Bone Abstracts

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...

Background: Bone involvement in patients with β-thalassemia is well known, but only few studies have analyzed bone microarchitecture and the prevalence of intervertebral disc calcifications (IDCs) in these patients. The aim of our study was to evaluate the bone quality in a group of patients with β-thalassemia in terms of geometry and microarchitecture properties; moreover, we evaluated the presence of IDCs in these patients.Material and method...

Objectives: To evaluate the frequency of low serum alkaline phosphatase (ALP) activities in patients referred to a tertiary children’s hospital. Another item was to explore potentially missed diagnoses and to evaluate the role of laboratory screening for hypophosphatasia.Study design: A retrospective evaluation over an 6-year period (between December 2010 and December 2016) carried out to identify children and adolescents, referred to Anna Meyer Chi...

Biographical DetailsDr A Linglart is a Paediatric Endocrinologist working at the Hôpital St Vincent de Paul in Parism, France. She has a special interest in rare diseases....

Changes in the ability of self-renewal and differentiation of mesenchymal stem cells may be affected by osteoporosis. The aim of this investigation was to compare the transcriptional profile of mRNAs and miRNAs of osteoblastic cells from calvaria and bone marrow of female rats after ovariectomy. Following the approval by ethics committee, 18 wistar rats were divided into control (sham) and ovariectomized groups. After 150 days, both groups were sacrificed to collect the femurs...

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Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...

A mixture of Galacto-oligosaccharides (GOS) and Fructooligosaccharides (FOS) are added to commercial infant formula to promote an intestinal microbiota similar to that prevalent in breast-fed infants to improve Ca bioavailability and general health, but their mechanisms are under debate.Our objective was to evaluate the beneficial effects of the mixture of GOS/FOS added to infant formulae, on the absorption of Ca, Mg and P of a low Ca diet. Changes in in...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary disorder characterized by isolate renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25(OH)2D3 levels. ADHR is caused by mutations in FGF23 protein that actively regulates phosphate homeostasis. In contrast to X-linked dominant hypophosphatemic rickets, ADHR shows incomplete penetrance, variable age at onset, and in rare cases resolution of the phosphate-wasting defect...

The effects of prolactin on bone metabolism have been the subjects of several studies. It is believed that prolactin acts directly influencing the synthesis of bone matrix by stimulating the osteoblastic activity, since receptors for this hormone have been identified in osteoblasts and human mesenchymal stem cells (MSCs). However, no study on the effects of prolactin on the osteogenic differentiation of MSCs was found in the literature. The objective of this study was to verif...