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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

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

hrp0084p1-13 | Bone | ESPE2015

Osteogenesis Imperfecta: A Pilot Trial on Treatment with the RANKL-Antibody Denosumab

Hoyer-Kuhn Heike , Netzer Christian , Hero Barbara , Schoenau Eckhard , Semler Oliver

Background: Osteogenesis imperfecta (OI) is a rare disease leading to an increased bone fragility due to a reduced bone mass. Pathological fractures are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. No approved drugs for OI treatment in childhood are available.Objective and hypotheses: A prospective pilot study was performed to assess safety and effi...

hrp0084p1-14 | Bone | ESPE2015

No Secular Trend in Vitamin D Levels Over the Past 30 Years in Swedish Children

Andersson Bjorn , Albertsson-Wikland Kerstin , Swolin-Eide Diana , Magnusson Per

Background: The importance of vitamin D for skeletal health is well established and many recent reports indicate that vitamin D deficiency is linked to chronic diseases. Vitamin D status is defined by serum 25-hydroxyvitamin D (25(OH)D), and although there is no consensus on optimal levels of 25(OH)D concentrations of 50 nmol/l (20 ng/ml) meet the requirements in 97.5% of the population. In Sweden, sun cannot synthesize vitamin D during the winter, therefore supplementation is...

hrp0084p1-15 | Bone | ESPE2015

Lithium Chloride Prevents Glucocorticoid-Induced Growth Failure in Cultured Foetal Rat Metatarsal Bones

Soucek Ondrej , Zaman Farasat , Savendahl Lars

Background: Glucocorticoids (GCs) are frequently used to treat numerous chronic diseases in children. Beside their desired anti-inflammatory and immunosuppressive effects, GCs are well known to cause osteoporosis and impaired linear bone growth. These serious side effects of GCs have at least partially been linked to impairment of Wnt/β-catenin signalling. There is no therapy available to rescue from the undesired skeletal effects of GCs.Objective a...

hrp0084p1-16 | Bone | ESPE2015

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

Sawyer Eileen K , Anderson Karen

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

hrp0084p1-17 | Bone | ESPE2015

Humanin Prevents Undesired Apoptosis of Chondrocytes without Interfering with the Anti-Inflammatory Effect of Dexamethasone in a Model of Arthritis

Sederquist Bettina , Aulin Cecilia , Zaman Farasat , Savendahl Lars

Background: Glucocorticoids (GCs) are widely used for treatment of inflammatory and autoimmune conditions. Prolonged use of GCs, however, has several negative side effects, including bone growth impairment in children. Previous studies have shown that GC-induced apoptosis in growth plate chondrocytes is mediated by inhibition of the PI3K–Akt signaling pathway and activation of the pro-apoptotic protein Bax. Humanin, a small mitochondrial derived peptide, has shown promisi...

hrp0084p1-18 | Bone | ESPE2015

Response to Vitamin D Replacement is Determined by Body Surface Area in Children with Vitamin D Deficiency

Chung In Hyuk , Kang Yu Sun , Yoo Eun-Gyong

Background: The serum 25-hydroxyvitamin D (25OHD) levels are known to be lower in obese children, probably due to sequestration of vitamin D in the adipose tissue. However, there is no consensus on the dose adjustment for vitamin D supplementation in obese children with vitamin D deficiency (VDD).Aims: To compare the response to vitamin D replacement in normal weight vs overweight children with VDD, and to investigate the determinant for increment of 25O...

hrp0084p1-19 | Bone | ESPE2015

Bone–Muscle Unit Assessment with pQCT in Children with Inflammatory Bowel Disease Following Treatment with Infliximab

Altowati Mabrouka , Malik Umm-Ie-Salma , Shepherd Sheila , Mcgrogan Paraic , Russell Richard , Ahmed Faisal , Wong S C

Background: Biologic therapy may improve bone health, body composition, and muscle function in children with inflammatory bowel disease but the extent of improvement are unclear.Objective and hypotheses: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Method: Prospective longitudinal study of 19 children (12M), 17 Crohn’s disease (CD), one ulcerative colitis...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0084p1-21 | Bone | ESPE2015

Effects of Inorganic Phosphate and FGF23 on C2C12 Myoblast Cells

Raimann Adalbert , Dangl Alexander , Greber-Platzer Susanne , Egerbacher Monika , Haeusler Gabriele

Background: Dysregulation of phosphate homeostasis in diseases such as tumor-induced osteomalacia and chronic kidney disease are often associated with impairment of musculoskeletal tissue function. While various factors such as intracellular calcium levels and dysegulated endocrine mechanisms are thought to contribute, the role of single factors such as phosphate and its main regulating hormone FGF23 are only partly revealed.Objective and hypotheses: Ino...

hrp0084p1-22 | Bone | ESPE2015

Evaluation of Bone Mineral Density and Microarchitectural Parameters by DXA and HR-PQCT in 36 X-linked Hypophosphatemic Rickets Patients from a Single-Centre Study

Neto Guido de Paula Colares , Pereira Rosa Maria Rodrigues , Alvarenga Jackeline Couto , Takayama Liliam , Funari Mariana Ferreira de Assis , Martin Regina Matsunaga

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...