Bone Abstracts

Emerging evidence suggests that miRNAs (miR) can modulate a complex gene network in a cell-intrinsic and non-cell autonomous manner. We previously identified by transcriptomic analysis miR-192 to be heavily downregulated in different highly metastatic subpopulations (HMS) isolated from bone metastases in a lung cancer mice model, but its mechanistic contribution to the prometastatic activity remains unknown.To delineate the pleiotropic functions elicited...

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...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

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...

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...

Objective: We evaluated the effect of risedronate on BMD and bone turnover markers in HIV infected osteoporotic males, according to their gonadal status.Methods: 41 HIV patients treated with highly active anti-retroviral therapy (HAART) were followed for 24 months and divided into two groups: patients with osteoporosis or osteopenia with fractures (Group A, n=20) and those without (Group B, n=21). Group A and B were fur...