances in clinical practice | ESPEYB19

5.8. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

JE Hoover-Fong , KJ Schulze , AY Alade , MB Bober , E Gough , SS Hashmi , JT Hecht , JM Legare , ME Little , P Modaff , RM Pauli , DF Rodriguez-Buritica , ME Serna , C Smid , C Liu , J McGready

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...