Bone Abstracts

Objective: Linear growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in 3–5 specific zones. Due to their discrete characteristics, distinct analysis of each zone is essential in basic GP research. While the efficiency of zonal separation is therefore highly influencing on study results, comparative data on commonly used me...

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

Objectives: The present study aims to evaluate the longitudinal association of fat mass (FM), fat free mass (FFM) with bone stiffness index (BSI) in European children and adolescents over 2 and 6 years follow-up. METHODS: We included children of the IDEFICS/I. Family cohort, who participated in repeated measurements of BSI using calcaneal quantitative ultrasound (QUS), body composition using skinfold thickness, sedentary behaviours (SB) and physical activity (PA) using self-ad...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Objectives: To estimate the status of 25-hydroxyvitamin D in healthy Mexican children and to describe factors related to vitamin D deficiency.Methods: A cross-sectional study was conducted in children 2–14 years old in Mexico City and Toluca Edo de Mexico. Trained interviewers applied a questionnaire including all relevant demographics, medical history, sun exposure, sunblock use and skin phototype. Morning fasting blood was collected in all subject...

Introduction: Hypophosphatasia is a rare genetic disease caused by a mutation in the tissue-nonspecific alkaline phosphatase gene. TNSALP gene is located on the short arm of chromosome 1 (1p36.1-34). Over 200 point mutations have been described for this gene so far. Hypophosphatasia is inherited in an autosomal recessive or dominant way, which is related to the severity of symptoms. Pathophysiology of this disease is associated with the impaired function of osteoblasts that do...

Introduction: The bone mineral density loss may be related to cancer. A specific correlation in the neuroendocrine tumors (NET) is not fully described yet.Aim: The analyze DXA in patients with or without NET.Material and method: We perfomed central DXA (spine and hip) with a GE Lunar device in post-menopausal women. None of them were previously treated with anti-osteoporotics drugs. The study groups included women with carcinoid tu...

Different results might be registered in DXA assessment in patients with neuroendocrine tumors (NET) since various factors induce bone disturbances as bone metastases, vitamin D hypovitaminosis, etc.Aim: The analyze DXA in NET.Material and method: The patients (p) were evaluated between 2008 and 2013. The diagnosis of NET was histological confirmed. We also included medullar thyroid cancer (MTC) with distance metastases and carcino...

Aim: The aim of the study was to evaluate the usefulness of the fracture risk evaluated through the FRAX® model based only on the clinical risk factors as a screening tool for identify the target population for treatment in osteoporosis.Materials and methods: Two hundred and seventy-six postmenopausal women treatment naive referred to two different endocrinology departments for osteoporosis between 2009 and 2011 were evaluated. The FRAX® model ...