Diagnosis最新文献

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.

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.

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.

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.

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.

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.

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.

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.

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?