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Family history fails to identify many children with severe hypercholesterolemia.家族病史无法识别出许多患有严重高胆固醇血症的儿童。
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High risk/high priority: familial hypercholesterolemia--a paradigm for molecular medicine.高风险/高优先级:家族性高胆固醇血症——分子医学的一个范例。
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Clinical determinants and treatment gaps in familial hypercholesterolemia: Data from a multi-ethnic regional health service.家族性高胆固醇血症的临床决定因素及治疗差距:来自多民族地区卫生服务机构的数据
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Identification of Patients with Family History of Pancreatic Cancer--Investigation of an NLP System Portability.胰腺癌家族史患者的识别——自然语言处理系统可移植性研究
Stud Health Technol Inform. 2015;216:604-8.
2
Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.家族性高胆固醇血症基金会 CAscade 筛查以提高对家族性高胆固醇血症的认识和检测的注册研究的基本原理和设计。
Am Heart J. 2014 Mar;167(3):342-349.e17. doi: 10.1016/j.ahj.2013.12.008. Epub 2013 Dec 21.
3
Harmonizing and consolidating the measurement of patient-reported information at health care institutions: a position statement of the Mayo Clinic.协调与整合医疗机构中患者报告信息的测量:梅奥诊所的立场声明。
Patient Relat Outcome Meas. 2014 Feb 10;5:7-15. doi: 10.2147/PROM.S55069. eCollection 2014.
4
Availability and quality of coronary heart disease family history in primary care medical records: implications for cardiovascular risk assessment.初级保健医疗记录中冠心病家族史的可获取性和质量:对心血管风险评估的影响。
PLoS One. 2014 Jan 9;9(1):e81998. doi: 10.1371/journal.pone.0081998. eCollection 2014.
5
An information extraction framework for cohort identification using electronic health records.一种使用电子健康记录进行队列识别的信息提取框架。
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6
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.家族性高胆固醇血症在普通人群中漏诊和治疗不足:预防冠心病的临床医生指南:欧洲动脉粥样硬化学会共识声明。
Eur Heart J. 2013 Dec;34(45):3478-90a. doi: 10.1093/eurheartj/eht273. Epub 2013 Aug 15.
7
New therapeutic principles in dyslipidaemia: focus on LDL and Lp(a) lowering drugs.血脂异常的新治疗原则:重点关注 LDL 和 Lp(a)降低药物。
Eur Heart J. 2013 Jun;34(24):1783-9. doi: 10.1093/eurheartj/eht088. Epub 2013 Mar 18.
8
Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes.家族性高胆固醇血症的早期诊断与治疗:改善患者预后。
Expert Rev Cardiovasc Ther. 2013 Mar;11(3):327-42. doi: 10.1586/erc.13.7.
9
Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH.低密度脂蛋白胆固醇识别家族性高胆固醇血症患者的鉴别能力:对26406名接受遗传性家族性高胆固醇血症检测的个体进行的横断面研究
Circ Cardiovasc Genet. 2012 Jun;5(3):354-9. doi: 10.1161/CIRCGENETICS.111.962456. Epub 2012 May 2.
10
The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data.梅奥诊所企业数据信托:生物医学数据的语义集成仓库。
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探索电子健康记录中家族病史文档在精准医学方面的差距——以家族性高胆固醇血症确诊为例的研究

Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment.

作者信息

Mehrabi Saeed, Wang Yanshan, Ihrke Donna, Liu Hongfang

机构信息

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; USA.

出版信息

AMIA Jt Summits Transl Sci Proc. 2016 Jul 20;2016:160-6. eCollection 2016.

PMID:27570664
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5001769/
Abstract

In the era of precision medicine, accurately identifying familial conditions is crucial for providing target treatment. However, it is challenging to identify familial conditions without detailed family history information. In this work, we studied the documentation of family history of premature cardiovascular disease and hypercholesterolemia. The information on patients' family history of stroke within the Patient-provided information (PPI) forms was compared with the information gathered by clinicians in clinical notes. The agreement between PPI and clinical notes on absence of family history information in PPI was substantially higher compared to presence of family history.

摘要

在精准医学时代,准确识别家族性疾病对于提供靶向治疗至关重要。然而,在没有详细家族史信息的情况下识别家族性疾病具有挑战性。在这项研究中,我们研究了早发性心血管疾病和高胆固醇血症家族史的记录情况。将患者提供信息(PPI)表格中有关中风家族史的信息与临床医生在临床记录中收集的信息进行了比较。与有家族史的情况相比,PPI中无家族史信息时PPI与临床记录之间的一致性要高得多。