Bone Abstracts

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...

Postmenopausal women with forearm fracture have higher cortical porosity and lower trabecular density perhaps due to excessive age-related bone loss1. Remodelling becomes unbalanced and rapid only after ~45 years of age. We therefore proposed that bone fragility in premenopausal women with a forearm fracture originates during growth. At metaphyses, trabeculae emerging from the periphery of the growth plate form cortex by ‘corticalization’)2. We ...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Background: Juvenile Paget’s disease (JPD) is a rare autosomal-recessive condition. The disease is typically diagnosed in infants or young children and characterized by a generalized increased in bone turnover, bone pain, skeletal deformity and increased risk of pathological fractures. In our knowledge, inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause JPD, yet. There are no randomized controlled trials which to offer the optimal form of t...

Fibrodysplasia ossificans progressiva (FOP) or miyositis ossificans progressiva is a hereditary mesodermal tissue characterized by progressive ossification of striated muscle, tendon, ligament, fasciae, aponeurose and occasionally skin. A single common heterozygous mutation has been identified in the cytoplasmic domain of activin receptor IA/activin-like kinase 2 (ACVR1/ALK2). FOP is very rare with a worldwide prevalence of ~1 case in 2 million individuals. Diagnosis is based ...

Background: This study was designed to investigate the process of bone formation caused by implantation of octacalcium phosphate (OCP) in rat tibiae.Methods: We used 25 young male Sprague–Dawley rats. A full thickness standardized trephine defect, 3-mm in diameter, was surgically created on the superior end of right and left tibia. Amount of 6-μg synthetic octacalcium phosphate was implanted into a bony defect on the right tibia as an experimen...

The childhood and adolescent years represent a critical period for bone acquisition. Extrinsic factors such as diet and physical activity represent modifiable variables that may have a significant impact on a young adult’s peak bone mass. This lecture will consider dietary supplementation with specific nutrients as a strategy to augment bone density during the childhood and teenage years. An overview will be provided, as well as data reviewed from supplementation trials i...

The close relationship between muscle and bone has long been recognized especially during development where one tissue does not develop in the absence of the other. The mechanical interactions between the two tissues have dominated research under the assumption that the major interaction between the two tissues was the loading/unloading of bone by muscle. Though clear that loading of bone by muscle is necessary to maintain healthy bone, the concept that bone could have positiv...

The cathepsin K inhibitor odanacatib (ODN) is a bone formation-sparing inhibitor of osteoclastic resorption activity. This drug is currently under development for the treatment of postmenopausal osteoporosis. To support the bone safety profile of ODN, we evaluated the effects of ODN on trabecular bone hard tissue properties in the estrogen-deficient model of the ovariectomized (OVX) rhesus monkeys. Animals (n=16/group, age 11–22 years) were treated immediately af...

Transforming growth factor (TGF)-β1 is the most abundant growth factor in human bone. Several polymorphisms have been described in the TGF-β1 gene (TGFB1). We have previously shown that individuals with the CC genotype of the T29C polymorphism have higher bone mass at the femoral neck. The T29C polymorphism causes a change from leucine to proline at codon 10, which is located in the hydrophobic α-helical part of the signal peptide....