Bone Abstracts

Objectives: To assess the role of whole-body MRI in the diagnosis and management of chronic recurrent multifocal osteomyelitis (CRMO) is a benign and non-infective auto-inflammatory bone disorder characterised by multiple and recurrent inflammatory bone lesions. No universal diagnostic criteria exist.Methods: Retrospective review of CRMO cases diagnosed at this hospital between 2008 and 2014. Cases were identified from patient records and clinical inform...

Objectives: The main aim of the study is to describe a new method of quantitative, MRI-based assessment of inflammation in children with chronic recurrent multifocal osteomyelitis (CRMO).General hypothesis: The main hypothesis is that the bone marrow edema, as detected in CRMO with MRI, can be quantified to aid early diagnosis and help identify clinically silent lesions.Methods: We performed a retrospective analysis of static MRI s...

Background: 3 year old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica.Presenting problem: He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia at 0.26 (0.7–1.0) mmol/l, hypocalcaemia at 1.59 (2.2–2.6) mmol/l, hypokalaemia, hyponatremia and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urin...

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...

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...