Bone Abstracts

Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are two phenotypes of a disease associated with autosomal recessive mutations in FGF23, GALNT3 and KL, leading to reduced levels and clinical effects of fibroblast growth factor 23 (FGF23). We describe a consanguineous family with two affected individuals with HFTC and HHS caused by a novel homozygous mutation in GALNT3. We also...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Multiple myeloma (MM)-bone disease occurs in 70 to 80% of patients at MM diagnosis, and up to 90% at relapse; skeletal related events cause high morbidity and mortality. MM-bone disease consists of lytic lesions arising as a consequence of an unbalanced bone remodelling due to osteoclast (OC) activation, and osteoblast inactivation. Osteoclastogenesis may be under immune cell regulation through the production of numerous cytokines, such as LIGHT/TNFSF14, a newly identified mem...

Bone marrow is the main hematopoietic organ of adults. There, hematopoietic stem cells from which all hematopoietic lineages can be generated are preferentially homing. Importantly, bone provides niches for early B cell differentiation and survival of long-lived plasma cells that produced antibodies. Thus, that perturbing bone homeostasis might impact B cell function and antibody production is a highly relevant hypothesis for patients receiving antiresorptive drugs.<p clas...

Diabetes is associated with increased risk of fracture, although type 2 diabetes mellitus (T2DM) is characterized by normal bone mineral density (BMD). Thus, diabetes may be associated with a reduction of bone strength that is not reflected in the measurement of BMD. It is very problematic to measure the bone quality in daily practice. Trabecular bone score (TBS) iNsight® is one of these tools, now available for routine clinical practice, that allows for refinement of mic...

Objectives: To compare the incidence of osteoporosis and the related factors among fracture sites in above 50-year-old patients with fractures caused by low-energy trauma.Materials and methods: 714 patients with fracture from low energy trauma were evaluated retrospectively. By the dual-energy X-ray absorptiometry, we measured bone mineral density BMD at lumbar spine and proximal femur, and compared the incidence of osteoporosis, age, sex, BMI, previous ...

Introduction: Effective treatment of postmenopausal osteoporosis (PMO) is frequently compromised by poor adherence to short-term (≤1-monthly) medications. Aim of this study is to investigate the effect of parenteral ibandronate (IBN) compared to denosumab in a cohort of IBN pretreated PMO patients.Methods: In a retrospective analysis, a total of 808 women were treated with quarterly 3 mg IBN injections for 27+3 months and were regularly mo...

To use HRpQCT to investigate the effects of short term but intense exercise on the bone architecture of the distal radius in exercise-naïve women, with the ultimate aim of developing exercise regimes for children that will maximise their peak bone mass.We have recruited 16 of 20 proposed exercise-naïve women, aged 18–25, for a 12-week exercise study. The exercise consists of supervised hammering of a metal plate, using their dominant arm, ...

The aim of the study is to determine whether there is an imbalance between bone formation and bone resorption in nonbacterial osteitis. The osteoclast inhibitor pamidronate has been successfully used in nonbacterial osteitis. It is assumed, that there is any mismatch in the pathophysiology of osteoblasts or osteoclasts. Until now, we have no known publications on bone metabolism in nonbacterial osteitis. We chose osteoprotegerin (OP) and alkaline phosphatase (AP) as markers of...

Within a living organism, the adaptive immune system, e.g. cytotoxic T lymphocytes (CTLs), induce apoptosis in tumor cells, and therefore limit tumor development. Bone marrow is a mysterious hidden place for different tumor cells and the anti-tumor immunity in the bone marrow is important because the specific microenvironment had been considered to contribute to escape of tumor cells from immune attack. However, the practical mechanism of anti-tumor immune elimination by CTLs ...