Journal of the American Medical Informatics Association : JAMIA. 2024 Feb 16;31(3):692-704. doi: 10.1093/jamia/ocad244 Q14.62025

Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population

利用知识工程、自然语言处理和机器学习对大型电子健康记录人群进行芳香族l-氨基酸脱羧酶缺乏症的自动患者预筛查翻译改进

Aaron M Cohen¹, Jolie Kaner¹, Ryan Miller², Jeffrey W Kopesky², William Hersh¹

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¹ Department of Medical Informatics and Clinical Epidemiology, School of Medicine, Oregon Health & Science University, Portland, OR 97239, United States.

² PTC Therapeutics, South Plainfield, NJ 07080, United States.

DOI: 10.1093/jamia/ocad244 PMID: 38134953

摘要 Ai翻译

Objectives: Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa decarboxylase gene. Deficiency of the AADC enzyme results in combined severe reductions in monoamine neurotransmitters: dopamine, serotonin, epinephrine, and norepinephrine. This l... ...点击完成人机验证后继续浏览

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期刊名：Journal of the american medical informatics association

缩写：J AM MED INFORM ASSN

ISSN：1067-5027

e-ISSN：1527-974X

IF/分区：4.6/Q1

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Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population

利用知识工程、自然语言处理和机器学习对大型电子健康记录人群进行芳香族l-氨基酸脱羧酶缺乏症的自动患者预筛查翻译改进

Predictive model for a second hip fracture occurrence using natural language processing and machine learning on electronic health records

使用自然语言处理和机器学习对电子健康记录预测第二次股骨骨折的发生模型

Prediction and evaluation of combination pharmacotherapy using natural language processing, machine learning and patient electronic health records

基于自然语言处理、机器学习和患者电子健康记录的联合药物治疗预测与评估

Protocol for Designing a Model to Predict the Likelihood of Psychosis From Electronic Health Records Using Natural Language Processing and Machine Learning

基于自然语言处理和机器学习的电子健康记录精神病患病预测模型设计规范

Natural language processing and machine learning of electronic health records for prediction of first-time suicide attempts

基于电子健康档案的自然语言处理和机器学习预测首次自杀尝试事件

Machine learning outcome prediction using stress perfusion cardiac magnetic resonance reports and natural language processing of electronic health records

使用压力灌注心脏磁共振报告和电子健康记录的自然语言处理进行机器学习结果预测

Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation

基于电子健康记录进行中风识别的自然语言处理和机器学习算法的研发与验证

Correction: Extracting Family History Information From Electronic Health Records: Natural Language Processing Analysis

关于从电子健康记录中提取家族史信息的自然语言处理分析的更正通知

Identifying Information Gaps in Electronic Health Records by Using Natural Language Processing: Gynecologic Surgery History Identification

利用自然语言处理识别电子健康档案中的信息缺口：妇科手术历史识别

Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population

利用知识工程、自然语言处理和机器学习对大型电子健康记录人群进行芳香族l-氨基酸脱羧酶缺乏症的自动患者预筛查 翻译改进

Predictive model for a second hip fracture occurrence using natural language processing and machine learning on electronic health records

使用自然语言处理和机器学习对电子健康记录预测第二次股骨骨折的发生模型

Prediction and evaluation of combination pharmacotherapy using natural language processing, machine learning and patient electronic health records

基于自然语言处理、机器学习和患者电子健康记录的联合药物治疗预测与评估

Protocol for Designing a Model to Predict the Likelihood of Psychosis From Electronic Health Records Using Natural Language Processing and Machine Learning

基于自然语言处理和机器学习的电子健康记录精神病患病预测模型设计规范

Natural language processing and machine learning of electronic health records for prediction of first-time suicide attempts

基于电子健康档案的自然语言处理和机器学习预测首次自杀尝试事件

Machine learning outcome prediction using stress perfusion cardiac magnetic resonance reports and natural language processing of electronic health records

使用压力灌注心脏磁共振报告和电子健康记录的自然语言处理进行机器学习结果预测

Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation

基于电子健康记录进行中风识别的自然语言处理和机器学习算法的研发与验证

Correction: Extracting Family History Information From Electronic Health Records: Natural Language Processing Analysis

关于从电子健康记录中提取家族史信息的自然语言处理分析的更正通知

Identifying Information Gaps in Electronic Health Records by Using Natural Language Processing: Gynecologic Surgery History Identification

利用自然语言处理识别电子健康档案中的信息缺口：妇科手术历史识别

利用知识工程、自然语言处理和机器学习对大型电子健康记录人群进行芳香族l-氨基酸脱羧酶缺乏症的自动患者预筛查翻译改进