Bone Abstracts

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Background: There are currently 456 rare bone disease recorded within 40 groups. Within many of these diagnoses there is marked heterogeneity of severity and complications that is often not explained by current understanding of disease mechanisms. There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies based on understanding sub-phenotypes within existing diagnostic groups.Aim: To develop a nationa...

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Spatial distributions of major and minor chemical elements are supposed to change during tissue maturation and due to bone diseases. Previous studies suggested that osteocytes have the ability to interact with the bone matrix of their environment. For this interaction osteocytes make use of the big inner surface of the osteocyte lacuno-canalicular network (OLCN) in which they are accommodated. The aim of this study was to quantify spatial correlations between the elemental com...

The co-chaperone, Bcl-2-associated athanogene-1 (BAG-1), is expressed by chondrocytes and osteogenic cells, and interacts via heat shock chaperones (HSC70/HSP70) with diverse proteins such as nuclear hormone receptors to regulate cell proliferation, differentiation and apoptosis. Early embryonic lethality in Bag-1 null mice has limited the investigation of the function of BAG-1 in skeletal development. The present study aimed to elucidate the role of BAG-1 in skeletal...

High resolution peripheral quantitative computed tomography (HR-pQCT) in combination with micro finite element analysis (μFEA) is a promising tool to assess longitudinal changes in bone mechanical properties during the fracture healing process in the distal radius. In the present study we investigate if these changes can be detected as well when using images with lower resolutions, comparable to clinical QCT images.Postmenopausal women with a stable...

The autophagy protein LC3 is necessary for bone resorption by osteoclasts, although it has been suggested that this may be through a novel, autophagy-independent process, by promoting lysosomal fusion at the ruffled border (RB). This process would be analogous to LC3-associated phagocytosis (LAP), in which LC3 is acquired by phagosomes through an autophagy-independent process, and controls phagosome maturation by promoting fusion with lysosomes. We have investigated this possi...

Deficiency of Cyclophilin B (CyPB) causes recessively inherited Type IX osteogenesis imperfecta, a moderately severe to lethal bone dysplasia. CyPB, encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that catalyzes the rate-limiting step in collagen folding, and also functions as a component of the collagen prolyl 3-hydroxylation complex. We previously demonstrated in a Ppib−/− mouse model that CyPB PPIase activity r...

Background: While the relationship between visceral (VFAT) and subcutaneous (SFAT) fat mass with cardiometabolic risk has been demonstrated in adults, fat mass evolution during teenagehood remains poorly explored and usually assessed with irradiative (CT) or expensive (MRI) techniques. Our aim was to evaluate a novel technique derived from DXA to assess VFAT and SFAT in healthy teenagers.Subjects and methods: Healthy teenagers from the VITADOS study unde...

Objectives: Osteocytes play a major role in bone metabolism as mechanosensors, key regulators of osteoblast and osteoclast activity and of the mineral homeostasis. Therefore the assessment of osteocytes characteristics is important to understand bone pathology. We propose to study indirectly the osteocytes by performing quantitative backscattered electron imaging to quantify the sectioned osteocyte lacunae density and size in 2D on bone samples.Methods: ...