Bone Abstracts

Objective: Several reports suggest very low persistence with oral bisphosphonates, but there is a scarcity of data on persistence with other anti-osteoporosis medications. We therefore compared rates of early discontinuation (in the first year of therapy) between all available outpatient anti-osteoporosis drugs in Catalonia, Spain.Study design: population-based retrospective cohort study.Participants and source of data: The data in...

Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are systemic, immune-mediated diseases. RA’s main targets are the peripheral joints while AS has the axial skeleton and enthesis as the principal affected areas. RA is characterized by bone erosions and impaired repair whilst AS is typified by bone overgrowth. The causes for these differences are not yet understood; however we hypothesize that AS patients’ monocytes receive reduced osteoclastogenic stimuli and...

Recent studies have demonstrated the role of osteocalcin in energy metabolism regulation having a connection between this and bone metabolism. According to this, anti-osteoporotic drugs may exert different effects on energy metabolism. Thereby, our aim is to evaluate the effects of antiresorptive (Denosumab) and osteoanabolic (Teriparatide) drugs that reduce or increase respectively osteocalcin levels, on energy and bone metabolism by assessing of undercarboxilated osteocalcin...

Introduction: Gaucher disease (GD), the most prevalent glycolipid storage disease, is an autosomal recessive metabolic disorder that is caused by an inherited deficiency of the lysosomal enzyme, glycocerebrosidase. This defect leads to reduce enzyme activity, resulting in the accumulation of glucosylceramide in cells of the monocyte-macrophages linage, known as Gaucher cells. Common presenting features include anemia, thrombocytopenia, hepatosplenomegaly and bone abnormalities...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...

Background: Current extension in the usage of growth hormone therapy (GHT) has increased the prevalence of bone complications. Legg Calvé Perthes disease (LCPD) is characterized by idiopathic avascular necrosis of the proximal femoral epiphysis. More frequently in boys between 4 and 8 years, LCPD is of unknown ethology. An increased incidence has been stated in case of GH deficiency. There is increasing data that children with LCPD may have a more widespread skeletal diso...

Background: Zoledronate, a third generation bisphosphonate, has showed high efficacy in the inhibition of bone resorption. The objective of this observational study was to assess short and long-term efficacy and safety of zoledronate in the treatment of active Paget’s disease (PD).Methods: Patients with active PD treated with zoledronate 5 mg were consecutively recruited. Clinical and laboratory parameters were determined before, at 3 and every 6 mo...

Background: Melorheostosis also known as Leri’s disease or flowing periostal hyperostosis is a rare nonfamilial sclerosing bony dysplasia of poorly understood etiology. It is characterised by soft Tissue contractures with overlying slowly evolving linear hyperostosis. Radiographic findings are helpful in the diagnosis, these consist of irregular hyperostosis extending along the length of one side of the long bone, resembling flowing candle wax. Treatment is mainly symptom...

Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 2–3% of children with NF1. The distal end of the fibula and other long bones can also be affected.Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI....