Bone Abstracts

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score –3.2) and femoral neck (T-score –2.4), was referred ...

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...

Objectives: Impairment of bone mass accrual and alterations of bone metabolism is a common finding in HIV-infected youths. In particular, previous studies demonstrated higher bone formation and bone resorption rates in HIV-infected children and adolescents. Wnt ligands promote bone formation by stimulating osteoblast differentiation and their survival. Recent studies demonstrated that sclerostin (Scl) and dickkopf factor 1 (DKK-1), Wnt antagonists, are important negative regul...

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...

Background and aims: Bone turnover markers (BTMs) are used in clinical practice for assessing patients with osteoporosis and their treatment. In Spain it is necessary to fine-tune the reference intervals, since they were established years ago in a low number of individuals. The aims of this study were to establish robust reference intervals for BTMs in healthy young premenopausal Spanish women and to investigate the factors influencing BTMs.Methods: 185 ...

Objectives: To determine if genetic variants associated with principal component-derived areal bone mineral density (aBMD) loading scores.Methods: Our sample comprised 1,293 children of European ancestry enrolled in the longitudinal Bone Mineral Density in Childhood Study (52% female). The participants completed up to 7 annual study visits. From dual energy X-ray absorptiometry scans, sex and age-specific aBMD Z-scores were calculated for total hip, femo...

Objective: The forearm is a common fracture site during childhood, but DXA pediatric reference data for areal bone mineral density (aBMD) at the ultradistal (UD) radius are lacking. The objective of this study was to first, develop age-, sex-, and ancestry-specific reference data for UD radius aBMD; second, assess the relationship between UD radius aBMD and a) other DXA aBMD measures and b) radius bone volumetric density and geometry by pQCT; and third, examine the tracking of...