Bone Abstracts

Objectives: Vertebral fractures are common in boys with DMD taking daily corticosteroids. Treatment is usually initiated when vertebral fractures have been identified. However, prophylactic treatment may be possible if reliable risk factors for vertebral fracture can be identified. The aim of this work was to compare the diagnostic accuracy of three different bone strength assessment techniques in a cohort of DMD boys.Methods: Thirty-three boys with DMD ...

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...

Objective: Aim was to cross sectionally study bone health parameters assessed by DEXA and serum IGF1 concentrations in 6–16 year old children with type 1 diabetes. We hypothesized that height and bone parameters would be impaired in diabetic children compared with contemporary reference population.Method: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA (n=170, 77 boys). Z-scores for TBBM...

Objectives: Previous studies have shown that burden of infections is greater in those with low body stores of vitamin D. Vitamin D is a key mediator of innate immunity and is crucial in production of cathelicidin, a potent antimicrobial agent. Vitamin D deficiency is common among Indian children; the prevalence of infections is high. Thus, aims of our study were to examine the association between: i) serum 25-hydroxyvitamin D (25OHD) concentrations and symptoms of infections a...

Objectives: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. This paired randomised controlled pilot study assessed the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI.Methods: Twenty-four children (5–16 years) with OI types 1,4 and limited mobility (defined as a Childhood...

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: Earlier studies performed using dual energy X-ray absorptiometry indicate that underprivileged Indian girls acquire low bone mass during adolescence. Therefore, aim was to assess bone geometry of underprivileged Indian adolescent girls (age 12–19 years) using peripheral quantitative computed tomography (pQCT).Methods: Fifty-six adolescent girls were assessed for anthropometry (height, weight) (February 2016 to January 2017) and pQCT (STR...

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...

Objective: Expansion of bone marrow, accumulation of iron, growth failure and delayed puberty affect bone health in thalassemia; data on bone density and geometry are scarce. Our objective was to assess bone density (by Dual Energy X-ray Absorptiometry, DXA) and geometry (by peripheral quantitative computed tomography, pQCT) in children with thalassemia major.Methods: Children with thalassemia were recruited from a hematology clinic in Pune (India) (Mean...

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...