Bone Abstracts

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Background: Hypophosphatasia (HPP) results from inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). Substantial improvement has been reported in skeletal mineralization and physical function in patients (pts) with life-threatening perinatal and infantile HPP treated for 48 weaks with asfotase alfa, a bone-targeted recombinant human TNSALP.Objective: To evaluate long-term efficacy and tolerability of asfotase alfa i...

Background: Eosinophilic granuloma (EG) typically affects children in the first two decades of life, mainly involving vertebrae and long bones. This study presents the first –to the best of our knowledge - case of a unifocal EG of the femur, successfully treated with percutaneous image-guided radiofrequency ablation (RFA), which was monitored pre- and post-ablation with MRI-scans to validate the efficacy of this method.Presenting problem: A 16-year-...

Objective: To study any possible relations of vitamin D status and metabolic syndrome (MetS) components in children, since there is evidence for extraskeletal functions of vitamin D, and its deficiency may contribute to the pathogenesis of several major diseases. In addition to explore any possible role of birth weight (BW).Methods: Clinically healthy children aged 3–9 years (n=152) were included in the study. Forty-six were born large for ...

Background: Cancer patients often receive a combination of drugs that target both the microenvironment and the tumour cells. However, the role of the bone microenvironment (BME) in mediating peripheral breast cancer growth remains poorly understood. This is the first study to determine whether reduced subcutaneous tumour growth following combination therapy is due to direct interactions between the drugs and tumour cells or through zoledronic acid induced alterations to the BM...

Introduction: Fibroblast growth factor (FGF23) is a hormone derived from osteoblasts and osteocytes being involved in calcium and phosphate homeostasis, where serum iron (S-Fe) has been suggested as a potential mediator of FGF23 regulation. The aim was to determine whether iron status is a determinant of FGF23 in elderly men.Methods: The MrOS (osteoporotic fractures in men is a population based study of elderly men, in the Gothenburg part, (median age of...

Purpose: Denosumab is commonly used as an anti-resorptive agent to treat osteoporosis. After discontinuation of denosumab, however, bone resorption increases again, and the bone mass gained during therapy is lost within a year.Methods: We present a case report of asymptomatic hypoparathyroid hypercalcemia in a patient who discontinued long-term treatment with denosumab.Results: A 67-year old women with osteoporosis was treated with...

Background: Osteogenesis imperfecta [OI] is a disorder of bone fragility with a variable spectrum of severity and poor correlation of antenatal findings with postnatal outcome. We present two antenatal diagnosed cases with a mild postnatal course significant for the absence of fractures and progressive remodelling of the long bones. A novel heterozygous pathogenic mutation predicted to replace glycine with aspartic acid at position 913 in exon 42 of the COL1A2 gene has been id...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by hyperphosphatemia and the formation of tumor-like extra-osseous calcifications. Tumors often necessitate surgical management although medical treatment may limit the need for surgical intervention. We present two cases of HFTC successfully managed with combination acetazolamide (ACTZ) and sevelamer carbonate.Case Report #1: A 5-year-old African boy with a loss-of-functio...