Diagnostics

12 pages, 484 KiB

Open AccessReview

Navigating Hyperhemolysis in Sickle Cell Disease: Insights from Literature

by Sruthi Vellanki, Nishanth Thalambedu, Anup Kumar Trikannad Ashwini Kumar, Sravya Vellanki, Medhavi Honhar, Rachel Hendrix, Denese Harris, Mamatha Gaddam, Sunny R. K. Singh, Shivi Jain, Muthu Kumaran, Cesar Gentille and Ankur Varma

Diagnostics 2025, 15(14), 1835; https://doi.org/10.3390/diagnostics15141835 - 21 Jul 2025

Viewed by 571

Abstract

Sickle cell disease (SCD) is a prevalent genetic disorder caused by a mutation in the beta-globin gene. Hyperhemolysis (HS) is a severe complication involving the rapid destruction of both transfused and endogenous red blood cells, commonly found in SCD. This literature review explores [...] Read more.

Sickle cell disease (SCD) is a prevalent genetic disorder caused by a mutation in the beta-globin gene. Hyperhemolysis (HS) is a severe complication involving the rapid destruction of both transfused and endogenous red blood cells, commonly found in SCD. This literature review explores the clinical presentation, diagnosis, pathogenesis, and management of HS in SCD. HS can manifest acutely or in a delayed manner, complicating diagnosis due to overlapping symptoms and varying reticulocyte responses. Immunohematological assessments often reveal delayed positivity in direct antiglobulin tests and antibody screens. HS typically presents severe anemia, jaundice, hemoglobinuria, and hemodynamic instability. Diagnostic markers include elevated bilirubin and lactate dehydrogenase levels alongside a reduced reticulocyte count. The management of HS is primarily empirical, with no clinical trials to support standardized treatment protocols. First-line treatments involve steroids and intravenous immunoglobulins (IVIG), which modulate immune responses and mitigate hemolysis. Refractory cases may require additional agents such as rituximab, eculizumab, tocilizumab, and, in some instances, plasma exchange or erythropoietin-stimulating agents. Novel therapeutic approaches, including bortezomib and Hemopure, have shown promise but require further investigation. Current management strategies are empirical, underscoring the need for robust clinical trials to establish effective treatment protocols that ultimately improve outcomes for SCD patients experiencing HS. Full article

(This article belongs to the Special Issue Diagnosis and Prognosis of Hematological Disease)

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12 pages, 238 KiB

Open AccessArticle

To Self-Treat or Not to Self-Treat: Evaluating the Diagnostic, Advisory and Referral Effectiveness of ChatGPT Responses to the Most Common Musculoskeletal Disorders

by Ufuk Arzu and Batuhan Gencer

Diagnostics 2025, 15(14), 1834; https://doi.org/10.3390/diagnostics15141834 - 21 Jul 2025

Viewed by 484

Abstract

Background/Objectives: The increased accessibility of information has resulted in a rise in patients trying to self-diagnose and opting for self-medication, either as a primary treatment or as a supplement to medical care. Our objective was to evaluate the reliability, comprehensibility, and readability [...] Read more.

Background/Objectives: The increased accessibility of information has resulted in a rise in patients trying to self-diagnose and opting for self-medication, either as a primary treatment or as a supplement to medical care. Our objective was to evaluate the reliability, comprehensibility, and readability of the responses provided by ChatGPT 4.0 when queried about the most prevalent orthopaedic problems, thus ascertaining the occurrence of misguidance and the necessity for an audit of the disseminated information. Methods: ChatGPT 4.0 was presented with 26 open-ended questions. The responses were evaluated by two observers using a Likert scale in the categories of diagnosis, recommendation, and referral. The scores from the responses were subjected to subgroup analysis according to the area of interest (AoI) and anatomical region. The readability and comprehensibility of the chatbot’s responses were analyzed using the Flesch–Kincaid Reading Ease Score (FRES) and Flesch–Kincaid Grade Level (FKGL). Results: The majority of the responses were rated as either ‘adequate’ or ‘excellent’. However, in the diagnosis category, a significant difference was found in the evaluation made according to the AoI (p = 0.007), which is attributed to trauma-related questions. No significant difference was identified in any other category. The mean FKGL score was 7.8 ± 1.267, and the mean FRES was 52.68 ± 8.6. The average estimated reading level required to understand the text was considered as “high school”. Conclusions: ChatGPT 4.0 facilitates the self-diagnosis and self-treatment tendencies of patients with musculoskeletal disorders. However, it is imperative for patients to have a robust understanding of the limitations of chatbot-generated advice, particularly in trauma-related conditions. Full article

(This article belongs to the Special Issue Advancements in the Diagnostics and Management of Musculoskeletal Diseases)

11 pages, 272 KiB

Open AccessArticle

Analytical and Clinical Validation of the ConfiSign HIV Self-Test for Blood-Based HIV Screening

by Hyeyoung Lee, Ae-Ran Choi, Hye-Sun Park, JoungOk Kim, Seo-A Park, Seungok Lee, Jaeeun Yoo, Ji Sang Yoon, Sang Il Kim, Yoon Hee Jun, Younjeong Kim, Yeon Jeong Jeong and Eun-Jee Oh

Diagnostics 2025, 15(14), 1833; https://doi.org/10.3390/diagnostics15141833 - 21 Jul 2025

Viewed by 522

Abstract

Background/Objectives: Since the World Health Organization (WHO) recommended HIV self-testing as an alternative to traditional facility-based testing in 2016, it has been increasingly adopted worldwide. This study aimed to evaluate the performance of the ConfiSign HIV Self-Test (GenBody Inc., Republic of Korea), [...] Read more.

Background/Objectives: Since the World Health Organization (WHO) recommended HIV self-testing as an alternative to traditional facility-based testing in 2016, it has been increasingly adopted worldwide. This study aimed to evaluate the performance of the ConfiSign HIV Self-Test (GenBody Inc., Republic of Korea), a newly developed blood-based immunochromatographic assay for the qualitative detection of total antibodies (IgG and IgM) against HIV-1/HIV-2. Methods: The evaluation included four components: (1) retrospective analysis of 1400 archived serum samples (400 HIV-positive and 1000 HIV-negative samples), (2) prospective self-testing by 335 participants (112 HIV-positive participants and 223 individuals with an unknown HIV status, including healthy volunteers), (3) assessment using seroconversion panels and diverse HIV subtypes, and (4) analytical specificity testing for cross-reactivity and interference. The Elecsys HIV combi PT and Alinity I HIV Ag/Ab Combo assays were used as reference assays. Results: In retrospective testing, the ConfiSign HIV Self-Test achieved a positive percent agreement (PPA) of 100%, a negative percent agreement (NPA) of 99.2%, and a Cohen’s kappa value of 0.986, showing excellent agreement with the reference assays. In the prospective study, the test showed 100% sensitivity and specificity, with a low invalid result rate of 1.8%. All HIV-positive samples, including those with low signal-to-cutoff (S/Co) values in the Alinity I assay, were correctly identified. The test also reliably detected early seroconversion samples and accurately identified a broad range of HIV-1 subtypes (A, B, C, D, F, G, CRF01_AE, CRF02_AG, and group O) as well as HIV-2. No cross-reactivity or interference was observed with samples that were positive for hepatitis viruses, cytomegalovirus, Epstein–Barr virus, varicella zoster virus, influenza, HTLV-1, HTLV-2, or malaria. Conclusions: The ConfiSign HIV Self-Test demonstrated excellent sensitivity, specificity, and robustness across diverse clinical samples, supporting its reliability and practicality as a self-testing option for HIV-1/2 antibody detection. Full article

(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)

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10 pages, 2059 KiB

Open AccessArticle

An Emerging Trend of At-Home Uroflowmetry—Designing a New Vibration-Based Uroflowmeter with Artificial Intelligence Pattern Recognition of Uroflow Curves and Comparing with Other Technologies

by Vincent F. S. Tsai, Yao-Chou Tsai, Stephen S. D. Yang, Ming-Wei Li, Yuan-Hung Pong and Yu-Ting Tsai

Diagnostics 2025, 15(14), 1832; https://doi.org/10.3390/diagnostics15141832 - 21 Jul 2025

Viewed by 448

Abstract

Background/Objectives: For aging men experiencing lower urinary tract symptoms (LUTS), bladder diaries (BD) and uroflowmetry (UFM) are commonly used non-invasive diagnostic tools. However, bladder diaries often suffer from subjectivity and incomplete data, while traditional hospital-based uroflowmetry lacks convenience and repeatability. Therefore, there [...] Read more.

Background/Objectives: For aging men experiencing lower urinary tract symptoms (LUTS), bladder diaries (BD) and uroflowmetry (UFM) are commonly used non-invasive diagnostic tools. However, bladder diaries often suffer from subjectivity and incomplete data, while traditional hospital-based uroflowmetry lacks convenience and repeatability. Therefore, there is a growing need for a user-friendly, artificial intelligence (AI)-powered at-home uroflow monitoring solution. This study aims to develop a novel, vibration-based home uroflowmetry system capable of recognizing uroflow curve patterns and measuring voiding parameters, and to compare its performance with other existing home-based uroflowmetry methods. Methods: Seventy-six male participants, all of whom provided informed consent, underwent uroflowmetry to assess voiding symptoms. An accelerometer affixed to the uroflowmeter’s urine container captured vibration signals, which were used to calculate the root mean square (RMS) values and maximum amplitude (Mmax). Simultaneously, the uroflowmeter recorded standard voiding parameters and generated uroflow curves. These vibration signals were then analyzed using a convolutional neural network (CNN) to classify six distinct uroflow curve patterns, aiding in diagnostic evaluation. Results: Seventy-six participants’ voiding volume ranged from 50 mL to 690 mL (median [Q1, Q3]: 160 [70.00, 212.50] mL). The correlation analysis revealed positive correlations between the vibration signals and voiding parameters, including the voided volume and RMS (R = 0.768, p < 0.001), Qmax and Mmax (R = 0.684, p < 0.001), voiding time and signal time (R = 0.838, p < 0.001), time to Qmax and time to Mmax (R = 0.477, p < 0.001). AI pattern recognition demonstrated high accuracy with all three indicators (precision, recall, and F1 score) surpassing 0.97. Conclusions: This AI-assisted vibration-based home uroflowmetry enables accurate voiding parameter measurement and uroflow pattern recognition, showing high precision, recall, and F1-score. It might offer a convenient solution for continuous and subjective bladder monitoring outside clinical settings. Full article

(This article belongs to the Special Issue Artificial Intelligence in Health Monitoring and Diagnosis: AI Meets Conventional Models)

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12 pages, 2353 KiB

Open AccessArticle

Intergrader Agreement on Qualitative and Quantitative Assessment of Diabetic Retinopathy Severity Using Ultra-Widefield Imaging: INSPIRED Study Report 1

by Eleonora Riotto, Wei-Shan Tsai, Hagar Khalid, Francesca Lamanna, Louise Roch, Medha Manoj and Sobha Sivaprasad

Diagnostics 2025, 15(14), 1831; https://doi.org/10.3390/diagnostics15141831 - 21 Jul 2025

Viewed by 422

Abstract

Background/Objectives: Discrepancies in diabetic retinopathy (DR) grading are well-documented, with retinal non-perfusion (RNP) quantification posing greater challenges. This study assessed intergrader agreement in DR evaluation, focusing on qualitative severity grading and quantitative RNP measurement. We aimed to improve agreement through structured consensus [...] Read more.

Background/Objectives: Discrepancies in diabetic retinopathy (DR) grading are well-documented, with retinal non-perfusion (RNP) quantification posing greater challenges. This study assessed intergrader agreement in DR evaluation, focusing on qualitative severity grading and quantitative RNP measurement. We aimed to improve agreement through structured consensus meetings. Methods: A retrospective analysis of 100 comparisons from 50 eyes (36 patients) was conducted. Two paired medical retina fellows graded ultra-widefield color fundus photographs (CFP) and fundus fluorescein angiography (FFA) images. CFP assessments included DR severity using the International Clinical Diabetic Retinopathy (ICDR) grading system, DR Severity Scale (DRSS), and predominantly peripheral lesions (PPL). FFA-based RNP was defined as capillary loss with grayscale matching the foveal avascular zone. Weekly adjudication by a senior specialist resolved discrepancies. Intergrader agreement was evaluated using Cohen’s kappa (qualitative DRSS) and intraclass correlation coefficients (ICC) (quantitative RNP). Bland–Altman analysis assessed bias and variability. Results: After eight consensus meetings, CFP grading agreement improved to excellent: kappa = 91% (ICDR DR severity), 89% (DRSS), and 89% (PPL). FFA-based PPL agreement reached 100%. For RNP, the non-perfusion index (NPI) showed moderate overall ICC (0.49), with regional ICCs ranging from 0.40 to 0.57 (highest in the nasal region, ICC = 0.57). Bland–Altman analysis revealed a mean NPI difference of 0.12 (limits: −0.11 to 0.35), indicating acceptable variability despite outliers. Conclusions: Structured consensus training achieved excellent intergrader agreement for DR severity and PPL grading, supporting the clinical reliability of ultra-widefield imaging. However, RNP measurement variability underscores the need for standardized protocols and automated tools to enhance reproducibility. This process is critical for developing robust AI-based screening systems. Full article

(This article belongs to the Special Issue New Advances in Retinal Imaging)

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24 pages, 637 KiB

Open AccessReview

Deep Learning Network Selection and Optimized Information Fusion for Enhanced COVID-19 Detection: A Literature Review

by Olga Adriana Caliman Sturdza, Florin Filip, Monica Terteliu Baitan and Mihai Dimian

Diagnostics 2025, 15(14), 1830; https://doi.org/10.3390/diagnostics15141830 - 21 Jul 2025

Viewed by 1298

Abstract

The rapid spread of COVID-19 increased the need for speedy diagnostic tools, which led scientists to conduct extensive research on deep learning (DL) applications that use chest imaging, such as chest X-ray (CXR) and computed tomography (CT). This review examines the development and [...] Read more.

The rapid spread of COVID-19 increased the need for speedy diagnostic tools, which led scientists to conduct extensive research on deep learning (DL) applications that use chest imaging, such as chest X-ray (CXR) and computed tomography (CT). This review examines the development and performance of DL architectures, notably convolutional neural networks (CNNs) and emerging vision transformers (ViTs), in identifying COVID-19-related lung abnormalities. Individual ResNet architectures, along with CNN models, demonstrate strong diagnostic performance through the transfer protocol; however, ViTs provide better performance, with improved readability and reduced data requirements. Multimodal diagnostic systems now incorporate alternative methods, in addition to imaging, which use lung ultrasounds, clinical data, and cough sound evaluation. Information fusion techniques, which operate at the data, feature, and decision levels, enhance diagnostic performance. However, progress in COVID-19 detection is hindered by ongoing issues stemming from restricted and non-uniform datasets, as well as domain differences in image standards and complications with both diagnostic overfitting and poor generalization capabilities. Recent developments in COVID-19 diagnosis involve constructing expansive multi-noise information sets while creating clinical process-oriented AI algorithms and implementing distributed learning protocols for securing information security and system stability. While deep learning-based COVID-19 detection systems show strong potential for clinical application, broader validation, regulatory approvals, and continuous adaptation remain essential for their successful deployment and for preparing future pandemic response strategies. Full article

(This article belongs to the Special Issue Advances in Machine Learning for Computer-Aided Diagnosis in Biomedical Imaging—2nd Edition)

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16 pages, 1505 KiB

Open AccessArticle

Train-Time and Test-Time Computation in Large Language Models for Error Detection and Correction in Electronic Medical Records: A Retrospective Study

by Qiong Cai, Lanting Yang, Jiangping Xiao, Jiale Ma, Molei Liu and Xilong Pan

Diagnostics 2025, 15(14), 1829; https://doi.org/10.3390/diagnostics15141829 - 21 Jul 2025

Viewed by 438

Abstract

Background/Objectives: This study examines the effectiveness of train-time computation, test-time computation, and their combination on the performance of large language modeling applied to an electronic medical record quality management system. It identifies the most effective combination of models to enhance clinical documentation performance [...] Read more.

Background/Objectives: This study examines the effectiveness of train-time computation, test-time computation, and their combination on the performance of large language modeling applied to an electronic medical record quality management system. It identifies the most effective combination of models to enhance clinical documentation performance and efficiency. Methods: A total of 597 clinical medical records were selected from the MEDEC-MS dataset, 10 of which were used for prompt engineering to guide model training. Eight large language models were employed for training, focusing on train-time computation and test-time computation. Model performance on specific error types was assessed using precision, recall, F1 score, and error correction accuracy. The dataset was divided into training and testing sets in a 7:3 ratio. The assembly model was created using binary logistic regression for assembly analysis of the top-performing models. Its performance was evaluated using area under the curve values and model weights. Results: GPT-4 and Deepseek R1 demonstrated higher overall accuracy in detecting errors. Models that focus on train-time computation exhibited shorter reasoning times and stricter error detection, while models emphasizing test-time computation achieved higher error correction accuracy. The GPT-4 model was particularly effective in addressing issues related to causal organisms, management, and pharmacotherapy, whereas models focusing on test-time computation performed better in tasks involving diagnosis and treatment. The assembly model, focusing on both train-time computation and test-time computation, outperformed any single large language model (Assembly model accuracy: 0.690 vs. GPT-4 accuracy: 0.477). Conclusions: Models focusing on train-time computation demonstrated greater efficiency in processing speed, while models focusing on test-time computation showed higher accuracy and interpretability in identifying and detecting quality issues in electronic medical records. Assembling the train-time and test-time computation strategies may strike a balance between high accuracy and model efficiency, thereby enhancing the development of electronic medical records and improving medical care. Full article

(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)

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10 pages, 219 KiB

Open AccessArticle

Alopecia Areata Associated with Dupilumab: National Database Study

by Tarun Sontam, Humaira Nfn, Jodi Yanking Li, Sehar Nadeem, Katie Beier, Neil K. Jairath and Vignesh Ramachandran

Diagnostics 2025, 15(14), 1828; https://doi.org/10.3390/diagnostics15141828 - 21 Jul 2025

Viewed by 751

Abstract

Background: Alopecia areata (AA), an autoimmune condition causing non-scarring hair loss, often coexists with atopic dermatitis (AD) due to shared T-helper cell type 2 (Th2)-mediated pathways. Dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 signaling, is a cornerstone treatment for AD but has [...] Read more.

Background: Alopecia areata (AA), an autoimmune condition causing non-scarring hair loss, often coexists with atopic dermatitis (AD) due to shared T-helper cell type 2 (Th2)-mediated pathways. Dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 signaling, is a cornerstone treatment for AD but has conflicting reports regarding its impact on AA, with some suggesting therapeutic benefits and others indicating AA induction. Methods: This retrospective study, utilizing the TriNetX Research Network’s de-identified data from over 300 million patient records, investigates the association between dupilumab use and AA risk in AD patients. Results: After propensity score matching, 23,782 dupilumab users were compared with an equal number of controls. Results revealed a statistically significant increased AA risk in dupilumab users (odds ratio: 1.436, 95% CI: 1.066–1.935, p = 0.0167) after 16 weeks. Cases occurring within 16 weeks were excluded. Conclusions: Potential mechanisms include immune rebalancing, with Th2 suppression possibly upregulating Th1/Th17 pathways or unmasking latent AA in predisposed individuals. These findings challenge dupilumab’s potential as an AA treatment and highlight the need for vigilant monitoring, including routine scalp examinations and patient education. Future research should focus on mechanistic pathways, risk stratification, and comparative studies with other biologics to optimize personalized treatment strategies for AD and AA. Full article

(This article belongs to the Special Issue Diagnosis, Treatment, and Management of Hair Disorders)

27 pages, 18604 KiB

Open AccessReview

A Plea for a Paradigm Shift from X-Ray to Ultrasound in Adults: An Update for Emergency Physicians, General Practitioners, Orthopedists and Sports Medicine Physicians

by Joseph Osterwalder, Beatrice Hoffmann, Mike Blaivas, Rudolf Horn, Eric Matchiner and Christoph F. Dietrich

Diagnostics 2025, 15(14), 1827; https://doi.org/10.3390/diagnostics15141827 - 21 Jul 2025

Viewed by 447

Abstract

This update is aimed at various specialists who deal with fractures, such as emergency physicians, general practitioners, orthopedists, and sports medicine physicians. The Global Burden of Disease 2019 Fracture Collaborators estimated the worldwide incidence to be at 178 million, i.e., 2.2 fractures per [...] Read more.

This update is aimed at various specialists who deal with fractures, such as emergency physicians, general practitioners, orthopedists, and sports medicine physicians. The Global Burden of Disease 2019 Fracture Collaborators estimated the worldwide incidence to be at 178 million, i.e., 2.2 fractures per 1000 people per year. Traditionally, X-rays are the first choice for suspected fractures. However, many fractures can also be detected or excluded with ultrasound. This option is especially attractive when available at the “point of care,”, i.e., at the patient’s bedside in the ambulatory or emergency setting. Point-of-care ultrasound provides clinicians with a simple, cost-effective imaging tool without radiation and complex infrastructure. The evidence suggests that ultrasound has high diagnostic sensitivity and can reliably rule out many fractures with a high degree of certainty. When applied correctly, it could potentially save millions of radiographs and, in some cases, even compete with the accuracy of X-rays and CT scans. These findings suggest a potential paradigm shift. This update discusses the advantages of ultrasound, its examination technique, sonoanatomy of fractures, and relevant indication groups, including its application for analgesia through nerve, fascia, and fascial plane blocks. Ultrasound’s diagnostic value supports its integration into routine fracture assessment, particularly in emergency and ambulatory care settings Full article

(This article belongs to the Special Issue Recent Advances and Application of Point of Care Ultrasound)

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15 pages, 1025 KiB

Open AccessArticle

Ocular Structural and Vascular Changes in Patients with Severe Asymptomatic Carotid Disease After Undergoing Carotid Endarterectomy (CEA) and Carotid Artery Stenting (CAS)

by Foteini Xanthou, Anna Dastiridou, Athanasios Giannoukas, Miltiadis Matsagkas, Chara Tzavara, Athanasios Chaidoulis, Sofia Androudi and Evangelia E. Tsironi

Diagnostics 2025, 15(14), 1826; https://doi.org/10.3390/diagnostics15141826 - 21 Jul 2025

Viewed by 378

Abstract

Background/Objectives: This study aimed to prospectively assess the incidence of retinal embolization and to evaluate the vascular and structural changes in the retina and choroid in 52 patients with asymptomatic severe carotid artery disease who underwent carotid artery revascularization. Methods: In [...] Read more.

Background/Objectives: This study aimed to prospectively assess the incidence of retinal embolization and to evaluate the vascular and structural changes in the retina and choroid in 52 patients with asymptomatic severe carotid artery disease who underwent carotid artery revascularization. Methods: In our study, 35 patients underwent carotid endarterectomy (CEA) and 17 underwent carotid artery stenting (CAS). Biomicroscopy, fundoscopy, optical coherence tomography (OCT), and OCT-angiography (OCTA) were performed at baseline and 1 month after revascularization. Results: The subfoveal choroidal thickness (SFCT), peripapillary choroidal thickness inferior to the optic nerve head (ppCTi), total overall average retinal vascular density (rVDtot), and total overall average choriocapillaris vascular density (ccVDtot) of the eyes ipsilateral to the operated carotid artery increased significantly after revascularization, whereas a statistically significant increase was also found in the SFCT, rVDtot, and ccVDtot of the contralateral eyes in the overall cohort. Comparing the two study groups, we found that the SFCT, superior and inferior peripapillary choroidal thicknesses (ppCTs, ppCTi), rVDtot, and ccVDtot increased in both groups after revascularization, but significantly only in the CEA group. Furthermore, the temporal choriocapillaris vascular density (ccVDt) increased significantly after revascularization in both groups to a similar degree. Conclusions: Carotid artery revascularization led to a statistically significant increase in retinal and choroidal vascular densities, which indicates significantly improved ocular perfusion. The analysis of the findings of the two study groups suggests the superiority of CEA in terms of improving ocular perfusion in asymptomatic severe carotid artery disease. The rate of retinal embolization was similar in both surgical groups. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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16 pages, 4492 KiB

Open AccessCase Report

Lip Schwannoma—A Rare Presentation in a Pediatric Patient: Case Report and a Literature Review

by Cinzia Casu, Mara Pinna, Andrea Butera, Carolina Maiorani, Girolamo Campisi, Clara Gerosa, Antonella Caiazzo, Andrea Scribante and Germano Orrù

Diagnostics 2025, 15(14), 1825; https://doi.org/10.3390/diagnostics15141825 - 20 Jul 2025

Viewed by 479

Abstract

Background/Objectives: Schwannoma is a rare tumor, typical in young adults, originating from the myelin sheath that surrounds Schwann cells. It can occur in any part of the Peripheral Nervous System (PNS). It develops in the head and neck region in 25–48% of [...] Read more.

Background/Objectives: Schwannoma is a rare tumor, typical in young adults, originating from the myelin sheath that surrounds Schwann cells. It can occur in any part of the Peripheral Nervous System (PNS). It develops in the head and neck region in 25–48% of cases, and the eighth pair of cranial nerves (vestibulocochlear nerves) are the most hit (vestibular schwannoma). Oral cavity involvement is exceedingly rare, accounting for about 1–2% of all cases. The most affected oral site is the tongue, especially its anterior third, while localization on the lip is one of the least common sites for the development of this lesion. Case Presentation: A lower lip schwannoma on a 17-year-old boy, present for about 7 years, was documented. Material and Methods: PubMed and Google Scholar were used as research engines; English scientific works published in the last 20 years (2005–2024) regarding oral cavity involvement, using the keywords “Schwannoma”, “Oral Schwannoma”, “Pediatric Oral Schwannoma”, and “Schwannoma of the lip”, were considered. Results: In total, 805 and 16,890 items were found on PubMed and Google Scholar search engines, respectively. After title, abstract, full text evaluation, and elimination of duplicates, 26 articles were included in the review process. Discussion: Clinically, oral schwannoma presents as an asymptomatic hard–elastic fluctuating mass, often misdiagnosed on the lip as a traumatic or inflammatory lesion (e.g., mucocele). Biopsy is mandatory, and histological examination reveals positivity to the neuronal marker S-100. Conclusions: Complete excision also prevents recurrence. Malignant transformation is extremely rare. Full article

(This article belongs to the Special Issue Advances in Dental Diagnostics)

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15 pages, 2800 KiB

Open AccessArticle

Impact of Sodium-Glucose Cotransporter-2 Inhibitors on Post-Transurethral Resection of Bladder Tumor Infection and Prognosis

by Nobutaka Nishimura, Makito Miyake, Tatsuki Miyamoto, Daiki Ichii, Makito Naoi, Kosuke Narita, Mikiko Kohashi, Atsushi Tomioka, Kazumasa Torimoto, Ryotaro Kawashima, Kazuki Miyazaki, Tomoharu Iwao, Kuniaki Inoue, Toshihiko Matsubara and Kiyohide Fujimoto

Diagnostics 2025, 15(14), 1824; https://doi.org/10.3390/diagnostics15141824 - 20 Jul 2025

Viewed by 506

Abstract

Background/Objectives: Sodium-glucose cotransporter-2 inhibitors (SGLT2is), by elevating urinary glucose levels, may predispose patients to urinary tract infections (UTI). However, limited evidence is available regarding the association between SGLT2is and postoperative outcomes after transurethral resection of bladder tumors (TURBT). We evaluated the impact of [...] Read more.

Background/Objectives: Sodium-glucose cotransporter-2 inhibitors (SGLT2is), by elevating urinary glucose levels, may predispose patients to urinary tract infections (UTI). However, limited evidence is available regarding the association between SGLT2is and postoperative outcomes after transurethral resection of bladder tumors (TURBT). We evaluated the impact of SGLT2is on post-TURBT pyuria and febrile UTI (fUTI), as well as oncological outcomes. Methods: We retrospectively reviewed the data of 812 patients with and without diabetes mellitus (DM) who underwent TURBT between January 2019 and May 2024. The patients were categorized into three groups: non-DM (Nara Medical University cohort, n = 344), DM non-SGLT2i (multi-institutional cohort, n = 363), and DM SGLT2i (multi-institutional cohort, n = 105). We compared fUTI-free survival, fUTI-related hospitalization-free survival, and persistent pyuria duration as well as oncological outcomes using the inverse probability of treatment weighting (IPTW)-adjusted Kaplan–Meier method and Cox regression analysis. Results: No significant differences in fUTI-free or hospitalization-free survival were observed between the non-DM and DM groups, whereas the DM group had prolonged pyuria compared to the non-DM group (1-year pyuria rate: 36.6% vs. 18.2%; p < 0.001). In contrast, the DM SGLT2i group had significantly shorter fUTI-free survival (1-year fUTI-free survival: 83.0% vs. 90.0%; p = 0.013) and longer pyuria persistence (1-year pyuria rate: 70.6% vs. 28.9%; p < 0.001) than the DM non-SGLT2i group. Additionally, the DM SGLT2i group was significantly associated with shorter UTUC-free survival than the DM non-SGLT2i group (p = 0.0072). SGLT2i was an independent prognostic factor for fUTI and prolonged pyuria in IPTW-adjusted Cox regression analysis. No significant differences were observed in fUTI-free survival, hospitalization-free survival, or persistent pyuria duration among the different SGLT2i types. Conclusions: Temporal discontinuation of SGLT2i in the peri-TURBT period may prevent persistent postoperative pyuria and the risk of fUTI. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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22 pages, 5804 KiB

Open AccessArticle

Can YOLO Detect Retinal Pathologies? A Step Towards Automated OCT Analysis

by Adriana-Ioana Ardelean, Eugen-Richard Ardelean and Anca Marginean

Diagnostics 2025, 15(14), 1823; https://doi.org/10.3390/diagnostics15141823 - 19 Jul 2025

Viewed by 586

Abstract

Background: Optical Coherence Tomography has become a common imaging technique that enables a non-invasive and detailed visualization of the retina and allows for the identification of various diseases. Through the advancement of technology, the volume and complexity of OCT data have rendered manual [...] Read more.

Background: Optical Coherence Tomography has become a common imaging technique that enables a non-invasive and detailed visualization of the retina and allows for the identification of various diseases. Through the advancement of technology, the volume and complexity of OCT data have rendered manual analysis infeasible, creating the need for automated means of detection. Methods: This study investigates the ability of state-of-the-art object detection models, including the latest YOLO versions (from v8 to v12), YOLO-World, YOLOE, and RT-DETR, to accurately detect pathological biomarkers in two retinal OCT datasets. The AROI dataset focuses on fluid detection in Age-related Macular Degeneration, while the OCT5k dataset contains a wide range of retinal pathologies. Results: The experiments performed show that YOLOv12 offers the best balance between detection accuracy and computational efficiency, while YOLOE manages to consistently outperform all other models across both datasets and most classes, particularly in detecting pathologies that cover a smaller area. Conclusions: This work provides a comprehensive benchmark of the capabilities of state-of-the-art object detection for medical applications, specifically for identifying retinal pathologies from OCT scans, offering insights and a starting point for the development of future automated solutions for analysis in a clinical setting. Full article

(This article belongs to the Special Issue Artificial Intelligence in Eye Disease, 3rd Edition)

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23 pages, 2304 KiB

Open AccessReview

Machine Learning for Coronary Plaque Characterization: A Multimodal Review of OCT, IVUS, and CCTA

by Alessandro Pinna, Alberto Boi, Lorenzo Mannelli, Antonella Balestrieri, Roberto Sanfilippo, Jasjit Suri and Luca Saba

Diagnostics 2025, 15(14), 1822; https://doi.org/10.3390/diagnostics15141822 - 19 Jul 2025

Cited by 1 | Viewed by 837

Abstract

Coronary plaque vulnerability, more than luminal stenosis, drives acute coronary syndromes. Optical coherence tomography (OCT), intravascular ultrasound (IVUS), and coronary computed tomography angiography (CCTA) visualize plaque morphology in vivo, but manual interpretation is time-consuming and operator-dependent. We performed a narrative literature survey of [...] Read more.

Coronary plaque vulnerability, more than luminal stenosis, drives acute coronary syndromes. Optical coherence tomography (OCT), intravascular ultrasound (IVUS), and coronary computed tomography angiography (CCTA) visualize plaque morphology in vivo, but manual interpretation is time-consuming and operator-dependent. We performed a narrative literature survey of artificial intelligence (AI) applications—focusing on machine learning (ML) architectures—for automated coronary plaque segmentation and risk characterization across OCT, IVUS, and CCTA. Recent ML models achieve expert-level lumen and plaque segmentation, reliably detecting features linked to vulnerability such as a lipid-rich necrotic core, calcification, positive remodelling, and a napkin-ring sign. Integrative radiomic and multimodal frameworks further improve prognostic stratification for major adverse cardiac events. Nonetheless, progress is constrained by small, single-centre datasets, heterogeneous validation metrics, and limited model interpretability. AI-enhanced plaque assessment offers rapid, reproducible, and comprehensive coronary imaging analysis. Future work should prioritize large multicentre repositories, explainable architectures, and prospective outcome-oriented validation to enable routine clinical adoption. Full article

(This article belongs to the Special Issue Machine Learning in Precise and Personalized Diagnosis)

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18 pages, 1405 KiB

Open AccessReview

Porto-Pulmonary Hypertension and Hepato-Pulmonary Syndrome: Diagnostic Procedures and Therapeutic Management

by Roberto G. Carbone, Francesco Puppo, Christopher A. Thomas and Vincenzo Savarino

Diagnostics 2025, 15(14), 1821; https://doi.org/10.3390/diagnostics15141821 - 19 Jul 2025

Viewed by 678

Abstract

The common cause of porto-pulmonary hypertension and hepato-pulmonary syndrome is portal hypertension. Porto-pulmonary hypertension (PPHTN) is a form of pulmonary arterial hypertension, and hepato-pulmonary syndrome (HPS) occurs as a consequence of hepatic injury or vascular disorders. Demographic characteristics, pathophysiology, screening, differential diagnosis, and [...] Read more.

The common cause of porto-pulmonary hypertension and hepato-pulmonary syndrome is portal hypertension. Porto-pulmonary hypertension (PPHTN) is a form of pulmonary arterial hypertension, and hepato-pulmonary syndrome (HPS) occurs as a consequence of hepatic injury or vascular disorders. Demographic characteristics, pathophysiology, screening, differential diagnosis, and treatment of both disorders are treated in this review. Oxygen supply and other medical managements combined with vasodilator drugs are adopted for PPHTN and HPS treatment, but these two clinical conditions also represent an indication for liver transplantation. Despite poor evidence, PPHTN is treated as idiopathic pulmonary arterial hypertension. The latter is combined with improved pulmonary hemodynamics permitting lung transplant. Lung transplant improves PPHTN in one-half of patients and has been associated with longer survival in selected patients. However, the risk of the latter procedure can be relevant as it is closely related to PPHTN severity. Large clinical trials and international guidelines may have a predominant role in increasing our knowledge of both PPHNT and HPS and in improving their outcome by favoring an early diagnosis and more accurate treatment. Full article

(This article belongs to the Special Issue Advancements in the Diagnosis and Management of Liver Disease and Liver Transplantation)

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16 pages, 814 KiB

Open AccessArticle

Evaluating ChatGPT-4 Plus in Ophthalmology: Effect of Image Recognition and Domain-Specific Pretraining on Diagnostic Performance

by Kevin Y. Wu, Shu Yu Qian and Michael Marchand

Diagnostics 2025, 15(14), 1820; https://doi.org/10.3390/diagnostics15141820 - 19 Jul 2025

Viewed by 582

Abstract

Background/Objectives: In recent years, the rapid advancements in artificial intelligence models, such as ChatGPT (version of 29 April 2024), have prompted interest from numerous domains of medicine, such as ophthalmology. As such, research is necessary to further assess its potential while simultaneously [...] Read more.

Background/Objectives: In recent years, the rapid advancements in artificial intelligence models, such as ChatGPT (version of 29 April 2024), have prompted interest from numerous domains of medicine, such as ophthalmology. As such, research is necessary to further assess its potential while simultaneously evaluating its shortcomings. Our study thus evaluates ChatGPT-4’s performance on the American Academy of Ophthalmology’s (AAO) Basic and Clinical Science Course (BCSC) Self-Assessment Program, focusing on its image recognition capabilities and its enhancement with domain-specific pretraining. Methods: The chatbot was tested on 1300 BCSC Self-Assessment Program questions, including text and image-based questions. Domain-specific pretraining was tested for performance improvements. The primary outcome was the model’s accuracy when presented with text and image-based multiple choice questions. Logistic regression and post hoc analyzes examined performance variations by question difficulty, image presence, and subspecialties. Results: The chatbot achieved an average accuracy of 78% compared with the average test-taker score of 74%. The repeatability kappa was 0.85 (95% CI: 0.82–0.87). Following domain-specific pretraining, the model’s overall accuracy increased to 85%. The accuracy of the model’s responses first depends on question difficulty (LR = 366), followed by image presence (LR = 108) and exam section (LR = 79). Conclusions: The chatbot appeared to be similar or superior to human trainee test takers in ophthalmology, even with image recognition questions. Domain-specific training appeared to have improved accuracy. While these results do not necessarily imply that the chatbot has the comprehensive skill level of a human ophthalmologist, the results suggest there may be educational value to these tools if additional investigations provide similar results. Full article

(This article belongs to the Special Issue Artificial Intelligence in Biomedical Imaging and Signal Processing)

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12 pages, 3566 KiB

Open AccessArticle

Differential Regulation of Angiogenesis, Lymphangiogenesis, and Neural Tissue in Normal and Inflamed Dental Pulp: Immunohistochemical Analysis

by Nooruldeen Ammar Alani and Bashar Hamid Abdullah

Diagnostics 2025, 15(14), 1819; https://doi.org/10.3390/diagnostics15141819 - 19 Jul 2025

Viewed by 449

Abstract

Background/Objectives: Pulp inflammation impairs healing, yet the underlying vascular and neural mechanisms remain poorly understood. This study investigated the differential regulation of lymphatic vessels, blood vessels, and neural tissue in pulpitis to elucidate healing limitations in inflamed dental pulp. Methods: This study evaluated [...] Read more.

Background/Objectives: Pulp inflammation impairs healing, yet the underlying vascular and neural mechanisms remain poorly understood. This study investigated the differential regulation of lymphatic vessels, blood vessels, and neural tissue in pulpitis to elucidate healing limitations in inflamed dental pulp. Methods: This study evaluated 38 pulp samples (14 symptomatic irreversible pulpitis, 13 asymptomatic irreversible pulpitis, and 11 healthy controls) via immunohistochemistry, using D2-40 to identify lymphatic vessels, CD31 to mark blood vessels, and PGP9.5 to detect neural tissue. Vessel counts and neural tissue scoring were performed by blinded examiners and analyzed using appropriate statistical tests. Results: Dental pulp with symptomatic irreversible pulpitis exhibited significantly increased blood vessel density (50.3 vs. 39.2 in asymptomatic irreversible pulpitis and 25.8 in controls, p = 0.001, Cohen’s d = 1.82), while lymphatic vessel density remained unchanged across all groups (p ≥ 0.05), indicating impaired lymphangiogenesis despite inflammation. Neural tissue density was consistent across conditions, with a significant negative correlation between PGP9.5 expression and age (r = −0.5, p = 0.001). CD31 and D2-40 expression showed a positive correlation (r = 0.389, p = 0.016), suggesting coordinated vascular development. Conclusions: Our findings reveal a critical imbalance between enhanced angiogenesis and impaired lymphangiogenesis during pulpitis, potentially explaining the compromised healing capacity of inflamed dental pulp. This vascular dysregulation, combined with persistent neural tissue density, creates an environment in which inflammatory exudates accumulate with limited clearance. These insights indicate a need for new therapeutic strategies aimed at enhancing lymphangiogenesis to improve endodontic outcomes. Full article

(This article belongs to the Section Pathology and Molecular Diagnostics)

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14 pages, 1778 KiB

Open AccessArticle

PET/CT Volumetric Parameters as Predictors of the Peritoneal Cancer Index in Advanced Ovarian Cancer Patients

by Ariel Glickman, Blanca Gil-Ibáñez, Aida Niñerola-Baizán, Marta Tormo, Núria Carreras-Dieguez, Pere Fusté, Marta Del Pino, Eduardo González-Bosquet, Inmaculada Romero-Zayas, Cristina Celada-Castro, Tiermes Marina, Lydia Gaba, Adela Rodriguez Hernández, Adela Saco, Laura Buñesch, Josep Lluís Carrasco, Katherine Quintero, David Fuster, Berta Díaz-Feijóo, Aureli Torné and Pilar Paredes Show full author list Hide full author list

Diagnostics 2025, 15(14), 1818; https://doi.org/10.3390/diagnostics15141818 - 19 Jul 2025

Viewed by 482

Abstract

Background: Assessment of the peritoneal cancer burden is crucial for determining the optimal treatment in advanced ovarian cancer (AOC). Effective non-invasive methods to predict tumour load remain limited. This study aimed to assess the applicability of 2-[¹⁸F]FDG PET/CT volumetric parameters, metabolic [...] Read more.

Background: Assessment of the peritoneal cancer burden is crucial for determining the optimal treatment in advanced ovarian cancer (AOC). Effective non-invasive methods to predict tumour load remain limited. This study aimed to assess the applicability of 2-[¹⁸F]FDG PET/CT volumetric parameters, metabolic tumour volume (MTV), and total lesion glycolysis (TLG) for predicting the surgical peritoneal cancer index (PCI) in AOC before primary treatment. Methods: Patients with high-grade serous or undifferentiated AOC who underwent surgical PCI evaluation and 2-[¹⁸F]FDG PET/CT between 01/2013 and 12/2018 were included. MTV and TLG were calculated using thresholds of 40% and 50% (MTV40, MTV50, TLG40, and TLG50). Correlations between the peritoneal carcinomatosis MTV (car_MTV) and TLG (car_TLG) were analysed. The capacity of volumetric parameters to estimate PCIs above or below 14 and 20 was assessed for the whole abdominal cavity and in per-quadrant analysis, specifically for upper-abdomen areas 1, 2, and 3 (MTV40_1, 2, 3 and TLG40_1, 2, 3). Results: MTV40, MTV50, TLG40, and TLG50 significantly correlated with the PCI in the final study population (n = 45). MTV40 showed a Pearson coefficient of 0.41 (p = 0.003). MTV3_40 (AUC 0.79) and TLG3_40 (AUC 0.81) presented the highest AUCs for predicting a PCI above or below 14. The volumetric parameters allowed the prediction of a PCI greater or less than 20, with an AUC of 0.77 for MTV40_1 and 0.78 for TLG40_1. Conclusions: 2-[¹⁸F]FDG PET/CT MTV and TLG correlate significantly with the surgical PCI when assessing peritoneal carcinomatosis or quadrant-specific disease. This approach offers a reliable non-invasive method for evaluating tumour burden in AOC. Full article

(This article belongs to the Special Issue Exploring Gynecological Pathology and Imaging)

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25 pages, 1897 KiB

Open AccessArticle

Diagnostic Potential of Volatile Organic Compounds in Detecting Insulin Resistance Among Taiwanese Women

by Fan-Min Lin, Jin-Hao Xu, Chih-Hao Shen, Sheng-Tang Wu and Ta-Wei Chu

Diagnostics 2025, 15(14), 1817; https://doi.org/10.3390/diagnostics15141817 - 18 Jul 2025

Viewed by 428

Abstract

Background: Insulin resistance (IR) is an underlying pathophysiology for type 2 diabetes (T2D). The Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) is the simplest method for evaluating IR. At the same time, volatile organic compounds (VOCs) detected in human respiration can be [...] Read more.

Background: Insulin resistance (IR) is an underlying pathophysiology for type 2 diabetes (T2D). The Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) is the simplest method for evaluating IR. At the same time, volatile organic compounds (VOCs) detected in human respiration can be correlated with specific diseases. To date, machine learning (Mach-L) has yet to be used to examine potential relationships between VOCs and IR. The present study has two aims: (1) to identify the VOCs most relevant to HOMA-IR, and (2) to use Shapley addictive explanation (SHAP) to determine the impacts of the distributions and directions of each feature in Taiwanese women. Methods: A total of 1432 Taiwanese women between the ages of 19 and 84 years were enrolled, and 344 VOCs were measured. Traditional multiple linear regression (MLR) was used as a benchmark for comparison, applying three Mach-L methods. Finally, SHAP was used to evaluate the directions of impacts of the features on HOMA-IR. Results: Six VOCs were identified as important: dimethylfuran, propanamine, aniline, butoxyethanol, and isopropyltoluene, in order from most to least important. SHAP found that dimethylfuran, isopropyltoluene, and dodecane were positively correlated to HOMA-IR, while butoxyethanol, aniline, and propanamine were negatively correlated. Conclusions: Using three different Mach-L methods, six VOCs were selected to be related to IR in Taiwanese women. According to their importance, dimethylfuran, propanamine, aniline, butoxyethanol, and isopropyltoluene could be used to help diagnose HOMA-IR. Furthermore, by using SHAP, dimethylfuran, isopropyltoluene, and dodecane had a positive and the other three had a negative influence. Full article

(This article belongs to the Special Issue Application of Machine Learning in Disease Screening, Diagnosis and Prognosis)

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5 pages, 2221 KiB

Open AccessInteresting Images

Spontaneous Terminal Ileum GIST Perforation Causing an Acute Abdomen in an Elderly Patient—A Rare Case

by Marko Zivanovic, Milica Mitrovic-Jovanovic, Katarina Stosic, Nemanja Bidzic, Dragan Vasin, Danijela Sekulic, Jovan Peric, Milan Zuvela, Teodor Vasic and Danijel Galun

Diagnostics 2025, 15(14), 1816; https://doi.org/10.3390/diagnostics15141816 - 18 Jul 2025

Viewed by 346

Abstract

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors primarily located in the stomach and small intestine; their occurrence in the terminal ileum is particularly rare. Although GISTs can develop throughout the gastrointestinal tract, cases of perforation in elderly individuals are even less common, [...] Read more.

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors primarily located in the stomach and small intestine; their occurrence in the terminal ileum is particularly rare. Although GISTs can develop throughout the gastrointestinal tract, cases of perforation in elderly individuals are even less common, posing significant diagnostic and therapeutic challenges. This case report describes an 86-year-old male patient with an acute abdomen caused by a terminal ileum perforated GIST requiring urgent surgical intervention. An immunohistochemical examination of the tumor confirmed a GIST with a GILT (gastrointestinal leiomyogenic tumor) immunophenotype. The rarity of this condition makes it diagnostically challenging, as its symptoms are often nonspecific, and GISTs are frequently overlooked, particularly in older patients. This case supplements the existing literature by emphasizing the importance of considering GIST perforation in the differential diagnosis of an acute abdomen, even in elderly patients and in rare anatomical locations. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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9 pages, 1044 KiB

Open AccessArticle

Differential Visual Outcomes in Neovascular AMD Based on Ellipsoid Zone Integrity and Fluid Presence: Insights from a Phase III Trial

by Justis P. Ehlers, Sari Yordi, Hasan Cetin, Reem Amine, Karen Matar, Asmita Indurkar, Katherine E. Talcott, Peter K. Kaiser, Arshad M. Khanani, Joanne Hu and Sunil K. Srivastava

Diagnostics 2025, 15(14), 1815; https://doi.org/10.3390/diagnostics15141815 - 18 Jul 2025

Viewed by 381

Abstract

Background/Objectives: To investigate the effect of ellipsoid zone (EZ) integrity and retinal fluid on best-corrected visual acuity (BCVA) in neovascular, age-related macular degeneration. Methods: This was a post hoc treatment-agnostic analysis of the phase 3 HAWK trial. Intraretinal fluid (IRF), subretinal [...] Read more.

Background/Objectives: To investigate the effect of ellipsoid zone (EZ) integrity and retinal fluid on best-corrected visual acuity (BCVA) in neovascular, age-related macular degeneration. Methods: This was a post hoc treatment-agnostic analysis of the phase 3 HAWK trial. Intraretinal fluid (IRF), subretinal fluid (SRF), and ellipsoid zone (EZ) integrity were quantified over 48 weeks. EZ integrity maintenance was defined as EZ-RPE central subfield thickness (CST) >20 µm; partial EZ attenuation was EZ-RPE CST >0 and ≤20 µm; total EZ attenuation was EZ-RPE CST = 0 µm. Results: During treatment, BCVA in eyes with no fluid (66.5 to 70.2 letters) was greater than in eyes with IRF (59.5 to 62.4 letters) but comparable to BCVA in eyes with SRF (64.9 to 68.8 letters). In eyes with no fluid, BCVA was consistently greater in eyes with EZ integrity maintained (73.4 to 78.4 letters) than in eyes with EZ partial attenuation (65.3 to 66.5 letters) or with EZ total attenuation (55.8 to 59.8 letters). Conclusions: Eyes without fluid with EZ preservation achieved the highest overall BCVA, especially when compared to eyes without fluid and a lack of EZ preservation and to eyes with SRF. Achieving a “dry” status with preservation of EZ integrity is important in optimizing visual outcomes. Full article

(This article belongs to the Section Biomedical Optics)

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11 pages, 1271 KiB

Open AccessArticle

Prevalence and Morphological Characteristics of the Femoral Head Ossification Nucleus in Chilean Infants: A Cross-Sectional Study

by Marcelo Ortega-Silva and Mariano del Sol

Diagnostics 2025, 15(14), 1814; https://doi.org/10.3390/diagnostics15141814 - 18 Jul 2025

Viewed by 392

Abstract

Background/Objectives: Developmental dysplasia of the hip (DDH) affects 1–3% of newborns and requires early detection for optimal outcomes. DDH involves abnormal acetabular–femoral congruence between the acetabulum and femoral head, resulting from either shallow acetabular development or delayed femoral ossification of the femoral head. [...] Read more.

Background/Objectives: Developmental dysplasia of the hip (DDH) affects 1–3% of newborns and requires early detection for optimal outcomes. DDH involves abnormal acetabular–femoral congruence between the acetabulum and femoral head, resulting from either shallow acetabular development or delayed femoral ossification of the femoral head. We evaluated the ossification nucleus of the femoral head (ONFH) to determine prevalence, radiographic timing, and associations with perinatal factors. Methods: We analyzed 100 pelvic radiographs of infants between 90 and 150 days of age. Participants were selected by convenience sampling, based on inclusion criteria. We identified the presence of ONFH and measured biometric parameters, morphology, and anatomical location. Sociodemographic and perinatal data were collected from the participating infants. Results: The prevalence of ONFH was 33%, and the mean age at visualization was 104 days. The presence of ONFH was correlated with birth weight (p = 0.011), discharge weight (p = 0.005), and weight at 1 month (p = 0.034). In our study, female sex (p = 0.004) was associated with a 4.966-fold higher odds of ONFH prevalence compared to males. Conclusions: This study provides relevant evidence regarding the prevalence, morphology, and characteristics of ONFH. Few studies report this information on ONFH in different populations. The optimal timing for radiographic visualization of ONFH in infants remains undefined, but the appearance of the ONFH was concentrated around 104 days of life. The novel association between weight and ONFH provides new insights into DDH. This provides new insights for DDH screening. This association warrants further research for the early detection of DDH. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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11 pages, 419 KiB

Open AccessArticle

Comparative Evaluation of Classic Mechanical and Digital Goldmann Applanation Tonometers

by Assaf Kratz, Ronit Yagev, Avner Belkin, Mordechai Goldberg, Alon Zahavi, Ivan Goldberg and Ahed Imtirat

Diagnostics 2025, 15(14), 1813; https://doi.org/10.3390/diagnostics15141813 - 18 Jul 2025

Viewed by 413

Abstract

Objectives: The objective of this study was to evaluate the agreement and clinical interchangeability of intraocular pressure (IOP) measurements obtained with the mechanical Haag-Streit AT900 Goldmann applanation tonometer (mGAT) and the digital Huvitz HT5000 applanation tonometer (dGAT). Methods: This retrospective comparative [...] Read more.

Objectives: The objective of this study was to evaluate the agreement and clinical interchangeability of intraocular pressure (IOP) measurements obtained with the mechanical Haag-Streit AT900 Goldmann applanation tonometer (mGAT) and the digital Huvitz HT5000 applanation tonometer (dGAT). Methods: This retrospective comparative study included 53 eyes of 28 patients undergoing routine ophthalmologic evaluation. Each eye underwent IOP measurement using both mGAT and dGAT in a randomized sequence. Central corneal thickness (CCT) was also recorded. Pearson’s correlation coefficient was used to determine correlation between paired IOP measurements. Bland–Altman plots were graphed for the analysis of differences for IOP between the instruments. Results: A total of 53 eyes of 28 patients (15 males) were included in the study. The mean age of the patients was 62.6 years. The mean mGAT and dGAT measurements were 16.3 ± 6.6 mmHg (range 9–50) and 16.4 ± 6.2 mmHg (range 8.8–45.9), respectively (p = 0.53). A strong, significant positive correlation was found for paired IOP measurements by the two instruments (r = 0.98; p < 0.0001). Bland–Altman analysis revealed 95% limits of agreement from −2.5 to +2.3 mmHg, with a small but statistically significant proportional bias favoring mGAT at higher IOP levels. Additionally, 91% of paired measurements were within ±2 mmHg. CCT-related differences were statistically and clinically insignificant. Conclusions: IOP measurements obtained with mGAT and dGAT were highly correlated and clinically interchangeable for the range tested. The Huvitz HT5000 may serve as a reliable alternative to the classic Goldmann tonometer in routine clinical settings. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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20 pages, 2723 KiB

Open AccessSystematic Review

Efficacy and Safety of Intravenous Thrombolysis Beyond 4.5 Hours in Ischemic Stroke: A Systematic Review and Meta-Analysis

by Muhammad Ahmad, Chavin Akalanka Ranasinghe, Mais Omar Abu-Sa’da, Durga Prasad Bhimineni, Muhammed Ameen Noushad, Talal Warsi, Ahmad Mesmar, Munikaverappa Anjanappa Mukesh, Sagar K. Patel, Gabriel Imbianozor, Ali Mustansir Bhatty, Ahmad Alareed, Quratul Ain, Eeshal Zulfiqar, Mushood Ahmed and Raheel Ahmed

Diagnostics 2025, 15(14), 1812; https://doi.org/10.3390/diagnostics15141812 - 18 Jul 2025

Viewed by 915

Abstract

Background: Intravenous thrombolysis (IVT) is the standard treatment for ischemic stroke within 4.5 h of symptom onset. However, a significant proportion of patients present beyond this window. This study aims to evaluate the efficacy and safety of IVT beyond the 4.5 h [...] Read more.

Background: Intravenous thrombolysis (IVT) is the standard treatment for ischemic stroke within 4.5 h of symptom onset. However, a significant proportion of patients present beyond this window. This study aims to evaluate the efficacy and safety of IVT beyond the 4.5 h window in selected patients. Methods: A systematic literature search was conducted across PubMed, Cochrane Library, and Google Scholar from inception to April 2025. Odds ratios (ORs) with 95% confidence intervals (CIs) were pooled using a random-effects model. Results: A total of 12 RCTs were included, with 3236 patients. Compared to controls, IVT significantly improved excellent functional outcomes [OR: 1.40; 95% CI: 1.21–1.62] and good functional outcomes [OR: 1.26; 95% CI: 1.06–1.50] at 90 days. IVT also improved recanalization [OR: 2.47; 95% CI: 1.96–3.12], reperfusion [OR: 2.20; 95% CI: 1.26–3.84], and early neurological improvement [OR: 1.91; 95% CI: 1.12–3.26]. However, it was associated with a significantly higher risk of symptomatic intracranial hemorrhage (sICH) [OR: 2.17; 95% CI: 1.25–3.79], any ICH [OR: 1.49; 95% CI: 1.09–2.04], and type-II parenchymal hemorrhage (PH) [OR: 2.14; 95% CI: 1.19–3.83]. No significant difference was observed in systemic hemorrhage, 90-day all-cause mortality, 7-day mortality, or 90-day intervention-related mortality (p > 0.05). Conclusions: IVT beyond 4.5 h improves neurological outcomes in patients with ischemic stroke without increasing overall mortality or systemic bleeding, though it raises the risk of sICH, any ICH, and type-II PH. Further large RCTs are needed to confirm these findings and guide clinical practice. Full article

(This article belongs to the Topic Diagnosis and Management of Acute Ischemic Stroke)

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9 pages, 623 KiB

Open AccessCase Report

Prenatal Diagnosis and Management of Tuberous Sclerosis Complex with Cardiac Rhabdomyoma: A Case Report Highlighting the Role of Sirolimus and Postnatal Complications

by David Asael Rodríguez-Torres, Joel Arenas-Estala, Ramón Gerardo Sánchez-Cortés, Iván Vladimir Dávila-Escamilla, Adriana Nieto-Sanjuanero and Graciela Arelí López-Uriarte

Diagnostics 2025, 15(14), 1811; https://doi.org/10.3390/diagnostics15141811 - 18 Jul 2025

Cited by 1 | Viewed by 444

Abstract

Background and Clinical Significance: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2. Cardiac rhabdomyoma is a common prenatal finding and can be associated with severe complications, including pericardial effusion. We administered prenatal sirolimus to [...] Read more.

Background and Clinical Significance: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2. Cardiac rhabdomyoma is a common prenatal finding and can be associated with severe complications, including pericardial effusion. We administered prenatal sirolimus to mitigate pericardial effusion, which led to postnatal complications. Case Presentation: A 28-year-old pregnant woman with no significant family history underwent routine fetal ultrasound at 28.1 weeks of gestation, which identified a large right ventricular mass consistent with rhabdomyoma. Further fetal brain MRI revealed cortical-subcortical tubers and subependymal nodules, leading to a clinical diagnosis of TSC. At 30.4 weeks, oral sirolimus (3 mg/day) was started due to the significant pericardial effusion. The effusion remained after treatment, requiring pericardiocentesis at 33.6 weeks. The sirolimus dosage was raised to 6 mg/day at 35.6 weeks, reaching a plasma level of 3.76 ng/mL, but there was no discernible improvement because of the continued fluid accumulation. The mother did not experience any adverse side effects from the procedure. Genetic testing confirmed a pathogenic variant in TSC2 (c.1372C>T). After birth, the neonate received a single dose of sirolimus but subsequently developed necrotizing enterocolitis (NEC), highlighting the potential adverse effects and the need for cautious consideration of treatment options. Conclusions: This case illustrates the complexities of managing prenatal tuberous sclerosis complex (TSC). While sirolimus has been explored for fetal cardiac rhabdomyoma and associated complications, its effectiveness in resolving pericardial effusion remains uncertain. Additionally, the development of NEC postnatally raises concerns about the safety of mTOR inhibitors in this context. Further studies are necessary to assess the risks and benefits of this approach in fetal therapy. Full article

(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine, 3rd Edition)

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16 pages, 2427 KiB

Open AccessReview

Pancreatic Cancer Resectability After Neoadjuvant Treatment: An Imaging Challenge

by Ioannis Christofilis, Charikleia Triantopoulou and Spiros Delis

Diagnostics 2025, 15(14), 1810; https://doi.org/10.3390/diagnostics15141810 - 18 Jul 2025

Viewed by 614

Abstract

Background: Assessing pancreatic ductal adenocarcinoma (PDAC) resectability after neoadjuvant therapy (NAT) remains a diagnostic challenge. Traditional computed tomography (CT) criteria often fail to distinguish viable tumor from fibrosis, necessitating a reassessment of imaging-based standards. Methods: A comprehensive literature review was conducted using PubMed, [...] Read more.

Background: Assessing pancreatic ductal adenocarcinoma (PDAC) resectability after neoadjuvant therapy (NAT) remains a diagnostic challenge. Traditional computed tomography (CT) criteria often fail to distinguish viable tumor from fibrosis, necessitating a reassessment of imaging-based standards. Methods: A comprehensive literature review was conducted using PubMed, focusing on prospective and retrospective studies over the past 25 years that evaluated the role of CT and complementary imaging modalities (MRI, PET-CT) in predicting resectability post-NAT in non-metastatic PDAC. Studies with small sample sizes or case reports were excluded. Results: Across studies, conventional CT parameters—particularly >180° vascular encasement—showed a limited correlation with histologic invasion or surgical outcomes after NAT. Persistent vessel contact on CT often reflected fibrosis, rather than active tumor. Dynamic changes, such as regression in the tumor–vessel interface and vessel lumen restoration, correlated more accurately with R0 resection. Adjunct markers like CA 19-9 response and patient performance status further improved resectability prediction. Conclusions: CT-based resectability assessment after NAT should transition from static morphologic criteria to response-based interpretation. Multidisciplinary evaluation integrating radiologic, biochemical, and clinical findings is essential to guide surgical decision-making and improve patient outcomes. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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12 pages, 1408 KiB

Open AccessArticle

Association of Lipoprotein A rs10455872 Polymorphism with Childhood Obesity and Obesity-Related Outcomes

by Ayşen Haksayar, Mustafa Metin Donma, Bahadır Batar, Buse Tepe, Birol Topçu and Orkide Donma

Diagnostics 2025, 15(14), 1809; https://doi.org/10.3390/diagnostics15141809 - 18 Jul 2025

Viewed by 463

Abstract

Background/Objectives: Obesity is associated with cardiovascular disease worldwide. An increased lipoprotein A (LpA) level is an independent risk factor for cardiovascular disease in children. Genetic polymorphisms of the LPA gene may play an important role in susceptibility to obesity. The aim of this [...] Read more.

Background/Objectives: Obesity is associated with cardiovascular disease worldwide. An increased lipoprotein A (LpA) level is an independent risk factor for cardiovascular disease in children. Genetic polymorphisms of the LPA gene may play an important role in susceptibility to obesity. The aim of this study was to investigate the association of LPA rs10455872 polymorphism with the risk and clinical phenotypes of childhood obesity. Methods: This study included 103 children with obesity and 77 healthy controls. Genotyping of the LPA rs10455872 polymorphism was performed using real-time PCR. Results: The genotype distributions of the LPA rs10455872 polymorphism did not differ significantly between children with obesity and healthy children (p = 0.563). A marked difference in insulin levels was observed between children with obesity carrying the AG (16.90 IU/mL) and AA (25.57 IU/mL) genotypes. A marked difference was also observed in CRP levels between children with obesity with the AG (2.31 mg/L) and AA (4.25 mg/L) genotypes. After correcting for multiple comparisons using the false discovery rate (FDR), significant differences were found between AG and AA genotypes in vitamin B12 (adjusted p = 0.024). Serum iron showed a borderline association (adjusted p = 0.072). A statistically significant correlation was found between the metabolic syndrome index and body fat ratio among children with obesity with the AA genotype (p = 0.028). Conclusions: Although limited by the small number of children with obesity with the AG genotype, some differences were noted between the AG and AA genotypes. These exploratory findings require further investigation in adequately powered studies. In children with obesity with the AA genotype, the metabolic syndrome index increases as the body fat ratio increases. Full article

(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)

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15 pages, 3893 KiB

Open AccessArticle

Exploration of 3D Few-Shot Learning Techniques for Classification of Knee Joint Injuries on MR Images

by Vinh Hiep Dang, Minh Tri Nguyen, Ngoc Hoang Le, Thuan Phat Nguyen, Quoc-Viet Tran, Tan Ha Mai, Vu Pham Thao Vy, Truong Nguyen Khanh Hung, Ching-Yu Lee, Ching-Li Tseng, Nguyen Quoc Khanh Le and Phung-Anh Nguyen

Diagnostics 2025, 15(14), 1808; https://doi.org/10.3390/diagnostics15141808 - 18 Jul 2025

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Abstract

Accurate diagnosis of knee joint injuries from magnetic resonance (MR) images is critical for patient care. Background/Objectives: While deep learning has advanced 3D MR image analysis, its reliance on extensive labeled datasets is a major hurdle for diverse knee pathologies. Few-shot learning [...] Read more.

Accurate diagnosis of knee joint injuries from magnetic resonance (MR) images is critical for patient care. Background/Objectives: While deep learning has advanced 3D MR image analysis, its reliance on extensive labeled datasets is a major hurdle for diverse knee pathologies. Few-shot learning (FSL) addresses this by enabling models to classify new conditions from minimal annotated examples, often leveraging knowledge from related tasks. However, creating robust 3D FSL frameworks for varied knee injuries remains challenging. Methods: We introduce MedNet-FS, a 3D FSL framework that effectively classifies knee injuries by utilizing domain-specific pre-trained weights and generalized end-to-end (GE2E) loss for discriminative embeddings. Results: MedNet-FS, with knee-MRI-specific pre-training, significantly outperformed models using generic or other medical pre-trained weights and approached supervised learning performance on internal datasets with limited samples (e.g., achieving an area under the curve (AUC) of 0.76 for ACL tear classification with k = 40 support samples on the MRNet dataset). External validation on the KneeMRI dataset revealed challenges in classifying partially torn ACL (AUC up to 0.58) but demonstrated promising performance for distinguishing intact versus fully ruptured ACLs (AUC 0.62 with k = 40). Conclusions: These findings demonstrate that tailored FSL strategies can substantially reduce data dependency in developing specialized medical imaging tools. This approach fosters rapid AI tool development for knee injuries and offers a scalable solution for data scarcity in other medical imaging domains, potentially democratizing AI-assisted diagnostics, particularly for rare conditions or in resource-limited settings. Full article

(This article belongs to the Special Issue New Technologies and Tools Used for Risk Assessment of Diseases)

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21 pages, 1736 KiB

Open AccessReview

Molecular Diagnostics in Heart Failure: From Biomarkers to Personalized Medicine

by Ovidiu Țica and Otilia Țica

Diagnostics 2025, 15(14), 1807; https://doi.org/10.3390/diagnostics15141807 - 17 Jul 2025

Cited by 2 | Viewed by 568

Abstract

Heart failure (HF) is a global health burden characterized by high morbidity and mortality, necessitating advancements in diagnostic and therapeutic approaches. Molecular diagnostics, encompassing genomics, transcriptomics, proteomics, metabolomics, and epigenetics, offer unprecedented insights into HF pathogenesis, aiding early diagnosis, risk stratification, and personalized [...] Read more.

Heart failure (HF) is a global health burden characterized by high morbidity and mortality, necessitating advancements in diagnostic and therapeutic approaches. Molecular diagnostics, encompassing genomics, transcriptomics, proteomics, metabolomics, and epigenetics, offer unprecedented insights into HF pathogenesis, aiding early diagnosis, risk stratification, and personalized management. This state-of-the-art review critically examines recent developments in molecular diagnostics in HF, evaluates their translational potential, and highlights key challenges in clinical implementation. Emerging tools such as liquid biopsy, multi-omics integration, and artificial intelligence (AI)-driven platforms are explored. We propose strategies to enhance clinical translation, equity in access, and utility in guiding treatment, thereby advancing precision cardiovascular medicine Full article

(This article belongs to the Special Issue Molecular Diagnostics in Cardiovascular Diseases: From Biomarkers to Personalized Medicine)

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14 pages, 3655 KiB

Open AccessArticle

Role of CT Coronary Angiography at Initial Presentation in Kawasaki Disease—Insights from a Tertiary Care Center in North India

by Manphool Singhal, Rakesh Kumar Pilania, Suprit Basu, Dev Desai, Abarna Thangaraj, Ripudaman Singh, Radhika Semwal, Taranpreet Kaur, Gopika Sri, Murugan Sudhakar, Arun Sharma, Pandiarajan Vignesh, Deepti Suri and Surjit Singh

Diagnostics 2025, 15(14), 1806; https://doi.org/10.3390/diagnostics15141806 - 17 Jul 2025

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Abstract

Background: Kawasaki disease (KD) is a systemic vasculitis and the leading cause of acquired heart disease in children. Early identification of coronary artery abnormalities (CAAs) is crucial to guide treatment and improve outcomes. While transthoracic 2D echocardiography (TTE) remains the first-line imaging [...] Read more.

Background: Kawasaki disease (KD) is a systemic vasculitis and the leading cause of acquired heart disease in children. Early identification of coronary artery abnormalities (CAAs) is crucial to guide treatment and improve outcomes. While transthoracic 2D echocardiography (TTE) remains the first-line imaging modality, it has limitations, particularly in visualizing distal coronary artery segments and detecting thrombi. Computed tomography coronary angiography (CTCA) offers enhanced visualization, but its role at initial presentation of KD remains underexplored. Methods: We reviewed the records of 71 children with KD who underwent CTCA at their initial presentation at a tertiary center between November 2013 and December 2024. The CTCA findings were compared with those of TTE. CTCA was performed after stabilization using radiation-minimized protocols. Results: Of 71 patients, 62 had CAAs on baseline TTE. CTCA confirmed CAAs in 39 patients, identified additional lesions in 23, and detected distal aneurysms and coronary branch involvement missed by TTE. In 20 patients with initially abnormal TTE, CTCA demonstrated normal coronaries, facilitating treatment de-escalation. CTCA identified coronary thrombi missed on TTE in two patients and congenital coronary anomalies in three patients. CTCA findings led to modification of therapy in multiple cases. Conclusions: CTCA is a valuable adjunct to TTE in evaluating coronary artery involvement at the time of initial presentation of children with KD. Given its superior visualization of the entire length of coronary arteries, CTCA has a vital role in therapeutic decision-making in KD. Full article

(This article belongs to the Special Issue Grand Challenges in the Diagnosis and Management of Cardiovascular and Cerebrovascular Diseases)

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Diagnostics, Volume 15, Issue 14 (July-2 2025) – 107 articles

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