Bone Abstracts

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

Pathophysiological calcification in the vasculature favours cardio- and cerebrovascular diseases. In patients with chronic kidney disease vitamin K metabolites are associated with decreased vascular calcification.We investigated the expression of vitamin K dependent proteins (VKDPs) in vessels and bone to identify differences in expression pattern during atherosclerosis (AS) stages and compare the two tissue profiles.Gene expressio...

Objectives: Activity duration and the daily patterns of activity during childhood and adolescence could contribute to long-term bone health. We examined cross-sectional associations between 11 and 12 year old children’s bone health and (1) durations, (2) patterns, and (3) combined durations and patterns of moderate-vigorous physical activity (MVPA) and sedentary behaviour.Methods: Design: Population-based cross-sectional study nested within...

Calcification in the vasculature is one of the leading causes of cardiovascular diseases and mortality outcomes. Therefore, the aim of our study was to investigate changes in the gene expression of calcification regulators (CR) in arterial vessels during different stages of atherosclerosis and to document potential corresponding changes in the bone. OPG, RANKL, OPN, MGP, BSP-II and RUNX2 were candidate genes for our study in bone, aorta and arteria ilica externa tissue samples...

Introduction: Calcification of vessels, especially media calcification, in combination with bone demineralization and disturbed bone metabolism is abundant in patients suffering from end stage renal disease (ESRD). In this project, we compare biomarkers of calcification with a focus on microRNAs from ESRD patients listed for renal transplantation (RTX) and healthy controls.Methods: Samples are collected from kidney transplant patients. At the same time t...

Introduction: Research on biomaterials for bone regeneration generates a plethora of new biomaterials requiring evaluation with reliable and comparable methods of biocompatibility and functionality for clinical translation. To reduce the burden of in vivo assessment, there is a need for refined in vitro assays that are predictive of in vivo outcomes. This retrospective study correlated in vitro results with in vivo outcomes observed...

Destructive bone lesions due to osteolytic bone disease (OBD) are a major cause of morbidity and mortality in multiple myeloma (MM) patients and the development of new therapeutic strategies is of great interest. In this study, we assessed the effect of SRC inhibition with saracatinib (AZD0530, AstraZeneca) on the development of MM and its associated OBD. We first determined SRC family kinase expression in the MM microenvironment and found that myeloma cells express SRC at low...

Background: Pathophysiological calcification in the vasculature is a risk factor for cardiovascular disease (CVD). CVD are among the most common causes of death in patients with chronic kidney disease and crucial for kidney transplantation (RTX) outcomes.Aim: The aim of this study is to identify differences in the pattern and the onset of expression of regulators of calcification (RC) in atherosclerosis (AS) and media sclerosis (MS).<p class="abstext...

Despite its importance, the resorptive surface of osteoclasts has not been directly visualised. We exploited a novel approach that enables us to inspect the substrate-apposed surface of cells. To achieve this, we incubated osteoclasts on vitronectin-coated nail varnish and, afterwards, we dissolved the substrate and visualised the cells resorbing-side up in the scanning electron microscope (SEM). We then employed confocal microscopy to correlate the SEM appearances with the di...

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...