Bone Abstracts

Background: There are currently 456 rare bone disease recorded within 40 groups. Within many of these diagnoses there is marked heterogeneity of severity and complications that is often not explained by current understanding of disease mechanisms. There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies based on understanding sub-phenotypes within existing diagnostic groups.Aim: To develop a nationa...

Animal studies suggest that fetal movements are key to healthy skeletal development, but evidence in humans is limited. Breech presentation occurs in 3% of term births and is associated with reduced fetal movement and higher incidence of hip dysplasias, but more general effects on bone development have not been explored.Offspring whole body bone outcomes were measured using dual-energy X-ray absorptiometry (DXA) at mean(SD) 6(5) days after birth in 993 i...

Objectives: Children who fracture have lower bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) than children who do not sustain fractures, but there is little data on bone microarchitecture in relation to childhood fracture. We assessed tibia microarchitecture using high resolution peripheral quantitative computed tomography (HR-pQCT) in children with recent fracture and those without a history of fracture.Methods: Children ag...

Objectives: Weight bearing physical activity (PA) is thought to be beneficial to bone mineral accrual in childhood, but the influence of PA and sedentary time on bone microarchitecture is less well described. We examined the relationships between self-reported PA and volumetric bone mineral density (vBMD) and bone microarchitecture at the distal tibia, assessed using high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: Healthy c...

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...

Maternal vitamin D status has been positively associated with infant bone mass in observational studies. We therefore evaluated whether 1000 IU/day cholecalciferol during pregnancy would lead to greater offspring bone mass at birth, in a UK, multicentre, randomised, double-blind, placebo-controlled trial (MAVIDOS, ISRCTN82927713).At 12 weeks’ gestation, pregnant women with a serum 25-hydroxyvitamin D [25(OH)D] 25-100 nmol/l were randomised to either...

Objectives: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with 25-hydroxyvitamin D (25(OH)D) status, but these relationships have not been examined in pregnancy or following antenatal vitamin D supplementation. We assessed whether SNPs in DHCR7 (7-dehydrocholesterol reductase), CYP2R1 (25-hydroxylase), CYP24A1 (24-hydroxylase) and GC (Vitamin D binding protein) were associated with the re...

Bone has recently emerged as a novel endocrine organ regulating glucose metabolism. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (NPP1) controls bone mineralisation by generating the mineralisation inhibitor pyrophosphate. In clinical studies increased activity of NPP1 has been found in patients with insulin resistance, and it has been shown to directly inhibit the insulin receptor. We hypothesised that mice lacking NPP1 (Enpp1−/−) would exhibit im...

Objectives: Serum 25(OH)-vitamin D (25(OH)D) concentration is known to influence muscle function in postnatal life. Maternal 25(OH)D status during pregnancy has been implicated in the fetal programming of bone and fat mass, but little is known about its role in determining offspring muscle development. We investigated the associations between maternal serum 25(OH)D concentration in pregnancy and offspring muscle mass and strength at 4 years.Materials and...

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