Bone Abstracts

Introduction: Bisphosphonates gain increasingly greater significance in treatment oncologic diseases with bone metastasis. However, a lot of articles have lately been published in dental and oncological journals on jaw osteonecrosis (ONJ) associated with long-term ingestion of bisphosphonates. Besides extension of clinical recommendations for zolendronate use, most commonly referred to in connection with ONJ, for treatment of Paget’s diseaseand other disturbances of bone ...

Aim: Evaluate the differences with densitometry after 2-year treatment in patients with breast cancer and LBMD.Materials and methods: A 2 year duration longitudinal study was done in patients diagnosed with breast cancer sent to the Rheumatology Osteoporosis Unit in Hospital d’Ontinyent, who required supplements of calcium and vitamin D+bisphosphonates after a risk fracture study. Socio-demographic data, breast tumor characteristics, risk f...

The aim of the research: To investigate the effect of combined calcium and vitamin D therapy (calcium 1000 mg, vitamin D 400 IU) on 25(OH)D level and concentration of bone turnover markers in patients with systemic postmenopausal osteoporosis.Methods: 20 women with systemic postmenopausal osteoporosis were examined. The average age of the patients was (63.0 (59.00; 68.00)) years. The study was performed during winter season to exclude the influence of se...

Despite mutations in SQSTM1 gene have been detected in up to 50% of patients with familial Paget’s disease of bone (PDB), their prevalence is low in sporadic PDB, likely due to the presence of additional predisposition genes. Recently, at least seven genes were associated with PDB in genome-wide-association studies, including polymorphic variation in OPTN,encoding for optineurin. In particular, a single OPTN variant (rs1561570) was highly associated with...

Objectives: Erythropoietic protoporphyria (EPP) is a rare disease with cutaneous photosensitivity, in which patients avoid sun exposure and use sunscreen. Our purpose was to study bone mineral density (BMD), serum 25-OHD levels and other mineral parameters, to evaluate the impact of these measures in the follow-up of EPP patients.Patients and methods: A ten EPP patients (median age 25; range 22–55, four males and six females), were study for clinica...

Objective: To investigate whether patients with secondary osteoporosis or other metabolic bone disease (SECOB) have a higher re-fracture or mortality risk.Method: Patients with a recent non-vertebral fracture who visited the Fracture Liaison Service (FLS) of a hospital were prospectively followed for 2 years. Pearson Chi-square, Fisher’s Exact test, independent samples T-test, and Cox regression models were used.Results: In to...

Patients with chronic inflammatory diseases such as psoriasis are at high risk for developing osteoporosis. Psoriatic arthritis patients exhibit bone loss caused by increased bone resorption through activation of osteoclasts. However, it is not clear whether psoriasis can lead to bone loss in the absence of arthritis. Using mouse models with skin inflammation as well as psoriasis patient samples, we show that increased circulating IL-17A from the inflamed skin triggers bone lo...

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...