Diagnosis最新文献

{"title":"Creativity and diagnostic reasoning.","authors":"Sho Isoda, Taro Shimizu, Tadayuki Hashimoto, Masasi Hattori, Tomio Suzuki","doi":"10.1515/dx-2025-0015","DOIUrl":"https://doi.org/10.1515/dx-2025-0015","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal screening for genetic disorders: updated guidelines, proposed counseling, a holistic approach for primary health care providers in developing countries.","authors":"Shailesh Pande, Vandana Bansal, Geetanjali Sachdeva","doi":"10.1515/dx-2024-0137","DOIUrl":"https://doi.org/10.1515/dx-2024-0137","url":null,"abstract":"<p><p>Prenatal screening (PNS) can be a very effective strategy for identifying the individuals at-risk of genetic disorders. In contrast to prenatal genetic tests, which are very expensive, require special set-ups and expertise, PNS can be of great help in reducing the burden of genetic disorders, especially in the Indian context. During the last 10 years, several advanced PNS tests utilizing new platforms, with comparatively more sensitivity and specificity, have emerged. PNS tests for chromosomal aneuploidies, microdeletion syndromes, hemoglobinopathies, neural tube defects etc. are available. However, primary health care providers need to be made more aware about the availability of different tests, the time point at which these need to be used, appropriateness of these tests to various presentations and interpretation of the result. They need to be periodically informed about the availability, limitations, sensitivity and specificity of different platforms for PNS. Further, there is a need to develop uniform, updated and practical guidelines on PNS and disseminate these to health care providers so as to benefit the mass population. This article compiles information on different types of PNS and prenatal diagnostic tests, commonly required for different genetic conditions. These recommendations may help clinicians and primary healthcare providers in PNS.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A scoping review of fever of unknown origin with normal serum C-reactive protein.","authors":"Yasuhiro Kano, Yukinori Harada, Toshinori Nishizawa, Taro Shimizu","doi":"10.1515/dx-2024-0200","DOIUrl":"https://doi.org/10.1515/dx-2024-0200","url":null,"abstract":"<p><strong>Introduction: </strong>The differential diagnosis of fever of unknown origin (FUO) resembles that of inflammation of unknown origin (IUO), but the concept and differential diagnosis of FUO with no inflammatory laboratory evidence (FUO-NIL) are unknown. The aim was to propose the concept of FUO-NIL and explore its differential diagnosis.</p><p><strong>Content: </strong>The present study is a scoping review of FUO-NIL, defined as FUO with normal serum C-reactive protein (CRP). The PubMed, Embase, CENTRAL, Web of Science, and Google Scholar databases were searched for relevant information. A study was considered eligible for enrolment if the final diagnosis was definitive and the CRP value was clearly noted as normal in each case. The data extracted included the patients' clinical information, final diagnosis, diagnostic tests performed, treatments, and outcomes.</p><p><strong>Summary and outlook: </strong>The full text of 342 of 3,084 articles were reviewed, and 17 articles met the inclusion criteria. The review identified 19 cases that were eligible for quantitative analysis. The disease categories were infection (n=10, 52.6 %), malignancy (n=3, 15.8 %), non-infectious, inflammatory disease (n=4, 21.1 %), and miscellaneous (n=2, 10.5 %). A more specific differential diagnosis included intracellular fungal infection, tuberculosis, malignancy, systemic lupus erythematosus, granulomatous diseases, Fabry disease, hemophagocytic lymphohistiocytosis, and functional hyperthermia. FUO-NIL may have a unique differential diagnosis and have a different etiology from that of inflammatory FUO. In addition to the standard diagnostic work-up for FUO, tailored diagnostic strategies, including checking for a history of animal contact, the presence of hypohidrosis, and psychosocial stressors may be warranted in cases of FUO-NIL.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physicians' prism: illuminating history with structured expertise.","authors":"Taro Shimizu","doi":"10.1515/dx-2025-0003","DOIUrl":"https://doi.org/10.1515/dx-2025-0003","url":null,"abstract":"<p><p>Enhancing the resolution of patient history is crucial for accurate diagnosis and improving patient outcomes. This paper introduces the \"GREAT PRISM\" strategy, a framework to eliminate barriers to reconstructing comprehensive patient history. Grounded in Grid analysis, the analysis organizes patient information along temporal and symptomatic axes to achieve high-resolution narratives for reaching an accurate diagnosis. Techniques such as identifying missing information, uncovering hidden histories, and dissecting temporal patterns are explored. While emphasizing cognitive forcing strategies and practical applications, this method bridges the gap between traditional practices and modern diagnostic approaches, fostering precision in diagnostic excellence from the point-of-care perspective.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with positive findings of deep infection on computed tomography among patients with extremity cellulitis.","authors":"Cynthia E Burke, Owen R Maley, Benjamin Mancini, Sahil Sardesai, Austin B Montgomery, Tonya S King, Donald J Flemming","doi":"10.1515/dx-2024-0156","DOIUrl":"https://doi.org/10.1515/dx-2024-0156","url":null,"abstract":"<p><strong>Objectives: </strong>Cellulitis shares several clinical features with fulminant deep soft tissue infections, creating a diagnostic dilemma for which clinicians are increasingly using cross-sectional diagnostic imaging to resolve. However, the role of imaging in apparent cellulitis is poorly defined. In particular, the clinical utility of CT in extremity cellulitis is underexplored. The purpose of this study was to determine patient and clinical factors that increase likelihood for finding of deep infection on CT among patients with extremity cellulitis.</p><p><strong>Methods: </strong>A retrospective observational study was performed of patients with cellulitis of the extremities who were examined with computed tomography from January 1, 2012 to December 31, 2021. Demographics, medical history, and clinical and laboratory characteristics were collected. The presence of positive findings on CT report was recorded. Repeated measures logistic regression was used to evaluate significant predictors of positive CT.</p><p><strong>Results: </strong>There were 496 eligible patient encounters, and CT was positive for deep infection in 39 cases (7.9 %). Median patient age was 56 years of age, 58.1 % were male, and most patients had a history of diabetes mellitus, history of tobacco use, and/or obesity. Significant predictors for positive CT on multivariable analysis included gas on pre-CT radiographs, febrile leukopenic state, injection drug use, purulence on exam, and white blood cell count extremes. Elevated CRP was also a significant positive predictor on bivariate analysis.</p><p><strong>Conclusions: </strong>Finding a deep infection on CT in a patient with extremity cellulitis is uncommon and is predominantly associated with a high-risk clinical picture, and/or with high index of suspicion based on pre-CT plain films. In the absence of these patient factors or compelling findings on radiographs, CT does not typically provide clinically actionable information for extremity cellulitis and should not be used as part of standard evaluation.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two decades of autopsy-detected diagnostic errors in Japan.","authors":"Kohta Katayama, Tomoharu Suzuki, Maho Adachi-Katayama, Kenji Numata, Yuki Honda, Hiroyuki Nagano, Yuki Hiramatsu, Takashi Watari, Yasuharu Tokuda, Payal K Patel, Yoshiyuki Ohira","doi":"10.1515/dx-2025-0013","DOIUrl":"https://doi.org/10.1515/dx-2025-0013","url":null,"abstract":"<p><strong>Objectives: </strong>Autopsy plays an essential role in detecting diagnostic errors and the findings from autopsies have the potential to reduce future errors. However, there are few reports from Japan on diagnostic errors based on autopsy diagnoses. This study aimed to detail diagnostic errors in autopsy reports in Japan.</p><p><strong>Methods: </strong>This descriptive study utilized the case report abstract database of the Japanese Society of Internal Medicine chapter meetings. Autopsy cases from 2002 to 2022 were included. We defined diagnostic errors as discrepancies in the primary cause of death between autopsy and clinical diagnosis. Diagnostic error cases were also categorized according to the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10). To observe trends, a chi-square test was conducted by dividing the 20 years of data into four groups.</p><p><strong>Results: </strong>Among 1,213 autopsied cases, diagnostic errors occurred in 435 cases (35.9 %; 95 % confidence interval, 33.2-38.6 %). The most frequent category of autopsy-detected diagnostic error cases was neoplasms (147, 33.8 %), followed by infections (131, 30.1 %), and cardiovascular diseases (49, 11.3 %). Over the 20 years, the incidence of diagnostic errors neither increased nor decreased.</p><p><strong>Conclusions: </strong>Diagnostic errors detected in 35.8 % of autopsy cases in Japan. Autopsy is an important quality indicator for identifying diagnostic error.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does management reasoning display context specificity? An exploration of sleep loss and other distracting situational (contextual) factors in clinical reasoning.","authors":"Amanda Sutton, Jacob Collen, Steven J Durning, Eulho Jung","doi":"10.1515/dx-2025-0007","DOIUrl":"https://doi.org/10.1515/dx-2025-0007","url":null,"abstract":"<p><strong>Objectives: </strong>Context specificity occurs when a health professional sees two patients with identical signs and symptoms yet arrives at two different diagnoses due to other existing factors. For example, one patient speaks English as a first language, while the other patient has limited English proficiency. It is not known if context specificity extends beyond diagnosis and also affects management reasoning. Our study explored whether reduced sleep and other distracting contextual factors (e.g., limited English proficiency) lead to context specificity, resulting in suboptimal management reasoning.</p><p><strong>Methods: </strong>Seventeen medical residents participated in a two-month study (consisting of one outpatient and one inpatient rotation), in which their sleep was tracked. After each rotation, participants watched two clinical encounter videos-one with and one without distracting contextual factors-and completed think-aloud interviews for each video discussing their management plans. Interviews were transcribed and assessed for management reasoning themes.</p><p><strong>Results: </strong>Residents (n=17) on outpatient rotations received more sleep than those on inpatient rotations (450.5 min ± 7.13 vs. 425.6 min ± 10.78, p=0.023). Five management reasoning themes were identified: organized knowledge, disorganized knowledge, uncertainty, addressing non-pharmacologic interventions, and addressing patient needs and concerns. There was essentially no difference in the prevalence of utterances of organized knowledge themes between residents with more or less sleep (25 vs. 27 times, p=0.78) or those exposed to contextual factors vs. not exposed (24 vs. 28 times, p=0.58). However, disorganized knowledge themes were observed significantly more frequently in participants exposed to contextual factors (33 vs. 18 times, p=0.036).</p><p><strong>Conclusions: </strong>Residents slept more during outpatient rotations. While sleep alone was not associated with the prevalence of management reasoning themes, residents exposed to videos with distracting contextual factors displayed significantly more instances of disorganized knowledge, supporting the phenomenon of context specificity in management reasoning.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A synthesized differential diagnosis is associated with fewer diagnostic errors compared to an inventorial list.","authors":"Erica K Sheline, Jan Leonard, Rebecca Helmuth, Kaitlin Widmer, Fidelity Dominguez, Mairead Dillon, Lilliam Ambroggio, Joseph A Grubenhoff","doi":"10.1515/dx-2024-0157","DOIUrl":"https://doi.org/10.1515/dx-2024-0157","url":null,"abstract":"<p><strong>Objectives: </strong>Emergency department (ED) encounters carry high risk of diagnostic error. Understanding how providers process information and reach diagnostic conclusions may identify interventions to reduce diagnostic errors. We aimed to determine if pediatric ED notes documenting a simple inventory of alternative diagnoses (inventorial differential diagnosis (DDx)) increased the odds of subsequent diagnostic error compared to encounters where the DDx was explicitly linked to specific data elements in the encounter (synthesized).</p><p><strong>Methods: </strong>This is a cohort study of children 0-22 years who experienced unplanned admission within 10 days of an index pediatric ED or urgent care visit. Documented DDx (inventorial vs. synthesized) in the index visit notes served as the predictor variable. The primary outcome was presence of diagnostic error. Propensity scores were created using patient demographics and complexity and visit acuity. Propensity score matched patients were compared with multivariable conditional logistic regression to assess association between documented DDx and diagnostic error.</p><p><strong>Results: </strong>Propensity scores matched 303 patient pairs of inventorial and synthesized DDx from 869 charts screened in for review. The adjusted odds ratio for diagnostic error at a subsequent unplanned admission was 1.79 (95 % CI 1.17-2.75) when an inventorial DDx was documented relative to synthesized. This finding includes adjustments for the number of diagnostic tests, obtaining a subspecialty consult and number of hospitalizations in the prior 6 months.</p><p><strong>Conclusions: </strong>An inventorial DDx in pediatric emergency medical decision making is associated with significantly higher odds of subsequent diagnostic error, offering an actionable, simple opportunity for all providers to improve patient care.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The value of designating symptoms as \"vague\" in diagnosis.","authors":"Yasutaka Yanagita, Daiki Yokokawa, Kosuke Ishizuka, Rurika Sato, Jumpei Kojima, Yu Li, Shiho Yamashita, Kiyoshi Shikino, Tomoko Tsukamoto, Takanori Uehara, Masatomi Ikusaka","doi":"10.1515/dx-2025-0032","DOIUrl":"https://doi.org/10.1515/dx-2025-0032","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative evaluation of routine coagulation testing on Stago sthemO 301 and Werfen ACL TOP 750.","authors":"Simone Denitto, Elia Ponchini, Nicola Baratto, Alessandro Lorenzetto, Davide Demonte, Gian Luca Salvagno, Emmanuel J Favaloro, Giuseppe Lippi","doi":"10.1515/dx-2025-0018","DOIUrl":"https://doi.org/10.1515/dx-2025-0018","url":null,"abstract":"<p><strong>Objectives: </strong>We performed a comparative evaluation of analytical performance between the novel bench-top Stago sthemO 301 hemostasis analyzer and the Werfen ACL TOP 750 coagulometer using routine plasma samples.</p><p><strong>Methods: </strong>A minimum of 100 fresh plasma samples per test were analyzed using both analytical systems. The tests included prothrombin time (PT) expressed as international normalized ratio (INR) and seconds (s), activated partial thromboplastin time (APTT) in ratio and seconds, fibrinogen, antithrombin and D-dimer. Clotting assays were performed using mechanical clot detection on sthemO and optical detection on ACL TOP. The comparative evaluation included the calculation of Spearman's correlation, Passing-Bablok regression and Bland-Altman plots.</p><p><strong>Results: </strong>Correlation coefficients ranged between 0.76 for APTT to 0.98 for PT-INR and D-dimer, indicating a generally acceptable/good agreement. The regression slopes varied from 0.82 for D-dimer to 1.17 for APTT-s. A significant bias was observed for all tests except antithrombin, with differences for sthemO ranging between -31 % for D-dimer and 13.7 % for PT-s.</p><p><strong>Conclusions: </strong>SthemO demonstrates acceptable global comparability with ACL TOP for routine coagulation testing. Nevertheless, reagent- and method-dependent bias has been observed, which highlight the need for additional harmonization efforts.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}