Bone Abstracts

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...

MicroRNAs are important regulators of gene expression with documented role in bone metabolism and osteoporosis. Moreover, the use of miRNAs constitutes potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured compared to healthy bone. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of the differentially expressed miRNAs. Total RNA was extracted from fresh femoral neck trabecular bone from women...

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The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...

Overall objective: To describe the incidence and relationship between the period of application of zoledronic acid and the presence of atypical diaphyseal fractures and subtrochanteric pattern in pediatric patients with osteogenesis imperfecta in the Mexican population.Method: Type of study: Ambispective cohort in pediatric patients with a diagnosis of osteogenesis imperfecta. Prognostic variable: duration of treatment with AZ Outcome variable: presence ...

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coa...

We performed a prospective study on 440 young patients (aged 3–20 years), affected by various chronic diseases (cystic fibrosis; juvenile idiopathic arthritis; nephrotic syndrome; systemic lupus erythematosus; Duchenne muscular dystrophy; autoimmune hepatitis; transplants; etc.), with periodical bone mineral density (BMD) evaluations with DXA, for 3–14 years (7.8±6.2).266 patients were on long-term treatment with glucocorticoids (GCs); amo...

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