Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082p1-d3-46 | Bone (1) | ESPE2014

Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait?

Molin Arnaud , Baudouin Roseline , Coudray Nadia , Figueres Marie-Lucille , Jones Glennville , Kottler Marie-Laure

Background: Homozygous or compound heterozygous mutations of gene CYP24A1 have recently been reported to cause idiopathic infantile hypercalcemia due to increased intestinal absorption of calcium. However, an autosomal dominant transmission with partial penetrance of the trait was also suggested.Objective and hypotheses: Evaluation of the frequency of CYP24A1 mutation and evaluation of the impact of heterozygous mutation on calcium meta...

hrp0082p1-d3-47 | Bone (1) | ESPE2014

Relation Between CNP Signaling Pathway and the Effect of Combined Treatment with GnRHa and rhGH on the Linear Growth in Mid/Late Pubertal Girls at Great Bone Ages with CPP or EFP

M A Hua-mei , S U Zhe , L I Yin-ya

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

hrp0082p1-d3-48 | Bone (1) | ESPE2014

Paternal Isodisomy and Sporadic Pseudohypoparathyroidism I-b

Colson Cindy , Brehin Anne Claire , Abeguile Genevieve , Decamp Matthieu , Richard Nicolas , Kottler Marie-Laure

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

hrp0082p1-d3-49 | Bone (1) | ESPE2014

Vertebral Fracture Assessment in a Paediatric Population using Dual-Energy X-ray Absorptiometry

Kyriakou Andreas , Shepherd Sheila , Shaikh Guftar M , Ahmed Syed Faisal , Mason Avril

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

hrp0082p1-d3-50 | Bone (1) | ESPE2014

Genetic Study of Osteogenesis Imperfecta: Two Novel Mutations in COL1A1 and COL1A2

Castro-Feijoo Lidia , Loidi Lourdes , Quiroga Nuria , Cabanas Paloma , Heredia Claudia , Leis Rosaura , Barros Francisco , Pombo Manuel , Barreiro Jesus

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...

hrp0082p1-d3-51 | Bone (1) | ESPE2014

Bone Geometry, Volumetric Density, Microarchitecture and Estimated Bone Strength Assessed by HR-pQCT in Adult Patients with Hypophosphatemic Rickets

Shanbhogue Vikram v. , Hansen Stinus , Folkestad Lars , Brixen Kim , Beck-Nielsen Signe Sparre

Background: Hypophosphatemic rickets (HR) are rare, inheritable disorders caused by excessive renal phosphate wasting. Despite a generalized mineralization defect, patients with HR are reported with a lower risk of fracture.Objective and hypotheses: The aim of this study was to evaluate the effect of bone -geometry, -microarchitecture and volumetric BMD (vBMD) on the estimated bone strength in adult patients with HR using high-resolution peripheral quant...

hrp0082p1-d3-52 | Bone (1) | ESPE2014

Opposing Effects of Childhood Obesity on Radial and Tibial Bone Microstructure

Dimitri Paul , Jacques Richard , Paggiosi Margaret , King David , Walsh Jennifer , Bishop Nick , Eastell Richard

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

hrp0082p1-d3-53 | Bone (1) | ESPE2014

Bone Mineral Density Evaluation in Children with Gaucher Disease

Larroude Maria Silvia , Drelichman Guillermo , Cassinelli Hamilton , Richard Lucia , Ruiz Alba , Reicher Paola , Cuello Fernanda , Lanza Victoria , Fernandez Ramiro , Maro Alejandra , Corrales Marcela , Arizo Adriana , Escobar Nicolas Fernandez , Rapetti Cristina , Donato Hugo , Chain Juan Jose , Zirone Sandra , Cedola Alejandra , Bietti Julieta , Sweri Maia

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

hrp0082p1-d3-54 | Bone (1) | ESPE2014

Correlation of Sclerostin Levels with Bone Metabolism Markers and Bone Mineral Density in Children and Adolescents with Type 1 Diabetes Mellitus (T1DM)

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

Background: Sclerostin is an inhibitor of the Wnt/b-catenin bone metabolic pathway. Increased sclerostin levels and reduced bone mineral density (BMD) have been documented in adult patients with diabetes mellitus (DM), predominantly in those with T2DM. No relevant data exist on childhood T1DM.Objective and hypotheses: Our aim was to study plasma sclerostin concentration in children and adolescents with T1DM and controls and to correlate sclerostin levels...

hrp0082p1-d3-55 | Bone (1) | ESPE2014

Increased Osteoclast Activity in Children and Adolescents with Type 1 Diabetes Mellitus Indicated by Higher Levels of Osteoprotegerin and s-RANKL may Predispose to Lower Bone Mass

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

Background: Several bone metabolic pathways seem to be disrupted in patients with type 1 diabetes mellitus (T1DM), leading to reduced bone mass.Objective and hypotheses: Our aim was to study bone metabolism markers in children and adolescents with T1DM and their correlation with bone mineral density (BMD).Method: We evaluated 40 patients (mean±S.D. age 13.04±3.53 years, mean±S.D. T1DM du...

hrp0082p1-d3-56 | Bone (1) | ESPE2014

Effect of a Vibration Based Rehabilitation Concept On Bone and Muscle Development in Children with Osteogenesis Imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Struebing Nora , Goebel Oranna , Schoenau Eckhard

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

hrp0082p1-d3-57 | Bone (1) | ESPE2014

No Correlation Between 25OHD Status and Pro or Anti-Inflammatory Cytokines in Obese Children and Normal Weight Controls

Carroll Aoife , Onwuneme Chike , McKenna Malachi , Mayne Philip , Molloy Eleanor

Background: While the primary function of vitamin D relates to calcium and bone metabolism, it is now recognised that vitamin D is a potent immunomodulator. In vitro, 1,25(OH)2D has been shown to suppress pro-inflammatory cytokines, such as TNF-α and IL6, while up regulating synthesis of anti-inflammatory cytokines, IL10 and IL4. Previous in vitro studies have yielded inconsistent results on the relationship between 25OHD and cytokines in adul...