Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p9 | (1) | ICCBH2013

A 6-month intervention study with vibration therapy in severely disabled children: effects on bone, biochemical markers and acceptance

Swolin-Eide Diana , Braathen Gunnar , Emilsson Roger , Glansen Ulla , Soderpalm Ann-Charlott , Magnusson Per , Zetterlund Bosse , Westerberg Barbro , Kilebrant Sophie

Objectives: To study acceptance and the effects on bone during a 6-month whole body vibration (WBV) therapy in severely disabled children.Methods: Nineteen patients, age 5–16 years, with severe motor disabilities completed the 6-month WBV therapy standing on a self-controlled dynamic platform with vibration, jumps and rotation. The WBV was performed twice per week at 40–42 Hz. Bone mass and biochemical markers were measured at start and after 6...

ba0001cu1.5 | Clinical Update 1 | ECTS2013

Glucocorticoid-Induced Osteoporosis

Cooper Cyrus

The ECTS and IOF have recently constructed a framework for the development of national guidelines for the management of glucocorticoid-induced osteoporosis in men and women aged 18 years and over in whom oral glucocorticoid therapy is considered for three months or longer. These review the epidemiology of GIO; assessment of risk utilises a fracture probability-based approach and intervention thresholds are based on 10 year probabilities using FRAX. National guidelines derived ...

ba0002is10 | The fracturing child: therapeutics | ICCBH2013

Medical therapies: present and future

Munns Craig

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

ba0002p76 | (1) | ICCBH2013

Final height and bone health in young adults, transplanted in childhood

Dyck Maria Van , Herman Jean , Lombaerts Rita

: This study analyses the long-term effect of rhGH on final height (FH) and bone health in renal transplanted patients.Twenty-one young adult patients, aged 17–26 years, were studied. Group A consisted of 15 patients (12 boys) who received rhGH during 3.0 years before transplantation. After transplantation three boys needed rhGH again for 3.5 years. In group B six patients (three boys) didn’t need rhGH before transplantation, three girls receiv...

ba0004p187 | (1) | ICCBH2015

TBS increases over time in pre-teen girls

Libber J , Winzenrieth R , Krueger D , Scarpella T , Binkley N

Muscle and loading force application alters bone structure and increases bone mineral density (BMD), particularly during growth. However, bone microarchitectural texture, as assessed by the trabecular bone score (TBS), changes during growth is unknown. We hypothesized that TBS would be positively correlated with growth and higher in growing girls participating in regular physical exercise.68 girls (mean age 12±0.3 years; BMI 18±2.8 kg/m2</...

ba0007p166 | (1) | ICCBH2019

The ketogenic diet and bone density: a retrospective longitudinal cohort study

Draaisma Jos , Hampsink Brieke , Willemsen Michel , Linders Miel , van Houdt Nicole

Background: The Ketogenic Diet Treatment (KDT) is a well-established intervention for intractable childhood epilepsy and the first choice treatment for Gluccose-1-transporter-deficiency-syndrome and Pyruvate-dehydrogenase-complex deficiency. During long-term follow up of children treated with KDT an increased incidence of bone fractures has been found. However, the exact contribution of KDT to a decreased BMD remains unclear. Prophylactic supplementation with calcium and vitam...

ba0007p177 | (1) | ICCBH2019

Feasibility of a 13-week targeted exercise intervention on tibial bone mineral density in adolescents with Developmental Coordination Disorder

Tan Jocelyn , Siafarikas Aris , Hands Beth , McIntyre Fleur , Hart Nicolas , Rantalainen Timo , Chivers Paola

Objectives: Adolescents with Developmental Coordination Disorder (DCD) have significantly lower bone mineral density (BMD) compared to their non-affected peers. Their difficulty in performing weight bearing movement skills is hypothesised to explain poorer bone characteristics. This feasibility study examined the impact of a 13-week exercise intervention on tibial bone parameters in adolescents with DCD.Methods: Twenty-eight adolescents with DCD particip...

ba0001pp268 | Genetics | ECTS2013

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

Boudin Eveline , Jennes Karen , de Freitas Fenna , Tegay David , Mortier Geert , Van Hul Wim

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signalling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. However, more recently the direct effect of LRP5 on osteoblasts and bone formation has...

ba0003oc4.1 | Genetics of bone disease | ECTS2014

PLS3 mutations in X-linked osteoporosis with fractures

Zillikens M Carola , van Dijk Fleur S , Micha Dimitra , Riessland Markus , Marcelis Carlo LM , de-Die Smulders Christine E , Milbradt Janine , Franken Anton A , Harsevoort Arjan J , Lichtenbelt Klaske D , van de Peppel J , Pruijs Hans E , Rubio-Gozalbo M Estela , Zwertbroek Rolf , Moutaouakil Youssef , Egthuijsen Jaqueline , van der Eerden B , Hammerschmidt Matthias , Bijman Renate , Semeins Cor M , Bakker Astrid D , Everts Vincent , Klein-Nulend Jenneke , Campos-Obando Natalia , Hofman Albert , te Meerman Gerard J , van Leeuwen JP , Verkerk Annemieke JMH , Uitterlinden Andre G , Maugeri Alessandra , Sistermans Erik A , Waisfisz Quinten , Meijers-Heijboer Hanne , Wirth Brunhilde , Simon Marleen EH , Pals Gerard

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

ba0004oc9 | (1) | ICCBH2015

Skeletal manifestations in pediatric WNT1 osteoporosis

Makitie Riikka , Pekkinen Minna , Laine Christine , Makitie Outi

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...