Searchable abstracts of presentations at key conferences on calcified tissues
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8th International Conference on Children's Bone Health

ba0006lb1 | (1) | ICCBH2017

Treatment with a Novel activin receptor IIB ligand trap improves muscle mass and bone geometry in a mouse model of severe Osteogenesis Imperfecta

Tauer Josephine T. , Rauch Frank

Objective: Osteogenesis imperfecta (OI) is primarily characterized by bone fragility but is also associated with lower muscle mass and function. As muscle mass and bone mass are closely linked, an intervention that increases muscle mass should also increase bone mass. Here we investigated the effect of a novel activin receptor IIB ligand trap, ACE-2494 (Acceleron Pharma), on skeletal muscle mass and bone properties in a mouse model of severe dominant OI, the Col1a1<su...

ba0006lb2 | (1) | ICCBH2017

The regulation of Smpd3 expression in skeletal tissues and its role in fracture healing

Manickam Garthiga , Li Jingjing , Hojo Hironori , Javed Amjad , Murshed Monzur

Bone fractures can be a serious and frequent problem for patients suffering from osteoporosis, metastatic bone cancer and congenital bone disorders. The promotion of new bone formation and mineralization can facilitate healing and stronger union of fractured bones. Our laboratory has identified important developmental roles of sphingomyelin phosphodiesterase 3 (SMPD3), which include the promotion of apoptosis of hypertrophic chondrocytes and mineralization of cartilage and bon...

ba0006lb3 | (1) | ICCBH2017

Mediating effect of muscle on the relationship of physical activity trajectories and bone outcomes: The Iowa Bone Development Study

Zymbal Vera , Baptista Fatima , Letuchy Elena M. , Janz Kathleen F.

Objectives: This study analysed prospective associations between two distinct developmental trajectories of objectively-measured physical activity and late adolescent bone parameters (age 17 yr) by exploring the mediating effects of lean soft tissue (LST), a surrogate of muscle mass.Methods: In approximately 349 participants (191 girls) of the Iowa Bone Development Study, physical activity was measured by accelerometry starting at age 5 and continuing at...

ba0006lb4 | (1) | ICCBH2017

Serious adverse effects of denosumab in adolescents treated for giant cell tumour of the bone: osteonecrosis of the jaw and rebound hypercalcaemia with acute kidney injury

Uday Suma , Gaston Louie , Grimer Robert , Joffe Jonathan , Hoegler Wolfgang

Introduction: Giant cell tumour of the bone (GCTB) is a benign, locally aggressive tumour whose neoplastic stromal cells express receptor activator of nuclear factor kappa-B ligand (RANKL) and activate its receptor RANK on osteoclast-like giant cells. Denosumab (RANKL inhibitor) is an FDA/EMA approved treatment for GCTB in adults and ‘skeletally mature’ adolescents. Safety concerns include oversuppression of bone remodelling, with risk of osteonecrosis of the jaw [ON...

ba0006lb5 | (1) | ICCBH2017

Role of type III sodium/phosphate co-transporters in the responsiveness of osteoblasts to extracellular inorganic phosphate

Michigami Toshimi , Yamazaki Miwa , Kawai Masanobu , Ozono Keiichi

Objectives: As osteoblasts mature, they acquire the expression of multiple molecules involved in phosphate metabolism, including dentin matrix protein 1 (DMP1) and fibroblast growth factor 23 (FGF23). This suggests that osteoblasts and osteocytes may sense and respond to alterations in the phosphate availability in their microenvironment. We previously reported that increased extracellular inorganic phosphate (Pi) triggered signal transduction in various cell types to alter ge...

ba0006lb6 | (1) | ICCBH2017

Altered bone metabolism in Fanconi anemia results from defective mesenchymal stem cell differentiation

Mazon Melody , Julien Jacinthe , Ung Roth-Visal , Picard Sylvain , Bisson Sarah-Kim , Mac-Way Fabrice , Carreau Madeleine

Fanconi anemia (FA) is a rare genetic disease associated with a progressive decline in hematopoietic stem cells leading to bone marrow failure. FA is also characterized by various developmental defects including short stature and skeletal malformations of the upper and lower limbs. Indeed, more than half of children affected with FA have radial-ray abnormalities with a tendency to early osteoporosis and osteopenia. However, the underlying mechanisms leading to bone defects in ...

ba0006lb7 | (1) | ICCBH2017

Musculoskeletal system in adolescents with type 1 diabetes

Maratova Klara , Soucek Ondrej , Matyskova Jana , Hlavka Zdenek , Petruzelkova Lenka , Obermannova Barbora , Pruhova Stepanka , Kolouskova Stanislava , Sumnik Zdenek

Background: Sarcopenia and osteoporosis are among the late complications of type 1 diabetes (T1D) in adults. Whether and to what extent musculoskeletal impairment is present in childhood and adolescence has yet to be determined. The aim of this study was to assess volumetric bone mineral density (BMD) and dynamic muscle function in adolescents with T1D and to assess the clinical and biochemical predictors of their musculoskeletal system.Methods: Ninety-f...

ba0006lb8 | (1) | ICCBH2017

Breech presentation is associated with neonatal and early childhood deficits in bone mass and size

Ireland Alex , Crozier Sarah , Heazell Alexander , Ward Kate , Godfrey Keith , Inskip Hazel , Cooper Cyrus , Harvey Nicholas

Animal studies suggest that fetal movements are key to healthy skeletal development, but evidence in humans is limited. Breech presentation occurs in 3% of term births and is associated with reduced fetal movement and higher incidence of hip dysplasias, but more general effects on bone development have not been explored.Offspring whole body bone outcomes were measured using dual-energy X-ray absorptiometry (DXA) at mean(SD) 6(5) days after birth in 993 i...

ba0006lb9 | (1) | ICCBH2017

The cellular immune response in children with inflammatory bowel disease may mediate their low bone mineral density: a pilot study

Penman Gareth , Camp David

Background: Children with inflammatory bowel disease (IBD) have reduced bone mineral density (BMD). The aim of this study was to investigate whether changes in patient’s cellular immune response correlate with reductions in BMD.Method: Children undergoing lower gastrointestinal endoscopy disease were approached with an aim of recruiting 15 patients newly diagnosed with Crohn’s Disease (CD) and 15 healthy controls. Lymphocytes were isolated from...

ba0006lb10 | (1) | ICCBH2017

Effects of long-term sedentary behaviour on the cortical bone mass and distribution during growth: The HAPPY bone study

Duckham Rachel L , Rantalainen Timo , Rodda Christine , Timperio Anna , Hawley Nicola , Hesketh Kylie

Introduction: Whilst it is well-established that sedentary behaviour may increase the risk of paediatric obesity, and potentially result in early onset cardio-metabolic diseases such as type 2 diabetes and cardiovascular disease, there is less consensus about the potential detrimental effects that long-term sedentary behaviour may have on bone health during childhood.Purpose: To determine if long-term sedentary behaviour affects accrual of bone mass, str...

ba0006lb11 | (1) | ICCBH2017

Bone health status as measured by DXA and pQCT in Indian Children with Thalassemia Major

Mandlik Rubina , Ekbote Veena , Ramanan Vijay , Kelkar Ketki , Pawar Jwala , Chiplonkar Shashi , Khadilkar Vaman , Khadilkar Anuradha , Padidela Raja , Mughal Zulf

Objective: Expansion of bone marrow, accumulation of iron, growth failure and delayed puberty affect bone health in thalassemia; data on bone density and geometry are scarce. Our objective was to assess bone density (by Dual Energy X-ray Absorptiometry, DXA) and geometry (by peripheral quantitative computed tomography, pQCT) in children with thalassemia major.Methods: Children with thalassemia were recruited from a hematology clinic in Pune (India) (Mean...

ba0006lb12 | (1) | ICCBH2017

Correlation of the first fracture time and COL1A1/2 mutations in patients with Osteogenesis Imperfecta

Zhytnik Lidiia , Maasalu Katre , Duy Binh Ho , Reimann Ene , Prans Ele , Koks Sulev , Martson Aare

Osteogenesis Imperfecta (OI) is a brittle bone disease, characterized with reduced bone mass and bone fragility of different severity due to collagen type I defects. Patients suffer from recurrent spontaneous fractures starting in the early childhood or before birth.The main aim of the study was to relate time of the first fracture with COL1A1/2 mutations causing OI.Total number of 167 unrelated OI patients from the Osteog...

ba0006lb13 | (1) | ICCBH2017

Low dose of intravenous pamidronate therapy in quadriplegic children with osteoporosis

Moon Soonjung , Kim Soonki , Kwon Youngse , Lee Jieun

Objectives: Quadriplegic children are more susceptible to osteoporosis because of various risk factors for the inhibition of bone metabolism. The importance of bone metabolism is being emphasized based on extending life span of the patients but research on this area is insufficient. Intravenous (IV) pamidronate is well known as an effective treatment for pediatric osteoporosis, but there are no treatment guidelines for accurate dose capacity and duration in quadriplegic childr...

ba0006lb14 | (1) | ICCBH2017

P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism

Balasubramanian Meena , Padidela Raja , Pollitt Rebecca , Bishop Nick , Mughal Zulf , Offiah Amaka , Wagner Bart , McCaughey Janine , Stephens David

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

ba0006lb15 | (1) | ICCBH2017

Consensus paper – Physiotherapy in children with OI

Semler Oliver , Mueller Brigitte , Mekking Dagmar

Physiotherapy is one of the most important therapeutic approaches in Osteogenesis imperfecta (OI) besides medical and surgical treatment. At the moment there are no guidelines and no consensus about appropriate physiotherapeutic concepts for children with OI. In each country different preferences regarding the therapeutic approaches (neuro developmental techniques, active and passive training, treadmill training, pool therapy etc) are used. There are hardly any scientific rese...

ba0006lb16 | (1) | ICCBH2017

Implementing an osteoporosis disease management program: what works and what doesn't work

Williams Kathy

Objectives: To identify and determine the extent to which effective/ineffective steps in the implementation of the Kaiser Permanente Southern California Healthy Bones Model of Care were perceived by physician champions and Healthy Bones Care Managers.Methods: The subjects in the study included 20 Physician Champions and 35 Healthy Bones Care Managers employed in the Kaiser Permanente Southern California Healthy Bones Model of Care.25 have been employed i...

ba0006lb17 | (1) | ICCBH2017

Bone health among boys with duchenne muscular dystrophy after initiation of glucocorticoids

Tung Joanna Yuet-ling , Chan Sophelia Hoi-shan

Objectives: Poor bone health in boys with Duchenne Muscular Dystrophy (DMD) due to muscle weakness and glucocorticoid treatment is a major concern. This study assesses the bone health status in DMD boys with glucocorticoid treatment in a single centre.Methods: A retrospective chart review from January 2009 to January 2017 was undertaken on all DMD cases with active follow-up in a single paediatric unit in a University-affiliated hospital. We assessed the...

ba0006lb18 | (1) | ICCBH2017

Occurrence of vitamin D and vitamin K deficiency in children with low-energy fractures

Karpinski Michal , Chojnowska Sylwia , Maresz Katarzyna , Milewski Robert , Popko Janusz , Badmaev Vladimir

Objective: Bone fractures are very common in children and their number is growing every year. Vitamin D has a proven role in the prevention of fractures. In the recent study, we have shown that children with low-energy fractures have significantly lower vitamin D blood levels compared to the children without fractures. Our data indicate that higher levels of vitamin D reduced the risk of fracture by 1.06 times (P<0.0005).Past decade has seen...

ba0006lb19 | (1) | ICCBH2017

Selected risk factors of fractures in children -own observation

Jakubowska-Pietkiewicz Elżbieta , Fendler Wojciech , Młynarski Wojciech , Chlebna-Sokoł Danuta , Matusik Paweł

Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers.Patients and methods: About 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bone turnover studies (Osteocalcin and Ntx).The study group was evaluated using restriction enzyme digestion at BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236), polymorphic sites of t...

ba0006lb20 | (1) | ICCBH2017

COL2A1 c.1609G>A (p.Gly537Ser) a pathogenic variant causing multiple skeletal abnormalities and severe short stature

Vlachopapadopoulou Elpis , Dikaiakou Irene , Manolakos Emmanouil , Panagiotopoulos Ioannis , Michalacos Stefanos

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...

ba0006lb21 | (1) | ICCBH2017

Morbid obesity and respiratory failure in a child with pseudohypoparathyroidism type 1A

Gal Moran , Sarouk Ifat , Levy-Shraga Yael

Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disorder caused by mutations in the gene GNAS. It is characterized by multi-hormone resistance, obesity, cognitive impairment and the Albright hereditary osteodystrophy phenotype. A recent study found a 4.4-fold increase risk of sleep apnea in children with PHP1A compared with similarly obese children.Objective: To describe a case of morbid obesity and respiratory failure in ...