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: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

Several environmental and genetic factors are determinant, also including sex, hormonal, ethnics, nutritional and lifestyle, may interferer on bone mass of children. However, the pediatric studies that approach the socioeconomic status and the quantitative ultrasound parameters (QUS) are scarce. The aim of this study was to compare the socioeconomic status on bone mass assessed by QUS in boys from 7 to 15 years old. In this cross-sectional study, were evaluated 520 Brazilian b...

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...

Department of Biomedical Sciences and Medicine and Centre of Marine Sciences, University of Algarve, Faro, PortugalIn the last decade there has been a growing interest towards the use of fish as models to understand the basic mechanisms of cartilage and bone formation, maintenance and regeneration. In particular, zebrafish and medaka have become accepted models for human skeletal development and associated pathologies such as craniofacial dysplasia, oste...

Acute lymphoblastic leukemia (ALL) is the most frequent form of childhood malignancy, with a cure rate that now exceeds 80%. As survival improves, the clinical consequences of ALL and its treatment are increasingly recognized, with skeletal health emerging as an important care issue. The skeletal morbidity that arises in this setting falls into two main categories: osteoporosis (low trauma fractures) and osteonecrosis (in situ bone death). Osteoporosis and necrosis ha...

Additionally to the standard histomorphometric and pathohistologic evaluation, the transiliac bone biopsy sample from a patient can be further analyzed for additional information on structural and material characteristics. Under the term ‘new histology’, several non-destructive techniques and combinations thereof providing high spatial resolution have been introduced. In contrast to conventional histology, these techniques allow the characterization of structural, co...

Osteoporosis in Duchenne Muscular Dystrophy (DMD) is arguably one of the most severe bone fragility conditions among children with chronic illnesses. This is hardly surprising, given the deleterious effects of the myopathy and glucocorticoid (GC) therapy on bone strength. The severity of the osteoporotic phenotype is highlighted by observations that 60% of boys will sustain long bone fractures during childhood and a third will present with back pain due to vertebral fractures ...

Biographical DetailsLeanne WardDr Leanne Ward is an Associate Professor of Pediatrics at the University of Ottawa where she has held a Research Chair in Pediatric Bone Health since 2010. She is the Medical Director of the Pediatric Bone Health Clinical and Research Programs at the Children’s Hospital of Eastern Ontario. Dr Ward’s research ...