Bone Abstracts

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

The quantitative ultrasound (QUS) of the proximal phalanges has been used for the indirect evaluation of bone status. Furthermore, the relative simplicity and non-exposure to radiation, presents advantages for the use of QUS compared to other methods in children and adolescents. The aim of this study was to determine the influence of age and pubertal development on Amplitude Dependent Speed Sound (AD-SoS) assessed by QUS of proximal phalanges in girls and boys aged 10–15 ...

Few drugs generate bone-stimulatory effects via epigenetic mechanisms. Modulation of CpG-residues hydroxymethylation in gene-promoters of key osteoblast-related factors (e.g., DLX5) induces their expression and increases osteoblast differentiation in vitro. The chemical properties of sulforaphane (SFN), a natural compound abundantly present in cruciferous vegetables like broccoli, suggest that it may have similar molecular and biological effects. Previous stu...

Objectives: Type 2 diabetes mellitus (T2DM) is associated to an higher risk of fractures despite a normal or increased bone mineral density measured by dual-energy X-ray absorptiometry (DXA).The purpose of this 3-years longitudinal study was to assess the changes of quantitative ultrasound (QUS) parameters in a group of postmenopausal women with T2DM and in healthy controls.Materials and method: The analyses were performed on a gro...

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...

Odanacatib (ODN), a selective oral inhibitor of cathepsin K, is in development for the treatment of osteoporosis. In the Phase 3, Long-Term ODN Fracture Trial (LOFT; NCT00529373), ODN significantly reduced fracture risk. This imaging sub-study primarily investigated the effect of ODN on volumetric BMD (vBMD) of the lumbar spine (LS) and total hip (TH) using quantitative computed tomography (QCT).Women aged ≥65 without baseline radiographic vertebra...

Rheumatoid arthritis (RA) is characterised by periarticular bone destruction leading to permanent disability. Some other forms of arthritis, such as arthritis in systemic lupus erythematosus (SLE), rarely produce bone lesions. Corresponding to that, inactivation of Fas produces a murine SLE-like phenotype, but alleviates bone loss during antigen-induced arthritis (AIA). Aim of this study was to identify cell populations differentially regulated in non-resorptive vs. resorptive...

Individuals with Down syndrome (DS) have a number of phenotypic features, including a short stature. It has been reported that people with DS have lower areal BMD than the general population, but this may be a biased result due to the smaller size of the skeleton, and it is unclear if individuals with DS have fragile bones. Thus, the objective of this study was to explore the skeleton of DS using two techniques, TBS and calcaneal ultrasound, which are not influenced by bone si...

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...

Background: Several bone metabolic pathways are disrupted in diabetes mellitus (DM), leading to reduced bone mass. Increased fracture risk and elevated Dickkopf-1, which is an inhibitor of the Wnt/b-catenin bone metabolic pathway, have been documented in adult patients with type 2 DM. No relevant data exist on childhood type 1 DM (T1DM).Objective and hypotheses: We aimed at studying plasma Dickkopf-1 concentration in children and adolescents with T1DM an...