DiagnosisPub Date : 2024-10-18DOI: 10.1515/dx-2024-0113
Mark L Graber, Bradford D Winters, Roni Matin, Rosann T Cholankeril, Daniel R Murphy, Hardeep Singh, Andrea Bradford
{"title":"Interventions to improve timely cancer diagnosis: an integrative review.","authors":"Mark L Graber, Bradford D Winters, Roni Matin, Rosann T Cholankeril, Daniel R Murphy, Hardeep Singh, Andrea Bradford","doi":"10.1515/dx-2024-0113","DOIUrl":"https://doi.org/10.1515/dx-2024-0113","url":null,"abstract":"<p><p>Cancer will affect more than one in three U.S. residents in their lifetime, and although the diagnosis will be made efficiently in most of these cases, roughly one in five patients will experience a delayed or missed diagnosis. In this integrative review, we focus on missed opportunities in the diagnosis of breast, lung, and colorectal cancer in the ambulatory care environment. From a review of 493 publications, we summarize the current evidence regarding the contributing factors to missed or delayed cancer diagnosis in ambulatory care, as well as evidence to support possible strategies for intervention. Cancer diagnoses are made after follow-up of a positive screening test or an incidental finding, or most commonly, by following up and clarifying non-specific initial presentations to primary care. Breakdowns and delays are unacceptably common in each of these pathways, representing failures to follow-up on abnormal test results, incidental findings, non-specific symptoms, or consults. Interventions aimed at 'closing the loop' represent an opportunity to improve the timeliness of cancer diagnosis and reduce the harm from diagnostic errors. Improving patient engagement, using 'safety netting,' and taking advantage of the functionality offered through health information technology are all viable options to address these problems.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460333","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 : 2024-10-18eCollection Date: 2025-02-01DOI: 10.1515/dx-2024-0099
Ashwin Gupta, Martha Quinn, M Todd Greene, Karen E Fowler, Vineet Chopra
{"title":"Implementation of a bundle to improve diagnosis in hospitalized patients: lessons learned.","authors":"Ashwin Gupta, Martha Quinn, M Todd Greene, Karen E Fowler, Vineet Chopra","doi":"10.1515/dx-2024-0099","DOIUrl":"10.1515/dx-2024-0099","url":null,"abstract":"<p><strong>Objectives: </strong>The inpatient setting is a challenging clinical environment where systems and situational factors predispose clinicians to making diagnostic errors. Environmental complexities limit trialing of interventions to improve diagnostic error in active inpatient clinical settings. Informed by prior work, we piloted a multi-component intervention designed to reduce diagnostic error to understand its feasibility and uptake.</p><p><strong>Methods: </strong>From September 2018 to June 2019, we conducted a prospective, pre-test/post-test pilot study of hospital medicine physicians during admitting shifts at a tertiary-care, academic medical center. Optional intervention components included use of dedicated workspaces, privacy barriers, noise cancelling headphones, application-based breathing exercises, a differential diagnosis expander application, and a checklist to enable a diagnostic pause. Participants rated their confidence in patient diagnoses and completed a survey on intervention component use. Data on provider resource utilization and patient diagnoses were collected, and qualitative interviews were held with a subset of participants in order to better understand experience with the intervention.</p><p><strong>Results: </strong>Data from 37 physicians and 160 patients were included. No intervention component was utilized by more than 50 % of providers, and no differences were noted in diagnostic confidence or number of diagnoses documented pre- vs. post-intervention. Lab utilization increased, but there were no other differences in resource utilization during the intervention. Qualitative feedback highlighted workflow integration challenges, among others, for poor intervention uptake.</p><p><strong>Conclusions: </strong>Our pilot study demonstrated poor feasibility and uptake of an intervention designed to reduce diagnostic error. This study highlights the unique challenges of implementing solutions within busy clinical environments.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"68-73"},"PeriodicalIF":2.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460429","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 : 2024-10-16eCollection Date: 2025-02-01DOI: 10.1515/dx-2023-0109
Nathan Stehouwer, Anastasia Rowland-Seymour, Larry Gruppen, Jeffrey M Albert, Kelli Qua
{"title":"Validity and reliability of Brier scoring for assessment of probabilistic diagnostic reasoning.","authors":"Nathan Stehouwer, Anastasia Rowland-Seymour, Larry Gruppen, Jeffrey M Albert, Kelli Qua","doi":"10.1515/dx-2023-0109","DOIUrl":"10.1515/dx-2023-0109","url":null,"abstract":"<p><strong>Objectives: </strong>Educators need tools for the assessment of clinical reasoning that reflect the ambiguity of real-world practice and measure learners' ability to determine diagnostic likelihood. In this study, the authors describe the use of the Brier score to assess and provide feedback on the quality of probabilistic diagnostic reasoning.</p><p><strong>Methods: </strong>The authors describe a novel format called Diagnostic Forecasting (DxF), in which participants read a brief clinical case and assign a probability to each item on a differential diagnosis, order tests and select a final diagnosis. DxF was piloted in a cohort of senior medical students. DxF evaluated students' answers with Brier scores, which compare probabilistic forecasts with case outcomes. The validity of Brier scores in DxF was assessed by comparison to subsequent decision-making in the game environment of DxF, as well as external criteria including medical knowledge tests and performance on clinical rotations.</p><p><strong>Results: </strong>Brier scores were statistically significantly correlated with diagnostic accuracy (95 % CI -4.4 to -0.44) and with mean scores on the National Board of Medical Examiners (NBME) shelf exams (95 % CI -474.6 to -225.1). Brier scores did not correlate with clerkship grades or performance on a structured clinical skills exam. Reliability as measured by within-student correlation was low.</p><p><strong>Conclusions: </strong>Brier scoring showed evidence for validity as a measurement of medical knowledge and predictor of clinical decision-making. Further work must evaluated the ability of Brier scores to predict clinical and workplace-based outcomes, and develop reliable approaches to measuring probabilistic reasoning.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"53-60"},"PeriodicalIF":2.2,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460334","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 : 2024-10-16eCollection Date: 2025-02-01DOI: 10.1515/dx-2024-0121
Masayuki Amano, Yukinori Harada, Taro Shimizu
{"title":"Impact of disclosing a working diagnosis during simulated patient handoff presentation in the emergency department: correctness matters.","authors":"Masayuki Amano, Yukinori Harada, Taro Shimizu","doi":"10.1515/dx-2024-0121","DOIUrl":"10.1515/dx-2024-0121","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic errors in emergency departments (ED) are a significant concern and exacerbated by cognitive biases during patient handoffs. The timing and accuracy of disclosing working diagnoses during these handoffs potentially influence diagnostic decisions, yet empirical evidence remains limited.</p><p><strong>Materials and methods: </strong>This parallel, quasi-experimental study involved 40 interns from Japanese teaching hospitals, randomly assigned to control or intervention groups. Each group reviewed eight audio-recorded patient handoff scenarios where working diagnoses were disclosed at the start (control) or end (intervention). Four cases presented correct diagnoses, while four featured incorrect ones. The main measure was diagnostic error rate, calculated as the proportion of incorrect post-handoff responses to total questions asked.</p><p><strong>Results: </strong>No significant difference in diagnostic error rates emerged between the control (39.4 %, 63/160) and intervention (38.8 %, 62/160) groups (point estimate -0.6 %; 95 % CI: -11.3-10.1 %, p=0.91). However, a substantial difference was evident between diagnostic errors after correct (20.6 %, 33/160) and incorrect (57.5 %, 92/160) working diagnoses presented (point estimate: 36.9 %; 95 % CI: 27.0-46.8 %, p<0.001). Diagnostic momentum accounted for 52 % (48/92) of errors under incorrect diagnoses.</p><p><strong>Conclusions: </strong>While the timing of working diagnosis disclosure did not significantly alter diagnostic accuracy during ED handoffs, exposure to incorrect diagnoses markedly increased error rates. These findings underscore the imperative to refine diagnostic skills and reconsider ED handoff protocols to mitigate cognitive biases and optimize patient care outcomes.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"61-67"},"PeriodicalIF":2.2,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460428","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 : 2024-09-20eCollection Date: 2025-02-01DOI: 10.1515/dx-2024-0147
Mario Plebani, Martina Zaninotto, Sandro Giannini, Stefania Sella, Maria Fusaro, Giovanni Tripepi, Maurizio Gallieni, Markus Herrmann, Mario Cozzolino
{"title":"Vitamin D assay and supplementation: still debatable issues.","authors":"Mario Plebani, Martina Zaninotto, Sandro Giannini, Stefania Sella, Maria Fusaro, Giovanni Tripepi, Maurizio Gallieni, Markus Herrmann, Mario Cozzolino","doi":"10.1515/dx-2024-0147","DOIUrl":"10.1515/dx-2024-0147","url":null,"abstract":"<p><p>Over the last decades, in addition to the improvement of pathophysiological knowledge regarding the role and mechanisms of action of vitamin D, there has been a progressive advancement in analytical technologies for its measurement, as well as in methodological standardization. A significant number of scientific works, meta-analyses, and guidelines have been published on the importance of vitamin D and the need for supplementation in deficient individuals. However, it appears necessary to clarify the fundamental elements related to the measurement of vitamin D (both at the strictly analytical and post-analytical levels) and the scientific evidence related to the efficacy/safety of supplementation. In particular, there is a need to discuss current recommended levels for deficiency, insufficiency and possible toxicity in the light of evidence from standardization projects. Additionally, given the important interrelations between vitamin D, parathyroid hormone (PTH), and fibroblast growth factor-23 (FGF23), the analytical issues and clinical utility of these biomarkers will be discussed.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"35-44"},"PeriodicalIF":2.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282009","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 diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.","authors":"Kritsada Singha, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen","doi":"10.1515/dx-2024-0114","DOIUrl":"https://doi.org/10.1515/dx-2024-0114","url":null,"abstract":"<p><strong>Objectives: </strong>To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.</p><p><strong>Methods: </strong>Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.</p><p><strong>Results: </strong>Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α<sup>+</sup>-thalassemia (-α<sup>3.7 kb del</sup>) and unknown α<sup>0</sup>-thalassemia in the father and α<sup>0</sup>-thalassemia (--<sup>SEA</sup>) with unknown α<sup>+</sup>-thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for α<sup>0</sup>-thalassemia (--<sup>SEA</sup>/--<sup>SEA</sup>). Further analysis identified that the father carried a rare South African α<sup>0</sup>-thalassemia in combination with α<sup>+</sup>-thalassemia (--<sup>SA</sup>/-α), whereas the mother was a patient with Hb H-Queens Park disease (--<sup>SEA</sup>/αα<sup>QP</sup>). The fetus was, in fact, a compound heterozygote for (--<sup>SA</sup>/--<sup>SEA</sup>).</p><p><strong>Conclusions: </strong>As shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α<sup>0</sup>-thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart's hydrops fetalis syndrome.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282007","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 : 2024-09-17eCollection Date: 2025-02-01DOI: 10.1515/dx-2024-0139
Ivan Gornik, Ivana Lapić, Hana Franić, Bojana Radulović, Lea Miklić, Dunja Rogić
{"title":"Unnecessary repetitions of C-reactive protein and leukocyte count at the emergency department observation unit contribute to higher hospital admission rates.","authors":"Ivan Gornik, Ivana Lapić, Hana Franić, Bojana Radulović, Lea Miklić, Dunja Rogić","doi":"10.1515/dx-2024-0139","DOIUrl":"10.1515/dx-2024-0139","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of the present study was to assess the effect of repeated laboratory measurement of C-reactive protein (CRP) and leukocyte count on the decision whether to admit or dicharge the patient with localized infections who received antibiotics at the Emergency Department (ED) observation unit.</p><p><strong>Methods: </strong>Adult patients with respiratory, urinary tract and abdominal infections, observed at the ED after antibiotic administration, in whom repeated measurements of CRP and leukocyte count were performed within 24 h, were included. They were initially grouped as planned discharge, planned admission and unclear attitude towards admission. Initial and repeated CRP and leukocyte count results, clinical dynamics (improvement, worsening, unchanged) and clinical decision about discharge or admission, were recorded.</p><p><strong>Results: </strong>A total of 1,038 patients were eligible for inclusion. No significant differences in initial CRP and leukocyte count values were observed, nor any association of CRP and leukocyte count changes with clinical dynamics. Among 504 patients eligible for discharge at second laboratory sampling according to clinical dynamics, 54.4 % were further observed or admitted. Discharged patients had an average negative absolute (p<0.001) and relative CRP change (p=0.002). Clinical dynamics, first and second CRP results and absolute CRP change were independently associated with the decision to discharge or further observe/admit.</p><p><strong>Conclusions: </strong>Schematic repetitions of CRP and leukocyte count at the ED observation unit are common, regardless of patients' clinical condition. Clinical judgment remains the main guiding factor to admit or discharge the patient, but repeated CRP testing influences the final decision, contributing to higher admission rates.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"108-114"},"PeriodicalIF":2.2,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282008","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 : 2024-09-17eCollection Date: 2025-02-01DOI: 10.1515/dx-2024-0145
Camilla Mattiuzzi, Brandon M Henry, John G Rizk, Giuseppe Lippi
{"title":"Mpox (monkeypox) diagnostic kits - September 2024.","authors":"Camilla Mattiuzzi, Brandon M Henry, John G Rizk, Giuseppe Lippi","doi":"10.1515/dx-2024-0145","DOIUrl":"10.1515/dx-2024-0145","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"136-137"},"PeriodicalIF":2.2,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282006","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 : 2024-09-03eCollection Date: 2024-11-01DOI: 10.1515/dx-2024-0102
Mark L Graber, Gerard M Castro, Missy Danforth, Jean-Luc Tilly, Pat Croskerry, Rob El-Kareh, Carole Hemmalgarn, Ruth Ryan, Michael P Tozier, Bob Trowbridge, Julie Wright, Laura Zwaan
{"title":"Root cause analysis of cases involving diagnosis.","authors":"Mark L Graber, Gerard M Castro, Missy Danforth, Jean-Luc Tilly, Pat Croskerry, Rob El-Kareh, Carole Hemmalgarn, Ruth Ryan, Michael P Tozier, Bob Trowbridge, Julie Wright, Laura Zwaan","doi":"10.1515/dx-2024-0102","DOIUrl":"10.1515/dx-2024-0102","url":null,"abstract":"<p><p>Diagnostic errors comprise the leading threat to patient safety in healthcare today. Learning how to extract the lessons from cases where diagnosis succeeds or fails is a promising approach to improve diagnostic safety going forward. We present up-to-date and authoritative guidance on how the existing approaches to conducting root cause analyses (RCA's) can be modified to study cases involving diagnosis. There are several diffierences: In cases involving diagnosis, the investigation should begin immediately after the incident, and clinicians involved in the case should be members of the RCA team. The review must include consideration of how the clinical reasoning process went astray (or succeeded), and use a human-factors perspective to consider the system-related contextual factors in the diagnostic process. We present detailed instructions for conducting RCA's of cases involving diagnosis, with advice on how to identify root causes and contributing factors and select appropriate interventions.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"353-368"},"PeriodicalIF":2.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139602","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 : 2024-09-03eCollection Date: 2024-11-01DOI: 10.1515/dx-2024-0061
Yumi Otaka, Yukinori Harada, Andrew Olson, Takuya Aoki, Taro Shimizu
{"title":"Lessons in clinical reasoning - pitfalls, myths, and pearls: a case of persistent dysphagia and patient partnership.","authors":"Yumi Otaka, Yukinori Harada, Andrew Olson, Takuya Aoki, Taro Shimizu","doi":"10.1515/dx-2024-0061","DOIUrl":"10.1515/dx-2024-0061","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic excellence underscores the patient-centered diagnosis and patient engagement in the diagnostic process. In contrast to a patient-centered diagnosis, a doctor-centered diagnosis with a lack of patient engagement may inhibit the diagnostic process due to the lack of responsibility, disrupted information, and increased effect of cognitive biases, particularly in a situation where multiple physicians are involved. In this paper, we suggest a promising idea to enhance patient engagement in the diagnostic process by using written information by a patient about their perspective and experience, which can fill the gaps needed for diagnosis that doctors cannot find alone.</p><p><strong>Case presentation: </strong>A 38-year-old woman developed chest pain, which gradually worsened during the following two years. For two years, she was evaluated in multiple departments; however, no definitive diagnosis was made, and her condition did not improve. During this evaluation, she searched her symptoms and image findings online. She reached a possible diagnosis of 'esophageal achalasia.' Still, she could not tell her concerns to any physicians because she felt that her concerns were not correctly recognized, although she showed her notes that her symptoms were recorded. She finally consulted the department of internal medicine, where her notes and previous test results were thoroughly reviewed. The final diagnosis of esophageal achalasia was confirmed.</p><p><strong>Conclusions: </strong>Doctors must organize an environment where patients can freely express their thoughts, emotions, and ideas regarding their diagnosis. Cogenerating visit notes using patient input through written communication can be a promising idea to facilitate patient engagement in the diagnostic process.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"450-454"},"PeriodicalIF":2.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139601","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}