Bone Abstracts

Dedicated occupational therapy and physiotherapy service for children and families with Osteogenesis Imperfecta (OI) at the Royal Manchester Children’s Hospital were set up in September 2017 to provide multidisciplinary management.Objectives: The aim is to assess if the newly established specialist paediatric occupational therapy and physiotherapy service is meeting the needs of the patients and their families.Method: A paper ...

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: 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...

Bone remodeling is a crucial process to maintain a healthy bone structure in order to avoid diseases like osteoporosis or osteopetrosis. Osteoclasts contribute to this process by resorbing old and brittle bone allowing osteoblasts to renew the bone substance. During resorption osteoclasts rearrange their actin cytoskeleton by forming an F-actin ring generating a resorptive cavity on the bone surface. Recently, we reported that the F-actin binding protein SWAP-70 regulates oste...

Background: Oral glucocorticoids (GC; prednisolone dose of 0.75 mg/kg per day), help to preserve muscle strength and prolong independent walking in boys with DMD. This study compared longitudinal growth, body mass index (BMI), bone mineral density (BMD), vertebral fractures (VFs) and ambulatory status in boys with DMD on daily (DAILY) or intermittent (INTER; 10 days on & 10 days off), oral GC regimens.Methods: 50 DMD boys from two UK centres were inc...

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

Objectives: To evaluate the skeletal profile of paediatric patients with cancer at diagnosis.Methods: Children diagnosed with cancer in our Oncology Centre were recruited during a fifteen-month period and underwent metabolic bone profile and dual-energy X-ray absorptiometry (DXA) at the time of diagnosis. Subsequently, they were divided in two subgroups, according to diagnosis; haematological malignancy vs solid tumour. For comparison, a group of 38 sex ...

Objectives: Nutritional Rickets (NR) is the commonest cause of rickets worldwide. Although the prevalence of rickets has been widely reported to be increasing, the actual national incidence of NR in the United Kingdom (UK) is unknown.Methods: Retrospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit (BPSU) reporting methodology. Clinicians completed an online...

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

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...