Bone Abstracts

Mutations in the PHEX gene cause X-linked familial hypophosphatemic rickets (XLH) with severe bone (osteomalacia) and tooth abnormalities being the distinguishing features of this disease. The PHEX mutations lead to an increase in ASARM peptides (acidic serine- and aspartate-rich motif) and osteopontin fragments which inhibit bone extracellular matrix mineralization. MEPE-derived ASARM has been shown to accumulate in tooth dentin of patients with XLH where it may impair dentin...

Introduction: Aim of this study was to evaluate connections between Blood Pressure values and hypovitaminosis D states in elderly women with severe osteoporosis.Design and methods: The subjects were all >80: 63 women (mean age 84+3) affected by severe osteoporosis. In 26 women we discovered a new spinal fracture after treatment. Thirty-seven women had multiple spinal fractures (>3). Among subjects with severe osteoporosis we selected 37 ...

Objective: To determine if milk is always good for preventing osteoporosis in children anyway.Materials and methods: Worldwide bibliography review on the problem and our experience.Results: Studies performed in children and adolescents relate to the subject of the long-term relative effects on bone health of the protein content of the diet compared with that of the diet’s net load of acid in the body. Long-term acid loading in...

Aim: Determining level of vitamin D and other conditions in children with osteoporosis.Methodology: Bibliography review in a worldwide basis about the issue and what we have observed.Outcome: We studied the level of 25OHD3 in all patients with osteoporosis and osteopenia. 25OHD3 95% deficit was found in these patients when reduced bone mass occurs. There are several disorders for hypocalcemia. Intestinal malabsorption syndromes, re...

Polyphosphates (polyPs) are inorganic phosphate chains found in many cell types with higher concentrations in bone cells. As a source of inorganic phosphate (Pi) and an effective calcium reservoir due to chelation, PolyPs enable total Ca2+ and PO42− concentrations above those required for apatite saturation. Alkaline phosphatase (ALP) cleaves Pi from polyP, thus polyPs may be involved in apatite mineralization.Aim: ...

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare genetic disease due to reduced osteoclast function. Clinical manifestations are variable, and in some cases the symptoms, including frequent fractures, osteomyelitis, hematologic and neural failures, are already evident during childhood and worsen with age. In 70% of cases, ADO2 is caused by heterozygous dominant negative mutations of the CLCN7 gene, encoding the Cl−/H+ antiporter type 7. We hypothesized that silen...

Breast to bone metastasis is a common incurable event during breast cancer progression. Identifying the molecular mechanisms at play is vital for the development of new therapies. Matrix metalloproteinases, such as MMP-2, are overexpressed in the bone metastatic microenvironment. Genetic ablation of MMP-2 demonstrated its importance of in driving osteolytic bone metastatic breast cancer and support the rationale for the development of a highly specific MMP-2 inhibitor for the ...

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...

Background: Surgical treatment of type 2 diabetes, specially in obese patients, has provided good results in the control of blood glucose and Hb1Ac although its effect on bone health is not clear. The aim of this study was to evaluate gene expression of bone remodelling markers in type 2 diabetic Goto-Kakizaki (GK) non-obese rats after gastrojejunal bypass and sleeve gastroplasty, and their relationship with hormonal parameters.Materials and methods: We ...

Pioglitazone is a drug of the thiazolidinedione (TZD) class used to treat type 2 diabetes mellitus. TZD is an agonist of peroxisome proliferator-activated receptor γ (PPAR-γ) that improves insulin sensitivity, glucose and lipid metabolism and inflammation. However, TZD induces bone marrow adiposity with suppression of osteogenesis, that could contribute to bone loss and osteoporotic fractures. β-Cryptoxanthin is a carotenoid with antioxidant properties abundant ...