BONE MINERAL DENSITY IN PATIENTS WITH SKELETAL DYSPLASIAS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 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。 我们的一般假设是，与年龄和性别相似的普通人群相比，骨骼发育不良患者的骨密度可能会发生变化。 这项研究的目的是确定骨骼发育不良患者与年龄和性别相似的普通人群的骨密度是否存在差异。这些知识将使我们能够进一步描述这些疾病的自然历史，并识别那些有骨密度下降风险的患者，以便提供有效、及时的治疗。 这是一项试验性的横断面研究，因为没有描述这类患者骨密度的初步数据。对结果的分析还将使我们能够设计进一步的研究方案，着眼于构成骨骼发育不良的不同疾病中的骨密度问题，并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. Our general hypothesis is that patients with skeletal dysplasias may have alterations in bone mineral density when compared to the general population of similar age and gender. The purpose of this study is to determine whether patients with skeletal dysplasias have differences in bone mineral density from the general population of similar age and gender. This knowledge will enable us to further delineate the natural histories of these conditions, and to identify those patients at risk for decreased bone mineral density so that effective, timely treatment may be offered. This is proposed as a pilot, cross sectional study since there are no preliminary data describing bone densities in this population of patients. Analysis of the results will also allow us to design further research protocols looking at the issue of bone density in the different diseases that comprise skeletal dysplasias, and 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 management of these patients.