BONE MINERAL DENSITY IN PATIENTS WITH SKELETAL DYSPLASIAS

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。这项研究的总体目标是检查与同龄普通人群相比，骨骼发育不良患者的骨密度是否发生改变。骨骼发育不良是一组以骨骼生长发育异常为特征的异质性疾病。包括与骨骼强度和完整性的原发改变相关的骨发育不良，以及影响软骨的软骨发育不良，从而影响骨骼的形状和纵向生长。这是一个试验性研究，因为没有描述这类患者骨密度的初步数据。这些受试者的骨密度测量将使用双能X射线吸收法(DXA扫描)以可靠的方式进行。对结果的分析将使我们能够设计进一步的研究方案，以建立基因突变和矿物沉积变化之间的相关性。此外，这些数据将为旨在确定不同干预措施对这些患者的管理效果的前瞻性研究提供基线。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The overall goal of this study is to examine whether patients with skeletal dysplasias have alterations in bone mineral density when compared to the general population of similar age. Skeletal dysplasias are a heterogeneous group of disorders characterized by abnormalities in the growth and development of the skeleton. The include the osteodysplasias, associated with primary alterations of bone strength and integrity, and chondrodysplasias which affect the cartilage, and hence, the shape and longitudinal growth of the skeleton. This is proposed as a pilot study since there are no preliminary data describing bone densities in this population of patients. Measurement of the bone mass density in these subjects will be performed in a reliable way using dual-energy X-ray absorptiometry (DXA scanning). Analysis of the results will allow us to design further research protocols to establish correlations between gene mutations and alterations in mineral deposition. Moreover, this data will provide a baseline for prospective studies aimed at determining the effects of different interventions for the managemnt of these patients.