Bone Abstracts

Background: Noonan syndrome (NS) is a genetic multisystem disorder characterized by distinctive facial features, learning difficulties, short stature, and cardiac defects. Other important findings include skeletal anomalies, especially spinal and chest deformities. Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation and growth including bone homeostasis. We ...

Background: We have recently identified interleukin 1B (IL-1B) as a potential biomarker for predicting breast cancer patients at increased risk for developing bone metastasis. In mouse models, IL-1B and its receptor (IL-1R1) are upregulated in breast cancer cells that metastasise to bone compared with cells that do not. We have now investigated whether blocking IL-1R with the clinically licensed antagonist, anakinra, might be a potential treatment for breast cancer and bone me...

Infantile malignant osteopetrosis (IMO) is a rare, lethal, recessive disorder characterized by dysfunctional osteoclasts. TCIRG1, encoding the osteoclast V-ATPase, is mutated in 50% of IMO patients. We have previously shown that the resorptive function in osteoclasts derived from IMO patients can be restored in vitro by expressing TCIRG1 using a lentiviral vector. In this study, we aim to investigate the cellular response to vector-derived TCIRG1 expression and to det...

Objective: Muscular dystrophy is characterized by lower skeletal muscle quality, lower muscle strength and physical performance. The aim of the study was to assess regional muscle density and its correlation with regional muscle area in Duchenne muscular dystrophy (DMD) subjects and able bodied controls.Method: Skeletal muscle pQCT (peripheral quantitative computed tomography) scans at the non-dominant forearm were performed in patients with muscle dystr...

Bone has recently emerged as a novel endocrine organ regulating glucose metabolism. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (NPP1) controls bone mineralisation by generating the mineralisation inhibitor pyrophosphate. In clinical studies increased activity of NPP1 has been found in patients with insulin resistance, and it has been shown to directly inhibit the insulin receptor. We hypothesised that mice lacking NPP1 (Enpp1−/−) would exhibit im...

Objective: To determine serum 25-lydroxivitamin D (25OHD) and intact parathyroid hormone (PTH) levels in an immobilized population from Northern Spain.Subjects and methods: We studied 125 immobilized people (37 men and 88 women) aged 53–101 years. (85±8 years.). Seventy-five percent of the subjects lived at home, residing in nursing homes the remaining 25%. None of them received antiresorptive therapy, corticosteroids or vitamin D supplements. ...

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...

Objectives: This study aims to evaluate and compare the preferences of patients and health care professionals for osteoporotic drug treatment.Materials and methods: A discrete choice experiment was conducted among patients and health care professionals (general physicians, rheumatologists, and geriatricians) in Belgium. Participants were asked to choose between two hypothetical unlabelled drug treatments (and an opt-out option) that vary in several attri...

Osteoporosis (OP) is characterised by reduced bone mass, due to an insufficient osteoblast-mediated bone formation, unable to replace the bone tissue removed by osteoclasts. Mesenchymal stem cells (MSCs) are multipotent cells capable of differentiating into osteoblasts, adipocytes and chondrocytes. Epigenetic marks like DNA methylation could influence the differentiation potential of these cells into osteoblasts and, consequently, the risk of OP. To explore this hypothesis, we...

Alkaline phosphatase activity is critical for the mineralization of the bone matrix. Indeed, inactivating mutations of the ALPL gene, encoding the isoenzyme expressed in bone and liver, may result in the severe abnormalities of bone and other connective tissues that characterize hypophosphatasia. Nevertheless, the clinical spectrum of hypophosphatasia is rather broad and variable between a within families. Thus, along severe infantile forms, there are adult forms with mild man...