BONE MINERAL DENSITY IN PATIENTS WITH SKELETAL DYSPLASIAS

骨骼发育不良患者的骨矿物质密度

• 批准号: 7950610
• 负责人: Brendan Lee
• 金额: $ 0.44万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950610
• 关键词: Affect; Age; Bone Density; Cartilage; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Cross-Sectional Studies; Data; Deposition; Disease; Dual-Energy X-Ray Absorptiometry; Funding; Gender; Gene Mutation; General Population; Goals; Grant; Growth; Growth and Development function; Institution; Intervention; Knowledge; Measurement; Minerals; Natural History; Patients; Pilot Projects; Prospective Studies; Protocols documentation; Research; Research Personnel; Resources; Risk; Scanning; Shapes; Skeleton; Source; United States National Institutes of Health; bone mass; bone strength; chondrodysplasia; density; design; patient population; skeletal dysplasia

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. SPECIFIC AIMS 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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 这项研究的总体目标是检查与一般年龄的一般人群相比，骨骼发育不良患者的骨矿物质密度是否改变。 骨骼发育不良是一组异质性疾病，其特征是骨骼的生长和发育异常。 其中包括与骨强度和完整性的主要改变以及影响软骨的软骨肿瘤的主要改变以及骨骼的形状和纵向生长有关。 这是作为试点研究提出的，因为没有初步数据描述了这一患者人群的骨密度。 这些受试者中骨骼密度的测量将使用双能X射线吸收仪（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，以建立基因突变与矿物沉积变化之间的相关性。 此外，该数据将为前瞻性研究提供基准，旨在确定不同干预措施对这些患者的管理的影响。 我们的总体假设是，与年龄和性别的一般人群相比，骨骼发育不良的患者可能会改变骨矿物质密度。 具体目标 这项研究的目的是确定骨骼发育不良患者的骨矿物质密度与一般年龄和性别的一般人群的差异。 这些知识将使我们能够进一步描述这些疾病的自然历史，并确定那些有降低骨矿物质密度的患者，以便可以提供有效的，及时的治疗。 由于没有初步数据描述该患者人群的骨密度，因此提出了作为试点的横断面研究。 对结果的分析还将使我们能够设计进一步的研究方案，以研究包括骨骼发育不良的不同疾病中的骨密度问题，并在基因突变与矿物质沉积中的变化之间建立相关性。 此外，该数据将为前瞻性研究提供基准，旨在确定不同干预措施对这些患者管理的影响。