Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p114 | (1) | ICCBH2017

Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility

Costantini Alice , Skarp Sini , Kampe Anders , Pettersson Maria , Makitie Riikka , Mannikko Minna , Jiao Hong , Taylan Fulya , Lindstrand Anna , Makitie Outi

Objectives: Early-onset osteoporosis is characterized by low bone mineral density (BMD) and reduced bone strength since childhood or young adulthood. Although several monogenic forms have already been identified, the spectrum of mutations and genes behind this condition remain inadequately characterized. Furthermore, it is not clear whether genetic factors determine susceptibility to bone fractures in children with normal BMD. In order to further explore the genetic background...

ba0007p23 | (1) | ICCBH2019

What happens to the skeleton at the time of diagnosis of paediatric cancer?

Doulgeraki Artemis , Nikita Maria , Kanaka-Gantenbein Christina , Baka Margarita , Karavanaki Kyriaki , Athanasopoulou Helen , Polyzois George , Tsentidis Charalampos , Kossiva Lydia

Objectives: To evaluate the skeletal profile of paediatric patients with cancer at diagnosis.Methods: Children diagnosed with cancer in our Oncology Centre were recruited during a fifteen-month period and underwent metabolic bone profile and dual-energy X-ray absorptiometry (DXA) at the time of diagnosis. Subsequently, they were divided in two subgroups, according to diagnosis; haematological malignancy vs solid tumour. For comparison, a group of 38 sex ...

ba0007p28 | (1) | ICCBH2019

Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study

Broggi Francesca , Vai Silvia , Baranello Giovanni , Sansone Valeria Sansone , D'Angelo Grazia , Pane Marika , Vita Gianluca , Bianchi Maria Luisa

Introduction: Reduced bone mineral density [BMD] and increased fracture risk are common complications in all conditions characterized by severely reduced physical activity and/or requiring long-term glucocorticoid [GC] treatment, including Duchenne Muscular Dystrophy [DMD].Objectives: The RisBo-DMD study (EudraCT 2011-005745-12) is a 24-month prospective multicenter study, aimed at identifying DMD patients at higher risk of fractures and improving the bo...

ba0007p118 | (1) | ICCBH2019

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

Caffarelli Carla , Dea Tomai Pitinca Maria , Francolini Valentina , Canitano Roberto , De felice Claudio , Hayek Joussef , Gonnelli Stefano

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...

ba0007p162 | (1) | ICCBH2019

Bone monitoring and morbidity in adults with duchenne muscular dystrophy: Challenges in implementation of standards of care

Harris Anne-Marie , Di Marco Marina , Raeside David , Davidson Scott , Gallacher Stephen , Farrugia Maria , Wong Sze Choong

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

ba0001pp410 | Osteoporosis: treatment | ECTS2013

Bone turnover markers and radiographic progression of vertebral compression fractures during anti-osteoporotic therapy

Corradini Costantino , Macchi Vittorio , Pasqualotto Stefano , Boisio Francesca , Tradati Daniele , Crapanzano Calogero , Verdoia Cesare

Introduction: In postmenopausal women with vertebral compression fractures (VCF) the mechanisms regulating healing processes and an anti-osteoporotic treatment are not completely clarified. The aim of this prospective study was the evaluation of bone turnover markers, bone mineral density and radiographic progression of one or more VCF during assumption of risedronate, strontium ranelate or teriparatide.Materials and methods: Women with recent osteoporot...

ba0005p107 | Cancer and bone: basic, translational and clinical | ECTS2016

Biological effects of Cabozantinib on bone microenvironment

Pantano Francesco , Fioramonti Marco , Iuliani Michele , Ribelli Giulia , Vincenzi Bruno , Tonini Giuseppe , Santini Daniele

Background: Cabozantinib (CBZ) is a receptor tyrosine kinase inhibitor with activity against MET, VEGFR2, FLT3, c-KIT, and RET. Pre-clinical studies in models of prostate cancer bone metastasis demonstrated that CBZ treatment induced both a suppression of tumour growth and an alteration in bone remodelling, suggesting that both tumour and bone microenvironment represented potential CBZ targets. This is the first study exploring the potential direct activity of CBZ in bone usin...

ba0007p100 | (1) | ICCBH2019

High-resolution MRI assessment of the muscle-fat-bone unit in young adults with childhood onset Crohn's disease

Steell Lewis , Johnston Blair , Ahmed S Faisal , Gaya Daniel R , MacDonald Jonathan , Seenan John Paul , Russell Richard K , Gray Stuart , Wong Jarod

Objective: Childhood onset Crohn’s disease (CO-CD) is associated with musculoskeletal deficits. However, there are limited data regarding muscle-bone outcomes in adults with CO-CD. The current study aimed to comprehensively assess the muscle-fat-bone unit in young adults with CO-CD, using novel methods of MRI, in comparison with healthy controls.Methods: Trabecular microarchitecture and cortical geometry of the distal femur were assessed using 3T mi...

ba0001pp50 | Bone biomechanics and quality | ECTS2013

Micro-morphological properties of osteons reveal changes in cortical bone stability during aging, osteoporosis and bisphosphonate treatment in women

Bernhard Andreas , Milovanovic Petar , Hahn Michael , Djonic Danijela , Krause Matthias , Breer Stefan , Pueschel Klaus , Zimmermann Elizabeth A , Djuric Marija , Amling Michael , Busse Bjoern

Bone remodeling is the key process in bone structural reorganization, and its alterations lead to changes in bone mechanical strength. Since osteons reflect different bone remodeling patterns, we hypothesize that the femoral cortex of females with miscellaneous age, disease, and treatment conditions will display distinct osteonal morphology and osteocyte lacunar numbers along with different mechanical properties.The specimens used in this study were coll...

ba0001pp155 | Cancer and bone: basic, translational and clinical | ECTS2013

Influence of sex steroids on sclerostin levels in patients with prostate cancer

Munoz-Torres Manuel , Reyes-Garcia Rebeca , Garcia-Fontana Beatriz , Morales-Santana Sonia , Varsavsky Mariela , Maria Dolores Aviles-Perez , Garcia-Martin Antonia

There is increasing evidence for the key role of osteocytes in the regulation of bone remodeling. One of the main products of these cells, sclerostin, inhibits bone formation and may also stimulate bone resorption. To our knowledge, there are few data in prostate cancer (PC) patients especially in patients with hypogonadism related to androgen deprivation therapy (ADT). The aim of this study was to compare serum levels of sclerostin in ADT-treated and untreated PC patients wit...