Bone Abstracts

Objectives: To evaluate the effect of oral ibandronate on bone health in osteoporotic children and adolescents, as there are only scarce data regarding its use in pediatric population.Patients, materials, methods: We enrolled seven patients (six boys; one girl; mean age 15.3±3.8 years; range 8–18 years) with low bone mineral density (BMD) (mean 0.746±0.141 g/cm2; i.e. −3.3±1.5 S.D. z-score) and...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Introduction: Bone mineral density (BMD) is a highly heritable trait used to assess skeletal health in children and risk of osteoporosis later in life. To date >60 loci associated with bone-related traits measured at different skeletal sites have been identified. We conducted a genome-wide association study (GWAS) meta-analysis of total body (TB-)BMD in children and adults to identify genetic determinants and age-specific effects of loci on this trait.<p class="abstext...

Recent studies suggest the link between low vitamin D levels and the prevalence of cardiovascular disease, diabetes, hypertension and a number of different types of cancer. Nowadays, vitamin D deficiency is recognized as a pandemic health problem and pediatric cancer patients may be even at higher risk than the healthy children. Children suffered from malignancy are especially exposed to its deficiency, because of the potential impact of the disease and its treatment. However,...

Background: Chronic renal, liver and heart failure in children associate with multiple skeletal complications. Increased fracture incidence often persists after transplantation and might be related to alterations in bone material properties. Moreover, it is not clear whether bisphosphonate therapy (BP) alters bone matrix mineralization in these patients.Methods: In the present study we evaluated bone mineralization density distribution (BMDD) by quantita...

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...

Nutrition and physical activity are two main important factors influencing bone mineral mass accumulation during childhood and adolescence. Newcomer immigrant/refugee children are at a high risk of poor nutritional status. Vitamin D deficiency, in particular, and its related diseases is a major concern due to minimal sun exposure in countries in high latitude and limited dietary sources. Using Healthy Immigrant Children (HIC) polite data (n=72), we previously...

Objectives: Different versions of the Childhood Health Questionnaire (CHAQ) have been used in Paediatric Rheumatology since 1994 to establish levels of functional disability. To date, use of the CHAQ has not been reported in Osteogenesis Imperfecta (OI). The aim of this study was to establish if disability scores generated from a modified CHAQ (MCHAQ) correlate with OI severity.Methods: The MCHAQ was developed to reflect the specific needs of children wi...

Objective: Osteogenesis imperfecta (OI) which is a heterogenic group of diseases presenting with bone fragility, skeletal deformations and limited mobility may confer a risk of several non-skeletal health issues and is associated with adaptational social problems. The aim of the qualitative descriptive study was to determine the most important areas (problems?) related to social functioning, familial environment, hospital amenities and social needs in children with OI.<p c...

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...