DiagnosisPub Date : 2025-08-01DOI: 10.1515/dx-2023-0142
Antonio J Dajer, Andrew P J Olson
{"title":"Appendicitis: common and commonly missed - the story of Alice Tapper.","authors":"Antonio J Dajer, Andrew P J Olson","doi":"10.1515/dx-2023-0142","DOIUrl":"https://doi.org/10.1515/dx-2023-0142","url":null,"abstract":"<p><strong>Objectives: </strong>The misdiagnosis of appendicitis remains frequent. Better understanding of its clinical evolution over time would decrease the incidence of misdiagnosis.</p><p><strong>Case presentation: </strong>At the Society to Improve Diagnosis in medicine conference in Cleveland Ohio in October 2023, Alice Tapper and her father, CNN journalist Jake Tapper, presented her case of misdiagnosed appendicitis. Thanks to meticulous notes and a detailed timeline, the case vividly demonstrates the protean nature of appendicitis as well as the cognitive pitfalls of clinicians who treat it.</p><p><strong>Conclusion: </strong>McBurney's point tenderness is over-emphasized as the key to the diagnosis of appendicitis.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759450","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 : 2025-08-01DOI: 10.1515/dx-2025-0063
Jorge Menéndez-Cámara, David Cecilia-López, Lorena García-Lamas, Celia Castillo-Fernández, Luis Matesanz-García, Josué Fernández-Carnero
{"title":"Misdiagnosis in carpal tunnel syndrome: amyloidosis and other red flags. A narrative review.","authors":"Jorge Menéndez-Cámara, David Cecilia-López, Lorena García-Lamas, Celia Castillo-Fernández, Luis Matesanz-García, Josué Fernández-Carnero","doi":"10.1515/dx-2025-0063","DOIUrl":"https://doi.org/10.1515/dx-2025-0063","url":null,"abstract":"<p><strong>Introduction: </strong>Carpal tunnel syndrome (CTS) involves the entrapment of the median nerve at the wrist. Despite acceptable sensitivity and specificity in diagnostics tests, errors persist, leading to unsuccessful treatments, especially when CTS is an early sign of other conditions.</p><p><strong>Content: </strong>This review aims to identify red flags that may manifest as CTS or coexist with it, and to describe their clinical presentations.</p><p><strong>Summary: </strong>A PubMed search (2000-2025) yielded 622 articles, with 24 included in the review. Of these, 12 articles explored CTS and amyloidosis, three with neurological pathologies, three with tumours, two with rheumatic diseases, one with Raynaud's disease, one on CTS in children, and two with other conditions.</p><p><strong>Outlook: </strong>Many conditions can be mistaken for CTS. Given its high prevalence, healthcare professionals must distinguish these to reduce surgical failures and improve early detection of conditions like cardiac amyloidosis or multiple sclerosis.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752671","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 : 2025-07-29DOI: 10.1515/dx-2025-0081
Cory Rohlfsen, Andrew S Parsons
{"title":"The poverty of diagnostic essentialism: reimagining diagnosis in the age of artificial intelligence.","authors":"Cory Rohlfsen, Andrew S Parsons","doi":"10.1515/dx-2025-0081","DOIUrl":"https://doi.org/10.1515/dx-2025-0081","url":null,"abstract":"<p><p>The pursuit of medical diagnosis has long been shaped by an epistemic framework that assumes diseases have inherent, discoverable essences. This essentialist approach, deeply rooted in Aristotelian thought, has historically guided diagnostic reasoning and classification for over a century. However, the rise of artificial intelligence (AI) is catalyzing a philosophical and practical shift toward nominalism - a framework in which diagnoses are derived from dynamic, data-driven pattern recognition rather than fixed disease categories. This transition, if it occurs, would be revolutionary, exposing core limitations of essentialist thinking and reframing diagnosis as a process rather than a static conclusion. In doing so, it challenges the conventional concept of an 'endpoint diagnosis' - the idea that diseases can be definitively and completely categorized. Instead, diagnosis emerges as a contingent narrative point within broader clinical trajectories, calling for a reimagining of diagnostic reasoning in the AI era.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728717","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 : 2025-07-23DOI: 10.1515/dx-2025-0059
Taro Shimizu
{"title":"Diagnostic uncertainty in physicians' reasoning: a structured approach using BANI and GRACE<sub>2</sub>.","authors":"Taro Shimizu","doi":"10.1515/dx-2025-0059","DOIUrl":"10.1515/dx-2025-0059","url":null,"abstract":"<p><p>Diagnostic uncertainty remains a persistent challenge in improving diagnostic practice, particularly for individual physicians. This paper applies the BANI (Brittle, Anxious, Nonlinear, Incomprehensible) framework to examine the nature of uncertainty encountered by physicians. Using clinical case examples, I demonstrate how BANI manifests in the diagnostic process and propose GRACE<sub>2</sub>, a six-element behavioral framework designed to support physicians in managing diagnostic uncertainty. GRACE<sub>2</sub> integrates cognitive flexibility, adaptive reasoning, and empathic communication. Together with BANI, it offers a structured and actionable approach to enhancing physicians' diagnostic decision-making, thereby contributing to the broader goal of improving diagnostic safety for patients.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689522","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 : 2025-07-17DOI: 10.1515/dx-2025-0086
Taro Shimizu
{"title":"Learning from what goes right: a safety-II framework for improving diagnosis at the point of care.","authors":"Taro Shimizu","doi":"10.1515/dx-2025-0086","DOIUrl":"https://doi.org/10.1515/dx-2025-0086","url":null,"abstract":"<p><p>Traditional approaches to improving diagnosis in medicine have focused mainly on identifying and analyzing errors using the Safety-I perspective. Yet, the vast majority of diagnostic encounters are successful, and structured reflection on these positive outcomes remains uncommon in current practice. In this article, I introduce SIDER (Specification, Ishikawa diagram, driver diagram, Engaging the patient and the team, Reflection), a practical protocol designed to embed Safety-II principles into routine diagnostic reflection by encouraging clinicians to learn from what goes right. SIDER guides clinicians through five clear phases: specifying a particularly challenging or instructive case, mapping contributing factors using an Ishikawa diagram, translating those findings into actionable strategies with a driver diagram, engaging the care team and patient to gather collective insights, and concluding with individual reflection to support ongoing calibration and learning. I describe how SIDER enables clinicians to extract broad and transferable lessons from successful but complex diagnostic cases, complementing traditional error analysis and supporting a culture of continuous improvement. By adopting this framework, healthcare teams can expand opportunities for experiential learning, strengthen adaptive expertise, and advance safer diagnostic practice. Future studies are warranted to evaluate the effectiveness of SIDER-guided reflection in enhancing diagnostic performance and improving patient outcomes.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641983","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 : 2025-07-08DOI: 10.1515/dx-2025-0039
James Bowen, Brenda Demeritt, Anna J Ipsaro, Amanda Combs, DeAnna Hawkins, Michaela Hoiles, Angela M Statile, Michelle Parker
{"title":"Leveraging diagnostic timeouts to foster interprofessional communication.","authors":"James Bowen, Brenda Demeritt, Anna J Ipsaro, Amanda Combs, DeAnna Hawkins, Michaela Hoiles, Angela M Statile, Michelle Parker","doi":"10.1515/dx-2025-0039","DOIUrl":"https://doi.org/10.1515/dx-2025-0039","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic errors are a significant source of patient harm, often arising from cognitive biases and communication breakdowns. Diagnostic timeouts (DTOs) offer a structured opportunity to reassess diagnoses, but their implementation is inconsistent. This study aimed to evaluate a nurse-driven DTO framework designed to enhance interprofessional communication and diagnostic accuracy in a pediatric hospital setting.</p><p><strong>Methods: </strong>A multidisciplinary committee developed and piloted a DTO framework on a 48-bed pediatric acute care unit. Bedside nurses received structured education on DTOs, and standardized prompts were integrated into nursing workflows to identify patients who may benefit from a DTO. Feasibility and acceptability were assessed through voluntary surveys, post-DTO documentation, and qualitative feedback.</p><p><strong>Results: </strong>Among 90 surveyed nurses, 28 % reported that a DTO would have been beneficial for at least one patient in the eight weeks prior to the intervention period. Over six months, 13 nurse-initiated DTOs occurred, with nearly half (46 %) prompting additional workup. Two DTOs led to escalation of care. Qualitative feedback highlighted improved communication, increased psychological safety, and enhanced teamwork.</p><p><strong>Conclusions: </strong>Pilot implementation of a formalized nurse-driven DTO framework was well-received, reinforcing its role in structured diagnostic reassessment. Future efforts will expand DTO implementation and evaluate its impact on psychological safety.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575045","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 : 2025-07-08DOI: 10.1515/dx-2025-0065
Ivana Lapić, Josipa Kostelac, Luka Bielen, Ana Vujaklija Brajković, Ivana Rupčić Gračanin, Dunja Rogić, Radovan Radonić
{"title":"Minimizing the discard blood volume from the central venous catheter for routine laboratory testing in adult intensive care unit.","authors":"Ivana Lapić, Josipa Kostelac, Luka Bielen, Ana Vujaklija Brajković, Ivana Rupčić Gračanin, Dunja Rogić, Radovan Radonić","doi":"10.1515/dx-2025-0065","DOIUrl":"https://doi.org/10.1515/dx-2025-0065","url":null,"abstract":"<p><strong>Objectives: </strong>The aim was to reduce blood loss related to laboratory blood sampling by decreasing the discard blood volume from the central venous catheter (CVC) from 10 to 3 mL, and replacing the 3 mL tube for complete blood count (CBC) with a 2 mL tube. A comparison study was performed, and after introduction of this modified protocol the decrease in withdrawn blood was calculated.</p><p><strong>Methods: </strong>In 52 adult inpatients at the ICU 3 mL of blood was discarded from the CVC, and blood was drawn in a 5 mL serum tube and a 2 mL EDTA tube (test samples), followed by subsequent sampling for routine laboratory testing using the same blood tubes (routine samples). In paired test and routine samples, clinical chemistry testing and CBC were performed.</p><p><strong>Results: </strong>High correlations (ρ>0.90) were obtained for the majority of parameters. Small constant difference was obtained for hemoglobin. Small significant biases were observed for hemoglobin, MCHC, albumin, ALT, calcium, chlorides, MCV and glucose, however, being below the biases of the analytical methods. No statistically significant differences between test and routine samples were found for any of the assessed tests (p>0.05). Implementation of the 3 mL discard blood volume protocol and transition to a smaller volume tube for CBC reduced the amount of withdrawn blood by almost half (46 %).</p><p><strong>Conclusions: </strong>The 3 mL discard blood volume from the CVC can be safely used for routine hematology and clinical chemistry testing. The dual approach assessed herein can contribute to reduction of iatrogenic blood loss.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575046","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 : 2025-07-02DOI: 10.1515/dx-2025-0066
Stefano Pastori, Vincenzo Roccaforte, Rossella Panella, Erika Jani, Alberto Ponzoni, Marta Spreafico, Giuseppe Lippi, Ruggero Buonocore, Massimo Daves
{"title":"The use of the hemolysis index as an indirect indicator of whole blood sample quality.","authors":"Stefano Pastori, Vincenzo Roccaforte, Rossella Panella, Erika Jani, Alberto Ponzoni, Marta Spreafico, Giuseppe Lippi, Ruggero Buonocore, Massimo Daves","doi":"10.1515/dx-2025-0066","DOIUrl":"https://doi.org/10.1515/dx-2025-0066","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study is to assess the discrepancies between potassium values obtained from point-of-care testing and laboratory analyzers, and to propose a straightforward method to indirectly assess the likelihood of hemolysis in whole blood samples.</p><p><strong>Methods: </strong>The data were collected from 409 hospitalized patients (199 males, 210 females; median age 78 years, interquartile range 55-87) in whom were simultaneously requested the blood gas profile, including electrolytes (Na, K, Cl and Ca<sup>2+</sup>) on the GEM Premier 5000 blood gas analyzer and K in plasma samples on the Cobas analytical system.</p><p><strong>Results: </strong>The Wilcoxon test showed a significant difference (p<0.0001) for K measurements, with a number of positive differences between Cobas and GEM Premier 5,000 of 110 and negative differences of 293. The median value of the hemolysis index was 7 (95 % CI for the median 6 to 8). The differences between the two K measurements obtained from plasma and whole blood samples showed a lowest and highest differences of -1.7 and 4.6 mmol/L. The median difference was 0.63 (95 % CI for the median: 0.54-0.73) and the interquartile range (IQR) was 0.48-0.9. Overall, 89 samples (21 %) displayed a difference larger than the relative change value.</p><p><strong>Conclusions: </strong>The presence of hemolysis in plasma samples should alert laboratory professionals to carefully evaluate the corresponding whole blood results. Concordant values indicate the presence of hemolysis in the whole blood sample, while discordant values suggest that hemolysis only affects one of the two samples.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526852","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":"Myelin water imaging as a quantitative diagnostic tool for neurodegenerative diseases: a systematic review.","authors":"Aswathi Puliyakkara, Abhijith Shirlal, Saikiran Pendem, Priyanka, Rajagopal Kadavigere, Thejas S Marike","doi":"10.1515/dx-2025-0055","DOIUrl":"https://doi.org/10.1515/dx-2025-0055","url":null,"abstract":"<p><strong>Introduction: </strong>Neurodegenerative diseases such as multiple Sclerosis (MS), Alzheimer's disease (AD), and Parkinson's disease (PD) share overlapping clinical and pathological features, complicating early diagnosis and management. Demyelination, a key pathological hallmark, underscores the importance of accurately assessing white matter (WM) integrity.</p><p><strong>Content: </strong>Myelin water imaging (MWI), an advanced non-invasive MRI technique, quantifies the myelin water fraction (MWF) and offers high specificity for detecting myelin abnormalities. This systematic review explores the feasibility and diagnostic utility of MWI across MS, AD, and PD by analyzing 21 high-quality studies from major databases, following PRISMA guidelines.</p><p><strong>Summary: </strong>MWI consistently revealed reduced MWF in MS patients across various WM regions, lesion types, and disease stages, including responsiveness to early treatment. In AD, MWF decline correlated with disease progression and apolipoprotein E4 (APOE4) genotype, supporting its potential in early diagnosis. Findings in PD were inconsistent, reflecting secondary or minimal myelin involvement in its pathology.</p><p><strong>Outlook: </strong>MWI shows strong promise as a non-invasive imaging biomarker, particularly in MS and AD. Standardization of acquisition protocols, integration with multimodal imaging, and further longitudinal studies are essential to establish its clinical utility and support broader implementation in neurodegenerative disease diagnostics.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526851","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 : 2025-06-10DOI: 10.1515/dx-2025-0042
Caterina Maria Gambino, Luisa Agnello, Vincenzo Di Stefano, Fabio Del Ben, Anna Masucci, Martina Tamburello, Roberta Vassallo, Concetta Scazzone, Anna Maria Ciaccio, Filippo Brighina, Marcello Ciaccio
{"title":"Exploring the role of glial fibrillary acid protein and neurofilament light chains in patients with hereditary transthyretin amyloidosis with polyneuropathy.","authors":"Caterina Maria Gambino, Luisa Agnello, Vincenzo Di Stefano, Fabio Del Ben, Anna Masucci, Martina Tamburello, Roberta Vassallo, Concetta Scazzone, Anna Maria Ciaccio, Filippo Brighina, Marcello Ciaccio","doi":"10.1515/dx-2025-0042","DOIUrl":"https://doi.org/10.1515/dx-2025-0042","url":null,"abstract":"<p><strong>Objectives: </strong>Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive neurodegenerative disorder caused by mutations in the transthyretin (TTR) gene. The disease leads to systemic amyloid deposition, primarily affecting the nervous system and, in some cases, the heart. Early diagnosis and monitoring are critical for effective management, yet reliable biomarkers remain limited. This study aimed to investigate the role of serum glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as biomarkers in ATTRv-PN.</p><p><strong>Methods: </strong>A retrospective observational study was conducted at the University Hospital Paolo Giaccone, enrolling ATTRv-PN patients, asymptomatic TTR mutation carriers, and healthy blood donors. Serum GFAP and NfL levels were measured using a fully automated immunoassay (Lumipulse G1200).</p><p><strong>Results: </strong>A total of 119 participants were included: ATTRv-PN (n=23), carriers (n=27), and healthy controls (n=69). GFAP levels were significantly elevated in ATTRv-PN patients compared to carriers and healthy controls (p<0.001), with the highest levels observed in individuals with the V122I mutation. The median NfL levels were also significantly elevated in ATTRv-PN patients (30.74 pg/mL) compared to carriers (11.59 pg/mL) and healthy controls (12.86 pg/mL) (p<0.001). Additionally, a significant negative correlation was observed between NfL levels and clinical severity scores, indicating its association with disease severity.</p><p><strong>Conclusions: </strong>These findings support the usefulness of serum NfL as a prognostic tool in ATTRv-PN and highlight the potential involvement of astrocyte activation in disease pathology. Further longitudinal studies are needed to validate these biomarkers for clinical application.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246898","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}