Diagnosis最新文献_第6页

Rheum for earlier recognition: patient reported time to diagnosis of juvenile idiopathic arthritis. 早期识别大黄：患者报告的时间诊断为幼年特发性关节炎。

IF 2

Diagnosis Pub Date : 2026-05-05 DOI: 10.1515/dx-2025-0156

Anna C O Costello, Pamela F Weiss, Rui Xiao, Irit R Rasooly

{"title":"Rheum for earlier recognition: patient reported time to diagnosis of juvenile idiopathic arthritis.","authors":"Anna C O Costello, Pamela F Weiss, Rui Xiao, Irit R Rasooly","doi":"10.1515/dx-2025-0156","DOIUrl":"https://doi.org/10.1515/dx-2025-0156","url":null,"abstract":"Objectives: Early diagnosis of juvenile idiopathic arthritis (JIA) improves long-term outcomes. The study aims to assess patient reported time to diagnosis with JIA and signs of disease-related damage at the time of diagnosis.Methods: Retrospective cohort study of patients with an incident JIA diagnosis at an academic center over a 2-year period. Patient reported time to diagnosis and signs of disease-related damage were extracted from the electronic medical record. Factors associated with time to diagnosis were evaluated with regression modeling.Results: Of the 237 children diagnosed during the study period, the median patient reported time to diagnosis was 19 weeks (IQR: 8-40, range: 1-311). Time to diagnosis was >1 year in 23.5 % of patients, and >2 years in 11.7 %. In the linear regression model, older age was associated with longer time to diagnosis. Many patients (40.9 %) had at least one sign of damage. Damage was most common in younger children and children with oligoarticular disease.Conclusions: It is common for patients with JIA to have a prolonged time to diagnosis, and many have damage at diagnosis. A regression model fails to explain most of the variance in the time to diagnosis, suggesting there is much to learn about the drivers of diagnostic delay in JIA.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Human-AI collaboration in clinical reasoning: a UK replication and interaction analysis. 临床推理中的人类-人工智能协作：英国复制和交互分析。

IF 2

Diagnosis Pub Date : 2026-04-29 DOI: 10.1515/dx-2025-0176

Justin Healy, Jonathan Kossoff, Matthew Lee, Christian Hasford

{"title":"Human-AI collaboration in clinical reasoning: a UK replication and interaction analysis.","authors":"Justin Healy, Jonathan Kossoff, Matthew Lee, Christian Hasford","doi":"10.1515/dx-2025-0176","DOIUrl":"https://doi.org/10.1515/dx-2025-0176","url":null,"abstract":"Objectives: A paper from Goh et al. found that a large language model (LLM) working alone outperformed American clinicians assisted by the same LLM in diagnostic reasoning tests (Goh E, Gallo R, Hom J, Strong E, Weng J, Kerman H, et al. Large language model influence on diagnostic reasoning: a randomized clinical trial. JAMA Netw Open 2024;7:e2440969). We aimed to replicate this experiment in a UK setting and explore how interactions with the LLM might explain the observed gaps in performance.Methods: This was a within-subjects study of UK physicians. 22 participants answered structured questions on four clinical vignettes. For 2 cases physicians had access to an LLM via a custom-built web-application. Results were analysed using a mixed-effects model accounting for case difficulty and the variability of clinicians at baseline. Qualitative analysis involved coding of participant-LLM interaction logs and evaluating the rates of LLM use per question.Results: Physicians with LLM assistance scored significantly lower than the LLM alone (mean difference 21.3 percentage points, p<0.001). Access to the LLM was associated with improved physician performance compared to using conventional resources (74.3 vs. 65.7 %, p=0.001). There was significant heterogeneity in the degree of LLM-assisted improvement (SD 12.8 %). Qualitative analysis revealed that only 30 % of case questions were directly posed to the LLM, which suggests that under-utilisation of the LLM contributed to the observed performance gap.Conclusions: While access to an LLM can improve diagnostic accuracy, realising the full potential of human-AI collaboration may require a focus on training clinicians to integrate these tools into their cognitive workflows and on designing systems that make these integrations the default rather than an optional extra.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patterns of diagnostic errors using hierarchical cluster analysis: a single-center, cross-sectional study in general internal medicine. 使用层次聚类分析的诊断错误模式：普通内科的单中心横断面研究。

IF 1.9

Diagnosis Pub Date : 2026-04-27 eCollection Date: 2026-05-01 DOI: 10.1515/dx-2025-0190

Yuya Suzuki, Toshinori Nishizawa, Hiroki Ozawa, Yukinori Harada, Takashi Watari, Taro Shimizu, Madoka Sakurai, Kuniyoshi Hayashi, Yasuhiro Osugi, Gautam A Deshpande, Hiroko Arioka

{"title":"Patterns of diagnostic errors using hierarchical cluster analysis: a single-center, cross-sectional study in general internal medicine.","authors":"Yuya Suzuki, Toshinori Nishizawa, Hiroki Ozawa, Yukinori Harada, Takashi Watari, Taro Shimizu, Madoka Sakurai, Kuniyoshi Hayashi, Yasuhiro Osugi, Gautam A Deshpande, Hiroko Arioka","doi":"10.1515/dx-2025-0190","DOIUrl":"10.1515/dx-2025-0190","url":null,"abstract":"Objectives: Diagnostic errors are caused by disease complexity, variable settings in which care is provided, and multiple cognitive and system-level factors. However, whether outpatient diagnostic errors aggregate into specific failure modes that align with the clinical context remains unclear. Therefore, we aimed to explore these modes by examining the salient causes of unexpected readmission.Methods: We conducted a cross-sectional study to analyze unexpected readmissions among outpatients in general internal medicine who visited a clinic within 14 days of their initial visit. Two physicians independently assessed the diagnostic errors using the Revised Safer Dx Instrument and Diagnostic Error Evaluation and Research (DEER) taxonomy. We applied hierarchical clustering to the DEER taxonomy and conducted Fisher's exact tests to examine the associations with patient, physician, and system factors (presence of a referral letter, personal protective equipment [PPE] use, and late session).Results: Among the 146 patients, 50 (34.2 %) experienced diagnostic errors. Cluster analysis revealed two main categories of failure modes: (1) diagnostic prioritization and urgency appraisal failure, and (2) information acquisition and synthesis failure. The latter category was further divided into three clinically relevant subtypes: data-gathering failure, where PPE use was more common; information synthesis and interpretation failure, in which referral letters were more common; and undertesting and safety-netting failure.Conclusions: We identified that diagnostic errors were divided into four diagnostic failure modes that mapped to distinct DEER failure patterns and other factors. Linking these failure modes to measurable contextual variables may provide targets for diagnostic safety programs.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"224-237"},"PeriodicalIF":1.9,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Balancing benefit, harm, and uncertainty in diagnosis: determining the testing threshold in clinical practice. 平衡益处、危害和诊断的不确定性：确定临床实践中的检测阈值。

IF 2

Diagnosis Pub Date : 2026-04-24 DOI: 10.1515/dx-2025-0146

Erin H Yang, Zaven Sargsyan, Prathit A Kulkarni

{"title":"Balancing benefit, harm, and uncertainty in diagnosis: determining the testing threshold in clinical practice.","authors":"Erin H Yang, Zaven Sargsyan, Prathit A Kulkarni","doi":"10.1515/dx-2025-0146","DOIUrl":"https://doi.org/10.1515/dx-2025-0146","url":null,"abstract":"Decision making related to diagnostic testing is central to the daily practice of clinical medicine. The decision to obtain or defer certain diagnostic testing can be straightforward in some cases but more nuanced in others. Explicit use of testing thresholds can aid in the decision-making process. First described by Kassirer and colleagues, the testing threshold is that value of the pretest probability that the patient has a particular disease above which performing a given test is expected to provide net benefit. Here we propose a novel framework for analyzing the testing threshold, which includes both patient-specific variables and variables related to broader systems and contexts. Patient-related variables include the amplitude of the symptom or clinical abnormality, time course and pattern of evolution, and the patient's values and preferences. Broader systemic influences include the overall medical context and competing priorities, health-systems costs and logistical considerations, and public health concerns. The testing threshold can also vary depending on the inherent quality, cost, or precision of the diagnostic test itself. Testing thresholds are important for guiding clinicians in making decisions about pursuing specific testing to make diagnoses and deliver high-value care. Testing thresholds are inherently dynamic and should be calibrated as clinical circumstances evolve.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Problem representation in the age of artificial intelligence: the state of a dying art? 人工智能时代的问题表示：一门即将消亡的艺术的状态？

IF 2

Diagnosis Pub Date : 2026-04-24 DOI: 10.1515/dx-2025-0188

Casey N McQuade, Gurpreet Dhaliwal, Eliana Bonifacino, Andrew P J Olson, Laura Zwaan

引用次数: 0

Comparative proteomic analysis of cerebrospinal fluid and brain tissue using Orbitrap Astral and timsTOF Pro 2 platforms with data-independent acquisition. 使用Orbitrap Astral和timsTOF Pro 2平台进行脑脊液和脑组织的比较蛋白质组学分析，数据独立采集。

IF 2

Diagnosis Pub Date : 2026-04-24 DOI: 10.1515/dx-2025-0175

Miyo K Chatanaka, Maria Pascual Lorén, Cassandra J Wong, Antoninus Soosaipillai, Mercè Boada, Laura Molina-Porcel, Xavier Morató, Ioannis Prassas, Eleftherios P Diamandis

{"title":"Comparative proteomic analysis of cerebrospinal fluid and brain tissue using Orbitrap Astral and timsTOF Pro 2 platforms with data-independent acquisition.","authors":"Miyo K Chatanaka, Maria Pascual Lorén, Cassandra J Wong, Antoninus Soosaipillai, Mercè Boada, Laura Molina-Porcel, Xavier Morató, Ioannis Prassas, Eleftherios P Diamandis","doi":"10.1515/dx-2025-0175","DOIUrl":"https://doi.org/10.1515/dx-2025-0175","url":null,"abstract":"Objectives: Cerebrospinal fluid (CSF) contains thousands of proteins, and some of them are useful biomarkers for brain diseases, including neurodegeneration. Our objective was to compare two state-of-the-art mass spectrometers in revealing non-Alzheimer's disease (AD) to AD CSF variability.Methods: We qualitatively compared Orbitrap Astral and timsTOF Pro 2. We analyzed CSF and brain tissue extracts from non-AD individuals and patients with AD without prior fractionation of the samples.Results: The Orbitrap Astral detected twice as many proteins as the timsTOF Pro 2. The combined CSF proteome included 2,317 proteins. The reproducibility of the analysis was 74-92 % with both machines. There were no significant sex differences in the number of CSF proteins detected, but there was an age-related increase. Fifty-two proteins were exclusively present in the CSF of non-AD but absent in AD patient samples. We compared our non-pathological CSF proteome data obtained by Orbitrap Astral with three previously published datasets. The combined CSF proteome was 5,861 unique proteins. Our study identified 558 proteins that were not found in any of the other studies.Conclusions: New mass spectrometers are significantly more sensitive and can be used to extend the proteome of biological fluids and tissues in the quest for new disease biomarkers.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

What shapes patient experience of diagnosis in the emergency department? Findings from a mixed-methods study. 是什么塑造了急诊科患者的诊断体验？一项混合方法研究的结果。

IF 1.9

Diagnosis Pub Date : 2026-04-23 eCollection Date: 2026-08-01 DOI: 10.1515/dx-2026-0012

Diane Kuhn, Vadim Dukhanin, Kelly T Gleason

{"title":"What shapes patient experience of diagnosis in the emergency department? Findings from a mixed-methods study.","authors":"Diane Kuhn, Vadim Dukhanin, Kelly T Gleason","doi":"10.1515/dx-2026-0012","DOIUrl":"10.1515/dx-2026-0012","url":null,"abstract":"Objectives: Patient experience is a key indicator of quality in emergency department (ED) care. Prior research has shown that patients report more positive experiences when diagnostic imaging is performed, yet the mechanisms underlying this association remain unclear. The Patient-Reported Measure of Diagnostic Excellence in the Emergency Department (PRIME-ED) was developed to better characterize patients' perceptions of diagnostic processes, accuracy, and communication. The objective of this work was to implement PRIME-ED in a Midwestern academic ED and evaluate patient-reported ratings and free-text comments regarding diagnosis and diagnostic experience.Methods: Adult patients (18 and older) visiting a single academic ED between October 2024 and July 2025 were surveyed using PRIME-ED. Responses were measured on a 5-point Likert scale across three domains (process, accuracy, and communication) and combined into a composite score. Qualitative comments were analyzed using an iterative, inductive coding approach and categorized by topic and overall sentiment.Results: A total of 205 patients completed the survey. Mean scores were similar across domains (process 4.1, accuracy 3.9, communication 4.0), with a composite score of 4.0. Of respondents, 143 (69.8 %) provided free-text comments. Six thematic categories emerged, most commonly communication and diagnosis. Overall sentiment was predominantly positive (42.7 %), followed by neutral (29.4 %) and negative (28.0 %). Negative comments frequently reflected frustration when diagnostic testing did not yield a clear explanation for symptoms or when patients desired additional testing. Positive comments often emphasized thorough diagnostic evaluations.Conclusions: Findings from this study suggest that diagnostic testing may serve as a proxy for thoroughness and attentiveness from the patient perspective.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"510-513"},"PeriodicalIF":1.9,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic uncertainty as a public health imperative: a call for R69 code adoption. 诊断不确定性作为公共卫生的当务之急：呼吁采用R69代码。

IF 1.9

Diagnosis Pub Date : 2026-04-23 eCollection Date: 2026-08-01 DOI: 10.1515/dx-2026-0049

Helen W Hernandez, Helene M Epstein, Mohamed Zahir Alimohamed, Helen Haskell, Alexios-Fotos Mentis, David A Pearce, Michael Kanter

引用次数: 0

Identification and analysis of the evidence gaps in the field of diagnostic errors research in Japan: a scoping review. 日本诊断错误研究领域证据缺口的识别和分析：范围审查。

IF 1.9

Diagnosis Pub Date : 2026-04-21 eCollection Date: 2026-05-01 DOI: 10.1515/dx-2026-0015

Kotaro Kunitomo, Yukinori Harada, Tomoharu Suzuki, Kosuke Ishizuka, Toshinori Nishizawa, Ren Kawamura, Taiju Miyagami, Taku Harada, Satoshi Watanuki, Taro Shimizu, Masaru Kurihara, Shunzo Koizumi

{"title":"Identification and analysis of the evidence gaps in the field of diagnostic errors research in Japan: a scoping review.","authors":"Kotaro Kunitomo, Yukinori Harada, Tomoharu Suzuki, Kosuke Ishizuka, Toshinori Nishizawa, Ren Kawamura, Taiju Miyagami, Taku Harada, Satoshi Watanuki, Taro Shimizu, Masaru Kurihara, Shunzo Koizumi","doi":"10.1515/dx-2026-0015","DOIUrl":"10.1515/dx-2026-0015","url":null,"abstract":"Objectives: This scoping review aimed to identify and map the existing evidence for the status of diagnostic errors in adult patients in Japan.Methods: This scoping review included studies investigating diagnostic errors in adult patients in Japan since 1999; we followed an established framework for conducting scoping reviews. Data were extracted from searches of the MEDLINE, Web of Science, and Ichushi-Web databases. No language restrictions were imposed. The review considered all study types as eligible, except case reports or case series. Study selection and data extraction were conducted by pairs of independent reviewers, with a third reviewer involved in resolving disagreements.Results: This review included 257 full-text articles. The first authors' most common department was orthopedics (n=50). The most common data resource was manual chart review (n=165). The most common disease category was neoplasms (n=44). The definitions or measurements of diagnostic errors were described in 241 articles. However, the definitions of diagnostic errors varied widely among studies, even those examining the same disease.Conclusions: The status and challenges of research on diagnostic errors in Japan were clarified. To date, few studies have comprehensively assessed the national landscape of diagnostic errors. Developing standardized, comparable metrics and establishing a unified framework for understanding diagnostic errors, for broad dissemination and implementation at a national scale, remain pressing priorities.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"216-223"},"PeriodicalIF":1.9,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Failure of the Galleri multi-cancer detection trial to meet its primary endpoint. Galleri多癌检测试验未能达到其主要终点。

IF 1.9

Diagnosis Pub Date : 2026-04-21 eCollection Date: 2026-08-01 DOI: 10.1515/dx-2026-0055

Eleftherios P Diamandis

{"title":"Failure of the Galleri multi-cancer detection trial to meet its primary endpoint.","authors":"Eleftherios P Diamandis","doi":"10.1515/dx-2026-0055","DOIUrl":"10.1515/dx-2026-0055","url":null,"abstract":"Cancer screening has been at the forefront of the war against cancer for decades. Yet professional organizations such as the U.S. Preventive Services Task Force (USPSTF) recommend cancer screening for only a handful of cancers (cervical, lung, colon, breast, prostate). Screening for other serious cancers (ovarian, pancreatic, etc.) is not recommended, at least for individuals with low/moderate risk. The discovery of circulating tumor DNA (ctDNA) as a non-invasive biomarker for diverse cancers prompted many companies to develop screening tests for one or more cancer types. Particularly, one test, known as \"the Galleri test\", marketed by Grail Inc., combined with standard of care, claims to be able to detect simultaneously 40-50 cancer types, thus potentially reducing costs. The literature on the clinical effectiveness of this test is currently controversial. Here, we comment on the results of a randomized trial that is currently ongoing in the United Kingdom, evaluating the ability of the test to meet its primary clinical endpoint. Analysis of these new data showed that the primary endpoint of the trial, aiming to reduce the incidence of stage III-IV cancer by at least 20 %, was missed. The trial is still ongoing.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"406-409"},"PeriodicalIF":1.9,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0