Bone Abstracts

Many of our assumptions concerning oral implant osseointegration are extrapolated from experimental models studying skeletal tissue repair in long bones rather than in oral bones. This discrepancy between clinical practice and experimental research hampers our understanding on how alveolar bone forms or resorbs around implants and how osseointegration of oral implants can be improved. To overcome this disconnect, we have developed a mouse model which mimics oral implant placem...

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...

Objectives: Osteogenesis Imperfecta (OI) is a hereditary disorder effecting approximately 1 in 20 000 births. Symptoms include; low bone mass, recurrent fractures, varying degrees of short stature and deformity. There is currently no disease specific quality of life (QoL) measure for children with OI. This study used a mixed methods approach to develop a QoL measure for the paediatric OI population. Patient reported outcome measure development is an iterative process, moving b...

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

Background: There is currently considerable clinical and academic interest in vitamin D in children and young people. This partly relates to recognition of a resurgence of symptomatic vitamin D deficiency with reports of children presenting with rickets or hypocalcaemic symptoms. An additional development has been the recognition that vitamin D may have a physiological extraskeletal role beyond its traditional function as a key regulator of calcium and bone metabolism.<p c...

Objectives: Type V osteogenesis imperfecta (OI) results in abnormal modelling of the ulna, dislocation of the radial head and interosseous membrane calcification (IOM). Individuals develop reduced functional ability as a consequence of reduced range of movement (ROM) including elbow flexion and/or supination, which may be intrinsic or secondary to the radiographic findings. We describe the evolution of radiographic and functional parameters in a cohort seen in our centre.<...

Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical Manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types. Sleep disorders are under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of ...

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

Successful long-term, cementless fixation of human shoulder components in osteoporotic (OP) and osteoarthritic (OA) patients poses major challenges. The possibility that enhanced osseointegration may rely on both the region of bone targeted and its relationship with the vasculature remains unexplored. We hypothesise that bone cells derived from subchondral (SC), cortical (C) and trabecular (Trb) bone regions exhibit differing osteogenic potential, which will be diminished in b...

Background: Cartilage matrix breakdown in osteoarthritis (OA) is due to mechanical stress and inflammation leading to increased metalloproteinases (MMPs) production. Currently, IL1β is thought to have a major role in this process. IL1β is synthesized as an inactive precursor, which is cleaved into the secreted active form. This maturation process mainly occurs in the inflammasome complex. Inflammasome is constituted by initiators (including NALP3) and adaptor molecul...