Targeting Primary Immune Deficiency in Patient Populations

针对患者群体的原发性免疫缺陷

基本信息

批准号：
8890060
负责人：
CHARLOTTE CUNNINGHAM-RUNDLES
金额：
$ 32.26万
依托单位：
ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
依托单位国家：
美国
项目类别：
财政年份：
2000
资助国家：
美国
起止时间：
2000-09-30 至 2016-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8890060
关键词：
Admission activity African American Age Algorithms Autoimmune Process Bacterial Infections Bronchiectasis Caring Clinic Clinical Clinical Data Code Communities Computational algorithm Computer Assisted Computer Systems Computerized Medical Record Computers Computing Methodologies Data Databases Defect Diagnosis Diagnostic Services Disease Early treatment Education Education and Outreach Empyema Enrollment Evaluation Evaluation Studies Excess Mortality Failure to Thrive Fingers Functional disorder Funding Genes Goals Hispanic Americans Hispanics Hospitals Human ICD-9 Immune Immunity Immunologic Deficiency Syndromes Incidence Individual Inflammatory Inpatients Insurance International International Classification of Disease Codes International Classification of Diseases Lead Location Malignant Neoplasms Medicaid Medical Medical Records Medical center Methods Molecular Abnormality Morbidity - disease rate Mycoses New York Organ Osteomyelitis Outpatients Patients Phenotype Pneumonia Population Population Heterogeneity Prevention Printing Provider Published Forms Publishing Recurrence Registries Research Resources Risk Scoring Method Sepsis Surveys System Techniques Testing Textbooks Time Urban Hospitals Virus Diseases base case finding clinical practice computer program congenital immunodeficiency cost demographics disease phenotype evidence base experience improved innovation medical complication minority subjects mortality patient population programs screening

项目摘要

DESCRIPTION (provided by applicant): Primary immunodeficiency diseases arise due to genetic abnormalities of one or more genes important in human immunity. While these diseases are present in all populations, there is a noticeable lack of minority subjects in published studies; we suggest this results from under-diagnosis. Delayed diagnosis leads to increased morbidity and inflated global medical costs; in many cases delay results in increased mortality. In addition, in case of bio-terrorist activity, these un-diagnosed subjects could not be given adequate protection. The hypothesis of this ongoing demonstration and education program (R18) is that these patients can be identified in a multi-racial urban hospital population, using a newly devised computer scoring program to surveying hospital discharge diagnoses using international disease codes for illnesses commonly associated with congenital immune deficiency. Surveying diagnoses of inpatients over 5 years, 0.4% of all patients have had two or more significant illnesses suggestive of immunodeficiency without other diagnoses leading to these conditions. These patients were significantly younger, sicker, more often Hispanic, and more likely to have Medicaid than patients without these codes (p=.001); this group was admitted between 1 and 30 times, an average of 5 admissions for each. The commonest diagnoses were pneumonia, sepsis, failure to thrive, empyema, and bronchiectasis and osteomyelitis. Of 48 tested subjects of the 235 patients with more illnesses, 17 have primary immune deficiency (35%) and 4 others have secondary defects; 13/17 are Hispanic. We will continue to test patients found by computer screening, to verify if immune deficiency is present. A second goal is to validate the computer scoring method against a large and growing number of doctor-referred patients (now 250 subjects since 2000) with proven primary immune deficiency and to define disease code clusters that better identify individual defects. A third goal is to create a "portable" version of computer screening that can be applied more widely, as for example in the city hospitals of NYC, medical data bases, and other test populations. A final goal is to continue to implement our program of community-based provider outreach and education (Study Targeting Recognition of Immune Deficiency and Evaluation, STRIDE) and to involve the affiliated medical facilities that will most benefit from the educational services, diagnostic and treatment resources pertinent to congenital immune defects.

描述（由申请人提供）：原发性免疫缺陷疾病是由于对人类免疫重要的一种或多种基因的遗传异常而引起的。虽然这些疾病存在于所有人群中，但已发表的研究中明显缺乏少数群体受试者；我们认为这是由于诊断不足造成的。延迟诊断导致发病率增加和全球医疗费用上涨；在许多情况下，延误会导致死亡率增加。此外，一旦发生生物恐怖活动，这些未确诊的受试者无法得到足够的保护。这项正在进行的示范和教育计划 (R18) 的假设是，可以使用新设计的计算机评分程序，使用通常与先天性相关疾病的国际疾病代码来调查出院诊断，从而在多种族的城市医院人群中识别出这些患者。免疫缺陷。对住院患者 5 年以上的诊断进行调查，0.4% 的患者患有两种或两种以上提示免疫缺陷的重大疾病，而没有其他诊断导致这些疾病。与没有这些代码的患者相比，这些患者明显更年轻、病情更严重、更多是西班牙裔，并且更有可能享受医疗补助 (p=.001)；该组被录取次数在 1 至 30 次之间，平均每组录取 5 次。最常见的诊断是肺炎、败血症、发育迟缓、脓胸、支气管扩张和骨髓炎。在235名患有更多疾病的患者的48名测试对象中，17名患有原发性免疫缺陷（35％），另外4名患有继发性缺陷； 13/17 是西班牙裔。我们将继续对通过计算机筛查发现的患者进行检测，以验证是否存在免疫缺陷。第二个目标是针对大量且不断增加的经医生转诊的已证实原发性免疫缺陷的患者（自 2000 年以来目前有 250 名受试者）验证计算机评分方法，并定义疾病代码簇以更好地识别个体缺陷。第三个目标是创建一个“便携式”版本的计算机筛查，可以更广泛地应用，例如在纽约市的医院、医疗数据库和其他测试人群中。最终目标是继续实施我们以社区为基础的提供者外展和教育计划（免疫缺陷识别和评估研究，STRIDE），并让附属医疗机构参与其中，这些机构将从教育服务、诊断和治疗资源中受益最多与先天性免疫缺陷有关。