Bone Abstracts

Objective: Dual-energy X-ray absorptiometry (DXA) is the most commonly used method for evaluating bone mineral density (BMD) in children and adolescents. An innovative echographic approach for osteoporosis diagnosis, directly applicable on both femoral neck and lumbar spine, has been recently introduced and clinically validated through single-center and multicenter studies in a adult population. This developed approach has been subsequently defined as Radiofrequency Echographi...

Reduced bone mineral density (BMD) has been reported to adversely affect health related quality of life (HRQoL) also in postmenopausal women without vertebral fracture. To date no data exist in literature about any possible influences of quantitative ultrasonography (QUS) on HRQoL. This study aimed to assess whether QUS parameters at calcaneous may be associated with HRQoL.In 1812 ambulatory postmenopausal women aged 60 years or over, referred by their f...

Arterial stiffness or pulse wave velocity (PWV) is increasingly recognized as a strong predictor of future cardiovascular events and all cause mortality. Literature date indicate a relationship between vitamin D (25-OHD) deficiency and arterial stiffness in isolated systolic hypertension (ISH), but it is still unclear how 25-OHD deficiency may contribute to functional changes of the arterial wall in hypertensive patients. This study aimed to evaluate the relationships between ...

Objective: Low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. The frequent occurrence of osteopenia raises questions regarding the direct influence of MECP2 gene mutations on bone growth and attainment of peak bone mass. It is well known that other critical factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition sta...

Low bone mass is a frequent complication of subjects with Rett syndrome. It is well known that many factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition status, the low levels of 25OHD and the ambulatory impairment influence the attainment of peak bone mass in Rett subjects. This study aimed to investigate the long-term influences of mobility on bone status in girls with Rett syndromeIn 47 girls with Rett syndrome, se...

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

Objective: Sclerostin, product of the SOST gene, is an important determinant of bone formation and resorption. Rett patients, frequently present marked decreases in bone mineral density (BMD) beyond that expected from disuse atrophy. However, sclerostin has not been yet examined in Rett subjects as a potential mediator of impaired bone metabolism.Methods: This study aimed to investigate whether there is any associations between sclerostin levels, body co...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

Since their initial discovery, microRNAs (miRNAs) have emerged as critical post-transcriptional regulators of gene expression that are able to modulate bone remodeling. Nonetheless, despite the peculiar and aggressive phenotype of pagetic osteoclasts and the associated increase in osteoblast activity, whether deregulation of miRNAs is involved in Paget’s disease of bone (PDB) remains unknown. Here, we performed a serum miRNA expression profile (Taqman Human MicroRNA Array...