Bone Abstracts

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

Ancient Egyptians were well known for the art of embalming, performed in the belief that preservation of the body was essential for survival in the afterlife. During the mummification process, internal organs were removed and some of them (lungs, stomach, liver, and intestines) washed, dehydrated with natron, perfumed, and stored in so-called canopic jars, buried with the mummy. Each jar had established contents and its own protective deity. To date, a limited number of studie...

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...

Introduction: The first clinical applications of FE-strength estimates to classify osteoporotic fractures showed inhomogeneous results. We developed a FE model that correlated well with femur strength in-vitro (R2=0.9, 14 femurs). This work aims to verify if our model can classify osteoporotic fractures in three case-control studies: a retrospective and a prospective study on proximal femur fracture, and a retrospective study on prevalent ...

Introduction: Although systemic lupus erythematosus (SLE) has traditionally been considered a disease of women, men may also be afected. Male osteoporosis is increasingly recognised. Several studies have reported that mean bone mineral density is significantly reduced in SLE women patients and most of them have low levels of vitamin D. The aim of our study is to analize this situation in men.Objectives: Determine 25-hydroxyvitamin-D (25OHD) serum concent...

Experimental studies suggested that both, oxidative stress and the Wnt pathway, are important factors in the regulation of bone remodeling. Thus, low antioxidant levels and elevated markers of Wnt pathway inhibitors (sclerostin) levels are associated with a reduced bone mineral density and increased risk of osteoporotic fracture. Whether oxidative stress and the Wnt pathway are related to fracture risk is poorly understood.M&M: Cross-sectional study ...

Introduction: Type 2 diabetes mellitus (T2DM) is a risk factor for the development of fractures. Several studies have shown an inverse relationship between osteoblastogenesis and adipogenesis through a competition model between these processes.PPARγ acts as regulator of adipogenesis and its increased expression is associated to decreased osteoblastogenesis. The treatment of insulin resistance with glitazones, one of the ligands of PPARγ, reduce...

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...