Bone Abstracts

Objectives: Impairment of bone mass accrual and alterations of bone metabolism is a common finding in HIV-infected youths. In particular, previous studies demonstrated higher bone formation and bone resorption rates in HIV-infected children and adolescents. Wnt ligands promote bone formation by stimulating osteoblast differentiation and their survival. Recent studies demonstrated that sclerostin (Scl) and dickkopf factor 1 (DKK-1), Wnt antagonists, are important negative regul...

Objective: Sclerostin, product of the SOST gene, is an important determinant of bone formation and resorption. Rett patients, frequently present marked decreases in bone mineral density (BMD) beyond that expected from disuse atrophy. However, sclerostin has not been yet examined in Rett subjects as a potential mediator of impaired bone metabolism.Methods: This study aimed to investigate whether there is any associations between sclerostin levels, body co...

Acute phase reaction (APR) is the most frequent side effect following i.v. nitrogen-containing bisphosphonates (N-BPs) infusion. A recent observation in osteoporotic women treated with N-BPs evidenced a negative association between 25(OH)D levels and APR, likely due to the immuno-modulatory effects of vitamin D on γδTcells. However, this association remains to be demonstrated in patients with Paget’s disease of bone (PDB). Moreover whether vitamin D supplementat...

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: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

: Glucocorticoid-induced osteoporosis (GIO) is the most frequent secondary osteoporosis in patients undergoing steroid therapy.Recently we demonstrated that the inhibition of bone formation in GIO is occurring in part via the suppression of autocrine cytokines by the glucocorticoid receptor (GR) monomer in osteoblasts (Cell Metab 11, 517–531). Since emerging evidences indicate that microRNAs (miRNAs) play a critical role in the differentiat...

Background: Zoledronic acid (ZA) is associated with a transient post-infusional acute phase reaction (APR) due to the activation of γδTCR lymphocytes (γδTcells).Aims: To investigate if APR correlates with γδTcell percentage or cytokine polarization, or with 25-OH vitamin D levels; to identify a 25-OH vitamin D level associated with a lower risk of APR.Methods: Sera for ELISA test (IFNγ, IL17, and ...

Background: In pediatric osteogenesis imperfecta (OI), bisphosphonates (BPs) are considered the best treatment option to increase bone density and reduce fracture rate. Pamidronate (PAM) is regarded as standard care for moderate to severe OI. The most recent added BP is intravenous zoledronate (ZOL). ZOL has practical advances over PAM, however research on its efficacy and safety is scarce.Objectives: To investigate the efficacy and safety of treatment w...

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bone’s structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...