Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p96 | (1) | ICCBH2019

Radiofrequency echographic multispectrometry (REMS): a new approach for osteoporosis diagnosis in adolescents

Caffarelli Carla , Pitinca Maria Dea Tomai , Nuti Ranuccio , Gonnelli Stefano

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...

ba0001pp325 | Osteoporosis: evaluation and imaging | ECTS2013

Relationship between quantitative ultrasound parameters at calcaneous and health-related quality of life domains in postmenopausal Italian women: the FEDRO study

Gonnelli Stefano , Caffarelli Carla , Guglielmi Giuseppe , Rossi Stefania , Adami Silvano , Nuti Ranuccio

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...

ba0003pp76 | Bone development/growth and fracture repair | ECTS2014

Relationship between vitamin D levels and carotid arterial stiffness in postmenopausal women with hypertension

Gonnelli Stefano , Caffarelli Carla , Tafa Aferdita , Gianbelluca Amalia , Pondrelli Carlo Renato , Nuti Ranuccio

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 ...

ba0004p168 | (1) | ICCBH2015

Ambulatory impairment and bone status in subjects with Rett Syndrome: a 10-year longitudinal study

Caffarelli Carla , Pitinca Maria Dea Tomai , Francolini Valentina , Hayek Joussef , Nuti Ranuccio , Gonnelli Stefano

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...

ba0005p480 | Paediatric bone disease | ECTS2016

The influence of mobility on bone status in subjects with rett syndrome: a 10-year longitudinal study

Caffarelli Carla , Pitinca Maria Dea Tomai , Francolini Valentina , Hayek Jussef , Nuti Ranuccio , Gonnelli Stefano

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...

ba0006p092 | (1) | ICCBH2017

Bone mineral density and quantitative ultrasound in the longitudinal monitoring of bone status in patient with Neurofibromatosis Type 1

Caffarelli Carla , Francolini Valentina , Pitinca Maria Dea Tomai , Nuti Ranuccio , Gonnelli Stefano

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...

ba0001pp120 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013

Interaction between FGF23 R176W mutation and C716T nonsynonymous change (T239M, rs7955866) in FGF23 on the clinical phenotype in a family with autosomal dominant hypophosphatemic rickets

Merlotti Daniela , Rendina Domenico , Gennari Luigi , Esposito Teresa , Magliocca Sara , De Filippo Gianpaolo , Strazzullo Pasquale , Nuti Ranuccio , Gianfrancesco Fernando

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...

ba0002p82 | (1) | ICCBH2013

The influence of sclerostin serum levels on bone mineral density and body composition in patients with Rett syndrome and healthy adolescent girls

Caffarelli Carla , Tanzilli Loredana , Pitinca Maria Dea Tomai , Hayek Joseph , Francolini Valentina , Franci Beatrice , Nuti Ranuccio , Gonnelli Stefano

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...

ba0003pp368 | Other diseases of bone and mineral metabolism | ECTS2014

Vitamin D supplementation decreases the occurrence of acute phase response following i.v. bisphosphonate treatment in Paget's disease of bone

Merlotti Daniela , Gennari Luigi , Franci Maria Beatrice , Lucani Barbara , Campagna Maria Stella , Cresti Laura , Stolakis Konstantinos , Rotatori Stefano , Nuti Ranuccio

Acute phase reaction (APR) is the most frequent side effect following i.v. nitrogen-containing bisphosphonates (N-BPs) infusion. A recent observation in osteoporotic women treated with N-BPs evidenced a negative association between 25(OH)D levels and APR, likely due to the immuno-modulatory effects of vitamin D on γδTcells. However, this association remains to be demonstrated in patients with Paget’s disease of bone (PDB). Moreover whether vitamin D supplementat...

ba0001pp477 | Other diseases of bone and mineral metabolism | ECTS2013

A OPTN variant (rs1561570) interacts with TNFRSF11A polymorphism (rs1805034) on the clinical phenotype of sporadic Paget's disease of bone

Merlotti Daniela , Gennari Luigi , Gianfrancesco Fernando , Rendina Domenico , Stefano Marco Di , Esposito Teresa , Divisato Giuseppina , Morello Giovanna , Muscariello Riccardo , Isaia Giancarlo , Strazzullo Pasquale , Nuti Ranuccio

Despite mutations in SQSTM1 gene have been detected in up to 50% of patients with familial Paget’s disease of bone (PDB), their prevalence is low in sporadic PDB, likely due to the presence of additional predisposition genes. Recently, at least seven genes were associated with PDB in genome-wide-association studies, including polymorphic variation in OPTN,encoding for optineurin. In particular, a single OPTN variant (rs1561570) was highly associated with...