Bone Abstracts

Biographical DetailsDr Gen Nishimura is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Meteropolitan Children’s Medical Center, Tokyo, Japan. After obtaining the medical degree at Keio University School of Medicine in Tokyo, Dr G Nishimura started his career of diagnostic radiology in the late 1970s. During the exposure to pediatric radiology in early 1980s, he develope...

The relationship between BMD T-score and FX risk has not been established in patients receiving osteoporosis therapy. In the FREEDOM Extension study, continuous DMAb therapy for up to 10 years increased BMD levels with no therapeutic plateau at lumbar spine or TH [Bone et al, ASBMR 2015]. Such improvements would only be meaningful if associated with FX reductions. We investigated the relationship between TH BMD T-score and NVFX in women who received DMAb during FREEDOM and tho...

Objective: Previous study in Hong Kong reported boy-to-girl ratio of limb fracture was 5.5:1 in the adolescent group. Chinese children have increased risk for forearm fracture during puberty. This study aimed to investigate cortical growth in healthy Chinese adolescents during pubertal growth.Methods: 214 boys and 219 girls aged between 7 and 17 years old with no bone diseases were recruited. Maturity was assessed by self-reported Tanner staging. Images ...

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Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objectives: To determine if genetic variants associated with principal component-derived areal bone mineral density (aBMD) loading scores.Methods: Our sample comprised 1,293 children of European ancestry enrolled in the longitudinal Bone Mineral Density in Childhood Study (52% female). The participants completed up to 7 annual study visits. From dual energy X-ray absorptiometry scans, sex and age-specific aBMD Z-scores were calculated for total hip, femo...

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

Objectives: Bisphosphonates are frequently used in children with skeletal disorders, however optimal dosing and regimens are unknown. Early treatment focused on pamidronate (PAM), a second-generation formulation, however use of zoledronate (ZOL), a more potent third-generation bisphosphonate, has recently increased due to shorter and less frequent infusions. The objective of this study is to compare short-term safety of ZOL and PAM in a pediatric population.<p class="abste...