Bone Abstracts

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

C5aR is a membrane-associated receptor for C5a, a potent immune mediator generated after complement activation. C5aR expressed in tumor infiltrating immune cells creates a favorable microenvironment for tumor progression. However, the expression of C5aR by cancer cells and its contribution to their malignant phenotype is poorly understood. Immunohistochemical analysis revealed that high levels of C5aR in human lung tumors were associated with poor survival (P=0.005) a...

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Background: Vitamin D plays an important role in calcium and phosphate homeostasis. Circulating 25 hydroxyvitamin D [25(OH)D] is metabolised into its biologically active form 1,25-dihydroxyvitamin D [1,25-d(OH)D] by the actions of 1α hydroxylase, and into inactive 2metabolite 24,25-dihydroxyvitamin D [24,25-d(OH)D] by 24-hydroxylase. Recent studies suggest the production of 1,25-d(OH)D) from 25(OH)D is 24,25-d(OH)D dependent. Genetic mutations of CYP24A1 gene resulting in...

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...

Introduction: Mitochondrial dysfunction is associated with several clinical outcomes including diabetes and myopathy and is implicated in the human aging process. We previously showed that the mitochondrial DNA point mutation mtDNA3243A>G is associated with lower BMD and altered bone structure. The aim of this study was to assess bone turnover markers in individuals with the mutation and controls.Methods: We recruited 45 patients (29 female, 16 male)...

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...

Vitamin D deficiency in pregnancy is common, and is linked to increased risk of adverse outcomes including preterm birth, preeclampsia, infection, gestational diabetes and asthma. Vitamin D possesses well-recognized immunomodulatory functions, and programming of the immune system during foetal development can influence asthma-related risk factors and health outcomes in later life. We hypothesized that influencing vitamin D status during pregnancy would impact the immune profil...

Osteosarcoma is the most common primary malignant bone tumor, characterized by osteoid production and/or osteolytic lesions of bone. A lack of response to chemotherapeutic treatments points out the importance of exploring new therapeutic ways. Imatinib Mesylate (Glivec, Novartis Pharma), a tyrosine kinase inhibitor, has been originally developed for the treatment of chronic myeloid leukemia. Several studies revealed that Imatinib Mesylate inhibits osteoclast differentiation th...