Bone Abstracts

Osteogenesis imperfecta is a rare disease leading to multiple fractures, skeletal deformities and scoliosis due to a reduced bone mass. Pathological fractures caused by inadequate traumata are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. At present no approved drugs for OI treatment in childhood are available. A single centre prospective pilot study was performed to assess safety and effic...

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

Background: Tricho-rhino-pharyngeal syndrome (TRPS) is a rare genetic disorder, which is characterized by craniofacial and skeletal abnormalities. Presenting problem: This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features (pear-shape nose, long flat philtrum, thin upper vermilion border, and protruding ears), thin, sparse scalp hair, and different skeletal abnormalities with normal mentation. All of the...

Osteoporosis and vertebral fractures are recognised complications of ankylosing spondylitis (AS) but the underlying causes are incompletely understood. Osteoprotegerin (OPG) is a decoy receptor for RANK-L and inhibits osteoclastogenesis. We have previously demonstrated that antibodies to OPG (OPG-Ab) are associated with osteoporosis and increased bone turnover in patients with autoimmune diseases. The aim of this study was to determine whether OPG-Abs were detectable in AS pat...

The aim of the study was to evaluate effects of 6-month-long administration with nanopartical calcium on morphological and densitometric properties of axial skeleton in pigs subjected to osteoporosis induction with dexamethasone. Male newborn piglets (N=28) were divided after birth into four equal groups (control group receiving placebo, Dex group receiving dexamethasone, NanoCa group receiving orally nanopartical calcium and NanoCa/Dex group) receiving simultaneously...

The aim of this study was to determine morphological and densitometric parameters of mandible obtained from male and female silver foxes (Vulpes vulpes). The study was performed on 1-year-old males (n=7) and females (n=8). Mandible was isolated and subjected to morphological and densitometric analysis using quantitative computed tomography (QCT) method and Somatom Emotion Siemens apparatus (Siemens, Erlangen, Germany) equipped with Somaris/5 VB10B so...

Objectives: Hypophosphatasia (HPP) is a rare hereditary disease, leading to deficits in bone and tooth mineralization, muscular as well as neurological abnormalities due to decreased enzymatic activity of the tissue-nonspecific alkaline phosphatase (TNAP, encoded by the alpl gene). In this project, the zebrafish (Danio rerio) will be established as a new and valuable animal model for HPP research. Consequently, endogenous TNAP expression should be analyzed in different zebrafi...

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...

Preclinical and epidemiologic data suggest that vitamin D deficiency may play a role in the pathogenesis and progression of prostate cancer. Based on recently reported genetic determinants of vitamin D insufficiency we investigated a functional T>G single nucleotide polymorphism (SNP) in the group-specific component (GC) gene for its association with 25-hydroxy (25-OH) vitamin D and 1.25 dihydroxy (1.25-OH) vitamin D levels and further to test a possible association with m...