Bone Abstracts

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic diseases, GSDs have an overall prevalence of at least 1/4000 child. Qualitative defects in cartilage struc...

Biographical DetailsMichael D Briggs obtained his PhD at the MRC Clinical Research Centre, Harrow, studying the genetic basis of osteogenesis imperfecta. He undertook postdoctoral work at UCLA identifying the genetic basis of chondrodysplasias. In 1996 Mike moved to Manchester as an AR-UK Fellow to continue studying disease mechanisms in chondrodysplasia. In 2004 he was awarded a Wellcome...

Objectives: Young male jockeys undertake calorie restriction and high volumes of physical activity during periods of musculoskeletal growth and development. Previous research shows that jockeys have compromised bone health1–4 and display disordered eating5–7. Restricted intakes of calcium and vitamin D, together with excessive amounts of exercise, increase the risk of osteoporosis in males8. The aim of this study was to establish whet...

Background: A 3 month-old boy was born at term, to non-consanguineous parents by spontaneous vaginal delivery, in good condition, weighing 4.19 kg. Newborn examination, including eyes, was normal prior to discharge. He has two older brothers in good health.Presenting problem: He was admitted at 7 days of life with focal seizures and hypocalcaemia (1.5 mmol/l), hypomagnesaemia (0.6 mmol/l), hyperphosphataemia (3.7 mmol/l) and inappropriately low parathyro...

In sharp contrast to the great interest in morphology of the proximal femur in aged individuals, there is a paucity of studies in children. To date, a comprehensive quantitative analysis of trabecular micro-architecture in various biomechanically relevant subregions of the immature proximal femur has been lacking. The aim of this study was to characterize postnatal development of trabecular bone in various regions of the human proximal femur. The study sample was comprised of ...

Habitual physical activities of past populations are frequently reconstructed based on musculoskeletal markers (MSM) in human skeletal remains, i.e. particular morphological features of muscles attachment sites. However, the relationship between muscular activity and bone microstructure at the site of muscle attachments is unexplored. Therefore, this study aimed at analyzing bone microstructural characteristics of the muscles attachments sites and correlating these features wi...

Success in periodontal regeneration through guided tissue regeneration relies on the healing capacity of the host tissue. Platelet preparations are mitogenic and stimulate regeneration through high growth factor levels. Here we assessed collagen barrier membranes (CBM) as carriers for the secretome of activated platelets. We evaluated cell-attachment, the release of the secretome, and cell proliferation.Secretome of washed platelets (washed PSEC) and unw...

Bone morphogenetic protein 6 (BMP6) is a member of TGF-β superfamily with a high potential to induce new bone and cartilage. Here we demonstrate that BMP6 compared to the BMP7 paralog has unique biological properties. Previously, we showed that BMP6 is more active at lower amounts then BMP7 because of increased resistance to noggin due to lysine in position 60. Next, we discovered that BMP6 binds to blood coagulum components, which when modified with calcium salt and a fi...

BMP6 is a member of the TGFβ superfamily with a high potential to induce new bone formation. Recently, we discovered that blood coagulum from the patient’s own blood (WBCD) modified with calcium salts serves as an appropriate autologous carrier for BMPs (OSTEOGROW device). Preclinical experiments indicate that BMP6 is efficacious when used in a significantly lower amounts than BMP2 and BMP7. Besides testing its osteogenic activity, we also tested the influence of the...

Hypophosphatasia is a recessively inherited disorder with a wide phenotypic manifestation ranging from lethality in neonates to asymptomatic in adults. The severity of the phenotype is largely determined by the nature of the ALPL mutations. We describe a previously asymptomatic adult whose phenotype dramatically changed after he developed renal failure. A 50-year-old man was diagnosed with IgA nephropathy. At age 52 (eGFR 50 ml/min) he suffered his first metatarsal fr...