Searchable abstracts of presentations at key conferences on calcified tissues

ba0005ht4 | (1) | ECTS2016

Vitamin D supplementation in pregnancy leads to greater bone mass in UK infants born during winter months: the MAVIDOS multicentre, randomised, double-blind, placebo-controlled trial

Cooper Cyrus , Harvey Nicholas , Bishop Nicholas , Kennedy Stephen , Papageorghiou Aris , Schoenmakers Inez , Fraser Robert , Gandhi Saurabh , D'Angelo Stefania , Crozier Sarah , Moon Rebecca , Arden Nigel , Dennison Elaine , Godfrey Keith , Inskip Hazel , Prentice Ann , Mughal Zulf , Eastell Richard , Reid David , Javaid Kassim

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 weeksÂ’ gestation, pregnant women with a serum 25-hydroxyvitamin D [25(OH)D] 25-100 nmol/l were randomised to either...

ba0002p163 | (1) | ICCBH2013

Phenotype–genotype correlation and role of ancillary investigations in atypical and rare forms of osteogenesis imperfecta

Balasubramanian Meena , Parker Michael , Bishop Nicholas J

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

ba0006p054 | (1) | ICCBH2017

The influence of immune dysregulation on bone metabolism in children with inflammatory bowel disease: the potential for bone as a secondary lymphoid organ

Penman Gareth , Campbell David , Pockley A. Graham , Bishop Nicholas

The influence of immune dysregulation on bone metabolism in children with inflammatory bowel disease: the potential for bone as a secondary lymphoid organ.Background: Whilst their clinical relevance in terms of fracture may be questioned, systemic inflammatory disorders in children impacts on their bone metabolism and reduces bone mineral density. Similar observations in adults are in part explained by interactions between lymphocytes and osteoclasts via...

ba0004p32 | (1) | ICCBH2015

Characteristics of Malawian children undergoing corrective bone surgeries of rickets-like lower limb deformities

Braithwaite Vickie S , Greenwood Carla L , Bishop Nicholas J , Cashman John , Prentice Ann

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...

ba0004p180 | (1) | ICCBH2015

Rare diseases of bones, joints and vessels study

Forestier-Zhang Lydia , Barrett Joe , Wordsworth Paul , Luqmani Raashid , Bishop Nicholas , Kassim Javaid Muhammad

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...

ba0007p216 | (1) | ICCBH2019

Dual diagnosis of autism and osteogenesis imperfecta: Case examples to illustrate the implications of dual diagnosis for enhanced outcomes for child and family

Jones Rebecca , Seasman Alison , Marr Caroline , Bishop Nicholas , Arundel Paul , Balasubramanian Meena , Team Metabolic Bone

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="...

ba0002oc1 | Epidemiology | ICCBH2013

The Amalgamated Paediatric Bone Density Study (The ALPHABET Study): the collation and generation of UK based reference data for paediatric bone densitometry

Crabtree Nicola , Machin Mike , Bebbington Natalie , Adams Judith , Ahmed Faisal , Arundel Paul , Bishop Nicholas , Fewtrell Mary , Hogler Wolgang , Mughal M Zulf , Rhodes Laura , Shaw Nicholas , Ward Kate

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

ba0006oc4 | (1) | ICCBH2017

25-hydroxyvitamin D response to antenatal cholecalciferol supplementation is associated with common vitamin D related genetic variants: findings from the MAVIDOS trial

Moon Rebecca , Harvey Nicholas , Cooper Cyrus , D'Angelo Stefania , Curtis Elizabeth , Crozier Sarah , Robinson Sian , Graham Nikki , Holloway John , Bishop Nicholas , Kennedy Stephen , Papageorghiou Aris , Schoenmakers Inez , Fraser Robert , Gandhi Saurabh , Prentice Ann , Inskip Hazel , Javaid Kassim

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...