Bone Abstracts

Objectives: To evaluate musculoskeletal development using pQCT and DXA in childhood onset inflammatory bowel disease (IBD).Methods: Prospective longitudinal study with 12 months follow-up in 43 children (23 males) with IBD: 30 crohn’s disease(CD), 13 ulcerative colitis (UC) and inflammatory bowel disease unclassified (IBDU). pQCT at 4% and 66% radius, DXA for total body (TB), lumbar spine (LS) bone mineral content were assessed at baseline and 12 mo...

Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

Celiac disease (CD) is a frequent cause of malabsortion in childhood and affects calcium and vitamin D absorption.Aim: Analyze the vitamin D levels and bone mineral density (BMD) at diagnosis in patients affected with CD, and the influence of the age of diagnosis in the clinical presentation.Patient: 52 patients (female: 26) were evaluated.Results: The percentage with vitamin D deficiency (<20 ng/ml) was ...

Objectives: i) Describe bone mineral density (BMD) of children with MPS IV (Morquio disease), a rare genetic disorder which produces skeletal deformity, small stature and results in physical limitations such as the ability to walk.ii) Examine fracture history and factors affecting bone health in Morquio.iii) Describe technical issues encountered in assessing BMD by DXA in Morquio.Methods: In this prospective ...

Objective: To examine the impact on growth and bone mineral density (BMD) of tyrosine kinase inhibitors (TKI) vs hematopoeitic cell transplant (HCT) for treatment of chronic myelogenous leukemia (CML) in patients <18 years of age.Methods: We performed a retrospective review of children with CML in chronic phase treated between 1992 and 2011 at a single institution and evaluated available growth and BMD data.Results: Twenty-five...

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...

Objective: To examine the bone mineral density (BMD), fracture occurrence and history in a cross-section of subjects with Pelizaeus Merzbacher Disease (PMD).To describe the effect of pamidronate therapy on BMD over time in treated PMD patients.Methods: We examined the medical history, medications, level of ambulation, fracture history and DXA results in 15 boys with PMD. Body sites scanned included whole body (WB) when possible, lu...

Objectives: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). Affected females have short stature and present with primary amenorrhea. Good densitometric predictor of fractures and longitudinal data on BMD development in childhood and adolescence are still lacking.Patients and methods: Single tertiary care endocrinology center longitudinal study was performed. Peripheral qu...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...