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ba0004op1 | (1) | ICCBH2015

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

Webb Emma , Balasubramanian Meena , Cole Trevor , Stewart Sue , Crabtree Nicola , Vogt Julie , Roschger Paul , Fratzl-Zelman Nadja , Klaushofer Klaus , Hogler Wolfgang

Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...

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ba0004op2 | (1) | ICCBH2015

Abstract withdrawn....

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ba0004op3 | (1) | ICCBH2015

Increase of preosteoclasts and secretion of PDGF-BB by inhibition of cathepsin K activity increases mouse bone mass during development

Crane Janet , Ye Zixing , Xie Hui , Xia Zhuying , Cao Xu

Objective: Accretion of bone mass in childhood is dependent on both bone modeling and remodeling. We recently found that preosteoclasts secrete platelet derived growth factor type BB (PDGF-BB) to promote angiogenesis coupling with osteogenesis during both modeling and remodeling. As secretion of PDGF-BB by preosteoclasts can be enhanced through inhibition of cathepsin K activity to increase bone mass in adults, we explored if increase of secretion of PDGF-BB by preosteoclasts ...

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ba0004op4 | (1) | ICCBH2015

Transplantation of culture-expanded bone marrow cells and platelet rich plasma in lower limb lengthening for short stature patients

Kitoh Hiroshi , Mishima Kenichi , Matsushita Masaki , Ishiguro Naoki

Objectives: We have performed a novel cell therapy using culture-expanded bone marrow cells (BMC) and platelet rich plasma (PRP) during limb lengthening procedure since 2002. In the present study, we evaluated the efficacy of the cell therapy on new bone regenerates in patients with achondroplasia (ACH) and hypochondroplasia (HCH).Methods: The transplantation technique of BMC and PRP was described previously (Bone 40: 522528, 2007). Inclusion crite...

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ba0004op5 | (1) | ICCBH2015

Osteoclast phenotype of giant multinucleated cells in cherubism may determine the disease aggressiveness

Kadlub Natacha , Sessiecq Quentin , Lehalle Daphne , Badoual Cecile , Majouffre Claire , Berdal Ariane , Vazquez Marie-Paule , Descroix Vianney , Picard Arnaud , Coudert Amelie

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...

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ba0004op6 | (1) | ICCBH2015

Genetic variation is involved in impairment of bone mineral density in long-term adult survivors of childhood cancer

den Hoed M A H , Pluijm S M F , Stolk L , Uiterlinden A G , Pieters R , van den Heuvel-Eibrink M M

Introduction: Despite similarities in upfront treatment, impairment of bone mineral density(BMD) varies in long-term adult survivors of childhood cancer (CCS). We studied for the first time whether genetic variation is involved in impairment of BMD in adult long-term CCS.Method: This cross-sectional single-center cohort study included 334 adult CCS (median follow-up time: 15.2 years (range 5.139.8); median age at follow-up: 26.1 years (range 18.1&#...

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ba0004op7 | (1) | ICCBH2015

Lessons from homocystinuria: Cystathionine beta-synthase as a novel marker for osteogenic differentiation of human mesenchymal stem cells

Gambari Laura , Manferdini Cristina , Gabusi Elena , Paolella Francesca , Lisignoli Gina , Mariani Erminia , Grassi Francesco

Objective: Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency, is a rare autosomal recessively inherited disease characterized by the multiple involvement on different organs. While the most striking cause of morbidity and mortality is thromboembolism, patients develop a marked osteoporosis at early age along with many other skeletal abnormalities. As CBS normally converts homocysteine to cystathionine, the result of CBS deficiency is an accumulation ...

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ba0004op8 | (1) | ICCBH2015

Characterising the muscle-bone unit in children and adolescents with and without cystic fibrosis using novel imaging techniques and jumping mechanography

Riddell Amy , Crabtree Nicola , Ross-Russell Robert , Solis-Trapala Ivonne , Prentice Ann , Ward Kate

Cystic fibrosis(CF) results in low volumetric bone mineral density(vBMD), poor muscle strength and increased fracture risk in young patients. The aim of this study was to compare bone and muscle variables measured by peripheral and high-resolution QCT (pQCT and HR-pQCT) and jumping mechanography (JM) In CF children and healthy controls. We hypothesised that CF children have lower muscle force and power (Fmax and Pmax) than controls which may contribute to CF-related bone disea...

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ba0004op9 | (1) | ICCBH2015

Growth, body mass index, bone health and ambulatory status of boys with Duchenne Muscular Dystrophy treated with daily vs intermittent oral glucocorticoid regimen

Crabtree Nicola , Padidela Raja , Shaw Nicholas , Hogler Wolfgang , Roper Helen , Hughes Imelda , Adams Judith , Daniel Anjali , Mughal Zulf

Background: Oral glucocorticoids (GC; prednisolone dose of 0.75 mg/kg per day), help to preserve muscle strength and prolong independent walking in boys with DMD. This study compared longitudinal growth, body mass index (BMI), bone mineral density (BMD), vertebral fractures (VFs) and ambulatory status in boys with DMD on daily (DAILY) or intermittent (INTER; 10 days on & 10 days off), oral GC regimens.Methods: 50 DMD boys from two UK centres were inc...

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ba0004op10 | (1) | ICCBH2015

Does degree of adiposity influence upper limb fracture site in children?

Moon Rebecca , Lim Adelynn , Farmer Megan , Segaran Avinash , Clarke Nicholas , Harvey Nicholas , Dennison Elaine , Cooper Cyrus , Davies Justin

Although it has been suggested that overweight and obese children have an increased risk of fracture, recent studies in post-menopausal women have shown that the relationship between obesity and fracture risk varies by fracture site. Thus, obesity is protective against wrist fractures but confers an increased risk of humeral fractures. There are no data to suggest whether this observation is also present in children. We therefore assessed whether adiposity and overweight/obesi...

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ba0004op11 | (1) | ICCBH2015

Optimal dose of calcium for treatment of nutritional rickets

Thacher Tom , Smith Lauren , Fischer Philip , Cha Stephen , Isichei Christian , Pettifor John

Objective: Nutritional rickets in Nigerian children is primarily due to dietary calcium deficiency and heals with calcium supplementation. Our aim was to determine the optimal dose of calcium for treatment of children with rickets due to dietary calcium deficiency.Methods: At the Jos University Teaching Hospital, 65 Nigerian children with radiographically-confirmed rickets were randomized to daily supplemental calcium intake of 500 mg (n=21), 10...

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ba0004op12 | (1) | ICCBH2015

A non-invasive method for screening vitamin D insufficiency for adolescents using skin colourimetry

Lam Tsz Ping , Lee Wayne Y W , Cheung Franco T F , Tsang Echo K L , Wong Lyn L N , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y

Introduction: Effective screening for vitamin D (Vit-D) insufficiency is desirable. Pigmentation of unexposed (constitutive) skin and exposed (facultative) skin can be measured with skin colourimetry to assess dermal capability in synthesizing Vit-D and degree of sunlight exposure respectively. This study aimed at evaluating whether skin colourimetry could be used to screen Vit-D insufficiency among adolescents.Methods: 240 healthy adolescents (mean age=...

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Bone Abstracts

7th International Conference on Children's Bone Health

Oral Posters

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

Increase of preosteoclasts and secretion of PDGF-BB by inhibition of cathepsin K activity increases mouse bone mass during development

Transplantation of culture-expanded bone marrow cells and platelet rich plasma in lower limb lengthening for short stature patients

Osteoclast phenotype of giant multinucleated cells in cherubism may determine the disease aggressiveness

Genetic variation is involved in impairment of bone mineral density in long-term adult survivors of childhood cancer

Lessons from homocystinuria: Cystathionine beta-synthase as a novel marker for osteogenic differentiation of human mesenchymal stem cells

Characterising the muscle-bone unit in children and adolescents with and without cystic fibrosis using novel imaging techniques and jumping mechanography

Growth, body mass index, bone health and ambulatory status of boys with Duchenne Muscular Dystrophy treated with daily vs intermittent oral glucocorticoid regimen

Does degree of adiposity influence upper limb fracture site in children?

Optimal dose of calcium for treatment of nutritional rickets

A non-invasive method for screening vitamin D insufficiency for adolescents using skin colourimetry

BiosciAbstracts