DiagnosisPub Date : 2025-04-02DOI: 10.1515/dx-2025-0018
Simone Denitto, Elia Ponchini, Nicola Baratto, Alessandro Lorenzetto, Davide Demonte, Gian Luca Salvagno, Emmanuel J Favaloro, Giuseppe Lippi
{"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}
DiagnosisPub Date : 2025-03-26DOI: 10.1515/dx-2025-0012
Miyo K Chatanaka, Lisa M Avery, Eleftherios P Diamandis
{"title":"Validation of new, circulating biomarkers for gliomas.","authors":"Miyo K Chatanaka, Lisa M Avery, Eleftherios P Diamandis","doi":"10.1515/dx-2025-0012","DOIUrl":"https://doi.org/10.1515/dx-2025-0012","url":null,"abstract":"<p><strong>Objectives: </strong>Biomarkers are useful clinical tools but only a handful of them are used routinely for patient care. Despite intense efforts to discover new, clinically useful biomarkers, very few new circulating biomarkers were implemented in clinical practice in the last 40 years. This is mainly due to rather poor clinical performance. Here, our goal was to validate the performance of a group of newly discovered circulating biomarkers for glioma by comparing our data with data from a paper recently published in Science Advances.</p><p><strong>Methods: </strong>We analyzed our own sets of clinical samples (gliomas (n=30), meningiomas (n=20)) and a different analytical assay (Proximity Extension Assay, OLINK Proteomics) to compare the results of Shen and colleagues.</p><p><strong>Results: </strong>Despite the sophistication of the utilized discovery method by the original investigators, we found that the newly proposed biomarkers for glioma (the best one presumably being SERPINA6) did not perform as originally claimed.</p><p><strong>Conclusions: </strong>Scientific irreproducibility has been extensively discussed in the literature. A large proportion of newly discovered candidate biomarkers likely represent \"false discovery\" and significantly contribute to the propagation of irreproducible results between investigators. One of the best ways to assess the value of any new biomarker is by independent and extensive validation. Based on our previous classification of irreproducible results, we believe that this new work likely represents another example of biomarker false discovery.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709149","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}
DiagnosisPub Date : 2025-03-18DOI: 10.1515/dx-2024-0184
Angelica M Lee, Kirsten R Brown, Steven J Durning, Sami A Abuhamdeh
{"title":"Exploring emergency department providers' uncertainty in neurological clinical reasoning.","authors":"Angelica M Lee, Kirsten R Brown, Steven J Durning, Sami A Abuhamdeh","doi":"10.1515/dx-2024-0184","DOIUrl":"https://doi.org/10.1515/dx-2024-0184","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic and management reasoning of neurological disorders may present unique challenges and uncertainty for clinicians, particularly in emergency department settings. This study aims to assess the level of uncertainty emergency department physicians experience when diagnosing neurological versus non-neurological conditions, and whether this uncertainty extends to the management of neurological conditions. Additionally, the study explores whether clinical experience is related to perceived diagnostic and/or management uncertainty.</p><p><strong>Methods: </strong>Fifty-three emergency department physicians completed a survey measuring diagnostic uncertainty, management uncertainty, and associated anxiety. The survey included clinical vignettes depicting neurological and non-neurological cases, as well as items which assessed perceived diagnostic and management uncertainty across eight different specialties. Statistical analyses included paired samples t-test for comparing uncertainty between neurology and non-neurology cases and a general linear model to assess relationship between clinical experience and uncertainty.</p><p><strong>Results: </strong>Emergency department physicians reported greater diagnostic uncertainty for neurological vignettes compared to non-neurological vignettes (Cohen's d=1.37), as well as greater management uncertainty (Cohen's d=1.41). They also reported greater anxiety when diagnosing neurological cases compared to non-neurological cases (Cohen's d=1.33), as well as greater anxiety when managing them (Cohen's d=0.69). Exploratory analyses indicated that with greater experience, management uncertainty of neurology cases decreased, while diagnostic uncertainty remained unchanged.</p><p><strong>Conclusions: </strong>The results suggest unique diagnostic and management challenges posed by neurological cases in emergency departments, particularly for less experienced providers. Future research could focus on developing interventions to reduce diagnostic and management uncertainty in neurological conditions.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647611","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}
DiagnosisPub Date : 2025-03-18DOI: 10.1515/dx-2024-0179
Keren Eyal, Jan Leonard, Fidelity Dominguez, Kaitlin Widmer, Alexandria Wiersma, Daniel Lam, Joseph A Grubenhoff
{"title":"Racial and ethnic disparities in pediatric emergency department patients with missed opportunities for diagnostic excellence.","authors":"Keren Eyal, Jan Leonard, Fidelity Dominguez, Kaitlin Widmer, Alexandria Wiersma, Daniel Lam, Joseph A Grubenhoff","doi":"10.1515/dx-2024-0179","DOIUrl":"https://doi.org/10.1515/dx-2024-0179","url":null,"abstract":"<p><strong>Objectives: </strong>To compare proportions of pediatric emergency department (PED) patients with missed opportunities for diagnostic excellence (MODEs) by patient race and ethnicity, defined as either White non-Hispanic/Latino (WNH), or non-WNH. In addition, to assess the thoroughness of the PED patient evaluation by patient race and ethnicity.</p><p><strong>Methods: </strong>Electronic trigger (E-trigger) followed by manual screening identified children with unplanned admission within 10 days of an index PED or pediatric urgent care (PUC) encounter from January 2018 through July 2022. Cases with disparate diagnoses at index encounter and hospital discharge were reviewed using the Revised Safer Dx tool to determine the presence of a MODE. Patient race and ethnicity were abstracted from the electronic record. The primary outcome was proportion of MODEs by race and ethnicity, analyzed using univariate comparisons; the secondary outcome was the completeness of the diagnostic evaluation. Independent predictors of MODEs were identified following multivariable logistic regression analysis.</p><p><strong>Results: </strong>A total of 816 patients were screened in for Revised Safer Dx review, and a total of 183 potential MODEs were identified. Non-WNH populations did not differ significantly by proportion of potential MODEs when compared to WNH patients. WNH patients received a higher median number of diagnostic tests (p=0.02), more diagnostic workup (p=0.03), and more frequently had the eventual correct diagnosis initially considered (p=0.02) than non-WNH patients. Race and ethnicity did not significantly affect the odds of a MODE.</p><p><strong>Conclusions: </strong>While race and ethnicity did not predict higher odds of a MODE, non-WNH PED/PUC populations received disparate levels of diagnostic consideration.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647614","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}
DiagnosisPub Date : 2025-03-07DOI: 10.1515/dx-2025-0016
Nicola Cunningham, Helmy Cook, Deborah Leach, Jill Klein, Julia Harrison
{"title":"Demystifying cognitive bias in the diagnostic process for frontline clinicians and educators; new words for old ideas.","authors":"Nicola Cunningham, Helmy Cook, Deborah Leach, Jill Klein, Julia Harrison","doi":"10.1515/dx-2025-0016","DOIUrl":"https://doi.org/10.1515/dx-2025-0016","url":null,"abstract":"<p><p>Diagnostic error is a pervasive problem in healthcare with approximately one-third of adverse events in hospitals attributed to a failure in the diagnostic process. Cognitive biases are systematic, often unconscious, automatic patterns of thought that sometimes skew thinking and are considered a major contributor to diagnostic error. More than 100 different biases have been described that affect clinical decision-making, and the challenge for educators and clinicians is bringing the conceptual knowledge of cognitive bias to the bedside in an applicable and useful way to mitigate the effects of cognitive bias in diagnosis. The language that is commonly used around cognitive bias is technical in nature, often with complicated and nuanced descriptions, so developing a clear understanding of cognitive bias is a task that needs sophisticated language and memory skills as well as clinical reasoning skills. A novel language approach to learning and talking about biases in medicine is to use idioms, short phrases with a particular meaning that differs from the meaning of each word on their own, to simplify the terminology and improve recognition of cognitive bias at the frontline. We present 'The Idiom's Guide to Cognitive Bias', a Table that lists 21 common cognitive biases in the diagnostic process, and defines each, offering a healthcare example and possible explanation for why each occurs. The benefit of The Guide is its practical approach to reinforcing cognitive and medical concepts through the synergy of language and imagery and to demystify cognitive bias in the diagnostic process.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572480","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}
DiagnosisPub Date : 2025-03-03DOI: 10.1515/dx-2024-0160
Noor H Simsam, Rawan Abuhamad, Khalid Azzam
{"title":"Equity-Driven Diagnostic Excellence framework: An upstream approach to minimize risk of diagnostic inequity.","authors":"Noor H Simsam, Rawan Abuhamad, Khalid Azzam","doi":"10.1515/dx-2024-0160","DOIUrl":"https://doi.org/10.1515/dx-2024-0160","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic errors represent the most common and costly preventable patient safety events, with historically marginalized populations disproportionately impacted due to systemic inequities in healthcare. Addressing these disparities requires embedding equity into every facet of the diagnostic process. The aim was to develop, refine, and validate a competency framework for Equity-Driven Diagnostic Excellence (DxEqEx).</p><p><strong>Methods: </strong>A modified Delphi method was used, involving transdisciplinary diverse healthcare system participants, including patient advocates, physicians, nurses, and other healthcare professionals. Participants were guided through multiple rounds of feedback and ratings, assessing the importance, disciplinary relevance, feasibility, skill acquisition level required, granularity, and representativeness of the DxEqEx framework.</p><p><strong>Results: </strong>Sixteen essential competencies have been identified, categorized into three domains: Intrapersonal, Team-based, and Structural. Participants rated the framework with high importance and strong relevance to their respective disciplines. However, the feasibility of implementing the framework varied, largely due to broader challenges within the healthcare system. The competencies were assessed as requiring a proficient skill level according to Dreyfus' model. The final round maintained strong ratings for granularity and representativeness, which supported the final version of the framework.</p><p><strong>Conclusions: </strong>The DxEqEx framework holds significant potential to proactively address the needs of historically marginalized patients throughout the diagnostic process. Future research should focus on participatory, resource-efficient implementation.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536812","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}
DiagnosisPub Date : 2025-02-20DOI: 10.1515/dx-2024-0199
Chijindu A Ukagwu, Joshua C Teichman, Amandeep S Rai, Amrit S Rai, Gary L Yau, Michelle Khan, Rahul A Sharma
{"title":"Diagnostic accuracy of non-mydriatic fundus photography as a triage and telemedicine tool for patients with vision loss.","authors":"Chijindu A Ukagwu, Joshua C Teichman, Amandeep S Rai, Amrit S Rai, Gary L Yau, Michelle Khan, Rahul A Sharma","doi":"10.1515/dx-2024-0199","DOIUrl":"10.1515/dx-2024-0199","url":null,"abstract":"<p><strong>Objectives: </strong>Fundoscopy can be challenging for non-ophthalmologists. For emergency physicians, non-mydriatic fundus photography is superior to other forms of ophthalmoscopy in sensitivity, specificity, and inter-examination agreement. We report on a prospective cross-sectional study evaluating the use of non-mydriatic photography as a triage and telemedicine tool for patients with vision loss in a Canadian emergency setting.</p><p><strong>Methods: </strong>Images of both eyes were obtained by a non-ophthalmologist using a handheld, non-mydriatic fundus camera and shared with a fellowship-trained ophthalmologist without patient context. The reviewer was asked to (1) select the best photo obtained for each eye and rate image quality on a Likert scale, (2) comment on the presence or absence of fundus abnormalities and (3) provide an opinion on whether findings would have changed patient disposition if available at the time of the initial Emergency Department (ED) exam.</p><p><strong>Results: </strong>Of 57 patients evaluated in the ED for vision loss, 22.8 % had a documented fundus examination. 86.8 % of images were deemed to have acceptable quality (Likert scale≥2). Factors limiting image quality included media opacity, pupillary miosis, photosensitivity, and eyelid/periorbital abnormalities. Of patients with relevant abnormalities, 0 % were identified by emergency physicians. In contrast, 37.5 % of patients with relevant findings were identified on review of images alone (specificity=100 %).</p><p><strong>Conclusions: </strong>Fundoscopy is infrequently performed in the emergency setting in patients presenting with vision loss. Non-mydriatic fundus photography is a cost-effective method of fundus examination for non-expert examiners and can be reliably used as a telemedicine tool for remote ophthalmology consultation.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457299","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}
DiagnosisPub Date : 2025-02-07eCollection Date: 2025-05-01DOI: 10.1515/dx-2024-0168
Tancia Pires, Saikiran Pendem, Jaseemudheen M M, Priyanka
{"title":"Technical aspects and clinical applications of synthetic MRI: a scoping review.","authors":"Tancia Pires, Saikiran Pendem, Jaseemudheen M M, Priyanka","doi":"10.1515/dx-2024-0168","DOIUrl":"10.1515/dx-2024-0168","url":null,"abstract":"<p><strong>Introduction: </strong>Synthetic magnetic resonance imaging (SyMRI) is a non-invasive, robust MRI technique that generates multiple contrast-weighted images by acquiring a single MRI sequence within a few minutes, along with quantitative maps, automatic brain segmentation, and volumetry. Since its inception, it has undergone technical advancements and has also been tested for feasibility in various organs and pathological conditions. This scoping review comprehensively pinpoints the critical technical aspects and maps the wide range of clinical applications/benefits of SyMRI.</p><p><strong>Content: </strong>A comprehensive search was conducted across five databases, PubMed, Scopus, Web of Science, Embase, and CINAHL Ultimate, using appropriate keywords related to SyMRI. A total of 99 studies were included after a 2-step screening process. Data related to the technical factors and clinical application was charted.</p><p><strong>Summary: </strong>SyMRI provides quantitative maps and segmentation techniques comparable to conventional MRI and has demonstrated feasibility and applications across neuroimaging, musculoskeletal, abdominal and breast pathologies spanning the entire human lifespan, from prenatal development to advanced age. Certain drawbacks related to image quality have been encountered that can be overcome with technical advances, especially AI-based algorithms.</p><p><strong>Outlook: </strong>SyMRI has immense potential for being incorporated into routine imaging for various pathologies due to its added advantage of providing quantitative measurements for more robust diagnostic and prognostic work-up with faster acquisitions and greater post-processing options.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"163-174"},"PeriodicalIF":2.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364069","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}