Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...

The childhood is an important period for bone mass acquisition, and this tissue may be influenced by the nutritional status. However, the relation between the nutritional status and the bone parameters of quantitative ultrasound (QUS) remains unclear. The aim of this study was to verify the influence of nutritional status on bone mass assessed by QUS in male children from 7 to 10 years old. The sample consisted of 461 Brazilians pre-pubertal schoolchildren (8.30±1.13 year...

Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been fou...

Background: Alkaline phosphatase (ALP) has an essential role in bone mineralization. ALP is attached to the surface of matrix vesicles (MVs) in which hydroxyapatite crystals are initially formed. Formation of a tentative collagen–ALP complex may be an early step in the calcification process. The present study was designed to investigate the binding properties of different ALPs to collagen present in bone and cartilage, i.e. types 1 and 2 collagen.Me...

Among activation of apoptotic machinery, Fas (CD95)/FasL (CD178) were suggested to act in cell proliferation and differentiation. Expression of Fas and FasL was reported during tooth and bone formation. The examination of gld mice showed increased total body bone mass and number of osteoblasts in long bones. However, Fas and FasL functions in osteogenesis remain controversial. As most of studies dealing with Fas/FasL system in bone formation were performed in endochondral mode...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Background: An inadequate intake of nutrients, low levels of physical activity, and chronic diseases contribute to reduce muscle mass and physical performance in elderly. WHO reported that number of individuals aged ≥60 years will triple in 2050, with the sub-population aged >85 years that will grow faster than the others. Market of nutraceuticals and dietary supplements is growing in Italy, in particular aimed to improve health in elderly. Objective of this scoping ...

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

Objectives: To identify and determine the extent to which effective/ineffective steps in the implementation of the Kaiser Permanente Southern California Healthy Bones Model of Care were perceived by physician champions and Healthy Bones Care Managers.Methods: The subjects in the study included 20 Physician Champions and 35 Healthy Bones Care Managers employed in the Kaiser Permanente Southern California Healthy Bones Model of Care.25 have been employed i...

Background: Congenital hypoparathyroidism in children is a condition with diverse genetic etiologies. Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by hypoparathyroidism, short stature, cortical thickening and medullary stenosis of the tubular bone and dysmorphic features including micrognathia, prominent forehead and eye abnormalities. The autosomal dominant form of KCS [KCS type 2(KCS2)] is differenced from autosomal recessive form of KCS [KCS type 1 (...