Searchable abstracts of presentations at key conferences on calcified tissues

ba0003oc4.6 | Genetics of bone disease | ECTS2014

Gout is associated with an excess risk of osteoporotic fracture: findings from a Danish registry

Dennison Elaine , Rubin Katrine H , Harvey Nick , Walker-Bone Karen E , Schwarz Peter , Cooper Cyrus , Abrahamsen Bo

Objective: Although metabolic syndrome is common in gout patients, recent reports that bone mineral density may actually be reduced (and falls common) in this group have led researchers to hypothesise that osteoporotic fracture may be more common in subjects with gout than in healthy controls. We tested this hypothesis in a national Danish registry.Material and Methods: We identified subjects as new users of allopurinol, a proxy for gout, for the years 1...

ba0003oc4.4 | Genetics of bone disease | ECTS2014

Variants in RIN3 predispose to Paget's disease of bone

Vallet Maheva , Sophocleous Antonia , Warner Jon , Morris Stewart W , Wilson James F , Albagha Omar ME , Ralston Stuart H

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...

ba0006p116 | (1) | ICCBH2017

Classical SATB2-associated syndrome with severe osteoporosis, recurrent bony fractures and tibial bowing

Jacobs Benjamin , Rose Anna M. , Zulf Mughal M. , Keen Richard , Wakeling Emma L.

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

ba0005p280 | Nutrition | ECTS2016

Effects of clinically relevant doses of vitamin A on bone in mice

Lionikaite Vikte , Gustafsson Karin , Westerlund Anna , Koskela Antti , Tukkanen Juha , Conaway H Herschel , Ohlsson Claes , Henning Petra , Lerner Ulf

Excess vitamin A has been associated with decreased cortical bone thickness and increased fracture risk. While most studies in rodents have been done using very high doses of vitamin A for a few days, we here investigate how clinically relevant doses of vitamin A, calculated from the Recommended Daily Allowance (RDA) in humans, affects the bone phenotype in mice after longer exposure.C57BL/6 mice were fed either a control diet (15 IU/g retinyl acetate), ...

ba0004p125 | (1) | ICCBH2015

Vitamin D status of gastrostomy-fed children with special needs

Kuter Hayley , Das Geeta , Mughal M Zulf

Background: Children with special needs may be greater risk of vitamin D deficiency due to decreased mobility and outdoor play, concomitant medications that increase catabolism of vitamin D, reduced nutritional intake and low body weight. Gastrostomy-fed children receiving a nutritionally complete formula may still be at risk of vitamin D deficiency due to the above factors.Objective: The objective of this study is to assess the vitamin D status of speci...

ba0005p130 | Cancer and bone: basic, translational and clinical | ECTS2016

Uptake of different nitrogen containing bisphosphonate formulations by breast cancer cells

Zlatev Hristo , Auriola Seppo , Monkkonen Jukka , Maatta Jorma

Nitrogen-containing bisphosphonates (N-BPs) are used to treat osteolytic bone metastases. N-BPs have been previously shown to enter macrophages via macropinocytosis, but the mechanisms how they are taken up by breast cancer cells are so far incompletely known. In breast cancer primary tumours N-BPs have been shown, by other researchers, to be bound to micro-calcifications present in the tumour stroma. In our study we have characterized how different N-BP formulations, free, ca...

ba0003pp407 | Paediatric bone disease | ECTS2014

Glucocorticoid-treated boys with Duchenne muscular dystrophy DMD and osteoporosis have higher bone matrix mineralization before and after i.v. bisphosphonate therapy

Roschger Paul , Misof Barbara M. , Klaushofer Klaus , Rauch Frank , Ward Leanne M

Duchenne muscular dystrophy (DMD) causes progressive muscle weakness and loss of ambulation. While glucocorticoid (GC) therapy improves motor function, many boys sustain fractures due to osteoporosis. Recently, i.v. bisphosphonate (i.v.BP) therapy has shown promise in the treatment of DMD-related osteoporosis. At the same time, bone histomorphometry revealed lowered bone volume and significant reductions in bone formation pre-i.v.BP treatment, and a further drop after 2 years&...

ba0003pp389 | Other diseases of bone and mineral metabolism | ECTS2014

Changing clinical profile of primary hyperparathyroidism in Indian patients

Mithal Ambrish , Kaur Parjeet , Bansal Beena , Mishra Sunil , Singh V P , Sarin Deepak

Background: Primary hyperparathyroidism (PHPT) has evolved into an asymptomatic disease in the west. In contrast classic symptoms of PHPT have been reported to be common in the East with as many as 80–100% of PHPT patients presenting with bone manifestations in India.Objective: To describe clinical and biochemical profile of patients diagnosed with PHPT between years 2009 and 2012.Methodology: This was a retrospective study co...

ba0007p77 | (1) | ICCBH2019

Long-term efficacy profile of asfotase alfa in the treatment of patients with hypophosphatasia: a pooled analysis

Hogler Wolfgang , Rockman-Greenberg Cheryl , Petryk Anna , Zhou Shanggen , Whyte Michael P , Bishop Nick

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved medical treatment for pediatric-onset hypophosphatasia (HPP), which is caused by deficient tissue-nonspecific alkaline phosphatase activity. We detail the long-term efficacy of AA observed from the pediatric clinical trial program.Methods: Efficacy data collected to study completion were pooled from 3 open-label, multicenter investigations of children who manifested HPP s...

ba0005oc6.2 | Development and differentiation (or Aging) | ECTS2016

Bone with uncleavable type I collagen C-propeptide has abnormal development of multiple bone cell populations and increased bone mineral density with age

Barnes Aileen M , Perosky Joseph E , Blouin Stephane , Rajpar M Helen , Khoury Basma , Klaushofer Klaus , Roschger Paul , Fratzl-Zelman Nadja , Kozloff Kenneth M , Marini Joan C

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....