Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p415 | Osteoporosis: treatment | ECTS2016

rs72658163, a new heterozygous variant in COL1A2 associated with atypical femoral fracture

Funck-Brentano Thomas , Ostertag Agnes , Debiais Francoise , Fardellone Patrice , Collet Corinne , Mornet Etienne , Cohen-Solal Martine

Atypical femoral fractures (AFF) of the subtrochanteric region are rare. Bisphosphonates account to a large extent to their occurrence, however AFF also occur without exposure to bone medication. We here assessed the genetic factors associated with AFF among subtrochanteric fractures. Cases of subtrochanteric or femoral shaft fractures were identified through ICD-10 codes in three French academic centers from 2007 to 2010. Medical records were analyzed by two investigators tha...

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...

ba0006p133 | (1) | ICCBH2017

Long term treatment with intravenous pamidronate in two children with severe form of juvenile Paget's disease

Verfurth Katja , Hovel Matthias , Schundeln Michael , Bauer Jens , Grasemann Corinna

Presenting problem: Severe forms of juvenile Paget’s Syndrome (JPD) result in extreme bone turnover, necessitating long-term treatment with anti-resorptive drugs to control for bone pain and modeling of bones.Objective: To report clinical and biochemical effects of intravenous treatment with Pamidronate in two children with severe forms of JPD over a time period of 3 and 9 years, respectively. Treatment was commenced at 12 months and 3 years of age,...

ba0001pp253 | Chondrocytes and cartilage | ECTS2013

Can adrenomedullin be a potential osteoarthritis treatment?

Chatron-Colliet Aurore , Velard Frederic , Come Dominique , Lin Hilene , Ea Hang Korng , Liote Frederic

Objective: Chondrolysis, chondrocyte apoptosis, and local inflammation are described to exacerbate osteoarthritis development. We therefore aimed to investigate the effect of adrenomedullin (ADM) and its truncated peptide (22–52ADM) on in vitro and in vivo models. Both have exhibited anti-apoptotic and anti-inflammatory properties in collagen-induced arthritis (CIA) in mice.Methods: In normoxia or hypoxia (physiological condition),...

ba0003pp410 | Paediatric bone disease | ECTS2014

Bone health in children with hemolytic anemia: does the pathogenesis of hemolysis determine the phenotype of bone alteration?

Schundeln Michael , Goretzki Sarah , Hauffa Pia , Marschke Laura , Wieland Regina , Bauer Jens , Hauffa Berthold , Grasemann Corinna

Introduction: Bone health in patients with sickle cell disease and thalassemia is impaired. These patients feature altered parameters of bone metabolism and bone mineral density.Aim and design: To investigate bone health in patients with hemolytic anemia we conducted a cross-sectional analysis in our Hematology Outpatient Clinic at the Children’s Hospital Essen. The largest subgroups within our cohort are patients with homozygous sickle cell (HBSS) ...

ba0006p205 | (1) | ICCBH2017

Osteopathologies and endocrine late effects in a cohort of 102 juvenile survivors of brain tumors

Schundeln Michael , Fritzemeier Sebastian , Hauffa Pia , Bauer Jens , Hauffa Berthold , Grasemann Corinna

Objectives: Endocrine late effects, including osteopathologies, following diagnosis and treatment of childhood malignancies are studied in adult survivors with alarming results. However, in pediatric patients with brain tumors the risk to develop endocrine late effects is high even during childhood and adolescence.Aim and design: To investigate osteopathologies and endocrine function in juvenile survivors of pediatric brain tumors we conducted a cross-se...

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...

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 Paget’s 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...

ba0005p31 | Bone biomechanics and quality | ECTS2016

Site specific bone loss induced by spaceflight in mice: a multiscale evaluation of trabecular and cortical structure and quality

Gerbaix Maude , Gnyubkin Vasily , Delphine Farlay , Helene Follet , Patrick Ammann , Cecile Olivier , Francoise Peyrin , Norbert Laroche , Boris Shenkman , Guillemette Gauquelin-Koch , Laurence Vico

Intrinsic quality, micro and nano structure of bone after 1 month of spaceflight and during 1 week of recovery had never been investigated. The aim was to explore these properties in appendicular and axial skeleton of mature mice.Ten C57/Bl6 male mice flew on the 30-day space Russian BION-M1 high-orbit satellite mission (Biomedical Ethics Commission of IBMP, n°319). Five were euthanized 12 h after landing, the others 8 days later. A ground control g...

ba0003pp402 | Other diseases of bone and mineral metabolism | ECTS2014

Clinical case of a patient with severe tertiary hyperparathyroidism, osteitis fibrosa cystica and osteomalacia as a consequence of severe vitamin D deficiency

Peretokina Elena , Mokrysheva Natalya

Vitamin D (vit D) plays an important role in the regulation of mineral homeostasis. Vit D insufficiency leads to decreased calcium and phosphorous intestinal absorption, parathyroid glands (PG) stimulation with consequent development of secondary hyperparathyroidism (HPT) and bone mineralization defect. We present a clinical case of a patient with tertiary HPT as a consequence of severe vit D deficiency.A clinical case: A woman 59 years old considered he...