Diagnosis最新文献

{"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}

{"title":"Clinical implications of conjugated vs. direct bilirubin testing: analytical limits and clinical consequences.","authors":"Oswald Sonntag, Giuseppe Lippi","doi":"10.1515/dx-2025-0068","DOIUrl":"https://doi.org/10.1515/dx-2025-0068","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207988","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":"Prognostic role of previous syncope spells in ED patients with syncope.","authors":"Filippo Numeroso, Ivo Casagranda","doi":"10.1515/dx-2025-0045","DOIUrl":"https://doi.org/10.1515/dx-2025-0045","url":null,"abstract":"<p><strong>Objectives: </strong>In the prognostic evaluation of syncopal patients, previous episodes have a somewhat ambivalent role, as they are usually associated to reflex syncope, with a benign prognosis, but according to some authors when frequent require further investigations even in case of a negative ED workup.</p><p><strong>Methods: </strong>Retrospective observational study in a cohort of 378 ED syncopal patients to investigated the presence of previous episodes and their prognostic significance, in predicting cardiac syncope, syncope associated to underlying acute diseases and syncope severe due to consequential risk.</p><p><strong>Results: </strong>We found previous syncopal episodes in over half of patients (57.4 %); mostly few (up to two episodes in total in 63.8 %), with a trends over time very rare or occasional, in a small minority complicated by major injuries. As regards the prognostic role of syncopal recurrences, we found: 1. no association between their total number in life with any outcome considered; 2. a close association between presence of acute principal diseases and absence of previous episodes; 3. a close association between severe syncope due to consequential risk and a frequent or recurrent time course of previous spells and previous episodes worsened by major injuries.</p><p><strong>Conclusions: </strong>Previous episodes, although frequent, don't correlate with adverse outcomes so don't help to identify high risk patients. Conversely, a first syncopal episode, especially in elderly patients, requires careful evaluation to rule out any underlying acute condition. Additionally, attention should be also paid to patients with previous episodes clustered in the last period or complicated by severe injuries, as they negatively impact quality of life.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207989","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":"Optimizing use of illness script builder templates in medical education.","authors":"Erin H Yang, Joseph Rencic, Alec B Rezigh, Prathit A Kulkarni","doi":"10.1515/dx-2025-0005","DOIUrl":"https://doi.org/10.1515/dx-2025-0005","url":null,"abstract":"<p><p>Illness scripts are mental networks of information about medical diseases and are used by clinicians to efficiently make diagnostic and treatment decisions. The traditional components of an illness script include the epidemiologic risk factors, pathophysiology, and clinical findings of a disease [Feltovich PJ, Barrows HS. Issues of generality in medical problem solving. In: Schmidt HG, De Volder ML, editors. Tutorials in problem-based learning. Assen/Maastricht: Van Gorcum; 1984:128-42 pp]. Here, we coin the term illness script builder templates (ISBTs), which are educational tools to help learners develop their illness scripts. While the actual concept of ISBTs is not new, we aim to explicitly distinguish these discrete learning tools from illness scripts themselves, which are mental frameworks. ISBTs have significant pedagogic value. They are being more widely adopted in clinical curricula in medical school, as they have been well-received by students and educationally effective. ISBTs allow the integration of new knowledge to be intuitive, as they take advantage of our predilection toward story-based learning. Limitations to ISBTs also exist, especially when considering their optimal length and structure as well as complexity for different levels of learners. We additionally explore the specific strengths and limitations of ISBTs and propose strategies to maximize their use in education and clinical practice.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180954","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":"Does ANA positivity alone lead to microcirculatory alterations detectable by capillaroscopy?","authors":"Angelo Nigro","doi":"10.1515/dx-2025-0020","DOIUrl":"https://doi.org/10.1515/dx-2025-0020","url":null,"abstract":"","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181060","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":"Telehealth triage in pediatric rheumatology: a diagnostically accurate tool to improve access to care.","authors":"Laura Aisenberg, Irit R Rasooly, Pamela F Weiss, Jon Burnham, Anna Costello","doi":"10.1515/dx-2025-0031","DOIUrl":"https://doi.org/10.1515/dx-2025-0031","url":null,"abstract":"<p><strong>Objectives: </strong>During the SARS-CoV-2 pandemic, new patient evaluations in pediatric rheumatology were performed using telehealth. Given the pediatric rheumatology workforce shortage, telehealth may be a way to efficiently triage referrals. The objective was to assess the utility of telehealth visits as a diagnostic tool to accurately assess the need for in-person evaluation.</p><p><strong>Methods: </strong>This was a retrospective cohort study of patients evaluated by telehealth for a new patient visit from March 1 to June 30, 2020 at a tertiary center. Electronic health record documentation from subsequent rheumatology, specialty, and primary care encounters over the subsequent 4 years were reviewed. The primary outcome was diagnostic concordance, defined as consistency in the documented diagnostic reasoning, between the initial telehealth video visit and in-person follow-up visits.</p><p><strong>Results: </strong>During the study period, there were 111 telehealth visits, 80 (72 %) of which had follow-up data. 55/80 had in-person rheumatology evaluations. Only 9 % patients had discordant diagnoses, all of whom had initial concern for inflammatory arthritis during the telehealth visit but a diagnosis of a non-inflammatory condition after in-person evaluation. Nine patients with a significant rheumatic disease were identified via telehealth. There were no unplanned ED visits or hospital admissions following telehealth visits. 33 % of patients were found to not warrant rheumatologic follow-up after the telehealth visit.</p><p><strong>Conclusions: </strong>For pediatric rheumatology new patient evaluations, diagnostic accuracy via telehealth evaluation was high. Providers triaged patients with chronic rheumatologic conditions for in-person evaluations and were able to accurately identify benign conditions that did not require in-person follow-up.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149716","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":"Integrating basic sciences and clinical skills: a thread of Clinicopathological Correlations in a Clinical Skill Course.","authors":"Ghaith Al-Eyd, Lauren Fine, Yolanda Payne-Jameau","doi":"10.1515/dx-2023-0173","DOIUrl":"https://doi.org/10.1515/dx-2023-0173","url":null,"abstract":"<p><p>Understanding the pathologic basis of diseases and their clinical correlates has been growing in parallel to the relevant advances in science and medicine. However, most reformed medical school curricula have mainly addressed the overall content integration with a less emphasis on explicitly structuring the integration of pathophysiology or other relevant basic sciences in clinical skills (CS) courses. Clinicopathologic Correlations (CPCOR), when effectively designed in CS courses, link the clinical findings to their related basic science fundamental changes. Regular highlighting of relevant CPCORs in CS courses enhances student acquisition of clinical reasoning skills and at the same time triggers their translational scientific curiosity. The six-step CPCOR process, detailed in the manuscript, starts with developing session learning objectives that guide CPCOR content development relevant to the weekly CS case. A typical CPCOR session includes pre-encounter and post-encounter small group activities in which students formulate broad and narrow differential diagnosis respectively. Throughout the session, students discuss risk factors, etiopathogenesis, and history and physical examination findings for the identified differential diagnoses. These small group activities are enhanced by a large group session delivered by a Pathologist-Clinician team that leads student centered CPCOR discussions relevant to the weekly CS case. In addition to the enhanced clinical reasoning skills, the implemented CPCOR process augmented the curricular emphasis of lifelong learning skills while reinforcing the importance of the pathologic basis of the clinical findings. Our streamlined CPCOR process can easily be adapted into other medical school curricula to meet relevant needs of integration and clinical reasoning enhancements.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149695","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":"Implementation of a curriculum on communicating diagnostic uncertainty for clerkship-level medical students: a pseudorandomized and controlled study.","authors":"Neha Bansal Etherington, Casey N McQuade, Amar Kohli, Deborah DiNardo, Scott Rothenberger, Eliana Bonifacino","doi":"10.1515/dx-2025-0006","DOIUrl":"https://doi.org/10.1515/dx-2025-0006","url":null,"abstract":"<p><strong>Objectives: </strong>Physicians rarely receive formal training on communicating diagnostic uncertainty to patients. Best practices in timing and educational strategies are not established. We aimed to develop, implement and assess a curriculum on communicating uncertainty for medical students.</p><p><strong>Methods: </strong>This was a pseudorandomized and controlled study. Students on their Internal Medicine Clerkship during the study period from February to August 2023 were invited to participate and separated into control and intervention groups based on assigned rotation site. Students in the intervention group received a curriculum on communicating diagnostic uncertainty. All students completed a subscale of the Physicians' Reaction to Uncertainty Scale (PRUS) at the beginning of their clerkship and at the end of week 4 and an Objective Structured Clinical Examination (OSCE) at the end of week 4.</p><p><strong>Results: </strong>Fifty-four students participated in the curriculum (29 intervention, 25 control). Intervention group students scored 2.13 points higher than control group students on their skills assessment (mean OSCE for intervention group=14.3, control group=12.17, p<0.001). PRUS increased in both groups, indicating improved tolerance of uncertainty, with no significant difference in change in PRUS between groups (mean change in PRUS for intervention group=2.68, control group=4.82, p=0.33). 97.7 % of students agreed that a curriculum on uncertainty should be included in their medical training.</p><p><strong>Conclusions: </strong>Students who participated in a curriculum on communication of uncertainty demonstrated superior skills in communicating uncertainty during their OSCE. There was a significant increase in PRUS indicating decreased stress associated with uncertainty for all students. This may reflect high levels of baseline stress associated with starting a clerkship, maturation, exposure to cases, or role-modeling by the clinical team.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149691","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":"Large language models for dermatological image interpretation - a comparative study.","authors":"Lasse Cirkel, Fabian Lechner, Lukas Alexander Henk, Martin Krusche, Martin C Hirsch, Michael Hertl, Sebastian Kuhn, Johannes Knitza","doi":"10.1515/dx-2025-0014","DOIUrl":"https://doi.org/10.1515/dx-2025-0014","url":null,"abstract":"<p><strong>Objectives: </strong>Interpreting skin findings can be challenging for both laypersons and clinicians. Large language models (LLMs) offer accessible decision support, yet their diagnostic capabilities for dermatological images remain underexplored. This study evaluated the diagnostic performance of LLMs based on image interpretation of common dermatological diseases.</p><p><strong>Methods: </strong>A total of 500 dermatological images, encompassing four prevalent skin conditions (psoriasis, vitiligo, erysipelas and rosacea), were used to compare seven multimodal LLMs (GPT-4o, GPT-4o mini, Gemini 1.5 Pro, Gemini 1.5 Flash, Claude 3.5 Sonnet, Llama3.2 90B and 11B). A standardized prompt was used to generate one top diagnosis.</p><p><strong>Results: </strong>The highest overall accuracy was achieved by GPT-4o (67.8 %), followed by GPT-4o mini (63.8 %) and Llama3.2 11B (61.4 %). Accuracy varied considerably across conditions, with psoriasis with the highest mean LLM accuracy of 59.2 % and erysipelas demonstrating the lowest accuracy (33.4 %). 11.0 % of all images were misdiagnosed by all LLMs, whereas 11.6 % were correctly diagnosed by all models. Correct diagnoses by all LLMs were linked to clear, disease-specific features, such as sharply demarcated erythematous plaques in psoriasis. Llama3.2 90B was the only LLM to decline diagnosing images, particularly those involving intimate areas of the body.</p><p><strong>Conclusions: </strong>LLM performance varied significantly, emphasizing the need for cautious usage. Notably, a free, locally hostable model correctly identified the top diagnosis for approximately two-thirds of all images, demonstrating the potential for safer, locally deployed LLMs. Advancements in model accuracy and the integration of clinical metadata could further enhance accessible and reliable clinical decision support systems.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149711","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":"Analytical performance and user-friendliness of four point-of-care measuring systems for monitoring prothrombin time international normalized ratio in the hands of the intended users.","authors":"Dår Kristian Kur, Elisabet Eriksson Boija, Christine Morken, Sverre Sandberg, Anne Stavelin","doi":"10.1515/dx-2025-0023","DOIUrl":"https://doi.org/10.1515/dx-2025-0023","url":null,"abstract":"<p><strong>Objectives: </strong>Scandinavian evaluation of laboratory equipment for point of care testing (SKUP) provides objective and supplier-independent information about analytical quality and user-friendliness of point-of-care (POC) measuring systems. The evaluation reports are freely available online and are valuable tools when selecting fit-for-purpose POC equipment. In this study, we present an overview of the performance of four POC measuring systems for monitoring prothrombin time international normalized ratio (INR) assessed against updated analytical performance specifications (APSs).</p><p><strong>Methods: </strong>Primary healthcare centres (PHCCs) in Sweden and Norway did the practical work under real-life conditions. In each evaluation, 2-4 PHCCs participated with at least 40 patients on Warfarin treatment per site. Capillary samples were measured on the POC INR systems (qLabs Q3 Plus PT-INR Owren, Xprecia Stride, microINR or ProTime InRhythm), with venous samples analysed at hospital laboratories for comparison (STA-R Evolution or Sysmex CS5100). In the current study, APSs from SKUP, ISO 17593:2022, and CLSI POCT14-Ed2 were used. User-friendliness was assessed by addressing operational facilities, user-manual, time factors, and quality control.</p><p><strong>Results: </strong>Only microINR coagulometer met the APS for accuracy, while qLabs Q3 Plus PT-INR Owren and ProTime InRhythm met the repeatability criteria. Xprecia Stride scored highest on user-friendliness, whereas the other systems faced challenges with sample application and unclear error messages on the devices.</p><p><strong>Conclusions: </strong>This study highlights the potential for improvements in POC INR measuring systems and underscores the importance of performing objective evaluations under real-life conditions.</p>","PeriodicalId":11273,"journal":{"name":"Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149465","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}