Bone Abstracts

In this case report, we present a brother and sister with hereditary vitamin D resistant rickets (HVDRR). Both children presented at the age of 18 months with severe rickets and elevated serum levels of 1,25-(OH)2D3. They differ from each other in that the girl presented with hypophosphatemia instead of hypocalcemia. Besides, she developed alopecia earlier than the boy and needed more 1,25-(OH)2D3 supplementation. Interestingly, the ...

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...

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Objectives: Osteopenia is a complication of childhood cancer treatment but it is unknown to which extend this occurs in adult survivors, and which subgroups are at risk. We examined bone mineral density (BMD) and assed the relative importance of potential determinants of low BMD in very long-term adult survivors of childhood cancer.Methods: The single-center cohort study included 410 adult CCSs (median age at diagnosis: 6.6 years (range: 0–17 years)...

Like most organisms, we have developed an internal time keeping system that drives daily rhythms in metabolism, physiology and behavior, and allows us to optimally anticipate to the momentum of the day. At the basis of circadian timekeeping lies an intracellular molecular oscillator in which a set of clock genes cyclically regulate their own expression with an approximate (circa) 24-hour (dies) periodicity. The mammalian circadian system consists of a light-entrainable master ...

Introduction: Activated protein C (APC) plays an important role in the cutaneous healing of chronic wounds arising from orthopaedic surgery and has cytoprotective and anti-inflammatory properties which may also assist bone repair. The aim of this study was to examine whether APC could directly influence osteoblasts and increase bone formation in a rodent model.Methods: Proliferation of MG-63 osteoblast-like cells was quantified by MTT assay and direct co...

Osteoclast-poor autosomal recessive osteopetrosis is characterised by susceptibility to fracture despite high bone mineral density as a consequence of an absence of osteoclasts. One of the 12 receptor activator of NF-κB (RANK) mutations associated with this condition is a frameshift mutation encoding a protein that is truncated within the extracellular, N-terminal domain (R110Pfs). We investigated the effect of this mutation on osteoclast formation, receptor localisation ...

Introduction: Niemann–Pick disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. It is caused by mutations of genes which products are involved in the metabolism of sphingolipids. Their dysfunction causes sphingomyelin to accumulate in different organs which leads to progressive multisystemic disorder. Types A and B NPD are caused by mutations in sphingomyelin phosphodiesterase-1 gene with deficiency of acid sphingomyelinase (ASM). Types C and D NP...

Signaling pathways crucial in bone development, including Wnt, are also upregulated in breast cancer cells to promote tumor growth in the skeleton, a process known as osteomimicry. Thus, we hypothesized that bone metastatic tumor cells also aberrantly express osteogenic miRNAs to support osteomimetic properties. We have previously shown that miR-218 is highly expressed in osteoblasts and promotes osteogenic differentiation. Interestingly, expression analysis revealed a signifi...

Romosozumab is an investigational bone-forming agent that inhibits sclerostin. Recent data demonstrated that it stimulated bone formation, decreased bone resorption, and led to rapid and substantial increases in areal bone mineral density (BMD; McClung, J Bone Miner Res 27 (S1) S8–S9, 2012). In a Phase 1b, randomized, double-blind, placebo-controlled, multiple dose study, we studied the effects of romosozumab administered for 3 months and follow-...