Bone Abstracts

In recent years, the important role in bone remodelling Wnt/β-catenin pathway is highlighted. Key receptor of this pathway is LDL receptor-related protein 5 (LRP5). It was demonstrated in adults that polymorphism in LRP5 gene was associated with bone mineral density and fracture risk. So far no such studies were conducted in children.The aim of the study was the analysis of LRP5 and COL1A1 genes in a patient with r...

Introduction: Osteogenesis imperfecta (OI) is a genetically determined bone dysplasia characterised predominantlyby recurrent fractures, reduced bone mineral density and some clinical features connected with colagenopathy. However, not all patients have exhibit all this signs, and in this situation diagnosis may be difficult.Aim: The aim of this work is to compare clinical symptoms of various types of osteogenesis imperfecta and to present diagnostic pro...

Duchenne muscular dystrophy (DMD) is associated with an increased risk of bone fragility due to the adverse effects of prolonged glucocorticoid therapy and progressive muscle weakness on bone strength. The resultant osteoporosis, which predisposes to fragility fractures of both long bones and vertebrae, is a major cause for concern. We studied 70 boys with DMD mean age 10.74±3.83 years. Bone mineral density was measured by DXA scan on lumbar spine and total body and conte...

A clinical and densitometric study was performed in the group of 62 adults with cerebral palsy (CP) under institutionalized care in the district of Przemyśl (Southern Poland), 12 of whom had the history of 15 radiologically confirmed non-phalangeal limb fractures. The study assessed correlation between the prevalence of fractures and age, body mass, locomotor abilities determined by Gross Motor Function Classification System (GMFCS), presence of epilepsy, antiepileptic dr...

Diabetes leads to development of osteoporosis. Experimental type 1 diabetes may be induced by a single dose of streptozotocin (STZ), and nicotinamide (NA) administered 15 min before STZ dose-dependently protects against the STZ action. Coffee drinking, apart of its health benefits, is taken into consideration as an osteoporosis risk factor. Data from human and experimental studies on coffee and caffeine effects on the skeletal system are inconsistent. For example, although oth...

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...