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Zeitschrift

Diagnosis

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

Editors-in-Chief: Mark L. Graber und Mario Plebani

Sprache: Englisch

Erstveröffentlichung: 22. Januar 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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The growing threat of hijacked journals
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Open Access
Appendicitis: common and commonly missed – the story of Alice Tapper

1. August 2025

Antonio J. Dajer, Andrew P.J. Olson

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Objectives The misdiagnosis of appendicitis remains frequent. Better understanding of its clinical evolution over time would decrease the incidence of misdiagnosis. Case Presentation At the Society to Improve Diagnosis in medicine conference in Cleveland Ohio in October 2023, Alice Tapper and her father, CNN journalist Jake Tapper, presented her case of misdiagnosed appendicitis. Thanks to meticulous notes and a detailed timeline, the case vividly demonstrates the protean nature of appendicitis as well as the cognitive pitfalls of clinicians who treat it. Conclusion McBurney's point tenderness is over-emphasized as the key to the diagnosis of appendicitis.
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Performance of pulmonary physical exam skills by internal medicine interns

18. November 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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Diagnostic errors in older patients: a secondary analysis of case reports

16. September 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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Deliberate solitude for clinical reasoning

6. Januar 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.
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Minimizing the discard blood volume from the central venous catheter for routine laboratory testing in adult intensive care unit

8. Juli 2025

Ivana Lapić, Josipa Kostelac, Luka Bielen, Ana Vujaklija Brajković, Ivana Rupčić Gračanin, Dunja Rogić, Radovan Radonić

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Objectives The aim was to reduce blood loss related to laboratory blood sampling by decreasing the discard blood volume from the central venous catheter (CVC) from 10 to 3 mL, and replacing the 3 mL tube for complete blood count (CBC) with a 2 mL tube. A comparison study was performed, and after introduction of this modified protocol the decrease in withdrawn blood was calculated. Methods In 52 adult inpatients at the ICU 3 mL of blood was discarded from the CVC, and blood was drawn in a 5 mL serum tube and a 2 mL EDTA tube (test samples), followed by subsequent sampling for routine laboratory testing using the same blood tubes (routine samples). In paired test and routine samples, clinical chemistry testing and CBC were performed. Results High correlations (ρ>0.90) were obtained for the majority of parameters. Small constant difference was obtained for hemoglobin. Small significant biases were observed for hemoglobin, MCHC, albumin, ALT, calcium, chlorides, MCV and glucose, however, being below the biases of the analytical methods. No statistically significant differences between test and routine samples were found for any of the assessed tests (p>0.05). Implementation of the 3 mL discard blood volume protocol and transition to a smaller volume tube for CBC reduced the amount of withdrawn blood by almost half (46 %). Conclusions The 3 mL discard blood volume from the CVC can be safely used for routine hematology and clinical chemistry testing. The dual approach assessed herein can contribute to reduction of iatrogenic blood loss.
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Transatlantic confusion in MS diagnostic criteria: one patient, two continents, zero diagnosis

18. November 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.
Open Access
Diagnostic injustice. What is it, what are its sources, and what can we do about it?

18. November 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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Hijacked medical journals and the risk to scholarly integrity: a web analytics study of prevalence, traffic channels, and geographic origins of traffic

7. Januar 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.
Öffentlich zugänglich
Reviewer Acknowledgment

23. Januar 2026

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Open Access
Surveying patients to assess timeliness of cancer diagnosis

27. Oktober 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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Simple time-resolved skin-prick assays as a pharmacodynamic readout in early drug development

10. November 2025

Ludwig Englmeier

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Lessons in clinical reasoning – pitfalls, myths, and pearls: how search satisfying can keep eyes crossed

22. Oktober 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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Prognostic role of previous syncope spells in ED patients with syncope

30. Mai 2025

Filippo Numeroso, Ivo Casagranda

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Objectives In the prognostic evaluation of syncopal patients, previous episodes have a somewhat ambivalent role, as they are usually associated to reflex syncope, with a benign prognosis, but according to some authors when frequent require further investigations even in case of a negative ED workup. Methods Retrospective observational study in a cohort of 378 ED syncopal patients to investigated the presence of previous episodes and their prognostic significance, in predicting cardiac syncope, syncope associated to underlying acute diseases and syncope severe due to consequential risk. Results We found previous syncopal episodes in over half of patients (57.4 %); mostly few (up to two episodes in total in 63.8 %), with a trends over time very rare or occasional, in a small minority complicated by major injuries. As regards the prognostic role of syncopal recurrences, we found: 1. no association between their total number in life with any outcome considered; 2. a close association between presence of acute principal diseases and absence of previous episodes; 3. a close association between severe syncope due to consequential risk and a frequent or recurrent time course of previous spells and previous episodes worsened by major injuries. Conclusions Previous episodes, although frequent, don’t correlate with adverse outcomes so don’t help to identify high risk patients. Conversely, a first syncopal episode, especially in elderly patients, requires careful evaluation to rule out any underlying acute condition. Additionally, attention should be also paid to patients with previous episodes clustered in the last period or complicated by severe injuries, as they negatively impact quality of life.
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Decision curve analysis explained

7. Januar 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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Development of a simple diagnostic tool predicting the aseptic nature of a joint effusion: a pragmatic pilot study

12. September 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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Optimizing use of illness script builder templates in medical education

29. Mai 2025

Erin H. Yang, Joseph Rencic, Alec B. Rezigh, Prathit A. Kulkarni

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Illness scripts are mental networks of information about medical diseases and are used by clinicians to efficiently make diagnostic and treatment decisions. The traditional components of an illness script include the epidemiologic risk factors, pathophysiology, and clinical findings of a disease [Feltovich PJ, Barrows HS. Issues of generality in medical problem solving. In: Schmidt HG, De Volder ML, editors. Tutorials in problem-based learning. Assen/Maastricht: Van Gorcum; 1984:128–42 pp]. Here, we coin the term illness script builder templates (ISBTs), which are educational tools to help learners develop their illness scripts. While the actual concept of ISBTs is not new, we aim to explicitly distinguish these discrete learning tools from illness scripts themselves, which are mental frameworks. ISBTs have significant pedagogic value. They are being more widely adopted in clinical curricula in medical school, as they have been well-received by students and educationally effective. ISBTs allow the integration of new knowledge to be intuitive, as they take advantage of our predilection toward story-based learning. Limitations to ISBTs also exist, especially when considering their optimal length and structure as well as complexity for different levels of learners. We additionally explore the specific strengths and limitations of ISBTs and propose strategies to maximize their use in education and clinical practice.
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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

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

31. Oktober 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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Benchmarking AI chatbots: assessing their accuracy in identifying hijacked medical journals

22. Mai 2025

Mihály Hegedűs, Mehdi Dadkhah, Lóránt Dénes Dávid

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Objectives The challenges posed by questionable journals to academia are very real, and being able to detect hijacked journals would be valuable to the research community. Using an artificial intelligence (AI) chatbot may be a promising approach to early detection. The purpose of this research is to analyze and benchmark the performance of different AI chatbots in identifying hijacked medical journals. Methods This study utilized a dataset comprising 21 previously identified hijacked journals and 10 newly detected hijacked journals, alongside their respective legitimate versions. ChatGPT, Gemini, Copilot, DeepSeek, Qwen, Perplexity, and Claude were selected for benchmarking. Three question types were developed to assess AI chatbots’ performance in providing information about hijacked journals, identifying hijacked websites, and verifying legitimate ones. Results The results show that current AI chatbots can provide general information about hijacked journals, but cannot reliably identify either real or hijacked journal titles. While Copilot performed better than others, it was not error-free. Conclusions Current AI chatbots are not yet reliable for detecting hijacked journals and may inadvertently promote them.
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Spurious test results as a diagnostic clue – pseudohyponatremia revealing multiple myeloma

13. Januar 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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Advancing diagnostic stewardship in contemporary medical practice

12. August 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

1. August 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.
Open Access
A Safety-II approach to learn from practice variation in the diagnostic process in the emergency department: an action research study

13. Oktober 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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Diagnostic errors in acute cholecystitis: a scoping review

2. Oktober 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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Clinical implications of conjugated vs. direct bilirubin testing: analytical limits and clinical consequences

2. Juni 2025

Oswald Sonntag, Giuseppe Lippi

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Diagnostic pitfalls: how availability and anchoring biases lead to errors in dermatology

25. September 2025

Austin S. Cusick, Leo Wan, Angela S. Casey, Robert Baiocchi, Stephanie K. Fabbro

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Objectives We will explore the diagnostic similarities of spindle cell neoplasms and the attributed heuristics that lead to misdiagnosis biases. The biases explored will include availability bias and anchoring bias, with a discussion on the events leading to their formation. Case presentation A 58-year-old African American male with a past medical history of well-controlled HIV presented to the dermatology clinic for a two-year history of several persistent skin nodules on his lower legs. One lesion on his left lateral calf, a 1.5 cm dome-shaped nodule with a centralized keratinous plug, was suspicious for squamous cell carcinoma (SCC), prompting a shave biopsy. The dermatopathology report identified the lesion as dermatofibrosarcoma protuberans (DFSP) with CD34 positivity and the patient was referred for Mohs Micrographic Surgery. Frozen sections during Mohs surgery revealed concern for an alternative diagnosis, which was then confirmed as Kaposi Sarcoma. Conclusions This case highlights the susceptibility of dermatology to misdiagnosis. Availability bias in the clinical setting led to an inadequate biopsy method. Further anchoring bias then potentially influenced histologic interpretation and management decisions. Insufficient appreciation of Kaposi Sarcoma development in the setting of well-controlled HIV also further influenced the diagnosis rendered. Mohs Surgery evaluation allowed for de-biased clinical and histologic assessment, correcting diagnosis. Several overlying factors, such as time pressures, knowledge gaps, and technique limitations, create a reliance on cognitive heuristics. Recognizing these external pressures can help clinicians enhance diagnostic accuracy by systematically considering alternative diagnoses.
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Integrating basic sciences and clinical skills: a thread of Clinicopathological Correlations in a Clinical Skill Course

23. Mai 2025

Ghaith Al-Eyd, Lauren Fine, Yolanda Payne-Jameau

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Understanding the pathologic basis of diseases and their clinical correlates has been growing in parallel to the relevant advances in science and medicine. However, most reformed medical school curricula have mainly addressed the overall content integration with a less emphasis on explicitly structuring the integration of pathophysiology or other relevant basic sciences in clinical skills (CS) courses. Clinicopathologic Correlations (CPCOR), when effectively designed in CS courses, link the clinical findings to their related basic science fundamental changes. Regular highlighting of relevant CPCORs in CS courses enhances student acquisition of clinical reasoning skills and at the same time triggers their translational scientific curiosity. The six-step CPCOR process, detailed in the manuscript, starts with developing session learning objectives that guide CPCOR content development relevant to the weekly CS case. A typical CPCOR session includes pre-encounter and post-encounter small group activities in which students formulate broad and narrow differential diagnosis respectively. Throughout the session, students discuss risk factors, etiopathogenesis, and history and physical examination findings for the identified differential diagnoses. These small group activities are enhanced by a large group session delivered by a Pathologist-Clinician team that leads student centered CPCOR discussions relevant to the weekly CS case. In addition to the enhanced clinical reasoning skills, the implemented CPCOR process augmented the curricular emphasis of lifelong learning skills while reinforcing the importance of the pathologic basis of the clinical findings. Our streamlined CPCOR process can easily be adapted into other medical school curricula to meet relevant needs of integration and clinical reasoning enhancements.
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Does ANA positivity alone lead to microcirculatory alterations detectable by capillaroscopy?

29. Mai 2025

Angelo Nigro

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Rashes and reflection: a novel curriculum using clinical reasoning to teach ambulatory dermatology to internal medicine residents

16. September 2025

Anne Richardson, Katherine Gavinski, Lauryn Falcone, Scott Rothenberger, Kwonho Jeong, Tanya Nikiforova

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Objectives Internists do not feel competent in diagnosing and treating common dermatologic conditions. Teaching clinical reasoning principles in graduate medical education can improve trainees’ diagnostic accuracy, but previously published dermatology curricula did not emphasize these skills. We developed a novel curriculum applying clinical reasoning concepts to teach internal medicine (IM) residents how to describe dermatologic lesions, develop differential diagnoses, and use deliberate reflection to improve diagnostic accuracy for four common dermatologic complaints. Methods Five asynchronous, interactive 10-min online modules were developed and administered to all 152 IM residents at a large academic residency program in 2023. Residents were evaluated for their ability to describe dermatologic lesions, their diagnostic accuracy, and their deliberate reflection skills. Residents completed this novel assessment before, immediately after, and four months after the curriculum. Linear mixed effects regression models were used to assess changes in assessment scores over time. Results One hundred eleven of 152 residents (73 %) participated in the study. Total assessment scores improved between pre-test and post-test (mean difference 0.98, 95 % CI [0.32, 1.64], p=0.004), but not between pre-test and delayed post-test. Residents who completed 4 or 5 modules improved from pre-test to post-test in the description component (mean difference 0.46, 95 % CI [0.01, 0.91], p=0.043) and the final diagnosis/treatment component (mean difference 0.69, 95 % CI [0.22, 1.17] p=0.004), but not the deliberate reflection component. Conclusions An interactive, asynchronous clinical reasoning-based dermatology curriculum can improve IM resident knowledge of common dermatologic complaints, particularly immediately after participation and if most modules are completed.
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Seeing what is not there: negative evidence, diagnostic inertia, and the tuberculosis legacy

13. Oktober 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.
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Trends in diagnostic error research across Asia: a quantitative content analysis

7. Januar 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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Learning from what goes right: a safety-II framework for improving diagnosis at the point of care

17. Juli 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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The use of the hemolysis index as an indirect indicator of whole blood sample quality

2. Juli 2025

Stefano Pastori, Vincenzo Roccaforte, Rossella Panella, Erika Jani, Alberto Ponzoni, Marta Spreafico, Giuseppe Lippi, Ruggero Buonocore, Massimo Daves

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Objectives The aim of this study is to assess the discrepancies between potassium values obtained from point-of-care testing and laboratory analyzers, and to propose a straightforward method to indirectly assess the likelihood of hemolysis in whole blood samples. Methods The data were collected from 409 hospitalized patients (199 males, 210 females; median age 78 years, interquartile range 55–87) in whom were simultaneously requested the blood gas profile, including electrolytes (Na, K, Cl and Ca 2+ ) on the GEM Premier 5000 blood gas analyzer and K in plasma samples on the Cobas analytical system. Results The Wilcoxon test showed a significant difference (p<0.0001) for K measurements, with a number of positive differences between Cobas and GEM Premier 5,000 of 110 and negative differences of 293. The median value of the hemolysis index was 7 (95 % CI for the median 6 to 8). The differences between the two K measurements obtained from plasma and whole blood samples showed a lowest and highest differences of −1.7 and 4.6 mmol/L. The median difference was 0.63 (95 % CI for the median: 0.54–0.73) and the interquartile range (IQR) was 0.48–0.9. Overall, 89 samples (21 %) displayed a difference larger than the relative change value. Conclusions The presence of hemolysis in plasma samples should alert laboratory professionals to carefully evaluate the corresponding whole blood results. Concordant values indicate the presence of hemolysis in the whole blood sample, while discordant values suggest that hemolysis only affects one of the two samples.
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Multiple hepatic sclerosing hemangiomas mimicking malignant lesions, a diagnostic dilemma: case report and literature review

7. Oktober 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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Exploring the role of glial fibrillary acid protein and neurofilament light chains in patients with hereditary transthyretin amyloidosis with polyneuropathy

10. Juni 2025

Caterina Maria Gambino, Luisa Agnello, Vincenzo Di Stefano, Fabio Del Ben, Anna Masucci, Martina Tamburello, Roberta Vassallo, Concetta Scazzone, Anna Maria Ciaccio, Filippo Brighina, Marcello Ciaccio

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Objectives Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive neurodegenerative disorder caused by mutations in the transthyretin (TTR) gene. The disease leads to systemic amyloid deposition, primarily affecting the nervous system and, in some cases, the heart. Early diagnosis and monitoring are critical for effective management, yet reliable biomarkers remain limited. This study aimed to investigate the role of serum glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as biomarkers in ATTRv-PN. Methods A retrospective observational study was conducted at the University Hospital Paolo Giaccone, enrolling ATTRv-PN patients, asymptomatic TTR mutation carriers, and healthy blood donors. Serum GFAP and NfL levels were measured using a fully automated immunoassay (Lumipulse G1200). Results A total of 119 participants were included: ATTRv-PN (n=23), carriers (n=27), and healthy controls (n=69). GFAP levels were significantly elevated in ATTRv-PN patients compared to carriers and healthy controls (p<0.001), with the highest levels observed in individuals with the V122I mutation. The median NfL levels were also significantly elevated in ATTRv-PN patients (30.74 pg/mL) compared to carriers (11.59 pg/mL) and healthy controls (12.86 pg/mL) (p<0.001). Additionally, a significant negative correlation was observed between NfL levels and clinical severity scores, indicating its association with disease severity. Conclusions These findings support the usefulness of serum NfL as a prognostic tool in ATTRv-PN and highlight the potential involvement of astrocyte activation in disease pathology. Further longitudinal studies are needed to validate these biomarkers for clinical application.
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When two truths collide: overlapping herpes zoster and leukocytoclastic vasculitis in an atypical presentation

10. November 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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Visual heuristics and basal cell carcinoma: pitfalls and strategies for clinical vigilance

7. Januar 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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The poverty of diagnostic essentialism: reimagining diagnosis in the age of artificial intelligence

29. Juli 2025

Cory Rohlfsen, Andrew S. Parsons

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The pursuit of medical diagnosis has long been shaped by an epistemic framework that assumes diseases have inherent, discoverable essences. This essentialist approach, deeply rooted in Aristotelian thought, has historically guided diagnostic reasoning and classification for over a century. However, the rise of artificial intelligence (AI) is catalyzing a philosophical and practical shift toward nominalism – a framework in which diagnoses are derived from dynamic, data-driven pattern recognition rather than fixed disease categories. This transition, if it occurs, would be revolutionary, exposing core limitations of essentialist thinking and reframing diagnosis as a process rather than a static conclusion. In doing so, it challenges the conventional concept of an ‘endpoint diagnosis’ – the idea that diseases can be definitively and completely categorized. Instead, diagnosis emerges as a contingent narrative point within broader clinical trajectories, calling for a reimagining of diagnostic reasoning in the AI era.
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Pre-analytical interference in point-of-care troponin T testing: a case series

2. September 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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Telehealth triage in pediatric rheumatology: a diagnostically accurate tool to improve access to care

23. Mai 2025

Laura Aisenberg, Irit R. Rasooly, Pamela F. Weiss, Jon Burnham, Anna Costello

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Objectives During the SARS-CoV-2 pandemic, new patient evaluations in pediatric rheumatology were performed using telehealth. Given the pediatric rheumatology workforce shortage, telehealth may be a way to efficiently triage referrals. The objective was to assess the utility of telehealth visits as a diagnostic tool to accurately assess the need for in-person evaluation. Methods This was a retrospective cohort study of patients evaluated by telehealth for a new patient visit from March 1 to June 30, 2020 at a tertiary center. Electronic health record documentation from subsequent rheumatology, specialty, and primary care encounters over the subsequent 4 years were reviewed. The primary outcome was diagnostic concordance, defined as consistency in the documented diagnostic reasoning, between the initial telehealth video visit and in-person follow-up visits. Results During the study period, there were 111 telehealth visits, 80 (72 %) of which had follow-up data. 55/80 had in-person rheumatology evaluations. Only 9 % patients had discordant diagnoses, all of whom had initial concern for inflammatory arthritis during the telehealth visit but a diagnosis of a non-inflammatory condition after in-person evaluation. Nine patients with a significant rheumatic disease were identified via telehealth. There were no unplanned ED visits or hospital admissions following telehealth visits. 33 % of patients were found to not warrant rheumatologic follow-up after the telehealth visit. Conclusions For pediatric rheumatology new patient evaluations, diagnostic accuracy via telehealth evaluation was high. Providers triaged patients with chronic rheumatologic conditions for in-person evaluations and were able to accurately identify benign conditions that did not require in-person follow-up.
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Leveraging diagnostic timeouts to foster interprofessional communication

8. Juli 2025

James Bowen, Brenda Demeritt, Anna J. Ipsaro, Amanda Combs, DeAnna Hawkins, Michaela Hoiles, Angela M. Statile, Michelle Parker

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Objectives Diagnostic errors are a significant source of patient harm, often arising from cognitive biases and communication breakdowns. Diagnostic timeouts (DTOs) offer a structured opportunity to reassess diagnoses, but their implementation is inconsistent. This study aimed to evaluate a nurse-driven DTO framework designed to enhance interprofessional communication and diagnostic accuracy in a pediatric hospital setting. Methods A multidisciplinary committee developed and piloted a DTO framework on a 48-bed pediatric acute care unit. Bedside nurses received structured education on DTOs, and standardized prompts were integrated into nursing workflows to identify patients who may benefit from a DTO. Feasibility and acceptability were assessed through voluntary surveys, post-DTO documentation, and qualitative feedback. Results Among 90 surveyed nurses, 28 % reported that a DTO would have been beneficial for at least one patient in the eight weeks prior to the intervention period. Over six months, 13 nurse-initiated DTOs occurred, with nearly half (46 %) prompting additional workup. Two DTOs led to escalation of care. Qualitative feedback highlighted improved communication, increased psychological safety, and enhanced teamwork. Conclusions Pilot implementation of a formalized nurse-driven DTO framework was well-received, reinforcing its role in structured diagnostic reassessment. Future efforts will expand DTO implementation and evaluate its impact on psychological safety.
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Diagnostic uncertainty in physicians’ reasoning: a structured approach using BANI and GRACE₂

23. Juli 2025

Taro Shimizu

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Diagnostic uncertainty remains a persistent challenge in improving diagnostic practice, particularly for individual physicians. This paper applies the BANI (Brittle, Anxious, Nonlinear, Incomprehensible) framework to examine the nature of uncertainty encountered by physicians. Using clinical case examples, I demonstrate how BANI manifests in the diagnostic process and propose GRACE 2 , a six-element behavioral framework designed to support physicians in managing diagnostic uncertainty. GRACE 2 integrates cognitive flexibility, adaptive reasoning, and empathic communication. Together with BANI, it offers a structured and actionable approach to enhancing physicians’ diagnostic decision-making, thereby contributing to the broader goal of improving diagnostic safety for patients.
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Association between referral letters and diagnostic errors: a single-center, cross-sectional study in general internal medicine in Japan

22. August 2025

Sakura Kamiya, Toshinori Nishizawa, Hiroki Ozawa, Yukinori Harada, Takashi Watari, Taro Shimizu, Madoka Sakurai, Yuya Suzuki, Gautam A. Deshpande, Hiroko Arioka

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Objectives Referral documentation may either contribute to diagnostic excellence or play a role in diagnostic errors (DEs), but its exact impact remains unclear. This study investigates the association between referral documentation and DEs among patients initially evaluated by another hospital or department and subsequently referred to the general internal medicine (GIM) outpatient clinic of an acute care tertiary hospital in Japan. Methods This cross-sectional study analyzed outpatients who visited the GIM outpatient clinic between April 1, 2017 and March 31, 2023. Patients initially evaluated at another medical facility or department, who then visited the GIM outpatient clinic, and were subsequently readmitted unexpectedly within 14 days after GIM outpatient clinic visit were included. DEs were identified using the Revised Safer Dx Instrument. Errors were analyzed using the Diagnostic Error Evaluation and Research (DEER) taxonomy. Logistic regression analysis was performed to assess the relationship between referral letters and DEs. Results Of 80 patients, 29 (36.3 %) experienced DEs. Referral letters were present for 52 (65.0 %) patients. The proportion of DEs was lower in the referred patients compared to non-referred patients (25.0 vs. 57.1 %; p-value=0.004). After adjusting for age, sex, race, multimorbidity, type of previous physicians, and post-graduate year of the GIM physician, the presence of a referral letter was associated with a substantially likelihood of DEs (OR=0.20, 95 % CI: 0.06–0.62, p-value=0.005). Conclusions The presence of a referral letter facilitates accurate diagnoses while markedly reducing DEs. Healthcare systems should consider promoting the proper use of referral systems.
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Unmasking amyloid light-chain amyloidosis through biochemical lens: diagnostic utility of urine immunofixation in serum-negative cases

16. September 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.
Open Access
Creativity and diagnostic reasoning

6. Mai 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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The disproportionate impact of pre-test probability estimation errors: an analysis across different pre-test probability contexts

2. September 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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Incivility in the context of diagnostic safety: a theoretical analysis

12. August 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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Myelin water imaging as a quantitative diagnostic tool for neurodegenerative diseases: a systematic review

16. Juni 2025

Aswathi Puliyakkara, Abhijith Shirlal, Saikiran Pendem, Priyanka, Rajagopal Kadavigere, Thejas S. Marike

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Introduction Neurodegenerative diseases such as multiple Sclerosis (MS), Alzheimer’s disease (AD), and Parkinson’s disease (PD) share overlapping clinical and pathological features, complicating early diagnosis and management. Demyelination, a key pathological hallmark, underscores the importance of accurately assessing white matter (WM) integrity. Content Myelin water imaging (MWI), an advanced non-invasive MRI technique, quantifies the myelin water fraction (MWF) and offers high specificity for detecting myelin abnormalities. This systematic review explores the feasibility and diagnostic utility of MWI across MS, AD, and PD by analyzing 21 high-quality studies from major databases, following PRISMA guidelines. Summary MWI consistently revealed reduced MWF in MS patients across various WM regions, lesion types, and disease stages, including responsiveness to early treatment. In AD, MWF decline correlated with disease progression and apolipoprotein E4 (APOE4) genotype, supporting its potential in early diagnosis. Findings in PD were inconsistent, reflecting secondary or minimal myelin involvement in its pathology. Outlook MWI shows strong promise as a non-invasive imaging biomarker, particularly in MS and AD. Standardization of acquisition protocols, integration with multimodal imaging, and further longitudinal studies are essential to establish its clinical utility and support broader implementation in neurodegenerative disease diagnostics.
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A tailored fit that doesn’t fit all: the problem of threshold overfitting in diagnostic studies

16. September 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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Uncertainty in diagnosis – a young generalist’s perspective on the GRACE² framework

16. September 2025

Yuki Otsuka

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Raised alpha fetoprotein in cirrhotic liver with colorectal liver metastasis mimicking hepatocellular carcinoma: case report and review of literature

13. Januar 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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A framework for defining diagnostically challenging conditions identifiable through electronic algorithms

27. Oktober 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.
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Rooted in reasoning: a clinical reasoning curriculum using diagnostic RCAs

7. Oktober 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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Salivary protein biomarkers for the diagnosis of oral squamous cell carcinoma: a systematic review and meta-analysis

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

26. Januar 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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Managing cognitive load and enhancing metacognitive learning in postgraduate training and practice

13. August 2025

Isaac K.S. Ng, Christine J. Ko, Tow Keang Lim

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The phase of postgraduate medical training and practice is notoriously difficult because junior physicians or medical residents find themselves stuck in a tenuous situation of having to handle newfound heavy clinical work and responsibilities while scaling a steep learning curve on the job. In recent years, increased focus on diagnostic error has led to increasing calls to re-evaluate how clinical reasoning is cultivated in medical training, with emphasis on pedagogical interventions that aim to sharpen clinical judgments while minimising cognitive errors. Against this backdrop, we herein review the concept of “cognitive load” in post-graduate training and clinical practice, and discuss its relevance to effective metacognitive learning amidst clinical duties and to optimisation of medical decision-making in real-world settings by reducing cognitive errors in the form of bias and noise. We then outline pedagogical and workplace-based interventions that may target the twin problem of intrinsic and extrinsic cognitive load in clinical learning and work, and specifically advocate metacognitive-based practices that promote iterative cycles of cognitive schema re-calibration and professional development.
Open Access
Large language models for dermatological image interpretation – a comparative study

23. Mai 2025

Lasse Cirkel, Fabian Lechner, Lukas Alexander Henk, Martin Krusche, Martin C. Hirsch, Michael Hertl, Sebastian Kuhn, Johannes Knitza

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Objectives Interpreting skin findings can be challenging for both laypersons and clinicians. Large language models (LLMs) offer accessible decision support, yet their diagnostic capabilities for dermatological images remain underexplored. This study evaluated the diagnostic performance of LLMs based on image interpretation of common dermatological diseases. Methods A total of 500 dermatological images, encompassing four prevalent skin conditions (psoriasis, vitiligo, erysipelas and rosacea), were used to compare seven multimodal LLMs (GPT-4o, GPT-4o mini, Gemini 1.5 Pro, Gemini 1.5 Flash, Claude 3.5 Sonnet, Llama3.2 90B and 11B). A standardized prompt was used to generate one top diagnosis. Results The highest overall accuracy was achieved by GPT-4o (67.8 %), followed by GPT-4o mini (63.8 %) and Llama3.2 11B (61.4 %). Accuracy varied considerably across conditions, with psoriasis with the highest mean LLM accuracy of 59.2 % and erysipelas demonstrating the lowest accuracy (33.4 %). 11.0 % of all images were misdiagnosed by all LLMs, whereas 11.6 % were correctly diagnosed by all models. Correct diagnoses by all LLMs were linked to clear, disease-specific features, such as sharply demarcated erythematous plaques in psoriasis. Llama3.2 90B was the only LLM to decline diagnosing images, particularly those involving intimate areas of the body. Conclusions LLM performance varied significantly, emphasizing the need for cautious usage. Notably, a free, locally hostable model correctly identified the top diagnosis for approximately two-thirds of all images, demonstrating the potential for safer, locally deployed LLMs. Advancements in model accuracy and the integration of clinical metadata could further enhance accessible and reliable clinical decision support systems.
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Rationalisation of a thrombophilia panel using laboratory medicine Delphi-like consensus evaluation and secondary artificial intelligence-based simulation assessment

13. Januar 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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Global-of-care testing (GOCT): emerging challenges for laboratory medicine network

22. August 2025

Agostino Ognibene, Giuseppe Lippi

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The coronavirus disease 2019 (COVID-19) pandemic has placed laboratory medicine at the forefront of public health and clinical care. Larger use of social media and official communication platforms raised public awareness of laboratory science, driving demand for rapid, accurate diagnostic information and shifting expectations around access and interpretation of testing. Laboratory medicine, rooted in accuracy, precision, reproducibility and clinical relevance, has advanced from basic diagnostics to sophisticated molecular and data-driven platforms. Yet, literature and policy on coordinated international laboratory networks, especially for surveillance and emergency response, remain limited. This opinion paper introduces the concept of “global-of-care testing”, encompassing globally connected diagnostic infrastructures with regional adaptability, robust governance, and sustained investment in technology and workforce. Laboratory network design must account for geography and population density in allocating facilities. Integrated systems require automation capable of interfacing across multiple platforms (preanalytical processing, clinical chemistry, immunochemistry, hematology, coagulation, urinalysis and even molecular diagnostics and mass spectrometry) to optimize workflows, support real-time decision-making, facilitate remote collaboration and maintain rigorous quality assurance. A decentralized yet interconnected model allows peripheral laboratories to actively participate in clinical decision-making through shared protocols, telemedicine and integrated data, ultimately reducing turnaround times, improving responsiveness and enhancing patient-centred care. Embedding Value-Based Laboratory Medicine (VBLM) within this framework ensures that diagnostics are aligned with health outcomes in a multidisciplinary ecosystem organized around patient needs. The future of laboratory medicine will hence depend on evidence-based reforms that integrate technology, reorganize systems and reinforce governance for promoting quality, equitable access and sustainable precision healthcare.

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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

Special Issue: Health Professions Education Special Issue / Issue Editors: Gurpreet Dhaliwal, Andrew Olson, Geeta Singhal

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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

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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

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

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22. Januar 2014

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