Bone Abstracts

The massive amount of genetic information made available by next generation sequencing (NGS) has already changed our clinical and scientific approach to skeletal disorders. As one consequence the gap between rare monogenic disorders and common complex disorders is becoming more permeable. On the one hand this is due to the finding that rare variants with larger effect sizes also have significance for common disorders. On the other hand, broader testing strategies reveal a cons...

Proton pump inhibitors (PPIs) are a class of drugs particularly used in gastric disorders. They promote a decrease on gastric acid secretion by inhibiting the H+/K+ ATPases. Osteoclasts are cells specialized in bone resorption by H+ translocation to the bone surface. Thus, PPIs might be regarded as potential tools to modulate osteoclast resorption activity, particularly in conditions that are associated with a hyperactivation of osteoclasts, li...

It is hypothesized that osteocytes regulate bone adaptation by sensing mechanical strains in their microenvironments and signaling net bone formation or resorption. Owing to bone’s anisotropic architecture, individual osteocytes within a bone experience varying strains under mechanical loading. Thus, to accurately determine the relationships between mechanical strain, osteocyte behavior, and bone remodeling, it is crucial to use a single-cell approach. Using an in viv...

Although trials have shown that exercise has positive effects on bone mineral density (BMD), not all exercise modalities are osteogenic and the majority of exercise trials have been conducted in older women. The aim of this study was to systematically review trials examining the effect of weight-bearing and resistance-based exercise modalities on the BMD of hip and lumbar spine of middle-aged and older men. Eight electronic databases were searched in August 2012. Only randomis...

Introduction: The FRAX algorithm, by evaluating the 10-year risk of hip and major osteoporotic fractures, weights greatly on the clinicians’ decision to treat a patient with an antiosteoporotic drug. The FRAX tool has recently been validated for the Portuguese population.With this work, the authors intended to assess FRAX accuracy when retrospectively performed in patients with hip fracture.Methods: A retrospective cohort stud...

Bone marrow is composed of cells developed within the marrow compartment as well as blood supplied from the general circulation. Bone tissue is affected by cytokines within the bone marrow.We investigated if the levels of different bone acting cytokines differ between bone marrow and blood from the peripheral circulation.Fifty-three healthy postmenopausal women participated in a study designed to evaluate the effect of rosiglitazon...

Since 1997, GH therapy has been approved for skeletal disorders including ACH and HCH patients in Japan. The efficacy of GH therapy for short period has been reported in several study. However, few study about efficacy and safety of GH therapy for long term have been shown. The aim of our study is to examine that GH therapy for HCH patients is efficient and safe enough and improve final height and proportion.18HCH patients (11 males and seven females) wh...

A 29 week pre-term female infant, Molly (not real name), was referred to our multi-disciplinary Metabolic Bone Disease Service at the age of 19 months, with a combined diagnosis of inherited osteogenesis imperfecta (OI) and cerebral palsy (CP) spastic quadriplegia, resulting from a intra-ventricular haemorrhage at 7 weeks-old.Diagnosis of OI was confirmed at birth following fractures. Molly was treated with IV Pamidronate from the age of 6 weeks at a loc...

Introduction: Paget’s disease of bone (PDB) is a common disorder characterised by increased and disorganised bone remodelling. Previous genome wide association studies identified a locus for susceptibility to PDB on chromosome 1p13, tagged by rs484959 which lies 87 kb upstream of the CSF1 gene. This is a strong candidate for PDB since it encodes macrophage colony-stimulating factor (M-CSF) a critical cytokine for osteoclast formation and survival.Pu...

Bone disease is the most frequent complication in multiple myeloma (MM) resulting in pain, bone fractures, spinal cord compression and hypercalcemia. Within the bone marrow microenvironment (BMM), MM cells interact with bone cells to enhance bone resorption activity and compromise new bone formation mechanism; in turn, BMM provides a survival and drug resistance framework by interaction of MM cells with bone marrow components. Exosomes are important mediators of crosstalk betw...