Bone Abstracts

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...

Background: Final stature is a result of concomitant growth hormone (GH)-IGF1 axis integrity, a healthy environment and genetic background. Occasionally, growth occurs despite remarkable impairment in hormone profile. Presenting problem: An uncommon case of longitudinal growth in a boy with very low IGF1 concentrations and clinical diagnosis of osteopetrosis. Clinical management: We report on the case of a 19 year-old male patient with the diagnosis of osteopetrosis who had a ...

Epigenetic mechanisms regulate gene expression and are heritable through cell divisions even though they do not involve modifications in the gene sequence. They include methylation and other chemical modifications of cytosine nucleotides, histone posttranslational modifications, microRNAs and other non-coding RNAs. Most cytosines in the human genome are methylated, particularly in the inactive, tightly packed, heterochromatin of autosomes, and the inactivated X-chromosome in f...

Increased understanding of the biochemical pathways leading to MV-mediated initiation of skeletal, dental and vascular calcification has been attained through the extensive use of single and double knockout mouse models as well as via overexpression of genes by transgenesis. Our current integrated model of these pathways is compatible with the following sequence of events: MVs initiate mineral deposition by accumulation of Pi generated intravesicularly by the action...

Biographical DetailsJosé Luis MillánProfessor José Luis Millán received his early training in clinical chemistry and biochemistry at the University of Buenos Aires, Argentina, and his PhD in Physiological Chemistry at the University of Umeå, Sweden, in 1983. Professor Millán is currently based at the Children’s Hea...

Background: The ‘adequate’ level of 25-hydroxyvitamin D (25OHD) in children remains unclear. For bone outcomes, parathyroid hormone (PTH) is an important functional biomarker. Prior studies have shown too weak a correlation between 25OHD and PTH levels to determine adequate 25OHD level.Objective: To determine adequate 25OHD level(s) in children using a normal PTH value of 65 pg/ml while adjusting for calcium intake.Design...

Introduction: Denosumab monoclonal antibody approved for Osteoporosis’s treatment in Europe union and U.S.A. Dose of 60 mg every 6 months reduces the risk of vertebral, non vertebral and hip fractures. What is more increases BMDMaterial and methods: Descriptive observational study with densitometric characterisques and risk factors of 64 patients in Osteoporosis unit of HGUG Marañón from November 2011 to December 2013. Analyzing occurrence...

Background: The baby growing in its mother’s womb needs calcium for skeletal development. Maternal osteoporosis has been attributed to pregnancy in some cases.Presenting problem: A 27-year-old woman in the 7th month of her first pregnancy complained of mid-thoracic back pain after lifting a non-heavy object. The pain remained with differing intensity and was attributed to her pregnancy. After the delivery of a healthy child, the back pain prevented ...

Skeletal development during childhood and adolescence is an important determinant of adult bone health. Patterns of growth differ between populations, but it is unclear how these differences relate to changes in bone size and volumetric density. We aimed to examine ethnic differences in skeletal phenotype in the context of pubertal growth and development in 279 adolescent males from Johannesburg, South Africa.We performed annual peripheral quantitative c...

Objectives: Intravenous bisphosphonates have been used in children for various primary and secondary bone fragility disorders for three decades but beyond osteogenesis imperfecta, there is very limited information published in relation to outcomes. We report the experience at the Royal Children’s Hospital (RCH), Melbourne using Zoledronic acid (ZA), describing outcomes based on the underlying condition for which treatment was given, with the aim of informing future protoc...