DiagnosisPub Date : 2025-02-07DOI: 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":"https://doi.org/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":""},"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}
{"title":"Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program.","authors":"Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen","doi":"10.1515/dx-2024-0190","DOIUrl":"https://doi.org/10.1515/dx-2024-0190","url":null,"abstract":"<p><strong>Objectives: </strong>This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.</p><p><strong>Methods: </strong>A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed. Genotypes were defined by DNA analysis.</p><p><strong>Results: </strong>Among 371 fetuses, 36 were non-thalassemic and 29 thalassemia genotypes were identified in the remaining 335 fetuses. Fetuses with β-thalassemia and Hb E traits, homozygous Hb E, and Hb E-β<sup>0</sup>-thalassemia had similar hematological parameters as those of non-thalassemic. However, the levels of Hb A in β-thalassemia and Hb E traits were approximately half of that observed in the non-thalassemic fetuses. As for Hb E, fetuses with a single copy of the β<sup>E</sup>-globin gene in the Hb E trait and Hb E-β<sup>0</sup>-thalassemia had lower Hb E levels as compared to that of the homozygous Hb E. For α-thalassemia, fetuses with one or two α-globin gene defects had small changes in hematological parameters, but variable Hb Bart's levels were observed. Fetuses with Hb H and Hb H-CS diseases had moderate anemia, whereas those with homozygous Hb CS and Hb Bart's hydrops fetalis had severe anemia. Identification of the fetuses with Hb Bart's hydrops fetalis with various genetic interactions allows the exact re-location of electrophoretic mobilities of various embryonic Hbs.</p><p><strong>Conclusions: </strong>This study confirmed the genetic heterogeneity of hemoglobinopathies among the fetuses and fetal blood analysis are useful for presumptive diagnosis of hemoglobinopathies. The results should facilitate a prevention and control program of hemoglobinopathies in the region.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058383","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 : 2025-01-29DOI: 10.1515/dx-2024-0201
Mei Uehara, Toshinori Nishizawa, Hiroko Arioka
{"title":"Reversible systemic vasoconstriction syndrome: a new diagnostic family of generalized vasospasm in multiple organs.","authors":"Mei Uehara, Toshinori Nishizawa, Hiroko Arioka","doi":"10.1515/dx-2024-0201","DOIUrl":"https://doi.org/10.1515/dx-2024-0201","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051728","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":"Overview of dengue diagnostic limitations and potential strategies for improvement.","authors":"Aruna Devi Selvaraj, Anand Ramaian Santhaseela, Elavarasan Tamilmani","doi":"10.1515/dx-2024-0173","DOIUrl":"https://doi.org/10.1515/dx-2024-0173","url":null,"abstract":"<p><strong>Introduction: </strong>Dengue is a viral infection caused by any one of the four related dengue virus (DENV) serotypes, 1-4. DENV is a single-stranded RNA virus belonging to the genus <i>Flavivirus</i>. Dengue can cause a range of symptoms, from mild to severe life-threatening illness. Currently, treatment for DENV is limited to supportive care, with better outcomes achieved through early diagnosis. The WHO has suggested that dengue mortality can be reduced to nearly zero by implementing appropriate clinical management strategies, such as early laboratory diagnosis. This calls for diagnostic approaches that combine high sensitivity and specificity, while also being suitable for point-of-care testing (POCT) in remote locations with minimal staff training and low testing costs.</p><p><strong>Content: </strong>In this paper, we outline the limitations of existing confirmatory dengue diagnostic methods, such as ELISA and RT-PCR, which are time-consuming, expensive, and require skilled personnel. We also highlight alternative strategies to overcome these challenges. Additionally, the paper emphasizes the growing clinical demand for diagnosing severe dengue to reduce the risk of death, which must be addressed by next-generation dengue diagnostic approaches.</p><p><strong>Summary: </strong>We propose the adoption of alternative strategies, such as fluorescence immunoassay (FIA) and chemiluminescence immunoassay (CLIA), which have the potential to overcome the limitations of existing dengue diagnostic methods.</p><p><strong>Outlook: </strong>Improvements in dengue diagnosis, with a specific focus on identifying severe dengue in POCT setting, can help achieve the goal of zero deaths from dengue.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051710","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":"Accuracy of pulse wave velocity for screening coronary artery disease: a systematic review and meta-analysis.","authors":"Carla-Geovanna Lever-Megina, Iván Cavero-Redondo, Celia Álvarez-Bueno, Cristina Morales-Berenkova, Germán Cabeza-Arrebola, Alicia Saz-Lara","doi":"10.1515/dx-2024-0193","DOIUrl":"10.1515/dx-2024-0193","url":null,"abstract":"<p><p>Coronary artery disease (CAD) is the leading cause of cardiovascular events and showed high prevalence and healthcare costs in 2019. However, CAD screening for cardiovascular event prevention is invasive and expensive. This study aims to estimate the ability of a noninvasive method, pulse wave velocity (PWV), to detect the presence or absence of coronary artery disease in patients with suspected CAD. A systematic review and meta-analysis of the available evidence was conducted, comparing PWV with the gold standard diagnostic method, angiography. The literature search was systematically performed in the PubMed, Scopus and Web of Science databases from inception to August 2024. Study quality assessment was performed using the Diagnostic Accuracy Study Quality Assessment Tool (QUADAS-2). Publication bias was assessed using the method proposed by Deeks. Statistical analyses were performed with the STATA SE software, version 15. The eight included studies had a cross-sectional design, in which the presence of CAD was measured simultaneously by PWV and angiography. To assess the accuracy of the tests, the overall sensitivity and specificity were combined into a single value, the diagnostic odds ratio (dOR), which provided a value of 3.61, indicating a high probability of detecting CAD by PWV. The implementation of PWV as a screening technique in healthcare centers could bring great benefits to patients with suspected CAD and increase efficiency in the use of healthcare resources.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001919","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 : 2025-01-09DOI: 10.1515/dx-2024-0144
Cassandra Siffert, François Romanet, Marion Desmazières, Priscilla Drault, Géraud Gourjon
{"title":"Cognitive biases in osteopathic diagnosis: a mixed study among French osteopaths.","authors":"Cassandra Siffert, François Romanet, Marion Desmazières, Priscilla Drault, Géraud Gourjon","doi":"10.1515/dx-2024-0144","DOIUrl":"https://doi.org/10.1515/dx-2024-0144","url":null,"abstract":"<p><strong>Objectives: </strong>Although cognitive biases are one of the most frequent causes of diagnostic errors, their influence remains underestimated in allied health professions, especially in osteopathy. Yet, a part of osteopathic clinical reasoning and diagnosis rely on the practitioner's intuition and subjective haptic perceptions. The aim of this study is to highlight links between the cognitive biases perceived by the practitioner to understand cognitive patterns during osteopathic diagnosis, and to suggest debiasing strategies.</p><p><strong>Methods: </strong>A mixed method based on an explanatory sequential type is used. (QUAN→QUAL). A quantitative cross-sectional survey of 272 French osteopaths and three focus groups including 24 osteopaths were carried out. The quantitative analysis includes multinominal logistic regression models and multiple correspondence analysis. The qualitative analysis is based on the framework method (within thematic analysis) and followed a step-by-step guide (Gale et al.).</p><p><strong>Results: </strong>Among 19 selected biases, osteopaths feel to be affected by 9.4 ± 0.28 biases (range [1-19], median=9). Some presumed biases would be associated, and socio-demographic (gender, age) and professional (experience and types of practice) factors would modify how practitioners perceive the presence of biases. Main debiasing solutions are supervision and transcultural clinical competences.</p><p><strong>Conclusions: </strong>Osteopaths believe their diagnosis is impaired by the presence of cognitive biases as observed in clinical reality. Some biases are shared with medical doctors, but others are more specific to osteopaths, such as confirmation bias. To reduce their effect, the practitioner needs to be aware of these cognitive patterns of clinical reasoning, understand the patient and himself better, and use objective tests.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946432","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 : 2025-01-08DOI: 10.1515/dx-2024-0122
James G Boyle, Matthew R Walters, Fiona M Burton, Catherine Paton, Martin Hughes, Susan Jamieson, Steven J Durning
{"title":"On context specificity and management reasoning: moving beyond diagnosis.","authors":"James G Boyle, Matthew R Walters, Fiona M Burton, Catherine Paton, Martin Hughes, Susan Jamieson, Steven J Durning","doi":"10.1515/dx-2024-0122","DOIUrl":"https://doi.org/10.1515/dx-2024-0122","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnostic error is a global emergency. Context specificity is likely a source of the alarming rate of error and refers to the vexing phenomenon whereby a physician can see two patients with the same presenting complaint, identical history and examination findings, but due to the presence of contextual factors, decides on two different diagnoses. Studies have not empirically addressed the potential role of context specificity in management reasoning and errors with a diagnosis may not consistently translate to actual patient care.</p><p><strong>Methods: </strong>We investigated the effect of context specificity on management reasoning in individuals working within a simulated internal medicine environment. Participants completed two ten minute back to back common encounters. The clinical content of each encounter was identical. One encounter featured the presence of carefully controlled contextual factors (CF+ vs. CF-) designed to distract from the correct diagnosis and management. Immediately after each encounter participants completed a post encounter form.</p><p><strong>Results: </strong>Twenty senior medical students participated. The leading diagnosis score was higher (mean 0.88; SEM 0.07) for the CF- encounter compared with the CF+ encounter (0.58; 0.1; 95 % CI 0.04-0.56; p=0.02). Management reasoning scores were higher (mean 5.48; SEM 0.66) for the CF- encounter compared with the CF+ encounter (3.5; 0.56; 95 % CI 0.69-3.26; p=0.01). We demonstrated context specificity in both diagnostic and management reasoning.</p><p><strong>Conclusions: </strong>This study is the first to empirically demonstrate that management reasoning, which directly impacts the patient, is also influenced by context specificity, providing additional evidence of context specificity's role in unwanted variance in health care.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946442","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 : 2025-01-06DOI: 10.1515/dx-2024-0165
Jozsef Kiraly, Andras Berzi, Robert El-Kareh, Eniko Sebestyen, Dora Ujvarosy, Miklos Emri, Harjit Pal Bhattoa, Janos Kappelmayer, Kristen E Miller, Gabor Toth
{"title":"Breaking the guidelines: how financial unawareness fuels guideline deviations and inefficient DVT diagnostics.","authors":"Jozsef Kiraly, Andras Berzi, Robert El-Kareh, Eniko Sebestyen, Dora Ujvarosy, Miklos Emri, Harjit Pal Bhattoa, Janos Kappelmayer, Kristen E Miller, Gabor Toth","doi":"10.1515/dx-2024-0165","DOIUrl":"https://doi.org/10.1515/dx-2024-0165","url":null,"abstract":"<p><strong>Objectives: </strong>To examine factors impacting diagnostic evaluation of suspected deep vein thrombosis (DVT) by analyzing the test ordering patterns and provider decision-making within a universal health coverage system in Hungary.</p><p><strong>Methods: </strong>We analyzed test orders for suspected DVT between 2007 and 2020, and the financial framework influencing diagnostic practices. An anonymous survey was also conducted among Emergency Department physicians to explore factors influencing diagnostic decision-making.</p><p><strong>Results: </strong>A total of 6,821 patients were identified. From 2008 to 2013, the most common diagnostic approach combined D-dimer and duplex ultrasound tests (64.5 %), followed by sole ultrasound (20.5 %) and sole D-dimer (15 %) testing. A marked shift occurred from 2014 onward, with sole ultrasound rising to 88 % of cases by 2018-2020, while combined testing and sole D-dimer orders decreased to 7.9 and 4 %, respectively. In survey results, time efficiency emerged as a key factor for bypassing D-dimer testing, cited by 75 % of physicians. 45 % believed D-dimer costs were comparable to or higher than duplex ultrasound. Financial analysis revealed that the outdated performance points system misrepresented actual costs, resulting in duplex ultrasound being significantly underfunded, which impacts the Radiology Department. This discrepancy contributes to higher national level expenses, driven by the increased reliance on ultrasound.</p><p><strong>Conclusions: </strong>We found diagnostic practices deviating from international diagnostic guidelines, with an increase in duplex ultrasound over D-dimer. This shift, allowed by an outdated financing structure, increases overall costs for the healthcare system. Revising financial frameworks to reflect true costs is essential for sustainable operations in universal health coverage systems.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926591","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 : 2025-01-06DOI: 10.1515/dx-2024-0181
Katherine Gavinski, Deborah DiNardo, Scott D Rothenberger, Eliana Bonifacino
{"title":"Using language to evaluate curricular impact: a novel approach in assessing clinical reasoning curricula.","authors":"Katherine Gavinski, Deborah DiNardo, Scott D Rothenberger, Eliana Bonifacino","doi":"10.1515/dx-2024-0181","DOIUrl":"https://doi.org/10.1515/dx-2024-0181","url":null,"abstract":"<p><strong>Objectives: </strong>Published clinical reasoning curricula are limited, and measuring curricular impact has proven difficult. This study aims to evaluate the impact of a broad-reaching, multi-level reasoning curricula by measuring utilization of clinical reasoning terminology in published abstracts.</p><p><strong>Methods: </strong>In 2014, the University of Pittsburgh Medical Center (UPMC) created a clinical reasoning curriculum with interventions at the student, resident, and faculty levels with the goal of bringing reasoning education to the forefront. This study was a retrospective analysis of published clinical vignettes of the Society of General Internal Medicine prior to local curricular intervention (2014), post-curricular intervention (2018), and on follow-up (2022). UPMC-affiliated abstracts were compared to abstracts containing reasoning terms from all other institutions, at each time point.</p><p><strong>Results: </strong>There was a statistically significant increase in the use of clinical reasoning terms by UPMC-affiliated participants from 2014 to 2018. Non-UPMC submissions, saw a smaller, but still significant increase in the use of clinical reasoning terms. There was a decline in clinical reasoning term use from 2018 to 2022, both at UPMC and nationally.</p><p><strong>Conclusions: </strong>This study demonstrates that widespread clinical reasoning curricula can increase interest in and use of clinical reasoning terminology. Further work is needed to develop creative assessment tools for reasoning curricula.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926523","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}