Bone Abstracts

To point out common patterns of malalignment and deformity in hypophosphatemic rickets and describe treatment principles and techniques as well as common obstacles.Methods: Deformities of the lower limb in hypophosphatemic rickets do not resolve spontaneously under metabolic control of the disease. To prevent severe deformity and joint overload in the growing child guided growth has been shown to be effective in most cases. As recurrence of malalignment ...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Background: Vitamin D deficiency is highly prevalent and can be associated with adverse health outcomes. Few studies have evaluated the effects of daily consumption of milk fortified with a high dose of vitamin D in a large cohort of healthy postmenopausal women.Objectives: To determine the effect of daily intake of milk enriched with vitamin D (with or without fructooligosaccharides (FOS)) on vitamin D status, bone mass and cardiovascular risk factors.<...

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...

Odanacatib (ODN), a selective and reversible cathepsin K inhibitor was shown to histomorphometrically reduce trabecular (Tb) and intracortical (Ic) bone remodeling while preserving endocortical (Ec) and stimulating periosteal (Ps) bone formation (BF) in monkeys. Here, we investigate the bone site specific mechanism of ODN on bone modeling (Mo) versus remodeling (Re)-based osteons. Rhesus monkeys (13–19 yrs, n=8–11/group) were ovariectomized and treated with ...

Type 2 diabetes mellitus impairs bone quality and increases fracture risk. We showed that diabetic ZDF rats have low bone mass due to impaired osteoblastogenesis, which can be partially reversed with an intermittent parathyroid hormone 1–84 (PTH) therapy. It remains unclear, why PTH treatment does not fully restore osteoblast (OB) function in diabetic conditions. Here, we tested if high glucose (HG) conditions lead to a partial PTH resistance in osteoblasts. Pre-osteoblas...

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...

Objectives: The aim of this study was to assess the impact of age, sex, location of injury, physical activity, dietary intake of calcium and vitamin D on injury outcome in otherwise healthy children.Materials: This study was a cross-sectional prospective study. Children aged 6 to 15 years who presented to the Emergency Department of a single tertiary paediatric referral hospital were recruited. Children were included it they were known not to have underl...

Poor bone mineralization remains a major health problem in patients with Thal and has been linked to functional zinc deficiency despite adequate dietary intake. The global etiology of poor bone mineralization includes inadequate dietary intake of calcium and vitamin D, endocrinopathies leading to disturbed calcium homeostasis, dysregulation of the GH–IGF1 axis, and delayed puberty, all resulting in limited growth, decreased bone formation and increased bone resorption. Th...