Bone Abstracts

Fibrous dysplasia of bone (FD) is a crippling skeletal disease caused by activating mutations (R201C, R201H) of the Gsα gene. We recently generated GsαR201C transgenic mice that develop a FD skeletal phenotype. The analyses of these mice demonstrated that increased bone resorption is one of the main morbidity factors in FD and that RANKL is the major molecular mediator of osteolysis at affected skeletal sites.Ob...

Vertebral fractures are one of the most common and disabling manifestation in osteoporosis. The relationship between bone mass and muscle strength has already been shown in the literature, but only a few studies argues the relationship between BMD and erector spinae muscles. Simple biomechanical considerations suggest that the loss of trunk muscle mass may contribute in vertebral fractures. In the literature, the Soerensen and isokinetic tests are often reported for t...

Metastasis to bone is the leading cause of death for breast carcinoma, and much focus in the biology and therapy relays on epigenetic alterations. Since DNA-methyltransferase blockade counteracts tumour growth, we utilized 5-aza-2′-deoxycytidine (dAza) to clarify whether molecular events undergoing epigenetic control were critical for bone metastatization. Here, we studied Secreted-Protein Acidic and Rich in Cysteine (SPARC), matricellular glycoprotein associated with bo...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Introduction: Vertebroplasty (VP) and ballon kyphoplasty (BKP) are used in the treatment of the vertebral compression fractures (VCF), that usually result in a typical wedged deformation. It is still under debate which technique is the best, in terms of efficacy, costs, and safety, mainly about the risk of a adjacent new fractures. The aim of this study is to evaluate the biomechanical outcome of vertebroplasty and kyphoplasty by a computational comparative analysis with finit...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score –3.2) and femoral neck (T-score –2.4), was referred ...

Barrier membranes have been extensively used in dentistry to prevent soft tissue down-growth into the bone defects and to promote alveolar ridge augmentation. Previous studies of our group showed that the Poly(vinylidene-trifluoroethylene)/barium titanate composite (PVDF) enhances both the in vitro osteoblastic differentiation and the in vivo bone repair compared with a commercially available polytetrafluoroethylene (PTFE) membrane. As bone formation may be regulated ...

Background: Prader Willi syndrome (PWS) is a genetic disorder characterized by severe hypotonia in infancy, hypogonadism, dysmorphic features, early onset obesity and mild mental retardation.Although hip dysplasia occurs in 10–20% in patients with PWS, hip dislocation requiring surgery is seen rarely. To our knowledge, surgical treatment of hip dislocation in PWS has not been reported before.We present a case with PWS and hip ...

Background: A 3.2 year old boy was reviewed following 2 low trauma femoral fractures. He had been born at 31 weeks gestation, his mother having been diagnosed with metastatic breast cancer at 12 weeks gestation. She received chemotherapy at 20 weeks gestation and was given intravenous zoledronic acid (ZA) during the second trimester for hypercalcaemia.Presenting problem: At 2.7 years, he fell on a tarmacked surface sustaining a diaphyseal fracture of his...