Bone Abstracts

We previously evidenced a reduced response to i.v. pamidronate in Q15STM1 mutation carriers (Q15STM1+) with Paget’s disease of bone (PDB). In order to confirm and extend this observation, we investigated the effect of Q15STM1 mutation and polymorphisms in three genes associated with PDB (TNFRSF11A; OPTN; TNFRSF11B) on the response to bisphosphonates. First, a retrospective study was performed in 335 patients treated wi...

Objectives: Vitamin D deficiency is of current interest especially in high risk patients for reduced bone mineral density as in pediatric hematologic oncologic patients.Methods: During a 4 year period 194 pediatric hematologic oncologic patients were screened for serological vitamin D deficiency (defined as 25 (OH)D levels <30 ng/ml and accordingly <75 nmol/l). 61 patients were in the prospective group 1 defined as screening at time of diagnosis,...

YB-1 (Y-box binding protein 1) is a multifunctional cold-shock protein that has been implicated in all hallmarks of cancer. Elevated YB-1 protein levels were correlated with poor prognosis in several types of cancers, including breast cancer (BC). In BC, high YB-1 expression is a marker of decreased overall survival (OS) and distant metastasis-free survival across all subtypes. YB-1 is also secreted by different cell types and may act as an extracellular mitogen. Therefore, ou...

see P194....

Conventional Giant Cell Tumor of Bone (GCT) is an aggressive bone tumor characterized by malignant mesenchymal stromal cells, responsible for its unusually high population of multinucleated osteoclast-like giant cells. GCT could arise in bones affected by Paget’s disease of bone (GCT/PDB) with a different clinical profile regarding the age-onset of the neoplasm (30 years vs 50 years) and the skeletal localization (appendicular skeleton vs cranio-facial bones), let hyphote...

Neuropeptide Y Y1 receptor (Y1R) signalling has been shown to play a key role in bone homeostasis, emerging as a novel therapeutic target in bone diseases. Y1R knockout mice (Y1−/−) display a high-bone mass phenotype that has been mainly attributed to increased osteoblast activity. Nevertheless, the Y1R regulatory role on osteoclastogenesis and matrix resorption remains largely unknown. To clarify th...

Since their initial discovery, microRNAs (miRNAs) have emerged as critical post-transcriptional regulators of gene expression that are able to modulate bone remodeling. Nonetheless, despite the peculiar and aggressive phenotype of pagetic osteoclasts and the associated increase in osteoblast activity, whether deregulation of miRNAs is involved in Paget’s disease of bone (PDB) remains unknown. Here, we performed a serum miRNA expression profile (Taqman Human MicroRNA Array...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder due to deficiency of or resistance to intact fibroblast growth factor 23 (FGF23). This leads to hyperphosphatemia, increased renal reabsorption of phosphorus (TRP), and elevated or inappropriately normal 1,25-dihydroxyvitamin D (1,25D). Affected individuals may develop ectopic calcifications and/or diaphyseal hyperostosis. Mutations ...

Background: Current extension in the usage of growth hormone therapy (GHT) has increased the prevalence of bone complications. Legg Calvé Perthes disease (LCPD) is characterized by idiopathic avascular necrosis of the proximal femoral epiphysis. More frequently in boys between 4 and 8 years, LCPD is of unknown ethology. An increased incidence has been stated in case of GH deficiency. There is increasing data that children with LCPD may have a more widespread skeletal diso...

The identification of markers indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: Identify key cranio-cervical junction neuroradiological features for the surgical choice and for the decompression outcome.Methods: Out of 191 ACH patients, we selected 24 patients before 4 years of age, who performed a first brain MRI and/or CT. Patients were divided into 2 groups: surgically treated ...