ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Bone Miner Res. 2019 Dec;34(12):2198–2204.In brief: In Osteogenesis imperfecta (OI), intravenous (IV) cyclical bisphosphonates are often discontinued after cessation of growth in adolescents. This study showed that, four years after discontinuation of treatment, none of the patients sustained new vertebral compression fractures, and the proportion ...

In brief: The IMPACT Survey collected a comprehensive dataset (including demographics, clinical characteristics and clinical signs, symptoms and events and their impact) on the experience of individuals with osteogenesis imperfecta (OI) (n=2312 individuals across self- and proxy reports), and their caregivers (n=560). Individuals with OI reported numerous and evolving symptoms that affect their quality of life, notably pain and fatigue, which are consistently present.<p cl...

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

Brief Summary: This prospective natural history study examined the timing and positive indicators for reshaping of vertebral fractures (VF) in glucocorticoid (GC)-treated patients with chronic diseases. Complete VF reshaping occurred in 82.3% of patients, with similar frequencies in all diagnosis groups (leukemia, rheumatic disorders and nephrotic syndrome) in a median time of 1.3 years. Likelihood of VF reshaping was positively related to higher lumbar spine bone mineral dens...