Bone Abstracts

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...

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...

Introduction: We recently showed that patients with primary Sjögren Syndrome (pSS) have significantly higher bone mineral density (BMD) in the lumbar spine and femoral neck compared with healthy controls. The majority of those patients (69%) were using hydroxychloroquine (HCQ), which may have favourable effects on BMD.Aim: To evaluate whether HCQ modulates human bone cells in vitro.Methods: Osteoblasts were differenti...

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 ...

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signalling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. However, more recently the direct effect of LRP5 on osteoblasts and bone formation has...

Introduction: Vitamin D deficiency has been associated with impaired physical functioning and several chronic diseases and might thereby affect quality of life and self-rated health. The aim of this study was to assess relationships of serum 25-hydroxyvitamin D (25(OH)D) with quality of life and self-rated health, and to examine whether physical performance and number of chronic diseases mediate these relationships.Methods: Data were obtained from the LA...

Prostate cancer (PCa) is the most common cancer in males. When patients develop metastasis, no curative therapy is available. To find new therapeutic options, it is crucial to understand how PCa cells induce metastasis. Recently, it was shown that PCa cells secrete small extracellular vesicles (EVs) that can be found in the circulation and in bones. Uptake of EVs by other cells may change their behaviour. We previously identified three miRNAs that were uniquely upregulated in ...

Background and Objectives: Rheumatoid arthritis (RA) is a chronic disease characterized by severe bone destruction which has been associated with altered lipid metabolism. Apolipoprotein E (Apo E) is a lipoprotein mainly produced by macrophages. ApoE has been described as crucial in lipid metabolism but also as an important anti-inflammatory mediator regulating innate immunity and bone turnover. In the present study we investigated the role of Apo E in bone destruction during ...

Introduction: Cranialfacial fibrous dysplasia (CFD) presents with pain, facial asymmetry and/or neurological complications. It has been suggested that patients with CFD respond favourably to treatment with bisphosphonates, by a decrease in pain and arrest of progression. Therefore, we performed a retrospective study of 56 patients with CFD in our center.Methods: We assessed clinical characteristics and disease course. Furthermore, clinical and biochemica...

Histomorphometric analysis is an essential technique to measure bone formation and resorption parameters. Here we present three novel open source image analysis packages that allow the rapid semi-automated analysis of histomorphometric bone resorption, osteoid, and calcein double labelling parameters.Mice were injected with calcein 5 and 2 days before killing. Tibia and vertebrae were fixed in formalin, embedded in methylmethacrylate and the blocks secti...