Diagnostics

24 pages, 6919 KB

Open AccessReview

Genetic Disorders Detectable by Fetal MRI: A Review

by Kwok Chun Wong, Tsz Ho Chow, Claudia Cheung, Joyce Pui Kwan Chan, Jonan Chun Yin Lee, Elaine Yee Ling Kan and Winnie Chiu Wing Chu

Diagnostics 2026, 16(7), 1112; https://doi.org/10.3390/diagnostics16071112 - 7 Apr 2026

Viewed by 779

Abstract

Fetal MRI has been increasingly used in diagnosis and assessment of congenital anomalies and conditions by providing detailed structural information. However, such information is only part of the whole landscape of these genetic disorders. Given that genetic disorders are associated with significant morbidity [...] Read more.

Fetal MRI has been increasingly used in diagnosis and assessment of congenital anomalies and conditions by providing detailed structural information. However, such information is only part of the whole landscape of these genetic disorders. Given that genetic disorders are associated with significant morbidity and mortality in infants, multidisciplinary team management is essential for perinatal management and parental counseling. In the past two decades, there are advances in both fetal MRI and genetic testing for prenatal diagnosis of genetic disorders. This narrative review consolidates the current literature and aims to provide a systematic overview of fetal MRI applications in genetic disorders affecting the central nervous system, craniofacial structures, skeletal system, lungs, and urinary system. Understanding embryological and genetic basis as well as imaging phenotypes of genetic disorders are important in improving perinatal diagnosis and management. Full article

(This article belongs to the Special Issue Recent Advances in Genomics for Prenatal Diagnosis)

► Show Figures

Figure 1

13 pages, 2088 KB

Open AccessArticle

Functional Magnetic Resonance Imaging for Investigating the Role of the Hippocampus in Migraine with Aura

by Mojsije Radović, Marko Daković, Aleksandra Radojičić and Igor Petrušić

Diagnostics 2026, 16(7), 1111; https://doi.org/10.3390/diagnostics16071111 - 7 Apr 2026

Viewed by 585

Abstract

Background/Objectives: Migraine with aura (MwA) is a heterogeneous disorder comprising pure visual aura (MwAv) and more complex phenotypes with additional somatosensory and/or dysphasic symptoms (MwAvsd). Previous structural magnetic resonance imaging (MRI) studies have demonstrated hippocampal subfield volume reductions associated with aura complexity, [...] Read more.

Background/Objectives: Migraine with aura (MwA) is a heterogeneous disorder comprising pure visual aura (MwAv) and more complex phenotypes with additional somatosensory and/or dysphasic symptoms (MwAvsd). Previous structural magnetic resonance imaging (MRI) studies have demonstrated hippocampal subfield volume reductions associated with aura complexity, suggesting a role for the hippocampus in MwA pathophysiology. However, functional network mechanisms underlying these structural differences remain unclear. This study aimed to investigate hippocampal resting-state functional connectivity (FC) in MwA subtypes and healthy controls (HCs), and to determine whether hippocampal connectivity patterns differ according to aura complexity. Methods: In this comparative cross-sectional study, 27 patients with MwAvsd, 18 with MwAv, and 29 age- and sex-matched HCs underwent resting-state functional MRI on a 3T scanner. Seed-based FC analyses were performed using both hippocampi as regions of interest. Results: MwAvsd patients demonstrated significantly increased FC between the right hippocampus and the left dorsal parietal cortex and right sensory association cortex compared with MwAv patients. In contrast, MwAv patients showed increased FC between the left hippocampus and the right dorsolateral prefrontal cortex compared with MwAvsd patients. Additionally, MwAv patients exhibited stronger FC between the left hippocampus and bilateral anterior prefrontal cortices and the left angular cortex compared with HCs. No other significant hippocampal FC differences were observed. Conclusions: Hippocampal FC is altered in MwA and varies according to aura phenotype. Complex aura is characterized by enhanced hippocampal coupling with multisensory integration regions and reduced connectivity with executive control areas, whereas pure visual aura demonstrates increased hippocampal–prefrontal and hippocampal–parietal associative connectivity compared with HCs. These findings suggest that the hippocampus might serve as a target for future neuromodulatory and therapeutic investigations in MwA patients. Full article

(This article belongs to the Special Issue Advanced Neuroimaging Analysis: From Data to Diagnosis)

► Show Figures

Figure 1

16 pages, 2526 KB

Open AccessSystematic Review

Meta-Analytic Modeling to Define Decision Thresholds for Cerebrospinal Fluid Heparin-Binding Protein in Healthcare-Associated Ventriculitis and Meningitis

by Hsiang-Yi Hung, Po-An Su, Pei-Chun Lai and Yen-Ta Huang

Diagnostics 2026, 16(7), 1110; https://doi.org/10.3390/diagnostics16071110 - 7 Apr 2026

Viewed by 605

Abstract

Background/Objectives: Healthcare-associated ventriculitis and meningitis (HAVM) is a life-threatening complication of neurosurgical procedures. Conventional cerebrospinal fluid (CSF) indices cannot reliably distinguish bacterial infection from sterile postoperative inflammation, and cultures are frequently delayed or negative. We conducted the first systematic review and meta-analysis to [...] Read more.

Background/Objectives: Healthcare-associated ventriculitis and meningitis (HAVM) is a life-threatening complication of neurosurgical procedures. Conventional cerebrospinal fluid (CSF) indices cannot reliably distinguish bacterial infection from sterile postoperative inflammation, and cultures are frequently delayed or negative. We conducted the first systematic review and meta-analysis to determine the pooled diagnostic accuracy of CSF heparin-binding protein (HBP) for HAVM and to establish clinically actionable decision thresholds. Methods: PubMed, Embase, the Cochrane Library, and China National Knowledge Infrastructure were searched from inception to 15 February 2026. Risk of bias was assessed using QUADAS-3. Sensitivity and specificity were pooled with a bivariate random-effects model, and heterogeneity was explored through subgroup analyses and metaregression. Thresholds were derived using likelihood ratio (LR)-based and diagmeta cutoff modeling. Results: Twelve studies (n = 1761) were included. Pooled sensitivity was 0.861 (95% confidence interval [CI]: 0.777–0.917) and specificity was 0.848 (95% CI: 0.781–0.897), with a positive LR (LR+) of 5.65 and a negative LR (LR−) of 0.164. At a 50% pretest probability, post-test probability was increased to 85% by a positive result and reduced to 14% by a negative result. Intracerebral hemorrhage cohorts showed lower accuracy (sensitivity: 0.675, specificity: 0.755), whereas brain tumor-predominant cohorts demonstrated the highest performance (sensitivity: 0.935, specificity: 0.922; p = 0.017). Thresholds of ≥41.3 (rule-in; LR+ ≥10) and ≤30.1 ng/mL (rule-out; LR− ≤0.1) defined clinically actionable decision zones. Conclusions: CSF HBP provides quantitatively defined rule-in and rule-out thresholds that meaningfully shift the post-test probability and may support antimicrobial decision-making in suspected HAVM. Prospective multicenter validation is warranted. Full article

(This article belongs to the Special Issue 21st Century Point-of-Care, Near-Patient and Critical Care Testing—2nd Edition)

► Show Figures

Figure 1

16 pages, 3227 KB

Open AccessArticle

A Comprehensive Analysis of Diagnostic and Virological Surveillance During the 2023–2025 Measles Epidemic Scenario

by Martina Franceschiello, Martina Tamburello, Giulia Piccirilli, Eva Caterina Borgatti, Federica Lanna, Alessia Bertoldi, Simona Venturoli, Giada Rossini, Silvia Gioacchini, Melissa Baggieri, Fabio Magurano, Michela Morri, Giulio Matteo, Christian Cintori, Giovanna Mattei, Vittorio Lodi, Liliana Gabrielli and Tiziana Lazzarotto

Diagnostics 2026, 16(7), 1109; https://doi.org/10.3390/diagnostics16071109 - 7 Apr 2026

Viewed by 769

Abstract

Background/Objectives: Since 2023, a significant increase in measles cases has been reported worldwide, and Italy has been among the most affected European countries. In this context, the integration of laboratory and epidemiological data enables timely case classification and helps distinguish between imported [...] Read more.

Background/Objectives: Since 2023, a significant increase in measles cases has been reported worldwide, and Italy has been among the most affected European countries. In this context, the integration of laboratory and epidemiological data enables timely case classification and helps distinguish between imported and indigenous cases, supporting disease control. However, most studies address only selected aspects of surveillance. Therefore, this study aimed to provide an integrated analysis of virological and epidemiological surveillance activities conducted between November 2023 and December 2025 by the Regional Reference Laboratory in the Emilia-Romagna Region (ERR). Methods: A total of 806 clinical samples (269 urine, 267 oral fluids—saliva or oropharyngeal swabs—and 270 sera) from 291 suspected measles cases were tested by molecular and/or serological methods, and MV genotyping was performed. Samples from discarded cases were also analysed for parvovirus B19 (B19V), human herpesvirus 6 (HHV-6), enterovirus (EV), and varicella zoster virus (VZV), chikungunya virus (CHIKV) and dengue virus (DENV). Results: Of 291 suspected cases, 176 (60.5%) were confirmed. Median age was 33 years, with 46% in the 15–39 year group. Vaccination status was available for 165: 90.3% were unvaccinated, 5.4% had one dose, and 4.2% had two doses. Notably, over half of confirmed cases occurred in areas with vaccine-hesitant communities. MV strain characterisation was performed in 99.4% of MV-RNA positive cases, with 84.3% genotype D8 and 15.6% genotype B3; 83% of strains were of indigenous origin, suggesting an ongoing endemic circulation. Clinical data showed complications in 19.3%, mainly pneumonia and diarrhoea. Additionally, differential diagnosis enabled the identification of the etiological agent in 37.5% of measles/rubella discarded cases, and 37.6% (29/77) tested positive for B19V. Conclusions: The study results highlight that effective measles surveillance must be supported by integrating timely virological diagnosis, molecular and epidemiological investigations, and differential diagnosis, to achieve the WHO goals of eliminating measles transmission. Full article

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

► Show Figures

Figure 1

13 pages, 4166 KB

Open AccessArticle

Preoperative Gadoxetic-Acid-Enhanced MRI Features Associated with Rapid Recurrence (<6 Months) After Curative Resection for Hepatocellular Carcinoma

by Jeong Woo Kim and Chang Hee Lee

Diagnostics 2026, 16(7), 1108; https://doi.org/10.3390/diagnostics16071108 - 7 Apr 2026

Viewed by 503

Abstract

Background/Objectives: To evaluate the incidence of rapid recurrence within 6 months of curative resection for hepatocellular carcinoma (HCC) and to identify preoperative gadoxetic-acid-enhanced MRI features associated with rapid recurrence (<6 months) in the entire cohort. Methods: This retrospective study included 200 [...] Read more.

Background/Objectives: To evaluate the incidence of rapid recurrence within 6 months of curative resection for hepatocellular carcinoma (HCC) and to identify preoperative gadoxetic-acid-enhanced MRI features associated with rapid recurrence (<6 months) in the entire cohort. Methods: This retrospective study included 200 patients who underwent curative resection for HCC and had preoperative gadoxetic-acid-enhanced MRI between January 2016 and December 2023. Patients were categorized into a rapid recurrence group (n = 21) and a non-rapid recurrence group (n = 179). Preoperative MRI features, including tumor size, multiplicity, tumor margin, arterial peritumoral enhancement, peritumoral hepatobiliary phase (HBP) hypointensity, diffusion restriction, apparent diffusion coefficient (ADC) values, and presence of non-hypervascular hepatobiliary phase hypointense nodule (NHHN), were evaluated. Univariate and multivariate Firth penalized logistic regression analyses were performed. Results: Rapid recurrence occurred in 10.5% (21/200) of patients (median, 4.0 months). Multivariate analysis revealed that larger tumor size (odds ratio [OR], 1.25 per 1-cm increase; p = 0.012) and the presence of NHHN (OR, 11.30; p < 0.001) were independent predictors of rapid recurrence. A nomogram incorporating these features demonstrated excellent discriminative performance, with a bootstrap-corrected area under the curve (AUC) of 0.864 (95% CI, 0.791–0.922). Conclusions: The presence of NHHN and larger tumor size on preoperative MRI were associated with rapid recurrence (<6 months) after curative resection for HCC. These findings may provide additional support for preoperative risk stratification and the planning of postoperative surveillance strategies. Full article

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

► Show Figures

Figure 1

16 pages, 3614 KB

Open AccessArticle

Corneal Toxicity of Mirvetuximab Soravtansine: Multimodal Imaging Features and Implications for Ophthalmologic Management

by Francesco De Dominicis, Andrea Giudiceandrea, Martina Cocuzza, Simone Bruzio, Romina Fasciani, Luigi Mosca, Chiara Giudiceandrea, Matteo Salgarello, Epifanio Giudiceandrea, Filippo Amore, Stanislao Rizzo, Maria Vittoria Carbone, Vanda Salutari, Anna Fagotti and Tommaso Salgarello

Diagnostics 2026, 16(7), 1107; https://doi.org/10.3390/diagnostics16071107 - 7 Apr 2026

Viewed by 734

Abstract

Background: Mirvetuximab soravtansine (MIRV) improves outcomes in FRα-positive, platinum-resistant ovarian cancer; however ocular adverse events (OAEs), particularly corneal epithelial toxicity, are frequent and warrant structured ophthalmologic monitoring. Methods: In this retrospective observational study, 31 consecutive patients receiving MIRV for FRα-positive gynecologic malignancies underwent [...] Read more.

Background: Mirvetuximab soravtansine (MIRV) improves outcomes in FRα-positive, platinum-resistant ovarian cancer; however ocular adverse events (OAEs), particularly corneal epithelial toxicity, are frequent and warrant structured ophthalmologic monitoring. Methods: In this retrospective observational study, 31 consecutive patients receiving MIRV for FRα-positive gynecologic malignancies underwent standardized ophthalmic assessments at baseline and prior to each treatment cycle (every 21 days). The protocol included best corrected visual acuity (BCVA), slit-lamp biomicroscopy, anterior-segment optical coherence tomography (AS-OCT), corneal topography, and tear film analysis. OAEs were graded according to the Common Terminology Criteria for Adverse Events (CTCAE) v5.0, based on symptom severity and functional impairment. Results: OAEs occurred in all patients (31/31, 100%), predominantly grade 1–2. Corneal epithelial toxicity was documented in 28/31 patients (90.3%), while no grade ≥ 3 events were observed. Symptoms typically developed 7–14 days after the second infusion. AS-OCT and corneal topography consistently revealed epithelial microcysts and surface irregularities, which were usually detected during scheduled pre-cycle ophthalmologic evaluations. Tear-film instability (break-up time ≤ 5 s) developed in 19/31 patients (61.3%), generally within 10 days after the second infusion, and improved in all but 2 patients (6.5%) following prophylactic lubrication. Transient refractive changes occurred in 28/31 patients (90.3%) and were associated with a temporary BCVA reduction (mean nadir ~20/32 Snellen), followed by recovery during follow-up. Conclusions: MIRV-related ocular alterations are frequent but reversible and clinically manageable. Multimodal imaging combined with functional and refractive assessment provides sensitive markers of corneal epithelial toxicity and supports integrated ophthalmologic monitoring to preserve visual function and maintain oncologic treatment continuity. Full article

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

► Show Figures

Figure 1

15 pages, 1808 KB

Open AccessArticle

Investigation of the Prevalence of Associated Genetic Mutations (Co-Mutations) in Patients with Actionable Driver Mutations in Lung Cancer: A Retrospective Study

by Abed Agbarya, Walid Shalata, Edmond Sabo, Leonard Saiegh, Yuval Shaham, Haitam Nasrallah, Kamel Mhameed, Salam Mazareb, Mohammad Sheikh-Ahmad and Dan Levy Faber

Diagnostics 2026, 16(7), 1106; https://doi.org/10.3390/diagnostics16071106 - 7 Apr 2026

Viewed by 761

Abstract

Background/Objectives: Lung cancer remains the leading cause of cancer-related mortality globally. Approximately 45% of these tumors harbor oncogenic mutations that drive carcinogenesis and are amenable to targeted therapies. Other predictive biomarkers—e.g., PD-L1, TMB, and MSI—play a crucial role in patients’ management. This [...] Read more.

Background/Objectives: Lung cancer remains the leading cause of cancer-related mortality globally. Approximately 45% of these tumors harbor oncogenic mutations that drive carcinogenesis and are amenable to targeted therapies. Other predictive biomarkers—e.g., PD-L1, TMB, and MSI—play a crucial role in patients’ management. This study aims to investigate the existence of mutation clusters (co-mutations) and evaluate the correlation of these clusters with various clinical and laboratory parameters. Methods: A retrospective study was conducted utilizing pathological samples from lung cancer patients harboring mutations in EGFR, KRAS, ALK, BRAF, MET, HER2, ROS1, NTRK, and NRG1. Data were collected from the Institute of Pathology at Carmel Medical Center between the years 2022 and 2024. Patients were stratified using a Two-Step Cluster Analysis algorithm based on actionable mutations and co-mutations. Heatmaps and dendrograms were generated to assess the correlation between these genomic clusters, clinical metrics, and predictive biomarkers. Results: The study cohort included 129 patients with actionable mutations. Five distinct clusters were identified: Clusters 1, 2, and 3 exhibited a high expression of STK11 and TP53 co-mutations alongside KRAS drivers (n = 38, n = 12, and n = 23, respectively). Clusters 4 and 5 demonstrated high expression of ALK alterations and tumor suppressor gene mutations (n = 31 and n = 25, respectively). Cluster comparisons demonstrated statistically significant differences between clusters regarding age, gender, PD-L1 expression, and tumor mutational burden. No significant associations were found regarding ethnicity or microsatellite instability status. Conclusions: By constructing clusters based on the aggregate of genomic alterations in patients with actionable mutations, it is possible to predict associations with distinct demographic and clinical characteristics. Future research should apply this analytical approach to larger cohorts to further characterize these subgroups and investigate potential correlations with therapeutic efficacy. Full article

(This article belongs to the Special Issue Advancements and Innovations in the Diagnosis of Lung Cancer)

► Show Figures

Figure 1

15 pages, 1632 KB

Open AccessArticle

Reliability of AI-Automated and Semiautomated Upper Airway Volume Segmentation

by Natalia Chwarścianek, Natalia Kazimierczak, Zbigniew Serafin and Wojciech Kazimierczak

Diagnostics 2026, 16(7), 1105; https://doi.org/10.3390/diagnostics16071105 - 7 Apr 2026

Viewed by 572

Abstract

Background/Objective: To evaluate the reliability, diagnostic accuracy and time efficiency of an artificial intelligence (AI)-automated method (CephX) and a semiautomated method (INVIVO) for upper airway segmentation, the manual digital method (ITK-SNAP) was used as the reference standard. Methods: This retrospective study [...] Read more.

Background/Objective: To evaluate the reliability, diagnostic accuracy and time efficiency of an artificial intelligence (AI)-automated method (CephX) and a semiautomated method (INVIVO) for upper airway segmentation, the manual digital method (ITK-SNAP) was used as the reference standard. Methods: This retrospective study analyzed cone-beam computed tomography (CBCT) scans from 133 patients. The upper airway volume and narrowest cross-sectional area were measured via the three methods. Reliability and repeatability were assessed via the intraclass correlation coefficient (ICC). The time required for each segmentation method was also recorded and compared. Results: Both the AI-automated (ICC = 0.945) and semiautomated (ICC = 0.992) methods demonstrated excellent reliability for total volume measurements compared with the manual reference. For the narrowest area, the automated method showed excellent agreement (ICC = 0.943), whereas the semiautomated method showed good agreement (ICC = 0.868). All methods demonstrated excellent intrareader repeatability (ICC > 0.95) and high test–retest reliability. The AI-automated method was significantly more time-efficient, requiring less than 30 s per analysis, compared with 161.4 s for the semiautomated method and 336.6 s for the manual method. Conclusions: AI-automated and semiautomated segmentation methods are reliable and accurate alternatives to manual upper airway analysis. The AI-based approach offers a substantial advantage in time efficiency, making it a valuable tool for clinical practice. Full article

(This article belongs to the Special Issue Medical Imaging Diagnosis of Oral and Maxillofacial Diseases)

► Show Figures

Figure 1

17 pages, 1520 KB

Open AccessEditor’s ChoiceArticle

Clinical Value of Core Needle Biopsy as a Second-Line Approach After Non-Conclusive Fine-Needle Aspiration in Thyroid Nodules: A Paired Analysis

by Vladan Markovic, Slobodanka Mitrovic, Tijana Maksic, Irfan Corovic, Marija Sekulic, Mladen Maksic and Vesna Grbovic

Diagnostics 2026, 16(7), 1104; https://doi.org/10.3390/diagnostics16071104 - 7 Apr 2026

Viewed by 519

Abstract

Background: Fine-needle aspiration biopsy (FNAB) is the standard initial diagnostic procedure for thyroid nodules; however, a considerable proportion of results are non-diagnostic or indeterminate, often requiring repeat procedures and delaying management. Core needle biopsy (CNB) has been proposed as a second-line option. This [...] Read more.

Background: Fine-needle aspiration biopsy (FNAB) is the standard initial diagnostic procedure for thyroid nodules; however, a considerable proportion of results are non-diagnostic or indeterminate, often requiring repeat procedures and delaying management. Core needle biopsy (CNB) has been proposed as a second-line option. This study evaluated the frequency of non-conclusive FNAB and CNB results and assessed the diagnostic contribution of CNB in nodules with initially non-conclusive FNAB findings. Methods: A retrospective–prospective study was conducted between 2019 and 2025 at a tertiary referral center, including 434 thyroid nodules. Ultrasound risk stratification followed ACR TI-RADS criteria. FNAB was performed in 430 nodules, and CNB in 85 nodules, including 82 evaluated by both methods. Biopsy results were classified according to the Bethesda system as conclusive or non-conclusive. Paired comparisons were analyzed using the McNemar test, and associations with ultrasound risk were assessed. Results: FNAB produced non-conclusive results in 56.5% of cases, compared with 23.5% for CNB. In paired analysis, 53.7% of nodules with non-conclusive FNAB were reclassified as conclusive after CNB (p < 0.001). CNB significantly distinguished benign from malignant lesions, unlike FNAB. Hypoechogenicity, irregular margins, and punctate echogenic foci were independent predictors of malignancy. Minor complications were more frequent after CNB, while major complications were rare in both groups. Conclusions: CNB improves diagnostic yield when used as a second-line procedure in nodules with non-conclusive FNAB findings. Selective use in higher-risk nodules may reduce repeat procedures and facilitate more structured clinical management. Full article

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

► Show Figures

Figure 1

18 pages, 973 KB

Open AccessReview

Artificial Intelligence in Ocular Surface Tumors: Current Advances, Challenges, and Future Directions

by Hamidreza Ghanbari, Nikoo Bayan, Shakiba Rahimi, Farhad Salari, Mohammadreza Toghyani DolatAbadi and Mohammad Soleimani

Diagnostics 2026, 16(7), 1103; https://doi.org/10.3390/diagnostics16071103 - 6 Apr 2026

Cited by 1 | Viewed by 764

Abstract

Ocular surface tumors (OSTs) are rare but potentially life-threatening neoplasms encompassing entities such as ocular surface squamous neoplasia (OSSN), conjunctival melanoma, and lymphoma. Accurate diagnosis often requires expert ophthalmologists and pathologists, compounded by the reliance on advanced imaging modalities, with excisional biopsy being [...] Read more.

Ocular surface tumors (OSTs) are rare but potentially life-threatening neoplasms encompassing entities such as ocular surface squamous neoplasia (OSSN), conjunctival melanoma, and lymphoma. Accurate diagnosis often requires expert ophthalmologists and pathologists, compounded by the reliance on advanced imaging modalities, with excisional biopsy being the gold standard. These limitations underscore the need for less invasive, accessible diagnostic approaches, where artificial intelligence (AI) holds significant promise. This review provides a comprehensive overview of AI advancements in OST management. It begins with definitions of AI and its key branches, followed by an examination of AI models applied to ophthalmic tumors using imaging data. Current developments in AI-related diagnostic tools for OSTs are discussed, highlighting their potential to enhance patient management, with classifications based on imaging modalities and specific OST types. Finally, the review addresses main challenges in AI implementation, including data limitations and ethical considerations, while outlining future directions to integrate AI into clinical ophthalmology practice. By bridging technological innovation with clinical needs, AI shows promise in OST diagnosis and management, ultimately improving outcomes in this challenging condition. Full article

(This article belongs to the Special Issue Clinically Integrated AI for Corneal and Ocular Surface Diseases)

► Show Figures

Graphical abstract

16 pages, 293 KB

Open AccessArticle

Performance of Blood-Based Indirect Scores Compared to Transient Elastography in Children with Chronic Liver Disease

by Alexandru-Ștefan Niculae, Alina Grama, Monica Lupșor-Platon, Alexandra Mititelu, Gabriel Bența, Sorina Adam and Tudor Lucian Pop

Diagnostics 2026, 16(7), 1102; https://doi.org/10.3390/diagnostics16071102 - 6 Apr 2026

Cited by 1 | Viewed by 513

Abstract

Background: Chronic liver disease (CLD) in children requires long-term monitoring. Liver biopsy and transient elastography (TE) are resource-intensive methods that require specialized equipment and trained personnel. Simple indirect fibrosis scores based on routine laboratory parameters offer a potentially cost-effective alternative but have [...] Read more.

Background: Chronic liver disease (CLD) in children requires long-term monitoring. Liver biopsy and transient elastography (TE) are resource-intensive methods that require specialized equipment and trained personnel. Simple indirect fibrosis scores based on routine laboratory parameters offer a potentially cost-effective alternative but have not been systematically evaluated in pediatric populations with diverse CLD etiologies. Objectives: This study aimed to assess the performance of several indirect fibrosis and cirrhosis scores in predicting significant (≥F2) and advanced (≥F3) fibrosis and cirrhosis (F4) in children with CLD using TE as a comparator. Methods: We retrospectively reviewed medical records of children with CLD evaluated at a tertiary center between January 2023 and June 2025. TE results and routine laboratory data were used to calculate fibrosis scores, including APRI, FIB-4, FibroIndex, FORNS, GPR, GUCI, King’s score, and Lok’s index. ROC analyses were performed to assess each score’s ability to discriminate significant fibrosis, advanced fibrosis and cirrhosis. Optimal cut-offs were established using the Youden index. Results: GPR showed the strongest concordance with TE-based fibrosis classification across both fibrosis thresholds, achieving an AUROC of 0.835 for significant fibrosis and a superior 0.917 for advanced fibrosis. FibroIndex and APRI also demonstrated good discriminatory power for advanced disease. Utilizing mathematically optimized cut-offs, GPR (0.45) and APRI (0.84) achieved good negative predictive values (100% and 95%) and sensitivities (100% and 85%) for advanced fibrosis, establishing them as potentially valuable screening tools. For cirrhosis detection (F4), Lok’s Index performed best (AUROC 0.854). Conclusions: In this diverse pediatric cohort, simple indirect scores—particularly GPR, APRI, and FibroIndex—demonstrated the highest concordance relative to TE findings, with negative predictive values up to 100% for GPR. This indicates that they can serve as reliable first-line screening tools when TE is unavailable. While their good negative predictive values allow for the confident exclusion of severe disease—potentially sparing many children from invasive testing—their low positive predictive values limit their role in definitive diagnosis. The systematic failure of adult-derived, age-dependent formulas in this cohort underscores the critical need for specialized pediatric biomarkers. Full article

(This article belongs to the Special Issue Pediatric Liver Disease: Emerging Diagnostic Biomarkers, Clinical Management, and Future Directions)

3 pages, 2282 KB

Open AccessInteresting Images

Testicular Plasmacytoma as the First Manifestation of Systemic Multiple Myeloma

by Patricia Rodriguez-Parras, Alberto Zambudio-Munuera, Miguel Herraez-Marcos, Francisco Gutierrez-Tejero and Miguel Angel Arrabal-Polo

Diagnostics 2026, 16(7), 1101; https://doi.org/10.3390/diagnostics16071101 - 6 Apr 2026

Viewed by 543

Abstract

Multiple myeloma is a hematological malignancy characterized by clonal proliferation of plasma cells, usually confined to the bone marrow. Extramedullary disease (EMD) occurs in 7–18% of patients during the disease course and is associated with poor prognosis. Among extramedullary sites, testicular involvement is [...] Read more.

Multiple myeloma is a hematological malignancy characterized by clonal proliferation of plasma cells, usually confined to the bone marrow. Extramedullary disease (EMD) occurs in 7–18% of patients during the disease course and is associated with poor prognosis. Among extramedullary sites, testicular involvement is extremely rare, with an incidence of less than 2%. We present a rare case of testicular plasmacytoma as the first manifestation of systemic multiple myeloma, highlighting its imaging features and clinical implications. Full article

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

► Show Figures

Figure 1

12 pages, 2145 KB

Open AccessArticle

Clinical and Radiological Outcomes Comparison of Degradable Starch Microspheres TACE with Idarubicin vs. Epirubicin Protocol in Patients with HCC

by Francesco Giurazza, Pietro Roccatagliata, Claudio Carrubba, Fabio Corvino, Raffaella Tortora, Marco Guarracino, Mariafiorella Brangi, Carla Migliaccio, Federica Falaschi, Maria Cammarota and Raffaella Niola

Diagnostics 2026, 16(7), 1100; https://doi.org/10.3390/diagnostics16071100 - 5 Apr 2026

Viewed by 579

Abstract

Background/Objectives: Transarterial chemoembolization (TACE) is included in international guidelines for the treatment of hepatocellular carcinoma (HCC), but it is still not a standardized intervention in terms of vector and chemotherapy. This study aims to report on clinical and radiological outcomes of degradable [...] Read more.

Background/Objectives: Transarterial chemoembolization (TACE) is included in international guidelines for the treatment of hepatocellular carcinoma (HCC), but it is still not a standardized intervention in terms of vector and chemotherapy. This study aims to report on clinical and radiological outcomes of degradable starch microspheres TACE (DSM-TACE) with idarubicin and compare with DSM-TACE with an epirubicin protocol after a single session. Methods: This is a single-center retrospective study analyzing cirrhotic patients affected by HCC in early or intermediate stages. Primary objectives were to assess the safety and efficacy of a single DSM-TACE with 10 mg idarubicin in terms of adverse event (AE) occurrences evaluated via the CTCAE 5.0 system and mRECIST criteria with computed tomography (CT) at 3 months. The secondary purpose was to compare the procedural outcomes with those from patients treated with DSM-TACE with 50 mg epirubicin. Results: Thirty-seven patients were included, 19 treated with idarubicin (IDA group) and 18 with epirubicin (EPI group); demographic data and lesion characteristics were comparable. No major AE (grade ≥ 3) occurred overall. In the IDA group, the minor AE incidence was 52.7%: one patient presented with mild ascites, eight developed hyperbilirubinemia and one leucopenia. At the 3-month CT follow-up, mRECIST criteria reported an overall response rate (ORR) of 63.2% and a disease control rate (DCR) of 84.2%. No statistically significant differences were appreciable comparing both AE occurrence and mRECIST findings with the EPI group (50% minor AE, 77.8% ORR, 88.9% DCR). Conclusions: In this sample of cirrhotic patients with HCC, DSM-TACE with 10 mg idarubicin was safe and effective comparable to DSM-TACE with 50 mg epirubicin. Full article

(This article belongs to the Special Issue Advancements in Interventional Radiology Techniques in Vascular and Extravascular Diseases)

► Show Figures

Figure 1

11 pages, 2083 KB

Open AccessArticle

Peritumoral Fat Radiomics for Dual Prediction of TNM Stage and Histological Grade in Clear Cell Renal Cell Carcinoma: Discovery of Target-Specific Optimal Imaging Distances

by Abdulrahman Al Mopti, Abdulsalam Alqahtani, Ali H. D. Alshehri and Ghulam Nabi

Diagnostics 2026, 16(7), 1099; https://doi.org/10.3390/diagnostics16071099 - 5 Apr 2026

Viewed by 644

Abstract

Background/Objectives: Perirenal fat (PRF) constitutes a critical yet understudied component of the tumor microenvironment in clear cell renal cell carcinoma (ccRCC). While radiomics enables non-invasive tissue characterization, whether PRF-derived features can simultaneously predict both TNM stage and histological grade, and whether optimal peritumoral [...] Read more.

Background/Objectives: Perirenal fat (PRF) constitutes a critical yet understudied component of the tumor microenvironment in clear cell renal cell carcinoma (ccRCC). While radiomics enables non-invasive tissue characterization, whether PRF-derived features can simultaneously predict both TNM stage and histological grade, and whether optimal peritumoral distances differ between these distinct biological targets, remains unexplored in the literature. Methods: This multi-cohort retrospective study included 474 histopathologically confirmed ccRCC patients from three independent datasets (2007–2023). Automated nnU-Net segmentation delineated tumors and kidneys. Concentric PRF regions were systematically generated at 1–10 mm radial distances, yielding 18 distinct regions of interest. From each ROI, 1409 radiomic features were extracted using PyRadiomics. Sequential feature selection employed correlation filtering, SHAP-guided elimination, and LASSO regularization. Multiple machine learning classifiers underwent hyperparameter optimization with rigorous cross-cohort validation. Results: Systematic ROI screening revealed target-specific optimal distances: 4 mm PRF for TNM staging versus 10 mm PRF for histological grading. For staging, the integrated model (tumor + PRF radiomics + clinical variables) achieved AUC 0.829 (95% CI 0.781–0.877), sensitivity 80.2%, and specificity 67.8%. For grading, the combined model achieved AUC 0.780 (95% CI 0.598–0.962), sensitivity 79.7%, and specificity 63.3%, significantly outperforming all single-compartment models (DeLong p < 0.001). Conclusions: This study establishes that PRF radiomics enables accurate simultaneous non-invasive prediction of both TNM stage and histological grade in ccRCC. The novel discovery that optimal peritumoral distances differ substantially by prediction target (4 mm versus 10 mm) suggests distinct biological underpinnings for stage- and grade-related microenvironmental alterations, with important methodological implications for radiomic model development in oncology. Full article

(This article belongs to the Special Issue AI-Enhanced Medical Imaging: A New Era in Oncology)

► Show Figures

Figure 1

16 pages, 2861 KB

Open AccessArticle

Three-Dimensional Volumetric Evaluation of the Sella Turcica and Sphenoid Sinus in Individuals with Unilateral Palatally Impacted Maxillary Canines Using CBCT

by Manolya İlhanlı, Şerife Tuğçe Hasoğlan, Seçil Aksoy and Kaan Orhan

Diagnostics 2026, 16(7), 1098; https://doi.org/10.3390/diagnostics16071098 - 5 Apr 2026

Viewed by 598

Abstract

Background/Objectives: The sella turcica and sphenoid sinus are anatomically adjacent structures within the cranial base and may reflect variations related to craniofacial development. However, evidence regarding their three-dimensional characteristics in individuals with impacted canines remains limited. This study aimed to evaluate the [...] Read more.

Background/Objectives: The sella turcica and sphenoid sinus are anatomically adjacent structures within the cranial base and may reflect variations related to craniofacial development. However, evidence regarding their three-dimensional characteristics in individuals with impacted canines remains limited. This study aimed to evaluate the morphological, linear, and volumetric characteristics of the sella turcica and sphenoid sinus in individuals with unilateral palatally impacted maxillary canines using cone-beam computed tomography (CBCT). Methods: This study included CBCT scans of individuals with unilateral palatally impacted maxillary canines and a control group. Linear measurements and morphology of the sella turcica were assessed. Sella turcica volume was calculated using both a geometric formula and voxel-based three-dimensional segmentation. Sphenoid sinus pneumatization patterns and volumes were also evaluated. Agreement between volumetric measurement methods was assessed using Bland–Altman analysis, and correlations between sella turcica and sphenoid sinus volumes were also analyzed. Results: Most morphological and volumetric parameters of the sella turcica and sphenoid sinus were comparable between groups. Among the linear measurements, only sella width was significantly greater in the control group, whereas other dimensions showed no significant differences. The distribution of sella turcica morphology and sphenoid sinus pneumatization patterns was similar in both groups. No significant differences were observed in sella turcica or sphenoid sinus volumes. Bland–Altman analysis demonstrated good agreement between geometric and voxel-based volumetric measurements. In addition, no significant correlation was identified between sella turcica and sphenoid sinus volumes. Conclusions: Unilateral palatally impacted maxillary canines were not associated with substantial morphological or volumetric alterations of the sella turcica or sphenoid sinus. These findings suggest that variations in these cranial base structures have limited value as indicators of unilateral palatal canine impaction. Full article

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

► Show Figures

Figure 1

18 pages, 6729 KB

Open AccessArticle

Dynamic Ultrasound of the Infrapatellar Fat Pad for Detecting Anterior Cruciate Ligament Deficiency: A Biomechanical Cadaveric Proof-of-Concept Study

by Yoshiyuki Tokuda, Tsuneo Nakamura, Yoshitake Shiraishi, Kiyomi Hori, Hiroaki Okuda and Noriyuki Ozaki

Diagnostics 2026, 16(7), 1097; https://doi.org/10.3390/diagnostics16071097 - 5 Apr 2026

Viewed by 848

Abstract

Background/Objectives: Diagnosing anterior cruciate ligament (ACL) insufficiency, particularly partial tears, remains challenging with standard static imaging. This study introduces a novel conceptual approach: assessing the dynamic kinematics of the infrapatellar fat pad (IPFP) as an indirect marker of ACL deficiency. Methods: [...] Read more.

Background/Objectives: Diagnosing anterior cruciate ligament (ACL) insufficiency, particularly partial tears, remains challenging with standard static imaging. This study introduces a novel conceptual approach: assessing the dynamic kinematics of the infrapatellar fat pad (IPFP) as an indirect marker of ACL deficiency. Methods: In this biomechanical proof-of-concept study, dynamic ultrasound tracked IPFP kinematics in eight cadaveric knees evaluated in intact (Control), Sham, and Torn ACL states during passive flexion. The primary endpoints were (i) the absolute anteroposterior position at 90° (y₂ − y₁) and (ii) the posterior displacement during the 60–90° flexion arc (ΔY 60–90°). Results: ACL deficiency significantly altered deep-flexion IPFP kinematics. For ΔY 60–90°, the Torn ACL group demonstrated a substantial loss of posterior excursion compared to the Control group (Mean ± SD: −0.25 ± 1.03 vs. 2.88 ± 1.29 mm; Welch’s p < 0.001; Hedges’ g = 2.54, 95% CI: 1.18 to 3.89) and the Sham group (3.46 ± 1.63 mm; p < 0.001; g = −2.57, 95% CI: −3.90 to −1.25). Consequently, for y₂ − y₁ at 90°, the Torn ACL group remained abnormally anterior versus Control (p = 0.003; g = −1.97) and Sham (p < 0.001; g = −1.82). Conclusions: ACL deficiency induces a distinct reduction in posterior IPFP displacement. While these massive effect sizes establish a strong biomechanical rationale, this study serves as a foundational proof-of-concept. Large-scale in vivo clinical trials are strictly required to validate its diagnostic utility before clinical implementation. Full article

(This article belongs to the Special Issue Musculoskeletal Imaging 2025, 2nd Edition)

► Show Figures

Figure 1

18 pages, 768 KB

Open AccessArticle

Generating Findings for Jaw Cysts in Dental Panoramic Radiographs Using a GPT-Based VLM: A Preliminary Study on Building a Two-Stage Self-Correction Loop with a Structured Output (SLSO) Framework

by Nanaka Hosokawa, Ryo Takahashi, Tomoya Kitano, Yukihiro Iida, Chisako Muramatsu, Tatsuro Hayashi, Yuta Seino, Xiangrong Zhou, Takeshi Hara, Akitoshi Katsumata and Hiroshi Fujita

Diagnostics 2026, 16(7), 1096; https://doi.org/10.3390/diagnostics16071096 - 5 Apr 2026

Viewed by 880

Abstract

Background/Objectives: Vision-language models (VLMs) such as GPT (Generative Pre-Trained Transformer) have shown potential for medical image interpretation; however, challenges remain in generating reliable radiological findings in clinical practice, as exemplified by dental pathologies. This study proposes a Self-correction Loop with Structured Output (SLSO) [...] Read more.

Background/Objectives: Vision-language models (VLMs) such as GPT (Generative Pre-Trained Transformer) have shown potential for medical image interpretation; however, challenges remain in generating reliable radiological findings in clinical practice, as exemplified by dental pathologies. This study proposes a Self-correction Loop with Structured Output (SLSO) framework as an integrated processing methodology to enhance the accuracy and reliability of AI-generated findings for jaw cysts in dental panoramic radiographs. Methods: Dental panoramic radiographs with jaw cysts were used to implement a 10-step integrated processing framework incorporating image analysis, structured data generation, tooth number extraction, consistency checking, and iterative regeneration. The framework functioned as an external validation mechanism for GPT outputs. Performance was compared against the conventional Chain-of-Thought (CoT) method across seven evaluation items: transparency, internal structure, borders, root resorption, tooth displacement, relationships with other structures, and tooth number. Results: The SLSO framework improved output accuracy for multiple items compared to the CoT method, with the most notable improvements observed in tooth number identification, tooth displacement detection, and root resorption assessment. In successful cases, consistently structured outputs were achieved after up to five regenerations. The framework enforced explicit negative finding descriptions and suppressed hallucinations, although accurate identification of extensive lesions spanning multiple teeth remained limited. Conclusions: This investigation established the feasibility of the proposed integrated processing methodology and provided a foundation for future validation studies with larger, more diverse datasets. Full article

(This article belongs to the Special Issue Application of Artificial Intelligence to Oral Diseases)

► Show Figures

Graphical abstract

15 pages, 1199 KB

Open AccessArticle

Diagnostic Performance of Parotid Shear-Wave Elastography for Predicting Histopathological Positivity in Patients with Suspected Primary Sjögren’s Syndrome

by Ozlem Unal, Betul Akdal Dolek, Ahmet Kor, Eda Sener Alcın and Sukran Erten

Diagnostics 2026, 16(7), 1095; https://doi.org/10.3390/diagnostics16071095 - 5 Apr 2026

Viewed by 458

Abstract

Background: Primary Sjögren’s syndrome (pSS) is a chronic autoimmune epithelitis characterized by lymphocytic infiltration of the exocrine glands. Although labial salivary gland biopsy remains the reference standard for diagnosis, it is invasive and may not always be feasible in routine practice. This study [...] Read more.

Background: Primary Sjögren’s syndrome (pSS) is a chronic autoimmune epithelitis characterized by lymphocytic infiltration of the exocrine glands. Although labial salivary gland biopsy remains the reference standard for diagnosis, it is invasive and may not always be feasible in routine practice. This study aimed to evaluate the diagnostic performance of parotid gland shear-wave elastography (SWE) and to investigate its relationship with histopathological findings in patients with suspected pSS. Methods: This prospective study included 93 participants (53 patients with pSS and 40 controls). Shear-wave elastography measurements of the parotid glands were obtained, and their association with histopathological findings was analyzed. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. Multivariable logistic regression was performed to evaluate independent predictors of histopathological positivity. Results: Mean shear-wave elastography velocity values (m/s) were significantly higher in the pSS group than in controls (p < 0.001), and this difference remained significant after adjustment for age (adjusted β = 2.141, p < 0.001). ROC analysis demonstrated moderate discriminative performance for predicting histopathological positivity (AUC = 0.76, 95% CI: 0.61–0.89). The optimal cut-off value of 2.17 m/s yielded a sensitivity of 69.0% and a specificity of 94.1%. A moderate positive correlation was observed between right parotid elastography values and histopathological grade (r = 0.483, p < 0.001). In multivariable analysis, elastography mean and anti-SSA positivity showed positive but non-significant associations with histopathological positivity. The model demonstrated good calibration (Hosmer–Lemeshow p = 0.866) and high apparent discrimination (AUC = 0.947), with reduced performance after internal validation. Conclusions: Parotid shear-wave elastography is a non-invasive imaging method with moderate diagnostic performance in pSS. Elastography measurements correlate with histopathological involvement and remain significantly elevated after age adjustment. SWE may serve as a complementary tool for pre-biopsy risk stratification, particularly when biopsy is contraindicated or declined. Further validation in larger, independent cohorts is required. Full article

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

► Show Figures

Figure 1

11 pages, 14031 KB

Open AccessCase Report

Extracranial Metastases in Glioblastoma, IDH-Wildtype: A Case Series

by Valèria Richart, Marta García de Herreros, Juan Andrés Mora, Camilo Pineda, Iban Aldecoa, Estela Pineda, Izaskun Valduvieco, José Juan González, Laura Oleaga and Sofía González-Ortiz

Diagnostics 2026, 16(7), 1094; https://doi.org/10.3390/diagnostics16071094 - 5 Apr 2026

Viewed by 800

Abstract

Background: Extracranial metastasis (EM) from glioblastoma (GB), IDH-wildtype (WHO CNS 2021 grade 4) is rare and often under-recognized, yet it has immediate implications for staging and management. We report a case series integrating advanced neuroimaging, whole-body imaging, and pathology/biomarkers to characterize imaging–pathology [...] Read more.

Background: Extracranial metastasis (EM) from glioblastoma (GB), IDH-wildtype (WHO CNS 2021 grade 4) is rare and often under-recognized, yet it has immediate implications for staging and management. We report a case series integrating advanced neuroimaging, whole-body imaging, and pathology/biomarkers to characterize imaging–pathology correlates of EM and highlight practical clinical triggers that should prompt systemic evaluation. Case presentation: We report three patients with adult-type, IDH-wildtype GB who developed EM confirmed by cytology/histology and/or concordant multimodality imaging. Brain MRI (1.5T/3T) demonstrated aggressive primary tumors with qualitative elevation of DSC-perfusion and frequent tumor–surface contact (dural, ependymal/leptomeningeal contact). Intratumoral susceptibility signal reached grade 3 where assessed. All patients underwent surgical resection followed by temozolomide-based chemoradiation; two received fotemustine and bevacizumab, and one underwent re-irradiation. EM presented with clinical triggers including severe axial/back pain, palpable cervical masses, and/or cytopenias. Initial EM sites were bone marrow/vertebrae (n = 1) and cervical lymph nodes (n = 2); staging revealed additional osseous disease in both nodal cases and a small pulmonary nodule in one. Nodal and osseous lesions were FDG-avid on 18F-FDG PET/CT. OLIG2-positive cytology confirmed cervical nodal metastases, and bone marrow aspiration with GFAP/OLIG2 positivity confirmed medullary infiltration. All tumors shared a molecular profile of TERT-promoter mutation, ATRX wild-type, TP53 mutation, and MGMT-promoter methylation. Despite attempts at second- and third-line therapies, disease progression was rapid, and all patients succumbed within 8–16 months of diagnosis. Discussion: This series underscores that EM can occur despite MGMT-promoter methylation and supports the concept of heterogeneous metastatic phenotypes in GB. Our cases reinforce that new axial/back pain or hematologic abnormalities may signal osseous or marrow involvement, and necrotic cervical lymphadenopathy in GB patients warrants dedicated imaging and tissue confirmation with glial markers. Integrating brain MRI features (high perfusion, surface contact, susceptibility burden) with FDG-PET/CT and targeted cytology/pathology can expedite diagnosis and inform multidisciplinary care. Conclusions: EM can arise despite MGMT-promoter methylation in IDH-wildtype GBM. Imaging red flags (high perfusion, surface contact, necrotic/FDG-avid cervical nodes) and clinical cues (axial pain, cytopenias, neck masses) should prompt early systemic staging (CT/PET-CT) and targeted tissue confirmation to advance management. Full article

(This article belongs to the Special Issue Clinical Advances and Applications in Neuroradiology: 2nd Edition)

► Show Figures

Figure 1

15 pages, 1148 KB

Open AccessArticle

Collaborative Robotic Systems for Pre-Analytical Processing of Biological Specimens in a Medical Laboratory

by Andrey G. Komarov, Pavel O. Bochkov, Arkadiy S. Goldberg, Vasiliy G. Akimkin and Pavel P. Tregub

Diagnostics 2026, 16(7), 1093; https://doi.org/10.3390/diagnostics16071093 - 4 Apr 2026

Cited by 1 | Viewed by 768

Abstract

Background/Objectives: The increasing volume of laboratory testing and the tightening of quality standards have rendered automation tasks in medical laboratories highly relevant. Conventional total laboratory automation (TLA) systems demonstrate high throughput; however, their economic and organizational efficiency is often constrained by their [...] Read more.

Background/Objectives: The increasing volume of laboratory testing and the tightening of quality standards have rendered automation tasks in medical laboratories highly relevant. Conventional total laboratory automation (TLA) systems demonstrate high throughput; however, their economic and organizational efficiency is often constrained by their complex integration and substantial implementation costs. In this context, collaborative robots (cobots) are attracting increasing attention due to their ability to perform pre-analytical and logistical tasks in close association with laboratory personnel. The objective of the present study was the systematic integration of commercially available cobots into the pre-analytical workflow of a large centralized laboratory. Methods: The implemented system incorporated a set of specialized modules, including decapping, barcode orientation and verification, analyzer loading, aliquoting, and specimen sorting, with bidirectional integration into the Laboratory Information System (LIS). The architectural design, control algorithms, and primary effects on labor input and operational turnaround time were evaluated. Results: The results demonstrated that the implementation of cobots into laboratory processes led to an 87% reduction in labor input, a 3.4% improvement in liquid aliquoting accuracy, and an overall improvement in nominal throughput, while requiring minimal personnel training. However, human operators performed the aliquoting procedure significantly faster than cobots, with an average speed advantage of 42.5%. Conclusions: The use of collaborative robotic systems in centralized medical laboratories appears promising due to their operational efficiency and flexibility compared to conventional automation platforms and manual workflows. The effect of the use of cobots on the quality/accuracy of the tests needs to be evaluated, and perhaps a larger study of multiple laboratories needs to be conducted to confirm the results are generalizable. Full article

(This article belongs to the Special Issue Collaborative Robotics and Total Laboratory Automation in Clinical Diagnostics)

► Show Figures

Graphical abstract

38 pages, 1001 KB

Open AccessReview

Patient and Healthcare Provider Barriers in the LDCT Lung Cancer Screening Continuum

by Rodica Anghel, Antonia-Ruxandra Folea, Vlad-Luca Moga, Cristian Pavel, Diana Troncotă, Corneliu-Octavian Dumitru, Andreea-Iren Șerban and Liviu Bîlteanu

Diagnostics 2026, 16(7), 1092; https://doi.org/10.3390/diagnostics16071092 - 4 Apr 2026

Cited by 1 | Viewed by 716

Abstract

Background/Objectives: Despite demonstrated mortality benefits, annual low-dose computed tomography (LDCT) screening faces challenges in real-world adoption due to low uptake and poor longitudinal adherence. This review evaluates patient- and provider-level factors that influence screening participation and highlights strategies to strengthen equitable engagement [...] Read more.

Background/Objectives: Despite demonstrated mortality benefits, annual low-dose computed tomography (LDCT) screening faces challenges in real-world adoption due to low uptake and poor longitudinal adherence. This review evaluates patient- and provider-level factors that influence screening participation and highlights strategies to strengthen equitable engagement throughout the screening pathway. Methods: A structured literature search of PubMed and Web of Science was performed to identify studies published between 2013 and November 2025 (search conducted on 25 November 2025). Eligible publications included qualitative and quantitative studies, study protocols, and reviews examining LDCT screening uptake, adherence, and follow-up practices. Extracted evidence was synthesized, with particular attention being paid to patient- and provider-level determinants. Results: The evidence demonstrates that both patient- and provider-level factors substantially influence screening participation and continuity. At the patient level, limited awareness of screening, misconceptions regarding asymptomatic disease, and psychosocial factors such as fear, fatalism, stigma, and medical mistrust were consistently associated with reduced uptake and adherence. At the provider level, gaps in guideline familiarity, time constraints, and challenges in delivering high-quality shared decision-making limited referrals and follow-up. Conclusions: Improving real-world effectiveness of LDCT lung cancer screening requires reframing screening as a longitudinal program of care. Strategies that support patient navigation, enhance provider capacity for sustained engagement, and integrate tobacco dependence treatment into screening pathways are central to improving adherence and reducing disparities. Full article

(This article belongs to the Special Issue Lung Cancer: Screening, Diagnosis and Survival Outcomes)

► Show Figures

Figure 1

14 pages, 1791 KB

Open AccessArticle

Adding Estimates of Central Venous Pressure Boosts the Performance of Non-Invasive Assessment of the Portosystemic Gradient Prior to TIPS Implantation

by Fabian Stoehr, Maximilian Moos, Lukas Müller, Tilla Loew, Annika Merzweiler, Christian Labenz, Tobias Jorg, Simon Johannes Gairing, Peter R. Galle, Roman Kloeckner, Jens Mittler, Michael B. Pitton, Tobias Bäuerle and Felix Hahn

Diagnostics 2026, 16(7), 1091; https://doi.org/10.3390/diagnostics16071091 - 4 Apr 2026

Viewed by 437

Abstract

Background: Non-invasive scoring systems for predicting the hepatic venous pressure gradient (HVPG) and, thus, clinically significant portal hypertension (CSPH) have been proposed; the aim of this study was to evaluate the accuracy of these scores in a cohort of patients undergoing transjugular [...] Read more.

Background: Non-invasive scoring systems for predicting the hepatic venous pressure gradient (HVPG) and, thus, clinically significant portal hypertension (CSPH) have been proposed; the aim of this study was to evaluate the accuracy of these scores in a cohort of patients undergoing transjugular intrahepatic portosystemic shunt (TIPS) placement and to further analyze patients without a markedly elevated portosystemic gradient (PSG) at the time of the procedure. Methods: We retrospectively analyzed 314 patients who underwent TIPS implantation at our tertiary care center between 2010 and 2022. The diagnostic performance of CT-based scoring systems by Iranmanesh (Score 1) and Kihira (Score 2), as well as laboratory-based scores including MELD (Score 3), FIB-4 (Score 4), and APRI (Score 5), was assessed for detecting a markedly elevated PSG (PSG > 10 mmHg). Additionally, we evaluated whether incorporating the inferior vena cava (IVC) diameter as a surrogate marker of central venous pressure (CVP) improves the accuracy of CT-based scores. Results: Both Scores 1 and 2 showed high sensitivity (89–87%) but low specificity (33–27%). ROC analysis revealed AUC values between 0.65 and 0.62. Laboratory-based scores (Score 3–5) performed poorly with AUCs of 0.57–0.54. Adding IVC diameter as an estimator for CVP to Scores 1 and 2 significantly increased the AUC to 0.74 and 0.76. In Lasso regression, IVC diameter was selected as a significant variable for PSG estimation. Conclusions: CT-based scoring systems showed promise in assessing markedly elevated PSG, but their specificity was low. Including the IVC diameter improved accuracy in detecting elevated PSG in TIPS patients. Future scoring systems should incorporate CVP estimators like the IVC diameter. Full article

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

► Show Figures

Figure 1

25 pages, 4233 KB

Open AccessArticle

Usefulness of Laboratory-Based Machine Learning for Detection and Severity Classification of Acute Appendicitis in a Resource-Limited Healthcare Setting

by Margarita L. Martinez-Fierro, Jose G. Gonzalez-Rodarte, Sodel Vazquez-Reyes, Manuel Gonzalez-Plascencia, Idalia Garza-Veloz, Perla Velasco-Elizondo, Sidere M. Zorrilla-Alfaro, Jaime Y. Burciaga-Paez, Gonzalo Ibarra-Bañuelos, Luis A. Flores-Chaires and Alejandro Mauricio-Gonzalez

Diagnostics 2026, 16(7), 1090; https://doi.org/10.3390/diagnostics16071090 - 4 Apr 2026

Viewed by 748

Abstract

Background: Acute appendicitis is the most common abdominal surgical emergency, with diagnostic uncertainty greatest in resource-limited settings. Objectives: To develop and internally validate an interpretable, laboratory-driven machine learning approach to assist clinical decision-making in suspected appendicitis, including diagnosis, perforation detection, and [...] Read more.

Background: Acute appendicitis is the most common abdominal surgical emergency, with diagnostic uncertainty greatest in resource-limited settings. Objectives: To develop and internally validate an interpretable, laboratory-driven machine learning approach to assist clinical decision-making in suspected appendicitis, including diagnosis, perforation detection, and surgical severity stratification. Methods: A retrospective cohort of 246 patients with histopathologically confirmed appendicitis and 45 controls with similar abdominal pain was analyzed at a secondary-level hospital in Mexico. After cleaning and imputation, 41 laboratory variables were used to train three models: Random Forest for appendicitis detection and perforation identification, and Support Vector Machine for surgical severity stratification. Class imbalance was addressed with synthetic oversampling, and feature selection prioritized clinical interpretability. Results: Appendicitis detection achieved excellent discrimination (AUC = 0.94), correctly identifying 90% of cases, with 100% specificity. The perforation model reached 100% sensitivity (AUC = 0.875), prioritizing safe detection of high-risk cases, while severity stratification showed moderate performance (AUC = 0.721), correctly identifying 81% of complicated cases without imaging. Conclusions: Laboratory-based ML models accurately detected acute appendicitis and identified all perforated cases using routine data alone, while surgical severity stratification showed moderate discrimination in the absence of imaging. These findings demonstrate the feasibility of laboratory-driven decision support for early risk assessment in resource-limited emergency settings and support further external validation. Full article

(This article belongs to the Special Issue Innovative Advances in Diagnosis Through Artificial Intelligence)

► Show Figures

Figure 1

17 pages, 1271 KB

Open AccessReview

Biomarkers of Treatment Response in Paediatric Medulloblastoma

by Mirgul Bayanova, Timur Saliev, Askhat Zhakupov, Aizhan Abdikadirova, Malika Sapargaliyeva, Bakytkali Ibraimov and Aidos Bolatov

Diagnostics 2026, 16(7), 1089; https://doi.org/10.3390/diagnostics16071089 - 3 Apr 2026

Cited by 1 | Viewed by 748

Abstract

Paediatric medulloblastoma is the most common malignant brain tumour in children, exhibiting substantial biological heterogeneity that drives variable treatment outcomes. Despite advances in multimodal therapy, treatment-related morbidity remains a critical concern, underscoring the need for biomarkers to guide precision therapy. This review synthesises [...] Read more.

Paediatric medulloblastoma is the most common malignant brain tumour in children, exhibiting substantial biological heterogeneity that drives variable treatment outcomes. Despite advances in multimodal therapy, treatment-related morbidity remains a critical concern, underscoring the need for biomarkers to guide precision therapy. This review synthesises current knowledge on biomarkers of treatment response, encompassing molecular, epigenetic, transcriptomic, protein, and imaging-based markers. WNT-activated tumours show excellent prognosis and are candidates for therapy de-escalation; SHH-driven tumours demonstrate age-dependent outcomes influenced by TP53 status; Group 3 tumours carry the poorest prognosis; and Group 4 tumours display highly variable outcomes. DNA methylation profiles, transcriptional programs, and non-coding RNAs provide additional predictive insights. Protein biomarkers and advanced imaging, including liquid biopsy and radiomics, offer minimally invasive approaches for real-time monitoring of treatment efficacy. The review also addresses challenges such as intra-tumour heterogeneity, limited tissue availability, technical variability, and ethical considerations in paediatric oncology. Finally, we explore future directions, highlighting integrative, longitudinal, and ethically grounded biomarker strategies that have the potential to optimise therapy, minimise long-term toxicity, and improve both survival and quality of life for children with medulloblastoma. Full article

(This article belongs to the Special Issue Advances in Cancer Pathology and Diagnosis, Second Edition)

► Show Figures

Figure 1

15 pages, 283 KB

Open AccessArticle

Wrist Flexor Spasticity and Hemiplegic–Contralateral Median Nerve Latency Asymmetry After Stroke: A Bilateral Nerve Conduction and Ultrasound Study

by Ki-Hyeok Ku, Seongmin Choi, Kyung Chul Noh and Eo Jin Park

Diagnostics 2026, 16(7), 1088; https://doi.org/10.3390/diagnostics16071088 - 3 Apr 2026

Viewed by 527

Abstract

Background/Objectives: The paretic wrist after stroke may exhibit median nerve conduction abnormalities, but factors underlying hemiplegic–contralateral asymmetry remain uncertain. We compared electrodiagnostic and ultrasonographic wrist measures between sides and assessed predictors of side-to-side differences in distal motor latency (ΔDML) and distal sensory latency [...] Read more.

Background/Objectives: The paretic wrist after stroke may exhibit median nerve conduction abnormalities, but factors underlying hemiplegic–contralateral asymmetry remain uncertain. We compared electrodiagnostic and ultrasonographic wrist measures between sides and assessed predictors of side-to-side differences in distal motor latency (ΔDML) and distal sensory latency (ΔDSL). Methods: We retrospectively analyzed 85 patients with stroke. Distal motor latency (DML), distal sensory latency (DSL), wrist-to-forearm ratio (WFR), and median nerve inlet cross-sectional area (CSA) were measured bilaterally. Paired t-tests evaluated hemiplegic–contralateral differences, and Wilcoxon signed-rank tests were performed as sensitivity analyses. Multivariable linear regression with robust (HC3) standard errors modeled ΔDML as the primary outcome and ΔDSL as the secondary outcome, with wrist flexor spasticity (Modified Ashworth Scale, MAS) specified a priori as the primary explanatory variable; extended models additionally included ΔWFR. Sensitivity analyses re-specified MAS as an ordered category, and complementary linear mixed-effects models using raw bilateral latency values were fitted to assess the robustness of Δ-based modeling. Results: The hemiplegic side showed higher DML (5.51 ± 0.79 vs. 4.81 ± 0.42 ms; mean difference 0.694; p < 0.001), DSL (4.51 ± 0.88 vs. 3.66 ± 0.45 ms; mean difference 0.852; p < 0.001), WFR (1.21 ± 0.30 vs. 1.07 ± 0.16; p = 0.008), and CSA (11.16 ± 3.67 vs. 9.69 ± 2.04 mm²; p = 0.032). MAS was associated with ΔDML (β = 0.336; p < 0.001) and ΔDSL (β = 0.238; p = 0.015). ΔWFR remained significant for ΔDML (β = 1.314; p < 0.001) and ΔDSL (β = 1.371; p = 0.001), improving adjusted R² from 0.251 to 0.370 for ΔDML and from 0.142 to 0.253 for ΔDSL. Findings remained directionally consistent when MAS was modeled as an ordered category. Complementary mixed-effects models using raw bilateral latency values showed significant hemiplegic-side-by-MAS interactions for both DML (β = 0.425; 95% CI 0.275 to 0.575; p < 0.001) and DSL (β = 0.366; 95% CI 0.195 to 0.537; p < 0.001). Conclusions: In chronic stroke hemiplegia, median nerve latencies and wrist morphology may differ between sides. Wrist flexor spasticity and side-to-side increases in WFR may be independently associated with greater latency asymmetry. These interlimb latency differences should be interpreted as physiological markers of side-to-side median nerve involvement at the wrist rather than as stand-alone diagnostic criteria for carpal tunnel syndrome. Full article

(This article belongs to the Special Issue Risk Factors, Incidence, and Outcome of Stroke)

15 pages, 2839 KB

Open AccessArticle

Comprehensive Genomic Profiling for Precision Oncology: Analytical Validation and Clinical Utility in Solid Tumors

by Ashis K. Mondal, Ashutosh Vashisht, Vishakha Vashisht, Nikhil S. Sahajpal, Nivin Omar, Sudha Ananth, Pankaj Kumar Ahluwalia, Jaspreet Farmaha, Jana Woodall and Ravindra Kolhe

Diagnostics 2026, 16(7), 1087; https://doi.org/10.3390/diagnostics16071087 - 3 Apr 2026

Viewed by 1562

Abstract

Background: Comprehensive genomic profiling (CGP) is increasingly used in precision oncology to identify actionable genomic alterations and guide targeted therapies in solid tumors. However, the clinical implementation of CGP assays requires rigorous analytical validation to ensure accurate and reproducible detection of diverse [...] Read more.

Background: Comprehensive genomic profiling (CGP) is increasingly used in precision oncology to identify actionable genomic alterations and guide targeted therapies in solid tumors. However, the clinical implementation of CGP assays requires rigorous analytical validation to ensure accurate and reproducible detection of diverse genomic alterations across heterogeneous tumor samples. Despite rapid advancements in next-generation sequencing technologies, there remains a need for validated CGP platforms that demonstrate reliable performance and readiness for routine clinical use. Methods: This study evaluated the analytical and clinical performance of a CGP assay capable of detecting multiple genomic alteration types, including single nucleotide variants (SNVs), insertions/deletions (Indels), copy number variations (CNVs), gene fusions, and tumor mutational burden (TMB). Validation was conducted using patient-derived 117 FFPE tumor samples, external proficiency testing materials, and reference standards. Assay performance was assessed through comparison with orthogonal methods and through evaluation of reproducibility, limit of detection, and TMB concordance. Results: The assay demonstrated excellent analytical performance, achieving 100% sensitivity, specificity, and accuracy for variant detection across evaluated samples. Strong concordance was observed for TMB estimation (R² = 0.9925), with consistent classification of TMB-high cases. The assay showed robust inter- and intra-run reproducibility and reliable detection of low-frequency variants. Limit-of-detection (LOD) analysis confirmed accurate SNV detection at approximately 1% variant allele frequency and reliable RNA fusion detection at low input levels. Conclusions: The validated CGP assay provides accurate, reproducible, and comprehensive detection of clinically relevant genomic alterations in solid tumors. These results support its suitability for routine clinical deployment, enabling reliable genomic profiling to inform precision oncology treatment decisions. Full article

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

► Show Figures

Figure 1

12 pages, 869 KB

Open AccessArticle

Fraction Conversion Models Based on Ultrasound Attenuation Coefficient for Assessing Liver Steatosis

by Yin Zhang, Ting Jiang, Chuli Xu, Jiajun He, Hongjun Zhang, Tufeng Chen and Jie Zeng

Diagnostics 2026, 16(7), 1086; https://doi.org/10.3390/diagnostics16071086 - 3 Apr 2026

Viewed by 546

Abstract

Objectives: We aimed to develop models capable of converting the attenuation coefficient (AC) into a percentage-like index in patients with suspected metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: In this retrospective, cross-sectional study, we consecutively enrolled participants with suspected MASLD from [...] Read more.

Objectives: We aimed to develop models capable of converting the attenuation coefficient (AC) into a percentage-like index in patients with suspected metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: In this retrospective, cross-sectional study, we consecutively enrolled participants with suspected MASLD from the Weight Loss Medical Centre who had undergone both ultrasound examinations that yielded AC results and magnetic resonance imaging (MRI) scans including proton density fat fraction (PDFF). The first model, defined as the PDFF conversion fraction (PCF), used the MRI-PDFF results as the reference standard. The other model, defined as the attenuation level fraction (ALF), converted AC values into percentages based on the range of AC values from 0.5 to 1.0 dB/cm/MHz. Area under the receiver operating characteristic curve (AUC) analysis was used to evaluate the diagnostic performance of the two models. Results: Among the 199 participants (mean age, 38.12 ± 9.56 years; 110 male), the PDFF values differed significantly among the different liver segments (p < 0.05). The PDFF values of the left liver and right liver were 12.6% and 16.1%, respectively. There was a significant difference between them (p < 0.05). The AUCs of the AC, PCF, and ALF were 0.92, 0.93, and 0.87, respectively, for detecting mild steatosis (≥ S1), moderate steatosis (≥S2), and severe steatosis (≥S3) when PDFF values ≥ 5%, ≥15%, and ≥25% were used as the reference standard, respectively. Conclusions: The two fraction conversion models (PCF and ALF) yielded good and identical diagnostic accuracies in grading liver steatosis. Considering the heterogeneous pattern of liver steatosis, the ALF was a more objective parameter. Full article

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

► Show Figures

Figure 1

18 pages, 1153 KB

Open AccessSystematic Review

Quantitative Ultrasound SWE of Carotid Plaque in Symptomatic and Asymptomatic Patients: A Systematic Review and Meta-Analysis

by Salahaden R. Sultan, Faisal Albin Hajji, Muyaser Fatani, Ahmad Albngali, Abrar Alfatni, Amal Alsalamah, Reem T. Alturki, Abdullah M. Abdullah, Reda Jamjoom, Mohammad Khalil, Mohammed Alkharaiji and Adel Alzahrani

Diagnostics 2026, 16(7), 1085; https://doi.org/10.3390/diagnostics16071085 - 3 Apr 2026

Viewed by 677

Abstract

Background/Objectives: Ultrasound shear-wave elastography (SWE) enables quantitative assessment of tissue stiffness and may provide a non-invasive biomarker of carotid plaque vulnerability. This study aimed to evaluate the ability of SWE to differentiate symptomatic from asymptomatic carotid plaques and to assess its reproducibility. Methods: [...] Read more.

Background/Objectives: Ultrasound shear-wave elastography (SWE) enables quantitative assessment of tissue stiffness and may provide a non-invasive biomarker of carotid plaque vulnerability. This study aimed to evaluate the ability of SWE to differentiate symptomatic from asymptomatic carotid plaques and to assess its reproducibility. Methods: A systematic search of PubMed, Web of Science, EMBASE, and the Cochrane Library was conducted in the last ten years until January 2026 for publications evaluating carotid plaques using ultrasound SWE. Inclusion criteria required original publications that used quantitative ultrasound SWE parameters for the evaluation of carotid plaque in symptomatic and asymptomatic patients and/or investigated the reproducibility of SWE parameters for carotid plaques; non-carotid studies, non-original articles, and studies not comparing symptomatic versus asymptomatic plaques or not reporting reproducibility were excluded. Fourteen studies comprising 1781 carotid plaques were included. Quantitative SWE measurements were meta-analyzed using random effects. Differences between symptomatic and asymptomatic plaques were assessed using standardized mean differences (SMDs). The reproducibility of SWE measurements was evaluated using pooled correlation coefficients. Publication bias was evaluated using funnel plots and Egger’s regression test. Results: Ten studies including 1246 plaques compared SWE stiffness between symptomatic (n = 472) and asymptomatic plaques (n = 774). The meta-analysis demonstrated significantly lower stiffness values in symptomatic plaques compared with asymptomatic plaques (SMD −1.10, p < 0.001). Reproducibility analysis of correlation coefficients extracted from seven studies demonstrated excellent agreement for SWE measurements (r = 0.92, n = 602). Heterogeneity was observed across the included studies. No statistically significant evidence of publication bias was detected. Conclusions: Ultrasound SWE is a promising approach for assessing carotid plaque vulnerability, with lower SWE stiffness observed in symptomatic plaques compared to asymptomatic plaques. This finding should be interpreted with consideration of methodological heterogeneity and the cross-sectional nature of the available assessed evidence. Further prospective studies with standardized imaging protocols and longitudinal follow-up are needed to determine clinically applicable stiffness thresholds and evaluate the prognostic value of ultrasound SWE in cerebrovascular risk stratification. Full article

(This article belongs to the Special Issue Advanced Ultrasound Techniques in Diagnosis)

► Show Figures

Figure 1

10 pages, 625 KB

Open AccessReview

Ultrasound Assessment of the Anterolateral Ligament of the Knee: A Narrative Review of Current Evidence, Interpretative Limitations, and Clinical Context

by Paweł Niewiadomy and Katarzyna Szuścik-Niewiadomy

Diagnostics 2026, 16(7), 1084; https://doi.org/10.3390/diagnostics16071084 - 3 Apr 2026

Viewed by 677

Abstract

Rotational knee instability remains a relevant clinical problem, particularly in patients with anterior cruciate ligament injury, and has renewed interest in the anterolateral ligament (ALL) as a contributing structure. This narrative review critically synthesizes current anatomical, biomechanical, and ultrasonographic evidence regarding the ALL, [...] Read more.

Rotational knee instability remains a relevant clinical problem, particularly in patients with anterior cruciate ligament injury, and has renewed interest in the anterolateral ligament (ALL) as a contributing structure. This narrative review critically synthesizes current anatomical, biomechanical, and ultrasonographic evidence regarding the ALL, with emphasis on the interpretative capabilities and limitations of musculoskeletal ultrasound. Available data indicate that ultrasound allows anatomical identification of the ALL, primarily in asymptomatic populations, but does not support its use as a standalone diagnostic tool for ALL injury. Dynamic ultrasound approaches remain observational, non-standardized, and lack clinical validation. Ultrasound may be considered only as a complementary modality within a clearly defined clinical context. Full article

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

► Show Figures

Figure 1

16 pages, 1185 KB

Open AccessArticle

Leveraging Large Language Models for Automated Extraction of Abdominal Aortic Aneurysm Features from Radiology Reports

by Praneel Mukherjee, Ryan C. Lee, Roham Hadidchi, Sonya Henry, Michael Coard, Matthew Davis, Yossef Rubinov, Ha Nguyen-Luong, Leah Katz and Tim Q. Duong

Diagnostics 2026, 16(7), 1083; https://doi.org/10.3390/diagnostics16071083 - 3 Apr 2026

Viewed by 597

Abstract

Background/Objectives. Abdominal computed tomography (CT) radiology reports contain critical information for abdominal aortic aneurysm (AAA) management, including aneurysm presence, size, rupture status, and prior repair. However, this information is often embedded within lengthy, heterogeneous reports, making manual extraction inefficient. We evaluated the [...] Read more.

Background/Objectives. Abdominal computed tomography (CT) radiology reports contain critical information for abdominal aortic aneurysm (AAA) management, including aneurysm presence, size, rupture status, and prior repair. However, this information is often embedded within lengthy, heterogeneous reports, making manual extraction inefficient. We evaluated the performance of multiple large language models (LLMs) for automated extraction of AAA-related findings from radiology reports. Methods. We retrospectively analyzed 500 abdominal CT reports mentioning AAA from an urban academic health system (2020–2024). Ground truth labels were established by manual review. Four open-source LLMs (Qwen2.5-7B-Instruct, Llama3-Med42-8B, GPT-OSS-20B, and MedGemma-27B-text-it) were evaluated for extraction of aneurysm presence, size, morphology, rupture status, impending rupture, and prior aortic repair. Model outputs were compared with ground truth using exact-match accuracy, and inter-model agreement was assessed using Fleiss’ kappa. Reasoning traces were examined to characterize correct and incorrect model behavior. Results. Accuracy for identifying AAA presence ranged from 0.90 to 0.95 (κ = 0.851), and prior aortic repair from 0.90 to 0.97 (κ = 0.793). Accuracy for aneurysm size ranged from 0.67 to 0.88 (κ = 0.340), with low κ’s due to class imbalance or dimension misselection. Rupture and impending rupture were identified with accuracies exceeding 0.90 across models, though agreement was lower (κ = 0.485 and 0.589), reflecting low event prevalence. Larger models (GPT-OSS-20B, MedGemma-27B) generally outperformed smaller models. Reasoning analysis revealed strengths in measurement prioritization but recurrent errors, including dimension misselection, over-inference of prior repair, and conservative classification of rupture-related findings. Conclusions. LLMs can accurately extract clinically relevant AAA information from radiology reports with interpretable reasoning, with larger and medically trained models outperforming smaller or general-purpose models. Performance varies by task and model, underscoring the need for careful validation and human-in-the-loop deployment in clinical settings. Full article

(This article belongs to the Special Issue Large Language Models in Medical Diagnostics: Advancing Clinical Practice, Research, and Patient Care)

► Show Figures

Figure 1

Journal Menu

Journal Browser

Diagnostics, Volume 16, Issue 7 (April-1 2026) – 154 articles

Further Information

Guidelines

MDPI Initiatives

Follow MDPI