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...

Objectives: Haemophilia A (FVIII deficiency) is an X-linked disorder of haemostasis with bleeding tendency, mainly in joints and muscles. Recurrent haemarthroses, subsequent immobilization and avoidance of contact sports, may affect these patients’ skeletal health.Methods: Evaluation of bone health was performed in 51 children with Haemophilia A (severe: 41, all on prophylaxis treatment), mean age: 11.7±3.6 years. Dual-energy X-Ray absorptiomet...

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...

Background: Several bone metabolic pathways are disrupted in diabetes mellitus (DM), leading to reduced bone mass. Increased fracture risk and elevated Dickkopf-1, which is an inhibitor of the Wnt/b-catenin bone metabolic pathway, have been documented in adult patients with type 2 DM. No relevant data exist on childhood type 1 DM (T1DM).Objective and hypotheses: We aimed at studying plasma Dickkopf-1 concentration in children and adolescents with T1DM an...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Introduction: Oral health problems are common in patients with primary metabolic bone diseases. We aimed to investigate the oral health of patients with primary osteoporosis and genetic mineralization disorders and correlate the oral health findings with clinical, imaging and laboratory parameters.Patients and methods: Twenty nine patients 2.8y-17y (15 males, 22 prepubertal) with primary metabolic bone diseases underwent a comprehensive dental examinatio...

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility, resulting in low-energy fractures. Other features are compromised growth, blue sclerae, dental, cardiac and hearing abnormalities.Presenting problem: A girl with OI, hypothyroidism and growth hormone (GH) deficiency is presented. She was born at 32 weeks [birth weight: 1890 gr, length: 44 cm]. Her mother had OI and thyroid nodules. Both were found with heterozygous mutation in t...

Background: Cleidocranial dysplasia (CCD) is an ultra-rare (1/1,000,000) genetic bone disorder, characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanelles and multiple dental abnormalities. It is caused by mutations in the RUNX2 gene, involved in the differentiation of osteoblasts.Presenting Problem: A case of a 13 year-old girl with a clinical diagnosis of CCD is reported. Her clavicles were hypoplastic and her shoulders co...