RARE GENETIC DISORDERS OF THE AIRWAYS

罕见的气道遗传性疾病

• 批准号: 7716868
• 负责人: Michael R Knowles
• 金额: $ 0.86万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-02 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7716868
• 关键词: Classification; Clinical; Computer Retrieval of Information on Scientific Projects Database; Data; Diagnosis; Diagnostic; Disease; Evaluation; Foundations; Funding; Genes; Grant; Hereditary Disease; Institution; Nitric Oxide; Nose; Patients; Phytohemagglutinins; Prevalence; Registries; Research; Research Personnel; Resources; Sensitivity and Specificity; Severities; Source; United States National Institutes of Health; Variant; age related; disease-causing mutation

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. Primary Objecttives: 1) Utilize a systematic approach to the diagnostic evaluation of patients in order to distinguish between PCD, variant CF, and PHA. 2) Identify disease-causing mutation in genes. 3) Define the sensitivity and specificity of nasal nitric oxide (NO) for the diagnosis of PCD. Secondary Objective: 1) Compare prevalence and age-related severity of key clinical features among these 3 disorders (PCD, variant CF, and PHA), as well as comparison to "classic" CF, using comparable data in the CF Foundation-supported CF Registry.

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。 主要对象方法：1）使用系统的方法来对患者进行诊断评估，以区分PCD，变体CF和PHA。 2）确定基因中引起疾病​​的突变。 3）定义用于诊断PCD的鼻氮（NO）的敏感性和特异性。 次要目标：1）比较这三种疾病（PCD，变体CF和PHA）之间关键临床特征的患病率和与年龄相关的严重程度，以及与“经典” CF的比较，使用CF基础支持的CF CF注册表中的可比数据进行比较。