Bone Abstracts

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: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...

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...

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 ...

It is well-established that in vitro differentiation of embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) can recapitulate embryonic development through germ layer induction, enrichment and expansion of specific lineages. We have used PSC technology and developed a novel, mESC differentiation system for investigating the mechanisms of chondrocyte and osteoblast lineage commitment and differentiation. This step-wise, serum-free protocol uses specif...

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...

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 ...

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 ...