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...

Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by recurrent fractures and reduced bone mineral density. The severity of its symptoms varied from very mild to severe, which strongly affect the quality of life and cause premature death.The aim of the study is to compare the clinical symptoms of different types of osteogenesis imperfecta and to present diagnostic difficulties based on the analysis of our patients.</p...

Introduction: The importance of vitamin D in metabolism, bone growth and functioning of many organs and systems (the plejotropic effect) has been broadly discussed in the literature recently. The systemic deficiency of vitamin D connected with the lower sunlight exposure and the decreased diet supply favours to bone mineral density lowering and the bone structure disorganization. More and more often the common vitamin deficiency in children and adolescents has been observed. I...