• 文章类型: Journal Article
    目的:评估加拿大三级中心羟氯喹(HCQ)诱导的视网膜病变筛查的质量,我们专注于电子健康记录中的风险因素文档,根据2016年AAO指南。
    方法:我们根据2016年至2019年在蒙特利尔大学中心医院(CHUM)接受HCQ诱发视网膜病变筛查的患者的图表回顾,进行了一项回顾性质量评估研究。我们评估了HCQ诱导的视网膜病变的四个关键风险因素:日剂量,使用期限,肾脏疾病,和他莫昔芬的使用,使用三层分级系统(理想,adequate,不足)用于文件评估。进行了帕累托和根本原因分析,以确定潜在的改进解决方案。
    结果:文档质量在我们的研究中有所不同:每日剂量为33%理想,31%合适,36%不合适。使用文档的持续时间是理想的75%,2%足够,24%不够。肾脏疾病记录只有6%是理想的,62%的人足够,32%的图表没有任何既往病史。在女性排行榜中,他莫昔芬的使用根本没有记录在案,65%的人充分记录药物清单。帕累托分析表明,改善肾脏疾病和他莫昔芬记录可以减少64%的非理想记录,和提高每日剂量文件可以减少高达90%。
    结论:关键危险因素的准确记录对于HCQ诱导的视网膜病变筛查至关重要,影响考试开始和频率。我们的研究发现了医院筛查过程中的潜在改进,转诊医生,和眼科医生的水平。实施整合途径可以增强患者体验和筛查效果。
    OBJECTIVE: To assess the quality of hydroxychloroquine (HCQ)-induced retinopathy screening at a Canadian tertiary center, we concentrate on risk factor documentation within the electronic health record, in accordance with the 2016 AAO guidelines.
    METHODS: We performed a retrospective quality assessment study based on chart review of patients who underwent screening for HCQ-induced retinopathy at the Centre Hospitalier de l\'Université de Montréal (CHUM) from 2016 to 2019. We evaluated four key risk factors for HCQ-induced retinopathy: daily dose, duration of use, renal disease, and tamoxifen use, using a three-tier grading system (ideal, adequate, inadequate) for documentation assessment. Pareto and root cause analyses were conducted to identify potential improvement solutions.
    RESULTS: Documentation quality varied in our study: daily dosage was 33% ideal, 31% appropriate, and 36% inappropriate. Duration of use documentation was 75% ideal, 2% adequate, and 24% inadequate. Renal disease documentation was only 6% ideal, with 62% adequate and 32% of charts lacking any past medical history. Among women\'s charts, tamoxifen use wasn\'t documented at all, with 65% adequately documenting medication lists. Pareto analysis indicated that improving renal disease and tamoxifen documentation could reduce 64% of non-ideal records, and enhancing daily dose documentation could decrease this by up to 90%.
    CONCLUSIONS: Accurate documentation of key risk factors is critical for HCQ-induced retinopathy screening, impacting both exam initiation and frequency. Our study identifies potential improvements in the screening process at the hospital, referring physician, and ophthalmologist levels. Implementing integrated pathways could enhance patient experience and screening effectiveness.
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  • 文章类型: Journal Article
    背景:患有发育协调障碍(DCD)的儿童在儿童早期表现出运动发育和运动技能的偏差,其中协调运动技能的学习和执行低于其年龄预期的水平。早期发现DCD对于提供干预和支持的机会至关重要,然而,许多病例直到学龄期才被发现。这项研究描述的目的是确定保修,在蒂罗尔幼儿园进行流动性筛查的可行性和有效性,并评估其对提高受影响儿童的运动发展前景的潜在益处。
    方法:本研究采用两阶段横断面方法,随访6个月。初始阶段包括对所有参与的幼儿园儿童进行顽皮的行动筛查,其次是对那些表现出明显运动技能的人进行个人评估。运动技能将使用MobiScreen4-6和儿童运动评估电池2进行评估。在筛选之前,从幼儿园机构和当局获得知情同意,父母和孩子自己。向父母提供信息表和问卷,以评估他们的态度和孩子的资格。这项研究描述的目的是形成一个有代表性的幼儿园儿童样本,4-6岁,在蒂罗尔州。针对大约20-40名患有DCD的儿童进行随访,目标是包括650名儿童,假设发生率为3%-6%。对于后续行动,将形成匹配的对照组,并提供有关如何解决已识别的运动障碍的信息,包括治疗或运动,将被收集。定量数据将主要进行描述性分析,虽然幼儿园教师对实际实施的反馈将使用定性内容分析进行分析,根据Mayring。
    背景:该研究已获得科学伦理问题研究委员会(RCSEQ3369/24)的批准。调查结果将通过捐款传播,同行评审期刊,和会议。
    BACKGROUND: Children with developmental coordination disorder (DCD) show deviations in motor development and motor skills in early childhood where the learning and execution of coordinated motor skills are below the level expected for their age. Early detection of DCD is critical to provide an opportunity for intervention and support, yet many cases remain undetected until school age. The study described aims to determine the warranty, feasibility and validity of a mobility screening in Tyrolean kindergartens and evaluate its potential benefit to enhance the motor development prospects of affected children.
    METHODS: This research employs a two-stage cross-sectional approach with 6 months of follow-up assessments. The initial stage involves a playful mobility screening for all participating kindergarten children, followed by individual assessments for those displaying conspicuous motor skills. Motor skills will be evaluated using MobiScreen 4-6 and the Movement Assessment Battery for Children-2. Prior to the screening, informed consent is obtained from kindergarten bodies and authorities, parents and the children themselves. Parents are provided with information sheets and questionnaires to assess their attitudes and their child\'s eligibility. The study described aims to form a representative sample of kindergarten children, aged 4-6, in Tyrol. To target approximately 20-40 children with DCD for follow-up, the goal is to include 650 children, assuming an incidence of 3%-6%. For the follow-up, matching control groups will be formed and information about how identified motor deficits were addressed, including therapies or sports, will be gathered. Quantitative data will mainly be analysed descriptively, while feedback from kindergarten teachers regarding the practical implementation will be analysed using qualitative content analyses, according to Mayring.
    BACKGROUND: The study has been approved by the Research Committee for Scientific Ethical Questions (RCSEQ 3369/24). Findings will be disseminated through contributions, peer-reviewed journals, and conferences.
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  • 文章类型: Journal Article
    背景:大多数日本医学院可能继续依靠同伴体检(PPE)作为向学生传授体检技能的工具。然而,日本医学生对PPEs的态度尚未确定。因此,我们评估了日本医学院学生对PPE的态度,作为制定适合日本文化背景的PPE政策的准备。
    方法:我们进行了一项混合方法研究,采用解释性顺序方法,使用定性数据解释定量结果.对日本大学的医学生和初级居民进行了调查和访谈。共有63名医学生和50名初级居民回答了问卷。我们采访了16位参与者,以达到理论饱和,并调查了医学生对PPE的态度以及采访数据中出现的主题,提供定量结果的详细描述。
    结果:女性参与者比男性参与者显着更有可能报告不同程度的抵抗在PPE期间成为模型患者(男性:59.7%,女性:87%,p<0.001)。承担脱衣服患者角色的大多数参与者是男性。与会者期望在与保证拒绝成为模范患者的自由和保密措施有关的问题上有所改善。大约22%的参与者报告说,他们在PPE期间目睹了其他学生面前的偶然发现(包括正常范围内的变化)。
    结论:研究结果表明,医学生在PPE期间志愿作为模范患者时期望高度的自主性和保密性。因此,制定适合日本文化的PPE政策可能会有效地建立以学生为中心的PPE环境。
    BACKGROUND: Most Japanese medical schools likely continue to rely on peer physical examination (PPE) as a tool to for teaching physical examination skills to students. However, the attitudes of medical students in Japan toward PPEs have not be identified. Therefore, we evaluated students\' attitudes toward PPE in a Japanese medical school as a preparation for developing a PPE policy tailored to the context of Japanese culture.
    METHODS: We conducted a mixed-methods study with an explanatory sequential approach, in which qualitative data were used to interpret the quantitative findings. Surveys and interviews were conducted with medical students and junior residents at a Japanese university. A total of 63 medical students and 50 junior residents responded to the questionnaire. We interviewed 16 participants to reach theoretical saturation and investigated the attitudes of medical students toward PPE and the themes emerging from the interview data, providing detailed descriptions of the quantitative findings.
    RESULTS: Female participants were significantly more likely than male participants to report varying degrees of resistance to being a model patient during PPE (male: 59.7%, female: 87%, p < 0.001). Most of the participants who took on the role of patients that involved undressing were males. The participants expected improvements in issues related to the guarantee of freedom to refuse to be a model patient and measures to protect confidentiality. Approximately 22% of the participants reported that they witnessed incidental findings (including variations within the normal range) in front of other students during PPE.
    CONCLUSIONS: The findings imply that medical students expect high levels of autonomy and confidentiality when volunteering as model patients during PPE. Thus, developing a PPE policy suitable for Japanese culture may be effective in establishing a student-centered PPE environment.
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  • 文章类型: Journal Article
    背景:英国全科手术收集有关患者种族的数据,通常在注册。这些数据随后被用于临床护理和研究,例如,当嵌入风险建模工具中时。已发布的种族类别标准列表存在,但是对前线练习中发生的事情知之甚少。
    目的:记录Oxfordshire全科医生手术的在线患者登记表上提供的种族类别的变化。
    方法:在牛津郡的所有67例GP手术中,56人拥有在线注册表格,其中包括种族报告的选项列表。作者将这些与2001年,2011年和2021年英国人口普查种族分类进行了比较。
    结果:在不同的实践中发现了显著的异质性。种族组的选择数量从5个到84个,中位数为14个,而人口普查名单为19个(2021年),18(2011),和16个(2001年)团体。在56种做法中,六人使用了2001年的人口普查清单,五个人使用了2011年的人口普查清单,没有人使用2021年的人口普查清单。总的来说,45种做法使用了不同于任何人口普查清单的清单,包括通常不被认为是种族的类别,例如\“穆斯林\”或\“佛教\”,这意味着个人可能会认同多种选择。
    结论:包括患者种族在内的高质量研究和医疗保健数据对于理解,文档,并减轻健康不平等。然而,这可能会受到错误的种族分类和缺乏标准化的影响。这项试点/探索性研究表明,初级卫生保健中的种族记录可能既不标准化也没有意义。
    BACKGROUND: UK general practice surgeries collect data regarding patient ethnicities, typically at registration. These data are subsequently used in both clinical care and research, for example, when embedded in risk modelling tools. The published standard list of ethnic categories exists, but little is known about what happens in frontline practice.
    OBJECTIVE: To document the variation in ethnic categories available on online patient registration forms across GP surgeries in Oxfordshire.
    METHODS: Of all 67 GP surgeries in Oxfordshire, 56 had online registration forms that included an option list for ethnicity reporting. The authors compared these against the 2001, 2011, and 2021 UK census ethnic group categorisation.
    RESULTS: Significant heterogeneity was identified across practices. The number of options for ethnicity group ranged from 5 to 84, with a median of 14, compared to the census lists that comprise of 19 (2021), 18 (2011), and 16 (2001) groups. Of the 56 practices, six used the 2001 census list, five used the 2011 census list, and none used the 2021 census list. Overall, 45 practices used lists that differed from any census list, including categories not typically considered to be ethnic, for example \'Muslim\' or \'Buddhist\', meaning individuals could potentially identify with multiple options.
    CONCLUSIONS: High-quality research and healthcare data that includes patient ethnicity is essential to understand, document, and mitigate against health inequalities. However, this may be compromised by poorly conceived ethnic categorisations and a lack of standardisation. This pilot/exploratory study suggests that the ethnicity records in primary health care may be neither standardised nor meaningful.
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  • 文章类型: Journal Article
    背景:围产期焦虑(PNA)发生在整个产前或分娩后1年,患病率为21%。
    目的:调查初级保健记录是否可用于识别患PNA风险较高的女性。
    方法:使用定量和定性方法的混合方法方法。定量数据分析使用临床实践研究数据链和IQVIA医学研究数据来识别PNA的风险因素。访谈探讨了PNA妇女的生活经验,了解PNA的诱发因素和被告知风险的可接受性;以及初级保健专业人员和志愿,社区,和社会企业从业人员关于风险沟通。面试是在网上进行的,经同意以数字方式记录,转录,并在分析之前匿名化。对数据进行了主题分析。患者和临床咨询小组告知研究的每个阶段。
    结果:女性反映了被确定为PNA风险较高的积极和消极影响,缺乏了解如何使用初级保健记录,以及谁能接触到它们。所有访谈参与者都提出了不会在初级保健记录中编码的诱发因素。定量分析表明,在女性的初级保健记录中可以识别出PNA的一些诱发因素。初步分析表明,PNA与婴儿健康和医疗保健使用之间存在关联。
    结论:虽然确定PNA的高风险可能是可以接受的,一些可能导致PNA的因素未在初级护理记录中进行编码.需要识别和管理PNA以改善婴儿健康。
    BACKGROUND: Perinatal anxiety (PNA) occurs throughout the antenatal period or up to 1 year after childbirth, with a prevalence of 21%.
    OBJECTIVE: To investigate if primary care records could be used to identify women at \'higher risk\' of PNA.
    METHODS: Mixed-methods approach using quantitative and qualitative methods. Quantitative data analysis used Clinical Practice Research Datalink and IQVIA Medical Research Data to identify risk factors for PNA. Interviews explored the lived experiences of women with PNA about predisposing factors for PNA and acceptability of being informed of risk; and perspectives of primary healthcare professionals and Voluntary, Community, and Social Enterprise practitioners about risk communication. Interviews were conducted online, digitally recorded with consent, transcribed, and anonymised prior to analysis. Data were thematically analysed. Patient and clinical advisory groups informed each stage of the research.
    RESULTS: Women reflected on both positive and negative impacts of being identified at higher risk of PNA, a lack of understanding of how primary care records are used, and who has access to them. All interview participants suggested predisposing factors that would not be coded in primary care records. Quantitative analysis demonstrated that some predisposing factors for PNA can be identified in a woman\'s primary care records. Initial analysis suggests associations between PNA and infant health and healthcare use.
    CONCLUSIONS: While identification of higher risk of PNA may be acceptable, some factors that may contribute to PNA are not coded in primary care records. Identifying and managing PNA is needed to improve infant health.
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  • 文章类型: Journal Article
    背景:推荐提供者经常因撰写低质量的推荐而受到批评。这项研究以临床转诊指南和表格为特征,以了解数据顾问提供商需要哪些。这些数据然后被用来共同设计一个基于证据的,高质量的推荐表格。
    方法:本研究采用了观察性和质量改进方法。审查并总结了加拿大转诊指南。对150个随机选择的安大略省转诊表的转诊数据字段进行了分类和计数。然后转诊提供者使用转诊指南摘要和转诊数据,顾问提供者和管理员共同设计推荐表格。
    结果:转诊指南建议在转诊中包括42种转诊数据。转诊数据分类为患者人口统计,提供者人口统计,转介的原因,临床信息和行政信息。推荐纳入每种类型转诊数据的转诊指南的百分比从8%到77%不等。安大略省推荐表格要求提供264种不同类型的推荐数据。与纸质转诊表相比,数字转诊表要求更多的转诊数据类型(55.0±10.6vs30.5±8.1;95%CIp<0.01)。在两个会议上创建了共同设计的推荐表格,每个会议有29名和21名参与者。
    结论:转诊指南缺乏一致性和特异性,这使得撰写高质量的推荐具有挑战性。数字推荐表格往往比纸质推荐表格要求更多的推荐数据,这给转介和顾问提供者带来了行政负担。我们与转介提供者一起创建了第一个共同设计的转介表格,顾问提供商和管理员。我们建议临床采用此表格,以提高转诊质量并最大程度地减少行政负担。
    BACKGROUND: Referring providers are often critiqued for writing poor-quality referrals. This study characterised clinical referral guidelines and forms to understand which data consultant providers require. These data were then used to codesign an evidence-based, high-quality referral form.
    METHODS: This study used both observational and quality improvement approaches. Canadian referral guidelines were reviewed and summarised. Referral data fields from 150 randomly selected Ontario referral forms were categorised and counted. The referral guideline summary and referral data were then used by referring providers, consultant providers and administrators to codesign a referral form.
    RESULTS: Referral guidelines recommended 42 types of referral data be included in referrals. Referral data were categorised as patient demographics, provider demographics, reason for referral, clinical information and administrative information. The percentage of referral guidelines recommending inclusion of each type of referral data varied from 8% to 77%. Ontario referral forms requested 264 different types of referral data. Digital referral forms requested more referral data types than paper-based referral forms (55.0±10.6 vs 30.5±8.1; 95% CI p<0.01). A codesigned referral form was created across two sessions with 29 and 21 participants in each.
    CONCLUSIONS: Referral guidelines lack consistency and specificity, which makes writing high-quality referrals challenging. Digital referral forms tend to request more referral data than paper-based referrals, which creates administrative burdens for referring and consultant providers. We created the first codesigned referral form with referring providers, consultant providers and administrators. We recommend clinical adoption of this form to improve referral quality and minimise administrative burdens.
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  • 文章类型: Journal Article
    最近的AUA良性前列腺增生(BPH)管理指南建议常规收集国际前列腺症状评分(IPSS)数据,但是要完全实施常规收集可能具有挑战性。我们调查了通过电子患者门户(EPP)分发IPSS对IPSS完成的影响及其对BPH管理的影响。
    我们进行了回顾性研究,在我们的学术医学中心接受BPH新患者就诊(NPV)的男性的纵向研究。从2019年9月到2022年11月,我们确定了接受BPHNPV的患者。在2021年1月之前,IPSS是通过纸质表格亲自在NPV收集的;之后,IPSS在NPV之前使用EPP分配。我们的主要结果是IPSS完成;次要结果是在6个月内订购新的BPH药物和BPH手术。
    我们确定了485例接受BPHNPV的患者。EPP的实施显着提高了IPSS问卷的完成度(36.5%vs56.9%,P<.0001)。在EPP实施之后,我们发现在NPV时订购的新BPH药物下降(10.4%vs4.7%,P=.02)。虽然在6个月内订购的BPH手术相似,与之前相比,EPP实施后的患者接受BPH手术的时间更短.
    我们的研究表明,IPSS的EPP分布提高了IPSS收集合规性,使我们的实践与AUA准则更接近。通过检测更严重的BPH,常规收集IPSS可能会影响临床实践。这减少了医疗BPH管理和确定BPH治疗的时间。需要进一步的工作来确认调查结果。
    UNASSIGNED: Recent AUA guidelines for the management of benign prostatic hyperplasia (BPH) recommend routine collection of the International Prostate Symptom Score (IPSS) data, but routine collection can be challenging to fully implement. We investigated the impact of distributing the IPSS by electronic patient portal (EPP) on IPSS completion and its impact on BPH management.
    UNASSIGNED: We performed a retrospective, longitudinal study of men undergoing a new patient visit (NPV) for BPH at our academic medical center. From September 2019 to November 2022, we identified patients undergoing an NPV for BPH. Prior to January 2021, the IPSS was collected in person at NPVs via paper forms; afterwards, the IPSS was distributed before the NPV using the EPP. Our primary outcome was IPSS completion; secondary outcomes were new BPH medications and BPH surgery ordered within 6 months.
    UNASSIGNED: We identified 485 patients who underwent an NPV for BPH. EPP implementation significantly increased IPSS questionnaire completion (36.5% vs 56.9%, P < .0001). Following EPP implementation, we found that new BPH medications ordered at time of NPV decreased (10.4% vs 4.7%, P = .02). Although BPH surgery ordered within 6 months was similar, patients following EPP implementation had shorter time to BPH surgery compared to prior.
    UNASSIGNED: Our study revealed that EPP distribution of the IPSS improves IPSS collection compliance, aligning our practice closer with AUA guidelines. Routine collection of the IPSS may impact clinical practice through the detection of more severe BPH, which reduces medical BPH management and time to definitive BPH therapy. Further work is needed to confirm findings.
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  • 文章类型: Journal Article
    目的:开发一种新技术来确定与单个风险点相对应的最佳回归单元数量,同时从基于逻辑回归的疾病预测模型创建风险评分系统。这个超参数的最佳值平衡了简单性和准确性,为患者风险分层提供小规模和高准确性的风险评分。
    方法:所提出的技术在所有潜在的超参数值上应用自适应线搜索。此外,集成了DeLong测试,以确保选定的值产生的准确性与最佳可实现的风险评分准确性没有显着差异。我们通过两个病例研究评估方法,预测糖尿病视网膜病变(DR)在6个月内和髋部骨折再入院(HFR)在30天内,涉及90400名糖尿病患者和18065名髋部骨折患者。
    结果:我们的分数与现有方法获得的分数没有显着差异,DR和HFR预测的AUROC达到0.803和0.645,分别。关于规模,我们的DR评分为0-53,HFR评分为0-15,而现有方法产生的分数经常跨越数百或数千。
    结论:根据评估,我们的风险评分为疾病提供了简单而准确的预测.此外,我们的新DR评分为DR的最新风险评分提供了一个有竞争力的替代方案,而我们的HFR病例研究显示了这种情况的第一个风险评分。
    结论:我们的技术为制作紧凑量表的精确风险评分提供了一个可概括的框架,解决医疗保健中对用户友好和有效的风险分层工具的需求。
    OBJECTIVE: Develop a novel technique to identify an optimal number of regression units corresponding to a single risk point, while creating risk scoring systems from logistic regression-based disease predictive models. The optimal value of this hyperparameter balances simplicity and accuracy, yielding risk scores of small scale and high accuracy for patient risk stratification.
    METHODS: The proposed technique applies an adapted line search across all potential hyperparameter values. Additionally, DeLong test is integrated to ensure the selected value produces an accuracy insignificantly different from the best achievable risk score accuracy. We assessed the approach through two case studies predicting diabetic retinopathy (DR) within six months and hip fracture readmissions (HFR) within 30 days, involving cohorts of 90 400 diabetic patients and 18 065 hip fracture patients.
    RESULTS: Our scores achieve accuracies insignificantly different from those obtained by existing approaches, reaching AUROCs of 0.803 and 0.645 for DR and HFR predictions, respectively. Regarding the scale, our scores ranged 0-53 for DR and 0-15 for HFR, while scores produced by existing methods frequently spanned hundreds or thousands.
    CONCLUSIONS: According to the assessment, our risk scores offer simple and accurate predictions for diseases. Furthermore, our new DR score provides a competitive alternative to state-of-the-art risk scores for DR, while our HFR case study presents the first risk score for this condition.
    CONCLUSIONS: Our technique offers a generalizable framework for crafting precise risk scores of compact scales, addressing the demand for user-friendly and effective risk stratification tool in healthcare.
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  • 文章类型: Letter
    暂无摘要。
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  • 文章类型: Journal Article
    背景:诊断错误会带来重大的健康风险,并导致患者死亡。随着电子健康记录的日益普及,机器学习模型为提高诊断质量提供了一条有前途的途径。目前的研究主要集中在一组有限的疾病和充足的训练数据,忽略数据可用性有限的诊断方案。
    目的:本研究旨在开发一种基于信息检索(IR)的框架,该框架可容纳数据稀疏性,以促进更广泛的诊断决策支持。
    方法:我们介绍了一个基于IR的诊断决策支持框架,称为CliniqIR。它使用临床文本记录,统一的医学语言系统词库,和3300万份PubMed摘要,以独立于训练数据可用性对广泛的诊断进行分类。CliniqIR旨在与任何IR框架兼容。因此,我们使用密集和稀疏检索方法实现了它。我们将CliniqIR的性能与预训练的临床变压器模型的性能进行了比较,例如在监督和零射设置下来自变压器的临床双向编码器表示(ClinicalBERT)。随后,我们结合了监督微调ClinicalBERT和CliniqIR的优势,构建了一个集成框架,提供最先进的诊断预测.
    结果:在没有任何训练数据的复杂诊断数据集(DC3)上,CliniqIR模型在其前3个预测中返回了正确的诊断。关于重症监护医学信息集市III数据集,CliniqIR模型在预测<5个训练样本的诊断方面超过ClinicalBERT,平均倒数排名差异为0.10。在零射击环境中,模型没有接受疾病特异性训练,CliniqIR仍然优于预训练的变压器模型,其平均倒数排名至少为0.10。此外,在大多数情况下,我们的集成框架超越了其各个组件的性能,证明其增强了做出精确诊断预测的能力。
    结论:我们的实验强调了IR在利用非结构化知识资源识别不常遇到的诊断方面的重要性。此外,我们的集成框架受益于结合监督和基于检索的模型的互补优势来诊断广泛的疾病.
    BACKGROUND: Diagnostic errors pose significant health risks and contribute to patient mortality. With the growing accessibility of electronic health records, machine learning models offer a promising avenue for enhancing diagnosis quality. Current research has primarily focused on a limited set of diseases with ample training data, neglecting diagnostic scenarios with limited data availability.
    OBJECTIVE: This study aims to develop an information retrieval (IR)-based framework that accommodates data sparsity to facilitate broader diagnostic decision support.
    METHODS: We introduced an IR-based diagnostic decision support framework called CliniqIR. It uses clinical text records, the Unified Medical Language System Metathesaurus, and 33 million PubMed abstracts to classify a broad spectrum of diagnoses independent of training data availability. CliniqIR is designed to be compatible with any IR framework. Therefore, we implemented it using both dense and sparse retrieval approaches. We compared CliniqIR\'s performance to that of pretrained clinical transformer models such as Clinical Bidirectional Encoder Representations from Transformers (ClinicalBERT) in supervised and zero-shot settings. Subsequently, we combined the strength of supervised fine-tuned ClinicalBERT and CliniqIR to build an ensemble framework that delivers state-of-the-art diagnostic predictions.
    RESULTS: On a complex diagnosis data set (DC3) without any training data, CliniqIR models returned the correct diagnosis within their top 3 predictions. On the Medical Information Mart for Intensive Care III data set, CliniqIR models surpassed ClinicalBERT in predicting diagnoses with <5 training samples by an average difference in mean reciprocal rank of 0.10. In a zero-shot setting where models received no disease-specific training, CliniqIR still outperformed the pretrained transformer models with a greater mean reciprocal rank of at least 0.10. Furthermore, in most conditions, our ensemble framework surpassed the performance of its individual components, demonstrating its enhanced ability to make precise diagnostic predictions.
    CONCLUSIONS: Our experiments highlight the importance of IR in leveraging unstructured knowledge resources to identify infrequently encountered diagnoses. In addition, our ensemble framework benefits from combining the complementary strengths of the supervised and retrieval-based models to diagnose a broad spectrum of diseases.
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