Bone Abstracts

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Resultant low TNSALP leads to defective skeletal mineralization and diverse complications that may include poor growth, proximal muscle weakness, pain, and compromised physical function in children. Here, we describe the burden of HPP in patients <18 years old as assessed by two surveys specific to HPP symptomol...

We have reported femoral osteopenia in short term-vitamin D restricted rats without deterioration in tibial cortical bone volume (CBV), geometry or strength1. This study aimed to establish the effect of extended vitamin D deficiency in aged rat tibial volume and strength. Female Sprague-Dawley rats (9 m, n=6/group) were fed a diet containing varying vitamin D3 (D) levels (0, 2, 12, and 20 IU/day) with either low (0.1%, LCa) or high (1%, HCa) diet...

Low bone mass is common in thalassemia (Thal) and sickle cell disease (SCD). Bone pain is also reported, though its relationship to low bone mass has not been explored. The aims of this study were to determine the prevalence of vertebral height abnormalities (VHA) and evaluate the relationship between VHA, low bone mass and patient assessed pain in Thal and SCD. Data were collected from the Thalassemia Clinical Research Network Pain Survey study and CHRCO Clinical Bone Density...

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

Objective: Over the last decade, there has been increasing scientific interest in vitamin D, and it is now advised that all pregnant women and infants should receive vitamin D supplementation. Despite of this, it is recognized that knowledge of vitamin D in the general public is limited. The internet is now an important source of health care information and analysis of internet search activity rates can provide information on disease epidemiology, health related behaviors and ...

Objective: Public Health England recommends that children in the United Kingdom (UK) aged over 1 year should take a vitamin D supplement containing 400 IU/day. Commercially available children’s multivitamin and vitamin D supplements were surveyed to determine the vitamin D content.Methods: Multivitamins and vitamin D supplements marketed at children <12 years and sold by nine UK supermarkets and health supplement retailers were surveyed. The vit...

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

Objectives: An increased fracture risk is reported in children requiring recurrent courses of glucocorticoids. Reduced bone mineral density (BMD), particularly in the trabecular compartment, has also been demonstrated in a number of childhood diseases treated with glucocorticoids. The differential contribution of glucocorticoids and underlying inflammatory disease to bone demineralisation is poorly understood. Childhood nephrotic syndrome (NS) often follows a relapsing-remitti...

Turner syndrome (TS) is known to be associated with increased risk of osteoporosis and fracture. Childhood treatment with GH has been considered standard of care for treatment of growth failure in TS, while the influence of GH on bone health has been poorly understood. The purpose of this study is to assess the influence of GH on bone microarchitecture on a cohort of TS subjects.TS subjects aged 16–45 were included. Bone mineral density (BMD) was as...

Fractures are common in childhood, but multiple fractures during growth could indicate osteoporosis. Children with frequent fractures might benefit from further investigations for osteoporosis and as such, obtaining an accurate fracture history is important. The 2013 International Society for Clinical Densitometry Paediatric Osteoporosis Position Statement defined a clinically significant fracture history as two long bone fractures before age 10 years or three long bo...