Bone Abstracts

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 ...

Objectives: Creation of reference curves for areal bone mineral density (aBMD) and bone mineral content (BMC) with consideration of relevant anthropometric variables.Methods: Analysis of the dual-energy X-ray absorptiometry (DXA) data collected as part of the Bone Mineral Density in Childhood Study1, including 2012 boys and girls, 5–22 years old, with a total of 10 525 visits, resulting in aBMD and BMC observations at the lumbar spine, hi...

Objective: Evidence for further reduction of nonvertebral fracture (NVFX) beyond 3 years of antiresorptive therapy is limited. Since long-term denosumab (DMAb) treatment is associated with continuous increases in BMD and sustained fracture reduction, we analyzed the influence of femoral neck (FN) BMD after 3 years on NVFX rates.Methods: Long-term subjects received 7 continuous years of DMAb; cross-over subjects received 3 years of placebo (FREEDOM) and 4...

Background: Hypoxia induces mesenchymal stem cells (MSCs) proliferation but results in a population with impaired osteogenic differentiation potential. Bone healing of tibial lengthening is enhanced by hyperbaric oxygen therapy. However, little is known about the effects of HBO on the Wnt signaling pathway in MSCs.Materials and methods: MSCs were cultured in complete medium and the osteogenic groups were cultured in osteogenic induction medium. Control c...

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controlsMethod: 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) underwent pQCT at 4%, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as median (range).Result: Median TTG was 1.8 IU/l (0.1, 114) wi...

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Neuropeptide Y Y1 receptor (Y1R) signalling has been shown to play a key role in bone homeostasis, emerging as a novel therapeutic target in bone diseases. Y1R knockout mice (Y1−/−) display a high-bone mass phenotype that has been mainly attributed to increased osteoblast activity. Nevertheless, the Y1R regulatory role on osteoclastogenesis and matrix resorption remains largely unknown. To clarify th...

Purpose: Research suggests that dancers are at higher risk of developing low bone mineral density (BMD) compared with the general population. However, the associated factors contributing to low BMD in dancers are not fully understood. We aimed to assess the association of single-nucleotide polymorphisms (SNPs) in the Wnt/β-catenin and oestrogen receptor (ER) signalling pathways with low BMD in dancers.Methods: A genetic association study was conduct...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...