Bone Abstracts

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

Background: Cardiovascular disease is the leading cause of death in pediatric (ped) and adult ESRD patients. Left ventricular hypertrophy (LVH) is an independent predictor of mortality in ESRD. Besides traditional risk factors, such as high BP & fluid overload, high plasma FGF23 is associated with LVH in adult ESRD patients. Little is known about Kl, the renally produced cofactor of FGF23 for phosphorus (P) homeostasis. We studied ped HD patients for risk factors for LVH, ...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

STRUCTURE was a phase 3, open-label study evaluating the effect of romosozumab or TPTD for 12 months in women with postmenopausal osteoporosis transitioning from bisphosphonate therapy (NCT01796301). This study enrolled women with postmenopausal osteoporosis who had taken an oral bisphosphonate for ≥3 years prior to screening and alendronate in the year prior to screening; had a BMD T-score ≤−2.5 at the total hip (TH), lumbar spine (LS), or femoral neck (FN);...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...

Introduction: We recently showed that patients with primary Sjögren Syndrome (pSS) have significantly higher bone mineral density (BMD) in the lumbar spine and femoral neck compared with healthy controls. The majority of those patients (69%) were using hydroxychloroquine (HCQ), which may have favourable effects on BMD.Aim: To evaluate whether HCQ modulates human bone cells in vitro.Methods: Osteoblasts were differenti...

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients – 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...