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一个或多个在人类免疫力中重要的基因的遗传异常而引起的。尽管这些疾病都存在于所有人群中，但在已发表的研究中缺乏少数群体。我们建议这是诊断不足的结果。延迟诊断会导致发病率增加和全球医疗费用膨胀；在许多情况下，延迟导致死亡率增加。此外，如果有生物恐怖活动，这些未诊断的受试者无法得到充分的保护。该正在进行的演示和教育计划（R18）的假设是，这些患者可以在多种族城市医院人口中识别出这些患者，使用新设计的计算机评分计划，使用国际疾病代码用于与先天性免疫缺陷有关的疾病进行测量医院出院诊断。在5年内，测量住院患者的诊断，所有患者中有0.4％的患者患有两种或多种明显的疾病，建议免疫缺陷，而没有其他导致这些疾病的诊断。这些患者比没有这些代码的患者更年轻，病情更年轻，更频繁，更可能拥有医疗补助（p = .001）。该小组被录取了1到30次，平均为5次入院。最常见的诊断是肺炎，败血症，未能繁殖，脓胸和支气管扩张和骨髓炎。在235例疾病更多的患者中，有48名受试者中有17例患有原发性免疫缺陷（35％），而另外4例患者患有次要缺陷； 13/17是西班牙裔。我们将继续测试通过计算机筛查发现的患者，以验证是否存在免疫缺陷。第二个目标是针对大量且越来越多的医生推荐的患者（自2000年以来250名受试者）验证计算机评分方法，并具有证明的原发性免疫缺陷，并定义了更好地识别个体缺陷的疾病代码簇。第三个目标是创建一个可以更广泛地应用的“便携式”计算机筛选版本，例如在纽约市的城市医院，医疗数据库和其他测试人群中。最终的目标是继续实施我们的社区提供者宣传和教育计划（针对免疫缺陷和评估的研究，大步进行），并参与关联的医疗机构，这些设施将最大程度地从与先天性免疫缺陷有关的教育服务，诊断和治疗资源中受益最大。