Bone Abstracts

Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...

Background and Objectives: Rheumatoid arthritis (RA) is a chronic disease characterized by severe bone destruction which has been associated with altered lipid metabolism. Apolipoprotein E (Apo E) is a lipoprotein mainly produced by macrophages. ApoE has been described as crucial in lipid metabolism but also as an important anti-inflammatory mediator regulating innate immunity and bone turnover. In the present study we investigated the role of Apo E in bone destruction during ...

Introduction: Recent data suggest that imbalances in lipid metabolism affect bone cell function resulting in osteoporosis. Here, we investigated the role of apolipoprotein E (ApoE), essential component of chylomicron and very low density Lipoprotein metabolic pathways, in the regulation of osteoblast and osteoclast function and thus in the pathogenesis of osteoporosis.Material and methods: We used apoE deficient (ApoE−/−) and wild ...

Introduction: Recent data suggest that lipid metabolism imbalances affect bone cell function and therefore may result in the development of osteoporosis. We investigated the role of apolipoprotein-E (ApoE), a plasma protein playing cardinal role in lipoprotein metabolism, in the regulation of osteoblast and osteoclast function and the pathogenesis of osteoporosis.Material and methods: We used apoE deficient (ApoE−/−) and C57BL/6 (c...

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...

Osteocytes make up >90% of bone cells, are embedded in mineralised matrix where they form a communication network. Osteocytes differentiate from osteoblasts, and are mechano-sensitive. They are very difficult to isolate with a dependence on cell lines for in vitro studies of osteocyte biology. Therefore new methods to study these cells are essential. Recent publications indicate that osteoblasts maintained in in vitro 3D collagen gels may differentiate to...

see PP291....

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

see PP245....

Osteocytes differentiate from osteoblasts, are embedded in mineralised matrix and are critical regulators of bone remodelling. In vitro osteocyte models are limited to cell lines in monolayer, which do not represent their 3D environment in vivo. We have shown that osteoblasts in 3D gels differentiate along the osteocytic pathway. Since IGF1 regulates osteoblasts, and is involved in osteocyte response to mechanical loading, we hypothesised that IGF1 modulates ...