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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p2-204 | Bone | ESPE2015

Children with Coeliac Disease on Gluten Free Diet have Normal Bone Mass, Geometry and Muscle Mass

Mackinder M , Wong S C , Tsiountsioura M , Shepherd S , Buchanan E , Edwards C , Ahmed S F , Gerasimidis K

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

hrp0084p2-205 | Bone | ESPE2015

Mechanism of Bone Disease in Prader-Willi Syndrome

Faienza Maria Felicia , Brunetti Giacomina , Grugni Graziano , Crino Antonino , Bocchini Sarah , Oranger Angela , Gigante Isabella , Piacente Laura , Ventura Annamaria , Colucci Silvia , Grano Maria , Cavallo Luciano , Delvecchio Maurizio

Background: Low bone mineral density (BMD) is found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. This bone fragility could be due to inadequate gonadal hormones levels during pubertal development, and to relative growth hormone insufficiency during childhood and adolescence. However, the mechanism/s of low BMD in PWS have not been clarified.Objective and hypotheses: ...

hrp0084p2-206 | Bone | ESPE2015

Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

Abali Saygin , Tamura Mayuko , Atay Zeynep , Isguven Pinar , Guran Tulay , Haliloglu Belma , Bas Serpil , Isojima Tsuyoshi , Turan Serap , Kitanaka Sachiko , Bereket Abdullah

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

hrp0084p2-207 | Bone | ESPE2015

A Novel PRKAR1A Gene Mutation with Mild Brachydactyly

Yagi Hiroko , Takagi Masaki , Mistui Toshikastu , Hasegawa Tomonobu , Hasegawa Yukihiro

Background: Acrodysostosis is a rare skeletal dysplasia with severe brachydactyly, facial dysostosis and nasal hypoplasia. Some patients show hormone resistance whose phenotypes are similar to pseudohypoparathyroidism (PHP). In 2012, PRKAR1A gene was identified as one of the responsible genes of Acrodysostosis with hormonal resistance (ADOHR). Generally, brachydactyly is severe and hormone resistance is mild in Acrodysostosis patients.Objective and hypot...

hrp0084p2-208 | Bone | ESPE2015

Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

Vargas Deisi Maria , Prust Daniela Oliveira , Galvao Jose Carlos

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...

hrp0084p2-209 | Bone | ESPE2015

Sclerostin and Its Associations with Energy Metabolism in Children and Adolescents

Wedrychowicz Anna , Starzyk Jerzy

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

hrp0084p2-210 | Bone | ESPE2015

Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

Giachero Federica , Elli Francesca M , Baricco Marta , Matarazzo Patrizia , Mantovani Giovanna , de Sanctis Luisa

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

hrp0084p2-211 | Bone | ESPE2015

Fibrous Cortical Defects and Non-Ossifying Fibromas in Patients with Precocious Puberty

Lee Bang Won , Shin Kyung-Sue

Background: Fibrous cortical defects (FCDs) and non-ossifying fibromas (NOFs) are the most common benign lesions of the skeletal system, with an estimated incidence of up to 30% in children and adolescents.Objective and hypotheses: Although their aetiologies are unknown, FCDs and NOFs develop mostly in regions of intense bone growth. We hypothesized that patients with precocious puberty (PP) would have a higher prevalence of FCDs and NOFs than age-matche...

hrp0084p2-212 | Bone | ESPE2015

The Effect of High Dose Oral 17ß Estradiol on Bone Mineralization and Body Composition in Young Women with Turner Syndrome – A 5 Year Randomized Controlled Clinical Trial

Cleemann Line , Holm Kirsten , Kobbernagel Hanne , Kristensen Bent , Skouby Sven Olaf , Jensen Andreas Emil Kryger , Gravholt Claus

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...

hrp0084p2-213 | Bone | ESPE2015

Comparison of Cost Benefits and Efficacy of Zoledronic Acid and Pamidronate in the Treatment of Osteogenesis Imperfecta in Children

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

Background: i.v. Pamidronate (PAM) has been used in the treatment of osteogenesis imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent i.v. Zoledronic acid (ZOL).Objective and hypotheses: To determine the clinical efficacy of i.v. PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Me...

hrp0084p2-214 | Bone | ESPE2015

TmP/GFR is a Useful Marker in Making a Clinical Diagnosis of X-Linked Hypophosphataemic Rickets Caused by the PHEX Gene Mutation

Takeda Ryojun , Miyai Kentaro , Takagi Masaki , Goto Masahiro , Ariyasu Daisuke , Izawa Masako , Igaki Junko , Suzuki Eri , Nakamura Yoshie , Hasegawa Yukihiro

Background: The clinical diagnosis of x-linked hypophosphatemic (XLH) rickets is based on a number of biochemical observations. These include a reduction in the percentage of tubular reabsorption of phosphate (%TRP), and in the maximal tubular phosphate reabsorption capacity corrected for glomerular filtration rate (TmP/GFR). However, it is important to maintain sufficient renal blood flow in order to accurately calculate TmP/GFR.Objective: The aims of t...

hrp0084p2-215 | Bone | ESPE2015

Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

Gusso Silmara , Colle Patricia , Derraik Jose G B , Biggs Janene , Munns Craig , Cutfield Wayne , Hofman Paul

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

hrp0084p2-216 | Bone | ESPE2015

A Case with Acrodysostosis and Hormone Resistance

Tunc Selma , Demir Korcan , Hazan Filiz , Kirbiyik Ozgur , Soyaltin Eren , Nalbantoglu Ozlem , Yildiz Melek , Korkmaz Huseyin Anil , Ozkan Behzat

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

hrp0084p2-217 | Bone | ESPE2015

The Spectrum of Molecular Defects in 64 Patients with Hypophosphatemic Rickets Identified by Targeted Next-Generation Sequencing

Kulikova Kristina , Kolodkina Anna , Vasilyev Evgeny , Petrov Vasily , Gofman Fedor , Horkin Anatoly , Kenis Vladimir , Petrov Michael , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...

hrp0084p2-218 | Bone | ESPE2015

Nephrocalcinosis and Nephrolithiasis in 36 X-Linked Hypophosphataemic Rickets Patients: Diagnostic Imaging and Evaluation of Risk Factors in a Single-Centre Study

Neto Guido de Paula Colares , Yamauchi Fernando Ide , Baroni Ronaldo Hueb , Fontenele Igor , Gomes Andrea Cavalanti , Chammas Maria Cristina , Matsunaga Regina

Background: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...

hrp0084p2-219 | Bone | ESPE2015

Early Increase of the Bone Formation Marker PINP is in a Higher Degree Related to Growth Response Compared to Bone Mineralization in GH Treated Prepubertal Children

Decker Ralph , Andersson Bjorn , Swolin-Eide Diana , Magnusson Per , Kristrom Berit , Albertsson-Wikland Kerstin

Background: It has been reported that short-term increases of the bone formation markers intact amino-terminal propeptide of type I procollagen (PINP), bone-specific alkaline phosphatase (BALP) and osteocalcin display different temporal patterns. In adults, the biphasic model of GH action in bone remodelling shows that GH treatment results initially in an increased bone resorption with a concomitant bone loss, which later on is followed by increased bone formation. In children...

hrp0084p2-220 | Bone | ESPE2015

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D Dependent Rickets Type I

Tahir Sophia , Demirbilek Huseyin , Ozbek Mehmet Nuri , Baran Riza Taner , Tanriverdi Sibel , Hussain Khalid

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

hrp0084p2-221 | Bone | ESPE2015

Evidence of a Link Between Resting Energy Expenditure and Bone Remodelling, Glucose Homeostasis and Adipokine Variations in Adolescent Girls with Anorexia Nervosa

Maimoun Laurent , Guillaume Sebastien , Lefbvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Sennec Maude , Dupuys Anne-Marie , Courtet Philippe , Thomas Eric , Mariano-Goulart Denis , Bringer Jacques , Renard Eric , Sultan Charles

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

hrp0084p2-222 | Bone | ESPE2015

Bone Density, HIV Infection and Antiretroviral Treatment: A 10-Year Follow-Up in Young Patients

Mora Stefano , Maruca Katia , Ambrosi Alessandro , Puzzovio Maria , Erba Paola , Nannini Pilar , Benincaso Annarita , Capelli Silvia , Giacomet Vania

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...

hrp0084p2-223 | Bone | ESPE2015

Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

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

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

hrp0084p2-224 | Bone | ESPE2015

Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

Joseph Shuko , Di Marco Marina , Horrocks Iain , Ahmed S Faisal , Wong S C

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

hrp0084p2-225 | Bone | ESPE2015

Early Detection of Increased Bone Turnover among Children and Adolescents with Type 1 Diabetes Mellitus

Wahab Amina Abdel , Sharkawy Sonia El , Attia Fadia , Amin Mona

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

hrp0084p2-226 | Bone | ESPE2015

Association between Oxidative Stress and Bone Turnover Markers in the Obese Children

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

Background: Recent data have been showed that free radicals are involved in either bone resorption and atherosclerosis development in adults. In paediatric population the important risk factor for the early atherosclerosis development is obesity, which can be also associated with the disturb bone turnover.Objective and hypotheses: The aim of the study was to evaluate the interrelationship between oxidative stress and bone turnover markers in obese childr...

hrp0084p2-227 | Bone | ESPE2015

Longitudinal Bone Development in Patients with Classical Congenital Adrenal Hyperplasia: Data Using Peripheral Quantitative Computed Tomography

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

Background and aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluated bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: 18 patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepubert...

hrp0084p2-228 | Bone | ESPE2015

Online Survey to Characterise the Burden of Illness in Children with X-Linked Hypophosphatemia

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

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

hrp0084p2-229 | Bone | ESPE2015

Comparison of the Response to Bisphosphonate Treatment between Acute Lymphoblastic Leukaemia and Osteogenesis Imperfecta Type I

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

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

hrp0084p2-230 | Bone | ESPE2015

The Relationship between Serum 25-Hydroxy Vitamin D and Parathyroid Hormone in Children

Kim Hae Soon , Kang Jung In , Han Ye Jin

Background: The lack of agreement in the definition of vitamin D deficiency may be due to differences in the study populations or in the assays used to measure 25OHD.Objective and hypotheses: The aim of this study is to evaluate the relationship between 25OHD and PTH, and define the level of vitamin D deficiency in a paediatric population.Method: Retrospective medical record of children (age: 0.1–18years, n=193) who v...

hrp0084p2-231 | Bone | ESPE2015

Cinacalcet Treatment in Girls with Hereditary Vitamin D Resistant Rickets

Sari Erkan , Ozkececi Firat , Akin Onur , Bolat Ahmet , Yesilkaya Ediz

Background: HVDRR is characterised by hypocalcaemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is diagnosed easily especially associated with alopecia.Objective and hypotheses: Successful treatment requires reversal of hypocalcaemia and secondary hyperparathyroidism and is usually failed by high dose calcitriol but sometimes accomplished by administration of high doses calcium. Some patients need enteral or parenteral co...

hrp0084p2-232 | Bone | ESPE2015

Regulation of Bone Growth Via Ligand-Specific Activation of Oestrogen Receptor α

Iravani Maryam , Lagerquist Marie , Ohlsson Claes , Savendahl Lars

Background: Oestrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose oestrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility.Objective and hypotheses: We hypothesised that oestrogenic ef...

hrp0084p2-233 | Bone | ESPE2015

Teriparatide (rhPTH) Therapy in a Boy with Hypoparathyroidism-Deafness-Renal Dysplasia Syndrome due to GATA3 Mutation

Giri Dinesh , Senniappan Senthil , Dharmaraj Poonam , Hatchard Lynne , Ramakrishnan Renuka

Background: Hypoparathyroidism is usually treated with calcium and vitamin D analogues. Replacing the deficient hormone using recombinant human parathormone Teriparatide (rhPTH) has not yet become a common practice. We report a 3-year-old boy with hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome who has been successfully treated with Teriparatide (1–34 rhPTH), who to our knowledge is only the second child reported in the literature to be successfully treated wit...

hrp0084p2-234 | Bone | ESPE2015

Variable Degree of Hormonal Resistance in Patients with Progressive Osseous Heteroplasia

Miyai Kentaro , Nishina Noriko , Takagi Masaki , Goto Masahiro , Hasegawa Yukihiro

Background: Progressive Osseous Heteroplasia (POH) is characterised by heterotopic ossifications in a deep muscle and fascia. To date, GNAS1 gene loss-of-function mutations on paternal allele were reported as responsible for POH. Unlike other GNAS1 related diseases such as pseudohypoparathyroidism 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP), patients with typical POH do not show hormonal resistance (HR) or Albright hereditary osteodystrophy (AHO). But some patients dia...

hrp0084p2-235 | Bone | ESPE2015

Assessment of Foramen Magnum in Early Infancy is Efficient for Patients with Achondroplasia

Sogi Chisumi , Kamimura Miki , Hakoda Akiko , Kanno Junko , Fujiwara Ikuma , Kure Shigeo

Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.<p cla...

hrp0084p2-236 | Bone | ESPE2015

Body Composition Measures on Different DEXA Scanners are not the Same

Meinhardt Udo , Witassek Fabienne , Fritz Christiane , Eiholzer Urs

Background: Body composition measures differ between DEXA scanners. If an old DEXA is replaced a transition period for double measurements on the old and the new scanner is needed.Objective and hypotheses: To evaluate differences between the old (Hologic QDR 2000) and new (Hologic Discovery Wi) scanner and to calculate formula transforming measurements.Method: 51 double measurements were performed on a group of 41 children and adul...

hrp0084p2-237 | Bone | ESPE2015

Intrauterine Growth Restriction, Gestational Age, Steroidal Prophylaxis and Breastfeeding Influence Bone Mass in Prepubertal Children

Calcagno Annalisa , Pala Giovanna , Allegri Anna Elsa Maria , Napoli Flavia , Fratangeli Nadia , Calevo Maria Grazia , Maghnie Mohamad , Di Iorgi Natascia

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

hrp0084p2-238 | Bone | ESPE2015

Can Vitamin D Deficiency Cause Prolongation in Visual Evoked Potentials?

Dogan Murat , Aydin Ilyas , Kaba Sultan , Bala Keziban Asli , Gulpinar Ozlem

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...

hrp0084p2-239 | Bone | ESPE2015

Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

Demir Korcan , Kattan Walaa E , Zou Minjing , Durmaz Erdem , BinEssa Huda , Nalbantoglu Ozlem , Al-Rijjal Roua A , Meyer Brian , Ozkan Behzat , Shi Yufei

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

hrp0084p2-240 | Bone | ESPE2015

Size-Corrected Bone Mineral Density is not Affected by Haematopoietic Stem Cell Transplantation and Total Body Irradiation in Leukaemia Survivors

Wei Christina , Elson Ruth , Cox Rachel , Bradley Karin , Barton John , Stevens Michael , Crowne Elizabeth

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...

hrp0084p2-241 | Bone | ESPE2015

Quantitative Sonometeric Bone Age as a Function of Height and BMI

German Alina , Koren-Morag Nira , Levin Shmuel , Hochberg Ze'ev

Background: We have previously shown that bone age (BA) assessment by SonicBone BAUSTM, measuring the speed of sound (SOS) of US waves propagating along measured bone, is reproducible and comparable to both GP and TW3 x-ray assessment of BA. This provides a safe and irradiation-free method to the assessment of BA in healthy children.Objective and hypothesis: We aimed to understand the dependency of BA on a child’s height and BMI using son...

hrp0084p2-242 | Bone | ESPE2015

The Association of Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders with the Mean Platelet Volume and Vitamin D

Bala Keziban Asli , Dogan Murat , Mutluer Tuba , Kaba Sultan , Aslan Oktay , Demir Nihat , Ustyol Lokman

Purpose: The purpose of this study was to assess the values of the mean platelet volume (MPV), a predictor of cardiovascular disease, in paediatric patients with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASD), in addition to healthy controls, to determine the risk of cardiovascular disease in these two disorder groups.Material and method: The study included a total of 79 patients aged 3–18 with ADHD (36 pati...