Bone Abstracts

Background: Skull development is a tightly regulated process that occurs along the osteogenic interfaces of the cranial sutures that allow rapid bone formation at the edges of the bone fronts. Premature closure of cranial sutures can result in pathological conditions such as Craniosynostosis. The mechanosensory proteins Polycystin 1 (PC1) and 2 (PC2) have been shown to regulate skeletal development and potentially suture formation.Aim: The aim of study w...

Bone remodeling is a crucial process to maintain a healthy bone structure in order to avoid diseases like osteoporosis or osteopetrosis. Osteoclasts contribute to this process by resorbing old and brittle bone allowing osteoblasts to renew the bone substance. During resorption osteoclasts rearrange their actin cytoskeleton by forming an F-actin ring generating a resorptive cavity on the bone surface. Recently, we reported that the F-actin binding protein SWAP-70 regulates oste...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

Aim: Lean mass is a strong determinant of bone structure, particularly during growth and development. We sought to determine if there are sex differences in bone acquisition in pre-pubertal children and the potential relation with skeletal loading.Methods: This study included 3602 children (50.7% girls) whose total body BMD and hip scans were measured on the same iDXA devise (GE-Lunar) at 6 years of age. Hip scans underwent hip structural analysis (HSA) ...

Introduction: Despite similarities in upfront treatment, impairment of bone mineral density(BMD) varies in long-term adult survivors of childhood cancer (CCS). We studied for the first time whether genetic variation is involved in impairment of BMD in adult long-term CCS.Method: This cross-sectional single-center cohort study included 334 adult CCS (median follow-up time: 15.2 years (range 5.1–39.8); median age at follow-up: 26.1 years (range 18.1&#...

Multiple myeloma (MM) bone disease is characterized by lytic bone lesions that contribute to patient morbidity and mortality after patients are in complete remission. The mechanisms mediating this long-term osteoblast (OB) suppression are poorly understood. We hypothesized that MM cells induce epigenetic changes at the Runx2 promoter in preOB bone marrow stromal cells (BMSC). We demonstrated that Gfi1, a transcriptional repressor of Runx2 that is induced in B...

Background: Low total body BMD (TB-BMD) is an established risk factor for fractures in healthy children. However, bone strength depends not only on bone mass and density, but also on the structural geometry of bones. Hip structural analysis (HSA) is a technique applied on hip DXA scans to calculate several bone geometry parameters. The aim of our study was to evaluate other bone geometrical parameters that can constitute determinants of fracture risk. Specifically, we examined...

Introduction: Parathyroid hormone (PTH) measurement is of use in i) differential diagnosis of hypercalcaemia and ii) patients with renal impairment at risk of bone disease. PTH immunoassays are complicated by cross-reactivity with truncated (inactive) variant forms, which accumulate in patients with renal impairment. PTH assay variability is a critical governance issue in renal medicine, suggesting an MS-based reference method is required.Aim: To develop...

Denosumab (DMAb) has a unique profile of bone resorption inhibition: CTX decreases rapidly by 3 days and inhibition is released at the end of the 6-month dosing interval, when DMAb serum levels decrease (McClung NEJM 2006). The dynamic CTX inhibition profile is not curtailed by continued treatment. In the 3-year FREEDOM study, CTX values at 6 months were influenced by baseline CTX values and days since the 1st injection (Eastell JBMR 2011). With 3 additional ...