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Racial and ethnic disparities in pediatric emergency department patients with missed opportunities for diagnostic excellence. 儿童急诊科患者错失卓越诊断机会的种族和民族差异
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-18 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2024-0179
Keren Eyal, Jan Leonard, Fidelity Dominguez, Kaitlin Widmer, Alexandria Wiersma, Daniel Lam, Joseph A Grubenhoff

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: While race and ethnicity did not predict higher odds of a MODE, non-WNH PED/PUC populations received disparate levels of diagnostic consideration.

目的比较不同种族和族裔(定义为非西班牙裔/拉美裔白人(WNH)或非WNH)的儿科急诊室(PED)患者错过最佳诊断机会(MODE)的比例。此外,按患者的种族和族裔评估 PED 患者评估的彻底性:从 2018 年 1 月到 2022 年 7 月,通过电子触发(E-trigger)和人工筛查确定了在 PED 或儿科急诊(PUC)就诊后 10 天内计划外入院的儿童。使用 "修订版更安全的诊断"(Revised Safer Dx)工具审查了索引病例和出院诊断不一致的病例,以确定是否存在 MODE。从电子病历中抽取患者的种族和民族。主要结果是按种族和民族划分的 MODE 比例,采用单变量比较法进行分析;次要结果是诊断评估的完整性。多变量逻辑回归分析确定了 MODE 的独立预测因素:共有 816 名患者接受了修订版安全诊断审查,共发现 183 个潜在 MODE。与WNH患者相比,非WNH人群的潜在MODE比例没有显著差异。与非 WNH 患者相比,WNH 患者接受诊断测试的中位数更高(p=0.02),诊断工作更多 (p=0.03),最初考虑的最终正确诊断更频繁(p=0.02)。种族和民族对 MODE 的几率没有明显影响:结论:虽然种族和民族并不能预测更高的 MODE 发生几率,但非 WNH PED/PUC 群体得到的诊断考虑程度不同。
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引用次数: 0
Demystifying cognitive bias in the diagnostic process for frontline clinicians and educators; new words for old ideas. 为一线临床医生和教育工作者揭开诊断过程中认知偏见的神秘面纱;用新词代替旧思想。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-07 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2025-0016
Nicola Cunningham, Helmy Cook, Deborah Leach, Jill Klein, Julia Harrison

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.

诊断错误是医疗保健中普遍存在的问题,医院中大约三分之一的不良事件归因于诊断过程中的失败。认知偏差是系统的,通常是无意识的,自动的思维模式,有时会扭曲思维,被认为是诊断错误的主要原因。已有超过100种不同的偏见被描述为影响临床决策,教育工作者和临床医生面临的挑战是以一种适用和有用的方式将认知偏见的概念性知识带到床边,以减轻诊断中的认知偏见的影响。通常围绕认知偏见使用的语言本质上是技术性的,通常带有复杂和微妙的描述,因此,对认知偏见进行清晰的理解是一项需要复杂的语言和记忆技能以及临床推理技能的任务。学习和谈论医学偏见的一种新颖的语言方法是使用习语,即具有特定含义的短语,这些短语与每个单词的含义不同,以简化术语并提高一线人员对认知偏见的认识。我们提出了“习语认知偏差指南”,这是一个表,列出了诊断过程中21种常见的认知偏差,并对每种偏差进行了定义,提供了一个医疗保健示例,并可能解释每种偏差发生的原因。《指南》的好处在于,它通过语言和意象的协同作用,切实加强了认知和医学概念,并消除了诊断过程中的认知偏见。
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引用次数: 0
Equity-Driven Diagnostic Excellence framework: An upstream approach to minimize risk of diagnostic inequity. 公平驱动的卓越诊断框架:将诊断不公平风险降至最低的上游方法。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-03 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2024-0160
Noor H Simsam, Rawan Abuhamad, Khalid Azzam

Objectives: 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).

Methods: 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.

Results: 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.

Conclusions: 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.

诊断错误是最常见和最昂贵的可预防的患者安全事件,由于医疗保健系统的不公平,历史上边缘化的人群受到不成比例的影响。解决这些差异需要将公平纳入诊断过程的各个方面。其目的是开发、完善和验证股权驱动卓越诊断(DxEqEx)的能力框架。方法:采用改进的德尔菲法,涉及跨学科的不同医疗保健系统参与者,包括患者倡导者、医生、护士和其他医疗保健专业人员。参与者被引导通过多轮反馈和评级,评估DxEqEx框架的重要性、学科相关性、可行性、所需技能获取水平、粒度和代表性。结果:已经确定了16种基本能力,并将其分为三个领域:内部人能力、团队能力和结构能力。与会者认为该框架非常重要,与他们各自的学科密切相关。然而,实施该框架的可行性各不相同,主要是由于医疗保健系统内更广泛的挑战。根据Dreyfus的模型,这些能力被评估为需要熟练的技能水平。最后一轮对粒度和代表性保持了很高的评级,这支持了框架的最终版本。结论:DxEqEx框架具有巨大的潜力,可以在整个诊断过程中主动解决历史上边缘化患者的需求。未来的研究应侧重于参与性、资源效率的实施。
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引用次数: 0
Development and assessment of autoverification system for routine coagulation assays in inpatient and outpatient settings of tertiary care hospital: algorithm performance and impact on laboratory efficiency. 三级医院住院和门诊常规凝血检测自动验证系统的开发和评估:算法性能和对实验室效率的影响。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-03 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2025-0004
Orakan Limpornpugdee, Surapat Tanticharoenkarn, Tapakorn Thepnarin, Manissara Yeekaday, Pitchayaporn Riyagoon, Waroonkarn Laiklang, Piyapat Limprapassorn, Eakachai Prompetchara

Objectives: This study aimed to develop and implement autoverification (AV) system for routine coagulation assays, specifically prothrombin time (PT) and activated partial thromboplastin time (APTT), in tertiary care hospital. The efficiency, accuracy, and impact on turnaround time (TAT) were evaluated.

Methods: AV rules were developed using historical data from 70,865 coagulation test results. The rules included pre-analytical, analytical, and post-analytical checks. The system underwent validation through data simulations, pilot phase, go-live implementation. Performance metrics included sensitivity, specificity, predictive values, passing rates, error rates, TAT.

Results: The AV system achieved 63.3 % overall passing rate (analyzed from 159,183 data), with outpatient settings showing higher rate (69.2 %) than inpatient settings (56.3 %). Final performance evaluation showed sensitivity, specificity, PPV, and NPV of 93.0 , 65.0, 59.7, and 94.4 %, respectively. Manual verification was required for 36 % of cases, mainly due to defective sample volumes (21.5 %). False negatives, primarily from partial clots, occurred in 0.1 % of cases. Integrating CBC clot alerts into AV rules halved the errors. The system increased tests completed within guaranteed TAT of 90 min by 2.4 %, from 89.7 to 92.1 % and reduced median TAT by 5 min. Outpatient TAT improved significantly, with a reduction over 19 min.

Conclusions: The AV system for APTT and PT tests was successfully implemented, reducing manual verification, improving TAT, particularly in outpatient settings. This study highlights AV systems' potential to enhance laboratory performance for routine coagulation panels, which rely only on APTT and PT assays. Ongoing rule refinement and monitoring remain crucial for enhancing system accuracy and effectiveness.

目的:本研究旨在开发和实施自动验证(AV)系统的常规凝血测定,特别是凝血酶原时间(PT)和活化部分凝血活素时间(APTT),在三级医院。评估了效率、准确性和对周转时间(TAT)的影响。方法:根据70,865例凝血试验结果的历史数据制定AV规则。这些规则包括分析前、分析后和分析后的检查。该系统通过数据模拟、试验阶段和投入使用进行了验证。性能指标包括灵敏度、特异性、预测值、通过率、错误率、TAT。结果:AV系统的总通过率达到63.3 %(从159,183个数据中分析),门诊的通过率(69.2 %)高于住院的(56.3% %)。最终性能评价显示,敏感性、特异性、PPV和NPV分别为93.0 、65.0、59.7%和94.4 %。36% %的病例需要人工验证,主要是由于有缺陷的样品量(21.5% %)。假阴性,主要来自部分血块,发生在0.1% %的病例。将CBC血块警报整合到AV规则中使错误减少了一半。该系统将保证TAT为90 min的测试完成率提高了2.4 %,从89.7%提高到92.1 %,并将中位TAT降低了5 min。门诊TAT显著改善,降低了19 min以上。结论:用于APTT和PT测试的AV系统成功实施,减少了人工验证,提高了TAT,特别是在门诊环境中。这项研究强调了AV系统的潜力,以提高常规凝血板的实验室性能,这只依赖于APTT和PT分析。持续的规则细化和监控对于提高系统的准确性和有效性仍然至关重要。
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引用次数: 0
Diagnostic accuracy of non-mydriatic fundus photography as a triage and telemedicine tool for patients with vision loss. 非散瞳眼底摄影作为视力丧失患者分诊和远程医疗工具的诊断准确性。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-02-20 eCollection Date: 2025-08-01 DOI: 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

Objectives: 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.

Methods: 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.

Results: 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 %).

Conclusions: 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.

目的:眼底镜检查对非眼科医生具有挑战性。对于急诊医生来说,非散瞳眼底摄影在敏感性、特异性和检查间一致性方面优于其他形式的检眼镜。我们报告了一项前瞻性横断面研究,评估在加拿大紧急情况下使用非散瞳摄影作为视力丧失患者的分诊和远程医疗工具。方法:双眼图像由一名非眼科医生使用手持式无散瞳眼底相机获得,并与一名接受过奖学金培训的眼科医生共享,没有患者背景。审稿人被要求(1)为每只眼睛选择获得的最佳照片,并根据李克特量表对图像质量进行评分;(2)对眼底异常的存在与否进行评论;(3)就这些发现是否会改变患者的性格提供意见,如果在最初的急诊检查(ED)时可用。结果:在ED评估的57例视力丧失患者中,22.8% %有记录的眼底检查。86.8 %的图像质量可接受(李克特量表≥2)。影响图像质量的因素包括介质不透明、瞳孔缩小、光敏性和眼睑/眶周异常。在相关异常的患者中,0 %是由急诊医生发现的。相比之下,37.5% %的患者仅通过检查图像就能识别出相关发现(特异性=100 %)。结论:在出现视力丧失的患者急诊情况下很少进行眼底镜检查。对于非专业检查人员来说,无散瞳眼底摄影是一种经济有效的眼底检查方法,可以可靠地用作远程眼科会诊的远程医疗工具。
{"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":"402-408"},"PeriodicalIF":2.0,"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}
引用次数: 0
Pioneering diagnosis in Asia: advancing clinical reasoning expertise through the lens of 3M. 在亚洲开拓诊断:通过3M的视角推进临床推理专业知识。
IF 2.2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-02-10 eCollection Date: 2025-05-01 DOI: 10.1515/dx-2024-0205
Taro Shimizu, Satoshi Watanuki, Yukinori Harada, Ren Kawamura, Masayuki Amano, Sho Isoda, Kotaro Kunitomo, Mamoru Komatsu, Taiju Miyagami, Kosuke Ishizuka, Shintaro Kosaka, Masaru Kurihara
{"title":"Pioneering diagnosis in Asia: advancing clinical reasoning expertise through the lens of 3M.","authors":"Taro Shimizu, Satoshi Watanuki, Yukinori Harada, Ren Kawamura, Masayuki Amano, Sho Isoda, Kotaro Kunitomo, Mamoru Komatsu, Taiju Miyagami, Kosuke Ishizuka, Shintaro Kosaka, Masaru Kurihara","doi":"10.1515/dx-2024-0205","DOIUrl":"10.1515/dx-2024-0205","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"145-148"},"PeriodicalIF":2.2,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364066","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
Technical aspects and clinical applications of synthetic MRI: a scoping review. 合成MRI的技术方面和临床应用:范围综述。
IF 2.2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-02-07 eCollection Date: 2025-05-01 DOI: 10.1515/dx-2024-0168
Tancia Pires, Saikiran Pendem, Jaseemudheen M M, Priyanka

Introduction: 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.

Content: 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.

Summary: 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.

Outlook: 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.

简介:合成磁共振成像(SyMRI)是一种非侵入性、鲁棒性的MRI技术,通过在几分钟内获取单个MRI序列,以及定量图、自动脑分割和体积测定,生成多个对比加权图像。自诞生以来,它经历了技术进步,并在各种器官和病理条件下进行了可行性测试。这篇范围综述全面地指出了关键的技术方面,并绘制了SyMRI广泛的临床应用/益处。内容:在PubMed, Scopus, Web of Science, Embase和CINAHL Ultimate五个数据库中进行了全面的搜索,使用与SyMRI相关的适当关键字。经过两步筛选,总共纳入了99项研究。将技术因素和临床应用相关数据绘制成图表。总结:SyMRI提供了与传统MRI相当的定量图和分割技术,并已证明了在整个人类生命周期(从产前发育到老年)的神经成像、肌肉骨骼、腹部和乳房病理方面的可行性和应用。与图像质量相关的某些缺陷可以通过技术进步来克服,特别是基于人工智能的算法。展望:SyMRI具有巨大的潜力,可用于各种病理的常规成像,因为它具有额外的优势,可以提供更可靠的诊断和预后工作的定量测量,具有更快的采集和更多的后处理选择。
{"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}
引用次数: 0
Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program. 各种血红蛋白病的胎儿血液学表型和毛细管电泳胚胎血红蛋白的证明:来自产前筛查计划的大队列数据。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2024-0190
Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen

Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.

Methods: 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.

Results: 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-β0-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 βE-globin gene in the Hb E trait and Hb E-β0-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.

Conclusions: 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.

目的:本研究报道了一大批不同血红蛋白病的胎儿血液分析。方法:收集371例胎儿血液标本。采用毛细管电泳进行全血细胞计数和血红蛋白(Hb)分析。通过DNA分析确定基因型。结果:371例胎儿中,36例为非地中海贫血,其余335例胎儿中鉴定出29例地中海贫血基因型。具有β-地中海贫血和Hb E性状、纯合子Hb E和Hb E-β0-地中海贫血的胎儿血液学参数与非地中海贫血的胎儿相似。然而,β-地中海贫血和Hb E特征中的Hb A水平约为非地中海贫血胎儿的一半。在Hb E方面,Hb E性状和Hb E-β0-地中海贫血中具有单拷贝βE-珠蛋白基因的胎儿Hb E水平低于纯合子Hb E。对于α-地中海贫血,具有一个或两个α-珠蛋白基因缺陷的胎儿血液学参数变化较小,但Hb Bart水平变化较大。患有Hb H和Hb H-CS疾病的胎儿患有中度贫血,而患有纯合子Hb CS和Hb Bart's水肿的胎儿患有严重贫血。鉴定患有Hb巴特氏水肿的胎儿具有各种遗传相互作用,可以精确地重新定位各种胚胎Hb的电泳迁移能力。结论:本研究证实了胎儿血红蛋白病的遗传异质性,胎儿血液分析有助于血红蛋白病的推定诊断。研究结果应有助于该地区血红蛋白病的预防和控制规划。
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引用次数: 0
Overview of dengue diagnostic limitations and potential strategies for improvement. 登革热诊断局限性和潜在改进策略概述。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-29 eCollection Date: 2025-08-01 DOI: 10.1515/dx-2024-0173
Aruna Devi Selvaraj, Anand Ramaian Santhaseela, Elavarasan Tamilmani

Introduction: 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 Flavivirus. 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.

Content: 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.

Summary: 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.

Outlook: 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.

导言:登革热是由四种相关的登革热病毒(DENV)血清型 1-4 中的任何一种引起的病毒感染。DENV 是一种单链 RNA 病毒,属于黄病毒属。登革热可引起一系列症状,从轻微到危及生命的严重疾病。目前,对 DENV 的治疗仅限于支持性护理,通过早期诊断可取得更好的疗效。世卫组织建议,通过实施适当的临床管理策略,如早期实验室诊断,可将登革热死亡率降至近乎零。这就要求诊断方法既要有高灵敏度和特异性,又要适合在偏远地区进行床旁检测(POCT),且人员培训最少、检测成本较低:在本文中,我们概述了现有登革热确诊方法的局限性,如 ELISA 和 RT-PCR,这些方法耗时长、成本高,而且需要技术熟练的人员。我们还强调了克服这些挑战的替代策略。摘要:我们建议采用荧光免疫测定(FIA)和化学发光免疫测定(CLIA)等替代策略,它们有可能克服现有登革热诊断方法的局限性:展望:登革热诊断的改进,特别是在 POCT 环境中对严重登革热的识别,有助于实现登革热零死亡的目标。
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引用次数: 0
Reversible systemic vasoconstriction syndrome: a new diagnostic family of generalized vasospasm in multiple organs. 可逆性全身血管收缩综合征:多器官全身性血管痉挛的新诊断家族。
IF 2 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-29 eCollection Date: 2025-08-01 DOI: 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":"10.1515/dx-2024-0201","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":"479-481"},"PeriodicalIF":2.0,"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}
引用次数: 0
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Diagnosis
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