Bone Abstracts

Background: Treatment with multipotent mesenchymal stromal cells (MSC) has the potential to ameliorate mesodermal disorders.Objective: To treat severe osteogenesis imperfecta (OI) with fetal MSC.Methods: Ten years ago, we treated a fetus with OI type III (COL1A2: c.3008G>A, p.Gly1003Asp) in utero with fetal HLA-mismatched MSC. The procedure was uncomplicated. At the age of 4 months i.v. pamidronete treatment was starte...

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

Abstract: Osteogenesis imperfecta, also known as ‘brittle bone disease’, is a heterogeneous disorder of connective tissue generally caused by dominant mutations in the genes COL1A1 and COL1A2, encoding the α1 and α2 chains of type I (pro)collagen. Symptomatic patients are usually prescribed bisphosphonates, but this treatment is neither curative nor sufficient. A promising field is gene silencing through RNA interference. In this study, small interfering RN...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...

Bone damage is one of the main unfavourable health effects of chronic exposure to cadmium (Cd). This heavy metal stimulates osteoclastic bone resorption and inhibits osteoblastic bone formation resulting in decreased bone mineralization and as a result weakening of the bone biomechanical properties. Recently, using a rat model of chronic human exposure to cadmium, we have revealed that even low exposure to this metal may increase bone vulnerability to fracture. Taking into acc...

β-tricalcium phosphate (β-TCP) biomaterials have been approved for the repair of osseous defects. However, in large defects, the substitution of biomaterial by authentic bone is inadequate to provide sufficient long-term mechanical stability. We aimed to develop composites of β-TCP ceramics and receptor activator of nuclear factor κ-B ligand (RANKL) to enhance the formation of osteoclasts thereby stimulating material resorption. RANKL was immobilized on &#9...

The Runt-domain transcription factors Runx2 and Runx3 are known to drive chondrocyte maturation from prehypertrophic to the terminal stage. The RUNX family proteins form dimers with CBFb, and bind to consensus sequences of 5′-PuACCPuCa-3′ upstream of target genes to activate or repress transcription.To address the role of Runx3 transcription factor in zebrafish, we have isolated the different splice variants encoding distinct runx3 p...

Background: Recently, the prevalence of osteoporosis and sarcopenia in the elderly has dramatically increased. However the relationship between theses disease is not clear.Object: We aimed to determine the independent relations of muscle mass to osteoporosis (femur neck) in relation to body weight, fat mass, and other confounders.Design: We analyzed body composition and BMD data of 570 males and 734 females who are older than 65 ye...

Background: Genetic disorders of mineral metabolism causing nephrolithiasis and bone abnormalities are uncommon and have a varied clinical spectrum. Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically presenting with severe rickets and hypophosphataemia. Milder forms can present with hypercalciuria and nephrolithiasis without bone disease. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes t...

Background: Children with special needs may be greater risk of vitamin D deficiency due to decreased mobility and outdoor play, concomitant medications that increase catabolism of vitamin D, reduced nutritional intake and low body weight. Gastrostomy-fed children receiving a nutritionally complete formula may still be at risk of vitamin D deficiency due to the above factors.Objective: The objective of this study is to assess the vitamin D status of speci...