Bone Abstracts

McCune-Albright-Syndrome (MAS) is a rare multisystem disorder presenting with polyostotic fibrous dysplasia accompanied by a list of extraskeletal features including café-aulait spots and various endocrine hyperfunctioning. There is no effective treatment for FD in MAS nowadays. Patients with MAS (n=60, 49 girls(G) and 11 boys (B) have been diagnosed and followed up during 20 years in the Institute of Pediatric Endocrinology. First clinical manifestations were pe...

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...

Introduction: The prospective, single-arm, open-label ZOTECT study was designed to assess the effect of zoledronic acid (ZOL) on bone-marker levels and potential correlations with disease outcomes in bisphosphonate-naive patients with bone metastases.Methods: Patients with bone metastases from prostate cancer (PC; n=301) or breast cancer (BC; n=99) who have not received bisphosphonates for ≥6 months were enrolled at 98 sites in Ge...

Introduction: Normal mechanical loading potently induces bone formation via effects on osteocytes. Current investigations of mechanical loading of bone do not reflect the interactions of the cells within it, mostly focusing on mechanical loading of osteoblasts in monolayers. Existing 3D models do not elucidate the osteoblast-osteocyte interactions that regulate mechanically-induced bone formation. We developed a novel in vitro 3D co-culture model of bone1 t...

Spinal cord injury (SCI) has been associated with a marked increase in bone loss. This study analysed the effect of Wnt signalling antagonists (sclerostin and DKK-1) and their relationship with bone turnover markers and BMD evolution in patients with a recent SCI.Methods: Patients with a recent complete motor SCI (AIS A or B); (<6 months) were prospectively included. Bone turnover markers (bone formation: P1NP, bone AP; bone resorption: sCTx), Wnt an...

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

Background: Hypophosphatasia (HPP) is a heterogeneous rare, inherited disorder of bone and mineral metabolism caused by different mutations in the ALPL gene encoding the isoenzyme, tissue-nonspecific alkaline phosphatase (TNAP). Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease. TNAP, a ubiquitous enzyme, is mostly known for its role in bone mineralization. TNAP deficiency, however, may als...

Juvenile Paget’s disease (JPD) is an extremely rare, yet painful and debilitating bone disease with onset occurring during early childhood. JPD can be caused by loss of function of osteoprotegerin, resulting in subsequent osteoclast stimulation via the activated receptor activator of nuclear factor-kappa B (RANK) pathway. Increased bone turnover and a lack of bone modelling lead to severe deformities, frequent fractures, short stature and loss of hearing.<p class="abs...

Objectives: By prospectively evaluating a cohort of girls we aim to identify population patterns linking adipokines and bone turnover during early and late adolescence and to assess the associations of those patterns with forearm bone mineral density (BMD).Methods: The study was developed within a population-based cohort of urban adolescents born in 1990 and assembled in public and private schools of Porto, Portugal (EPITeen). We analysed prospective dat...

Objectives: To determine the prevalence and intensity of D-deficiency in children and adolescents in the metropolitan area with subtotal deficiency of ultraviolet B (55° N).Methods: From May 2008 to May 2010 in a random sample of 163 Muscovites 0–18 years old (9.9±0.4; girls/boys, 81/82) serum 25-hydroxyvitamin D content was determined by chemiluminescent analysis (DiaSorin, Inc., USA; n=56 and Roche Diagnostics; n=107). ...