Bone Abstracts

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

Objectives: From late 2015 a new protocol for zoledronic acid was adopted in our centre. This led to many children changing from pamidronate (PAM) to zoledronic acid (ZA) treatment. In a minority of cases the children and/or their families felt strongly that they wanted to change back to PAM. We present the characteristics of that minority and how bone turnover markers (BTMs) and bone mineral densities (BMD) changed whilst on ZA.Method: From Nov 2016 to ...

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients – 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

Focal cortical thinning and loss of trabecular structure in the proximal femur is associated with hip fracture. We analysed clinical computed tomography (CT) scans in cases and controls to explore their contributions to hip fracture in women.We used cortical bone mapping (CBM) and statistical parametric mapping (SPM) after combining women with hip fracture from FEMCO and Prague Hip Joint in Trauma studies (n=138, 52 Trochanteric and 86 Femoral N...

Bisphosphonates are used in the treatment of a variety of diseases with skeletal complications. With the development of more potent compounds, there is the potential for further improvement. One concept is to use compounds with a reduced affinity for bone, reducing their long-term retention and possible adverse events, as well as potentially enhancing their non-skeletal benefits. We hypothesise that a highly potent bisphosphonate with low bone affinity, known as OX14, will be ...

The relationship between BMD T-score and FX risk has not been established in patients receiving osteoporosis therapy. In the FREEDOM Extension study, continuous DMAb therapy for up to 10 years increased BMD levels with no therapeutic plateau at lumbar spine or TH [Bone et al, ASBMR 2015]. Such improvements would only be meaningful if associated with FX reductions. We investigated the relationship between TH BMD T-score and NVFX in women who received DMAb during FREEDOM and tho...

Bone has recently emerged as a novel endocrine organ regulating glucose metabolism. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (NPP1) controls bone mineralisation by generating the mineralisation inhibitor pyrophosphate. In clinical studies increased activity of NPP1 has been found in patients with insulin resistance, and it has been shown to directly inhibit the insulin receptor. We hypothesised that mice lacking NPP1 (Enpp1−/−) would exhibit im...

Osteosarcoma is the most frequent primary bone tumor that develops mainly in young adults. The survival rate at 5 years is below 30% for patients with poor response to treatment or with metastasis.The histones modifications are of critical importance in maintaining the transcription program of both normal and tumor cells. The bromodomain and extra-terminal domain (BET) protein family is an important class of ‘histone reading protein’ capable to...