Bone Abstracts

Background: The Ketogenic Diet Treatment (KDT) is a well-established intervention for intractable childhood epilepsy and the first choice treatment for Gluccose-1-transporter-deficiency-syndrome and Pyruvate-dehydrogenase-complex deficiency. During long-term follow up of children treated with KDT an increased incidence of bone fractures has been found. However, the exact contribution of KDT to a decreased BMD remains unclear. Prophylactic supplementation with calcium and vitam...

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Bisphosphonates (BP) are used as anti-resorptive drugs in benign (osteoporosis) and malignant (myeloma, bone metastasis) bone diseases. Their high affinity for biominerals allows prolonged storage within bone. However information about molecular impact of BP on bone quality are missing. Better understanding of BP properties to optimize their clinical use is needed. The aim of this study was thus to investigate human bone physicochemical changes upon BP uptake.<p class="abs...

Low levels of 25-hydroxyvitamin D have been documented among inhabitants of the wider Middle East and North African countries. Sunlight has long been recognized as a major provider of vitamin D. In this study we aimed to determine the optimum time for sun exposure in the Central region of Riyadh, Saudi Arabia. Ampoules containing 7-dehydrocholesterol in ethanol were exposed to sunlight every hour starting from sunrise until sunset in July and December. Our results demonstrated...

Vascular calcification has a marked impact on arterial heterogeneity and plaque stability. Based on a cohort of 116 patients (carotid and femoral endarterectomies), the aim of the present study was to determine the influence of the bone-like vascular calcification and of osteoprotegerin (OPG) on plaque stability.Seventy-three carotid and 43 femoral plaques along with plasma were harvested and analyzed in a single center study. The presence of osteoid met...

Objectives: 1) To determine the prevalence of Vitamin D deficiency in children with newly diagnosed cancer; 2) Compare Vitamin D levels of children with and without cancer; 3) Evaluate race and sex differences in Vitamin D levels.Methods: IRB approved retrospective review of medical records from our pediatric tertiary care center from 2011–2018. Inclusion criteria were serum 25-OH D within 3 months of oncology diagnosis and other non-oncology diagno...

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...

Skeletal diseases are a large and diverse group of rare monogenic phenotypes and there are more than 450 unique and well-characterised chondrodysplasia phenotypes that range in severity from relatively mild to severe and lethal forms. Studying these genetically tractable chondrodysplasia phenotypes provides insight into disease pathways that may be relevant to the more common and polygenic forms of OA.Pseudoachondroplasia (PSACH) and multiple epiphyseal ...

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Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...