(1) | 0002 | ICCBH2013 | 6th International Conference on Children's Bone Health

ba0002p1 | (1) | ICCBH2013

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ba0002p2 | (1) | ICCBH2013

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ba0002p3 | (1) | ICCBH2013

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ba0002p4 | (1) | ICCBH2013

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ba0002p5 | (1) | ICCBH2013

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical and molecular genetic findings

Al-Mayouf Sulaiman , Albuhairan Intisar

Objectives: To describe the clinical, laboratory, radiological and genetic findings of camptodactyly-arthropathycoxa vara-pericarditis (CACP) syndrome in Saudi children.Methods: Medical records of all children with CACP syndrome seen between June 1990 and June 2012 at KFSHRC-Riyadh were reviewed. The data included: gender, age at disease onset, referral diagnosis, clinical and radiological features and molecular genetic studies as well as functional stat...

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ba0002p6 | (1) | ICCBH2013

The relationship between bone health and body composition profile in patients with galactose metabolic disorders: implications for practice

Doulgeraki Artemis , Monopolis Ioannis , Deligianni Domna , Kalogerakou Maria , Schulpis Kleopatra

Objectives: To evaluate bone health and its possible correlations to body composition parameters in young patients with galactose metabolic disorders, aiming to suggest appropriate lifestyle interventions.Methods: We studied 22 patients, aged 516 years with galactose metabolic disorders, detected by neonatal screening. Fourteen suffered from classic galactosemia and eight from other galactose metabolic disorders (i.e. epimerase or galactokinase def...

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ba0002p7 | (1) | ICCBH2013

Osteometric parameters of mature rats mandible molars when implanted in the tibia biogenic hydroxyapatite, saturated with iron

Vladislav Luzin , Vitaly Morozov , Helen Morozova

Objectives: The aim of the study was to examine experimentally the possibility smoothing of adverse effects of «fracture syndrome» in the parameters of the growth of the molar row of the mandible with implant in the proximal tibial shaft biogenic hydroxyapatite, saturated with iron at concentrations of 0.05, 0.15 and 0.50%.Methods: For the experiment were collected 168 white mature male rats were divided into four groups: 1st group, animals tha...

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ba0002p8 | (1) | ICCBH2013

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia

Hofmann Christine , Liese Johannes , Girschick Hermann , Jakob Franz , Mentrup Birgit

Background: Hypophosphatasia (HPP) is a heterogeneous rare, inherited disorder of bone and mineral metabolism caused by different mutations in the ALPL gene encoding the isoenzyme, tissue-nonspecific alkaline phosphatase (TNAP). Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease. TNAP, a ubiquitous enzyme, is mostly known for its role in bone mineralization. TNAP deficiency, however, may als...

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ba0002p9 | (1) | ICCBH2013

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

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

Objectives: To study acceptance and the effects on bone during a 6-month whole body vibration (WBV) therapy in severely disabled children.Methods: Nineteen patients, age 516 years, with severe motor disabilities completed the 6-month WBV therapy standing on a self-controlled dynamic platform with vibration, jumps and rotation. The WBV was performed twice per week at 4042 Hz. Bone mass and biochemical markers were measured at start and after 6...

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ba0002p10 | (1) | ICCBH2013

Osteoporosis in young patients with neurological impairments

Yaghi Yasser , Horr Fatiha E L , Mousa Youssef , Yaghi Kinda , Hneineh Zeinab

Aim: Osteoporosis and resulting spontaneous fractures in young patients with neurological impairments living outside institutions have not received much attention. The aim of this study was to determine the degree of demineralization in children and teens with such disabilities living in South Lebanon, an under privileged region.Subjects and methods: We reviewed 40 patients attending outpatient clinics in a referral rehabilitation center in South Lebanon...

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ba0002p11 | (1) | ICCBH2013

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ba0002p12 | (1) | ICCBH2013

DXL measurements in children 2–10 years

Soderpalm Ann-Charlott , Kullenberg Ragnar , Wikland Kerstin Albertsson , Swolin-Eide Diana

Objectives: To generate pediatric reference values for calcaneal bone mineral density (BMD) in healthy 210 years old Swedish children.Methods: Dual energy X-ray absorptiometry (DXA) in combination with a laser measurement of the heel thickness, DXL Calscan (Demetech AB), measures bone mass in the calcaneus and an apparent density (BMAD) is calculated. Healthy, Swedish children were included. The left foot was scanned in 117, 2-year-old; 110, 4-year...

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ba0002p13 | (1) | ICCBH2013

Bone turnover compensates for the delayed growth in small for gestational age neonates

Tenta Roxane , Bourgiezi Ifigeneia , Aliferis Evangelos , Papadopoulou Magda , Gounaris Antonis , Skouroliakou Maria

Objectives: To investigate the possible relationship between neonatal anthropometric characteristics and bone turnover and growth markers in a sample of neonates and their mothers, taking into account the size for the gestational age.Methods: A sample which consisted of 20 small for the gestational age (SGA), appropriate for the gestational age (AGA), and large for the gestational age (LGA) randomly selected term neonates and their 20 mothers were analyz...

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ba0002p14 | (1) | ICCBH2013

Bone status and body composition analysis in young patients with phenylketonuria and hyperphenylalaninemia

Doulgeraki Artemis , Monopolis Ioannis , Skarpalezou Astrinia , Theodosiadou Areti , Schulpis Kleopatra

Objectives: To evaluate bone status and body composition in patients with phenylketonuria and hyperphenylalaninemia.Methods: Eighty patients (48 with phenylketonuria and 32 with hyperphenylalaninemia), aged 518 years, early-diagnosed, underwent dual energy X-ray absorptiometry. Bone mineral density (lumbar spine and total body), bone strength (bone mineral content:lean tissue mass ratio), lean tissue mass, body fat percentage, and fat mass index we...

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ba0002p15 | (1) | ICCBH2013

Osteogenesis imperfecta-bone mass acquisition under bisphosphonates treatment and additional gain in BMD in time of rhGH treatment for growth delay

Galesanu Corina , Zaharia Valentin , Apostu Luminita

Objectives: Patients with osteogenesis imperfecta (OI) type IA have a mild phenotype with normal or near-normal height. The addition of recombinant human GH (rhGH) to ongoing treatment with bisphosphonates can increase measures of BMD and growth. We studied growth rate bone density and bone metabolism in two girls affected by OI type IA and growth delay.Materials and methods: Eight children (six girls and two boys) with OI type IA were treated with Rised...

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ba0002p16 | (1) | ICCBH2013

Bone size and bone mineral content in adolescents and young adults with eating disorders

Shepherd Sheila , Ahmed Syed Faisal , Oakley Charlotte , Thrower Michelle , Shaikh Guftar

Objective: The incidence of eating disorders has increased in 1519 years old1. There is growing concern as to its impact on bone health during adolescence where peak bone mass acquisition is of paramount importance. This paper describes bone size and size adjusted bone mineral content in an adolescent/young adult eating disorder population.Methods: A total of 68 patients (63 F/5 M, 90% anorexia nervosa and 10% atypical eating disorder), ...

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ba0002p17 | (1) | ICCBH2013

The optimal dose of vitamin D in growing girls during academic years: a randomized trial

Tefagh Samane , Shakiba Mehrdad , Nafei Zahra

Objectives: Vitamin D is an essential hormone for growth and development of bones in children. Prevalence of vitamin D deficiency is remarkable during childhood and adolescence throughout the world. The aim of this study was to specify the optimal dose of vitamin D in growing girls during an academic year in a sunny city.Materials and methods: This randomized clinical trial study was carried out in Yazd in the Center of Iran in 2007; 120 junior high scho...

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ba0002p18 | (1) | ICCBH2013

Influence of anthropometric parameters on assessment of paediatric bone mineral density and bone mineral content

Hangartner Thomas N , Short David F , Gilsanz Vicente , Kalkwarf Heidi J , Lappe Joan M , Oberfield Sharon , Shepherd John A , Zemel Babette S , Winer Karen

Objectives: Creation of reference curves for areal bone mineral density (aBMD) and bone mineral content (BMC) with consideration of relevant anthropometric variables.Methods: Analysis of the dual-energy X-ray absorptiometry (DXA) data collected as part of the Bone Mineral Density in Childhood Study1, including 2012 boys and girls, 522 years old, with a total of 10 525 visits, resulting in aBMD and BMC observations at the lumbar spine, hi...

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ba0002p19 | (1) | ICCBH2013

Positive correlation of serum vitamin D status with bone density and bone quality among adolescent girls in Hong Kong

Cheung Tsz Fung , Yu Wing Sze , Lam Tsz Ping , Chan Ka Yan , Yu Fiona Wai Ping , Ng Bobby Kin Wah , Lee Simon Kwong Man , Qin Ling , Cheng Jack Chun Yiu

Objectives: Vitamin D is essential for bone modeling/remodeling but the relationship between vitamin D status, bone mineral density (BMD) and bone quality parameters remains controversial especially in adolescent population. The aims of this study wase to evaluate the vitamin D status and its correlation with BMD and bone quality parameters among adolescent girls in Hong Kong where information is lacking.Methods: 156 adolescent girls (1115 years ol...

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ba0002p20 | (1) | ICCBH2013

Assessment of vitamin D nutrition status and dietary calcium intake in children 2–5 years of age

Kureel Priyanka , Seth Anju , Singh Ritu , Marwah R K , Aneja Satvinder

Objectives: To assess the vitamin D nutrition status of healthy children in the age group 25 years and to assess the daily dietary calcium intake of these children.Methods: A total of 100 healthy children (age group 25 years) were studied in this cross sectional study. Dietary calcium and energy intake was estimated using 24 h dietary recall method. Average sun exposure over last 3 days was assessed by calculating u.v. score. Biochemical para...

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ba0002p21 | (1) | ICCBH2013

Bone disease in children with geroderma osteodysplasticum: a 25-year experience from a single tertiary centre

Gopal-Kothandapani J S , Padidela R , Clayton-Smith J , Chandler K E , Adams J E , Freemont A J , Mughal M Z

Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder characterised by progeria like facies, wrinkled lax skin, joint hypermobility, congenital dislocation of hips and propensity to fragility fractures. In the past 25 years, five patients (three females and two males) diagnosed with GO were referred to our Paediatric metabolic bone service for assessment and management of secondary bone problems. All five children were born to consanguineous...

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ba0002p22 | (1) | ICCBH2013

Association of volumetric bone mineral density, bone morphometry and trabecular bone micro-architecture with leptin and soluble leptin receptor in adolescent idiopathic scoliosis

Tam Elisa M S , Yu Fiona W P , Hung Vivian W Y , Liu Zhen , Lam Tsz-Ping , Liu King Lok , Ng Bobby K W , Lee Simon K M , Qiu Yong , Cheng Jack C Y

Objectives: Low bone mass in adolescent idiopathic scoliosis (AIS) has been well reported, however the etiologies of the disease and this abnormal phenotype were still unknown. Leptin have profound effects on bone metabolism and skeletal growth, and was speculated to play a role in the etiopathogenesis of AIS. The objective of this study was to investigate the bone quality in AIS and its association with leptin and soluble leptin receptor (sOB-R).Methods...

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ba0002p23 | (1) | ICCBH2013

Drop in allograft function associates with drop in bone mineral density Z-score in pediatric renal transplant recipients

Anyaegbu Elizabeth , Zheng Jie , Hmiel Stanley , Dharnidharka Vikas

The high prevalence of renal osteodystrophy (ROD) in pediatric renal transplant recipients has been linked to the duration on dialysis pre transplant, exposure to steroids, nutritional deficiencies, limitations in physical activity and ethnicity. The incomplete resolution of ROD in transplant recipients has been found to be associated persistent abnormalities in mineral metabolism associated with allograft dysfunction in the post transplant period.We hyp...

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ba0002p24 | (1) | ICCBH2013

Effects of endurance training on somatic growth in a rat model of chronic kidney disease related growth retardation

Landau Daniel , Guterman Maayan , Yahalom Ari , Troib Ariel , Rabkin Ralph , Segev Yael

Objectives: CKD in children is associated with suppressed body growth. Physical activity has been previously shown to increase expression of IGF1 signaling in muscles of rats with CKD, but the effects of this intervention on bone tissue have not been investigated yet. The purpose of this study was to examine the effects of aerobic exercise on CKD related bone disease.Methods: Twenty-day old/50 g male rats underwent a two step subtotal nephrectomy (Nx) or...

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ba0002p25 | (1) | ICCBH2013

Maternal bone density and rickets in Nigerian children

Hsu Jennifer , Fischer Philip , Pettifor John , Thacher Thomas

Objectives: While nutritional rickets is traditionally associated with vitamin D deficiency, a number of other etiological factors have been proposed, including low calcium intake. Maternal nutrition can affect fetal and infant skeletal growth and development. Our aim was to determine the relationship between maternal bone density and rickets in Nigerian children.Methods: We measured areal forearm bone mineral density (BMD) in 56 and 131 mothers of child...

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ba0002p26 | (1) | ICCBH2013

Improvement in genu valgus deformity in hypophosphatemic rickets due to primary de Toni-DebrDebré-Fanconi syndrome treated with phosphate, calcitriol and alkali therapy

Bowden Sasigarn , Patel Hiren , Beebe Allan , McBride Kim

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...

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ba0002p27 | (1) | ICCBH2013

Randomized-controlled study in kidney transplanted children: early corticoids withdrawal and effect on bone health recovery

Reyes Maria Loreto , Mericq Veronica , Salas Paulina , Pinto Viola , Cano Francisco , Gonzalez Magdalena , Brown Keenan , Delucchi Angela

Background: Glucocorticoid immune suppression in kidney transplanted children jeopardizes optimal bone health recovery. So far, there are no studies that evaluate the effect of transplant and corticoid in bone parameters separately.Objective: To determine the effect of early corticosteroid withdrawal in bone parameters.Methods: Randomized, controlled study; two groups: corticosteroid withdrawal (at the 6th day post-transplant, then...

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ba0002p28 | (1) | ICCBH2013

Vitamin D insufficiency and its correlation with low bone mass in adolescent idiopathic scoliosis

Lam Tsz Ping , Yu Fish Wing Sze , Mak Queenie Wah Yan , Cheung Franco Tsz Fung , Lee Kwong Man , Ng Bobby Kin Wah , Qin Ling , Cheng Jack Chun Yiu

Objectives: AIS is associated with both low bone mass and elevated serum bone alkaline phosphatase. The greater the latitude of the geographical region, the higher is the prevalence of AIS. These specific features were compatible with the presence of either Vit-D insufficiency or abnormal physiology with Vit-D. It is important to evaluate these potentially treatable conditions regarding their roles in the etiopathogenesis of AIS. The objectives of this case-control study were ...

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ba0002p29 | (1) | ICCBH2013

Coping with osteogenesis imperfecta; what kind of difficulties are families living with?

Arabaci Leyla Baysan , Bozkurt Sati , Vara Senay , Ozen Samim , Goksen Damla , Darcan Sukran

Aim: Osteogenesis imperfecta (OI) the most common genetic disorder of bone is characterized by frequent, unpredictable fractures of long bones with progressive skeletal deformity. Although patients with OI are severely affected physically, this disorder may have a profound influence on patients and their families. This report reviews the extent of this influence, which includes the emotional burdens, the social costs of immobilization and repeated hospitalization.<p class=...

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ba0002p30 | (1) | ICCBH2013

The effect of psychoeducation in families with osteogenezis imperfecta

Bozkurt Sati , Arabaci Leyla B Aysan , Vara Senay , Ozen Samim , Darcan Sukran , Goksen Damla

Aim: To investigate the effect of psychoeducation program in families with osteogenesis imperfecta (OI).Methods: Sixteen family members of OI patients were included in the program. The research was designed as a semi structural, semi experimental pre and post test. The scales used were; Introductory Information Form, Burden Interview (BI), Coping Strategies Scale (CSS), Problem Solving Inventory (PSI), and Psychosocial Adjustment to Illness Scale (PAIS)....

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ba0002p31 | (1) | ICCBH2013

Craniofacial consequences of high dose zoledronic acid injections in onco-pediatric patients

Lezot Frederic , Chesneau Julie , Battaglia Severine , Brion Regis , Farges Jean-Christophe , Heymann Dominique , Redini Francoise

Background: High doses of zoledronic acid (ZOL), one of the most potent inhibitors of bone resorption; is currently evaluated in a phase III clinical trial in Europe for the treatment of malignant pediatric primary bone tumors. The impact of such an intensive treatment on the craniofacial skeleton is a critical question in the context of patients with actively growing skeleton; in particular in the light of our previous studies evidencing that endochondral bone formation was t...

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ba0002p32 | (1) | ICCBH2013

The effect of vitamin D supplementation on calcium excretion in thalassemia

Balachandar Sadana , Vogiatzi Maria , Giardina Patricia , Sheth Sujit , Kleinert Dorothy , Randolph Rachel

Objective: Transfusion dependent thalassemia (TM) patients have routinely been placed on vitamin D supplementation due to their increased risk of osteoporosis, as well as their high rates of vitamin D deficiency (serum 25 hydroxyvitamin D (25-OHD) <11 ng/ml) and insufficiency (25-OHD <30 ng/ml). Furthermore, recent studies have linked 25-OHD levels to hypercalciuria and nephrolithiasis in TM. The objective of this study is to determine the effect of vitamin D supplemen...

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ba0002p33 | (1) | ICCBH2013

Patients with mutations in PHEX or FGF23 share FGF23 excess but present distinct bone and mineral metabolism features

Theret Claire , Esterle Laure , Souchon Pierre-Francois , Allain-Launay Emma , Roussey Gwennaelle , Deschenes Georges , Chaussain Catherine , Rothenbuhler Anya , Prie Dominique , Silve Caroline , Kamenicky Peter , Linglart Agnes

Mutations in PHEX and specific missense mutations of FGF23 result in elevated circulating FGF23 and hypophosphatemic rickets, respectively X-linked hypophosphatemic rickets (XLHR) and autosomal dominant HR (ADHR). FGF23, secreted by osteoblasts and osteocytes, regulates phosphate handling and vitamin D metabolism through its action on kidney. Extra renal effects of FGF23, including bone, have been very recently suspected mainly from overexpression or underexpression of FGF23 i...

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ba0002p34 | (1) | ICCBH2013

Reliability of pQCT scan protocol of second metatarsal for children with juvenile idiopathic arthritis

Greene David , Chaplais Elodie , Hendry Gordon , Hood Anita , Schiferl Dan

Juvenile idiopathic arthritis (JIA) is associated with low bone mass, poor bone strength, and an increased fracture risk. Children with JIA enter adulthood with suboptimal bone mass. In children with JIA, fracturing of the 2nd metatarsal is common due to poor bone strength. Currently no gold standard measure exists for bone quality in the foot. A reproducible protocol is required to assess key bone outcomes at the 2nd metatarsal using pQCT.Objective: To ...

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ba0002p35 | (1) | ICCBH2013

Six-monthly i.v. zoledronic acid in childhood osteoporosis

Biggin Andrew , Ooi Hooi Leng , Briody Julie , Cowell Chris , Munns Craig

Objectives: Childhood osteoporosis can be treated with i.v. bisphosphonates in order to improve bone mass and density. The aims of this study were to evaluate the safety and efficacy of 6-monthly zoledronic acid (ZA) in children with osteoporosis.Methods: A retrospective cohort study of 27 patients (16 males and 11 females) were treated with 6-monthly ZA (0.05 mg/kg per dose) for a minimum of 1 year. Seventeen patients were immobile, 4 had steroid-induce...

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ba0002p36 | (1) | ICCBH2013

Vitamin D deficiency and its relationship to parathyroid hormone in morbidly obese adolescents prior to bariatric surgery

Censani Marisa , Stein Emily , Shane Elizabeth , Oberfield Sharon , McMahon Donald , Lerner Shulamit , Fennoy Ilene

Objectives: Obese adults commonly have vitamin D deficiency and secondary hyperparathyroidism prior to bariatric surgery. Whether similar metabolic abnormalities exist in morbidly obese adolescents is not known. This study investigated the prevalence of vitamin D deficiency and evaluated the relationship between vitamin D and parathyroid hormone (PTH) in morbidly obese adolescents undergoing evaluation for bariatric surgery.Methods: A cross-sectional stu...

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ba0002p37 | (1) | ICCBH2013

Reduction in bisphosphonate side effect profile using short-term steroid cover

Biggin Andrew , McLean Tina , McQuade Mary , Cowell Chris , Munns Craig

Objectives: Bisphosphonate infusions are associated with numerous adverse effects including acute systemic inflammatory reactions and electrolyte abnormalities. The aims of this study were to evaluate the safety and efficacy of a 3-day course of prednisone on children receiving their first dose of pamidronate or zoledronic acid.Methods: A retrospective cohort of 166 patients (85 males) were commenced on pamidronate (16%) or zoledronic acid (84%) for trea...

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ba0002p38 | (1) | ICCBH2013

Abnormal bone quality in both cortical and trabecular compartments in adolescent idiopathic scoliosis

Yu Wing Sze , Chan Ka Yan , Ping Wai , Yu Fiona , Lee Kwong Man , Ng Kin Wah , Lam Tsz Ping , Qin Ling , Yiu Chun , Cheng Jack

Introduction: Adolescent idiopathic scoliosis (AIS) is associated with osteopenia, which was found to be a significant prognostic factor for curve progression. However, in-depth quantitative assessment of bone quality was previously hampered by invasive nature of the investigations. The recently available high-resolution pQCT (HR-pQCT) allows a three-dimensional assessment of the bone quality in-vivo. This study aimed to evaluate and compare the bone quality in AIS gi...

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ba0002p39 | (1) | ICCBH2013

Prevalence of vitamin D deficiency in adolescent Muslim girls attending a school in the UK, which adheres to a conservative dress code

Lukman S , Syahanee R , Berry J L , Mughal M Z

Aim: To determine the prevalence of vitamin D deficiency among adolescent Muslim girls attending a school in the UK, which adheres to a conservative dress code.Methods: Fifty-six (31%) out of 180 girls attending a Muslim High School for Girls (median age 13.2years, (IQR 12.513.8 years)) took part in this cross-sectional study. Seventy-nine percent (n=45) were of South Asian origin, 3.5% were Black African origin (n=2), 1.8% was Mi...

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ba0002p40 | (1) | ICCBH2013

Altered bone metabolism in obese children: the pathogenic role of adipocytokines and inflammation

Abramowicz Pawel , Konstantynowicz Jerzy , Werpachowska Irena , Jamiolkowski Jacek , Kaczmarski Maciej , Piotrowska-Jastrzebska Janina

Objective: Associations between childhood obesity and disturbed bone metabolism have been extensively studied. Both RANK/RANKL/OPG and adipocytokines are involved in bone metabolism in obese individuals although published data remain inconsistent. Some reports show evidence of protective role of adiposity in the maintenance of skeletal mass, whereas others fail to support this evidence or even demonstrate an increased fragility. The aim of the study was to assess bone metaboli...

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ba0002p41 | (1) | ICCBH2013

Management of a new case of neonatal hypocalciuric hypercalcemia related to mutation of the calcium-sensing receptor gene with bone abnormalities

Edouard Thomas , Mouly Celine , Mimoun Emmanuelle , Gennero Isabelle , Magdelaine Corinne , Salles Jean Pierre

Background: A 5-month-old girl was referred to our unit after a systemic screening for hip dislocation by X-rays revealed bilateral femoral bowing. She was the first child of healthy non-consanguineous parents, and her family history was unremarkable. Her parents had a normal physical examination, and normal laboratory findings. At presentation, her height was 64.0 cm (Z-score: 0.0) with a regular height velocity. Weight was 7.4 kg (Z-score: 1.0). On physical...

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ba0002p42 | (1) | ICCBH2013

The effect of glucocorticoids on bone indices in children with rheumatic and oncological conditions

Harrington Jennifer , Sochett Etienne , Grynpas Marc

Children with chronic medical conditions are at increased risk for bone fragility from multiple mechanisms, related both to the underlying condition and its treatment, in particular glucocorticoids. The differential effects of the underlying medical disease on bone micro-architecture have not been well elucidated.Objectives: To describe the bone micro-architectural characteristics in children with rheumatic and oncological disorders treated with glucocor...

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ba0002p43 | (1) | ICCBH2013

Bone quality in young thalassaemic patients

Argentiero Alberto , Agnello Nadia , Neglia Cosimo , Chitano Giovanna , Rosa Alessandra Della , Quarta Giovanni , Quarta Antonella , Piscitelli Prisco , Distante Alessandro

Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at A. Perrino...

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ba0002p44 | (1) | ICCBH2013

A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

van der Eerden Bram , van der Heyden Josine , Hamburger Jan Piet , Schreuders-Koedam Marijke , Asmawidjaja Patrick , de Muinck Keizer-Schrama Sabine , Lubberts Erik , van Leeuwen Johannes , Drop Stenvert

In this case report, we present a brother and sister with hereditary vitamin D resistant rickets (HVDRR). Both children presented at the age of 18 months with severe rickets and elevated serum levels of 1,25-(OH)2D3. They differ from each other in that the girl presented with hypophosphatemia instead of hypocalcemia. Besides, she developed alopecia earlier than the boy and needed more 1,25-(OH)2D3 supplementation. Interestingly, the ...

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ba0002p45 | (1) | ICCBH2013

Bone mineral density impairment in marfan syndrome: a hidden and neglected issue

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Objectives: Marfan syndrome (MFS) is a connective disorder caused by mutations in FBN1 gene which encodes the extracellular matrix protein fibrillin 1. Pathogenesis relies on a dysregulation of activated TGF-β. Cardiovascular, ocular and skeletal systems are involved with a variable expressivity. Findings evolve with age, making the diagnosis in children more difficult. Skeletal involvement includes disproportionate long bone overgrowth, scoliosis, and chest deformity. Al...

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ba0002p46 | (1) | ICCBH2013

Interactions of adipokines and bone metabolism in patients with severe juvenile idiopathic arthritis

Markula-Patjas Kati , Ivaska Kaisa , Pekkinen Minna , Andersson Sture , Viljakainen Heli , Makitie Outi

Objectives: The skeleton and adipose tissue interact. Our aim was to evaluate the interactions between adipokines and bone metabolism, and their association with disease-related factors in patients with severe juvenile idiopathic arthritis (JIA).Methods: The study included 49 patients (median age 14.8 years, median disease duration 10.2 years) with refractory polyarticular JIA and 89 sex- and age-matched healthy controls. The subjects underwent clinical ...

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ba0002p47 | (1) | ICCBH2013

Vitamin D deficiency and structural and functional state of bone tissue in schoolchildren of Ukraine

Povoroznyuk Vladyslav , Tyazhka O , Balatska Nataliya , Budnik T , Kubey I , Haliyash N

Introduction: Vitamin D is an essential material in bone metabolism, and regulation of body minerals. Vitamin D deficiency has various causes, including limitations in sunlight exposure (type of clothing, sunscreen usage, indoor activity), seasonal geographic latitude and altitude, atmospheric pollution, diet, and ageing.The aim of the work was to determine the frequency of vitamin D deficiency among Ukrainian schoolchildren and its influence on bone min...

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ba0002p48 | (1) | ICCBH2013

Pubertal induction with testosterone of a boy with bilateral anorchia guided by the development of his monozygotic twin brother

Van Caenegem Eva , Vandewalle Sara , Taes Youri , Kaufman Jean-Marc , Craen Margarita , Guy T'Sjoen

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

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ba0002p49 | (1) | ICCBH2013

Some features of regulation of the bone tissue metabolisms at the newborns who have transferred infectious influence during intrauterine development

Manasova Gulsym , Povoroznyuk Vladyslav , Zelinsky Alexander

Perinatal infections appreciably defines the levels of the neonatal deseases and death rates. The systemic inflammatory response syndrome at the infections can promote the softening of the bones tissue in pregnant women and their fetuses.Objectives: Definition of the connection of the levels calcium-regulated hormones and bone tissue remodeling markers in blood at 32 (II) healthy and 48 (I) pregnant women with perinatal infections...

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ba0002p50 | (1) | ICCBH2013

Bioelectrical impedance as a screening tool for low bone mass in Indian children and adolescents

Ekbote Veena , Khadilkar Anuradha , Chiplonkar Shashi , Mughal M Zulf , Khadilkar Vaman

Objectives: i) To assess bone (BMC) by BIA in apparently healthy Indian children. ii) To generate percentile curves for BIA measured BMC by age/gender. iii) To investigate relationship between BMC measured by BIA and DXA in separate subset.Methods: In a multicentre study, 4154 children (2298 boys), 518 years underwent BMC assessment by BIA. BMC for age percentiles were computed using LMS method. In 41 children (not from the multicentre study) total...

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ba0002p51 | (1) | ICCBH2013

Mild visual impairment in a 13-year-old child with osteoporosis-pseudoglioma syndrome

Cheung Moira , Brain Caroline , Allgrove Jeremy

Background: Osteoporosis-pseudoglioma (OPPG) syndrome is an autosomal recessive disorder characterised by severe juvenile osteoporosis and congenital or infancy-onset visual loss. OPPG is caused by loss of function mutations in LDL receptor-related protein 5 (LRP5) gene. We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.Presenting problem/clinical management: This child presented with multiple low...

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ba0002p52 | (1) | ICCBH2013

Incidence of fractures in 2–18 years old affluent Indian children: a multicentre study

Ekbote Veena , Khadilkar Anuradha , Pillay Deepa , Chiplonkar Shashi , Mughal M Zulf , Khadilkar Vaman

Objective: Fractures represent a common injury during childhood and adolescence. Knowledge of epidemiology of fractures is crucially important for implementation of prevention strategies for target population. Our objective was to evaluate incidence of fractures in Indian children and adolescents and to investigate association of fractures with physical activity.Methods: Data on history of fracture, age, site of fracture and physical activity were collec...

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ba0002p53 | (1) | ICCBH2013

The influence of anthropometry and body composition on children’s bone health the Childhood Health, Activity and Motor Performance School (The CHAMPS) study, Denmark

Heidemann Malene , Holst Rene , Schou Anders , Klakk Heidi , Husby Steffen , Wedderkopp Niels , Molgaard Christian

Adiposity, physical inactivity and sedentary behavior have become an increasing problem during the past decade and raise concerns about future health. Increased sedentary behavior may change the body composition by increasing the fat mass (FM) relative to the lean mass (LM). These changes may influence bone health. This study aimed at evaluating the influence of BMI and body fat percent (BF%) and LM on childrens bone health represented by bone mineral content (BMC), bone...

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ba0002p54 | (1) | ICCBH2013

Association of calcium and dairy intake with growth in Indian children

Ekbote Veena , Khadilkar Anuradha , Chiplonkar Shashi , Mughal M Zulf , Khadilkar Vaman

Objective: Optimal intakes of calcium and milk are necessary in children and adolescents to facilitate not only mineralization but also growth in stature. Low intakes of calcium and also, of milk and milk products in Indian children have been reported. Hence, the objective was to study Indian childrens growth with respect to their calcium and dairy intakes.Methods: We studied 220 children (boys 104, age range 216 years). Data on their height,...

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ba0002p55 | (1) | ICCBH2013

Body composition, anthropometric parameters and bone densitometry in young Ukrainian male

Luzin V , Stklyanina L , Turenkov A , Ignatyev A , Nuzhna H

Objectives: To establish the correlations between the body composition, somatotypes and average bone mineral density (BMD) and bone mineral content (BMC) in young (1718 y.o.) male living in Donbass region (Ukraine).Materials and methods: Anthropometric and skinfold measurements were carried out. Estimations of the calcaneal BMD (g/cm2) and BMC, (r), estimated on ALOKA-5.0 DXA machine among 156 male were done. Total body fat perc...

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ba0002p56 | (1) | ICCBH2013

Effect of puberty on the muscle–bone relationships in Indian children and adolescents

Khadilkar Anuradha , Sanwalka Neha , Mughal M Zulf , Chiplonkar Shashi , Ekbote Veena , Khadilkar Vaman

Objective: To describe changes in the musclebone unit, assessed as the ratio of bone mineral content (BMC) to lean body mass (LBM) at skeletal sites during puberty in Indian males and females, after adjusting for age and fat.Methods: Data on arm, leg and total body (less head) BMC, LBM and fat mass (FM) assessed by DXA for 888 apparently healthy children and adolescents (426 females), 517 years of age from a cross-sectional study used to gene...

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ba0002p57 | (1) | ICCBH2013

Heterozygous mutation in GALNT3 in a case of hyperphosphataemic familial tumoral calcinosis

Knight Katie , Cheung Moira , Allgrove Jeremy

Background: Hyperphosphataemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive condition in which increased renal phosphate reabsorption is associated with elevated serum phosphate, inappropriately normal or raised PTH and extraosseous calcification. It is caused by mutations in genes related to phosphate metabolism: fibroblast growth factor 23 (FGF23), UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactos...

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ba0002p58 | (1) | ICCBH2013

Puberty is critical for the development of bone mineral density impairment in patients with congenital adrenal hyperplasia

Mora Stefano , Pitea Marco , Maruca Katia , Capelli Silvia , Russo Gianni

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition characterized by the inability of the adrenal gland to produce cortisol. The classical form is due to the deficit of 21-hydroxylase activity (21-OHD) and it accounts for 9095% of all CAH cases. Treatment of CAH patients consists of life-long glucocorticoid therapy, which must be dosed carefully to avoid excessive or insufficient adrenal suppression. There are data showing low bone mineral density (BMD) ...

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ba0002p59 | (1) | ICCBH2013

The rapid effect of vibration on bone formation and resorption in the growing skeleton

Harrison Rachel , Ward Kate , Lee Ellen , Bishop Nick

Background: Mechanical stimulation is thought to be critical for bone anabolic activity. It is unclear how quickly the growing skeleton responds to additional externally-applied mechanical stimuli. We wished to determine the acute effect of a standardised mechanical stimulus to the growing skeleton.Objectives: To determine the acute time course and magnitude of bones response to whole body vibration (WBV) in pre-pubertal boys.<p class="abstext"...

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ba0002p60 | (1) | ICCBH2013

Failure of free, public vitamin D supplementation program for Quebec infants: temporal trends and significant predictors

Millette Maude , Sharma Atul , Weiler Hope , Sheehy Odile , Berard Anick , Rodd Celia

Over 80% of Quebec woman initiate breastfeeding, and rates of exclusive breastfeeding at 6 months doubled from 2003 (9.7%) to 2009 (19.0%). To prevent deficiency, current recommendations for these infants include 400 IU/day of vitamin D. For 20 years, Quebec has offered a program of free vitamin D supplements through its public medication insurance plan (RAMQ).Objective: Program evaluation over the last decade.Methods: This is a re...

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ba0002p61 | (1) | ICCBH2013

Elevated FGF23 levels in premature infants without excessive phosphaturia

Fatani Tarah , Binjab Asma , Weiler Hope , Sharma Atul , Rodd Celia

Preterm infants develop reduced bone mass and fragility fractures. Nevertheless, normal ranges in preterm infants are poorly defined for concentrations of vitamin D; its isomers (C3α-epimer of 25(OH)D3) and metabolites (24, 25(OH)2D3, 1, 24(OH)2D); and other mineral-regulating hormones, including FGF23 in both intact (iFRG23) and inactive (C- terminal) forms.Objective: To clarify normal concentrations of minerals and hormones in healthy, preterm inf...

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ba0002p62 | (1) | ICCBH2013

The effect of the ketogenic diet on the developing skeleton

Simm Peter , Bicknell-Royle Jill , Nation Judy , Draffin Kellie , Stewart Karen , Cameron Fergus , Scheffer Ingrid , Mackay Mark

Objectives: The ketogenic diet (KD) is a medically supervised, high fat, low carbohydrate and restricted protein diet which has been used successfully in patients with refractory epilepsy. Only one published report has explored its effect on the skeleton. We postulated that KD impairs bone mass accrual and examined skeletal health parameters in this patient group.Methods: Patients commenced on the KD from 20022009 were enrolled in a prospective, lo...

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ba0002p63 | (1) | ICCBH2013

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

Parthasarathy Lavanya , Khadilkar Anuradha , Ekbote Veena , Chiplonkar Shashi , Mughal Zulf , Khadilkar Vaman

Objective: Type 1 diabetes mellitus (TIDM) has been shown to adversely affect bone health in children. Hence, objective was to assess bone health status of children with T1DM, and to assess relationship between bone status and disease duration.Methods: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA in 47 (25 boys) children with T1DM. Z-scores for TBBMC for bone area (TBBA), TBBA for height, lean body...

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ba0002p64 | (1) | ICCBH2013

The level of vitamin D and calcium in urban pregnant women in Russian Federation

Ershova Olga , Dzhalatova Valentina , Belova Ksenia , Svetalkina Ekaterina

Background: Optimal intake of calcium and vitamin D of pregnant women is an important component for the normal course of pregnancy, but here are the contradictory opinions about the case of shortage of the consumption, there is no uniform approach to the appointment of them.Aim: To assess the level of consumption of alimentary calcium, and characteristic of the status of vitamin D and calcium in blood serum of pregnant women.Materi...

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ba0002p65 | (1) | ICCBH2013

Improvement in morphological properties of trabecular bones and longitudinal growth in tibia for growing rats through an impact stimulation

Eom Sinae , Ko Chang-Yong , Park Ji Hyung , Seo Dong-Hyun , Jung Young Jin , Kim Han Sung

Mechanical stress and strain generated by physical exercises or the other passive stimulations are well known to have a positive effect on the growing musculoskeletal system. Especially, when the impact stimulation which evokes high magnitude of strain in a second is applied to bone, it improves bone qualities. Thus, to verify the effect of impact stimulation, we conducted longitudinal study on morphological properties of the tibia in growing rats. Free falls from designated h...

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ba0002p66 | (1) | ICCBH2013

Effect of resistance training on peripheral bone mineral density and muscle strength in adolescents with motor difficulties

Hands Beth , McIntyre Fleur , Bervenotti Francisco , Siafarikas Aris

Objectives: Adolescents with motor difficulties may have a higher fracture risk due to limited participation in high impact physical activities that improve bone mineral density (BMD). Equipment constrained resistance training (RT) interventions may be an effective way to improve both muscle strength and BMD in this population. The aims of this study were to investigate the effect of a GYM-based RT intervention on peripheral BMD, and to determine the extent of the relationship...

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ba0002p67 | (1) | ICCBH2013

Dual-energy X-ray absorptiometry in predicting clinical bone disease in adults with childhood onset end-stage renal disease

van Huis Maike , Vogelzang Judith , van der Lee Hanneke , Boot Annemieke , Groothoff Jaap

Objectives: Metabolic bone disease is a frequent complication of end-stage renal disease, characterised by a decreased bone mineral density, which can be measured with dual-energy X-ray absorptiometry. Its validity as a marker for clinical bone disease and increased fracture risk has never been established in adults with pediatric onset of end-stage renal disease (13). Adult survivors of pediatric end stage renal disease have very low bone mineral density and small statu...

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ba0002p68 | (1) | ICCBH2013

Engineered tridimensional hydroxyapatite scaffold to support bone resorption

Cappariello Alfredo , Mirabile Eleonora , Muraca Maurizio , Teti Anna

Objective: In many traumatic or pathological conditions, bone turnover is low and osteoclast activity is reduced or abolished. We developed innovative hydroxyapatite (HA) scaffolds carrying RANKL expressing cells with the aim of supporting bone resorption when this is defective. Membrane-bound (m)RANKL is cleaved into soluble (s)RANKL by MMP14. We hypothesized that the osteoclastogenic potential of RANKL-producing cells could be improved if they were seeded on scaffolds engine...

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ba0002p69 | (1) | ICCBH2013

sRANKL/OPG in children with idiopathic hypercalciuria

Pavlou Maria , Siomou Ekaterini , Cholevas Vasileios , Siamopoulou Antigone , Challa Anna

Objectives: To determine any relationship of serum concentrations of osteoprotegerin (OPG), sRANKL and sRANKL:OPG ratio with idiopathic hypercalciuria (IH) in children, as there is some evidence of increased bone resorption in these patients.Methods: In a prospective study, twenty four children of median age 6.5 years (range 2.316.4) with IH (five had urolithiasis and two nephrocalcinosis) were examined at the time of diagnosis and after 3 months o...

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ba0002p70 | (1) | ICCBH2013

Isolated bilateral zeugo-autopodal segments agenesis of the lower limb: unusual malformation case report

Christiaens Antoine , Deprez Pierre M L , Mendola Antonella , Bernard Pierre , Gillerot Yves , Clapuyt Philippe , Lengele Benoit G , Vikkula Miikka , Nyssen-Behets Catherine

: Congenital limb abnormalities represent a prevalence of 0.79/1000 of live births in Massachusetts1. A better understanding of their physiopathology could improve the management of the patients. We report on a 23 weeks female fetus affected by an isolated bilateral terminal transverse defect of the lower limbs with nubbins. Both familial history and chromosomal analyses were irrelevant. We performed a deep morphological examination of the fetus in comparison with a...

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ba0002p71 | (1) | ICCBH2013

The microarchitecture of bone in osteochondromas

Staal Heleen , van Rietbergen Bert , van Rhijn Lodewijk

Introduction: Hereditary multiple osteochondromas (HMO) is characterized by the outward growth of cartilage-capped bone tumors. Osteochondromas contain a bone marrow cavity continuous with the normal bone cavity. Because of their off-axis position, osteochondromas are expected to carry less load than normal bone tissue. According to Wolffs law, we therefore hypothesized that osteochondromas would have a less developed, osteoporotic-like microstructure. To test this hypot...

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ba0002p72 | (1) | ICCBH2013

Abstract withdrawn....

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ba0002p73 | (1) | ICCBH2013

Histomorphometric parameters of the alveolar ridges of the mandible in immature rats after thymectomy

Luzin V , Kochubey A , Morozov V

Aim: Study the features changes of histomorphometric parameters of alveolar ridges in immature rats after thymectomy.Methods: The study was conducted on 120 immature male rats were divided into two groups: 1st group sham-operated animals, 2nd group rats with removed of the thymus under mask ether anesthesia (thymectomy). Periods of observation were 7, 15, 30, 90 and 180 days. Rats were euthanized under mask ether anesthesia. For histologica...

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ba0002p74 | (1) | ICCBH2013

Assessment of bone mass and bone metabolism in children with chronic inflammatory bowel diseases

Kusec Vesna , Senecic-Cala Irena

Skeletal integrity during childhood may be compromised by diseases interfering with bone metabolism. Chronic inflammatory bowel diseases (CIBD; Crohns disease, ulcerative colitis) in children is a recognized risk of osteoporosis in adulthood. This study was aimed at assessment of bone mass and bone metabolism in children with CIBD at diagnosis and after 1 year during therapy. Patient population comprised 64 children (boys 23 and girls 42) and adolescents aged 14.6±2...

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ba0002p75 | (1) | ICCBH2013

Vitamin D receptor gene Fok1 polymorphism and bone mass accrual in Indian girls

Khadilkar Anuradha , Sanwalka Neha , Chiplonkar Shashi , Khatod Kavita , Phadke Nikhil , vaman Khadilkar , Ekbote Veena

Objective: To study association of VDR gene Fok1 polymorphism locus on bone mass accrual in adolescent girls.Methods: An intervention trial was carried out in 102 girls aged 816 years (Pune, India). All girls received 500 mg elemental calcium (daily) and 30 000 IU of vitamin D3 quarterly for 1 year. Outcome variables were measured at baseline and end of the year. Serum levels of ionised calcium (iCa), inorganic phosphorous, parathyroid hor...

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ba0002p76 | (1) | ICCBH2013

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

Dyck Maria Van , Herman Jean , Lombaerts Rita

: This study analyses the long-term effect of rhGH on final height (FH) and bone health in renal transplanted patients.Twenty-one young adult patients, aged 1726 years, were studied. Group A consisted of 15 patients (12 boys) who received rhGH during 3.0 years before transplantation. After transplantation three boys needed rhGH again for 3.5 years. In group B six patients (three boys) didnt need rhGH before transplantation, three girls receiv...

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ba0002p77 | (1) | ICCBH2013

A novel mutation in CRTAP gene in a patient with severe ostegenesis imperfecta type VII

Vuorimies Ilkka , Pekkinen Minna , Becker Jutta , Valta Helena , Netzer Christian , Makitie Outi

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

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ba0002p78 | (1) | ICCBH2013

Variable relationship of fat mass and bone with pubertal staging in obese and normal weight Indian children and adolescents

Khadilkar Anuradha , Ekbote Veena , Pandit Deepa , Chiplonkar Shashi , Mughal M Zulf , Khadilkar Vaman

Objective: In children, factors such as age and puberty are confounders when investigating associations of fat or lean with bone mineral content (BMC). Our aim was to assess influence of fat on BMC in overweight/obese (ow/ob) and normal weight (nw) children at different stages of puberty.Methods: Cross-sectionally, 244 children+adolescents (616 years) (73nw, 177ow/ob) were assessed (tanner staging (TS), body composition (DXA) (total body BMC, lean ...

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ba0002p79 | (1) | ICCBH2013

High sedentary lifestyle practices has adverse influence on musculoskeletal health in adolescent boys and girls: findings from a population-based study in Malaysia

Teo Pey Sze , Abdullah Nurul-Fadhilah , Chen Chee Keong , Aziz Mohd Ezane , Foo Leng Huat

The combined effect of lifestyle physical activity (PA) and sedentary behavioral practices on musculoskeletal health in growing populations is still poorly understood. Objectives: To investigate the combined influence of mechanical loading of weight-bearing PA (WBPA) and screen-based sedentary practice (SSR) on musculoskeletal profiles among 455 adolescents aged 1219 years.Methods: Validated PA and SSR behaviour assessments w...

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ba0002p80 | (1) | ICCBH2013

Osteogenesis imperfecta and short stature: effect of sclerostin antibody treatment in oim/oim mice

Cardinal Mickael , Nyssen-Behets Catherine , Ominsky Mike , Devogelaer Jean-Pierre , Manicourt Daniel H

Introduction: Osteogenesis imperfecta (OI) is characterized by low bone mass, skeletal fragility and, frequently, short stature. We previously showed in oim/oim mice that sclerostin inhibition increased bone mass, mineral content and strength. Here, we compared the body length and the sizes of long bones, head and vertebrae between oim/oim and wildtype mice and analyzed the effect of sclerostin antibody (Scl-Ab) on these parameters.Materials and methods:...

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ba0002p81 | (1) | ICCBH2013

Reference point indentation testing detects age-related changes in tissue mechanical properties in mice

Forbes Mhairi , Bishop Nick , Grabowski Peter

Objectives: The ability to discriminate bone fractures that result from non-accidental injuries and those that result from underlying bone fragility is limited by the lack of clinical instrumentation to directly measure bone mechanical properties. The BioDent Hfc (Active Life Scientific) is an experimental device that has been validated for measuring cortical bone fracture resistance in adults. We are currently developing protocols to test the feasibility of its use in infants...

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ba0002p82 | (1) | ICCBH2013

The influence of sclerostin serum levels on bone mineral density and body composition in patients with Rett syndrome and healthy adolescent girls

Caffarelli Carla , Tanzilli Loredana , Pitinca Maria Dea Tomai , Hayek Joseph , Francolini Valentina , Franci Beatrice , Nuti Ranuccio , Gonnelli Stefano

Objective: Sclerostin, product of the SOST gene, is an important determinant of bone formation and resorption. Rett patients, frequently present marked decreases in bone mineral density (BMD) beyond that expected from disuse atrophy. However, sclerostin has not been yet examined in Rett subjects as a potential mediator of impaired bone metabolism.Methods: This study aimed to investigate whether there is any associations between sclerostin levels, body co...

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ba0002p83 | (1) | ICCBH2013

Anti-RANKL nanobody ALX-0141 shows sustained biomarker inhibition in a phase I study in healthy postmenopausal women

Schoen Pieter , Jacobs Sandy , Verschueren Katrien , Ottevaere Ingrid , Sobry Sigrid , Holz Josefin-Beate

Objectives: The interaction between RANK and its ligand RANKL is critical for the regulation of osteoclastogenesis and bone resorption. Inhibition of this interaction helps restore the balance between bone resorption and bone formation. ALX-0141, a novel biological agent (Nanobody) that specifically targets RANKL, was studied in a phase I trial to assess the safety, tolerability, immunogenicity and PK after a single s.c. injection.Methods: Forty-two heal...

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ba0002p84 | (1) | ICCBH2013

Comparison of socioeconomic status on bone mass assessed by quantitative ultrasound of hand phalanges of boys from 7 to 15 years old

de Barros Ramalho Luiz Carlos , Samur-San Martin Juan Eduardo , Bertapelli Fabio , Goncalves Ezequiel Moreira , Barbeta Vinicius , Krahenbuhl Tathyane , Ribeiro Roberto Regis , Nolasco da Silva Marcos Tadeu , Guerra-Junior Gil

Several environmental and genetic factors are determinant, also including sex, hormonal, ethnics, nutritional and lifestyle, may interferer on bone mass of children. However, the pediatric studies that approach the socioeconomic status and the quantitative ultrasound parameters (QUS) are scarce. The aim of this study was to compare the socioeconomic status on bone mass assessed by QUS in boys from 7 to 15 years old. In this cross-sectional study, were evaluated 520 Brazilian b...

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ba0002p85 | (1) | ICCBH2013

Comparison of socioeconomic status on bone mass assessed by quantitative ultrasound of the phalanges in girls from 7 to 15 years old

Samur-San Martin Juan Eduardo , de Barros Ramalho Luiz Carlos , Goncalves Ezequiel Moreira , Bertapelli Fabio , Barbeta Vinicius , Krahenbuhl Tathyane , Ribeiro Roberto Regis , Mendes Roberto Teixeira , Guerra-Junior Gil

Several environmental and genetic factors may interfere on bone mass in children. However, the pediatric studies that approach the socioeconomic status and quantitative ultrasound (QUS) parameters are scarce. The aim of this study was to compare the bone mass in girls from 7 to 15 years old of different socioeconomic status. The sample consisted of 860 Brazilian girls (8.95±1.32) of different socioeconomic status. The bone mass parameter, amplitude dependent speed sound (...

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ba0002p86 | (1) | ICCBH2013

Assessing bone quality and fracture resistance in children using microindentation

Forestier-Zhang Lydia , Grabowski Peter , Gallagher Orla , Patel Ameeta , Madan Sanjeev , Arundel Paul , Bishop Nick

Background: At present, clinical assessment of bone strength in children predominantly relies bone mass measurement using absorptiometry (DXA) or QCT densitometric approaches. However, bone strength is not only dependent on mass/density, but also structural and material mechanical properties. Currently no technique measures bone mechanical properties. Recently, a new micro-indentation device, the reference point indentation (RPI) instrument has been validated for the measure o...

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ba0002p87 | (1) | ICCBH2013

Serum homocysteine levels in children and adolescents with impaired bone health

Kutilek Stepan , Skalova Sylva , Rehackova Petra

Background: Association between high serum homocysteine (S-Hcy) levels and low bone mineral density (BMD) and increased fracture risk in postmenopausal women has been repeatedly documented. There are scarce data concerning S-Hcy and bone health in children and adolescents.Patients and methods: We assessed S-Hcy levels in 37 children and adolescents (22 boys and 15 girls; mean age 13.9±3.5 years) with prevalent low-energy trauma fractures (mean 3.3&#...

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ba0002p88 | (1) | ICCBH2013

Children and adolescents with cystic fibrosis have normal volumetric BMD and geometry at the radius, but low muscle area at the forearm

Soucek Ondrej , Lebl Jan , Skalicka Veronika , Zemkova Dana , Sumnik Zdenek

Objectives: While studies in adults with cystic fibrosis (CF) showed increased fracture risk and decreased bone mineral density (BMD), the results of the pediatric studies have been contradictory. Our aims were to assess volumetric BMD, bone geometry and the musclebone relation at the forearm in children with CF using peripheral quantitative CT (pQCT), and to correlate these bone parameters to pulmonary function.Methods: Fifty-three patients with C...

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ba0002p89 | (1) | ICCBH2013

Painful vertebral fractures during pregnancy: be aware of a potentially underlying genetic cause

Zillikens M Carola , Campos-Obando Natalia , Oei Ling , Simon Marleen

Background: The baby growing in its mothers womb needs calcium for skeletal development. Maternal osteoporosis has been attributed to pregnancy in some cases.Presenting problem: A 27-year-old woman in the 7th month of her first pregnancy complained of mid-thoracic back pain after lifting a non-heavy object. The pain remained with differing intensity and was attributed to her pregnancy. After the delivery of a healthy child, the back pain prevented ...

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ba0002p90 | (1) | ICCBH2013

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia

Skalova Sylva , Kutilek Stepan , Cerna Lucie , Bayer Milan , Schlingmann Karl-Peter , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...

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ba0002p91 | (1) | ICCBH2013

Hypovitaminosis D in chronically ill children in Greece and its management

Tsiamasfirou Damiani , Tsakiropoulos Charalambos , Vassilakis Alexandros , Paspati Ioanna

Objectives: Study the prevalence of hypovitaminosis D in chronically ill children in Greece, as well the efficacy of a proposed replacement therapy.Methods: A total number of 213 children (121 males and 92 females), with mean age 10.1 years (118), suffering various pathological conditions (cerebral palsy, Duchenne myopathy, epilepsy), were sampled to measure serum 25(OH)D and parameters of bone turnover. 101 children were given replacement therapy ...

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ba0002p92 | (1) | ICCBH2013

Bone mineralization in children with chronic gastroduodenitis

Scheplyagina Larisa , Kruglova Irina , Kostik Mikhail

Children with chronic gastroduodenitis (CGD) have decreased absorption of nutrients, minerals particularly, which can influence on bone strength and linear growth.Objectives: We evaluated bone mineral density (BMD) in children with CGD and compared with healthy individuals.Methods: BMD was measured in 97 children aged 513 years by lumbar spine DXA (DPX MD+, Lunar) with pediatric reference database. BMD was evaluated according...

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ba0002p93 | (1) | ICCBH2013

Long term efficacy of low dose pamidronate treatment in osteogenesis imperfecta and its effects on growth

Goksen Damla , Ozdemir Ozgur , Ozen Samim , Darcan Sukran

Aim: To assess long term safety of low dose pamidronate therapy and the effects on pubertal growth spurt.Methods: A retrospective study was conducted in 36 girls and 21 boys whose mean age was 4.1±3.6 years at baseline. Intravenous pamidronate 34 mg/kg per year once daily therapy with 24 cycles/year for 0.515 years) was given with physical therapy and orthopedic surgery as appropriate. Mobility score, height, puberty and bone miner...

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ba0002p94 | (1) | ICCBH2013

Bone anomalies in Noonan syndrome

Bodescu Ioana , Rusu Cristina , Idriceanu Jeanina , Vasiliu Ioana , Vulpoi Carmen , Constantinescu Georgiana

Background: Noonan syndrome (NS) is a genetic multisystem disorder characterized by distinctive facial features, learning difficulties, short stature, and cardiac defects. Other important findings include skeletal anomalies, especially spinal and chest deformities. Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation and growth including bone homeostasis. We ...

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ba0002p95 | (1) | ICCBH2013

Abstract withdrawn....

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ba0002p96 | (1) | ICCBH2013

Cross-sectional associations of sex steroids with bone maturation, bone mineral density and bone geometry in boys

Vandewalle Sara , Taes Youri , Fiers Tom , Toye Kaatje , Roggen Inge , Kaufman Jean-Marc , De Schepper Jean

Background: Although both testosterone and estrogens are considered essential for normal bone growth, epiphyseal maturation and bone mass accrual during adolescence, only very few data concerning the changes of estrogens, bone maturation, bone mineral density (BMD) and bone geometry in healthy boys at different pubertal stages have been published.Objectives: This study aimed to analyze the relationship between sex steroids and more especially estrogens a...

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ba0002p97 | (1) | ICCBH2013

Vitamin D status and bone health in survivors of childhood lymphoblastic leukemia

Schundeln Michael M , Hauffa Pia K , Goretzki Sara C , Lahner Harald , Marschke Laura , Eggert Angelika , Hauffa Berthold P , Grasemann Corinna

Introduction: Lymphoblastic leukemia is the predominant form of childhood malignancies with survival rates of >80%. Late effects of cancer and treatment can affect endocrine function and may account for acute and chronic impairment of bone health.Aim and design: To assess bone health in pediatric patients after therapy for lymphoblastic leukemia we initiated a clinical trial investigating clinical and biochemical parameters of growth, puberty, bone t...

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ba0002p98 | (1) | ICCBH2013

Effects of denosumab on bone biochemistry and calcium metabolism in a girl with Juvenile Paget’s disease

Grasemann Corinna , Schundeln Michael , Wieland Regina , Bergmann Christoph , Wieczorek Dagmar , Zabel Bernhard , Schweiger Bernd , Hauffa Berthold P

Juvenile Pagets disease (JPD) is an extremely rare, yet painful and debilitating bone disease with onset occurring during early childhood. JPD can be caused by loss of function of osteoprotegerin, resulting in subsequent osteoclast stimulation via the activated receptor activator of nuclear factor-kappa B (RANK) pathway. Increased bone turnover and a lack of bone modelling lead to severe deformities, frequent fractures, short stature and loss of hearing.<p class="abs...

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ba0002p99 | (1) | ICCBH2013

Potential association between vitamin D deficiency and hypertension in adolescents: a Pilot study

Babinska-Malec Edyta , Konstantynowicz Jerzy , Abramowicz Pawel , Werpachowska Irena , Bazyluk-Muszynska Malgorzata , Piotrowska-Jastrzebska Janina

Objective: Insuficient vitamin D supply defined as serum hydroxyvitamin D (25OHD) <20 ng/ml is considered as one of possibile cardiovascular risk factors among adults with hypertension. Furthermore, some data also suggest an independent association between vitamin D deficits and hypertension and obesity during growth. The aim of the study was to assess vitamin D status in children and adolescents with hypertension.Methods: The cross sectional study w...

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ba0002p100 | (1) | ICCBH2013

Preliminary evidence of reduced volumetric trabecular bone mineral density in children with idiopathic hypercalciuria: a peripheral quantitative computed tomography study

Atsali Erato , Stathopoulos Konstantinos D , Bournazos Ilias , Nikolaidou Polyxeni , Papagelopoulos Panagiotis , Zoubos Aristides B , Skarantavos Grigoris

Objective: Idiopathic hypercalciuria (IH) is defined as excessive 24 h urinary calcium excretion (>4 mg/kg per 24 h), that persists after correction of dietary imbalances in the absence of secondary causes. Recent studies with DXA in children with IH provide evidence of decreased areal BMD. We used peripheral quantitative computed tomography (pQCT) of the tibia, to test the hypothesis that IH results in decreases of volumetric (mg/cm3) BMD of the trabecular and/...

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ba0002p101 | (1) | ICCBH2013

Rapid bone mass recovery after parathyroidectomy for primary hyperparathyroidism in a 15-year-old boy

Tau Cristina , Viterbo Gisela , Ayarzabal Victor , Felipe Laura , Belgorosky Alicia

Primary hyperparathyroidism is extremely rare in childhood and adolescence. Here we report a clinical case of a 15-year-3-month-old boy who began 2 years before with pain in his knees, genu varum, and fatigue. Physical examination showed severe genu valgum with an inter-malleolar distance of more than 30 cm. Biochemical tests showed hypercalcemia (12.2 mg/dl), hypophosphatemia (2.3 mg/ dl), hypercalciuria (6.4 mg/kg per day), high alkaline phosphatase (2812 IU/l), low 25-hydro...

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ba0002p102 | (1) | ICCBH2013

Influence of nutritional status in the bone mass assessed by quantitative ultrasonography of boys

de Oliveira Barbeta Vinicius Justino , Bertapelli Fabio , Goncalves Ezequiel Moreira , Krahenbuhl Tathyane , de Barros Ramalho Luiz Carlos , Martin Juan Eduardo Samur-San , Ribeiro Roberto Regis , Guerra-Junior Gil

The childhood is an important period for bone mass acquisition, and this tissue may be influenced by the nutritional status. However, the relation between the nutritional status and the bone parameters of quantitative ultrasound (QUS) remains unclear. The aim of this study was to verify the influence of nutritional status on bone mass assessed by QUS in male children from 7 to 10 years old. The sample consisted of 461 Brazilians pre-pubertal schoolchildren (8.30±1.13 year...

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ba0002p103 | (1) | ICCBH2013

Celiac disease and bone disorders: diagnosis age influence

Brunetto Oscar , Cau Ana Arias , Insua Claudia , Marzet Chriatian Boggio

Celiac disease (CD) is a frequent cause of malabsortion in childhood and affects calcium and vitamin D absorption.Aim: Analyze the vitamin D levels and bone mineral density (BMD) at diagnosis in patients affected with CD, and the influence of the age of diagnosis in the clinical presentation.Patient: 52 patients (female: 26) were evaluated.Results: The percentage with vitamin D deficiency (<20 ng/ml) was ...

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ba0002p104 | (1) | ICCBH2013

Immunohistochemical localization of bone morphogenetic proteins and their receptors in human osteochondromas

Cuellar Araceli , Inui Atsuyuki , James Michelle , Reddi A Hari

Objectives: To define the role of bone morphogenetic proteins (BMP) in human osteochondromas. The expression of bone morphogenetic proteins and their corresponding receptors has not been clarified in osteochondromas. We determined immunohistochemically the localization and distribution of bone morphogenetic proteins 2, 4, 6 and 7, bone morphogenetic protein receptor types 1A, 1B and 2 and the functional effectors phosphorylated Smad proteins 1, 5 and 8 in the cartilaginous cap...

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ba0002p105 | (1) | ICCBH2013

Bisphosphonate treatment in non-ambulatory patients with spastic quadriplegic cerebral palsy and other neuromuscular disorders: effectiveness of pamidronate vs zoledronic acid

Bowden Sasigarn , Jessup Ashley , Wang Wei , Mahan John

Objectives: To examine the bone mineral density (BMD) response to i.v. pamidronate (Group 1) vs i.v. zoledronic acid (Group 2) in non-ambulatory children and young adults with severe cerebral palsy or other neuromuscular disorders.Methods: A total of 50 non-ambulatory children and young adults, (mean age 11.3 years, range 2.132) with low BMD and/or history of fractures were retrospectively studied. Thirty-nine patients (30 spastic quadriplegic cere...

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ba0002p106 | (1) | ICCBH2013

Acquired hypophosphatemic rickets in a 13-year-old boy presenting with knee pain and valgus deformity

Bowden Sasigarn , Beebe Allan , Wildman Sally

Background: Hypophosphatemic rickets commonly presents in early childhood as inherited disorders. Acquired hypophosphatemic rickets or osteomalacia is a rare condition in children caused by paraneoplastic production of phosphaturic factor or FGF23 and is called tumor-induced rickets or osteomalacia. Localization of tumor is important as hypophosphatemic rickets completely resolves after resection of tumor.Presenting problem: We present a challenging case...

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ba0002p107 | (1) | ICCBH2013

Bone cross-sectional geometry and volumetric density at the distal radius in female adolescents with anorexia nervosa

Roggen Inge , Vanbesien Jesse , Gies Inge , Van den Eede Ursula , Lampo Annik , Louis Olivia , De Schepper Jean

Introduction: Osteopenia is a well-known complication of anorexia nervosa (AN) in older adolescents and adults, especially in those with a long duration of the disease and a severe underweight.Aim: We investigated whether young premenarchal girls with AN have similar risk factors for a disturbed bone growth and mineralization.Methods: Twenty-four female premenarchal AN patients as well as 24 age and height matched female controls u...

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ba0002p108 | (1) | ICCBH2013

Antenatal glucocorticoid injections do not aggravate stress-induced bone loss in young adult mice

Henneicke Holger , Gasparini Sylvia J , Brennan-Speranza Tara C , Zhou Hong , Seibel Markus J

Antenatal glucocorticoid (GC) injections are not only used to enhance fetal lung maturation in preterm children but also for the treatment of maternal conditions such as autoimmune diseases or infections. Animal models and clinical studies suggest that the regulation of the hypothalamicpituitaryadrenal axis is altered in the offspring of GC-treated mothers with increased sensitivity to stress.Objective: The aim of this study is i) to define t...

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ba0002p109 | (1) | ICCBH2013

Vertebral morphology assessment in children: can a modified algorithm-based qualitative technique be used reliably?

Adiotomre Ese , Summers Lucy , Broadley Penny , Lang Isla , Morrison Giles , Offiah Amaka

Purpose: There is no agreed standardised method for assessing vertebral morphology. The algorithm-based qualitative technique appears to be promising in adults to rule out non-osteoporotic fractures and non-fracture deformities, however it has not been previously trialled in children. We aim to modify a technique for use with both dual energy X-ray absorptiometry and radiographs in children, and to evaluate its reliability and reproducibility.Methods: 50...

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ba0002p110 | (1) | ICCBH2013

Replacing conventional spine radiographs with dual energy X-ray absorptiometry in children with suspected reduction in bone density

Adiotomre Ese , Summers Lucy , Broadley Penny , Lang Isla , Morrison Giles , Offiah Amaka

Purpose: Children have greater lifetime risks of radiation-induced complications compared to adults. In children with osteogenesis imperfecta conventional radiographs are obtained to assess spine morphometry, while DXA assesses bone density. In adults DXA is now used for both. We aim to establish whether iDXA can replace spine radiographs in the assessment of paediatric vertebral morphometry.Methods: An 18-month prospective recruitment of 200 consented c...

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ba0002p111 | (1) | ICCBH2013

Vitamin D status and association to bone health in 781 healthy 8–11 years old Danish school children: preliminary results from the Opus school meal study

Petersen R A , Damsgaard C T , Dalskov S , Sorensen L B , Laursen R P , Hjorth M F , Andersen R , Tetens I , Krarup H , Astrup A , Michaelsen K F , Molgaard C

Background: Low vitamin D concentrations among children and adolescents at northern latitudes are frequently observed. Also, inverse associations between 25-hydroxyvitamin D (25(OH)D) and PTH concentrations have been found in children of different ages. More studies on the link between vitamin D status and childhood bone health are needed.Objective: To evaluate the status of serum 25(OH)D in autumn and the association between 25(OH)D concentrations and b...

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ba0002p112 | (1) | ICCBH2013

Abstract withdrawn....

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ba0002p113 | (1) | ICCBH2013

Everyday chemicals modulate bone properties during development

Herlin Maria , Bjorkeson Ewa , Bowers Wayne J , Hakansson Helen

Objectives: In the modern society, all individuals are exposed throughout life to a variety of chemicals, which may contribute significantly to the human disease burden. Most of these chemicals are transferred to the fetus in-utero and to the infant via mothers milk. Until recently, few studies have addressed effects of chemicals on the development of mineralized tissues following exposure during these early stages of life. In this experimental study, we analyse...

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ba0002p114 | (1) | ICCBH2013

Association between parameters of bone mass measured by dual energy X-ray absorptiometry and quantitative ultrasound of proximal phalanges in children and adolescents with congenital adrenal hyperplasia

Goncalves Ezequiel M , Barbeta Vinicius J O , Bertapelli Fabio , Krahenbuhl Tathyane , Luiz Carlos B Ramalho , Martin Juan Eduardo Samur-San , Lemos-Marini Sofia H V , Guerra-Junior Gil

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

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ba0002p115 | (1) | ICCBH2013

Bone mineral density in late adolescence of transsexuals treated with GnRH-analogues in their teens

Klink Daniel , Caris Martine , van Trotsenburg Mick , Rotteveel Joost

Young transsexuals at a minimum age of 12 years are treated with GnRH-analogues (GnRHa) to suspend pubertal development until the addition of hormones of the desired sex is started at a minimum age of 16 years. The effect of this treatment on adult bone mineral density (BMD) is still unknown. We aimed to assess BMD at the age of 22, as this is near its peak in healthy individuals.In this prospective observational study 19 female to male (FtM) and 16 male...

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ba0002p116 | (1) | ICCBH2013

Vitamin D dependent rickets type 1: 2 years after discontinuation of treatment

Kougia Victoria , Seitanidou Stella , Kampouras Asterios , Talidis Filotas , Kollios Konstantinos , Roilides Emmanuel

Backround: Vitamin D dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1a hydroxylase enzyme deficiency, that leads to low or undetectable levels of 1,25 dihydroxyvitamin D despite normal levels of 25-hydroxyvitamin D levels. Additional laboratory findings include hypocalcemia and increased levels of parathyroid hormone. Clinically, it presents as early onset rickets and severe hypotonia.Presenting problem: A 6-year-old Cauca...

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ba0002p117 | (1) | ICCBH2013

Impact of age and pubertal development on bone mass assessed by quantitative ultrasound of the proximal phalanges in boys and girls aged 10–14 years

Krahenbuhl Tathyane , Goncalves Ezequiel Moreira , Barbeta Vinicius , Ramalho Luiz Carlos , Martin Juan Samur-San , Bertapelli Fabio , Ribeiro Roberto Regis , Barros-Filho Antonio Azevedo , Guerra-Junior Gil

The quantitative ultrasound (QUS) of the proximal phalanges has been used for the indirect evaluation of bone status. Furthermore, the relative simplicity and non-exposure to radiation, presents advantages for the use of QUS compared to other methods in children and adolescents. The aim of this study was to determine the influence of age and pubertal development on Amplitude Dependent Speed Sound (AD-SoS) assessed by QUS of proximal phalanges in girls and boys aged 1015 ...

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ba0002p118 | (1) | ICCBH2013

Variation in response to vitamin D therapy in a series of consecutive children referred to a paediatric bone disease service

Arshad Fawaz , Hinton Sally , Bishop Nick , Arundel Paul

Objectives: Guidelines for treatment of vitamin D deficiency (VDD) vary. We aimed to review the range of treatment regimens for VDD used locally and variation in responses.Methods: We conducted a retrospective review of the records of consecutive patients referred to a Childrens Bone Disease Service with a putative diagnosis of VDD over a 14-month period. Data collected includes vitamin D type used, dose and duration of treatment, and pre- and post...

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ba0002p119 | (1) | ICCBH2013

Depressive symptoms and bone mineral density in a cohort of portuguese adolescents: no association

Monjardino Teresa , Lourenco Sara , Lucas Raquel , Ramos Elisabete , Barros Henrique

Objective: Since depressive symptoms, which have been related to low bone quality in adulthood, may also be associated with suboptimal bone mineral accrual, we aim at quantify the association between depressive symptoms and bone mineral density (BMD) throughout adolescence.Methods: We analysed prospective data from 969 adolescents (56.2% girls) from a population-based cohort of urban adolescents, born in 1990, evaluated during the 2003/2004 and 2007/2008...

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ba0002p120 | (1) | ICCBH2013

Osteoblasts communicate with their neighbouring cells via extracellular vesicles

Morhayim Jess , Demmers Jeroen , de Jong Ton , Braakman Eric , de Peppel Jeroen van , Cornelissen Jan , van Leeuwen Hans

Objectives: Strong coordination between osteoblasts and bone marrow cells is fundamental for the regulation of healthy bone turnover and other (patho)physiological processes. Extracellular vesicles (EVs) mediate communication between cells via horizontal transfer of proteins and nucleic acids. Osteoblasts secrete EVs in the form of matrix vesicles involved in bone mineralization, however, information about a role in intercellular communication is still lacking. In this study, ...

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ba0002p121 | (1) | ICCBH2013

Tibial metaphyseal shape varies between children according to history of fracture

Arundel Paul , Hangartner Thomas , Short David , Holden Ben , Bishop Nick

Background: Measurement and interpretation of metaphyseal shape in children is difficult. We aim to develop relevant assessment methods using commonly available spiral computed tomography (CT) scanning.Methods: We analysed 12 pairs of age and pubertal stage matched subjects from a larger group of children recruited into a non-interventional casecontrol study in which all had suffered trauma; half had sustained a fracture. Each subject underwent ant...

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ba0002p122 | (1) | ICCBH2013

Fasting total ghrelin levels are increased in patients with adolescent idiopathic scoliosis

Gennero Isabelle , Conte-Auriol Francoise , Mus Marianne , Molinas-Cazals Catherine , Accadbled Franck , Tauber Maithe , De Gauzy Jerome Sales , Salles Jean Pierre

Objectives: Ghrelin is an orexigenic hormone produced by the stomach that reflects body weight changes and stimulates GH secretion. Recently, it has been shown to be associated with bone metabolism and eating behaviour. The underlying pathophysiology of adolescent idiopathic scoliosis (AIS) refers to possible abnormal bone development. AIS patients also frequently present with low BMI level.Eating behavioural disorders, endocrine disorders, abnormal grow...

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ba0002p123 | (1) | ICCBH2013

Inadequately treated hypophosphataemic rickets in 14-year-old boy: a case report

Athanasakos Athanasios , Bizimi Vasiliki , Atsali Eri , Skaradavos Gregory , Sideri Natali , Oikonomoulas Georgios , Alexopoulou Efthymia , Papakonstantinou Olympia

: Inadequately treated hypophosphataemic rickets (HR) in 14-year-old boy: a case reportBackground: HR is a rare cause of short stature associated with limb deformities.Objective: To report the clinical, laboratory and radiologic features of HR in a 14-year-old boy.Presenting problem: We present the case of the 14-year-old boy, with short stature and deformities of extremities, who complained for limb pain and...

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ba0002p124 | (1) | ICCBH2013

Adipokines and bone turnover throughout adolescence: an exploratory approach in a cohort of girls

Monjardino Teresa , Ramos Elisabete , Lucas Raquel , Prata Margarida , Severo Milton , Rodrigues Ana , Canhao Helena , Fonseca Joao Eurico , Barros Henrique

Objectives: By prospectively evaluating a cohort of girls we aim to identify population patterns linking adipokines and bone turnover during early and late adolescence and to assess the associations of those patterns with forearm bone mineral density (BMD).Methods: The study was developed within a population-based cohort of urban adolescents born in 1990 and assembled in public and private schools of Porto, Portugal (EPITeen). We analysed prospective dat...

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ba0002p125 | (1) | ICCBH2013

Growth plate modifications in lysophosphatidic acid LPA1 receptor-invalidated mice

Gennero Isabelle , Laurencin-Dalicieux Sara , Conte-Auriol Francoise , Briand-Mesange Fabienne , Chun Jerold , Salles Jean-Pierre

Objectives: Lysophosphatidic acid (LPA) is a potent lipid growth factor which possess several G protein-coupled receptors LPA1-6. We have recently demonstrated that LPA1 receptor-invalidated mice display abnormal bone development and osteoporosis, suggesting abnormal endochondral ossification. We have here further studied the growth plates of LPA1 receptor-invalidated mice.Methods: We performed a microscopic and immuno-histochemistry analysis of the femo...

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ba0002p126 | (1) | ICCBH2013

The role of severity of GH deficiency on clinical and instrumental features and response to treatment in children

Solntsava Anzhalika , Zagrebaeva Olga , Mikhno Hanna

Aim: To determine the response to treatment, clinical and instrumental features in children with partial GH deficiency (pGHD) and severe GHD (sGHD).Methods: We examined retrospectively 30 children with isolated GHD (stage on Tanner 1) in the Endocrinological department of University hospital (Minsk) over 20042012 years. Group 1 (G1) children with pGHD (n=5) mean±S.D., age 6.3±1.4 years; group 2 (G2) s...

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ba0002p127 | (1) | ICCBH2013

Mechanosensitive TRP channels are essential for Ca²⁺ signaling in osteoclastogenesis

Yang Yu-Mi , Shin Dong Min

Objectives: Bone remodeling and maintenance require a fine balance between bone formation of osteoblasts and resorption of osteoclasts. Therefore, various skeletal disorders cause by imbalanced differentiation and activities of these cells. Receptor activator of NF-κB ligand (RANKL) induces Ca2+ oscillations and activates nuclear factor of activated T cells 1 (NFATc1) during osteoclast differentiation. Although Ca2+ oscillations play a key role for o...

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ba0002p128 | (1) | ICCBH2013

Bone mineral density in survivors of childhood lymphoma

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

Objective: Assessment of bone mineral density in children completing therapy for lymphoma.Methods: Thirty-five children treated for childhood Hodgkin and non-Hodgkin lymphoma at the Department of Pediatric Hematology and Oncology of Medical University of Bialystok in Poland were included. Patients were scanned with DXA at two time points: 1st up to 5 years and 2nd above 5 years after the completion of the treatment. Bone mineral density (to...

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ba0002p129 | (1) | ICCBH2013

Radiographic evidence of rapid healing of vitamin D deficient rickets after 2 weeks of therapy

Stephens Kathryn , Bowden Sasigarn

Background: Following supplementation with adequate vitamin D and calcium, healing of vitamin D deficient rickets has generally been demonstrated on radiographic films 36 months following the initiation of therapy. However, we report a case that demonstrates radiographic evidence of rapid healing of vitamin D deficient rickets in only 2 weeks after starting therapy.Presenting problem: An 8-month-old African American male presented to the emergency ...

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ba0002p130 | (1) | ICCBH2013

‘Bone in bone' sign in juvenile osteoporosis in a 13-year-old girl

Sakalidou Maria , Atsali Eri , Bizimi Vasiliki , Skaradavos Gregory , Balanika Alexia , Athanasakos Athanasios , Alexopoulou Efthymia , Papakonstantinou Olymbia

Background: We present an interesting case of a young child under bisphosphonates, for the treatment of juvenile osteoporosis (IJO), that developed a bone in bone sign, in several vertebral bodies, evident both on radiographs (CRX) and on magnetic resonance (MR) studies.Presenting problem: A 13-year-old girl was admitted in our hospital complaining with thoracolumbar pain. The patient had been diagnosed with IJO 2 years ago because of.a histo...

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ba0002p131 | (1) | ICCBH2013

Ghrelin differentiates human osteoblasts via GHS-R1a receptor

Gennero Isabelle , Barre Ronan , Conte-Auriol Francoise , Beton Nicolas , Salles Jean Pierre

Objectives: Ghrelin is a peptide hormone secreted in the stomach, which stimulates GH release and food intake. It is also known to have an effect on bone metabolism. The ghrelin specific receptor, GHS-R1a, belongs to the G protein-coupled receptors (GPCRs). Its downstream pathway in osteoblasts remains unclear. We attempted to clarify the way by which ghrelin acts on osteoblast differentiation.Methods: We studied two human osteosarcoma cell lines, MG63 a...

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ba0002p132 | (1) | ICCBH2013

Studies on bone and osteoclasts in patients with Shwachman Diamond syndrome

Helfrich Miep , Mellis David , Coxon Fraser , Greenhorn John , Kuijpers Taco , Crockett Julie

Shwachman Diamond syndrome (SDS; MIM 260400) is a monogenic, autosomal recessive, pancreatic condition often accompanied by low bone mass and fracture. In SDS, as in cystic fibrosis, a low bone mass may be secondary to poor nutrition or chronic low-grade infection, but it has also been suggested there may be a primary bone phenotype. Paradoxically, recent studies in cell lines and in a mouse knockout for the SBDS gene, have suggested changes in important osteoclast gr...

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ba0002p133 | (1) | ICCBH2013

Linear growth over 2 years of velaglucerase alfa therapy in children with type 1 Gaucher disease previously treated with imiglucerase

Zimran Ari , Hughes Derralynn , Elstein Deborah , Smith Laurie , Harmatz Paul , Rhead William , Giraldo Pilar , Mendelsohn Nancy , Park Chan-Hoo , Zahrieh David , Crombez Eric

Objectives: As children with confirmed type 1 Gaucher disease (inherited metabolic disorder) may have linear growth retardation, we evaluated linear growth over 2 years in children enrolled in the interventional study TKT034, in which patients receiving imiglucerase enzyme replacement therapy were switched to velaglucerase alfa.Methods: Trial TKT034 enrolled patients who were ≥2 years of age with type 1 Gaucher disease and stable clinical parameter...

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ba0002p134 | (1) | ICCBH2013

Cessation of ambulation results in a dramatic loss of trabecular bone density in boys with Duchenne muscular dystrophy

Crabtree Nicola , Bebbington Natalie , Roper Helen , McMurchie Heather , Shaw Nicholas

Steroids are currently used to improve muscle strength and prolong ambulation in boys with Duchenne muscular dystrophy (DMD) although the effect on bone health is still unclear. The aim of this study was to compare bone strength in healthy children and boys with DMD and investigate the interaction between diminished muscle function, loss of ambulation and high dose oral steroids.Fifty children were studied, 14 healthy boys (HB), 13 boys with DMD who rema...

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ba0002p135 | (1) | ICCBH2013

Is vertebral fracture assessment by DXA more useful in a high fracture risk paediatric population than in a low-risk screening population?

Crabtree Nicola , Chapman Steve , Hogler Wolfgang , Shaw Nicholas

Vertebral fracture assessment (VFA) by DXA is an accepted tool in adults. However, its use in children has not been validated. The aim of this study was to validate VFA using iDXA against spinal radiographic assessment (RA) for the identification of vertebral fractures in children.Spine radiographs and VFA (L5T2) by GE-iDXA were acquired on the same day in 80 children. Forty children were considered high-risk for fracture as their metabolic bone sp...

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ba0002p136 | (1) | ICCBH2013

Time to low bone mass occurrence in children diagnosed with acute lymphoblastic leukemia

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

Objective: Assessment of low bone mass in children with acute lymphoblastic leukemia.Methods: A total of 141 patients (83 boys and 57 girls) treated for acute lymphoblastic leukemia at the Department of Pediatric Hematology and Oncology of Medical University of Bialystok in Poland were assessed for low bone mineral density. Depending on age of diagnosis three clinical groups were analyzed: i) up to 5 years old, ii) from 6 to 12 years old, and iii) from 1...

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ba0002p137 | (1) | ICCBH2013

Influence of nutritional status in the bone mass assessed by phalangeal quantitative ultrasound of girls aged 7–10 years old

Bertapelli Fabio , Goncalves Ezequiel M , Barbeta Vinicius J O , Krahenbuhl Tathyane , Ramalho Luis C B , Martin Juan E Samur-San , Ribeiro Roberto R , Guerra-Junior Gil

The childhood obesity is a global epidemic. Some studies with pre-pubertal children reported a positive relationship between fat mass and bone. However, there are no available data on the influence of the nutritional status on parameters of quantitative ultrasound (QUS). The aim of this study was to evaluate the influence of nutritional status in bone mass assessed by QUS of proximal phalanges in girls. The bone mass parameter, amplitude dependent speed sound (AD-SoS) in meter...

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ba0002p138 | (1) | ICCBH2013

Rare mutations associated with osteoclast-poor osteopetrosis provide molecular insights into receptor activator of NFκβ signalling

Crockett Julie , Das Subhajit , Dignan Cahal , Mellis David , Duthie Angela , Sobacchi Cristina , Schulz Ansgar , Helfrich Miep

Twelve different mutations in TNFRSF11A (encoding the RANK receptor) have been associated with osteoclast-poor autosomal recessive osteopetrosis in patients. Two truncated RANK proteins resulting from substitution mutations (W434X and G280X), identified in two infants, cause loss of the intracellular oligomerisation motif and in the case of the G280X mutation the TRAF6 binding domain. A third mutation was identified in a 10-year-old patient and is a frameshift mutatio...

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ba0002p139 | (1) | ICCBH2013

How to cope with a case of heterotopic ossifications

Morandi Grazia , Maines Evelina , Piona Claudia , Pepaj Orsiol , Monti Elena , Antoniazzi Franco

Introduction: Heterotopic ossification (OH) is a rare condition characterized by the presence of extra-skeletal ossification; in most cases OH is due to the inactivation of the gene of guanine nucleotide-binding protein alpha-stimulating activity polypeptide (GNAS). In some cases they remain confined to skin and subcutaneus tissues (osteoma cutis, Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism type 1a and c (PHP1a/c), and pseudopseudohypothyroidism (PPHP)),...

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ba0002p140 | (1) | ICCBH2013

Defects of SERPINF1 cause progressively deforming recessive osteogenesis imperfecta with normal collagen I

Venturi Giacomo , Gandini Alberto , Monti Elena , Corradi Massimiliano , Vincenzi Monica , Piona Claudia , Maines Evelina , Morandi Grazia , Pepaj Orsiol , Antoniazzi Franco

Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been fou...

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ba0002p141 | (1) | ICCBH2013

Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

Venturi Giacomo , Gandini Alberto , Monti Elena , Corradi Massimiliano , Vincenzi Monica , Piona Claudia , Morandi Grazia , Pepaj Orsiol , Antoniazzi Franco

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopaenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP1...

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ba0002p142 | (1) | ICCBH2013

A case of geleophysic dysplasia

Piona Claudia , Morandi Grazia , Maines Evelina , Monti Elena , Rodella Giulia , Pepaj Orsiol , Antoniazzi Franco

Background: Geleophysic dysplasia is a rare genetic bone disorder characterized by severe short stature, short hands and feet, characteristic facial features, limited joint mobility, thick skin, progressive cardiac valvular disorders and sometimes upper respiratory stenosis. Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.Case report: One-month-old male baby was initi...

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ba0002p143 | (1) | ICCBH2013

Fractures in juvenile idiopathic arthritis children: role of disease activity and genetic factors

Mikhail Mikhail , Demin Grigoriy , Smirnov Arseniy , Klyushina Alexandra , Scheplyagina Larisa , Larionova Valentina

Objectives: We evaluated role of disease activity and genetic factors in fractures predisposing among juvenile idiopathic arthritis (JIA) children.Methods: Bone mineralization parameters were detected by dual-energy X-ray absorptiometry of lumbar spine L1L4 in 197 (81 boys and 116 girls) JIA children. Bone biochemical markers included osteocalcin, C-terminal telopeptides, parathyroid hormone (PTH), Ca, Ca++, P, tota...

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ba0002p144 | (1) | ICCBH2013

Long-term bone sequelae following severe meningococcal septicaemia

Sukthankar Shaila , Kaleem Musa , Mughal Zulf

Background: Meningococcal septicaemia in childhood has a high mortality rate in the acute stage, often requiring intensive care support. Survivors are well known to have long-term sequelae in the form of neuropathy, renal scarring, loss of limbs and necrotic tissue damage. We describe here a case where a survivor of this disease developed growth plate arrest and consequent severe bowing of both tibias which now require surgical correction. Relevant literature is also reviewed....

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ba0002p145 | (1) | ICCBH2013

The recurrent IFITM5 c.−14C>T transition which causes osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide: a novel mutational hot-spot?

Monti Elena , Mottes Margherita , Venturi Giacomo , Corradi Massimiliano , Gandini Alberto , Maines Evelina , Morandi Grazia , Piona Claudia , Antoniazzi Franco

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types IV) with autosomal dominant inheritance and seven rarer forms (OI types VIXII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

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ba0002p146 | (1) | ICCBH2013

A case of familial cherubism

Maines Evelina , Morandi Grazia , Piona Claudia , Monti Elena , Doro Francesco , Gaudino Rossella , Antoniazzi Franco

Background: Cherubism is a rare autosomal dominant bone disease characterized by bilateral painless enlargement of the jaws, that typically first appear at the age of 27 years. In this condition the affected bone is replaced with fibrous tissue, giving the patient a cherubic appearance.Until now only 300 cases have been reported in the literature.Case report: A caucasian 4-year-old male child came to our Pediatric Clinic comp...

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ba0002p147 | (1) | ICCBH2013

A case of Gorham-Stout syndrome with chylothorax

Piona Claudia , Morandi Grazia , Maines Evelina , Monti Elena , Pepaj Orsiol , Antoniazzi Franco

Background: Gorham Stout syndrome, also called disseminated lymphangiomatosis, is a rare disease of unknown etiology and pathogenesis. This syndrome is characterized by an abnormal proliferation of thin walled capillaries and small lymphatic vessels that results in the massive osteolysis of adjacent bone. Surrounding soft tissues such as muscle, connective tissue, and viscera may also be affected. Chylothorax occurs secondary to direct involvement of the pleural cavity or the ...

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ba0002p148 | (1) | ICCBH2013

Low bone mineral density in a group of girls with Rett syndrome

Bachrach Steven , Kecskemethy Heidi , Harcke H Theodore , Schanen Carolyn

Objective: In girls with Rett syndromeDescribe bone mineral density (BMD) and contributing factors in a cross-section of subjects.Examine serial DXA measures.Examine effect of pamidronate on BMD over time.Methods: We reviewed the clinical course, medications, level of ambulation, 25-OH-Vit D levels, fracture history and DXA results in 13 girls with Rett syndrome. Eight subjects had more...

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ba0002p149 | (1) | ICCBH2013

Bone mineral content in healthy danish children assessed by DXA-scanning and by computerised determination from hand radiographs

Schou Anders , Heidemann Malene , Poulsen Mette Ramsdal , Molgaard Christian

Background: The mineral content of the skeleton in children may be estimated by a number of methods including DXA-scanning, ultrasound, pQCT-scanning and from plain radiographs. Recently, a new method offering an estimating of the bone mineral content in children based on computerised assessment from hand radiographs has been introduced. The new measure is named bone health index (BHI) and expresses the mineral content in the metacarpal bones divided by the volume of the same ...

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ba0002p150 | (1) | ICCBH2013

Markers of bone turnover in obese children: relationship to the nutritional status and oxidative stress level

Matusik Pawel , Olszanecka-Glinianowicz Magdalena , Chudek Jerzy , Malecka-Tendera Ewa

Background: Recent data showed that some bone related markers (osteocalcin, 25OHD3) correlate with BMI in the pediatric population. From the other side, obesity in childhood can increase the risk of cardiovascular morbidity and mortality in adulthood. Increased oxidative stress can be one from the causative mechanisms involved in the pathophysiology of almost every complication in obesity. The aim of this study was to determine the relationship between bone turnover markers, n...

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ba0002p151 | (1) | ICCBH2013

Severity of spine deformity in children and adolescents with idiopathic scoliosis is associated with nutritional status and body composition

Matusik Edyta , Durmala Jacek , Matusik Pawel , Wadolowski Karol

Background: Body composition changes during the developmental period and differs in children with idiopathic scoliosis (IS). No large-scale study has been performed to reveal the link between scoliotic deformity and body composition assessed by bioimpedance method (BIA). The study objective was to correlate the extent of scoliotic-curve severity with nutritional status of patients with IS based on standard anthropometrical analysis and BIA.Material and m...

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ba0002p152 | (1) | ICCBH2013

Zinc supplementation improves bone density in young adults with thalassemia

Fung Ellen B , Kwiatkowski Janet L , Huang James N , Gildengorin Ginny , King Janet C , Queisser Anne C , Vichinsky Elliott P

Poor bone mineralization remains a major health problem in patients with Thal and has been linked to functional zinc deficiency despite adequate dietary intake. The global etiology of poor bone mineralization includes inadequate dietary intake of calcium and vitamin D, endocrinopathies leading to disturbed calcium homeostasis, dysregulation of the GHIGF1 axis, and delayed puberty, all resulting in limited growth, decreased bone formation and increased bone resorption. Th...

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ba0002p153 | (1) | ICCBH2013

Low urinary citrate: a risk factor for fragility fractures in children and adolescents

Konstantynowicz Jarzy , Porowski Tadeusz , Abramowicz Pawel , Bialokoz-Kalinowska Irena , Piotrowska-Jastrzebska Janina

Objectives: Idiopathic hypercalciuria may infer not only an increased risk of nephrolithiasis but may also be associated with reduced bone mineral density (BMD) in adults. However, little is known about relationships between hypercalciuria, oxaluria, urolithiasis, citraturia and fracture risk in children. The aim of this cross-sectional study was to evaluate associations between hypercalciuria, urinary oxalate and citrate, BMD and fractures in hypercalciuric children.<p cl...

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ba0002p154 | (1) | ICCBH2013

Smad4 regulates growth plate chondrocyte proliferation, columnar organization and proteoglycan synthesis

Whitaker Amanda , Berthet Ellora , Cantu Andrea , Laird Diana , Alliston Tamara

Objective: The physis, or growth plate, is comprised of precisely organized chondrocytes that confer longitudinal growth of the bone. Multiple signaling pathways cooperate to regulate growth through their control of chondrocyte shape, polarity, proliferation, and differentiation.1,2 Disruption of these cellular events result in physeal defects, skeletal deformities, and abnormal limb growth. Loss of function mutations in Smad4, a common intracellular effector of all...

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ba0002p155 | (1) | ICCBH2013

Assessment of bone density in MPS IV (Morquio disease)

Kecskemethy Heidi , Harcke H Theodore , Ruhnke Kristen , Tomatsu Shunji

Objectives: i) Describe bone mineral density (BMD) of children with MPS IV (Morquio disease), a rare genetic disorder which produces skeletal deformity, small stature and results in physical limitations such as the ability to walk.ii) Examine fracture history and factors affecting bone health in Morquio.iii) Describe technical issues encountered in assessing BMD by DXA in Morquio.Methods: In this prospective ...

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ba0002p156 | (1) | ICCBH2013

Reflection analysis of infant scans results may improve infant DXA bone density and body composition result that contain motion

Shepherd John , Fan Bo , Powers Cassidy , Stranix-Chibanda Lynda , Fowler Mary , DiMeglio Linda , George Kathy , Siberry George

Objectives: Special dual-energy X-ray absorptiometry (DXA) protocols permit quantification of bone mineralization, fat mass, and fat distribution in infants. Our objective was to evaluate the accuracy and precision of a multiscan acquisition protocol designed to allow for reflection and imputation analysis for regions with movement.Methods: The IMPAACT P1084s Study assesses bone and kidney safety of antiretrovirals used for PMTCT. Newborns received a spi...

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ba0002p157 | (1) | ICCBH2013

Growth and bone health after hematopoietic stem cell transplantation or tyrosine kinase inhibitors in children with chronic myeloid leukemia: a single institution experience

Dilley Kimberley , Broglie Larisa , Chaudhury Sonali , Hijiya Nobuko

Objective: To examine the impact on growth and bone mineral density (BMD) of tyrosine kinase inhibitors (TKI) vs hematopoeitic cell transplant (HCT) for treatment of chronic myelogenous leukemia (CML) in patients <18 years of age.Methods: We performed a retrospective review of children with CML in chronic phase treated between 1992 and 2011 at a single institution and evaluated available growth and BMD data.Results: Twenty-five...

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ba0002p158 | (1) | ICCBH2013

Exploring vertebral abnormalities in patients with thalassemia and sickle cell disease

Fung Ellen , Reget Katie , Sawyer Aenor , Haines Drucilla , Lal Ashutosh

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

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ba0002p159 | (1) | ICCBH2013

Novel SLC34A3 mutation causing mild hypophosphataemia, hypercalciuria and nephrolithiasis but no clinical or radiological evidence of rickets

Steele Caroline , Bradbury Mark , Mughal M Zulf

Background: Genetic disorders of mineral metabolism causing nephrolithiasis and bone abnormalities are uncommon and have a varied clinical spectrum. Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically presenting with severe rickets and hypophosphataemia. Milder forms can present with hypercalciuria and nephrolithiasis without bone disease. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes t...

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ba0002p160 | (1) | ICCBH2013

A familial case of osteogenesis imperfecta: study of genotype–phenotype correlation

Ponti Emanuela , Mihalich Alessandra , Broggi Francesca , Di Blasio Anna Maria , Bianchi Maria Luisa

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotypephenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

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ba0002p161 | (1) | ICCBH2013

Autoimmune hepatitis and bone density in children

Vai Silvia , Nebbia Gabriella , Bianchi Maria Luisa

Autoimmune hepatitis (AIH) is an immune-mediated chronic inflammatory disease of the liver of unknown origin, that suddenly appears in previously healthy, normally growing children. Standard therapy is long-term prednisone, aimed at avoiding progression to cirrhosis. Considering the inflammatory origin of the disease and the long-term steroid therapy, negative consequences for bone health can be expected, but no data on this complication have been published until now.<p cl...

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ba0002p162 | (1) | ICCBH2013

Low bone mass and fractures in young patients with chronic diseases

Bianchi Maria Luisa , Vai Silvia , Colombo Carla , Corona Fabrizia , Ghio Luciana , Morandi Lucia , Nebbia Gabriella

We performed a prospective study on 440 young patients (aged 320 years), affected by various chronic diseases (cystic fibrosis; juvenile idiopathic arthritis; nephrotic syndrome; systemic lupus erythematosus; Duchenne muscular dystrophy; autoimmune hepatitis; transplants; etc.), with periodical bone mineral density (BMD) evaluations with DXA, for 314 years (7.8±6.2).266 patients were on long-term treatment with glucocorticoids (GCs); amo...

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ba0002p163 | (1) | ICCBH2013

Phenotype–genotype correlation and role of ancillary investigations in atypical and rare forms of osteogenesis imperfecta

Balasubramanian Meena , Parker Michael , Bishop Nicholas J

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

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ba0002p164 | (1) | ICCBH2013

Vitamin D deficiency in Moscow children and adolescents

Shilin Dmitry , Osipova Tatyana , Kostina Lidia

Objectives: To determine the prevalence and intensity of D-deficiency in children and adolescents in the metropolitan area with subtotal deficiency of ultraviolet B (55° N).Methods: From May 2008 to May 2010 in a random sample of 163 Muscovites 018 years old (9.9±0.4; girls/boys, 81/82) serum 25-hydroxyvitamin D content was determined by chemiluminescent analysis (DiaSorin, Inc., USA; n=56 and Roche Diagnostics; n=107). ...

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ba0002p165 | (1) | ICCBH2013

Morquio disease in two sisters: clinical case

de Beldjenna Liliana Mejia , Lamoglia Juan Javier

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. Its a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...

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ba0002p166 | (1) | ICCBH2013

Severe metabolic bone disease of prematurity following continuous veno–veno haemofiltration

Elder Charlotte , Arundel Paul , Perring Jeff , Bishop Nick

A first twin born at 28 weeks gestation weighing 630 g underwent an end-to-end anastamosis for colonic stricture on day 92 of life. He collapsed with severe Escherichia coli sepsis post-operatively and became anuric. Venoveno haemofiltration (CVVH) was instituted as a life-preserving measure, continuing for 3 days.On day 119, osteopaenia and rachitic changes were noted on a chest X-ray. Review of his prior biochemistry showed a precipitous...

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ba0002p167 | (1) | ICCBH2013

Recurrent fractures and low bone mass in a patient with new mutation of LRP5 gene

Rusinska Agnieszka , Borowiec Maciej , Mlynarski Wojciech , Antosik Karolina , Michalus Izabela , Golec Joanna , Chlebna-Sokol Danuta

In recent years, the important role in bone remodelling Wnt/β-catenin pathway is highlighted. Key receptor of this pathway is LDL receptor-related protein 5 (LRP5). It was demonstrated in adults that polymorphism in LRP5 gene was associated with bone mineral density and fracture risk. So far no such studies were conducted in children.The aim of the study was the analysis of LRP5 and COL1A1 genes in a patient with r...

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ba0002p168 | (1) | ICCBH2013

Osteogenesis imperfecta: diagnostic difficulties due to clinical symptoms diversity: the results of own studies

Rusinska Agnieszka , Jakubowska-Pietkiewicz Elzbieta , Michalus Izabela , Kurnatowska Olga , Rychlowska Ewa , Golec Joanna , Chlebna-Sokol Danuta

Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by recurrent fractures and reduced bone mineral density. The severity of its symptoms varied from very mild to severe, which strongly affect the quality of life and cause premature death.The aim of the study is to compare the clinical symptoms of different types of osteogenesis imperfecta and to present diagnostic difficulties based on the analysis of our patients.</p...

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ba0002p169 | (1) | ICCBH2013

Milk, childhood and postmenopausal osteoporosis

Bazarrra-Fernandez Antonio

Objective: To determine if milk is always good for preventing osteoporosis in children anyway.Materials and methods: Worldwide bibliography review on the problem and our experience.Results: Studies performed in children and adolescents relate to the subject of the long-term relative effects on bone health of the protein content of the diet compared with that of the diets net load of acid in the body. Long-term acid loading in...

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ba0002p170 | (1) | ICCBH2013

Achondroplasia: medical and orthopedic management in a pediatric patient

de Beldjenna Liliana Mejia , Lamoglia Juan Javier

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of G...

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ba0002p171 | (1) | ICCBH2013

Vitamin D levels and signs of metabolic bone disease in adolescents with idiopathic scoliosis

Adodra Annika , Kouklinos Andreas , Julies Priscilla , Shaw Mathew , Jacobs Benjamin

Objective: Biochemical assessment of teenage patients with adolescent idiopathic scoliosis (AIS).Methods: Blood sampling from 120 patients with AIS aged 1217 years. The patients all had significant scoliosis and blood samples were taken a few days or weeks before they underwent scoliosis surgery. Serum 25-hydroxy-vitamin D (25-OHD), calcium, phosphate, alkaline phosphatase and parathyroid hormone (PTH) were measured. Patients with a 25-OHD level be...

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ba0002p172 | (1) | ICCBH2013

Longitudinal assessment of spinal bone mineral density in children with neurofibromatosis type 1 using dual energy absorptiometry and quantitative computed tomography

Eelloo Judith , Ward Kate , Huson Susan M , Adams Judith E , Russell Sarah , Wright Naville , Evans Gareth , Mughal M Zulf

Aim: Scoliosis is a common skeletal problem affecting 1030% of patients with neurofibromatosis type 1 (NF1). NF1 patients have been shown to have reduced bone mineral density (BMD) which may play a role in the pathogenesis or progression of scoliosis. Our centre is one of four international centres currently evaluating the efficacy of various spinal imaging techniques and BMD as predictors for scoliosis in NF1. In our cohort we measured the lumbar spine (LS) BMD both by ...

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ba0002p173 | (1) | ICCBH2013

Vitamin D prescription: a review of British National Formulary for children recommendations, and a proposal

Kouklinos Andreas , Lim Julian , Jacobs Benjamin

Aims: To review changes in the advice regarding vitamin D deficiency in the UK and compare these with other national guidance.Methods: All Vitamin D guidance in the Royal College of Paediatrics and Child Health 2003 guide (Medicines for Children) and in the eight editions since the British National Formulary for Children (BNFc) was first published in 2005 was reviewed.Results: Dosage and indications of prevalence are shown in the T...

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ba0002p174 | (1) | ICCBH2013

Elite child athlete is our future: bone lumbar spine adaptation in Egyptian children monofin athletes

Abouzeid Magdy

Objectives: Over the last several years, the Monofin has appeared with increasing regularity at swim practices throughout the world. Physical activity during childhood is advocated as one strategy for enhancing peak bone mass as a means to reduce osteoporosis. Clinical studies have found that non-impact sport like swimming are associated with normal to low bone densities. Little is known about the influence of monofin swimming during childhood on lumbar spine mass. This is a n...

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ba0002p175 | (1) | ICCBH2013

Correlation analysis of bone vibration frequency and its mass:volume ratio

Razaghi Hajar , Saatchi Reza , Offiah Amaka , Bishop Nick , Anthony Burke Derek Patrick

Background: Vibration analysis is a well-established technique in industry to analyse materials physical properties. The application to bones physical properties is unclear. This study investigated the relationship between bone vibration frequency and mass:volume ratio (ρ).Methods: We used eight turkey bones (tibio tursus). Following soft tissue removal, a 12 cm diaphyseal section was isolated, marrow removed using a water jet and the...

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ba0002p176 | (1) | ICCBH2013

One case of pseudohypoparathyroidism, clinical characterisation, follow-up and treatment

Lamoglia Juan Javier , de Beldjenna Liliana Mejia

Background: Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. With genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally inherited alleles also manifest resistance to multiple hormones (e.g. PTH, TSH, LH...

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ba0002p177 | (1) | ICCBH2013

The bone mineral density of children with CF

Roddy Marie , Elnazir Basil , McDonnell Ciara , Nadeem Montaseur , Greally Peter

Objectives: Low bone mineral density (BMD) is reported frequently in adult cystic fibrosis (CF) patients but the data is less consistent for children and adolescents. The aim of our study is to describe bone mineral density (BMD) in a group of children over a period of 10 years and to determine if BMD is related to vitamin D level, calcium intake, lung function, height and age.Methods: A retrospective review of 123 DXA scans conducted in 50 children with...

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ba0002p178 | (1) | ICCBH2013

Hypomagnesaemia with hypercalciuria secondary to mutations in the Claudin gene: a single-centre experience

Sukthankar Shaila , Shenoy Mohan , Mughal Zulf

Introduction: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease caused by mutations in Claudin 16 and 19 genes, often complicated by progressive renal failure. We describe the clinical and genetic features and management of this condition in three patients at our centre.Case 1: A 3-year-old south Asian boy with consanguinity presented with hypocalcemic seizures. Investigations revealed h...

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ba0002p179 | (1) | ICCBH2013

The impact of selective serotonin reuptake inhibitors on bone mineral density in the pediatric and young adult population

Feuer Alexis , Vogiatzi Maria

Objective: Serotonin is a neurotransmitter with multiple functions in the gastrointestinal tract and CNS. Recent animal studies indicate that serotonin regulates bone mass and remodelling. In humans, a handful of studies have shown decreased bone mineral density (BMD) in adults treated with selective serotonin reuptake inhibitors (SSRI) for depressive symptoms. Although SSRIs are prescribed in pediatric practice, there are few studies examining the effect of SSRIs on bon...

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ba0002p180 | (1) | ICCBH2013

Beyond brittle bones: a preliminary report from the osteogenesis imperfecta adult natural history initiative

Tosi Laura , McKiernan Fergus , Oetgen Matthew , Rak Melanie , Tucker Carole , Mulroy Kyle , Simmonds Barbara , Mancuso Angela , Kennelly Ann , Greco Lauren , Blankenship Winslow , Floor Marianne , Huber Mary Beth , Hart Tracy

Background: Osteogenesis imperfecta (OI) is a heterogeneous, rare disorder most commonly affecting type I collagen. The OI Adult Natural History Initiative (OI ANHI) was established following a 2010 Ostegenesis Imperfecta Foundation (OIF) national meeting at which patient participants noted that i) there is little information about the natural history and progression of OI beyond childhood, and ii) most of the data available are focused on musculoskeletal issues. Adults with O...

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ba0002p181 | (1) | ICCBH2013

Long-term imiglucerase/alglucerase treatment in Latin American children with type 1 Gaucher disease: lessons from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Camelo Jr Jose Simon , Cabello Juan Francisco , Drelichman Guillermo G , Kerstenetzky Marcelo M , Sarmiento Isabel C , Linares Adriana

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

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ba0002p182 | (1) | ICCBH2013

Reference curves for bone health index for Han children from five large cities in China, and a comparison to Asian-American children

Thodberg Hans Henrik , Zhang Shao-Yan

Objective: The bone health index (BHI) has previously been shown to be 1.5% lower in Asian children than in Caucasian children, both living in USA. The aim of this study is to present reference curves for BHI of Chinese Han children and to compare to Asian children living in USA.Method: BHI is derived from the cortical thickness in the three middle metacarpals. It is determined with the BoneXpert medical device, which automatically analyses a standard bo...

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ba0002p183 | (1) | ICCBH2013

Juvenile idiopathic osteoporosis: a case study

McDonnell Ciara , Gibbons Catherine , Murphy Nuala , Kilbane Mark , van der Kamp Susan , McKenna Malachi

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...

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ba0002p184 | (1) | ICCBH2013

High FGF23 measurements in a child with vitamin D dependent rickets type I: cause or consequence?

McDonnell Ciara , Treston Bryony , Murphy Nuala , Kilbane Mark , McKenna Malachi

Background: Defects in 1-α-hydroxylase enzyme activity result in reduced activity of 1,25(OH)2D causing vitamin D dependent rickets. Physiologically FGF23 levels are stimulated by a rise in 1,25(OH)2D which in turn suppresses 1-α-hydroxylase expression to complete the feedback loop.Presenting problem: A 15-month-old Irish Caucasian girl was referred by her GP for failure to weight bear. She was born at term via elective se...

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ba0002p185 | (1) | ICCBH2013

An unusual presentation of progressive osseous heteroplasia in a 7-year-old female child

Schrander D E , Welting T J , Schrander J J P , van Rhijn L W , Korver-Keularts I , Schrander-Stumpel C T R M

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albrights hereditary osteodystrophy or MccuneAlbright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

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ba0002p186 | (1) | ICCBH2013

Bone mass, bone microarchitecture and anthropometric measurements during childhood growth in Spanish girls

Rio Luis Del , Winzenrieth Renaud , Cormier Catherine , DiGregorio Silvana

The aim of the present study was to evaluate bone mass and bone microarchitectural texture as assessed by trabecular bone score (TBS) modification at spine during childhood growth in girls.The study group was composed of 415 healthy girls aged between 2 and 17 years old. Height, weight and BMI Z-scores were evaluated and compared to The WHO Child Growth Standards. Pubertal stage was evaluated using Tanner score. The areal BMD (aBMD) was assessed...

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ba0002p187 | (1) | ICCBH2013

Juvenile idiopathic osteoporosis responsive to intravenous alendronate

Guagnelli Miguel Angel , Yeste Diego , Clemente Maria , Garrido Marta , Carrascosa Antonio

Background: Osteoporosis in otherwise healthy children demands thorough study as it may be the first manifestation of an occult illness. When other diseases can be ruled out, juvenile idiopathic osteoporosis (JIO) is the purported diagnosis.PresentationWe report the case of an 8-year -old boy with no personal or family history of chronic disease who presented with sudden ankle pain unrelated to trauma and not responsive to rest and...

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ba0002p188 | (1) | ICCBH2013

Abstract withdrawn....

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ba0002p189 | (1) | ICCBH2013

Clinical features of temporary brittle bone disease

Paterson Colin R

Temporary brittle bone disease has been a controversial explanation of multiple unexplained fractures in early childhood. Evidence for its existence is growing. We report the clinical and laboratory features of 104 patients investigated personally. These patients had in aggregate 984 fractures or fracture-like lesions.Our patients included disproportionate numbers of infants born preterm or as a result of multiple pregnancy. The fractures were mainly ide...

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ba0002p190 | (1) | ICCBH2013

Vitamin D deficiency rickets in neonates

Paterson Colin R , Ayoub David

This paper reviews clinical reports of vitamin D deficiency rickets in neonates from 1930 onwards. In 24 reports there was good evidence of maternal deficiency. In some the diagnosis of the rickets led to the identification of symptomatic osteomalacia in the mothers; several had been severe and longstanding. Of the 15 mothers who had assays for serum 25-hydroxyvitamin D (25OHD) 13 had values <25 nmol/l (10 ng/ml) and 10 had values <12.5 nmol/l (5 ng/ml).<p class="a...

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ba0002p191 | (1) | ICCBH2013

Long-term follow-up in Stuve–Wiedemann syndrome: a case report

Sabrina Buonuomo Paola , Macchiaiolo Marina , Cambiaso Paola , Capolino Rossella , Digilio Maria Cristina , Andrea Bartuli

Background: StuveWiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

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ba0002p192 | (1) | ICCBH2013

The assessement of the vitamin D supply in the population of polish children at the age of 9–12 years: multicentre research: preliminary report

Chlebna-Sokol Danuta , Golec Joanna , Karalus Jolanta , Halaba Zenon , Karczmarewicz Elzbieta , Konstantynowicz Jerzy , Kulik-Rechberger Beata , Niedziela Marek , Dobrzanska Anna

Introduction: The importance of vitamin D in metabolism, bone growth and functioning of many organs and systems (the plejotropic effect) has been broadly discussed in the literature recently. The systemic deficiency of vitamin D connected with the lower sunlight exposure and the decreased diet supply favours to bone mineral density lowering and the bone structure disorganization. More and more often the common vitamin deficiency in children and adolescents has been observed. I...

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ba0002p193 | (1) | ICCBH2013

The effect of levothyroxine therapy on vitamin D and bone mineral density

Cayir Atilla , Turan Mehmet Ibrahim , Ozkan Behzat

Introduction: Treatment in thyroid function disorders, which lead to clinical hypothyroidism, is replacement with levothyroxine. We aimed to investigate the effect of long-term levothyroxine therapy on vitamin D metabolism and bone mineral density in children.Materials and methods: Twenty-seven children with hypothyroidism receiving levothyroxine therapy (M/F: 13/14, mean age, 12.1±0.7 years) and 21 healthy controls (M/F: 13/8, mean age, 11.8±0...

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ba0002p194 | (1) | ICCBH2013

Celiac disease underlying rickets in an adolescent

Demir Korcan , Celtik Coskun , Ozkan Behzat

Background: Bone health is negatively affected in children with celiac disease. Alterations in calcium and vitamin D metabolism are frequently encountered in children with celiac disease but rickets is rarely a presenting complaint.Presenting problem: The patient was first admitted at the age of 13 due to waddling gait and weight loss for 3 years.Clinical management: Detailed history revealed that loss of appetite and intermittent ...

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ba0002p195 | (1) | ICCBH2013

A case of progressive generalised osteolysis: a fibrous dysplasia or something else?

Boyadzhiev Veselin , Handjiev Diqn

Background: In pathological conditions the osteolysis is defined as a process of dissolution or degeneration of bone tissue due to abnormal bone resorbtion. It is rare in childhood and the diagnosis and the management is always a challenge.Presenting problem: We present a 10-year-old boy with multiple osteolytic lesions discovered initially when he was 2 years of age because of leg length discrepancy and waddling gait. The lesions are located predominant...

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ba0002p196 | (1) | ICCBH2013

Bigger but not stronger? GH treatment in Turner syndrome may confer no benefit to HR-pQCT determined bone micro-architecture

Nour Munier , Boyd Steven K , Perry Rebecca J , Stephure David K , Hanley David A

Turner syndrome (TS) is known to be associated with increased risk of osteoporosis and fracture. Childhood treatment with GH has been considered standard of care for treatment of growth failure in TS, while the influence of GH on bone health has been poorly understood. The purpose of this study is to assess the influence of GH on bone microarchitecture on a cohort of TS subjects.TS subjects aged 1645 were included. Bone mineral density (BMD) was as...

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ba0002p197 | (1) | ICCBH2013

Parathyroid hormone administered by continuous s.c. infusion is more effective than when given by intermittent injection

Cheung Moira , Buck Jackie , Brain Caroline , Allgrove Jeremy

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 134, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria.We report our experience with such a patient w...

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ba0002p198 | (1) | ICCBH2013

Severe hypercalcemia in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

Olivieri Francesca , Piona Claudia , Brugnara Milena , Morandi Grazia , Maines Evelina , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...

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ba0002p199 | (1) | ICCBH2013

Levels of 25(OH)vitamin D in children and adolescents with type 1 diabetes mellitus and in healthy controls in Bulgarian population

Slavcheva Olga , Konstantinova Maia , Tsekova Adelina , Savova Radka , Arshinkova Margarita

Objectives: The aim is to examine the serum levels of 25(OH)vitamin D in children and adolescents with type 1 diabetes mellitus and in healthy controls and to determine whether patients with diabetes have higher prevalence of vitamin D deficiency/insufficiency and whether it is correlated to its metabolic control.Methods: A cross-sectional study of 73 patients (35 males) aged 11.84±4.44 years and 27 healthy controls (15 males), aged 7.36±4.71 y...

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ba0002p200 | (1) | ICCBH2013

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ba0002p201 | (1) | ICCBH2013

Guided growth with hinge plates for lack of extension and fixed flexion of the knee

Galban Miguel , Villanueva Roceli , Carpio Annie

Lack of extension of the knee and fixed flexion of the knee may occur in patients with arthrogryposis, rheumatoid arthritis, achondroplasia, osteogenesis imperfecta, cerebral palsy and other conditions. They develop a crouch gait and this is an energy non-efficient condition that causes a compensatory flexion deformity of the hip and lumbar lordosis. Recommended treatments have included bracing, physical therapy, posterior release, distal femoral osteotomy or progressive distr...

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