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Diagnosis

Official Journal of the Society to Improve Diagnosis in Medicine (SIDM)

Editors-in-Chief: and

Language: English

First published: January 22, 2014

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Objective
Diagnosis focuses on how diagnosis can be advanced, how it is taught, and how and why it can fail, leading to diagnostic errors. The journal welcomes both fundamental and applied works, improvement initiatives, opinions, and debates to encourage new thinking on improving this critical aspect of healthcare quality.
Diagnosis is a hybrid online only journal that is published quarterly. All contributions submitted for publication in Diagnosis are subject to single-anonymized peer review by at least two experts in the field, selected and invited by the Editor-in-Chief and a dedicated Editorial Team. Diagnosis only publishes articles in English.
Diagnosis is the official journal of The Community Improving Diagnosis in Medicine (CIDM).

Topics
Factors that promote diagnostic quality and safety // Clinical reasoning // Diagnostic errors in medicine // The factors that contribute to diagnostic error: human factors, cognitive issues, and system-related breakdowns // Improving the value of diagnosis – eliminating waste and unnecessary testing // How culture and removing blame promote awareness of diagnostic errors // Training and education related to clinical reasoning and diagnostic skills // Advances in laboratory testing and imaging that improve diagnostic capability // Local, national and international initiatives to reduce diagnostic error

Article formats
Original Article // Review (systematic, narrative, and focused reviews) // Opinion Paper // Point/Counterpoint // Editorial // Short Communication (reports of early research results and pilot studies) // Letter to the Editor // Guidelines and Recommendations // Case Report – Learning from Tragedy (case reports of diagnostic error or dilemma discussed from a multi-stakeholder perspective) // Case Report – Lessons in Clinical Reasoning (Pitfalls, Myths, and Pearls) // Patient-Focused Articles (papers in this category should be written in lay language on a topic of interest to the patient stakeholder community)

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Evaluation of the analytical performance and usability of the VChemy S analyzer for decentralized multipanel testing

May 21, 2026

Nerea Varo, Maialen Palomino, Victoria Hauke, Carmen Mugueta, María Gil-Rodríguez, José Vicente García-Villalobos, María Blázquez-Rodríguez, Débora Martínez-Espartosa, Álvaro González

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Objectives: To evaluate the analytical performance, comparability, reference interval transference, and usability of the VChemy S point-of-care testing (POCT) analyzer for 16 biochemistry analytes using whole blood, serum and plasma. The study aimed to determine its suitability for decentralized testing and concordance with accredited central laboratory methods. Methods Adult outpatients were recruited to assess precision following CLSI EP15 and method comparison following CLSI EP09. Measurements were performed using VChemy S cartridges in whole blood, serum, and plasma and compared with results obtained in Roche Cobas ® Pro. Analytical performance was evaluated through Passing-Bablok regression, Bland-Altman analysis and comparison with EFLM minimum analytical quality specifications. Reference interval transference was examined according to CLSI EP28 using healthy volunteers. Usability was assessed through a 15-item Likert-scale questionnaire completed by users. Results All analytes showed acceptable repeatability and within-laboratory imprecision, meeting manufacturer specifications and EFLM analytical performance targets, except glucose, which exceeded its APS. Fourteen of the sixteen analytes demonstrated analytical comparability across all matrices, with mean relative differences within total allowable error. Chloride and alkaline phosphatase exhibited method-dependent biases, preventing interchangeability and reference interval transference for chloride. Reference intervals were verified for all remaining analytes. Usability evaluation demonstrated a high satisfaction score (above 90 %). Conclusions VChemy S provides analytically reliable results in whole blood, serum, and plasma for most routine biochemistry analytes, demonstrating strong alignment with central laboratory methods. Its portability, concordance with central laboratory methods, and user acceptance support its implementation in decentralized clinical settings, enabling faster decision-making and reduced preanalytical complexity.
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Albumin decline corroborates physiological prothrombin time prolongation in the elderly

May 20, 2026

Fabio Del Ben, Giuseppe Lippi

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Cognitive mechanisms underlying anchoring bias in diagnosis: a randomized controlled experiment

May 14, 2026

Sílvia Mamede, Henk G. Schmidt, Francisco Carlos Specian Junior, LigiaCayres Ribeiro, Marco Antonio de Carvalho Filho, Bruno Augusto Goulart Campos, Dario Cecilio Fernandes

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Objectives Anchoring bias occurs when physicians fail to revise an incorrect diagnosis triggered by salient distracting features (SDFs) despite contradictory evidence. The cognitive mechanisms underlying anchoring bias are unclear. We examined differences in processing of biasing (SDFs) and critical diagnostic information (discriminating features, DFs), when physicians give an SDF-related-diagnosis or an accurate diagnosis. Methods Randomized, crossover experiment with medical residents in Brazil. Each participant diagnosed six clinical vignettes while eye movements were tracked and subsequently recalled each vignette’s clinical findings. Each vignette had three versions: without SDFs, with SDFs at the beginning, with SDFs at the end. Each participant diagnosed two vignettes in each version in counterbalanced manner. Results Fixations on DFs did not significantly differ between SDF-related-diagnoses and accurate diagnoses nor with the position of SDFs. Fixations on SDFs did not significantly differ with diagnostic accuracy. However, SDFs at the end of the vignette received fewer fixations than when at the beginning. Regardless of the SDFs position, physicians recalled more DFs and fewer SDFs when they gave an accurate diagnosis than an SDF-related-diagnosis (respectively, DFs: 0.47; 95 % CI, 0.40–0.53 vs. 0.20; 95 % CI, 0.06–0.33; SDFs: 0.16; 95 % CI, 0.08–0.24 vs. 0.37; 95 % CI, 0.24–0.50). Conclusions DFs and SDFs attracted physicians’ attention similarly extensively, but the recall suggests different cognitive processes were taking place. Overcoming anchoring bias apparently required engaging in inhibiting the SDFs while corroborating the diagnostic value of DFs. Clinical teaching should strengthen knowledge of DFs. Digital diagnostic support could possibly be optimized by directing physicians’ attention to DFs during diagnosis.
Open Access
Stability of whole blood samples at different temperatures: a systematic review

May 12, 2026

Rie Harboe Nygaard, Josefine Freyberg Justesen, Ida Marie Nørum Wigh, Mads Nybo, Eline Sandvig Andersen

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Blood samples collected outside the hospitals are primarily transported as whole blood. During this transportation, blood sample integrity is highly dependent on conditions such as ambient temperature and mode of transportation, and these conditions are not always sufficiently controlled. Thus, samples may be exposed to time and temperature combinations outside the typically studied and recommended conditions. For laboratories to make recommendations regarding transportation and handle samples that exceed these recommendations correctly, an overview of analyte stability outside the recommended storage conditions is warranted. The objective of this systematic review was to investigate and summarize studies on the effects of temperature and storage time on stability of analytes commonly requested by general practitioners in Denmark. A systematic search of Embase and PubMed was performed on in July 2024 identifying 4,006 potential sources. 60 original studies were included in the review. Twenty-eight out of 32 investigated analytes were stable at 20–23 °C for up to 8 h and many analytes were stable for 8 h at temperatures above and/or below 20–23 °C. Results for stability of lactate dehydrogenase and potassium were conflicting. No data were found for methylmalonic acid, total thyroxine, and total triiodothyronine. In conclusion, this systematic review provides comprehensive data for clinical laboratories to use when evaluating criteria for transportation of whole blood samples. Most analytes were stable after prolonged transportation even after failure to maintain room temperature during transportation; however, attention should be paid to lactate dehydrogenase and potassium, where data were conflicting even under typically recommended conditions.
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Rheum for earlier recognition: patient reported time to diagnosis of juvenile idiopathic arthritis

May 5, 2026

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

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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.
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Multicenter reference limits of hs-cTnI and NT-proBNP in a Chinese cohort

May 5, 2026

Yuxin Xu, Qianjin Li, Huabin Xie, Li Hou, Poshi Xu, Huijun Cui, Xiaobo Chen, Xiaoyu Zhang, Ziyuan Peng, Houqing Zhou, Lixin Wang

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Objectives This study aimed to validate the analytical performance of high-sensitivity cardiac troponin I (hs-cTnI) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) assays, and to establish age- and sex-specific reference intervals (RIs) using a large multicenter Chinese cohort. Methods hs-cTnI and NT-proBNP were measured on a fully automated chemiluminescence platform (Maglumi X8, Snibe, China). Analytical performance was validated following Clinical and Laboratory Standards Institute guidelines. Sex- and age-specific RIs for hs-cTnI (n=2,323) and NT-proBNP (n=2,333) were determined nonparametrically from IFCC-compliant cohorts across six Chinese provinces. Results Analytical validation confirmed high sensitivity, specificity, satisfactory linearity, and strong interference resistance of hs-cTnI and NT-proBNP. hs-cTnI demonstrated 3.19 % total imprecision near 99th percentile URLs and >99.5 % detectable rates (>LoD) in healthy individuals, meeting third-generation hs-cTn criteria. RIs were established stratified by age and sex. In plasma, RIs of hs-cTnI were 11.97 ng/L for males and 11.61 ng/L for females, while 97.5th percentile URLs of NT-proBNP were 145.00 ng/L overall, 113.63 ng/L for males, and 160.75 ng/L for females. Elevated hs-cTnI levels were observed in residents of Ningxia and in women with central obesity. Conclusions The Snibe hs-cTnI assay fulfills IFCC high-sensitivity criteria. Age- and sex-specific RIs of hs-cTnI and NT-proBNP were established from a large multicenter Chinese cohort, confirming their essential role in accurate cardiovascular risk stratification.
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Human–AI collaboration in clinical reasoning: a UK replication and interaction analysis

April 29, 2026

Justin Healy, Jonathan Kossoff, Matthew Lee, Christian Hasford

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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.
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Patterns of diagnostic errors using hierarchical cluster analysis: a single-center, cross-sectional study in general internal medicine

April 27, 2026

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

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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.
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Balancing benefit, harm, and uncertainty in diagnosis: determining the testing threshold in clinical practice

April 24, 2026

Erin H. Yang, Zaven Sargsyan, Prathit A. Kulkarni

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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.
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Problem representation in the age of artificial intelligence: the state of a dying art?

April 24, 2026

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

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Since its introduction into clinical reasoning education, the concept of the problem representation (PR) – a clinician’s evolving mental model of a patient’s illness – has helped frame how we teach reasoning to trainees. Despite PR’s popularity and promise as an educational tool, its use has also prompted persistent questions about terminology, teaching methods, and its role in developing diagnostic expertise. The recent emergence of generative artificial intelligence (GAI) capable of rapidly synthesizing and summarizing clinical has raised new concerns: If GAI can perform PR, what clinical reasoning skills remain essential for learners to master? In this perspective, we explore the history, current state of the art, and projected future of PR in a world with widespread GAI use. We argue that problem representation remains a critical cognitive process for trainees to master on their path toward expertise, even as generative AI may change or improve how it is taught.
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Comparative proteomic analysis of cerebrospinal fluid and brain tissue using Orbitrap Astral and timsTOF Pro 2 platforms with data-independent acquisition

April 24, 2026

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

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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.
Publicly Available
Diagnostic uncertainty as a public health imperative: a call for R69 code adoption

April 23, 2026

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

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What shapes patient experience of diagnosis in the emergency department? Findings from a mixed-methods study

April 23, 2026

Diane Kuhn, Vadim Dukhanin, Kelly T. Gleason

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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.
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Failure of the Galleri multi-cancer detection trial to meet its primary endpoint

April 21, 2026

Eleftherios P. Diamandis

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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.
Open Access
Identification and analysis of the evidence gaps in the field of diagnostic errors research in Japan: a scoping review

April 21, 2026

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

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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.
Publicly Available
The first Japanese conference on pediatric diagnostic excellence

April 20, 2026

Toshiki Nakamura, Reo Uegaki, Takahiro Suzuki, Takahiro Matsushima, Takateru Ihara, Kenichi Tetsuhara, Katsunori Kamimura, Takashi Watari, Taro Shimizu

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The Diagnostic Efficiency Ratio (DER): conceptual rationale, mathematical derivation, and hypothetical evaluation of a prevalence-sensitive benefit–harm metric

April 16, 2026

Matthew L. Rubinstein

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Objectives Traditional diagnostic accuracy metrics – sensitivity, specificity, predictive values, likelihood ratios, and global indices such as Youden’s J and the diagnostic odds ratio – describe important statistical properties of diagnostic tests but do not express benefit–harm balance in a single, prevalence-sensitive measure. The Diagnostic Efficiency Ratio (DER) is introduced as a composite metric designed to quantify diagnostic discriminative efficiency. Methods DER is defined as the ratio of the number needed to misdiagnose (NNM) to the number needed to diagnose (NND), where NND=1/( Sn + Sp − 1) and NNM=1/[(1 − Sp ) + Pr × ( Sp − Sn )]. Closed-form derivation was performed analytically and verified using independent algebraic tools. Hypothetical scenarios spanning plausible ranges of sensitivity, specificity, and prevalence were constructed to illustrate DER behavior, and an empirical illustration using published neonatal sepsis biomarker studies was conducted. Results Across hypothetical scenarios, DER demonstrated mathematically coherent and clinically intuitive behavior. High DER values occurred only when sensitivity and specificity were jointly strong and balanced. DER declined as specificity decreased or prevalence increased, with small values indicating contexts in which misdiagnoses consume a larger share of testing effort. In the empirical neonatal sepsis examples, DER differentiated biomarkers and settings in a manner consistent with its structural formulation, highlighting context-dependent diagnostic efficiency. Conclusions DER provides a prevalence-sensitive, frequency-based representation of diagnostic benefit relative to harm, reframing diagnostic accuracy in efficiency-oriented terms by expressing how effectively testing effort is converted into discriminative gain beyond chance relative to misclassification burden. This conceptual and illustrative evaluation supports DER’s coherence and potential stewardship utility as a complement to traditional diagnostic accuracy metrics. Ultimately, the DER helps to recast diagnostic performance as an efficiency problem, aligning it with modern value-based healthcare and stewardship priorities.
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What is diagnosis in the age of artificial intelligence

April 16, 2026

Lakshmi Krishnan, Christine Cassel

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The integration of artificial intelligence into clinical practice demands fundamental reconsideration of how we conceptualize diagnosis. Clinical and popular discourse often frames diagnosis as a “virtuoso model” emphasizing individual physician expertise, which inadequately addresses the complexities of human-AI collaboration and overlooks work on its distributed and social dimensions. We propose a pluralistic framework moving beyond this paradigm toward a model better suited for AI integration. Drawing from medical and cultural history, sociological analysis, and cognitive science, we identify four key shifts necessary to reconceptualize diagnosis for the AI context: recognizing diagnosis as distributed cognition rather than simply individual virtuosity; embracing metacognitive awareness for human-AI collaboration; acknowledging patients as diagnostic co-creators rather than passive subjects; and understanding diagnosis as contextual and culturally situated. Successful AI integration requires moving beyond viewing AI as threat or efficiency tool toward reconceptualizing diagnosis as a collaborative, technologically-mediated activity where clinicians function as interpreters, patients as co-creators, and AI as specialized partners with transparent limitations. This framework demands new approaches to medical education and human-computer interaction research to realize AI’s potential while preserving essential human judgment.
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A new perspective: blending ecological psychology and Safety II to learn from diagnostic excellence

April 14, 2026

Jonathan G. Sawicki, Russell Leslie, Daniel Nystrom

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Objectives Traditional safety frameworks applied in isolation have been insufficient to address the problem of diagnostic error in healthcare. We created a novel blend of approaches – leveraging Safety II and ecological psychology – to investigate diagnostic good catch events where healthcare teams made timely and accurate diagnoses. Methods We performed a case series of qualitative interviews, grounded in ecological psychology, with individuals involved in diagnostic good catch events at our institution. From these interviews, we identified facilitators to the diagnostic process which were organized in a People Environments Tools and Technologies Scan. Results We conducted 3 semi-structured interviews with a total of 4 clinicians. We identified numerous strategies, activities and contextual features that contributed to an individual’s and team’s ability to make accurate and timely diagnoses. Examples included the use of a “trust but verify” practice when admitting new patients, a thorough physical exam enhanced by point of care ultrasound, and the utility of open spaces to encourage collaboration among providers. Conclusions A novel framework, coupling Safety II principles and ecological psychology, offers a complement to lessons learned from Safety I event reviews and provides opportunities to develop robust and pragmatic interventions to mitigate diagnostic error.
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Comparison of AI, diagnostic generator, and expert opinion in difficult neurologic diagnosis: real-world case study

April 13, 2026

Pasquale F. Finelli

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Objectives Comparative diagnosis of AI vs. diagnostic generator and expert opinion in complex neurologic cases is limited. We present the results of a comparative study of these three diagnostic methods. Methods A real-world study of two rare and challenging neurologic diseases was studied using 3 computer-assisted diagnostic programs, 2 AI (Chat-GPT4 and GLASS AI), diagnostic generator (NeurologicDx) and expert opinion. Results The correct diagnosis was suggested by diagnostic generator but not by expert opinion or either AI program. Conclusions Diagnostic generator outperformed AI and expert opinion supporting its use in difficult neurologic diagnosis.
Open Access
Examining atypical presentations associated with a higher risk of diagnostic errors using a new classification model

April 7, 2026

Yukinori Harada, Tetsu Sakamoto, Yuya Wada, Kosuke Ishizuka, Junko Kubosaki, Koya Akutagawa, Tomoharu Suzuki, Sho Isoda, Toshinori Nishizawa, Taiju Miyagami, Satoshi Watanuki, Kotaro Kunitomo, Takashi Watari, Taro Shimizu

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Objectives To apply a new classification model for clinical presentations and detect a new subtype of atypical presentations associated with a higher risk of diagnostic errors, using a dataset of diagnostic errors collected with disease-agnostic approaches. Methods We classified cases of diagnostic errors from a previous systematic review of case reports using a new classification model for clinical presentations. Based on a previous study, we defined four clinical presentation patterns as atypical presentations associated with a higher risk of diagnostic errors (atypical group). We described the characteristics of the atypical group, including codes from the Diagnostic Error Evaluation and Research (DEER) and Reliable Diagnosis Challenges (RDC) taxonomies. We compared them with those of the most typical presentation (typical group). Results We included 382 cases in this study. The atypical groups accounted for 36 (9.4 %). For the RDC taxonomy, the codes “Atypical presentations”, “Findings masking/mimicking another diagnosis”, “Equivocal results/interpretation”, and “Recognizing misdiagnosis occurrence” were assigned more frequently in the atypical group. There was no difference in the distribution of DEER taxonomy codes between the two groups. Conclusions We detected atypical presentations associated with a higher risk of diagnostic errors by using the new model. Cases with such atypical presentations had more specific diagnostic challenges than those with the most typical presentation. The new model facilitates future studies to identify and address the target to reduce diagnostic errors in patients with atypical presentations associated with a higher risk of diagnostic errors.
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Diagnostic investigations: harmless tests or booby traps?

April 7, 2026

Glyn Elwyn, Laura Zwaan, Désirée Hairwassers, Paul K.J. Han

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Introduction Most people view diagnostic tests as harmless means of obtaining additional information and resolving uncertainties, thereby enabling the treatment of medical problems. Although this is true in most cases, there are situations in which it is not. The aim of the article is to demonstrate how diagnostic tests entail potential harms and benefits, arising from the knowledge they yield and its consequences, which has psychological, moral, and existential dimensions. These harms justify consideration of a strategy we call intentional unknowing, an choice to decline the acquisition of diagnostic knowledge. We show when and how this strategy is appropriate and propose a conceptual model that categorizes tests by the extent to which they provide high or low knowledge benefit and high or low knowledge harm. Observations The need for shared decision-making is lowest when the potential benefits of diagnostic knowledge are low, and the potential harms are high. When the benefits and harms of diagnostic knowledge are both high, the need for shared decision-making is highest; the default position is collaborative deliberation. When the benefit of diagnostic knowledge is high and the harm is low, the need for shared decision-making depends on the test’s accuracy. The model also illustrates when patients might prefer “not to know”. Conclusions As diagnostic and prognostic capabilities expand, uncertainty also increases, with significant implications for the utility of diagnostic knowledge and, in some situations, for ensuring that patients are informed about the balance of harms and benefits and that their preferences are respected.
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Potential missed diagnostic opportunities after low dose CT screening for lung cancer: results from the National Lung Cancer Screening Trial

March 20, 2026

Ahmed Hassoon, Sarah Hussain, Panagis Galiatsatos, Harold Lehmann, Kathryn McDonald, Christine Berg, Otis Brawley

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Objectives Low-dose CT (LDCT) screening is critical for early lung cancer detection. We assessed diagnostic uncertainty following positive LDCTs in the National Lung Screening Trial (NLST). We defined this pathway as an “Potential missed diagnostic opportunity” for participants eventually diagnosed with lung cancer. Methods This is a secondary analysis of the NLST trial, examining potential missed diagnostic opportunity among screen-detected participants who were diagnosed with lung cancer in the LDCT arm. Potential missed diagnostic opportunity (PMDO) defined as no lung cancer diagnosis following a positive LDCT, which was then followed by a subsequent annual positive LDCT that did lead to lung cancer diagnosis. Results Of 1,089 lung cancers diagnosed in the LDCT arm, 58 % (630 individuals) were adherent screen-detected at risk for a PMDO (605 [55 %] using Lung-RADS). Overall, 37.3 % (235 of 630) experienced ≥1 PMDO (33.1 % using Lung-RADS). Among the 235 participants who experienced a PMDO , only 1.7 % (four individuals) received a diagnostic resection or biopsy, and 35.7 % (84 individuals) had little to no diagnostic procedures following their first positive LDCT. Once diagnosed, the group that experienced PMDO tended to have earlier stage lung cancer and longer survival rates compared to those without such events. Conclusions While LDCT is a vital screening tool, a substantial proportion of lung cancer patients experience a period of diagnostic uncertainty after an initial positive screen. This pathway highlights a critical area for process improvement. Understanding the clinical decision-making during these periods is essential to fully optimize the benefits of early detection.
Open Access
Cognitive biases and collapse of prioritization accuracy under incongruent clinical data: a mixed-methods study of nursing diagnostic reasoning

March 13, 2026

Alessandra Milani, Luisa Saiani, Sara Gandini, Eliana Misurelli, Silvana Lacapra, Claudia Cafiero, Sabrina Boselli, Maria Angela Massaro, Anna Sponton, Laura Zoppini, Ketti Mazzocco

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Objectives To characterize clinical reasoning in prioritization and test whether errors are linked to experience or are universal, by examining how information congruence and informativeness influence nurses’ prioritization and diagnostic reasoning, and by identifying cognitive mechanisms underlying systematic errors under clinical uncertainty. Methods A concurrent embedded mixed-methods study was conducted with 130 nurses from two university hospitals. Using a think-aloud protocol, participants reasoned through four experimentally controlled clinical scenarios in which information congruence (data aligned vs. misaligned with the most common diagnosis) and informativeness (amount of data) were manipulated. Prioritization accuracy (correct vs. incorrect priority) was the primary outcome. Qualitative analysis identified cognitive biases, which were entered into a logistic regression model to quantify their association with accuracy. Results Accuracy collapsed when nurses faced incongruent clinical data, falling from 49.3 % in congruent scenarios to 18.4 % in incongruent ones (31-point drop; 95 % CI 20–42 %; p<0.001). This decrement was independent of age, experience, educational level, and ward type. Qualitative analysis showed that most nurses (71.4 %) actively dismissed critical conflicting cues. Confirmation bias (OR=0.048, p=0.015) and information bias (OR=0.082, p=0.010), were strong significant predictors of incorrect prioritization. Conclusions Nursing prioritization errors are systematic cognitive failures rather than random mistakes or simple knowledge deficits. The core vulnerability appears to be metacognitive: an impaired ability to detect and resolve conflict between an activated mental model and new, incongruent information. Interventions to reduce diagnostic and prioritization errors should explicitly train cognitive and metacognitive skills for managing incongruence and flexibly updating clinical representations.
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Diagnostic errors in abdominal pain: a secondary analysis of case reports

March 12, 2026

Taku Harada, Yukinori Harada, Kotaro Kunitomo, Takashi Watari, Taro Shimizu

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Objectives Diagnostic errors remain common in abdominal pain, a frequent yet challenging presentation. We sought to compare diagnostic error profiles between abdominal and non-abdominal pain and to identify abdominal pain–specific, potentially modifiable targets in physical examination, diagnostic testing, and differential diagnosis. Methods We conducted a retrospective secondary analysis of a systematically coded database of diagnostic error case reports. Adult pain cases were categorized as abdominal or non-abdominal after excluding pediatric and non-pain cases. Errors were classified using the Diagnostic Error Evaluation and Research (DEER), Reliable Diagnosis Challenges (RDC), and Generic Diagnostic Pitfalls (GDP) taxonomies. Frequencies of codes and contributing factors were compared. Results Of 163 cases, 55 involved abdominal pain and 108 non-abdominal pain. The abdominal pain group had more RDC codes per case (3.1 ± 1.8 vs. 2.5 ± 1.7; p=0.032). Misinterpretation of physical findings and diagnostic tests, particularly imaging, was more common. Presentations with non-specific features or findings that masked/mimicked other conditions were also more frequent. Most physical examination errors (78 %) and imaging errors (82 %) reflected misinterpretation rather than underordering. Conclusions Diagnostic errors in abdominal pain often involve misinterpreting physical and imaging findings and difficulty distinguishing among diseases within the correct organ system. Strengthening bedside diagnostic skills, fostering structured comparison of same-organ differential diagnoses, and ensuring reliable radiology support may reduce these errors and enhance patient safety.
Open Access
Associative thinking as a lever for diagnostic creativity

March 10, 2026

Sho Isoda, Taro Shimizu, Masasi Hattori

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Creativity plays an important role in diagnostic reasoning, particularly in supporting calibration and insights. However, the cognitive mechanisms underlying creativity have not yet been clearly articulated in this context. This study focused on associative thinking, an essential component of creativity, and conducted a systematic examination in the context of diagnostic reasoning. To the best of our knowledge, this is the first such study. Specifically, this study explored how the four types of associative thinking–remote, chained, radial, and dissociative–contribute to the generation of diagnostic hypotheses by examining clinical cases. This article presents a theoretical reinterpretation, grounded in the cognitive perspectives of sophisticated reasoning processes routinely employed by expert clinicians. By illuminating the role of associative thinking in diagnostic hypothesis generation, this study provides a novel conceptual perspective that aims to enhance both creativity and diagnostic accuracy, ultimately contributing to improved quality of patient care.
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Tuberculosis-induced arthritis (Poncet’s disease): diagnostic challenges and a workflow for clinical decision-making

March 9, 2026

Rahma Isti Kusyadi, Lita Diah Rahmawati, Prastuti Asta Wulaningrum

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Introduction Poncet’s disease (PD) is a rare form of TB-associated reactive arthritis, presents a major diagnostic challenge due to its close resemblance to rheumatoid arthritis and tuberculous septic arthritis. A clear diagnostic workflow is essential to support clinical decision-making to prevent misdiagnosis and inappropriate immunosuppressive treatment. This review synthesizes current evidence on the diagnostic characteristics of PD and propose a structured diagnostic workflow to improve clinical decision-making and reduce misdiagnosis. Content A narrative review was conducted using major databases, focusing on publications between 2010 and 2025. Eligible studies included clinical descriptions, diagnostic criteria, differential diagnosis, and outcomes related to PD and TB-associated arthritis. PD is characterized by acute or subacute, non-erosive polyarthritis occurring concurrently with active TB at an extra-articular site. Laboratory tests typically reveal elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) but negative autoantibodies, although low-titer RF or anti-CCP may occur. Synovial fluid is inflammatory but sterile, and imaging reveals no erosive changes – features that help differentiate PD from tuberculous arthritis and rheumatoid arthritis. The most reliable diagnostic indicator is rapid and complete resolution of arthritis following anti-tuberculosis therapy (ATT). A diagnostic workflow integrating clinical screening, TB confirmation, exclusion of mimicking conditions, and therapeutic response assessment is proposed. Summary Poncet’s disease remains a diagnosis of exclusion that requires a high index of clinical suspicion. Distinct clinical, laboratory, and imaging features, combined with a favorable response to ATT, are central to establishing the diagnosis. Outlook Implementation of a standardized diagnostic workflow may minimize misdiagnosis, avoid unnecessary immunosuppression, and support timely initiation of ATT. Greater recognition of PD within diagnostic pathways is essential for improving outcomes.
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Stability of Bence Jones protein in refrigerated urine samples over five days: a preanalytical evaluation

March 9, 2026

Maria Rita Cozzi, Fabio Del Ben, Martina Amato, Romina Boschian, Claudio Buciol, Chiara Corso, Cinzia Crepaldi, Tamara Damian, Riccardo De Appollonia, Katya Gaspardo, Fabiana Giordari, Matteo Turetta, Francesco Volpi, Agostino Steffan

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Objectives This study investigates the short-term stability of Bence Jones protein (BJP) in refrigerated urine samples stored over a period of 5 days. The aim was to evaluate whether BJP concentrations remain consistent when urine specimens are refrigerated and analyzed over time. Methods Urine samples were collected from 20 plasma cell dyscrasia patients with BJP for a total of 30 independent time-series and 83 data-points. Measurements were performed at five time points: Day 0 (baseline), and Days 1 through 4. Percentage difference (PD%) from baseline was used to quantify temporal change. Results The median baseline BJP M-spike percentage was 54 % (range: 17–87 %), covering a wide range of total urinary protein (median 296 mg/L, range 64–3,094 mg/L). PD% ranged from −2 % on Day 3 to +7 % on Day 1, with no statistically significant trend over time. The derived instability equation, PD%=0.33 × time (days), yielded r= −0.03 and p=0.77, indicated negligible instability. Conclusions These findings demonstrate acceptable short-term stability of BJP in refrigerated urine over 5 days, supporting its use in routine laboratory workflows involving delayed analysis.
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Information structure in clinical reasoning

March 9, 2026

Taro Shimizu, Zhongqi Wang, Marie Shihara, Satoshi Yoshida

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Clinical reasoning in diagnosis is often described using dual-process theory (DPT), which distinguishes between intuitive and analytical modes of thinking. In contemporary clinical practice, however, differences in diagnostic performance are not always explained solely by cognitive mode. This paper examines how the structure of diagnostic information, specifically whether information is held in a more integrated or more modular form, is related to how dual process reasoning is expressed in practice. Information structure is considered within the situational context through which clinicians assemble, interpret, and use clinical data as cases unfold. Building on work in cognitive psychology, human factors, and systems design, the analysis describes how variations in information structure interact with intuitive and analytical processing during clinical work. This focus helps account for why clinicians may reason differently as a case evolves, how reframing information can alter the speed and flexibility of judgment, and how vulnerability to bias may vary across situations. Focusing on how information is structured underscores implications for safety and education by supporting reflection on reasoning approaches, alignment between task demands and cognitive processes, and adaptive shifts as clinical situations change.
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Impact of in vitro acidosis on leukocyte cell population data measured by automated hemocytometry

March 9, 2026

Debora Olioso, Nicole Nori, Nicola Baratto, Giuseppe Lippi

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Objectives Acidosis is a frequent and clinically significant abnormality in critically ill patients, known also to affect leukocyte metabolism, morphology, and immune function. Cell population data (CPD), generated by modern hematological analyzers, provide quantitative information on leukocyte size, complexity, and nucleic acid content, but their sensitivity to acidosis has not been fully characterized. Methods Thirty-five whole blood samples collected in K 2 EDTA, referred for routine hematological testing, were divided into paired aliquots and subjected to in vitro acidification with hydrochloric acid or an equivalent volume of saline, serving as control condition (hereafter referred to as “untreated”). Samples were analyzed at baseline and after 30 min on Sysmex XN-10. Results Acidification induced rapid and sustained reduction in pH, from a median value of 7.30 to 6.90. After 30 min of incubation, compared to the untreated aliquots, acidified samples displayed increased monocyte and lymphocyte size indices (MO-Z, LY-Z) and lymphocyte complexity (LY-X), along with reduced neutrophil complexity and fluorescence (NE-SSC, NE-SFL), reduced neutrophil size (NE-FSC), and decreased DNA/RNA-related fluorescence in monocytes and lymphocytes (MO-Y, LY-Y). LY-Y showed the highest accuracy (area under the curve [AUC=0.93]), followed by MO-Y (AUC=0.84) and LY-Z (AUC=0.82) for discriminating acidosis. Conclusions In vitro acidosis induces consistent and biologically plausible alterations in leukocyte CPD, reflecting changes in cell size, granularity, and nucleic acid content, mostly indicative of leukocyte dysfunction. These findings support the hypothesis that CPD could be used as sensitive markers of acid–base-related leukocyte dysregulation, with clinical significance in conditions characterized by severe acidosis.
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Pilot demonstration for physician compensation incentives to improve diagnostic specificity in clinical documentation

March 5, 2026

David S. Burstein, Nathaniel Schwartz, Abhiroop Ganguly, Michael A. Hanak, Laura J. Zimmermann, Ali Keshavarzian

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Objectives Omissions in clinical documentation hinder diagnosis by obscuring important information and delaying communication among clinicians. Additionally, carefully implemented incentives can improve health care processes such as clinical documentation. Therefore, we created a pilot using $20,000 in compensation incentives to improve free text documentation for six common outpatient diagnoses (cerebrovascular accidents, chronic kidney disease, congestive heart failure, deep vein thrombosis and pulmonary embolism, chronic obstructive pulmonary disease, and smoking) in an urban health system. Methods For each diagnosis, we asked clinicians to document 2–3 pre-specified clinically significant, evidence-based details that influence diagnosis or management. We compared baseline documentation (Aug 15th–Sep 25th, 2022) with an incentivized period (Sep 26th–Dec 16th, 2022) using an unadjusted signed rank test and an adjusted generalized linear mixed model. All 32 eligible physicians and advanced practice providers participated. Results Among 693 baseline and 1,494 intervention opportunities when a diagnosis was assessed, documentation that included all clinically significant details improved from mean 32.2 % (SD 20.7) to mean 47.1 % (SD 23.6; p=0.01) and in our adjusted analysis from 35.6 to 48.2 % (p<0.001). Seven participants’ documentation improved by ≥1.6 diagnoses per week. Conclusions In conclusion, compensation incentives improved free text documentation of clinically significant information to improve the diagnostic process.
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Clinical prediction models: from foundational concepts to practical application

March 2, 2026

Javier Arredondo Montero

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Objectives Clinical prediction requires formalizing uncertainty into a statistical model. However, persistent confusion between prediction and inference, and between traditional (stepwise) and modern (penalized) development strategies, leads to unstable, poorly calibrated, and overfit models. A structured statistical framework is essential. Methods This article is a structured, didactic tutorial that explains the core concepts of clinical prediction models. It covers the definition of a prediction model, the fundamental strategies for its construction, and the essential framework for its evaluation, illustrated through an applied example using real-world clinical data. Results The tutorial illustrates model development using the GUSTO-I dataset ( N = 40,830). Penalized methods (LASSO and Elastic Net) successfully identified clinical signals while eliminating engineered noise variables. The LASSO model (λ 1se ) achieved excellent discrimination (AUC 0.818; 95 % CI: 0.803–0.832) and overall accuracy (Brier score 0.058). Calibration analysis revealed a slope of 1.28 and intercept of 0.63, identifying conservative bias and systematic risk underestimation inherent to λ 1se selection. Decision curve analysis confirmed significant clinical utility across relevant probability thresholds. Conclusions This guide equips clinicians with a rigorous methodological framework for the critical appraisal and interpretation of modern clinical prediction models.
Open Access
What is a medical expert? A reply to Kapur (2024)

February 24, 2026

Remy M.J.P. Rikers

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What is a medical expert? Response to Letter by Remy Rickers

February 24, 2026

Narinder Kapur

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Cardiovascular medicine in 2026: emerging technologies as a lever to reduce gaps and inequalities

February 9, 2026

Damien Gruson, Tuğba Kemaloğlu Öz

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Open Access
Pilot investigation into the influence of racial implicit bias on physician clinical reasoning

January 26, 2026

Cristina M. Gonzalez, Maria L. Deno, Tavinder K. Ark, Miriam Helft, Denise M. Connor, Adina L. Kalet, Diana J. Burgess, Malika T. Samuel, Marla R. Fisher, Steven J. Durning

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Objectives Evidence for the impact of racial implicit bias and clinical reasoning remains conflicting. Our inability to characterize the relationship between racial implicit bias and clinical reasoning (CR) precludes development of comprehensive interventions seeking to address the impact of racial implicit bias on clinical encounters. To address this gap, we conducted a simulation-based investigation with clinical presentations with known health disparities, cognitive stressors common to clinical environments, and Black and White standardized patients (SPs). Methods We recruited 75 early-career generalist physicians from five academic medical centers in New York, NY, USA. Physicians engaged in a three-station simulation. The first was for level-setting, familiarizing physicians with the online platform. The second was a diagnostic dilemma – an atypical presentation of acute coronary syndrome (ACS). The third tested treatment decision-making in acute pain. Immediately afterward, physicians completed the Race Implicit Association Test (IAT) and Race Medical Cooperativeness (RMC) IAT measuring affective and cognitive implicit biases, respectively. Two investigators assessed CR accuracy by applying a scoring rubric to physicians’ post-encounter notes. Results Statistical analyses revealed no significant correlations between physicians’ Race-IAT scores and CR by SP race. However, for ACS, a moderate correlation was suggested between physicians’ RMC-IAT scores and CR accuracy when seeing Black (R=0.36, CI −0.04 to 0.6), but not White, SPs (R=0.1, CI −0.44 to 0.24). Conclusions This study expands our understanding of the complex impact of racial implicit bias on clinical encounters. Future, larger studies should explore affective and cognitive implicit biases’ effects on CR across varied clinical scenarios and contexts with diverse SPs.
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“My confidence in the diagnosis is low, but I am confident in what needs to happen for the patient”: a mixed-methods study exploring diagnostic confidence and its impact on physician well-being

January 26, 2026

Jennifer Sloane, Roni Matin, Umber Shahid, Ashley N.D. Meyer, Hardeep Singh, Laura Zwaan, Traber D. Giardina

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Objectives Uncertainty is inherent in diagnostic decision-making. While diagnostic uncertainty research continues to grow, research on diagnostic confidence remains underexplored. Research often uses simplified tools to measure confidence, overlooking the nuanced perspectives of physicians and leaving a limited understanding of the role confidence plays in the diagnostic process. We conducted a mixed-methods study to better understand diagnostic confidence, and ways confidence (or a lack thereof) impacts physicians’ well-being. Methods In this mixed-methods study, 20 semi-structured virtual interviews were conducted with practicing physicians across 16 hospitals. Participants reflected on cases where they felt “really” confident and “not-so-confident” in their final diagnoses. Confidence scales were included in the interviews to obtain quantitative measures of participants’ confidence in their final diagnoses and in their diagnostic processes for both cases discussed. Results Physicians conceptualize and report confidence differently for their final diagnoses compared to confidence in their diagnostic approaches. We found that physicians could maintain high levels of confidence in their diagnostic approaches, even in cases with considerable uncertainty in the final diagnoses. Additionally, our results showed that confidence in the diagnostic approach reflected more positively on physician well-being. Conclusions While physicians often feel uncertainty about their final diagnoses, they are better able to deal with this uncertainty if they are confident in the diagnostic approaches. Studying confidence in the diagnostic approach is key not only for obtaining a more complete understanding of the cognitive processes involved in diagnostic decision-making but also for improving physician well-being.
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Rationalisation of a thrombophilia panel using laboratory medicine Delphi-like consensus evaluation and secondary artificial intelligence-based simulation assessment

January 13, 2026

Bernhard Strasser, Sebastian Mustafa, Erich Wimmer, Josef Seier

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Objectives It is important to review laboratory test panels regularly and omit unnecessary tests. This avoids overdiagnosis and makes laboratory work more targeted. Artificial intelligence is increasingly being discussed as a possible aid in such decisions. The aim of the study was to revise an existing thrombophilia panel with the help of a modified Delphi consensus of laboratory physicians and to examine whether large language models (LLMs) can mimic such decision-making processes and serve as a support tool. Methods The study was conducted in two steps. First, six experts evaluated various thrombophilia parameters in three Delphi rounds, assessing technical reliability and clinical significance. Selected LLMs (Elicit, Consensus, and STORM) were then tested with questions. Their results were compared with the Delphi consensus. Agreement was calculated using percentage concordance and Cohen’s κ. Results PAI-1 genotyping, MTHFR genotyping, homocysteine and APC resistance were removed from the standard panel, and anti-annexin-V antibodies and anti-phosphatidylserine/prothrombin antibodies were completely eliminated. The reduced panel was incorporated into routine practice, with facultative parameters remaining available as second-line tests. Agreement between the LLMs and the experts was slight when using open prompts (κ ≈ 0.25), although, with specific questions, the agreement was higher (κ 0.50–0.52). However, the LLMs did not take into account analytical and technical aspects. Conclusions Thrombophilia panels should be reviewed regularly to avoid the application of unnecessary tests and ensure high diagnostic quality. The Delphi process is a suitable tool for this. LLMs can provide supporting information, but are currently no substitute for the experience and consensus of medical experts.
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Raised alpha fetoprotein in cirrhotic liver with colorectal liver metastasis mimicking hepatocellular carcinoma: case report and review of literature

January 13, 2026

Aboje Adugba, Dominic Obotu Ayegba, Mansour Al Moundhri, Kareem Al Rezk, Rawan AlMallah, Ramesh Babu Telugu, Abdallah Al Farai

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Objectives To highlight the diagnostic challenges posed by alpha-fetoprotein (AFP)–producing colorectal adenocarcinoma presenting with liver metastases in a cirrhotic background, which may closely mimic hepatocellular carcinoma (HCC). Case presentation A 58-year-old man with chronic hepatitis B and cirrhosis, previously treated for rectosigmoid adenocarcinoma, presented with progressive abdominal fullness and markedly elevated AFP (315 KIU/L). Imaging showed multiple arterially enhancing hepatic lesions with washout, highly suggestive of HCC in a cirrhotic liver. Given the patient’s history and risk factors, the initial diagnostic impression favored HCC. However, core biopsy of a liver lesion revealed poorly differentiated adenocarcinoma consistent with colorectal origin (CK20 positive, CK7 patchy positive, CDX2 negative). Surgical resection was contraindicated due to severe aortic stenosis and prior chemotherapy toxicity. The patient received palliative systemic therapy but developed hepatic decompensation and died of progressive disease. A literature review identified only a few reports of AFP-producing colorectal cancers, most presenting with advanced disease and poor outcomes, with cirrhotic background being exceptionally rare. Conclusions AFP-producing colorectal adenocarcinoma with liver metastases can masquerade as HCC, particularly in patients with underlying liver disease. This case underscores the need for histological confirmation of atypical hepatic lesions to avoid misdiagnosis. Awareness of this rare entity and careful clinical reasoning are crucial to guide appropriate management and highlight pitfalls in diagnostic practice.
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Spurious test results as a diagnostic clue – pseudohyponatremia revealing multiple myeloma

January 13, 2026

Francesca Pons-Vidal, Macarena Calvente de Rávena, María Ortiz-Espejo

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Objectives To describe a case of a pseudohyponatremia secondary to hyperproteinemia in multiple myeloma and to emphasize the importance of analytical verification and laboratory-clinical collaboration to prevent diagnostic errors. Case presentation A 55 year-old male presented with severe hyponatremia (119 mmol/L) but paradoxically elevated serum osmolarity, suggesting that the hyponatremia might represent a laboratory artifact. Repeat serum sodium measurement by direct potentiometry with ion-specific electrodes yielded a normal value of 137 mmol/L, confirming artifactual hyponatremia. Additional tests revealed marked hyperproteinemia due to an IgG-kappa monoclonal component, leading to the diagnosis of multiple myeloma. Conclusions This case highlights the importance of artifacts in laboratory measurement, in this case recognizing analytical interferences when discordant hyponatremia is found. Confirmatory testing by direct potentiometry ion-specific electrodes prevents misdiagnosis and inappropriate therapy. Early identification of pseudohyponatremia further emphasizes the crucial role of the laboratory in ensuring accurate interpretation and optimizing patient management.
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Visual heuristics and basal cell carcinoma: pitfalls and strategies for clinical vigilance

January 7, 2026

Helena M. Nammour, T. Austin Black, Mary E. Dyson, Maryam Niazi, Rashid M. Rashid

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Objectives To examine how visual heuristics contribute to the clinical misdiagnosis of basal cell carcinoma (BCC) and to identify common heuristic patterns that may lead to diagnostic error in dermatologic practice. Methods A review of published case reports and observational studies was conducted to identify instances in which BCC was misdiagnosed or mischaracterized prior to histopathologic confirmation. Articles were analyzed for recurring clinical features that influenced diagnostic reasoning. Heuristic patterns contributing to misdiagnosis were categorized thematically. Results Heuristics, or mental shortcuts used to streamline clinical decision-making, are widely used in dermatology due to their highly visual and pattern-based nature. While often efficient, they can introduce cognitive bias when lesions deviate from expected presentations. Analysis of misdiagnosed BCC cases revealed five key heuristic categories: pigmentation, lesion location, morphology or texture, patient age, and skin type. Misdiagnosis was most common in pigmented lesions, uncommon anatomical sites, and in patients with skin of color or younger age. Conclusions Visual heuristics play a central role in dermatologic diagnosis but may undermine accuracy when atypical features are present. Increased awareness of these diagnostic pitfalls, together with systematic dermoscopic evaluation and a low threshold for biopsy, can help reduce error and improve outcomes.
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Trends in diagnostic error research across Asia: a quantitative content analysis

January 7, 2026

Ren Kawamura, Taro Shimizu

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Objectives This study examined recent trends in diagnostic error research across Asia-Pacific region, with a focus on Japan, using quantitative content analysis. Methods A PubMed search identified diagnostic error-related publications from Asian countries, Australia, and New Zealand between January 2016 and July 2025. Three datasets (Asia-Pacific, Japan, Asia-Pacific excluding Japan) were created. Article titles were analyzed using KH Coder to generate co-occurrence networks and identify key research themes. Temporal trends were assessed using correspondence analysis with publication year as an external variable. Results A total of 815 articles were retrieved. Over 90 % originated from five high-gross domestic product (GDP) countries (China, Japan, Australia, India, and South Korea). Shared themes included diagnostic error, clinical characteristics, AI and machine learning, and study type. Japan was characterized by studies from general internal medicine and primary care, including malpractice claims and trainee education, whereas other regions emphasized cancer diagnostics, molecular and translational medicine, and AI system development. From 2023 onward, AI-related terms became increasingly prominent. Conclusions Diagnostic error research in the Asia-Pacific is highly concentrated and reflects differing healthcare contexts and resource disparities. Strengthening regional networks, joint funding mechanisms, and collaboration with initiatives may enhance diagnostic safety and equity across the region.
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Decision curve analysis explained

January 7, 2026

Javier Arredondo Montero

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Decision curve analysis (DCA) bridges the gap between statistical accuracy and clinical usefulness – a distinction frequently overlooked in diagnostic research. Using a simulated cohort representing a real-world diagnostic scenario, this tutorial demonstrates how predictors with similar ROC-based performance can yield markedly different net benefit profiles when evaluated through DCA. Three tools were compared: a strong predictor (composite clinical score), a moderate biomarker (leukocytes), and a weak marker with modest AUC but limited practical value (serum sodium). Whereas ROC curves portray discrimination alone, decision curves situate performance within real clinical trade-offs, making explicit when a model adds value beyond default strategies such as treating all or none. The tutorial provides a step-by-step framework for interpretation, clarifies frequent misconceptions (thresholds, prevalence effects, calibration), and illustrates how DCA incorporates the consequences of decisions rather than just their statistical accuracy. Rather than adding ‘just another metric’, DCA reframes evaluation around a practical question: does using this model improve decisions across clinically reasonable thresholds?
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Hijacked medical journals and the risk to scholarly integrity: a web analytics study of prevalence, traffic channels, and geographic origins of traffic

January 7, 2026

Edit Ilona Pallás, Mehdi Dadkhah, Lóránt Dénes Dávid

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Objectives The integrity of research and science is increasingly under threat from questionable journals. In particular, hijacked journals rapidly expand, propagating scam-based, non-peer-reviewed publications. While the academic literature offers discussions, developed methodologies, and block lists to combat these fraudulent journals, the most prevalent hijacked journals and their primary distribution channels remain ambiguous. Methods To bridge this knowledge gap, the current study utilized a list of 380 previously detected hijacked journals and the web analytics platform Semrush to identify the most visited hijacked journals and their primary channels for attracting web traffic. This research first analyzes hijacked journals across various fields and then focuses specifically on hijacked medical journals. Results Our findings demonstrate that over 50 % of previously detected hijacked journals are active, primarily attracting researchers via email, search engines, and artificial intelligence (AI) tools. Furthermore, the majority of visitors to these journal websites originate from India. The results for medical journals align with these overall trends. Conclusions Addressing the significant problem these questionable journals pose necessitates implementing legal action and technological solutions.
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Deliberate solitude for clinical reasoning

January 6, 2026

Eulho Jung, Feng-Chih Kuo, Steven J. Durning

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While modern medicine emphasizes teamwork, expert performance in clinical reasoning may require periods of deliberate solitude to refine intuition, enhance diagnostic and/or management accuracy, and mitigate potential cognitive biases. Evidence from cognitive psychology, philosophy, and education suggests that cognitive withdrawal supports deep learning and problem-solving, yet its role in clinical reasoning learning and performance remains underexplored. Medicine often prioritizes speed and real-time collaboration, potentially limiting opportunities for independent time for thought. This article explores whether deliberate solitude could support the development and performance of clinical reasoning. Clinicians might consider engaging in diagnostic rehearsal, independent synthesis, and/or cognitive withdrawal during these solitary moments, but the specific opportunities and benefits remain uncertain. By drawing from research in other disciplines, we consider how solitude might help physicians refine their clinical reasoning, which, in turn, could potentially reduce errors. While no specific course of action can yet be made, this conceptual perspective suggests potential directions for future inquiry.
Open Access
Diagnostic injustice. What is it, what are its sources, and what can we do about it?

November 18, 2025

Bjørn Hofmann

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Background Although the issue of injustice in healthcare has been extensively discussed—particularly in relation to access to treatments—diagnostic injustice remains insufficiently addressed. Therefore, it is crucial to clarify the concept of diagnostic injustice, identify its underlying sources, and explore potential solutions to mitigate its impact. Content An ethical analysis of diagnostics reveals that diagnostic injustice manifests in various traditional forms of injustice, including distributive, procedural, social, structural, systemic, and epistemic injustice. A subsequent narrative review identifies various sources of diagnostic injustice, such as unclear diagnostic criteria, arbitrary diagnostics, unfair taxonomic processes, biomedical (technological) dominance, uncertainty, prejudice, stereotypes, biases, as well as diagnostic hierarchies. Corresponding to these sources of diagnostic injustice, a range of measures are proposed to mitigate its effects. Summary Diagnostic injustice is pervasive and rooted in a complex array of sources tied to social and professional norms and values, making it challenging to effectively mitigate. By clarifying the concept, pinpointing its sources, and recommending measures to manage diagnostic injustice, this article highlights the importance of promoting diagnostic justice in healthcare. Outlook Diagnostic injustice is an understudied topic that deserves more attention. This study defines the concept, identifies its sources, and suggests measures to mitigate its effects. As such it is the first step to address diagnostic injustice and to enhance the equity in healthcare. Future work should focus on developing and implementing effective interventions that target the identified sources of injustice, ultimately striving for a more just healthcare system.
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Transatlantic confusion in MS diagnostic criteria: one patient, two continents, zero diagnosis

November 18, 2025

Jagannadha Avasarala

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The lack of universal diagnostic criteria for multiple sclerosis (MS) delays diagnosis and care. Diagnostic guidelines widen existing gaps in neurological health depending on how they are applied by clinicians across the globe. The 2016 MAGNIMS and 2017 McDonald’s criteria for MS exclude cerebrospinal fluid (CSF) findings, and optic neuritis (ON), respectively, opening the door for missed diagnosis, which, in under-resourced settings, could have devastating consequences. When guidelines prioritize precision over clinical inclusion, they risk excluding patients with a true diagnosis, and undermine the very utility they aim to standardize. Diagnostic frameworks must evolve not only to reflect statistical rigor but support health policy that demands the real-world consequences of underdiagnosis just as heavily as the cost of overdiagnosis. Precision with inclusivity and epidemiologic modeling should be part of that conversation. The burden of MS is immense; we need universal diagnostic criteria that cut across borders.
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Performance of pulmonary physical exam skills by internal medicine interns

November 18, 2025

Shawn Y. Chou, Yin Liu, Amanda K. Bertram, Ariella A. Stein, Timothy M. Niessen, Emily Murphy, Brian T. Garibaldi

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Objectives To assess the pulmonary physical examination (PE) skills of internal medicine residents using real patients to inform pulmonary PE educational initiatives. Methods First year medicine residents (interns) from two large academic medical centers in Maryland examined the same patient with interstitial lung disease (ILD) as part of the Assessment of Physical Examination and Communication Skills (APECS). Interns were evaluated on five clinical domains: PE technique, identifying physical signs, generating a differential diagnosis, clinical judgment, and maintaining patient welfare. Spearman’s correlation test described associations between clinical domains. Preceptor comments were examined to identify errors in PE technique and identifying physical signs. Results One-hundred and fifty-five interns examined the same patient with ILD across 33 APECS sessions. 111 interns (71.6 %) correctly identified the presence of crackles; 96 interns (61.9 %) included ILD on their differential diagnosis. There was a significant and positive correlation between PE technique and identification of PE findings (r=0.48, p<0.0001). PE technique (r=0.19, p=0.016) and identifying signs (r=0.42, p<0.0001) were both significantly associated with generating an appropriate differential diagnosis, which in turn was significantly associated with appropriate clinical management (r=0.46, p<0.0001). Common errors were not auscultating the entire lung (55 interns, 35.5 %), auscultating through the gown (20 interns, 12.9 %), not percussing the chest (15 interns, 9.7 %), and using incorrect technique for percussion (37 interns, 23.9 %). Conclusions Medicine interns had variable skills in performing the pulmonary PE. Improving PE skills would lead to increased identification of relevant pulmonary findings, inform clinical decision making, and improve overall patient care.
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When two truths collide: overlapping herpes zoster and leukocytoclastic vasculitis in an atypical presentation

November 10, 2025

Hunter Cohn, Jeannie Hennessy, Stephanie Cotell, Stephanie Fabbro

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Objectives Diagnostic reasoning often favors simplicity, with clinicians seeking a single unifying explanation for a patient’s presentation. However, in certain cases, a narrow approach can lead to diagnostic oversight and delay. In this case, an early attribution of symptoms to leukocytoclastic vasculitis (LCV) postponed the recognition and treatment of an underlying varicella-zoster virus (VZV) infection. Case presentation An 88-year-old woman presented with palpable purpuric macules in a linear distribution along the right pretibial region, dorsum of the foot, and toes, accompanied by severe unilateral pain radiating from the foot to the buttock. The pain preceded the rash by one day, and no vesicles were noted by the patient or clinician. Clinically, the morphology was consistent with leukocytoclastic vasculitis, but the pain followed a dermatomal distribution, raising concern for varicella-zoster virus (VZV) infection. A biopsy ultimately confirmed both leukocytoclastic vasculitis and viral cytopathic changes. The patient improved with a combination of valacyclovir, prednisone, and gabapentin. Conclusions This case illustrates a diagnostically challenging presentation in which two distinct pathologies mimicked and masked one another. Anchoring on a unifying diagnosis led to premature closure, delaying antiviral therapy. Herpes zoster without vesicles is uncommon but documented, and VZV-induced vasculitis is rare. Together, they created a deceptive clinical picture. The case reinforces several key teaching points: the value of maintaining diagnostic flexibility, the importance of empiric antiviral treatment when herpes zoster is suspected, and the need to recognize cognitive biases that can distort clinical judgment. When findings are discordant or incomplete, clinicians should resist diagnostic simplification and remain open to diagnosing coexisting conditions.
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Simple time-resolved skin-prick assays as a pharmacodynamic readout in early drug development

November 10, 2025

Ludwig Englmeier

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Open Access
Diagnostic performance of lymphocyte transformation test and flow cytometry in the identification of culprit drugs in organ-specific serious adverse drug reactions

October 31, 2025

Carmen Ruiz-Fernández, Ibtissam Akatbach-Bousaid, Olga Rogozina, Susana Martín-López, Miguel Álvarez Montero, Ramon Pardo Puras, Zoraida Del Solar Moreno, Fiorela C. Dueñas López, Mikel Urroz Elizalde, Ana Martínez Feito, Miguel González-Muñoz, Elena Ramírez

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Objectives Serious adverse drug reactions (SADRs) require robust causality assessment methods. Identifying the culprit drug relies on clinical history, causality algorithms, and in vitro tests. The lymphocyte transformation test (LTT) is widely used, but flow cytometry has been proposed as an alternative due to LTT’s limitations. This study evaluated the diagnostic performance of LTT and CD69 upregulation on T lymphocytes by flow cytometry. Methods A total of 148 patients (150 SADRs) with at least a “possible” algorithmic causality score (≥4) were assessed using LTT and flow cytometry. Twenty-five healthy individuals served as negative controls. Over 98 % of cases were organ-specific reactions, with drug-induced liver injury being most frequent (52.6 %), and systemic antibiotics the most implicated drug group (29.7 %). Results 400 suspected drugs were analyzed. LTT and flow cytometry were positive in 43 and 30 % of patients, respectively. For cases with an algorithmic score≥6, sensitivity increased to 50 % for LTT and 33 % for flow cytometry. Sensitivity varied by reaction type (LTT: 17–47 %; flow cytometry: 20–38 %) and drug group (LTT: 17–86 %; flow cytometry: 18–50 %). Combining both tests improved sensitivity to 50–63 % by reaction type and 50–100 % by drug group. An algorithmic score≥6 combined with both tests further increased overall sensitivity to 70 %. Conclusions These findings show the added value of integrating multiple in vitro diagnostic approaches with causality algorithms to improve culprit drug identification in organ-specific SADRs. Future studies are needed to validate these findings.
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Salivary protein biomarkers for the diagnosis of oral squamous cell carcinoma: a systematic review and meta-analysis

October 27, 2025

Jayesh Beladiya, Dhruvi Mehta, Yashi Patel, Sandip Patel, Dharmistha Parmar, Sandip Dholakia, Devang Sheth, B. Mahalakshmi, Chirag A. Patel, Sai H.S. Boddu

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Identifying and assessing salivary protein biomarkers for the noninvasive diagnosis of oral squamous cell carcinoma (OSCC) could significantly enhance early detection, guide timely intervention, and ultimately improve patient survival and quality of life. A comprehensive search of PubMed, Google Scholar, and EMBASE databases was conducted to identify studies that assessed the potential of salivary protein biomarkers for screening OSCC. To assess the validity of the studies, two reviewers independently extracted data on sensitivity, specificity, positive and negative likelihood ratios (PLR and NLR), and diagnostic odds ratios (DOR). Owing to the expected variation between studies, a random effects model was used to combine the extracted data. The meta-analysis included 28 studies including 3,507 patients with OSCC and 3,501 control subjects that evaluated 37 salivary protein biomarkers. Pooled analysis across all biomarkers revealed a sensitivity of 0.71 (95 % CI 0.690–0.720), specificity of 0.69 (95 % CI 0.68–0.71), PLR of 3.04 (95 % CI 2.56–3.60), NLR of 0.37 (95 % CI 0.33–0.43), and DOR of 11.7 (95 % CI 8.02–15.29). Further analysis compared five specific biomarkers: interleukin-1 beta (IL-1β), tumor necrosis factor-alpha (TNF-α), interleukin-8 (IL-8), matrix metalloproteinase-9 (MMP9), and cytokeratin 19 fragment 21-1 (CYFRA21-1). Notably, MMP9 and CYFRA21-1 demonstrated sensitivity of 1.00 and 0.81, respectively, with specificities of 0.58 and 0.91, respectively, and high area under the curve (AUC) values of 0.9932 and 0.9447, respectively. Despite promising results, heterogeneity across studies warrants cautious interpretation. Focusing on promising candidates, this meta-analysis explored the potential of salivary protein biomarkers for diagnosing OSCC. Notably, MMP9 and CYFRA21-1 demonstrated good sensitivity, suggesting their strong potential for further development as noninvasive diagnostic tools.
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A framework for defining diagnostically challenging conditions identifiable through electronic algorithms

October 27, 2025

Andrew P.J. Olson, Jennifer Sloane, Andrew Zimolzak, Bhavika Kaul, Viralkumar Vaghani, Roni Matin, Rosann T. Cholankeril, Hardeep Singh

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Diagnostic delays and errors are serious and costly, affecting approximately 5 % of US adults in the outpatient setting annually. Patients with difficult-to-diagnose conditions may spend months or years undergoing diagnostic evaluation in search of a correct diagnosis. Methods are needed to identify patients with diagnostically challenging conditions (DCCs) who are experiencing diagnostic odysseys and, as a result, potential missed opportunities in their diagnosis. Given the increasing availability of longitudinal EHR data to map a patient’s journey, we propose a new framework to proactively identify patients with DCCs using electronic data. These patients are at risk for missed opportunities in diagnosis, and a timelier diagnosis can improve their outcomes. We propose criteria for identifying specific DCCs where the diagnostic process for that condition makes them amenable to detection using EHR-based algorithms. We discuss the application of the proposed framework to an exemplary case study of fibrotic interstitial lung disease and provide examples of algorithms that could be implemented in the future. This work can help identify patients earlier in their diagnostic journeys, resulting in adequate follow-up and fewer missed or delayed diagnoses. Our proposed framework can inform research and potential solutions that are more real-time to potentially mitigate and avoid delays in care and resulting harm.
Open Access
Surveying patients to assess timeliness of cancer diagnosis

October 27, 2025

Claire E. O’Hanlon, Carl Berdahl, Feifei Ye, Elie Ohana, Anagha Tolpadi, Melissa A. Bradley, Elizabeth Marsolais, Maxim Ptacek, Andrew J. Henreid, Rebecca Anhang Price

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Objectives To develop and test feasibility of patient survey-based quality measures to assess timeliness of cancer diagnosis. Methods We developed a 39-item survey through review of literature and measures, input from experts, and cognitive testing. We field-tested it in an urban health system among patients with new cancer diagnoses (prior 3–9 months); surveys were administered by web and mail September–October 2023. We calculated top-box scores and conducted confirmatory factor analysis for evaluative items and assessed construct validity through correlations to the diagnostic interval, number of health care visits, and overall assessments of care quality. Results The overall response rate was 23.9 %. The 276 respondents primarily spoke English (89 %), were non-Hispanic white (66 %), age 65+ (68 %), and college graduates (67 %). More than a quarter believed their cancer could have been diagnosed much sooner. Better communication with health care professionals, timely receipt of usual and specialty care, and ease of receipt and follow-up of tests, X-rays, and scans were positively associated with patients reporting that health care professionals could not have diagnosed the cancer much sooner. Patients reporting it was always easy to receive needed tests, X-rays, and scans and that they always received follow-up results were more than three times more likely to report a diagnostic interval less than or equal to 30 days (p<0.001). Conclusions Patients can report on barriers to timely diagnosis associated with the length of their cancer diagnostic interval. Surveys are a promising source of information regarding opportunities to improve timeliness of cancer diagnosis.
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Lessons in clinical reasoning – pitfalls, myths, and pearls: how search satisfying can keep eyes crossed

October 22, 2025

Margaret E. Tashjian, Jessica Parker, Rebecca G. Edwards Mayhew, Halden F. Scott, Joseph A. Grubenhoff

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Objectives Missed opportunities for diagnostic excellence are common and can lead to delayed diagnoses and initiation of treatment. Medical teams incorporate many elements into the diagnostic process, including patient factors, medical knowledge, data gathering, care environment, subspecialized personnel, and hospital processes. A case-based discussion describes how search satisfying – the tendency to stop searching once something has been found – and authority gradients can lead to delays in diagnosis. Case presentation A 2-year-old girl repeatedly presents to the emergency department with vomiting and periorbital swelling progressing to esotropia, initially found to have normal short-sequence MR brain imaging. After nonspecific labs and reassuring initial imaging, ophthalmologic consultation obtained during the child’s third emergency department visit proposed plausible diagnoses of benign post-viral esotropia or decompensated esotropia. When her exam worsened at ophthalmology clinic follow up, she was referred back to the emergency department for complete MR brain and orbit imaging leading to a diagnosis of bilateral orbital myositis. Conclusions Examining the diagnostic process through integrated commentary, this case emphasizes the importance of recognizing limitations of short-sequencing advanced imaging and continuing the diagnostic pursuit in collaboration with consultants. A fishbone diagram visually demonstrates the factors that lead to a missed opportunity for diagnostic excellence. The case concludes with clinical teaching points in addition to a pitfall, myth, and pearl specific to search satisfying and authority gradients.
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Seeing what is not there: negative evidence, diagnostic inertia, and the tuberculosis legacy

October 13, 2025

Robert I. Gluck

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In the early 20th century, tuberculosis (TB) reigned as the prototypical granulomatous disease, deeply embedded in the diagnostic mindset and reasoning of Western medicine. This article traces the diagnostic inertia that delayed recognition of Crohn’s disease by examining how the TB framework suppressed emerging patterns of negative evidence. While gastrointestinal tuberculosis (GITB) and Crohn’s disease are distinct entities, although they can closely mimic one another in clinical and histopathological presentation. We draw from the unpublished 1893 student notebook of Albert A. Berg – later a pioneering surgeon at Mount Sinai Hospital – and analyze its detailed descriptions of TB pathology, including identification of caseous necrosis, phthisis, and giant cell formation. These types of observations were foundational to medical education at the time and shaped generations of clinicians trained to see chronic intestinal inflammation as a variant of TB. The misclassification of Crohn’s disease persisted even into the 1930s, despite mounting clinical and surgical evidence suggesting a distinct entity. By anchoring our analysis in historical sources, including Berg’s personal records and published surgical literature, we show how TB’s diagnostic dominance represents a case study in medical paradigm entrenchment. We argue that the underemphasis of negative evidence – findings that failed to support the TB diagnosis – contributed to the decades-long lag in recognizing Crohn’s disease. While the article draws lessons from history that are relevant to modern paradigms, we note that in certain contemporary high-TB-burden settings such as India, where Crohn’s incidence is rising while GITB remains prevalent, diagnostic decisions may be shaped by a deliberate preference to treat presumptively for TB in order to avoid the potentially catastrophic consequences of inappropriate immunosuppression. (Choudhury A, Dhillon J, Sekar A, Gupta P, Singh H, Sharma V. Differentiating gastrointestinal tuberculosis and Crohn’s disease: challenges and clinical importance. BMC Gastroenterol 2023;23:123; Makharia GK, Srivastava S, Das P, Goswami P, Singh U, Tripathi M, et al. Clinical, endoscopic, and histological differentiations between Crohn’s disease and intestinal tuberculosis. Gut 2006;55:1413–9). Notwithstanding, the historical narrative carries contemporary relevance, illuminating how medical education, cognitive framing, and clinical culture continue to struggle with ambiguity and diagnostic alternatives. We conclude with implications for today’s clinical training: educators must explicitly teach the recognition and integration of negative evidence, challenge entrenched diagnostic heuristics, and highlight the possibility that what is absent may be just as diagnostic as what is present. These goals align with established competency frameworks that emphasize clinical reasoning, diagnostic accuracy, and cognitive flexibility.
Open Access
A Safety-II approach to learn from practice variation in the diagnostic process in the emergency department: an action research study

October 13, 2025

Rick Roos, Laura Zwaan, Myrthe Maranus, Iwan A. Meynaar, Vanessa J. Valk, Cees van Nieuwkoop, Gert-Jan Kamps, Hardeep Singh, Maarten O. van Aken

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Objectives The focus on improving patient safety has mainly been by learning from errors and near misses (Safety-I). We applied a novel Safety-II approach to identify and learn from practice variations in the diagnostic process in the emergency department (ED), and subsequently design and implement practice changes. Methods In this single-center study, we used action research (cycles of micro-experiments to study and improve processes with active stakeholder involvement) in the diagnostic process. We used three subsequent observation cycles of the following six steps: observations, gathering of follow-up data, analyses, a co-creation session with involved stakeholders, sharing of best practices, and updating the observation form. The observations and analyses focused on identifying practice variation in everyday practice rather than on what went right or wrong. During co-creation sessions, stakeholders discussed whether practice variations were reflective of possible improvements in the diagnostic process. Promising best practices were identified, and subsequently implemented as practice changes aiming to improve the diagnostic process. Implemented practice changes were evaluated in subsequent cycles. Results Forty diagnostic processes were observed. We identified practice variations that reflected the resilience and adaptability of clinicians, as well as variations revealing opportunities to improve the diagnostic process. Five identified best practices were implemented as practice changes: a template for the documentation of ED preannouncements, a document with relevant digital information resources for residents, face-to-face supervision by Internal Medicine consultants during office hours, blood sampling at triage, and adding lipase to the standard ED blood tests. These changes were well-received by stakeholders, also shown by an adoption-rate of 67–100 % of observed cases after implementation. Conclusions A Safety-II approach with action research and direct observations of the diagnostic process in the ED can be successfully applied to identify and learn from practice variation, and can lead to well-received practice changes.
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Rooted in reasoning: a clinical reasoning curriculum using diagnostic RCAs

October 7, 2025

David Klimpl, Stacey Staudinger

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Objectives Clinical reasoning skills are required for safe care, yet they are not consistently taught to advanced practice providers (APPs). In hospital medicine, where APPs work semi-independently, gaps in clinical reasoning can increase the likelihood of error. To address this, we developed a module that uses diagnostic root cause analysis (RCA) to teach clinical reasoning skills to hospital medicine APP fellows. Methods The curriculum was delivered from July 2021 to March 2025. Fellows selected real-world diagnostic errors encountered during clinical rotations, created cognitive fishbone diagrams, and presented their analysis in small-group. Results Twenty-seven fellows completed the module and pre-post assessment surveys. Statistically significant improvements were observed across all six domains of knowledge and confidence related to identifying error contributors, analyzing cases, and setting goals. Free-text responses highlighted the module’s emotional safety, peer learning value, and normalization of diagnostic reflection. Two learners published their projects as academic posters, and one graduate now co-facilitates the sessions. Conclusions This module offers a scalable, time-efficient approach to clinical reasoning education that is adaptable across learner levels and specialties. Its peer-led design fosters psychological safety, reflective practice, and creates a natural pathway for APPs to engage in microscholarship – addressing a critical gap in both education and academic inclusion.
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Multiple hepatic sclerosing hemangiomas mimicking malignant lesions, a diagnostic dilemma: case report and literature review

October 7, 2025

Dana M. Al Baali, Mahmoud M. Ajoub, Issa S. Al Qarshoubi, Babikir M. Ismail, Abdullah A. Al Rawahi, Fabrizio Panaro, Abdulateef S. Al Sulaimani, Abdullah Y. Al Farai

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Objectives Hepatic sclerosing hemangioma (SH) is a rare benign liver lesion that poses a significant diagnostic challenge due to its ability to mimic malignant hepatic tumors on imaging. Case presentation We report the case of a 67-year-old woman with diabetes, hypertension, and chronic kidney disease who presented with incidental liver lesions discovered during the workup of elevated alkaline phosphatase. Cross-sectional imaging, including MRI and PET-FDG, revealed multiple atypical hypodense hepatic lesions with perihilar biliary obstruction, initially raising concern for cholangiocarcinoma. Multiple tissue biopsies including Spyglass-guided and percutaneous attempts were non-diagnostic, and the clinical suspicion of malignancy persisted. Diagnostic laparoscopy and targeted incisional biopsy ultimately confirmed the diagnosis of sclerosing hemangioma. The patient underwent laparoscopic wedge resection and has remained well on follow-up for more than two years. Conclusions This case highlights the importance of maintaining a broad differential diagnosis in the evaluation of atypical hepatic lesions, the limitations of radiological findings, and the value of a stepwise multidisciplinary approach in avoiding unnecessary major resections. A focused review of the literature supports the rarity of this entity and emphasizes the need for tissue diagnosis in ambiguous cases.
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Diagnostic errors in acute cholecystitis: a scoping review

October 2, 2025

Taku Harada, Taiju Miyagami, Yukinori Harada, Taro Shimizu

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Introduction Diagnostic errors in acute cholecystitis significantly impact patient safety. Misdiagnosis, including both false negatives and false positives, is common due to the complex nature of abdominal pain and the overlapping symptoms of various conditions. This scoping review examines the definition, prevalence, and contributing factors of diagnostic errors in acute cholecystitis, emphasizing the need for improved diagnostic processes. Content Employing the PRISMA-ScR framework, this review examined definitions and factors contributing to diagnostic errors in cholecystitis. It highlights the variability in diagnostic criteria, with many studies relying on clinical judgment rather than standardized guidelines such as the Tokyo Guidelines. False negative diagnoses are often due to hypoalbuminemia, inconspicuous imaging findings, and the clinical setting, whereas false positives often result from misinterpreted imaging findings and failure to differentiate from other conditions. Summary This review found that approximately 30 % of acute cholecystitis cases may be missed (false negative), and 20–36 % of cases initially diagnosed can be incorrect (false positive). Adherence to standardized guidelines and improved recognition of atypical presentations could reduce diagnostic errors. Outlook Future research should aim for large-scale studies with clear diagnostic criteria and detailed clinical data to enhance diagnostic accuracy and patient safety.
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A tailored fit that doesn’t fit all: the problem of threshold overfitting in diagnostic studies

September 16, 2025

Javier Arredondo Montero

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Objectives To critically examine the phenomenon of threshold overfitting in diagnostic accuracy research and evaluate its methodological implications through a structured review of relevant literature. Methods This article presents a narrative and critical review of methodological studies and reporting guidelines related to threshold selection in diagnostic test accuracy. It focuses on the misuse of post hoc thresholds, the misapplication of bias assessment tools such as QUADAS-2, and the frequent absence of independent validation. In addition to identifying these structural flaws, the article proposes a set of five concrete safeguards – ranging from transparent reporting to rigorous risk of bias classification – designed to mitigate threshold-related bias in future diagnostic studies. Results Thresholds are frequently derived and evaluated within the same dataset, inflating sensitivity and specificity estimates. This overfitting is seldom acknowledged and is often misclassified as low risk of bias. QUADAS-2 is frequently misapplied, with reviewers mistaking the mere presence of a threshold for proper pre-specification. The article identifies five key safeguards to mitigate this bias: (1) clear declaration of pre-specification, (2) justification of threshold choice, (3) independent validation, (4) full performance reporting across thresholds, and (5) rigorous application of bias assessment tools. Conclusions Threshold overfitting remains an underrecognized but methodologically critical source of bias in diagnostic accuracy studies. Addressing it requires more than awareness – it demands transparent reporting, proper validation, and stricter adherence to methodological standards.
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Unmasking amyloid light-chain amyloidosis through biochemical lens: diagnostic utility of urine immunofixation in serum-negative cases

September 16, 2025

Lekha priyadharshini Kamarajan, Ravi Ranjan Kumar Suman, Rajeev Ranjan, Sushil Kumar, Amresh Krishna, Mala Mahto

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Objectives AL amyloidosis is a rare disorder caused by deposition of misfolded immunoglobulin light chains as amyloid fibrils in vital body organs. The diagnosis requires a triad: identification of a monoclonal protein (via serum/urine studies), histological confirmation of amyloid deposits and clinical evidence of organ dysfunction. Serum protein electrophoresis (SPEP) and immunofixation (SIFE) are first-line tests but fail to detect monoclonal proteins in 10–20 % of cases, particularly those with low plasma cell burden or rapid renal excretion of FLCs. Serum free light chain (FLC) assays and urine immunofixation (UIFE) are indispensable in such scenarios but tissue biopsy remains the diagnostic cornerstone. Case presentation We discuss a 67-year-old man who presented with a 4-month history of progressive bilateral lower limb edema, fatigue and frothy urine. Initial evaluation revealed nephrotic-range proteinuria. SPEP and SIFE showed no monoclonal bands. X-ray skull revealed multiple punched-out lytic lesions, raising suspicion of an underlying plasma cell dyscrasia. UIFE identified a monoclonal lambda light chain. Renal biopsy confirmed amyloid deposition. The patient was initiated on bortezomib-dexamethasone chemotherapy, targeting the plasma cell clone to halt amyloid production. Conclusions This case underscores the diagnostic challenges of AL amyloidosis, particularly in serum-negative presentations with low tumor burden. Role of UIFE was pivotal in detecting monoclonal lambda light chains excreted via the kidneys, overcoming the limitations of serum-based assays. The absence of serum monoclonal proteins in early-stage disease mandates a multimodal approach: integrating clinical suspicion (e.g., nephrotic syndrome, cardiomyopathy, or neuropathy in older adults), urine studies, serum FLC assays, and targeted biopsies.
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Diagnostic errors in older patients: a secondary analysis of case reports

September 16, 2025

Kotaro Kunitomo, Yukinori Harada, Takashi Watari, Taku Harada, Taro Shimizu

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Objectives Diagnostic errors are a significant source of patient harm and occur more frequently in older adults due to comorbidities, symptom ambiguity, and communication barriers. However, how these errors differ between older and younger patients remains unclear. The aim of this study was to examine the characteristics of diagnostic errors in older patients using published case reports. Methods We performed a secondary analysis of 534 case reports from a systematic review. Cases were divided into older (≥65 years, n=115) and younger (<65 years, n=419) groups. Data were extracted and coded using the diagnostic error evaluation and research (DEER), reliable diagnosis challenges (RDC), and generic diagnostic pitfalls (GDP) frameworks. Results Older patients had significantly more DEER codes per case than younger patients (2.5 vs. 2.0; p=0.01). Key DEER codes were more frequent in older adults, including “Physical examination: Failure in weighing” (7.8 vs. 2.9 %), “Assessment: Failure/delay in considering the diagnosis” (74.8 vs. 64.0 %), and “Assessment: Failure/delay to recognise/weigh urgency” (7.8 vs. 2.9 %). In RDC, “Diagnosis of complications” was also more common in older patients (11.3 vs. 5.3 %). No significant differences were found in GDP coding. Conclusions Diagnostic errors involving failure to consider the correct diagnosis, recognize urgency, and identify complications were more common in older patients. Understanding these mechanisms is essential to develop diagnostic strategies specific to older patients.
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Development of a simple diagnostic tool predicting the aseptic nature of a joint effusion: a pragmatic pilot study

September 12, 2025

Arthur Vrignaud, Guillaume Direz, Amélie Denis, Emmanuelle Dernis

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Objectives Among all of the swollen joints undergoing an aspiration in primary care, approximately 92 % are of nonseptic cause. This study therefore sought to develop a predictive model, based on simple clinical and paraclinical data, with the aim of predicting the aseptic nature of joint effusion. Methods This is a cohort, prospective, monocentric study. Some explanatory variables were predetermined on the basis of the literature review. A predictive model has been established based on these variables. In order to prioritise the negative predictive value, a cut-off point considering the best specificity for an observed sensitivity greater than or equal to 98 % was retained. Results A total of 328 participants, 49.1 % of whom were women, were included in this study, with a median age of 69 years. The median duration of evolution of joint effusion before the puncture was 30 days. Joint fluid had inflammatory characteristics in 46.0 % of cases and 8 septic arthritis were identified. The area under the receiver operating characteristic (ROC) curve of the predictive model was evaluated at 0.93. The model includes the maximum temperature, the polyarticular nature of the clinical picture and the macroscopic appearance of the joint fluid. Conclusions This study made it possible to develop a simple and easily accessible predictive model in a primary care setting. This tool could make it possible to exclude a priori the septic aetiology of one out of four native joint effusions. Its performances remain to be determined on an independent population in a subsequent study (confirmation cohort in progress).
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The disproportionate impact of pre-test probability estimation errors: an analysis across different pre-test probability contexts

September 2, 2025

Matheus Bento de Souza, José Nunes de Alencar

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Objectives Diagnostic reasoning in clinical medicine is permeated by uncertainty. This study aims to analyze how errors in the estimation of pre-test probability affect the application of Bayesian inference in diagnostic reasoning. Methods We examined the propagation of pre-test probability misestimation through Bayes’ Theorem, focusing on its interaction with different likelihood ratios and pre-test probabilities. The analysis explored the mathematical consequences of prior misestimation on post-test probability estimation. Results We demonstrate that misestimation of prior probabilities has a nonlinear impact on posterior probabilities, with errors propagating differently depending on the likelihood ratio of the diagnostic test and the real pre-test probability. Misestimated priors can produce substantial distortions in posterior probabilities, leading to misplaced confidence in diagnostic test results. Conclusions Accurate estimation of pre-test probability is essential for the validity of Bayesian diagnostic reasoning. Objective and evidence-based approaches to pre-test probability estimation are necessary to minimize diagnostic errors and to enhance the reliability of clinical decision-making.
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Pre-analytical interference in point-of-care troponin T testing: a case series

September 2, 2025

Lekha Priyadharshini Kamarajan, Priyanshu Tripathi, Sushil Kumar, Anupam Bhambhani, Mala Mahto

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Objectives To examine the impact of haematological and biochemical abnormalities on the failure of point-of-care troponin T (POCT) testing in patients with suspected acute coronary syndrome (ACS). Case presentation Five patients underwent Roche Troponin T Card Test (lateral flow immunoassay) in an emergency setting. Despite correct sampling and procedural adherence, no valid results were obtained resulting in an aborted test. Laboratory analysis revealed severe anaemia, polycythaemia, leucocytosis, thrombocytopenia, and hepatic and renal dysfunction across cases. After stabilization, repeat POCT yielded valid results in all survivors, correlating with normalized haematological parameters. Conclusions Pre-analytical factors such as extreme haematocrit, leucocytosis, and biochemical derangements can cause POCT failure. Pre-testing screening and guideline updates are essential to optimize POCT reliability in acute care.
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Incivility in the context of diagnostic safety: a theoretical analysis

August 12, 2025

Ana Lorena Hermosilla

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Objectives To analyze a theoretical framework that incorporates incivility among healthcare teams in relation to diagnostic safety, and to assess its potential utility for advancing research and practice. Methods A structured literature review was conducted across PubMed, Web of Science, and CINAHL using search terms such as “diagnostic safety,” “team dynamics,” “theoretical framework,” “incivility,” and “diagnostic framework”. A theoretical framework was selected for analysis. Walker and Avant’s six-step theory analysis method was applied to assess the framework’s origins, meaning, logical adequacy, usefulness, generalizability, parsimony, and testability. Results The literature review yielded 144 articles after screening and applying inclusion criteria. Ten articles were reviewed, and the Model of Ward Team Dynamics in Diagnosis by Choi et al. was selected for analysis, as it was the only framework that explicitly addressed unacceptable behaviors (i.e., incivility) in diagnostic team settings. The Choi et al. framework uniquely integrates unacceptable behaviors as a mediating factor in diagnostic team performance, distinguishing it from other diagnostic models. The analysis found the framework to be conceptually well-grounded, with several constructs operationally defined and empirically measurable. However, gaps were identified in parsimony and the clarity of relational statements, indicating opportunities for refinement and empirical testing. Conclusions The framework offers a valuable theoretical foundation for studying the impact of incivility on diagnostic safety. Its integration of behavioral constructs supports its relevance for empirical research and intervention development aimed at improving team dynamics and diagnostic outcomes.
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Advancing diagnostic stewardship in contemporary medical practice

August 12, 2025

Isaac K.S. Ng, Zhen Jonathan Liang, Wilson G.W. Goh, Adrian C.L. Kee, Tow Keang Lim

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Over-testing, or the inappropriate use of diagnostic tests, is a highly prevalent phenomenon in modern medical practice, driven by a variety of physician, patient/disease, practice environment and system-related factors. Most of the time, physician proclivities to over-investigate fundamentally reflects a flawed clinical reasoning process under real-world practice conditions. Over the years, various educational campaigns and interventions such as the Choosing Wisely programme have been attempted to varying success, without clear evidence of a sustained reduction in the excessive/inappropriate use of diagnostic tests in clinical practice. Therefore, in this article, we hope to provide fresh perspectives on the concept of “diagnostic stewardship”, which has hitherto been largely confined to the realm of infectious diseases to govern responsible clinical use of antimicrobials, by explaining its role in the delivery of patient-centered and sustainable healthcare. We further explore the underlying contributors to over-testing and how it relates to flaws in clinical reasoning in real-world settings. Lastly, we discuss multi-level educational and practice-based interventions that may help to curb the tide of profligate diagnostic testing behaviors.
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Misdiagnosis in carpal tunnel syndrome: amyloidosis and other red flags. A narrative review

August 1, 2025

Jorge Menéndez-Cámara, David Cecilia-López, Lorena García-Lamas, Celia Castillo-Fernández, Luis Matesanz-García, Josué Fernández-Carnero

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Introduction Carpal tunnel syndrome (CTS) involves the entrapment of the median nerve at the wrist. Despite acceptable sensitivity and specificity in diagnostics tests, errors persist, leading to unsuccessful treatments, especially when CTS is an early sign of other conditions. Content This review aims to identify red flags that may manifest as CTS or coexist with it, and to describe their clinical presentations. Summary A PubMed search (2000–2025) yielded 622 articles, with 24 included in the review. Of these, 12 articles explored CTS and amyloidosis, three with neurological pathologies, three with tumours, two with rheumatic diseases, one with Raynaud’s disease, one on CTS in children, and two with other conditions. Outlook Many conditions can be mistaken for CTS. Given its high prevalence, healthcare professionals must distinguish these to reduce surgical failures and improve early detection of conditions like cardiac amyloidosis or multiple sclerosis.
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Learning from what goes right: a safety-II framework for improving diagnosis at the point of care

July 17, 2025

Taro Shimizu

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Traditional approaches to improving diagnosis in medicine have focused mainly on identifying and analyzing errors using the Safety-I perspective. Yet, the vast majority of diagnostic encounters are successful, and structured reflection on these positive outcomes remains uncommon in current practice. In this article, I introduce SIDER (Specification, Ishikawa diagram, driver diagram, Engaging the patient and the team, Reflection), a practical protocol designed to embed Safety-II principles into routine diagnostic reflection by encouraging clinicians to learn from what goes right. SIDER guides clinicians through five clear phases: specifying a particularly challenging or instructive case, mapping contributing factors using an Ishikawa diagram, translating those findings into actionable strategies with a driver diagram, engaging the care team and patient to gather collective insights, and concluding with individual reflection to support ongoing calibration and learning. I describe how SIDER enables clinicians to extract broad and transferable lessons from successful but complex diagnostic cases, complementing traditional error analysis and supporting a culture of continuous improvement. By adopting this framework, healthcare teams can expand opportunities for experiential learning, strengthen adaptive expertise, and advance safer diagnostic practice. Future studies are warranted to evaluate the effectiveness of SIDER-guided reflection in enhancing diagnostic performance and improving patient outcomes.
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Creativity and diagnostic reasoning

May 6, 2025

Sho Isoda, Taro Shimizu, Tadayuki Hashimoto, Masasi Hattori, Tomio Suzuki

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Creativity is an important component of diagnostic reasoning, enabling the generation of novel and effective diagnostic hypotheses, in collaboration with abduction. The creative process not only fosters insight – critical for overcoming diagnostic challenges – but also enhances calibration by encouraging the exploration of alternative hypotheses. Insight, a key component of creativity, emerges when clinicians reconsider problems from fresh perspectives, breaking through diagnostic impasses. Similarly, calibration, essential for mitigating cognitive biases, promotes the generation and evaluation of alternative hypotheses. By fostering insight and calibration, creativity enhances precision and effectiveness of diagnostic reasoning. Leveraging insights from cognitive psychology to promote creativity can further elevate diagnostic reasoning, driving innovation and excellence in diagnosis. This article explores the pivotal role of creativity in diagnostic reasoning, its applications in diagnosis, approaches to nurture it, and its limitations, ultimately aiming to inspire innovation and excellence in the pursuit of diagnostic accuracy and patient care.

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Special Issue: 10 Years After “Improving Diagnosis in Health Care”; Where Have We Been and Where Are We Going?; Issue Editors: Mark L. Graber, Edward P. Hoffer, Hardeep Singh

Special issue: The Future of Diagnosis; Issue Editors: Mark Graber, Ava L. Liberman, Andrew Olson, Andrew S. Parsons, Verity Schaye

Special Issue: COVID-19: The Diagnostic Challenge

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Special issue: Situativity: A Family of Social Cognitive Theories for Clinical Reasoning and Error; Issue Editors: Steven Durning, Eric Holmboe, Mark L. Graber

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Special Issue: The Preanalytical Phase – A Field for Diagnostic Improvement / Issue Editor: Alexander von Meyer

Special Issue: Improving diagnosis in radiology – progress and proposals / Guest Editors: Michael Bruno, Kevin Johnson, Nick Argy and Mark L. Graber

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Special Issue: Update on the management of acute coronary syndrome / Guest Editors: Evangelos Giannitsis and Hugo A. Katus

Diagnosis publishes special and thematic issues focussed on important and emerging topics in the field of study. The journal has established a rigorous process to ensure that any special issue manuscripts follow the same high-quality standards and peer review processes as regular manuscripts. For further information on the journal’s peer review policy please see the "Instructions for Authors".

Recent Special Issues

Volume 12 | Issue 4 Special Issue: 10 Years After “Improving Diagnosis in Health Care”; Where Have We Been and Where Are We Going?; Issue Editors: Mark L. Graber, Edward P. Hoffer, Hardeep Singh

Journal Impact Factor	2	2024, Journal Citation Reports (Clarivate, 2025)
5-year Journal Impact Factor	2.4	2024, Journal Citation Reports (Clarivate, 2025)
Journal Citation Indicator	0.6	2024, Journal Citation Reports (Clarivate, 2025)
CiteScore	4.7	2024, Scopus (Elsevier B.V., 2025)
SCImago Journal Rank	0.642	2024, SJR (Scimago Lab, 2025; Data Source: Scopus)
Source Normalized Impact per Paper	0.866	2024, CWTS Journal Indicators (CWTS B.V., 2025; Data Source: Scopus)

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Co-Editors

Mark L. Graber, Society to Improve Diagnosis in Medicine (SIDM), Plymouth, MA
Mario Plebani, University Hospital, Padova, Italy

Associate Editors

Christina L. Cifra, Boston Children's Hospital, MA
Giuseppe Lippi, University Hospital of Verona, Verona, Italy
Andrew Olson, University of Minnesota Medical School, Minneapolis, MN
Satid Thammasitboon, Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Dario Torre, Primary Uniformed Services, University of Medicine, Bethesda, MD

Section Editors – Case Reports

Andrew Parsons, University of Virginia, Charlottesviille, VA
Melissa Plesac, University of Minnesota Medical Center, Minneapolis, MN
Verity Schaye, New York University School of Medicine, New York, NY

Editorial Board

Daniela Basso, University Hospital of Padova, Padova, Italy
Carmel Crock, Melbourne, Royal Victorian Eye and Ear Hospital, Australia
Pat Croskerry, Dalhousie University, Halifax, Canada
Gurpreet Dhaliwal, San Francisco VA Medical Center, San Francisco, CA
John Ely, University of Iowa Carver College of Medicine, Iowa City, IA
Evangelos Giannitsis, University of Heidelberg, Heidelberg, Germany
Michael Laposata, University of Texas Medical Branch, Galveston, TX
Yoryos Lyratzopolous, University of Cambridge, Cambridge, United Kingdom
Jason Maude, Isabel Healthcare, Surrey, United Kingdom
David Newman-Toker, Johns Hopkins Hospital, Baltimore, MD
Joseph J. Rencic, Boston University School of Medicine, Boston, MA
Taro Shimizu, Dokkyo Medical University Graduate School of Medicine, Tochigi, Japan
Geeta Singhal, Baylor College of Medicine, Pediatrics, Houston, TX
Dean F. Sittig, University of Texas Health Science Center, Houston, TX
Alexander von Meyer, Weiden, Germany
Laura Zwaan, Institute of Medical Education Research Rotterdam (iMERR), Erasmus MC, Rotterdam, Netherlands

Editorial
Heike Jahnke
De Gruyter Brill
Berlin, Germany
E-mail: diagnosis.editorial@degruyter.com

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Medicine Basic Medical Science Basic Medical Science, other

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Journal information

Additional information

eISSN:

2194-802X

ISSN:

2194-8011

Language:

English

Publisher:

De Gruyter

Additional information

First published:

January 22, 2014

eISSN: 2194-802X

ISSN: 2194-8011

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academics, physicians, educators, healthcare managers and leaders, patients, the diagnostic industry, and policy makers

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