Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
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DOI：
10.1038/gim.2016.57
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发表时间：
2016-12
期刊：
影响因子：
--
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中科院分区：
文献类型：
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先天性代谢差错信息系统（IBEM- is）收集先天性代谢差错的临床病史资料。iem - is可供全国的代谢诊所使用，旨在：1)影响受影响个人的临床管理，2)提供信息以支持公共卫生决策。21个州的30个中心正在招募有新生儿筛查条件的人，收集登记时和所有后续访问时的诊断和治疗信息。使用电子捕获表格收集前瞻性数据，允许汇总有关受IBEM影响的个人结果的信息。在iem - is中登记了1893名受试者，收集了540000个数据点。RUSP中46个条件中有41个条件的受试者已开始收集数据；4个条件下有100名受试者被招募。>1访视受试者（n=898）的中位随访时间为1.5年（四分位数间距= 2.2年）。病情危急的受试者更有可能收到紧急信件和病假计划。只有病情危急的儿童才会死亡。大规模的前瞻性数据收集可以为罕见疾病的个体完成，允许加强临床管理决策和支持公共卫生新生儿筛查计划的决策。
The Inborn Errors of Metabolism Information System (IBEM-IS) collects data on clinical history of inborn errors of metabolism (IBEM). The IBEM-IS is accessible to metabolic clinics nationwide and seeks: 1) to impact clinical management for affected individuals and 2) to provide information to support public health decision-making. Thirty centers in 21 states are enrolling persons with newborn-screened conditions, collecting information on diagnosis and treatment at the time of enrollment and all subsequent visits. Prospective data are collected using electronic capture forms allowing aggregation of information regarding outcomes for individuals affected with IBEM. 1893 subjects have been enrolled in the IBEM-IS and >540,000 individual data points have been collected. Data collection has been initiated for subjects with 41 of 46 conditions on the RUSP; 4 conditions have >100 subjects enrolled. Median follow-up time for subjects with >1 visit (n=898) is 1.5 years (interquartile range = 2.2 years). Subjects with critical conditions are more likely to have emergency letters and sick-day plans. Mortality was exclusive to children with critical conditions. Large-scale prospective data collection can be accomplished for individuals with rare conditions, permitting enhanced decision-making for clinical management and supporting decision-making in public health newborn screening programs.
影响因子：
8.8
作者：
Berry, Susan A.;Jurek, Anne M.;Bentler, Kristi
通讯作者：
Bentler, Kristi
影响因子：
4.5
作者：
Harris PA;Taylor R;Thielke R;Payne J;Gonzalez N;Conde JG
通讯作者：
Conde JG
影响因子：
2.9
作者：
Khalid, J. M.;Oerton, J.;Dezateux, C.
通讯作者：
Dezateux, C.