Bone Abstracts

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In autosomal recessive osteopetrosis due to mutations of the TNFSF11 gene, deficiency of the pro-osteoclastogenic cytokine RANKL prevents osteoclast formation. RANKL is a membrane-bound protein cleaved into active soluble (s)RANKL by various enzymes, including metalloproteinase 14 (MMP14). We created a bio-device that released sRANKL and induced osteoclastogenesis in tnfsf11−/− mice. We tested various RANKL cell sources, and used mouse primary calvarial osteoblasts...

Osteoarthritis and osteoporosis are two elderly conditions characterized by two different pathophysiological mechanisms. In patients with chronic kidney disease (CKD), there is a metabolic impairment of the muscular-skeletal tissue. The aim of our study is to evaluate the biochemical and morphostructural alterations in different states of CKD in patients with osteoarthritis or hip fracture.We evaluated all patients undergoing hip replacement surgery from...

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...

Introduction: Recently reported high incidences of hip fractures emphasize the need of more effective methods for osteoporosis diagnosis, currently performed essentially by dual-energy X-ray absorptiometry (DXA) examinations of the proximal femur. However, high costs and radiation-related issues do not allow DXA employment for population mass screenings. Aim of this study is to carry out a preliminary clinical validation of a new ultrasound (US)-based method to perform femoral...

Introduction: Currently, the only available method to reliably predict osteoporotic fractures is represented by bone mineral density (BMD) measurements on proximal femur or spine, which require the use of X-rays. Aim of this study is to illustrate working principles and feasibility of a new ultrasound (US) method for bone densitometry and osteoporosis diagnosis applicable on both proximal femur and spine.Methods: A new fully automatic algorithm was devel...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

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...

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Objectives: We aimed to evaluate hospitalization rate of femoral neck fractures in the elderly Italian population over ten years.Methods: We analyzed national hospitalizations records collected at central level by Ministry of Health from 2000 to 2009. Age- and sex-specific rates of fractures occurred at femoral neck in people ≥65 years old. We performed a sub-analysis over a 3-year period (2007–2009), presenting data per five-year age groups, ...