Bone Abstracts

Objectives: To evaluate bone health and its possible correlations to body composition parameters in young patients with galactose metabolic disorders, aiming to suggest appropriate lifestyle interventions.Methods: We studied 22 patients, aged 5–16 years with galactose metabolic disorders, detected by neonatal screening. Fourteen suffered from classic galactosemia and eight from other galactose metabolic disorders (i.e. epimerase or galactokinase def...

Objectives: To evaluate bone status and body composition in patients with phenylketonuria and hyperphenylalaninemia.Methods: Eighty patients (48 with phenylketonuria and 32 with hyperphenylalaninemia), aged 5–18 years, early-diagnosed, underwent dual energy X-ray absorptiometry. Bone mineral density (lumbar spine and total body), bone strength (bone mineral content:lean tissue mass ratio), lean tissue mass, body fat percentage, and fat mass index we...

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

The quantum leaps in scientific progress have frequently come from technological innovations, which can be referred to as the technology push. In the life-sciences this has been exemplified by the emergence of all kinds of ‘omics’ technologies reflecting the capacity to analyse complete and complex molecular mixtures in a hypothesis-free approach, also known as ‘fishing expeditions’ by more sceptical fellow scientists. Such approaches have been developed fo...

Introduction: Meniscus plays an essential role in knee joint function providing stability and load transmission. In osteoarthritis (OA), a joint disease characterized by chronic synovitis and cartilage degeneration, pathological changes in the menisci are observed. However, whether menisci contribute to the progression of OA, the underlying mechanism for meniscus-cartilage communication is still unclear. In this study we analyzed systematically the response of meniscus and car...

We have shown previously that TSG–6 acts as an autocrine regulator of osteoclast activity in vitro, capable of inhibiting RANKL-mediated osteoclastic bone resorption with a similar potency to OPG1,2. Thus, the TSG–6 protein has the potential to be developed as a novel treatment for osteoporosis, which is associated with excessive bone loss3.The aim of this study was to determine the therapeutic potential of the is...

Objective: Growth of patients with cystic fibrosis (CF) and meconium ileus is frequently compromised. The aim of this prospective study was to evaluate body composition in this particular group of patients. We hypothesized that history of meconium ileus could predict suboptimal growth, bone, muscle and fat mass, irrespective of other prognostic factors for CF.Methods: CF subjects were investigated over a 3-year period. Their medical records were reviewed...

Objectives: To evaluate bone health and body composition in Greek patients with Duchenne muscular dystrophy (DMD), hypothesizing that prepubertal patients would not be fatter than controls, given the Greek obesity epidemic. Greece ranks among the first countries in overweight and obesity prevalence globally; 30 and 13% of childhood population respectively.Methods: Cross-sectional study, conducted at the Greek Institute of Child Health (Athens) over a 2-y...