Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p069 | (1) | ICCBH2017

Multiple fractures that begun in utero in a pre-adolescent child with low ALP levels and nephrocalcinosis: clinical aproximation for the differential diagnosis of hypophosphatasia (HPP)

Fernandez Maria Isabel Gonzalez , Montesinos Berta Lopez , Marti Miguel , Calvo Inmaculada

Objectives: Differential diagnosis vs. Osteogenesis Imperfecta (OI).Methods: The parents were Moroccan origin, consanguineous. The patient is an 8 year old girl, who was visited for a first time in our hospital in October 2016, presenting a fracture of the left femur, with dramatic bone deformations, with important disability, unable to walk and with growth retardation (weight 15 kg, length: 92 cm). The first registered fracture is at birth, consisting o...

ba0006p092 | (1) | ICCBH2017

Bone mineral density and quantitative ultrasound in the longitudinal monitoring of bone status in patient with Neurofibromatosis Type 1

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

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

ba0007p18 | (1) | ICCBH2019

Bone mass and fracture prevalence in childhood brain cancer survivors (CBCS) 2 or 5 years after off therapy

Di Iorgi Natascia , Gallizia Annalisa , Mauro Vera , Crocco Marco , Garre Maria Luisa , Maghnie Mohamad

Background and aim: Multifaceted risk factors impair bone mass in childhood cancer survivors. Aims of the study were to evaluate bone mass and it’s determinant and fracture prevalence in CBCS 2 (G+2) or 5 (G+5) years after off therapy (OT).Methods: Seventy-three (G+2) and 87 (G+5) CBCS were evaluated at 12.9±4.2 and 14.9±4.4 yrs, respectively. Diagnoses were: astrocytic (G+2:n=25, G+5:n=24), embryonal (G+2:n=28, ...

ba0007p38 | (1) | ICCBH2019

Clinical features and approach to treatment in pediatric patients with McCune-Albright syndrome: monocentric experience

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kolodkina Anna , Kalinchenko Natalia , Petrov Michael , Zubkova Natalia , Peterkova Valentina

McCune-Albright-Syndrome (MAS) is a rare multisystem disorder presenting with polyostotic fibrous dysplasia accompanied by a list of extraskeletal features including café-aulait spots and various endocrine hyperfunctioning. There is no effective treatment for FD in MAS nowadays. Patients with MAS (n=60, 49 girls(G) and 11 boys (B) have been diagnosed and followed up during 20 years in the Institute of Pediatric Endocrinology. First clinical manifestations were pe...

ba0007p180 | (1) | ICCBH2019

A retrospective review of modern spine surgery in the skeletal dysplasia population

Lovecchio Francis , Shafi Karim , Steinhaus Michael , Samuel Andre , Farmer James , Sava Maria , Carter Erin , Raggio Cathleen

Objective: Existing case series examining outcomes following spine surgery for patients with skeletal dysplasias demonstrate high rates of complications. Yet, these earlier studies are from a single institution, contain surgeries performed almost 50 years ago, and only include patients with a diagnosis of achondroplasia. The objective is to determine contemporary outcomes after spinal surgery in patients with skeletal dypslasias, focusing on complications and revisions. We pre...

ba0007p183 | (1) | ICCBH2019

Functional outcomes of an adult with Osteogenesis Imperfecta after rehabilitation post-bilateral Girdlestone procedure: a case report

Supnet Isabella , Abiera Joycie Eulah , Alcausin Maria Melanie Liberty , Javier Juanito , Sumpaico Carlo Emmanuel

Osteogenesis imperfecta is a disorder characterized by bone fragility. Current management includes the usage of bisphosphonates to improve bone stock and manage pain. Outcomes in adults have mainly been reported in terms of presentation compared to genotype, most probably due to the heterogeneity of the disease. The head and neck resection of the femur, or Girdlestone procedure, was a common procedure to treat infections of the hip but it has fallen out of favor due to the adv...

ba0007p218 | (1) | ICCBH2019

Hypercalcemia and parathyroid hormone-related peptide expression in a 3 months old boy with Colon Hemangioendothelioma

Maury Kelly , Martin Maria Julia , Figueroa Veronica , Yogui Analia , Gentili Claudia , Brunetto Oscar

Introduction: Epithelioid hemangioendothelioma (HEE) is a tumor of vascular origin, infrequent in the pediatric age and even more infrequent at intestinal level. To our knowledge, there are no previous reports of pediatric patients with malignant humoral hypercalcemia associated with this tumor. Humoral mechanism is seen more often in lung, uterine cérvix, skin and esophagus tumors. The presence of hypercalcemia appears to be an ominous prognostic sign.<p class="abste...

ba0006pl1 | (1) | ICCBH2017

Poster List

Poster No. Category Title Author P002 Bone development A 3-year longitudinal study of skeletal effects and growth in children after kidney transplantation <a href="ba...

ba0001oc2.2 | Bone quality and fracture repair - animal models | ECTS2013

Intermittent human parathyroid hormone (1–84) treatment improves bone mass and bone defect healing in rats with type 2 diabetes mellitus

Hamann Christine , Picke Ann-Kristin , Rauner Martina , Bernhardt Ricardo , Campbell Graeme , Gluer Claus-Christian , Hofbauer Lorenz C

The pathogenesis of skeletal fragility in diabetes mellitus is poorly defined and efficient therapies are limited. Zucker diabetic fatty (ZDF) rats with type 2 diabetes mellitus display low bone mass and delayed bone defect healing. We tested whether intermittent treatment with human parathyroid hormone 1–84 (PTH) increases bone mass and bone defect regeneration in diabetic rats.A subcritical gap defect was created at the femur of 10 weeks old diabe...

ba0003pp18 | Bone biomechanics and quality | ECTS2014

Influence of PTH treatment on the bone tissue mechanics of rats with type 2 diabetes mellitus using mechanical tests and finite element modelling

Campbell Graeme , Hamann Christine , Picke Ann-Kristin , Rauner Martina , Huber Gerd , Morlock Michael , Hofbauer Lorenz , Gluer Claus-Christian

Diabetes mellitus results in increased skeletal fragility through reduced bone mineral density and altered collagen structure. How these changes affect bone mechanics at the tissue level remains largely unclear. Anti-osteoporosis medications improve bone mass, but whether they can fully restore tissue strength in diabetic bone, where collagen quality is compromised, has not been fully elucidated. The objective of this study was to determine the effect of type 2 diabetes mellit...