(1) | 0004 | ICCBH2015 | 7th International Conference on Children's Bone Health

ba0004p1 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p2 | (1) | ICCBH2015

The assessment of bone regulatory pathways in children with malignant bone tumors

Ambroszkiewicz Jadwiga , Gajewska Joanna , Chelchowska Magdalena , Rogowska Elzbieta , Rychlowska-Pruszynska Magdalena

Objectives: As the receptor activator of the nuclear factor κB (RANK)/receptor activator of the nuclear factor κB ligand (RANKL)/osteoprotegerin (OPG) cytokine system is essential for osteoclastogenesis and Wnt signaling pathway for osteoblastogenesis, we decided to assess these two main bone regulatory pathways in patients with malignant bone tumors on the completion of anticancer therapy.Methods: The study included 35 patients (median age 15....

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ba0004p3 | (1) | ICCBH2015

PHEX, DMP1 and FGF23 mutations in a Malaysian hypophosphatemic rickets patient

Razali Nurul Nadirah , Ting Tzer Hwu , Thilakavathy Karuppiah

Hypophosphatemic rickets (HR) is a type of bone disorder that causes skeletal deformities due to reduced renal phosphate reabsorption that affect bone mineralisation. Defect on PHEX, DMP1 and FGF23 causes x-linked dominant, autosomal recessive and autosomal dominant HR respectively. The aim of this study was to identify the underlying genetic mutations in PHEX, DMP1 and FGF23 in a 15-year-old female who exhibits the clinica...

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ba0004p4 | (1) | ICCBH2015

Bone turnover markers and bone mineral density after 12-month weight loss therapy in obese children

Gajewska Joanna , Klemarczyk Witold , Ambroszkiewicz Jadwiga , Chelchowska Magdalena , Weker Halina

Objectives: Weight loss therapy is the principal non-pharmacological method for prevention and treatment of simple obesity in childhood. This intervention may influence bone metabolism in children, but this phenomenon is not well understood. The aim of this study was to assess the changes in body composition and in the profile of bone markers after weight loss in obese prepubertal children.Methods: We determined serum BALP (bone alkaline phosphatase), CT...

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ba0004p5 | (1) | ICCBH2015

Vitamin D and decreased bone density in children

Bazarra-Fernandez Antonio

Aim: Determining level of vitamin D and other conditions in children with osteoporosis.Methodology: Bibliography review in a worldwide basis about the issue and what we have observed.Outcome: We studied the level of 25OHD3 in all patients with osteoporosis and osteopenia. 25OHD3 95% deficit was found in these patients when reduced bone mass occurs. There are several disorders for hypocalcemia. Intestinal malabsorption syndromes, re...

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ba0004p6 | (1) | ICCBH2015

Bisphosphonate treatment of melorheostosis: A case report

Akinci Aysehan , Dundar Ismail Dundar , Sigirci Ahmet

Background: Melorheostosis also known as Leris disease or flowing periostal hyperostosis is a rare nonfamilial sclerosing bony dysplasia of poorly understood etiology. It is characterised by soft Tissue contractures with overlying slowly evolving linear hyperostosis. Radiographic findings are helpful in the diagnosis, these consist of irregular hyperostosis extending along the length of one side of the long bone, resembling flowing candle wax. Treatment is mainly symptom...

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ba0004p7 | (1) | ICCBH2015

History of meconium ileus affects bone health and body composition in young patients with cystic fibrosis

Doulgeraki Artemis , Petrocheilou Argyri , Chrousos George , Petrocheilou Glykeria , Monopolis Ioannis , Doudounakis Stavros-Eleftherios , Kaditis Athanasios

Objective: Growth of patients with cystic fibrosis (CF) and meconium ileus is frequently compromised. The aim of this prospective study was to evaluate body composition in this particular group of patients. We hypothesized that history of meconium ileus could predict suboptimal growth, bone, muscle and fat mass, irrespective of other prognostic factors for CF.Methods: CF subjects were investigated over a 3-year period. Their medical records were reviewed...

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ba0004p8 | (1) | ICCBH2015

Body composition profile of patients with Duchenne muscular dystrophy living in a country with the obesity epidemic

Doulgeraki Artemis , Katsalouli Marina , Petrocheilou Glykeria , Paspati Ioanna , Athanasopoulou Helen , Monopolis Ioannis

Objectives: To evaluate bone health and body composition in Greek patients with Duchenne muscular dystrophy (DMD), hypothesizing that prepubertal patients would not be fatter than controls, given the Greek obesity epidemic. Greece ranks among the first countries in overweight and obesity prevalence globally; 30 and 13% of childhood population respectively.Methods: Cross-sectional study, conducted at the Greek Institute of Child Health (Athens) over a 2-y...

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ba0004p9 | (1) | ICCBH2015

Vitamin D supplementation can improve velocity of growth in children with vitamin D deficiency which are in treatment with RHGH for growth hormone deficiency

Galesanu Corina , Grozavu Ilinka , Alexandru Florescu A

Objectives: The correlation between vitamin D and GHIGF1 axis is documented. Growing children, need extra Vit-D because it is required for growth. Severe deficiency in Vit-D generates poor growth. Height is usually more affected. Growth hormone (GH) deficiency in children causes severe growth retardation, Vit-D deficiency, and osteopenia. The aim of this presentation was: 1. To evaluate the Vit-D blood level to children in substitution treatment with rhGH. 2. To see if t...

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ba0004p10 | (1) | ICCBH2015

Infantile Blount's disease: histopathologic changes in the proximal tibial metaphysis -- comparison between medial and lateral specimens

Hollman Freek , Vroemen Pascal , Rompa Paul , Moh Prosper , van Rhijn Lodewijk , Weltink Tim , Staal Heleen

Only minor literature on histopathologic changes in Blounts disease is available. This study presents the histologic findings of biopsies harvested from the medial and lateral part of the proximal tibia during the W/M serrated osteotomy in patients with infantile Blounts disease, performed in Ghana. In this study it is hypothesized that the medial metaphyseal area in these children will present a different histological morphology compared to the lateral metaphyseal...

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ba0004p11 | (1) | ICCBH2015

Effects of bisphosphonate for the development of scoliosis in children with osteogenesis imperfecta

Kashii Masafumi , Kanayama Sadaaki , Kitaoka Taichi , Makino Takahiro , Kaito Takashi , Kubota Takuo , Namba Noriyuki , Yamamoto Takehisa , Ozono Keiichi , Yoshikawa Hideki

Backgrounds: Osteogenesis imperfecta (OI) is an inherited bone disease caused by qualitative or quantitative defects in type I collagen, and is characterized by bone fragility and ligamentous laxity. Spine disorder is an important symptom in children with OI, and respiratory difficulties secondary to spinal disorder were identified as a main cause of death in these patients. Reduced fracture rates and prevention of long-bone deformities have been reported in children with OI w...

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ba0004p12 | (1) | ICCBH2015

Elevated plasma c-terminal fibroblast growth factor, but not intact FGF23 or soluble Klotho, is associated with left ventricular hypertrophy in pediatric chronic hemodialysis patients

Shah Shweta , Brewer Eileen , Srivaths Poyyapakkam

Background: Cardiovascular disease is the leading cause of death in pediatric (ped) and adult ESRD patients. Left ventricular hypertrophy (LVH) is an independent predictor of mortality in ESRD. Besides traditional risk factors, such as high BP & fluid overload, high plasma FGF23 is associated with LVH in adult ESRD patients. Little is known about Kl, the renally produced cofactor of FGF23 for phosphorus (P) homeostasis. We studied ped HD patients for risk factors for LVH, ...

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ba0004p13 | (1) | ICCBH2015

Galactosyltransferase-1 deficiency: a novel cause of bone fragility due to impaired proteoglycan synthesis

Moon Rebecca , Salter Claire , Foulds Nicola , Davies Justin

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...

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ba0004p14 | (1) | ICCBH2015

Accuracy of parental recall of children's lifetime fracture prevalence: implications for investigation of childhood osteoporosis

Moon Rebecca , Lim Adelynn , Farmer Megan , Segaran Avinash , Clarke Nicolas , Davies Justin

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...

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ba0004p15 | (1) | ICCBH2015

Fibrous dysplasia in McCune Albright syndrome; treatment and follow up

Gokeen Damla , Ozen Samim , Ozcan Nurhan , Darcan Sukran

Aim: To evaluate the effect of bisphosphonate treatment in children with McCune Albright syndrome (MAS).Materials and methods: Six MAS patients diagnosed between 19982012 with bone pain, bone fracture and bone deformity were evaluated retrospectively. Main outcome measures included disease presentation, diagnostic evaluation, management strategy, and outcome.Results: The mean age of the patients were 16.5±8.2 years (four...

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ba0004p16 | (1) | ICCBH2015

Genotype in patients with osteogenesis imperfecta using a targeted exome sequencing: correlation with phenotype

Kubota Takuo , Ohata Yasuhisa , Bizaoui-Auffret Varoona , Nawa Nobutoshi , Nakayama Hirofumi , Yamamoto Keiko , Fujiwara Makoto , Kitaoka Taichi , Takakuwa Satoshi , Namba Noriyuki , Ozono Keiichi

Objectives: Osteogenesis imperfecta (OI) is a relatively common skeletal dysplasia characterized by bone fragility, mainly resulting from mutations in the COL1A1 and COL1A2 genes. Phenotypegenotype correlation is not fully uncovered in OI. Additionally, more than ten genes have been found to be responsible for OI. In the current study, we determine mutations in patients with OI using a targeted exome sequencing and examine a phenotypegenotype correlation.<p cla...

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ba0004p17 | (1) | ICCBH2015

MRI features as surrogate markers of X-linked hypophosphatemic rickets activity

Lempicki Marta , Rothenbuhler Anya , Merzoug Valerie , Franchi-Abella Stephanie , Chaussain Catherine , Linglart Agnes , Adamsbaum Catherine

Background and objectives: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. The treatment of rickets is monitored via laboratory tests such as alkaline phosphatase (ALP), clinical features, and plain X-rays. The objectives of this study were to describe the MRI features in XLH and to look for correlations between those features and XLH activity.Study design: Twenty-seven patients (younger than 18 years with XLH due ...

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ba0004p18 | (1) | ICCBH2015

A novel mutation in CYP24A1 gene in an infant with severe hypercalcemia and unique neurological presentation

Levy-Shraga Yael , Pinhas-Hamiel Orit , Dinour Dganit , Modan-Moses Dalit

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe an infant with IHH due to a novel CYP24A1 mutation and a unique neurological presentation.Case presentation: The patient was born at term after normal pregnancy to healthy non-cons...

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ba0004p19 | (1) | ICCBH2015

The role of body composition in the relationship between lifestyle factors and bone parameters of young children

Sioen Isabelle , Solis-Trapala Ivonne , De Schepper Jean , Roggen Inge , Goemaere Stefan , De Henauw Stefaan , Ward Kate

Objectives: Maximising peak bone mass (PBM) during growth is an essential part in the prevention of fractures and osteoporosis later in life. Two of the most important modifiable factors influencing PBM are diet and physical activity (PA). These factors can have either a direct or indirect effect on bone. For example, increasing PA would increase loads directly to the bone or cause muscle changes which would drive changes in bone. This study aimed to assess whether there was a...

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ba0004p20 | (1) | ICCBH2015

Bone mineral density in patients with autosomal recessive osteopetrosis after hematopoietic cell transplantation

Petryk Anna , Polgreen Lynda E , Dengel Donald R , Defor Todd E , Orchard Paul

Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...

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ba0004p21 | (1) | ICCBH2015

Efficacy of GH therapy in short patients affected hypochondroplasia

Nakano Yukako , Harada Daisuke , Kashiwagi Hiroko , Seino Yoshiki

Since 1997, GH therapy has been approved for skeletal disorders including ACH and HCH patients in Japan. The efficacy of GH therapy for short period has been reported in several study. However, few study about efficacy and safety of GH therapy for long term have been shown. The aim of our study is to examine that GH therapy for HCH patients is efficient and safe enough and improve final height and proportion.18HCH patients (11 males and seven females) wh...

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ba0004p22 | (1) | ICCBH2015

Racing to better bone health! A 6-month calcium and vitamin D randomised controlled trial in young male jockeys

Silk Leslie , Greene David , Baker Michael

Objectives: Young male jockeys undertake calorie restriction and high volumes of physical activity during periods of musculoskeletal growth and development. Previous research shows that jockeys have compromised bone health14 and display disordered eating57. Restricted intakes of calcium and vitamin D, together with excessive amounts of exercise, increase the risk of osteoporosis in males8. The aim of this study was to establish whet...

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ba0004p23 | (1) | ICCBH2015

Relationship of IGF1 and bone parameters in 7--16 year old apparently healthy Indian children

Kajale Neha , Ekbote Veena , Palande Sonal , Shilvant Dhanashri , Mandlik Rubina , Khadilkar Vaman , Mughal Zulf , Khadilkar Anuradha

Objective: GH through IGF1 plays an important role in both bone growth and mineralization. This cross-sectional study was carried out to evaluate the relationship between serum IGF1 concentrations and dual energy X-ray (DXA) measured total body less head (TB) bone area (BA), lean body mass (LBM) and bone mineral content (BMC).Methods: One hundred and nineteen children (B=70, age =7.315.6 years) were studied for their anthropometric paramet...

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ba0004p24 | (1) | ICCBH2015

Bone status of Indian children and adolescents with type 1 diabetes mellitus

Mandlik Rubina , Parthasarathy Lavanya , Khadilkar Vaman , Chiplonkar Shashi , Phanse-Gupte Supriya , Kajale Neha , Mughal Zulf , Khadilkar Anuradha

Objective: Aim was to cross sectionally study bone health parameters assessed by DEXA and serum IGF1 concentrations in 616 year old children with type 1 diabetes. We hypothesized that height and bone parameters would be impaired in diabetic children compared with contemporary reference population.Method: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA (n=170, 77 boys). Z-scores for TBBM...

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ba0004p25 | (1) | ICCBH2015

Sitting time has a stronger effect on bone than moderate plus vigorous activity

Binkley Teresa , Weidauer Lee , Specker Bonny

Objective: The use of high-impact weight bearing physical activities has been accepted as a means to increase osteogenic effects on bone. Studies in adolescents found that physical activity could counteract the detrimental effects on bone associated with television time in boys and time spent studying in girls. Our aim was to test the effects of the percent of time spent in moderate plus vigorous activities (ModVig) and sitting (SIT) on bone health. We hypothesized that high M...

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ba0004p26 | (1) | ICCBH2015

Effects of running bike use on bone quality in non-ambulant children with cerebral palsy: a pilot study

Bryant Elizabeth , Cowan Donna , Walker-Bone Karen

Children with cerebral palsy who are unable to walk independently are prone to lower limb muscle weakness which contributes to pain, deformity and functional loss. As a result of these motor difficulties the children are less physically active than their unimpaired peers and subsequently at greater risk of reduced bone density. This pilot study introduced a novel mobility device, running bikes, to a group of non-ambulant children with cerebral palsy to investigate if it was a ...

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ba0004p27 | (1) | ICCBH2015

Bone mineral density and clinical outcome after intravenous bisphosphonate discontinuation in children with osteogenesis imperfecta

Bowden Sasigarn , Heksch Ryan , Hickey Scott , Mahan John

Objectives: i) To evaluate the bone mineral density (BMD), and clinical outcomes of intravenous bisphosphonate treatment (IVT) and after treatment discontinuation in children with osteogenesis imperfecta (OI). ii) To compare the clinical outcome of those who discontinued IVT and those who had progressed from IVT to maintenance oral bisphosphonate therapy.Methods: A retrospective study was conducted on 28 children with OI who had discontinued IVT (21 pami...

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ba0004p28 | (1) | ICCBH2015

Year-round cord blood vitamin D concentrations in women from diverse ethnical backgrounds in a Mediterranean area in Spain

Guagnelli Miguel Angel , Yeste Diego , Ferrer Roser , Comas Inmaculada , Carrascosa Antonio

Background: Vitamin D (Vit-D) plays a role in calcium metabolism during pregnancy, and studies have found widespread deficiency in this period. Its significance is still not fully understood, although low Vit-D levels have been associated with increased risk for preeclampsia, bacterial vaginosis, neonatal sepsis and early respiratory infections in the infant. Supplementation to the pregnant mother remains a matter of debate; thus, it is important to better understand the cause...

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ba0004p29 | (1) | ICCBH2015

Type 1 diabetes mellitus may predispose to lower bone mineral density through lower osteoblast signaling from increased levels of Dickkopf-1

Doulgeraki Artemis , Tsentidis Charalampos , Gourgiotis Dimitrios , Kossiva Lydia , Marmarinos Antonios , Karavanaki Kyriaki

Background: Several bone metabolic pathways are disrupted in diabetes mellitus (DM), leading to reduced bone mass. Increased fracture risk and elevated Dickkopf-1, which is an inhibitor of the Wnt/b-catenin bone metabolic pathway, have been documented in adult patients with type 2 DM. No relevant data exist on childhood type 1 DM (T1DM).Objective and hypotheses: We aimed at studying plasma Dickkopf-1 concentration in children and adolescents with T1DM an...

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ba0004p30 | (1) | ICCBH2015

Whole-body MR imaging as diagnostic tool in children with hereditary multiple osteochondromas

Staal Heleen , Dremmen Marjolein , Robben Simon , Witlox Adhiambo , van Rhijn Lodewijk

Patients with hereditary multiple osteochondromas (HMO) undergo frequent X-rays to evaluate the growth of the osteochondromas. The conventional radiographs show clear images of the growth of the bony part of the osteochondromas and of the growth direction of the long bones. However the cartilage cap on the osteochondroma nor the cartilage of the nearby epiphysis or the surrounding soft tissue of the osteochondromas is shown. Besides these disadvantages taking frequent radiogra...

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ba0004p31 | (1) | ICCBH2015

Mineral metabolism in children with autosomal dominant polycystic kidney disease

De Rechter Stephanie , Bacchetta Justine , Dubourg Laurence , Cochat Pierre , Van Dyck Mieke , Evenepoel Pieter , Levtchenko Elena , Mekahli Djalila

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

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ba0004p32 | (1) | ICCBH2015

Characteristics of Malawian children undergoing corrective bone surgeries of rickets-like lower limb deformities

Braithwaite Vickie S , Greenwood Carla L , Bishop Nicholas J , Cashman John , Prentice Ann

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...

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ba0004p33 | (1) | ICCBH2015

In utero effects of iron status on infant fibroblast growth factor-23 and mineral metabolism

Braithwaite Vickie S , Prentice Ann , Darboe Momodou K , Prentice Andrew M , Moore Sophie E

Fibroblast growth factor-23 (FGF23) is a bone derived phosphate-regulating hormone which is elevated in hypophosphataemic rickets. Recent findings demonstrate iron deficiency as a potential mediator of FGF23 expression and murine studies have shown in utero effects of maternal iron deficiency leading to increased FGF23 concentration and disordered bone development (Clinkenbeard. JBMR 2013). Children with rickets in rural Gambia, West Africa, have high prevalences of i...

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ba0004p34 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p35 | (1) | ICCBH2015

Spinal muscular atrophy: another non-ambulatory population at risk for low bone mineral density

Kecskemethy Heidi , Bachrach Steven , Harcke H Theodore

In children with spinal muscular atrophy (SMA): i) describe bone mineral density (BMD) measured by dual-energy x-ray absorptiometry (DXA); ii) examine bone health factors; iii) examine change in BMD over time and pamidronate effect.DXA results, medications, ambulation, 25-OH-Vit D levels, and fracture history were retrospectively reviewed in 14 children (five girls) with SMA. Sites scanned included whole body (WB), lumbar spine (LS), and lateral distal f...

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ba0004p36 | (1) | ICCBH2015

Bone mineral density, pubertal status and ability to walk are associated to fracture incidence in patients with Rett syndrome

Rothenbuhler Anya , Esterle Laure , Lahlou Najiba , Bienvenu Thierry , Bahi-Buisson Nadia , Linglart Agnes

Rett (RTT) syndrome is a neurodevelopmental disorder that affects girls almost exclusively. The majority are related to mutations in the MECP2 gene.Patients with RTT syndrome have a high incidence of fractures that can occur at a young age. One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.89 RTT patients bearing a MECP2 mutation who had no...

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ba0004p37 | (1) | ICCBH2015

Teriparatide following bisphosphonates in the treatment of osteoporosis in post-pubertal teenagers

Alon Uri , Monachino Penny

Background: Treatment of osteoporosis with bisphosphonates may result in severe suppression of bone turnover leading to adynamic bone disease. Teriparatide is now commonly used as an anabolic agent in adults with osteoporosis, and has the potential to reverse the effect of bisphosphonates. However its use in pediatrics is restricted to those with closed growth plates and information regarding its effect in this age group limited.Objective: To study the e...

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ba0004p38 | (1) | ICCBH2015

Serum 25-vitamin D level is lower in African American compared to Caucasian children

Srivastava Tarak , Sebestyen Judith , Alon Uri

Background and Objective: Serum 25-Vitamin D level (S-VitD) was recently reported to be significantly lower in African American (AA) adults compared with their Caucasian (CS) counterparts, despite having a higher bone mineral density, due to lower serum vitamin D-binding protein (NEJM 2013; 369: 1991). The objective of this study was to examine if this observation holds true in Hispanic and AA children.Material and methods: The database of clinical labor...

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ba0004p39 | (1) | ICCBH2015

Fracture and bone mineral density outcomes after bisphosphonate discontinuation in children with osteogenesis imperfecta treated with zoledronic acid compared to pamidronate

Heksch Ryan , Bowden Sasigarn , Hickey Scott , Mahan John

Objectives: Cyclical intravenous pamidronate (PAM) and zoledronic acid (ZOL) increases bone mineral density (BMD) and reduces fractures in children with osteogenesis imperfecta (OI). The aims of this study were to evaluate fracture and BMD outcomes after treatment discontinuation in children with OI treated with ZOL compared to PAM.Methods: 21 patients (mean age 5.1±3.8 years) received PAM (1 mg/kg per day x 3 days q 3 months for the first year). Se...

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ba0004p40 | (1) | ICCBH2015

Painful hip in 19-months old represents an intertrochanteric fracture following a low energy injury

Peev Peter , Obretenov Vasil

Hip fractures in children are extremely rare and account for less than 1% of all fractures in children. Most orthopaedic surgeons will treat only a few such fractures in a lifetime. They are associated with high complication rate because the vascular and osseous anatomy of the childs proximal femur is vulnerable to injury. Knowledge of the blood supply to the immature proximal femoral epiphysis is necessary to adequately manage these injuries. Hip pain in children is a d...

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ba0004p41 | (1) | ICCBH2015

Percutaneously performed image-guided radiofrequency ablation for the treatment of a unifocal eosinophilic granuloma of the femur in a 16-year-old boy

Papavasiliou Kyriakos , Bintoudi Antonia , Karanassos Marinos , Vlaxodimos Apostolos , Pellios Stavros , Tsitouridis Ioannis , Kirkos John

Background: Eosinophilic granuloma (EG) typically affects children in the first two decades of life, mainly involving vertebrae and long bones. This study presents the first to the best of our knowledge - case of a unifocal EG of the femur, successfully treated with percutaneous image-guided radiofrequency ablation (RFA), which was monitored pre- and post-ablation with MRI-scans to validate the efficacy of this method.Presenting problem: A 16-year-...

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ba0004p42 | (1) | ICCBH2015

Levels of vitamin D according to severity of motor function disorder and the level of bone mineral density in children with cerebral palsy

Zvekic-Svorcan Jelena , Nenadov Natasa , Krasnik Rastislava , Mikov Aleksandra , Vulovic Mirela , Demesi-Drljan Cila , Bekic Vera

Objective: To establish the difference between deficiency, insufficiency and normal results of vitamin D according to severity of motor function disorder and the level of bone mineral density in children with cerebral palsy.Methods: Investigation encompassed 23 children, both genders, between 6 and 17 years of age, with diagnosed cerebral palsy, who were hospitalized between January 1 and December 31, 2014. Bone mineral density (BMD) was established usin...

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ba0004p43 | (1) | ICCBH2015

Efect of nutritional status on bone density in children with cerebral palsy

Krasnik Rastislava , Zvekic-Svorcan Jelena , Nenadov Natasa , Mikov Aleksandra , Demesi-Drljan Cila , Vulovic Mirela , Bekic Vera

Objective: The aim of the study was to establish effect of nutritional status on bone mineral density in children with cerebral palsy.Methods: The nutritional status was established in 23 children, both genders, with cerebral palsy, who were hospitalized at the Clinic for children habilitation and rehabilitation and at the, Veternik Home, between January 1 and December 31, 2014. Evaluation of nutritional status has been done based on BMI. BMI...

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ba0004p44 | (1) | ICCBH2015

Closed image-guided vs open biopsies in children with bone lesions: a retrospective review of 112 biopsies performed on 104 patients

Papavasiliou Kyriakos , Bintoudi Antonia , Fontalis Andreas , Karanassos Marinos , Pellios Stavros , Tsitouridis Ioannis , Kirkos John

Introduction: Biopsy is a milestone in the diagnosis and treatment of skeletal lesions. Closed core-needle biopsy under computed tomography (CT) guidance is the gold standard. Open biopsy on the other hand may lead to more secure diagnosis.Objectives: Aim of this retrospective case-series study was the review of all biopsies (closed and open) performed at our department during the last eleven years in children suffering from bone tumours and the evaluati...

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ba0004p45 | (1) | ICCBH2015

Skeletal dysplasia with short stature and a Larsen-like phenotype due to a homozygous mutation in B3GAT3

Steichen-Gersdorf Elisabeth , Laccone Franco

Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndromelike phenotypes.We report on a girl with disproportionate short stature and joint laxity with pes planus and radial head dislocation. She was previously a...

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ba0004p46 | (1) | ICCBH2015

Evaluation of the use of a dynamic elastomeric fabric orthosis to improve truncal stability in a young child with osteogenesis imperfecta

Edwards Karen , Hupin Emilie , Cheung Moira , DeVile Catherine

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in th...

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ba0004p47 | (1) | ICCBH2015

Ethnic and gender differences in metacarpal dimensions in black and white South African children from pre-puberty through adolescence

Magan Ansuyah , Micklesfield Lisa , Norris Shane , Pettifor John

Bone accrual and the attainment of peak bone mass influence an individuals predisposition to fracture or osteoporosis later in life. The developmental tempo and the movement of the periosteal and endosteal surfaces of the appendicular skeleton during growth result in variations in bone mineral content and density. During puberty the differential in peak height and peak bone mass accretion negatively influence bone strength. A surrogate measure of bone strength is the met...

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ba0004p48 | (1) | ICCBH2015

Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa

Cheung Moira , Bozorgi Niloofar , Mellerio Jemima , Fewtrell Mary , Allgrove Jeremy , Brain Caroline , Martinez Anna

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

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ba0004p49 | (1) | ICCBH2015

Using high-resolution peripheral quantitative computed tomography (HRpQCT) to better understand the skeletal response to exercise

Edwards Lauren , Skerry Tim , Paggiosi Margaret , Offiah Amaka

To use HRpQCT to investigate the effects of short term but intense exercise on the bone architecture of the distal radius in exercise-naïve women, with the ultimate aim of developing exercise regimes for children that will maximise their peak bone mass.We have recruited 16 of 20 proposed exercise-naïve women, aged 1825, for a 12-week exercise study. The exercise consists of supervised hammering of a metal plate, using their dominant arm, ...

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ba0004p50 | (1) | ICCBH2015

‘Double trouble': Duchenne muscular dystrophy and osteogenesis imperfecta in one patient -- a case report

Bayer Milan , Taslerova Renata , Mrazova Lenka , Fajkusova Lenka , Oslejskova Hana

Background: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness leading to loss of mobility, cardiomyopathy, and respiratory insufficiency. Typical initial manifestation in boys (X-linked disorder) comprises proximal muscle weakness and calf hypertrophy. Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Fractures rise from little or no apparent trauma.<p class="abstext...

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ba0004p51 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p52 | (1) | ICCBH2015

Association of dietary calcium intake and body fat with hypertension in Indian adolescents

Kajale Neha , Ekbote Veena , Khadilkar Vaman , Mughal Zulf , Chiplonkar Shashi , Khadilkar Anuradha

Objective: Low dietary calcium intakes and increasing adiposity in Indian adolescents may increase their risk of hypertension (Sanwalka et al., Asia Pac J Clin Nutr. 2010, Khadilkar et al., Int J Pediatr Obes. 2010). Therefore, the aim of the present study was to explore association of dietary calcium intakes and body composition with blood pressure in 1014 year old Indian adolescents.Method: 370 apparently healt...

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ba0004p53 | (1) | ICCBH2015

Somatic COL1A1 mosaicism in a newborn with osteogenesis imperfecta

Bou-Torrent Rosa , Iglesias Estibaliz , Gimenez-Roca Clara , Mensa-Vilaro Anna , Yague Jordi , Anton Jordi , Arostegui Juan I , Gonzalez-Roca Eva

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and low bone mass. The different types of OI may be distinguished by their clinical features and the causative genes, with COL1A1 and COL1A2 genes as the most frequent. The guidelines for OI genetic diagnosis first recommends the screening of COL1A1 and COL1A2 genes using Sanger sequencing. However, this method has li...

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ba0004p54 | (1) | ICCBH2015

Vitamin D overdose: Poor dosage guidelines for babies?

Peeva Daniela , Jacobs Benjamin

Background: A 9-month-old boy was diagnosed with rickets at the age of 6 months. He was born at term in India, following a normal pregnancy. Mother had taken folic acid and calcium, but not vitamin D, as this is the policy for pregnancy vitamins in Kerala.Presenting problems: At 6 months of age he was seen for routine vaccination. The paediatrician noted a prominent forehead and swollen wrists. Wrist x-ray was said to show early rickets. Blood tests show...

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ba0004p55 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p56 | (1) | ICCBH2015

Abnormal functional responses of osteoblasts to leptin in adolescent idiopathic scoliosis

Tam Elisa Man Shan , Wang Zhiwei , Lee Wayne , Tang Shengping , Kar-Hing Yeung , Tsz-Ping Lam , Ng Bobby Kin Wah , Cheng Jack Chun Yiu

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional structural deformity of the spine and its etiology remains unknown. Girls with AIS have taller stature, longer arm span, lower BMI, and generalized osteopenia. Leptin has been postulated as one of the etiologic factors of AIS because of its important physiological functions in neuro-osseous development affecting skeletal growth, bone metabolism, energy expenditure and body composition. Previous st...

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ba0004p57 | (1) | ICCBH2015

Fractures in infants -- a population-based study over 15 years in Helsinki, Finland

Ryhanen Hilkka , Toiviainen-Salo Sanna , Tupola Sarimari , Makitie Outi , Kallio Pentti E , Mayranpaa Mervi

Objectives: Fractures are common in older children. There are only few population-based studies on fractures in infants. Child abuse is a possible trauma mechanism, especially in younger children. New national guidelines for increasing awareness of child abuse and screening for suspected non-accidental traumas in Finland were given in 2003. Our goal was to establish fracture incidence and epidemiologic fracture patterns in children under the age of 1 year.<p class="abstext...

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ba0004p58 | (1) | ICCBH2015

Music therapy as an avenue to promote healthy eating, exercise and bone health in children

Satoko Mori-Inoue , Ilich Jasminka Z

Objectives: The obesity in children and adolescents is in an exponential rise, particularly in the United States. New research indicates that high adiposity could be detrimental for both bone and muscle, via fat infiltration in those tissues, leading to the osteosarcopenic obesity1. Therefore, healthy weight in children is crucial for bones and muscles. Our objective was to develop a music therapy program to improve childrens dietary and exercise habi...

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ba0004p59 | (1) | ICCBH2015

Vibration treatment can enhance the bioactive response of osteoblasts to vitamin D in adolescent idiopathic scoliosis patients

Zhang Jiajun , Lee WayneY W , Shi Benlong , Tam Elisa M S , Chen Huanxiong , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y , Lam Tsz Ping

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

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ba0004p60 | (1) | ICCBH2015

Comparing two scanning protocols for high-resolution peripheral quantitative computed tomography for bone quality assessment in young subjects

Cheuk Ka Yee , Zhang Jiajun , Tsang Echo , Yu Fiona , Hung Vivian , Tam Elisa M S , Lam Tsz Ping , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y

Objectives: High resolution peripheral quantitative computed tomography (HR-pQCT) was used to evaluate bone quality and volumetric bone mineral density (vBMD). However, manufacturers only provide a standard protocol for adult but not for growing subjects. The aim of this study was to investigate the difference on measurement between two different HR-pQCT scanning protocols in adolescence with unfused growth plate.Methods: 27 boys and 26 girls aged 13&#15...

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ba0004p61 | (1) | ICCBH2015

Association of vitamin D concentrations with 7-Dehydrocholesterol Reductase in school children in a sun-rich, semi-rural setting in Western Maharashtra, India

Mandlik Rubina , Kajale Neha , Chiplonkar Shashi , Patwardhan Vivek , Ekbote Veena , Khadilkar Vaman , Mughal Zulf , Khadilkar Anuradha

Objectives: Studies have reported prevalence of vitamin D deficiency in Indian children with adequate sunlight exposure (Harinarayan, 2008). The objectives of our study were to A) examine the prevalence of vitamin D deficiency in children with adequate sunlight exposure in a semi-rural setting in Western Maharashtra (18(°N), India and B) explore the association of serum 7-Dehydrocholesterol reductase (7-DHCR) with the serum vitamin D levels.Methods:...

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ba0004p62 | (1) | ICCBH2015

Association of dental and skeletal fluorosis with calcium intake and vitamin D concentrations in adolescents from a region endemic for fluorosis

Kajale Neha , Patel Prerna , Patel Pinal , Patel Ashish , Yagnik Bhrugu , Mandlik Rubina , Patwardhan Vivek , Khadilkar Vaman , Chiplonkar Shashi , Mughal Zulf , Joshi Priscilla , Phanse-Gupte Supriya , Khadilkar Anuradha

Objective: Patan, is a semi urban area in Gujarat, India where fluorosis is endemic (Fluoride concentration in ground water 1.9610.85 ppm, Patel et al., 2008). Exposure to fluoride is likely to be higher in lower socio-economic class (SEC) due to lack of access to bottled water. Calcium intake and vitamin D status may modify fluorine absorption. Therefore, the aims of this study were to examine: i) prevalence of dental and skeletal fluorosis in children from upper, middl...

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ba0004p63 | (1) | ICCBH2015

Dietary calcium intake influences the relationship between serum 25 hydroxyvitamin D concentrations and Parathyroid hormone

Mandlik Rubina , Patel Prerna , Patel Pinal , Patel Ashish , Phanse-Gupte Supriya , Kajale Neha , Khadikar Vaman , Chiplonkar Shashi , Patwardhan Vivek , Mughal Zulf , Khadilkar Anuradha

Objectives: Previous studies have reported that the rise in parathyroid hormone (PTH) concentrations may be used to determine the levels of vitamin D adequacy. However, dietary calcium intake may also influence the rise in PTH. In the light of low calcium intakes in Indian adolescents, our aim was to investigate the relative importance of calcium intake in relationship of serum 25 hydroxyvitamin D (25OHD) with intact serum PTH in apparently healthy children.<p class="abste...

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ba0004p64 | (1) | ICCBH2015

Peripubertal bone quality and density profile of Chinese adolescents in Hong Kong

Cheuk Ka Yee , Cheung Franco , Lee WayneY W , Hung Vivian , Tam Elisa , Lam Tsz Ping , Ng Bobby K W , Lee Simon K M , Cheng Jack C Y

Objectives: This study aimed to evaluate detailed bone profiles during puberty for Chinese adolescents in Hong Kong using high-resolution peripheral quantitative computed tomography (HR-pQCT) and dual-energy x-ray absorptiometry (DXA).Methods: 333 healthy girls and 231 healthy boys (1216-years-old) were recruited from secondary schools. Areal bone mineral density (aBMD) of bilateral femoral necks were measured by DXA while bone quality parameters w...

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ba0004p65 | (1) | ICCBH2015

Results of a specialized rehabilitation approach in osteogenesis imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Schoenau Eckhard

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

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ba0004p66 | (1) | ICCBH2015

Challenges in the management of hip dislocation a patient with Prader Willi syndrome

Eren Abdullah , Cebeci Ayse Nurcan , Kaymakcalan Hande , Abay Burak

Background: Prader Willi syndrome (PWS) is a genetic disorder characterized by severe hypotonia in infancy, hypogonadism, dysmorphic features, early onset obesity and mild mental retardation.Although hip dysplasia occurs in 1020% in patients with PWS, hip dislocation requiring surgery is seen rarely. To our knowledge, surgical treatment of hip dislocation in PWS has not been reported before.We present a case with PWS and hip ...

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ba0004p67 | (1) | ICCBH2015

McCune-Albright Syndrome in three patients, clinical correlation and spectrum of the disease

Lammoglia Juan , Mejia Liliana , Boric Angelica

Introduction: Albright-McCune Sternberg syndrome (SAMS) is a rare disorder which originates in a germinal mutation of gene GNAS1, which codifies the alpha subunit of protein G (Gsa). It is characterized by a typical phenotype which includes polyostotic fibrodysplasia, precocious puberty independent from gonadotropins, cafe-au-lait spots and a series of endocrine abnormalities. The most common mutations include a cysteine or histidine for arginine substitution in codon 201 of e...

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ba0004p68 | (1) | ICCBH2015

Body composition and vertebral changes in children with osteogenesis imperfecta -- effect of risedronate

Bishop Nick , Ahmed Faisal , Shaw Nick

Background: Case series show improved vertebral size and shape with intravenous bisphosphonate use in children with osteogenesis imperfecta (OI); however, two studies of risedronate showed no such improvement. We have re-examined the data from a dose-ranging risedronate study to determine whether other factors, in particular relating to body composition, contribute to vertebral shape in OI.Methods: We randomly assigned 53 children with moderate to severe...

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ba0004p69 | (1) | ICCBH2015

A pilot study to evaluate the effectiveness of a group circuit therapy programme for children with osteogenesis imperfecta

Pullen Deirdre , Mills Lisa , Burren Christine

Objectives: To explore the benefits of a group circuit therapy programme for children with osteogenesis imperfecta (OI) who have been identified as having functional difficulties resulting from hypermobility, reduced muscle strength, poor cardiovascular (CV) fitness and lack of engagement in physical education.Methods: 16 families were contacted to ascertain interest and preference on frequency and location for a proposed therapy group. Subsequently ten ...

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ba0004p70 | (1) | ICCBH2015

Ultrasonographic assessment of the skeletal development of the proximal tibia epiphysis, the proximal femur and the distal femur epiphysis in premature and mature newborns

Windschall Daniel , Pommerenke Michael , Rimsl Theresa , Haase Roland

Backround: Usually, skeletal development and bone age in children are still examined by x-ray. In obstetrics the use of fetal ultrasonography (US) of the distal femoral epiphyseal (DFE) and proximal tibial epiphyseal (PTE) ossification centers helps to identify intrauterine growth retardation. And US has been shown to be an excellent tool to assess the mineralization of bones. First ultrasound studies were following the mineralization of bones in young infants.<p class="ab...

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ba0004p71 | (1) | ICCBH2015

Muscle and bone impairment in children with Marfan syndrome: correlation with age and FBN1 genotype

Haine Elsa , Tauber Maithe , Van Kien Philippe Khau , Auriol Francoise , Gennero Isabelle , Julia Sophie , Dulac Yves , Salles Jean-Pierre , Edouard Thomas

Background: Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited.Objectives: The aim of th...

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ba0004p72 | (1) | ICCBH2015

Vitamin D status in young women with anorexia nervosa during intensive weight gain therapy

Svedlund Anna , Tubic Bojan , Pettersson Cecilia , Magnusson Per , Diana Swolin-Eide

Objectives: Anorexia nervosa (AN) is a life-threatening eating disorder often associated with reduced bone mass. The aim of the present study was to investigate vitamin D status and the association with BMI, fat mass and bone mineral density (BMD) during a novel intensive nutrition therapy in young AN women.Methods: Twenty-five female AN patients (20.1±2.3 years, BMI 15.5±0.9 kg/m2) admitted to a specialised inpatient eating disorder...

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ba0004p73 | (1) | ICCBH2015

Long-term outcomes of surgical treatment for craniofacial fibrous dysplasia

Boyce Alison , Burke Andrea , Peck Carolee Cutler , Dufresne Craig , Collins Michael

Fibrous dysplasia (FD) is a benign skeletal disease caused by somatic activating mutations of Gsα leading to formation of expansile fibroosseous lesions. These may occur in isolation or in association with McCune-Albright syndrome (MAS), characterized by skin pigmentation and hyperfunctioning endocrinopathies, including growth hormone (GH) excess. FD in the craniofacial skeleton may result in significant morbidity including facial asymmetry, vision and hearing ...

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ba0004p74 | (1) | ICCBH2015

A case of resistant hypophosphataemic rickets

Awogbemi Olumoyin , Safdar Asimah , McEnaney Rachel , Mahmood Nasim , Donne Adam , Weber Astrid , Dharmaraj Poonam

Background: Hypophosphataemic rickets (HPR) is an inherited condition of phosphate wasting associated with abnormal bone biochemistry and features of rickets. Most patients respond to treatment with alfacalcidol and oral phosphate. Raised levels of alkaline phosphatase (ALP) and parathyroid hormone (PTH) generally indicate a need for refining treatment, or poor compliance.Presenting problem: We report the case of a 36 week gestation male infant born to c...

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ba0004p75 | (1) | ICCBH2015

To predict curve progression in newly diagnosed AIS girls -- how good can bone mineral density do?

Yip Benjamin Hon Kei , Yu Fiona Wai Ping , Hung Vivian Wing Yin , Tam Elisa Man Shan , Lam Tsz Ping , Qin Lin , Ng Bobby Kin Wah , Cheng Jack Chun Yiu

Introduction and objective: Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal deformity with lateral curvature of ≧10 degree measured by Cobb angle. Previous studies reported that ~30% of female AIS patients had systemic osteopenia which could persist beyond skeletal maturity and that was one of the important prognostic factors. The aim of this study is to investigate the incremental prognostic value of osteopenia on curve progression in AIS as defined...

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ba0004p76 | (1) | ICCBH2015

Bone quality in severe adolescent idiopathic scoliosis -- quantitative computed tomography of lumbar spine vs high-resolution peripheral quantitative computed tomography of the distal radius: a pilot study

Yu Fiona Wai Ping , Shi Lin , Wang Defeng , Hung Vivian Wing Yin , Choy Wing Yee , Hui Steve Cheuk Ngai , Lee Pak Yin , Tam Elisa Man Shan , Lam Tsz Ping , Qin Lin , Ng Bobby Kin Wah , Chu Winnie Chiu Wing , Griffith James , Cheng Jack Chun Yiu

Introduction and objective: Adolescent idiopathic scoliosis (AIS) is a structural spinal deformity characterized by 3D deformity with lateral curvature of ≧10° as measured by Cobb angle and is predominately seen in girlsaged between 10 and 16-years-old. Low bone mass has been found to be a significant prognostic factor for curve progression in AIS.In our hospital, computed assisted navigation is used for intraoperative pedicle screw placement...

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ba0004p77 | (1) | ICCBH2015

Vertebral fractures in children affected by chronic recurrent multifocal osteomyelitis: case reports and therapy response

Vai Silvia , Corona Fabrizia , Broggi Francesca , Petaccia Antonella , Bianchi Maria Luisa

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...

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ba0004p78 | (1) | ICCBH2015

Bone metabolism in children and adolescents with newly diagnosed acute lymphoblastic leukemia

Vai Silvia , Minghetti Sara , Broggi Francesca , Scicchitano Barbara , Sala Alessandra , Corso Rocco , Bianchi Maria Luisa

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

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ba0004p79 | (1) | ICCBH2015

Nonbacterial osteitis: Is there any mismatch in the pathophysiology of osteoblasts or osteoclasts?

Singh Delila , Pozza Susanne Bechtold-Dalla , Gesell Isabella Susanne , Schmidt Heinrich , Jansson Annette

The aim of the study is to determine whether there is an imbalance between bone formation and bone resorption in nonbacterial osteitis. The osteoclast inhibitor pamidronate has been successfully used in nonbacterial osteitis. It is assumed, that there is any mismatch in the pathophysiology of osteoblasts or osteoclasts. Until now, we have no known publications on bone metabolism in nonbacterial osteitis. We chose osteoprotegerin (OP) and alkaline phosphatase (AP) as markers of...

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ba0004p80 | (1) | ICCBH2015

Ibandronate in the treatment of pediatric osteoporosis

Kutilek Stepan , Plasilova Ivana , Langer Jan

Objectives: To evaluate the effect of oral ibandronate on bone health in osteoporotic children and adolescents, as there are only scarce data regarding its use in pediatric population.Patients, materials, methods: We enrolled seven patients (six boys; one girl; mean age 15.3±3.8 years; range 818 years) with low bone mineral density (BMD) (mean 0.746±0.141 g/cm2; i.e. −3.3±1.5 S.D. z-score) and...

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ba0004p81 | (1) | ICCBH2015

Liver growth hormone receptor signaling in chronic kidney disease related growth retardation: the role of suppressor of cytokine signaling 2

Hilal Rawan Abu , Assadi Mohammad Hani , Chen Yu , Medrano Juan , Rabkin Ralph , Segev Yael , Landau Daniel

Introduction: Children with chronic kidney disease (CKD) who suffer from growth retardation have usually normal circulating GH but low IGF1, suggesting GH resistance. We have previously shown in growth retarded CKD rats an increase in suppressor of cytokine signaling 2 (SOCS2) levels, a key negative regulator of GH signaling. SOCS2 spontaneously mutated (HG) mice show an exaggerated body growth and increased bone mass. We investigated growth and GH receptor (GHR) signaling in ...

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ba0004p82 | (1) | ICCBH2015

Relationships among 25-hydroxyvitamin D, Parathyroid Hormone, and bone turnover markers in Chinese children

Han Xiao , Hui-feng Zhang , Xue Yan , Shan-shan Wu

Background: Vitamin D status is associated with bone health. Vitamin D deficiency leads to decreased bone formation and increased bone resorption. 25-hydroxyvitamin D (25(OH) D), parathyroid hormone (PTH) levels in children could affect bone turnover, and in turn, the bone markers should reflect vitamin D condition. In children the relationships among 25(OH) D, PTH and bone turnover markers are remain.Objective: To explore the associations among serum 25...

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ba0004p83 | (1) | ICCBH2015

RANKL, OPG, Dkk1 in Duchenne muscular dystrophy

Broggi Francesca , Vai Silvia , Morandi Lucia , Gorni Ksenija , D'Angelo Grazia , Pane Marika , Bianchi Maria Luisa

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD). However, studies specifically addressing bone metabolism, BMD and fractures in this disease are still very few.Our ongoing multicenter, prospective study is aimed to identify the characteristics of the DMD boys with a higher risk of bone loss and fractures, through the evaluation of bone tu...

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ba0004p84 | (1) | ICCBH2015

Different causes of infantile hypercalcemia

Kutilek Stepan , Plasilova Ivana , Gut Josef , Konrad Martin , Schlingman Karl P , Machata-Hanulikova Kristyna , Teterova-Cerna Hana

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...

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ba0004p85 | (1) | ICCBH2015

Comparison of three detection assays of serum 25(OH) D

Wu Shanshan , Zhang Huifeng , Han Xiao

The skeletal effects and new biological effect of Vitamin D are receiving increased attention. However detection methods in 25-hydroxyvitamin D (25(OH) D) measurement are not standardized and variation between laboratories ahd methods has become attractive. This study emphasizes relativity and consistency between ELISA, ESI-LC-MS/MS and electrochemical luminescence analysis which are used widely in China. This study collected 64 cases of blood, and finally obtained good relati...

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ba0004p86 | (1) | ICCBH2015

Caries intensity and bone mineral density in children living in fluorine deficient region

Povoroznyuk Vladyslav , Zadorozhna Iryna , Balatska Nataliya

Objectives: Evaluation of influence the structural and functional condition of bone tissue on caries intensity in adolescents living with deficient of fluoride in drinking water (<0.4 mg/l).Methods: It was examined 200 school children (12 and 15 years old) living in Transcarpathian region.Oral examination was done to determine caries intensity in the subjects (DMFT-index). Bone quality was determined using quantitative ultrasou...

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ba0004p87 | (1) | ICCBH2015

Influence of vitamin D deficiency on the bone mineral density in schoolchildren

Povoroznyuk Vladyslav , Balatska Nataliya , Tyazhka Olga , Budnik Tetiana , Kubey Inga , Haliyash Nataliia

Introduction: The recent studies show high prevalence of vitamin D deficiency and insufficiency all over the world. Vitamin D deficiency can cause serious problems such as rickets in children and osteomalacia in adults.The aim of the study was to determine the influence of vitamin D deficiency on bone mineral density.Methods: There were examined 304 children aged 1018 years. The boys consisted 53%. The average age of boys was...

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ba0004p88 | (1) | ICCBH2015

Vitamin D and bone health: A practical clinical guideline for management in children and young people in the UK

Thurston Anne , Bowring Claire , Shaw Nick , Arundel Paul

Background: There is currently considerable clinical and academic interest in vitamin D in children and young people. This partly relates to recognition of a resurgence of symptomatic vitamin D deficiency with reports of children presenting with rickets or hypocalcaemic symptoms. An additional development has been the recognition that vitamin D may have a physiological extraskeletal role beyond its traditional function as a key regulator of calcium and bone metabolism.<p c...

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ba0004p89 | (1) | ICCBH2015

Bone mineral density in solid cancer survivors: a cross sectional long-term follow-up study. A preliminary report

Latoch Eryk , Katarzyna Muszynska-Roslan , Kaminski Marcin Jakub , Panasiuk Anna , Sawicka-Zukowska Malgorzata , Konstantynowicz Jerzy , Krawczuk-Rybak Maryna

Objectives: Abnormal bone mass is one of the late effects which might affect childhood cancer survivors in their later life. There are a lot of studies assessing bone deficits in patients with blood cancer, however there is little research conducted on solid cancer survivors. The aim of this study was to determine the frequency of low bone mass in analyzed group and to assess the influence of time after the end of treatment.Methods: A cross-sectional stu...

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ba0004p90 | (1) | ICCBH2015

Longitudinal bone development in patients with classical congenital adrenal hyperplasia: data using peripheral quantitative computed tomography

Bechtold Susanne , Duman Leyla , Weissenbacher Claudia , Roeb Julia , Pozza Robert Dalla , Schmidt Heinrich

Background/aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluates bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: Eighteen patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepube...

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ba0004p91 | (1) | ICCBH2015

Changes in the concentration of vitamin D in the course of intensive treatment of acute lymphoblastic leukemia. A preliminary data

Muszynska-Roslan Katarzyna , Latoch Eryk , Panasiuk Anna , Sawicka-Zukowska Malgorzata , Krawczuk-Rybak Maryna

Objectives: Children during the intensive treatment of cancer might be exposed to vitamin D deficiency and consequently leads to, among other things, bone deficits and low bone mass. The aim of this study was: i) to assess the serum concentration of 25-hydroxyvitamin D (25-OH-D) in children diagnosed with acute lymphoblastic leukemia (ALL) at two time points (time of diagnosis and just after induction treatment), ii) to evaluate the impact of used drugs on the changes of 25-OH...

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ba0004p92 | (1) | ICCBH2015

Risedronate in the treatment of children with osteogenesis imperfecta: retrospective review of practice and outcomes at a large paediatric metabolic bone unit

Lawrence Neil , Bishop Nick , Arundel Paul

Objectives and method: We retrospectively reviewed records of current patients with osteogenesis imperfecta (OI) to identify those on risedronate, doses used and effects of treatment. BMD changes over time were calculated as difference between measurement before risedronate and at one year (including measurements −30 m and 1014 m after starting risedronate respectively).Results: 219/296 (74%) patients with OI had received bisphosphonate...

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ba0004p93 | (1) | ICCBH2015

Improving low bone mass in girls with adolescent idiopathic scoliosis (AIS) using calcium and vitamin D supplementation -- a randomized controlled trial

Lam Tsz Ping , Yip Benjamin Hon Kei , Yu Fiona Wai Ping , Tsang Echo Ka Ling , To Kenneth Kin Wah , Lee Yuk Wai , Wong Lyn Lee Ning , Lee Kwong Man , Ng Bobby Kin Wah , Cheng Jack Chun Yiu

Objectives: AIS is a prevalent three-dimensional spinal deformity associated with low bone mass which has been reported to be a significant prognostic factor for curve progression in AIS. If left untreated, low bone mass in AIS could persist into adulthood thus leading to subsequent health problems. This study aimed at evaluating the therapeutic effect of oral calcium plus Vit-D supplementation for low bone mass in skeletally immature AIS girls.Methods: ...

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ba0004p94 | (1) | ICCBH2015

Effects of different socioeconomic conditions on bone mineral density in healthy Turkish female university students; relation with vitamin D status

Ersoy Betul , Kizilay Deniz Ozalp , Gumuser Gul , Taneli Fatma

Objectives: Skeletal mass approximately doubles at the end of adolescence. Low areal bone mineral density (BMD) associated with vitamin D deficiency may be highly prevalent in some regions of the world. The aim of this study was to investigate effects of different socioeconomic conditions on BMD and vitamin D status in healthy Turkish female university students and to determine an association between Vitamin D status and BMD.Participants and methods: We ...

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ba0004p95 | (1) | ICCBH2015

Osteomyelitis and septic arthritis in children: first data from the EUCLIDS network

Zenz Werner , Trobisch Andreas , Klobassa Daniela , Binder Alexander , Sperl Matthias , Martinon-Torres Federico , Rivero Irene , Carrol Enitan D , Paulus Stephane , Kalifa Bojang , Anderson Suzanne , Schlapbach Luregn , Emonts Marieke , van der Flier Michiel , de Groot Ronald , Boeddha Navin , Herberg Jethro , Agapow Paul , Levin Michael , -on behalf of EUCLIDS consortium

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~312/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

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ba0004p96 | (1) | ICCBH2015

Bone health among boys with Duchenne muscular dystrophy before initiation of glucocorticoids

Tung Joanna Yuet-ling , Chan Sophelia Hoi-shan , Cheung Pik-to

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children and it is well known for its progressive deteriorating course. Nowadays, use of glucocorticoids is the gold standard of treatment for this group of patients as it can significantly prolong ambulation, decrease risk of scoliosis, and pulmonary functions. However, the use of glucocorticoid is associated with increased risk of vertebral and lower limb fractures, which could further acc...

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ba0004p97 | (1) | ICCBH2015

Dysosteosclerosis from a unique mutation in SLC29A3

Turan Serap , Mumm Steven , Gottesman Gary S , Abali Saygin , Serpil Bas , Atay Zeynep , William H McAlister , Whyte Michael P , *Dr. Turan and Dr. Mumm contributed equally to this work

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...

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ba0004p98 | (1) | ICCBH2015

Clinical predictors of low bone mineral density in children with juvenile idiopathic arthritis

Kostik Mikhail , Larionova Valentina , Scheplyagina Larisa

Objectives: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease of joints which can affect optimal linear growth, risk of fractures and bone quality during the childhood and adult life. The aim of our study was to detect the simple clinical and laboratorial markers which can predict the realization of low bone mineral density (LBMD <−2 S.D.) in children with JIA.Methods: 198 children (82 boys and 116 girl...

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ba0004p99 | (1) | ICCBH2015

The role of vitamin D in growth physiology in early-aged and preschool children

Scheplyagina Larisa

Objectives: The linear growth of child is characterized by the presence of phases of growth spurt which allowed to rich the peak growth to the end of puberty. Acceleration of velocity of linear growth required the adequate calcium and vitamin D supplementation necessary for mineralization of bone matrix and osteoblast proliferation.The aim of our study was to evaluate changes of serum concentrations of vitamin D during the growth phases.<p class="abs...

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ba0004p100 | (1) | ICCBH2015

Secondary osteoporosis in boys with Alagille syndrome -- case report

Jakubowska-Pietkiewicz Elzbieta , Smiechowicz Ewa , Chlebna-Sokol Danuta

Alagille syndrome is a multiorganic disorder, which particularly manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis. The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogen...

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ba0004p101 | (1) | ICCBH2015

X-linked spinal muscular atrophy caused by de novo c.1731C>T substitution in the UBA1 gene

Jedrzejowska Maria , Kostera-Pruszczyk Anna , Jakubowska-Pietkiewicz Elzbieta

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

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ba0004p102 | (1) | ICCBH2015

Bone robusticity in two distinct skeletal dysplasias: an evaluation of the second metacarpal, a surrogate for bone strength

Marino Josephine , Jepsen Karl , Carter Erin , Raggio Cathleen

Radiographs of the second metacarpal are used to assess bone strength development in paediatric populations. Children with achondroplasia and osteogenesis imperfecta (OI) have known differences in bone strength. Details of how bone strength develops and compares within these populations to unaffected children are lacking. A data set for patients with achondroplasia and OI was established.A retrospective IRB-approved review of bone-age films (n=6...

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ba0004p103 | (1) | ICCBH2015

Gait assessment in children with childhood hypophosphatasia: impairments in muscle strength and physical function

Phillips Dawn , Griffin Donna , Przybylski Tracy , Morrison Erica , Reeves Amy , Vallee Marc , Fujita Kenji , Madson Katherine , Whyte Michael

Objectives: Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by low tissue nonspecific alkaline phosphatase activity. HPP manifests a wide spectrum of complications, which may include HPP-related rickets and compromised physical function in children.Methods: We report on clinical gait assessments based on archival video recordings of six children with onset of HPP symptoms at ≧6 months and documented HPP-related skeletal abnor...

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ba0004p104 | (1) | ICCBH2015

Effect of intravenous pamidronate in the treatment of skin calcinosis in the course of juvenile dermatomyositis -- a story half-told

Abramowicz Pawel , Dobrenko Elzbieta , Abramowicz Magdalena , Konstantynowicz Jerzy

Juvenile dermatomyositis (JDM) is a severe connective-tissue disease of unknown etiology characterized by inflammatory process affecting muscles and skin, with subsequent presentation in the joints, esophagus, lungs, and the cardiovascular system. Clinical presentation also includes deposition of calcium in the skin (calcinosis cutis) which is typically seen in the juvenile DM, contrary to the adult form. The pathogenesis of JDM-related calcinosis remains unclear wher...

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ba0004p105 | (1) | ICCBH2015

Refractory hypercalcaemia of malignancy: responsiveness to Denosumab and Zoledronate

Giri Dinesh , Ramakrishnan Renuka , Hayden James , Brook Lynda , Das Urmi , Mughal M Zulf , Selby Peter , Dharmaraj Poonam , Senniappan Senthil

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report two cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: Presenting problem: A 17-year-old b...

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ba0004p106 | (1) | ICCBH2015

Metatropic dysplasia is associated with increased fracture risk and increased markers of bone turnover

Bober Michael , Duker Angela , Carney Megan , Ditro Colleen , Rogers Kenneth , Mackenzie William

Metatropic dysplasia (MD) was first described by Maroteaux et al. in 1966. Its name was derived from the Greek word metatropos which means changing pattern because individuals with this diagnosis begin life with a short-limbed dysplasia and a long trunk with narrow chest, and over time their dysplasia becomes short-trunked due to progressive kyphoscoliosis1. It is now recognized that MD is caused by gain-of-function mutations in transie...

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ba0004p107 | (1) | ICCBH2015

Bone mineral density in Pelizaeus Merzbacher disease

Kecskemethy Heidi , Hobson Grace , Theodore Harcke H

Objective: To examine the bone mineral density (BMD), fracture occurrence and history in a cross-section of subjects with Pelizaeus Merzbacher Disease (PMD).To describe the effect of pamidronate therapy on BMD over time in treated PMD patients.Methods: We examined the medical history, medications, level of ambulation, fracture history and DXA results in 15 boys with PMD. Body sites scanned included whole body (WB) when possible, lu...

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ba0004p108 | (1) | ICCBH2015

Unique occurrence of long bone fragility with cranial hyperostosis: Searching for the genetic culprit

Raimann Adalbert , Wintergerst Uwe , Roschger Paul , Stelzl Rainer , Biedermann Rainer , Rasse Michael , Fratzl-Zelman Nadja , Laccone Franco , Klaushofer Klaus , Haeusler Gabriele

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...

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ba0004p109 | (1) | ICCBH2015

Effects of inorganic phosphate and FGF23 on C2C12 myoblast cells

Raimann Adalbert , Dangl Alexander , Sagmeister Susanne , Greber-Platzer Susanne , Haeusler Gabriele

Objectives: Dysregulation of systemic phosphate homeostasis is often associated with impairment of musculoskeletal tissue function. Many factors such as calcium levels and dysegulated endocrine mechanisms are thought to contribute. Inorganic phosphate and FGF23 have been shown to act via similar signaling pathways in several cell types but we are not aware of any detailed investigations into their effect on the differentiation and viability of skeletal muscle cells. W...

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ba0004p110 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p111 | (1) | ICCBH2015

Is groupwork an effective way to improve transition for young people with osteogenesis imperfecta? A pilot study

Ball Suzanne , Mitchell Ryan

Objectives: Within the National Health Service there is a recognised need for supporting young peoples transition into adult services1. Focus groups and forums have historically been used to identify how to achieve good transition between services, from the perspective of patients, carers and professionals. A recent article recommended an individualised programme supporting transition for young people with osteogenesis imperfecta (OI)2. The ai...

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ba0004p112 | (1) | ICCBH2015

Type V osteogenesis imperfecta: confirmation of highly characteristic radiographic findings in early infancy

Arundel Paul , Offiah Amaka , Bishop Nick , Ehtisham Sarah

Type V OI is characterised by interosseous membrane calcification and hyperplastic callus formation, but the infantile phenotype is less well recognised. In 2012 Arundel et al. described distinctive radiographic changes in an infant with type V OI. We report two further male infants (with genetic confirmation of type V OI) confirming the highly characteristic and consistent radiographic appearances that should aid early diagnosis.Case 1 P...

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ba0004p113 | (1) | ICCBH2015

Comparison of cost benefits and efficacy of Zoledronic acid and Pamidronate in the treatment of osteogenesis imperfecta in children

Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

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ba0004p114 | (1) | ICCBH2015

Influence of pubertal development and body composition on bone mass accrual in apparently healthy school children aged 6-17 years

Dabas Aashima , Khadgawat Rajesh , Marwaha R K , Mehan N , Sastry A , Badra K

Objectives: To evaluate progression of BMD and bone mineral content (BMC) during pubertal development and Influence of body composition and vitamin D on BMD and BMC in children and adolescents.Material and method: This cross sectional study was part of an ongoing health survey of Delhi school children which recruited 1905 apparently healthy school children (835 boys; 1070 girls) in the age group of 617 years. After brief history, anthropometry and ...

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ba0004p115 | (1) | ICCBH2015

Vitamin D and bone mineral density in children with Duchenne muscular dystrophy relation to fractures and ambulation status

Buckner Jason , Bowden Sasigarn

Objectives: To evaluate vitamin D and bone mineral density (BMD) status in children with Duchene muscular dystrophy (DMD) in relation to fractures and ambulation status using gross motor scale function classification system (GMFCS).Methods: Clinical data of 53 DMD patients (mean age 12.1 years, range 4.919.6) at the first visit to the Endocrine/Bone Clinic at Nationwide Childrens Hospital were retrospectively studied. The patients were strati...

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ba0004p116 | (1) | ICCBH2015

Osteopetrosis with uncommon final height: can only local IGF1 hold normal growth during pubertal spurt?

Milani Soraya Sader , Paula Francisco Jose , Liberatore Jr Raphael , Martinelli Jr Carlos Eduardo

Background: Final stature is a result of concomitant growth hormone (GH)-IGF1 axis integrity, a healthy environment and genetic background. Occasionally, growth occurs despite remarkable impairment in hormone profile. Presenting problem: An uncommon case of longitudinal growth in a boy with very low IGF1 concentrations and clinical diagnosis of osteopetrosis. Clinical management: We report on the case of a 19 year-old male patient with the diagnosis of osteopetrosis who had a ...

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ba0004p117 | (1) | ICCBH2015

Familial hypocalciuric hypercalcemia in two Chinese families -- common and uncommon features

Lee Lai-Ka , Yau Ho-Chung , Yuen Liz

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition with an estimated prevalence of 1 in 78,000. The commonest cause of FHH is inactivating mutations of the calcium-sensing receptor (CASR) gene, with the rest mostly caused by missense mutations of the GNA11 and AP2S1 genes. FHH is characterized by persistent mild-to-moderate hypercalcemia, hypocalciuria with calcium-creatinine clearance ratio ⩽0.01. The disease runs a benign cou...

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ba0004p118 | (1) | ICCBH2015

Changes in total body and regional bone mass in relation to body composition in children with osteogenesis imperfecta treated with pamidronate

Sritharan Shironisha , Gopal-Kothandapani Jaya Sujatha , Bishop Nick , Dimitri Paul

Background: In patients with osteogenesis imperfecta (OI), a rise in age-specific total body and regional bone mass is well recognised. In contrast changes in body size-adjusted bone mass in relation to changes in body composition following pamidronate therapy remain relatively unexplored.Methods: Changes in total and regional bone mass in relation to body composition in children with OI receiving pamidronate (3 mg/kg per day over 3 days, 3 monthly) were...

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ba0004p119 | (1) | ICCBH2015

Burden of disease in children with hypophosphatasia: results from patient-reported surveys

Weber Thomas , Sawyer Eileen , Moseley Scott , Odrljin Tatjana , Kishnani Priya

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...

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ba0004p120 | (1) | ICCBH2015

Fracture incidence and bisphosphonate therapy in boys with Duchenne Muscular Dystrophy

Crabtree Nicola , Hogler Wolfgang , Sahota Jaskiran , Chapman Dee , Walford Jacky , Roper Helen , Willis Tracy , Shaw Nicholas

Background: DMD is a progressive neuromuscular disease often treated with oral glucocorticoids (GC) to prolong ambulation and maintain cardiovascular function. However, the osteotoxic GC effects often result in a skeleton prone to fractures. DMD boys presenting with fractures are treated with bisphosphonates (BP) but evidence of beneficial effects is limited. The aim of this work was to review the use of intravenous BPs in a group of severely affected boys with fractures.<...

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ba0004p121 | (1) | ICCBH2015

A case of osteogenesis imperfecta mimicking the features of mucopolysaccharidosis IVA

Gul Yesiltepe Mutlu , Aydin Hatip , Kirmizibekmez Heves , Gokmeydan Eylem

Background: Mucopolysaccharidosis IV is a rare, autosomal recessive disorder. Common presenting features include severe short stature, kyphoscoliosis, genu valgum, cloudy cornea, osteoporosis, mild coarsening of facial features, joint restriction in some large joints. Skeletal dysplasias should be considered in its differential diagnosis. Here we present a case whose initial diagnosis was Mucopolysaccharidosis IV and was diagnosed with osteogenesis imperfecta (OI) by COL1A2 mu...

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ba0004p122 | (1) | ICCBH2015

Phalangeal microgeodic disease: A rare cause of painful swollen toes

Govindan Ranjith , Green Ruth , Dyankova-Peeva Daniela , Keen Richard , Jacobs Benjamin

A healthy 8-year-old girl of Nigerian origin, presented in January 2014 with a 2 month history of progressive pain and swelling of the right 2nd, 3rd and 4th toe. There was no preceding trauma or illness. Those toes were swollen, tender and cold to touch, with bluish skin discoloration (Figure 1).She had normal peripheral pulses. Her inflammatory markers were normal, as was haemoglobin electrophoresis. A Doppler ultrasoun...

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ba0004p123 | (1) | ICCBH2015

Does the introduction of vertebral fracture assessment change clinical practice?

Chapman Dee , Walford Jacky , Shaw Nicholas , Hogler Wolfgang , Crabtree Nicola

Introduction: Since the definition of osteoporosis in children changed following the revised ISCD guidelines of 2013, the presence of vertebral fractures has become more clinically important, in particular since vertebral fractures may occur despite apparently normal bone density (www.iscd.org). Although the detection of vertebral fractures in children is still largely dependent on lateral spine x-rays, the introduction of new higher resolutio...

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ba0004p124 | (1) | ICCBH2015

Bisphosphonate treatment and the characteristics of femoral fractures in children with osteogenesis imperfecta

Vuorimies Ilkka , Mayranpaa Mervi , Valta Helena , Kroger Heikki , Toiviainen-Salo Sanna , Makitie Outi

Objective: Bisphosphonates (BPs) are widely used in treatment of pediatric patients with osteogenesis imperfecta (OI) and their beneficial effect on bone density and fracture rates has been well reported. Atypical femoral fracture is a potential complication of bisphosphonates, usually occurring after several years of BP treatment in postmenopausal women. Some evidence suggests increased proportion of subtrochanteric femoral fractures in children with OI after prolonged use of...

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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...

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ba0004p126 | (1) | ICCBH2015

Low bone mass in children with epidermolysis bullosa

Katharina Ude-Schoder

Background: Epidermolysis bullosa (EB) is a rare, genetic skin disorder characterized by increased skin fragility after relatively minor trauma. It varies in severity even within the same subtype, ranging from a minor inconvenience to a severely disabling or life threatening disorder. In generalized forms, EB is a systemic disorder in which osteoporosis is a frequent manifestation.Presenting problem: While the mutations that cause EB do not have a direct...

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ba0004p127 | (1) | ICCBH2015

The outcomes of a standardized approach to managing metabolic bone disease of prematurity

Chin Lit Kim , Doan John , Teoh Yvonne Sui Lien , Stewart Alice , Forrest Peter , Simm Peter J

Metabolic bone disease (MBD) of prematurity is a well-recognized complication of preterm birth. Yet there is limited evidence for the optimal assessment, monitoring, and subsequent bone health management.Retrospective audit of 171 infants born <32 weeks gestation between November 2012 and January 2014 at three Monash Health neonatal units (Melbourne, Australia) was undertaken. Infants had mean gestational age (GA) 28.6±2.1 weeks and birth ...

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ba0004p128 | (1) | ICCBH2015

Patients treated with anti-epileptic drugs have a higher rate of fracture and impaired bone and muscle development compared with controls: results from a pilot study

Simm Peter J , Seah Sebastian , Mackay Mark , Freeman Jeremy , Petty Sandra J , Wark John D

Epilepsy is a relatively common condition of childhood, with anti-epileptic drugs (AEDs) the mainstay of medical therapy. AED use in adults has been shown to be associated with impaired bone density and increased risk of bone fracture. Paediatric data are more limited particularly in relation to fracture risk and skeletal geometry.This study aimed to examine the within-pair differences in fracture prevalence and bone, muscle and balance parameters in sex...

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ba0004p129 | (1) | ICCBH2015

Cortical area and volumetric density during pubertal growth: longitudinal analysis in black and white South African adolescent males

Schoenbuchner Simon , Ward Kate , Norris Shane , Prentice Ann , Pettifor John

Skeletal development during childhood and adolescence is an important determinant of adult bone health. Patterns of growth differ between populations, but it is unclear how these differences relate to changes in bone size and volumetric density. We aimed to examine ethnic differences in skeletal phenotype in the context of pubertal growth and development in 279 adolescent males from Johannesburg, South Africa.We performed annual peripheral quantitative c...

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ba0004p130 | (1) | ICCBH2015

Chronic recurrent multifocal osteomyelitis: the value of whole-body MRI in a series of 34 children

Jacobs Benjamin , Brown Mathew , Guha Ananya , Alexandrou Dion , Paul O'Donnell , Keen Richard

Objectives: To assess the role of whole-body MRI in the diagnosis and management of chronic recurrent multifocal osteomyelitis (CRMO) is a benign and non-infective auto-inflammatory bone disorder characterised by multiple and recurrent inflammatory bone lesions. No universal diagnostic criteria exist.Methods: Retrospective review of CRMO cases diagnosed at this hospital between 2008 and 2014. Cases were identified from patient records and clinical inform...

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ba0004p131 | (1) | ICCBH2015

Association between serum 25-hydroxyvitamin D and incidence of infections in 6--12 years old children in a semi-rural setting in Western Maharashtra, India

Mandlik Rubina , Kajale Neha , Chiplonkar Shashi , Patwardhan Vivek , Phanse-Gupte Supriya , Khadilkar Vaman , Mughal Zulf , Khadilkar Anuradha

Objectives: Previous studies have shown that burden of infections is greater in those with low body stores of vitamin D. Vitamin D is a key mediator of innate immunity and is crucial in production of cathelicidin, a potent antimicrobial agent. Vitamin D deficiency is common among Indian children; the prevalence of infections is high. Thus, aims of our study were to examine the association between: i) serum 25-hydroxyvitamin D (25OHD) concentrations and symptoms of infections a...

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ba0004p132 | (1) | ICCBH2015

Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu--Cheney syndrome

Sakka Sophia , RachelI Gafni , Clarke Bart , Rauch Frank , Hogler Wolfgang

Objectives: HajduCheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...

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ba0004p133 | (1) | ICCBH2015

Fibrodysplasia ossificans progressiva: disabling but now treatable

Keen Richard , Jacobs Benjamin , Mughal M Zulf

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterised by congenital malformation of the great toes and progressive heterotopic endochondral ossification. The disease progresses with episodic flare-ups, resulting in disabling cumulative immobility. The discovery of the ACVR1 gene as the cause of FOP has allowed identification of therapeutic targets. Palovarotene, a retinoic acid receptor gamma agonist, is in phase 2 clinical trials.<...

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ba0004p134 | (1) | ICCBH2015

Associations of 25-hydroxyvitamin D with major components of metabolic syndrome in children

Challa Anna , Evagelidou Eleni , Siomou Ekaterini , Tzallas Alexandros , Giapros Vasileios

Objective: To study any possible relations of vitamin D status and metabolic syndrome (MetS) components in children, since there is evidence for extraskeletal functions of vitamin D, and its deficiency may contribute to the pathogenesis of several major diseases. In addition to explore any possible role of birth weight (BW).Methods: Clinically healthy children aged 39 years (n=152) were included in the study. Forty-six were born large for ...

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ba0004p135 | (1) | ICCBH2015

Chronic recurrent multifocal osteomyelitis in children: a new, MRI-based method of quantifying inflammation in the bone

Alexandrou Dionysios , Jacobs Benjamin , Paul O'Donnell , Hargunani Rikin , Guha Ananya , Roettger Diana , Kubassova Olga

Objectives: The main aim of the study is to describe a new method of quantitative, MRI-based assessment of inflammation in children with chronic recurrent multifocal osteomyelitis (CRMO).General hypothesis: The main hypothesis is that the bone marrow edema, as detected in CRMO with MRI, can be quantified to aid early diagnosis and help identify clinically silent lesions.Methods: We performed a retrospective analysis of static MRI s...

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ba0004p136 | (1) | ICCBH2015

A modified performance-oriented mobility assessment tool for assessing clinically relevant gait impairments and change in children with hypophosphatasia: development and validation

Phillips Dawn , Griffin Donna , Przybylski Tracy , Morrison Erica , Reeves Amy , Vallee Marc , Fujita Kenji , Madson Katherine , Whyte Michael

Objective: Mobility is an important endpoint in patient care with implications for activities of daily living, community participation, and quality of life. We adapted the performance-oriented mobility assessment (POMA-G),1 a widely used and validated clinical gait assessment tool for adults, to use in children with hypophosphatasia (HPP). HPP is the rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue non-specific alkaline phosp...

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ba0004p137 | (1) | ICCBH2015

A slow and difficult diagnosis of a child with chronic recurrent multifocal osteomyelitis

Guha Ananya , Brown Mathew , Green Ruth , Keen Richard , Calder Peter , Jacobs Benjamin

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...

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ba0004p138 | (1) | ICCBH2015

In-depth phenotyping including analyses of skin connective tissue in osteogenesis imperfecta

Balasubramanian Meena , Bishop Nick

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. Over 90% of patients with OI have a mutation in COL1A1/COL1A2, which shows an autosomal dominant pattern of inheritance. Several other genes are associated with the autosomal recessive forms of OI. In-depth phenotyping and in particular, studies involving manifestations in the skin connective tissu...

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ba0004p139 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p140 | (1) | ICCBH2015

Rickets in two patients pediatrics

de Beldjenna Liliana Mejia , Lammoglia Juan Javier , Rengifo Anuar

The Rickets is a disease which disturbs normal bone formation through different methods, like vitamin D deficiency, malabsorption, chronic renal disease, metaphisary dysplasia, low phosphorus and resistant rickets.The peak age at which rickets is most prevalent is usually 318 months, and the characteristic clinical features of this metabolic bone disease include enlargement of the epiphyses of the long bones and rib cage, bowing of the legs, bendin...

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ba0004p141 | (1) | ICCBH2015

Persistence of musculoskeletal abnormalities in children and adolescents with inflammatory bowel disease: a prospective longitudinal study

S McCarrison , Mason A , SC Wong , Shepherd S , P McGrogan , Russell R , SF Ahmed

Objectives: To evaluate musculoskeletal development using pQCT and DXA in childhood onset inflammatory bowel disease (IBD).Methods: Prospective longitudinal study with 12 months follow-up in 43 children (23 males) with IBD: 30 crohns disease(CD), 13 ulcerative colitis (UC) and inflammatory bowel disease unclassified (IBDU). pQCT at 4% and 66% radius, DXA for total body (TB), lumbar spine (LS) bone mineral content were assessed at baseline and 12 mo...

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ba0004p142 | (1) | ICCBH2015

The mechanical multi-stimulation for musculoskeletal disease

Park Ji Hyung , Cho Seungkwan , Seo Dong-Hyun , Hwang Dong-Hyun , Han Tae-Young , Kim Han Sung

Osteoporosis takes the form of porous bone loss which is due to aging, insufficient exercise and unbalanced nutrition and so on. A number of treatments were developed to treat the osteoporosis, which were categorized by pharmacological and non-pharmacological methods. However, it is generally accepted that taking too much pharmacological medication may be harmful to the health. Thus, non-pharmacological treatments are considered as the alternative ways to overcome the side eff...

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ba0004p143 | (1) | ICCBH2015

Low serum vitamin D levels in children treated for hematologic oncologic diseases

Sperl Daniela , Krause Tobias , Lackner Herwig , Obermayer-Pietsch Barbara , Decrinis Clare , Berger Astrid , Sovinz Petra , Seidel Markus , Schwinger Wolfgang , Benesch Martin , Strenger Volker , Schmidt Sandrin , Urban Christian E

Objectives: Vitamin D deficiency is of current interest especially in high risk patients for reduced bone mineral density as in pediatric hematologic oncologic patients.Methods: During a 4 year period 194 pediatric hematologic oncologic patients were screened for serological vitamin D deficiency (defined as 25 (OH)D levels <30 ng/ml and accordingly <75 nmol/l). 61 patients were in the prospective group 1 defined as screening at time of diagnosis,...

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ba0004p144 | (1) | ICCBH2015

Hypomagnesaemia due to lead poisoning in the context of a heterozygous CLDN-16 mutation

Ramaswamy Priya , Kurre Malathi , Muller Dominik , Dargan Paul , Gevers Evelien , Allgrove Jeremy

Background: 3 year old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica.Presenting problem: He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia at 0.26 (0.71.0) mmol/l, hypocalcaemia at 1.59 (2.22.6) mmol/l, hypokalaemia, hyponatremia and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urin...

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ba0004p145 | (1) | ICCBH2015

Zoledronate as first line therapy for pediatric osteogenesis imperfecta?

Keemink Yvette , van Brussel Marco , Sakkers Ralph , Pruijs Hans , van Dijk Atty

Background: In pediatric osteogenesis imperfecta (OI), bisphosphonates (BPs) are considered the best treatment option to increase bone density and reduce fracture rate. Pamidronate (PAM) is regarded as standard care for moderate to severe OI. The most recent added BP is intravenous zoledronate (ZOL). ZOL has practical advances over PAM, however research on its efficacy and safety is scarce.Objectives: To investigate the efficacy and safety of treatment w...

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ba0004p146 | (1) | ICCBH2015

Hypovitaminosis D and factors associated in healthy children aged 2--14 years old in Mexico

Chico-Barba Gabriela , Huitron Gerardo , Guagnelli Miguel , Clark Patricia

Objectives: To estimate the status of 25-hydroxyvitamin D in healthy Mexican children and to describe factors related to vitamin D deficiency.Methods: A cross-sectional study was conducted in children 214 years old in Mexico City and Toluca Edo de Mexico. Trained interviewers applied a questionnaire including all relevant demographics, medical history, sun exposure, sunblock use and skin phototype. Morning fasting blood was collected in all subject...

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ba0004p147 | (1) | ICCBH2015

A severe form of cerebral palsy as a risk factor for the development of secondary osteoporosis in children

Nenadov Natasa , Krasnik Rastislava , Svorcan Jelena Zvekic , Mikov Aleksandra , Drljan Cila Demesi , Radovanov Maja

Objective: Investigate bone mineral density in children with cerebral palsy (CP) with special focus on severe forms of CP.Methods: Investigation encompassed 23 children, both genders, between 6 and 17 years of age, with diagnosed cerebral palsy, who were hospitalized between January 1 and December 31, 2014. Bone mineral density (BMD) was established using Dual-energy x-ray Absorptiometry DXA method, at L1L4 lumbar vertebrae and at the femur ...

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ba0004p148 | (1) | ICCBH2015

Prevalence of vertebral fractures in survivors of childhood acute lymphoblastic leukemia

Fiscaletti Melissa , Dubois Josee , Miron Marie-Claude , Krajinovic Maja , Laverdiere Caroline , Sinnett Daniel , Alos Nathalie

Improvements on the overall cure rates for childhood acute lymphoblastic leukemia (ALL) have allowed the cure of over 85% of treated patients. At least 70% of survivors of childhood ALL cancers have substantial morbidities as a result of their treatment. Long term musculoskeletal complications in this population are currently receiving increasing attention because of their negative impact on the quality of life and ability to perform appropriate activities. Our objective was t...

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ba0004p149 | (1) | ICCBH2015

Trabecular bone density decreased during 6 year observation in girls with Turner syndrome, but was not associated with fracture history

Soucek Ondrej , Sumnik Zdenek , Snajderova Marta , Kolouskova Stanislava , Lebl Jan

Objectives: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). Affected females have short stature and present with primary amenorrhea. Good densitometric predictor of fractures and longitudinal data on BMD development in childhood and adolescence are still lacking.Patients and methods: Single tertiary care endocrinology center longitudinal study was performed. Peripheral qu...

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ba0004p150 | (1) | ICCBH2015

Impaired bone mineral density in adult survivors of childhood cancer: a literature review

Pluijm Saskia , Marissa den Hoed , Neggers Sebastian , Pieters Rob , den Heuvel-Eibrink Marryvan

Objectives: impairment of bone mineral density (BMD) is a complication of childhood cancer treatment. A comprehensive review on the occurrence of impaired BMD in childhood cancer survivors (CCS), and which disease subgroups are at risk has never been pursued so far. The aim of this study was to summarize all knowledge on BMD status and associated determinants in long-term adult childhood cancer survivors (CCS) based on available literature.Methods: an el...

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ba0004p151 | (1) | ICCBH2015

Do children with mild to moderate osteogenesis imperfecta (OI) with abdominal muscle weakness have a higher incidence of pars defects? A physiotherapy pilot

Hupin Emilie , Edwards Karen , Chueng Moira , Allgrove Jeremy , DeVile Catherine

Objective: Osteogenesis imperfecta (OI) is most commonly caused by a defect in the genes that produce type I collagen. Clinical features include low bone mass, fractures and spinal abnormalities. Pars defects are abnormalities in the pars interarticularis of vertebrae. There is a higher incidence of pars defects in the lumbar spine in children with OI compared to the normal population. Abdominal muscle weakness and altered spinal postures are common presentations in the childr...

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ba0004p152 | (1) | ICCBH2015

Syphilitic bone disease: a case report

Sukthankar Shaila , Sukthankar Ashish , Wright Neville , Foster Anne , Mughal Zulf

Background: Syphilis remains a great imitator of myriad of clinical diagnosis. Congenital syphilis, though still uncommon, is on the rise once again. Recognition of syphilitic bone disease and its potential impact on growth is important for long term prognosis. We describe our experience of managing a child with congenital syphilis and multisite osteolytic lesions.Presenting problem: A 6 week-old girl presented with a swollen and painful elbow with reduc...

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ba0004p153 | (1) | ICCBH2015

In-vivo high-resolution peripheral quantitative computer tomography assessment of skeletal microstructure in children with osteogenesis imperfecta

Digby Maria , Dimitri Paul , Arundel Paul , Bishop Nick , Paggiosi Margaret , Offiah Amaka

Objectives: The clinical assessment of bone mass in children with osteogenesis imperfecta (OI) is normally assessed by DXA. Further information about bone microarchitecture is obtained from bone biopsy which is invasive and requires anaesthetic. High-resolution peripheral quantitative computer tomography (HRpQCT) is an in-vivo imaging modality capable of assessing skeletal microstructure and integrity to a resolution of 80 μm. To date, no HRpQCT studies have incl...

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ba0004p154 | (1) | ICCBH2015

A longitudinal, prospective, long-term registry of patients with hypophosphatasia

Kishnani Priya , Langman Craig , Linglart Agnes , Mornet Etienne , Ozono Keiichi , Rockman-Greenberg Cheryl , Seefried Lothar , Bedrosian Camille , Fujita Kenji , Cole Alex , Hogler Wolfgang

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

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ba0004p155 | (1) | ICCBH2015

Hydroxylase (CYP27B1) deficiency presenting with marked hypotonia, growth failure, hypoventilation, pulmonary hypertension and a renal proximal tubulopathy

Barton John , Hayes Wesley , Burren Christine

Background: 1α-hydroxylase is a mitochondrial P450 enzyme critical to the synthesis of active calcitriol from the pro-hormone 25(OH) D. Multiple different mutations in the CYP27B1 gene have been identified that abolish or reduce 1α-hydroxylase enzymatic activity resulting in vitamin D dependent rickets type 1. Children with 1α-hydroxylase deficiency present with a clinical picture of joint pain and deformity, hypotonia, muscle weakness, growth failure and someti...

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ba0004p156 | (1) | ICCBH2015

Children with coeliac disease on gluten free diet have normal bone mass, geometry and muscle mass

Mackinder M , SC Wong , Tsiountsioura M , Shepherd S , Tellemer E , Kyriakou A , Buchanan E , Edwards C , SF Ahmed , P McGrogan , Gersimidis K

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controlsMethod: 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) underwent pQCT at 4%, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as median (range).Result: Median TTG was 1.8 IU/l (0.1, 114) wi...

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ba0004p157 | (1) | ICCBH2015

Hypoxia inducible factor-1α directly induces the expression of receptor activator of nuclear factor-κB ligand in MLO-Y4 osteocytes

Baek Kyunghwa , Park Hyun-jung , Baek Jeong-hwa

Osteocytes may function as mechanotransducers by regulating local osteoclastogenesis. Reduced availability of oxygen, i.e. hypoxia could occur during disuse, bone development and fracture. Receptor activator of nuclear factor-κB ligand (RANKL) is an osteoblast/stromal cell derived essential factor for osteoclastogenesis. Hypoxia induced osteoclastogenesis via increased RANKL expression in osteoblasts was demonstrated. Hypoxic regulation of gene expression general...

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ba0004p158 | (1) | ICCBH2015

Extreme, biomechanically-explained remodelling of biological femoral reconstructions in pediatric oncology

Taddei Fulvia , Valente Giordano , Piroddi Sabina , Schileo Enrico , Pitto Lorenzo , Roncari Andrea , Leardini Alberto , Manfrini Marco

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bones structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...

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ba0004p159 | (1) | ICCBH2015

The usefulness of bioelectrical impedance analysis in the proper assessment of nutritional status in children and adolescents with idiopathic scoliosis

Matusik Edyta , Durmala Jacek , Matusik Pawel , Wadolowski Karol

Background: Based on our recent data, nutritional status disturbances (both under- and overweight) can be associated with the severity of scoliotic curve. Objectives: The study objective was to compare two methods for the assessment of nutritional status (routine BMI calculation vs body composition analysis by bioelectrical impedance analyzer (BIA)) in the group of pediatric patients with idiopathic scoliosis (IS).Methods: 317 patients (240 girls/77 boys...

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ba0004p160 | (1) | ICCBH2015

Prevalence of muscle deficits in survivors of childhood acute lymphoblastic leukemia

Veilleux Louis-Nicolas , Rauch Frank , Curnier Daniel , Krajinovic Maja , Laverdiere Caroline , Sinnett Daniel , Alos Nathalie

Overall cure rates for childhood acute lymphoblastic leukemia (ALL) have improved allowing the cure of over 85% of patients. At least 70% of survivors of childhood ALL cancers have substantial morbidities as a result of their treatment. There is evidence that survivors of ALL have increased rates of long-term skeletal muscle dysfunction and weakness. Our objective was to determine the percentage of patients with muscle dysfunctions (muscle force, power, endurance, and % of fit...

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ba0004p161 | (1) | ICCBH2015

Unusual adverse reaction of pamidronate: thrombophlebitis

Orbak Zerrin , Kaya Avni

Pamidronate, used for the treatment of paediatric osteoporosis, reduces the fracture rate and improves ambulatory status. Pamidronate is a potent inhibitor drug of bone resorption. After i.v. administration, the drug is extensively taken up in bone, where it binds with hydroxyapatite crystals in the bone matrix. Matrix-bound pamidronate inhibits osteoclast activity. Pamidronate is well tolerated by most patients.We report a patient who developed venous t...

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ba0004p162 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004p163 | (1) | ICCBH2015

Whole blood gene expression analysis in idiopathic infantile hypercalcemia due to compound heterozygous mutation in the CYP24A1 gene in an Austrian 4-month-old boy and his family

Hofer Daniela , Zachhuber Verena , Lindheim Lisa , Munzker Julia , Trummer Olivia , Schweighofer Natascha , Ulbing Matthias , Obermayer-Pietsch Barbara

Defects in 24-hydroxylation caused by vitamin D-hydroxylase (CYP24A1) loss-of-function mutations lead to decreased degradation of 1,25(OH)2D and the syndrome of idiopathic infantile hypercalcemia. Affected individuals show increased sensitivity to vitamin D and may develop severe hypercalcemia and hypercalciuria, even with small doses of vitamin D.Presenting: The objective of the study was to investigate the gene expression profile in...

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ba0004p164 | (1) | ICCBH2015

Effect of vitamin D supplementation on glucose metabolism, immune function and bone turnover in children with vitamin D deficiency

N El Fakhri , J McNeilly , M McMillan , M Le Brocq , Boroujerdi M , Halsey C , Ahmed S F , H McDevitt

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...

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ba0004p165 | (1) | ICCBH2015

Clinical masks of the tricho-rhino-phalangeal syndrome: based on the series of four cases from Poland

Matusik Pawel , Forys-Dworniczak Elzbieta , Kalina-Faska Barbara , Januszek-Trzciakowska Aleksandra , Malecka-Tendera Ewa

Background: Tricho-rhino-pharyngeal syndrome (TRPS) is a rare genetic disorder, which is characterized by craniofacial and skeletal abnormalities. Presenting problem: This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features (pear-shape nose, long flat philtrum, thin upper vermilion border, and protruding ears), thin, sparse scalp hair, and different skeletal abnormalities with normal mentation. All of the...

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ba0004p166 | (1) | ICCBH2015

The role of AMPK pathway in mediating the effects of metformin on mesenchymal stem cell differentiation

Chen Suet Ching , Brooks Rebecca , Ahmed Syed Faisal , Yarwood Stephen J

Introduction: Insulin sensitising agents are reported to have a diverse range of effects on bone with metformin exerting positive effects and thiazolidinenediones (TZDs) exerting negative effects. 5AMP-activated protein kinase (AMPK) plays a critical role in cellular energy homeostasis. It is widely expressed in the body and can be activated by metformin.Objective:: We investigated the role of AMPK pathway in mediating the effects of metformin on t...

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ba0004p167 | (1) | ICCBH2015

Muscle power and force are predictors of bone microarchitecture and strength in healthy children and adolescents measured by high resolution peripheral quantitative computed tomography and jumping mechanography

Riddell Amy , Solis-Trapala Ivonne , Prentice Ann , Ward Kate

Puberty is a time for the development of sexual dimorphism in bone and muscle. The aim of this study was to compare sex differences in bone and muscle variables using high-resolution peripheral QCT (HR-pQCT) and jumping mechanography (JM) in children and adolescents. We hypothesised that sex differences to muscle force and power (Fmax and Pmax) may explain differences in bone strength.Total cross-sectional area and density (Tt.CSA and D100), cortical bon...

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ba0004p168 | (1) | ICCBH2015

Ambulatory impairment and bone status in subjects with Rett Syndrome: a 10-year longitudinal study

Caffarelli Carla , Pitinca Maria Dea Tomai , Francolini Valentina , Hayek Joussef , Nuti Ranuccio , Gonnelli Stefano

Objective: Low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. The frequent occurrence of osteopenia raises questions regarding the direct influence of MECP2 gene mutations on bone growth and attainment of peak bone mass. It is well known that other critical factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition sta...

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ba0004p169 | (1) | ICCBH2015

Comparison of the response to bisphosphonate treatment between acute lymphoblastic leukaemia and osteogenesis imperfecta type I

Kumaran Anitha , Uday Suma , Ginige Nimasari , Sakka Sophia , Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: Osteoporosis in children with osteogenesis imperfecta (OI) type 1 and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Aim: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective case note review of children...

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ba0004p170 | (1) | ICCBH2015

Reduced spinal volumetric trabecular bone mineral density in adolescent girls with anorexia nervosa

Ehtisham Sarah , Whittaker Jane , Adams Judith , Mughal Zulf

Background: Anorexia nervosa (AN) presenting in childhood can have devastating implications for growth, puberty, menstruation and bone health. It may lead to altered bone structure and inadequate acquisition of bone mass with increased risk of fracture.Objective: To describe growth, pubertal and bone mineral density data in a cohort of adolescents with AN managed in a tertiary metabolic bone service.Methods: 62 adolescent females w...

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ba0004p171 | (1) | ICCBH2015

Bone-muscle unit assessment with pQCT in children with inflammatory bowel disease following treatment with Infliximab

Altowati Mabrouka , Malik S , Shepherd S , P McGrogan , RK Russell , SF Ahmed , SC Wong

Objective: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Methods: Prospective longitudinal study of 19 children (12 males), 17 crohns disease (CD), 1 ulcerative colitis (UC), 1 IBD unclassified (IBDU) of bone evaluation commencing treatment with IFX. Bone and muscle parameters were measured by pQCT at the non-dominant distal radius at 4 and 66% at baseline and 6 months. pQCT pa...

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ba0004p172 | (1) | ICCBH2015

The possibilities of bone regeneration in children

Michovich Michail , Glazkin Leonid , Lamnev Viktor

Introduction: Using the autograft bones in treatment orthopaedic diseases and trauma is common. However, cases of the large bone fragments autoplasty in acute trauma is rare. We have studied the case of succesfull autoplasty of the large tibial fragment in severe road accident.Materials and methods: Child O., born in 2000, was delivered to the emergency room of Mogilev City Hospital after road accident (he was hit by a car while crossing the street). His...

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ba0004p173 | (1) | ICCBH2015

Papilledema in a toddler: An atypical presentation of X-linked hypophosphatemic rickets

Wasserman Halley , Stenger Peggy

Background: X-linked hypophosphatemic rickets (XLH), the most common inherited rachitic disorder, is often misdiagnosed as nutritional rickets or physiologic bowing. Patients typically present in early childhood with progressive bowing deformities of the lower extremities and short stature, however may also develop craniosynostosis. Here we present a case of an adopted Caucasian male whose presentation of papilledema, craniosynostosis and hypophosphatemia eventually led to the...

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ba0004p174 | (1) | ICCBH2015

Case report of reversible cardiomyopathy secondary to 1 alpha hydroxylase deficiency

Cheung Moira , Braha Nirit , Beck-Nielsen Signe , Brain Caroline , Allgrove Jeremy

Background: Dilated cardiomyopathy is the leading cardiac cause of death in children. Treatment options include heart transplantation. Reversible causes are rare but hypocalcaemia secondary to vitamin D deficiency is a recognised cause and presents during infancy in at risk populations. Risk factors include babies who were breast fed, dark skinned and from mothers with vitamin D deficiency. We present an unusual case of vitamin D replete, hypocalcaemic cardiomyopathy secondary...

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ba0004p175 | (1) | ICCBH2015

Effect of baseline vitamin D status on serum 25(OH) D level and body composition in breastfed infants on vitamin D supplementation

Czech-Kowalska Justyna , Jaworski Maciej , Maksym Dorota , Nowakowska-Rysz Monika , Wygledowska Grazyna , Pawlus Beata , Zochowska Anna , Kornacka Maria , Dobrzanska Anna

Objectives: Vitamin D intake at a dose 400 IU/d is recommended for breastfed infants and is considered as sufficient. Vitamin D status is connected with bone mass and fat mass. We aimed to assess, if 400 IU/d has the same efficiency and impact on body composition in infants with different vitamin D status at birth (<20 ng/ml vs ≧20 ng/ml).Methods: 148 breastfed infants were supplemented with 400 IU/d of cholecalciferol up to 6 months of age. S...

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ba0004p176 | (1) | ICCBH2015

Evaluation of fibroblast growth factor 23 in patients with hypophosphataemic rickets

Park Julie , Khan Kursheed , Hatchard Lynne , Ramakrishnan Renuka , Senniappan Senthil , Fraser William , Dharmaraj Poonam

Objective: Hypophosphataemic rickets (HPR) is associated with high concentrations of fibroblast growth factor 23 (FGF23). Chronically elevated FGF23 may impact on cardiac function and the skeleton. There is little evidence on how FGF23 changes with time in HPR or how it is affected by treatment. The aim of this study was to evaluate changes in FGF23 concentrations over time in patients with HPR.Methods: Retrospective data was collected from our Metabolic...

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ba0004p177 | (1) | ICCBH2015

Fractures in boys with Duchenne muscular dystrophy and their relationship to age

Joseph Shuko , Dunne Jennifer , Di Marco Marina , Shepherd Sheila , Horrocks Iain , SF Ahmed , SC Wong

Objective: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) currently managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (216). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirmation....

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ba0004p178 | (1) | ICCBH2015

The precision of partial image analysis of trabecular bone microarchitecture by high-resolution magnetic resonance imaging in people with childhood-onset bone abnormalities

Chen Suet Ching , Abdalrahaman Naiemh , McComb Christie , Foster John , Ahmed Syed Faisal

Background and objective: High-resolution magnetic resonance imaging (hrMRI) can assess trabecular bone microarchitecture but the number of image slices required for reliable assessment is unclear.Methods: MRI was performed just below the growth plate of the proximal tibia from 20 healthy controls (all female; median age 21 years (range 1835) and 10 cases (three mals: seven females; median age 19.5 years (range 1648) with known bone abnormali...

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ba0004p179 | (1) | ICCBH2015

An atypical case of bone fragility and dysmorphism with an unusual and novel de novo COL1A1 mutation

Skae Mars , Rauch Frank , Mughal Zulf , Sims Jo , Davis Naomi , Scott B , Arundel Paul , Hobson Emma

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

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ba0004p180 | (1) | ICCBH2015

Rare diseases of bones, joints and vessels study

Forestier-Zhang Lydia , Barrett Joe , Wordsworth Paul , Luqmani Raashid , Bishop Nicholas , Kassim Javaid Muhammad

Background: There are currently 456 rare bone disease recorded within 40 groups. Within many of these diagnoses there is marked heterogeneity of severity and complications that is often not explained by current understanding of disease mechanisms. There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies based on understanding sub-phenotypes within existing diagnostic groups.Aim: To develop a nationa...

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ba0004p181 | (1) | ICCBH2015

Short stature in osteogenesis imperfecta: consider alternative diagnoses

Steele Caroline , Sultan Wajid , Bishop Nick , Ehtisham Sarah

Background: A 15 year old boy with antenatally diagnosed osteogenesis imperfecta (OI) was reviewed following concerns about poor linear growth, lack of pubertal development and persistent deciduous teeth. He had a history of crush fractures of L1L2 and previous intra-medullary rodding of his right femur and had been on oral bisphosphonates (Risedronate 70 mg once weekly). He was significantly short (height SDS −4.9), substantially below his genetic potential (targe...

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ba0004p182 | (1) | ICCBH2015

A case of moderate osteogenesis imperfecta with cerebral palsy spastic quadriplegia; an impossible combination, or is it?

Knowles Elizabeth

A 29 week pre-term female infant, Molly (not real name), was referred to our multi-disciplinary Metabolic Bone Disease Service at the age of 19 months, with a combined diagnosis of inherited osteogenesis imperfecta (OI) and cerebral palsy (CP) spastic quadriplegia, resulting from a intra-ventricular haemorrhage at 7 weeks-old.Diagnosis of OI was confirmed at birth following fractures. Molly was treated with IV Pamidronate from the age of 6 weeks at a loc...

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ba0004p183 | (1) | ICCBH2015

Deficits of vitamin D are strongly associated with methotrexate treatment in patients with juvenile idiopathic arthritis

Goralczyk Adrian , Konstantynowicz Jerzy , Abramowicz Pawel , Dobrenko Elzbieta , Babinska-Malec Edyta

Vitamin D deficiency has been reported in adult patients with autoimmune diseases including rheumatoid arthritis, however, the data in patients with juvenile idiopathic arthritis (JIA) are inconsistent. The aim of the study was to assess serum 25-hydroxyvitamin D (25(OH) D in children and adolescents with JIA, and to determine potential risk factors for vitamin D deficiency.In this cross-sectional study, we evaluated 189 patients with JIA (113 girls, 76 ...

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ba0004p184 | (1) | ICCBH2015

A subtrochanteric femoral stress fracture following bisphosphonate treatment in an adolescent girl

Boyce Alison , Tosi Laura , Gafni Rachel

Background: Bisphosphonates are increasingly used to treat disorders of low bone mineral density (BMD) in children and adolescents. Long-term bisphosphonate use in adults has been associated with and increased risk of atypical subtrochanteric and diaphyseal femoral fractures (AFFs). To date, bisphosphonate-related AFFs have not been reported in children or adolescents.Presenting problem: A 16-year-old girl presented with a 3-week history of left thigh pa...

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ba0004p185 | (1) | ICCBH2015

The effect of iron chelators on bone health in patients with thalassemia

Fung Ellen , Luo Nan , Gildengorin Ginny , Lal Ashutosh

Thalassemia (Thal) is a genetic disorder of hemoglobin synthesis. In its most severe form patients require chronic blood transfusions to sustain life leading to iron overload unless excess iron is removed by chelators. Deferasirox (DFX) and deferoxamine (DFO) are the two most common chelators. DFX has recently been shown to reduce osteoclast activity in vitro.Objective: To explore the association between chelation therapy, bone density and verte...

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ba0004p186 | (1) | ICCBH2015

Cole-Carpenter syndrome

Balasubramanian Meena , Bishop Nick

Cole-Carpenter syndrome (OMIM 112240) is characterised by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus and a distinctive facial appearance. Intelligence is reported to be normal. In 1986, Cole and Carpenter reported two unrelated infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe osteogenesis imperfecta (OI). In addition, these patients also had proptosis, blue sclerae, hydrocephalus and a distinct facial g...

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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</...

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ba0004p188 | (1) | ICCBH2015

Fractures, bone mass and geometry in black and white South African children: The Birth to Twenty cohort

Thandrayen Kebashni , Schoenbuchner Simon , Ward Kate , Micklesfield Lisa , Norris Shane , Prentice Ann , Pettifor John

The prevalence of fractures in white children in South Africa is double that of black children (1). White males who fractured were shown to be more physically (2). The aim of this study was to compare the bone mass and geometry measures using peripheral quantitative computed tomography (pQCT) and dual energy x-ray absorptiometry (DXA) in black and white children with and without a history of fracture to determine the risk factors for fractures.Lifetime f...

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ba0004p189 | (1) | ICCBH2015

Two infants with the diagnosis of infantile hypophosphatasia: case report

Akyurek Nesibe , Atabek Mehmet Emre , Eklioglu Beray Selver

Hypophosphatasia is an autosomal recessive rare metabolic disorder characterized by decreased bone mineralization. It can be seen in infancy, childhood or adolescence. Disease occurs due to the loss of non-specific alkaline phosphatase activity in liver, kidney and bones. There is no specific treatment. Two infants with growth retardation and failure to thrive diagnosed as infantile hypophosphatasia are presented.Our cases had abnormalities including sho...

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ba0004p190 | (1) | ICCBH2015

Bone quality and quantity in Duchenne Muscular Dystrophy patients

Del Rio Luis , Winzenrieth Renaud , Di Gregorio Silvana

The aim of the study is to evaluate bone quantity (aBMD) and bone quality as assessed by TBS in DMD subjects.43 boys and girls suffering from DMD with a mean age 10.5±3.7 years and height and weight z-score (Zc) medians of −0.67 and 0.25 S.D. were included in the study. Spine DXA scans were obtained using a GE Lunar iDXA with software v13.31. Lumbar spine trabecular bone texture (TBS) was determined using Med-Imaps cust...

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ba0004p191 | (1) | ICCBH2015

Evolution of bone quality and quantity in patients suffering from Duchenne Muscular Dystrophy

Del Rio Luis , Di Gregorio Silvana , Winzenrieth Renaud

The aim of the study is to evaluate, across time, if a bone microarchitectural texture modification exists or not and to evaluate its associations with other bone and body composition parameters.16 Spanish children suffering from DMD with a mean age 9.7±3.0 years and height and weight z-score of −0.76 and 0.16 SD were included in the study. Spine DXA scans and body composition scans were obtained using a GE Lunar Prodigy at baseline, ...

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ba0004p192 | (1) | ICCBH2015

Low bone mineral density and fractures are prevalent in children with spinal muscular atrophy

Wasserman Halley , Hornung Lindsey , Stenger Peggy , Rutter Meilan , Wong Brenda , Rybalsky Irina , Khoury Jane , Kalkwarf Heidi

Objectives: Spinal muscular atrophy (SMA) results in varying degrees of hypotonic immobility. Prior reports demonstrate an increased risk of fracture and a trend toward low bone mineral density (BMD) in this population. We aim to further characterize bone health in paediatric SMA patients by reporting the prevalence of fractures and low BMD (z-score≤−2.0) by SMA subtype, BMD of the lateral distal femur (LDF; an important fracture location in non-ambulatory...

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ba0004p193 | (1) | ICCBH2015

Aggravated bone density decline following symptomatic osteonecrosis in children with acute lymphoblastic leukemia

den Hoed MAH , SMF Pluijm , de Groot-Kruseman HA , Fiocco M , Hoogerbrugge P , JA Leeuw , MCA Bruin , van der Sluis IM , Bresters D , MH Lequin , JC Roos , AJP Veerman , Pieters R , van den Heuvel-Eibrink MM

Objectives: Osteonecrosis (ON) and decline of bone mineral density (BMD) are serious side effects during and after treatment of childhood acute lymphoblastic leukemia (ALL). It is unknown whether ON and low BMD co-occur in the same patients, and whether these two osteogenic side-effects can mutually influence each others development.Methods: BMD and the incidence of symptomatic ON were prospectively assessed in a national cohort of 466 patients wit...

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ba0004p194 | (1) | ICCBH2015

Results of conservative treatment in patients with phosphate diabetes

Martsyniak Stepan , Guk Iurii , Tamara Kinchaya-Polishchuk , Zyma Andrii , Stewart David G , Bondariev Gennadii , Pankina Olha

Objective: Bone metabolism was studied in patients with phosphate diabetes before and after medication.Methods: 39 patients with phosphate diabetes age 218 years (7.8±4 years, 64% male) and multiplanar deformities of the lower extremities were treated with monthly vitamin D (2000 IU/day), alfacalcidol (0.25 mg/every other day) and calcium glycerophosphate (600 mg/day) for 6 months.Biochemical indices were evaluated befor...

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ba0004p195 | (1) | ICCBH2015

Increase of bone mineral density in patients with osteogenesis imperfecta treated with pamidronate disodium.

de Menezes Filho Hamilton Cabral , de Brito Pupo Joyce , de Magalhaes Velasco Bastos Paula , Ae Kim Chong , Bertola Debora Romeo , Ito Simone Sakura , dos Santos Tiago Jeronimo , Setian Nuvarte , Damiani Durval

Objective: This study aimed to evaluate the efficacy of the treatment with pamidronate disodium (PD) with respect to the increase of bone mineral density (BMD) in patients with osteogenesis imperfecta (OI).Patients and methods: We evaluated nine patients (six boys) with OI (four with type III, four with type IV, one with type I) treated with PD from 4.68 to 7.92 years (mean±S.D.: 6.75±1.38 years). Intravenous PD was administered ...

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ba0004p196 | (1) | ICCBH2015

Early onset cataract in an infant with activating calcium sensing receptor mutation

Ramaswamy Priya , Ryalls Michael , Allgrove Jeremy

Background: A 3 month-old boy was born at term, to non-consanguineous parents by spontaneous vaginal delivery, in good condition, weighing 4.19 kg. Newborn examination, including eyes, was normal prior to discharge. He has two older brothers in good health.Presenting problem: He was admitted at 7 days of life with focal seizures and hypocalcaemia (1.5 mmol/l), hypomagnesaemia (0.6 mmol/l), hyperphosphataemia (3.7 mmol/l) and inappropriately low parathyro...

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ba0004p197 | (1) | ICCBH2015

Benign osteopetrosis associated with homozygous mutation in CLCN7

Allgrove Jeremy , Mathew Satheesh , Buxton Chris C , Williams Maggie

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...

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ba0004p198 | (1) | ICCBH2015

Impaired mobility and pain significantly impact the quality of life of children with X-linked hypophosphatemia

Linglart Agnes , Dvorak-Ewell Melita , Marshall Ayla , Martin Javier San , Skrinar Alison

X-linked Hypophosphatemia (XLH), the most common heritable form of rickets, is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Affected children present with hypophosphatemia resulting in rickets, bowing of the legs and short stature. Limited information is available about the disease burden in children with XLH...

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ba0004p199 | (1) | ICCBH2015

LRP5-associated high bone mass disorder: novel familial mutation in LRP5 and investigation of bone mineralization density distribution (BMDD)

Roetzer Katharina M , Uyanik Goekhan , Brehm Attila , Zwerina Jochen , Zandieh Shahin , Czech Thomas , Roschger Paul , Klaushofer Klaus

Mutations in LRP5 cause a variety of phenotypes, including high bone mass and low bone mass disorders. In patients with high bone mass, different heterozygous mutations have been described, all of them clustering in a region including the binding pocket for DKK1 and sclerostin. The pathogenic mechanism is thought to be a gain-of-function mediated by an impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone modelling.<p class="abstext...

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ba0004p200 | (1) | ICCBH2015

Relationship of lipid parameters and insulin resistance with bone health in South Korean adolescents

Kim Do-Hoon , Park Sang-Woon , Jung Dong-Wook , Yoon Su-Jung , Han Kyungdo , Park Yong-Gyu , Choi Jun-Seok , Lee Jong-Eun , Sang Jung-Eun , Nam Ga-Eun , Yoon Yeo-Joon

Objectives: To prevent future osteoporosis, it is important to identify factors that affect bone health in adolescents as well as adults. This study aimed to examine the relationship between lipid profiles and insulin resistance and BMC in Korean adolescent population.Methods: Data from 706 boys and 621 girls who participated in the Korea National Health and Nutrition Examination Survey from 2008 to 2011 were analyzed. Lipid profiles were measured, and h...

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ba0004p201 | (1) | ICCBH2015

The results of pamidronate treatment independently and in combination with surgery in patients with osteogenesis imperfecta.

Zyma Andrii , Guk Iurii , Gayko Oksana , Magomedov Oleksandr , Kinchaya-Polishchuk Tamara , Stewart David , Cheverda Andriy , Demyan Yuriy

Introduction: The effectiveness of intravenous pamidronate was assessed independently and in combination with corrective osteotomy surgery for lower extremity deformities in children with osteogenesis imperfecta.Methods: Orthopaedic treatment was conducted in 21 patients with OI (type Iten patients, type III11 patients), including 13 males and eight females with mean age 9.4±0.6. All patients received calcium supplements and active forms...

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