hrp0089s7.2 | Bone | ESPE2018

Hypophosphatasia: Disease and Treatment

Bishop Nick

Hypophosphatasia affects both hard and soft tissues. Its manifestations may become apparent at any time from fetal life to old age and the range of its severity and presentation varies perhaps more than any other metabolic bone disease. With the advent of enzyme replacement therapy, children who would have died not only survive, but can also thrive. As follow-up of treated children continues, we are beginning to understand the potential for complications of treatment and co-mo...

hrp0082p1-d3-52 | Bone (1) | ESPE2014

Opposing Effects of Childhood Obesity on Radial and Tibial Bone Microstructure

Dimitri Paul , Jacques Richard , Paggiosi Margaret , King David , Walsh Jennifer , Bishop Nick , Eastell Richard

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

hrp0084lbp-1266 | Late Breaking Posters | ESPE2015

Determining the Effects of Race, Skin Colour, and Genotype on the Response to Vitamin D Therapy

Kothandapani Jaya Sujatha Gopal , Evans Lucy , Walsh Jennifer , Eastell Richard , Bishop Nick

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

hrp0086p1-p115 | Bone & Mineral Metabolism P1 | ESPE2016

A European Survey to Identify New Roads for Care, Training and Research Around Rare Metabolic Bone Diseases

Fernandez Isabelle , Ahmed Syed Faisal , Bishop Nick , Brandi Maria Luisa , Doulgeraki Artemis , Haeusler Gabriele , Hogler Wolfgang , Kostik Mikhail , Makitie Outi , Moreno Gabriel Martos , Nilsson Ola , Schnabel Dirk , Šumnik Zdenek , Tillmann Vallo , Turan Serap , Zillikens Carola , Linglart Agnes , on behalf of the European Metabolic Bone Network

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...