Diagnosis最新文献_第2页

Diagnostic errors in older patients: a secondary analysis of case reports. 老年患者的诊断错误：病例报告的二次分析。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0073

Kotaro Kunitomo, Yukinori Harada, Takashi Watari, Taku Harada, Taro Shimizu

{"title":"Diagnostic errors in older patients: a secondary analysis of case reports.","authors":"Kotaro Kunitomo, Yukinori Harada, Takashi Watari, Taku Harada, Taro Shimizu","doi":"10.1515/dx-2025-0073","DOIUrl":"https://doi.org/10.1515/dx-2025-0073","url":null,"abstract":"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.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085307","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}

引用次数: 0

A tailored fit that doesn't fit all: the problem of threshold overfitting in diagnostic studies. 不适合所有人的量身定制的拟合：诊断研究中的阈值过拟合问题。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0096

Javier Arredondo Montero

{"title":"A tailored fit that doesn't fit all: the problem of threshold overfitting in diagnostic studies.","authors":"Javier Arredondo Montero","doi":"10.1515/dx-2025-0096","DOIUrl":"https://doi.org/10.1515/dx-2025-0096","url":null,"abstract":"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.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085335","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}

引用次数: 0

Diagnostic excellence: turning to diagnostic performance improvement. 卓越诊断：转向诊断性能的提高。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0107

Andrew Auerbach, Katie Raffel, Irit R Rasooly, Jeffrey Schnipper

{"title":"Diagnostic excellence: turning to diagnostic performance improvement.","authors":"Andrew Auerbach, Katie Raffel, Irit R Rasooly, Jeffrey Schnipper","doi":"10.1515/dx-2025-0107","DOIUrl":"https://doi.org/10.1515/dx-2025-0107","url":null,"abstract":"The field of diagnostic excellence has advanced considerably in the past decade, reframing diagnosis as a patient safety priority and highlighting the prevalence and harms of diagnostic error. Foundational evidence now supports the development of Diagnostic Excellence Programs; organizational initiatives designed to reduce diagnostic errors and improve system-level and individual performance. While early studies established the epidemiology of diagnostic error across inpatient, emergency, and ambulatory care, newer approaches emphasize continuous, systematic surveillance to inform targeted improvements. Emerging frameworks, such as the DEER Taxonomy and root cause or success cause analyses, help classify drivers of both failures and successes in diagnostic processes. Effective programs must address system factors, including electronic health record design, workload, team structures, and communication, while also enhancing individual clinician performance through feedback, diagnostic reflection, cross-checks, and coaching. Patient engagement represents a critical but underdeveloped dimension; strategies such as structured communication frameworks, patient-family advisory councils, and electronic tools co-designed with patients aim to foster shared diagnostic decision-making and improve transparency. Artificial intelligence (AI) holds promise to accelerate measurement, streamline clinical workflows, reduce cognitive load, and support communication, though careful implementation and oversight are required to ensure safety. Ultimately, Diagnostic Excellence Programs will succeed by embedding diagnostic safety into institutional standards of care, providing clinicians with ongoing, psychologically safe opportunities for recalibration, and leveraging AI to scale surveillance and improvement activities.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085373","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}

引用次数: 0

Unmasking amyloid light-chain amyloidosis through biochemical lens: diagnostic utility of urine immunofixation in serum-negative cases. 通过生化透镜揭示淀粉样蛋白轻链淀粉样变性：尿免疫固定在血清阴性病例中的诊断价值。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0062

Lekha Priyadharshini Kamarajan, Ravi Ranjan Kumar Suman, Rajeev Ranjan, Sushil Kumar, Amresh Krishna, Mala Mahto

{"title":"Unmasking amyloid light-chain amyloidosis through biochemical lens: diagnostic utility of urine immunofixation in serum-negative cases.","authors":"Lekha Priyadharshini Kamarajan, Ravi Ranjan Kumar Suman, Rajeev Ranjan, Sushil Kumar, Amresh Krishna, Mala Mahto","doi":"10.1515/dx-2025-0062","DOIUrl":"https://doi.org/10.1515/dx-2025-0062","url":null,"abstract":"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.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085371","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}

引用次数: 0

Rashes and reflection: a novel curriculum using clinical reasoning to teach ambulatory dermatology to internal medicine residents. 皮疹与反思：运用临床推理向内科住院医师教授门诊皮肤科的新课程。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0076

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

{"title":"Rashes and reflection: a novel curriculum using clinical reasoning to teach ambulatory dermatology to internal medicine residents.","authors":"Anne Richardson, Katherine Gavinski, Lauryn Falcone, Scott Rothenberger, Kwonho Jeong, Tanya Nikiforova","doi":"10.1515/dx-2025-0076","DOIUrl":"https://doi.org/10.1515/dx-2025-0076","url":null,"abstract":"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.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085375","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}

引用次数: 0

Uncertainty in diagnosis - a young generalist's perspective on the GRACE² framework. 诊断中的不确定性——一个年轻的多面手对GRACE2框架的看法。

IF 2

Diagnosis Pub Date : 2025-09-16 DOI: 10.1515/dx-2025-0112

Yuki Otsuka

引用次数: 0

Development of a simple diagnostic tool predicting the aseptic nature of a joint effusion: a pragmatic pilot study. 一个简单的诊断工具的发展预测无菌性质的关节积液：一个实用的试点研究。

IF 2

Diagnosis Pub Date : 2025-09-12 DOI: 10.1515/dx-2025-0041

Arthur Vrignaud, Guillaume Direz, Amélie Denis, Emmanuelle Dernis

{"title":"Development of a simple diagnostic tool predicting the aseptic nature of a joint effusion: a pragmatic pilot study.","authors":"Arthur Vrignaud, Guillaume Direz, Amélie Denis, Emmanuelle Dernis","doi":"10.1515/dx-2025-0041","DOIUrl":"https://doi.org/10.1515/dx-2025-0041","url":null,"abstract":"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).","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079935","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}

引用次数: 0

Artificial intelligence and medical diagnosis: past, present and future. 人工智能与医疗诊断：过去、现在和未来。

IF 2

Diagnosis Pub Date : 2025-09-10 DOI: 10.1515/dx-2025-0111

Edward P Hoffer, Cornelius A James, Andrew Wong, Sumant Ranji

引用次数: 0

Pre-analytical interference in point-of-care troponin T testing: a case series. 护理点肌钙蛋白T检测的分析前干扰：一个病例系列。

IF 2

Diagnosis Pub Date : 2025-09-02 DOI: 10.1515/dx-2025-0104

Lekha Priyadharshini Kamarajan, Priyanshu Tripathi, Sushil Kumar, Anupam Bhambhani, Mala Mahto

引用次数: 0

The disproportionate impact of pre-test probability estimation errors: an analysis across different pre-test probability contexts. 预测试概率估计错误的不成比例的影响：跨不同的预测试概率上下文的分析。

IF 2

Diagnosis Pub Date : 2025-09-02 DOI: 10.1515/dx-2025-0033

Matheus Bento de Souza, José Nunes de Alencar

{"title":"The disproportionate impact of pre-test probability estimation errors: an analysis across different pre-test probability contexts.","authors":"Matheus Bento de Souza, José Nunes de Alencar","doi":"10.1515/dx-2025-0033","DOIUrl":"https://doi.org/10.1515/dx-2025-0033","url":null,"abstract":"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.","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946500","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}

引用次数: 0