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Diagnostics, Volume 15, Issue 18 (September-2 2025) – 131 articles

Cover Story (view full-size image): Hepatic steatosis, or fatty liver, is a prevalent condition and an important precursor to cirrhosis and liver failure. Clinical diagnosis currently relies on invasive liver biopsy, as traditional computed tomography (CT) and simple attenuation thresholds lack the accuracy required to grade disease severity. Radiomics extracts high-dimensional quantitative features from medical images using mathematical formulas and enables fully automated characterization of subtle tissue patterns beyond human perception. In this study, we investigated whether CT radiomics combined with machine learning could predict histology-based steatosis severity in nonhuman primates. By identifying a radiomic signature of hepatic steatosis, our findings demonstrate the translational potential of this approach for non-invasive and objective diagnosis in humans. View this paper
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14 pages, 1281 KB  
Systematic Review
A Systematic Review of Optic Disc Drusen in the Modern Imaging Era: Structure–Function Correlates, Diagnostic Performance, and NAION Co-Occurrence
by Alina Dumitriu, Bogdan Dumitriu, Flavius George Socol, Ioana Denisa Socol, Ionela Iasmina Yasar, Camelia Fizedean, Adelina Mavrea, Andrei-Cristian Bondar and Mihnea Munteanu
Diagnostics 2025, 15(18), 2414; https://doi.org/10.3390/diagnostics15182414 - 22 Sep 2025
Viewed by 176
Abstract
Background and Objectives: Optic disc drusen (ODD) can mimic papilledema and are linked to structural crowding, microvascular change, and visual-field loss. We synthesized structural/microvascular differences, functional status and change, diagnostic performance, and ODD–NAION co-occurrence. Methods: This study used PRISMA-aligned searches of PubMed, Embase, [...] Read more.
Background and Objectives: Optic disc drusen (ODD) can mimic papilledema and are linked to structural crowding, microvascular change, and visual-field loss. We synthesized structural/microvascular differences, functional status and change, diagnostic performance, and ODD–NAION co-occurrence. Methods: This study used PRISMA-aligned searches of PubMed, Embase, and Web of Science (inception–15 July 2025). Eligible designs included cross-sectional, cohort, and diagnostic accuracy studies with numeric outcomes (OCT/OCTA, visual fields, test accuracy, NAION prevalence). Two reviewers independently screened, extracted, and appraised bias. Heterogeneity precluded meta-analysis; narrative synthesis was used. Bias risk was moderate. Results: From 359 records, 6 studies met the criteria. ODD eyes showed thicker RNFL than controls (117.54 ± 18.75 vs. 105.81 ± 14.45 µm; 101 ± 12 vs. 97 ± 10 µm) and worse baseline mean deviation (−1.78 ± 3.87 dB). OCTA demonstrated sectoral peripapillary vessel-area density reduction (inferior 0.30 vs. 0.34; temporal 0.44 vs. 0.48; superonasal 0.44 vs. 0.49). Visual-field phenotypes were normal (44–52%), enlarged blind spot (19–29%), and other localized defects (24–29%); the longitudinal decline averaged −0.23 ± 0.26 dB/year with 88% slow progressors. In pseudopapilledema, single-test yields were ultrasound at 87.2%, OCT at 80.2%, and FAF at 62.8%; OCT alone distinguished buried ODD from mild papilledema with 50–64% accuracy (κ ≈ 0.35). Among young NAION, ODD affected 56.7% of patients and 53.3% of eyes; bilaterality was 95.2%, and only 35.9% were ophthalmoscopically visible. Conclusions: Multimodal imaging shows structural thickening, microvascular rarefaction, and modest functional loss in ODD, with slow average progression. In suspected papilledema, protocolized multimodal workflows outperform OCT alone. ODD are common in young NAION, supporting risk stratification and longitudinal monitoring. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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21 pages, 1349 KB  
Article
Cytokine Profiles as Predictive Biomarkers of Disease Severity and Progression in Engineered Stone Silicosis: A Machine Learning Approach
by Daniel Sanchez-Morillo, Ana Martín-Carrillo, Blanca Priego-Torres, Iris Sopo-Lambea, Gema Jiménez-Gómez, Antonio León-Jiménez and Antonio Campos-Caro
Diagnostics 2025, 15(18), 2413; https://doi.org/10.3390/diagnostics15182413 - 22 Sep 2025
Viewed by 134
Abstract
Background/Objectives: Silicosis caused by dust from engineered stone (ES) exposure is an emerging occupational lung disease that severely impacts respiratory health. This study aimed to analyze the association between cytokine profiles and disease severity and progression in patients with engineered stone silicosis [...] Read more.
Background/Objectives: Silicosis caused by dust from engineered stone (ES) exposure is an emerging occupational lung disease that severely impacts respiratory health. This study aimed to analyze the association between cytokine profiles and disease severity and progression in patients with engineered stone silicosis (ESS) to assess their potential as biomarkers of progression and their usefulness to stratify risk. Methods: A longitudinal study was conducted with a seven-year follow-up (2017-2024) on 72 workers with simple silicosis (SS) or progressive massive fibrosis (PMF), all with a history of cutting, polishing, and finishing ES countertops. Data on lung function and levels of 27 cytokines were collected at four control points. Machine learning (ML) models were built to classify the disease stage and predict its progression. Results: 39% of patients with SS progressed to PMF. Significant differences in the expression of some cytokines were observed between ESS stages, suggesting a role in the evolution of the inflammatory process. Specifically, higher levels of IL-1RA, IL-8, IL-9, and IFN-γ were found at checkpoint 1 in patients with PMF compared to SS. The longitudinal analysis revealed a significant relationship between IL-1RA and MCP-1α and disease duration with MCP-1α also being associated with time and disease grade. Machine learning (ML) models were built using the cytokines selected through a sequential backward feature selection. The Support Vector Machine model achieved an accuracy of 83% in classifying disease stage (SS, PMF), and of 77% in predicting the disease progression. Conclusions: The findings suggest that cytokines can be used as dynamic biomarkers to reflect underlying inflammatory processes and monitor disease evolution. The performance of ML algorithms to predict diagnostic status based on cytokine profiles highlights their clinical value in supporting early diagnosis, monitoring disease progression, and guiding clinical decisions. Full article
(This article belongs to the Collection Artificial Intelligence in Medical Diagnosis and Prognosis)
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14 pages, 273 KB  
Article
The Contingency of Reported sST2 Serum Concentrations with a Protein Detection System (ELISA) from the Same Manufacturer (R&D Biotechne, 2002–2025): An Explanatory Effort by Applied Medical Researchers
by Marie-Therese Lingitz, Hannes Kühtreiber, Lisa Auer, Michael Mildner, Bernhard Moser, Christine Bekos, Clemens Aigner, Martin Direder, Thomas Mueller and Hendrik Jan Ankersmit
Diagnostics 2025, 15(18), 2412; https://doi.org/10.3390/diagnostics15182412 - 22 Sep 2025
Viewed by 197
Abstract
Background/Objectives: Soluble ST2 (sST2) has gained recognition as a clinically relevant biomarker across a spectrum of inflammatory, cardiovascular, and respiratory conditions. However, the lack of assay standardization raises concerns about result comparability across platforms and studies. Methods: This study systematically evaluated [...] Read more.
Background/Objectives: Soluble ST2 (sST2) has gained recognition as a clinically relevant biomarker across a spectrum of inflammatory, cardiovascular, and respiratory conditions. However, the lack of assay standardization raises concerns about result comparability across platforms and studies. Methods: This study systematically evaluated serum sST2 concentrations measured with two ELISA systems—DuoSet and Quantikine—produced by the same manufacturer (R&D Systems, Minneapolis, MN, USA). Results: Using archived serum samples from healthy volunteers and marathon runners, we identified marked discrepancies: serum sST2 concentrations using the DuoSet recombinant standard were on average 4.3-fold higher than those using Quantikine (median 308.3 [106.6–608.6] vs. 71.5 [41.8–115.6] ng/mL). On the pre-coated Quantikine plate, using the DuoSet recombinant standard increased calculated concentrations 4.3-fold compared with the native Quantikine standard (median 308.3 [106.6–608.6] vs. 71.5 [41.8–115.6] ng/mL). On the manually coated DuoSet plate, the DuoSet standard yielded higher medians than the Quantikine standard (8.0 [5.6–11.3] vs. 5.0 [3.7–7.4] ng/mL). Furthermore, between-lot variability within the same ELISA platform resulted in concentration shifts from 0.09 [0.07–0.10] ng/mL (2016) to 1.17 [0.81–3.23] ng/mL (2023) using the same sample. Previously published studies also exhibited wide inter-study variability among healthy cohorts. Conclusions: These findings emphasize that current ELISA systems for sST2 are not standardized and that cross-study comparisons should be interpreted with caution. Until universal standardization is implemented, sST2 should primarily be used for within-study comparisons. This variability may limit the reliability of longitudinal sST2 assessment even in clinical settings. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
10 pages, 4074 KB  
Case Report
Collision Tumor of Angioimmunoblastic T-Cell Lymphoma and Kaposi Sarcoma in an HIV-Negative Elderly Woman: The First Reported Case in Asia
by Myung-Won Lee and Jin-Man Kim
Diagnostics 2025, 15(18), 2411; https://doi.org/10.3390/diagnostics15182411 - 22 Sep 2025
Viewed by 162
Abstract
Background/Objectives: Angioimmunoblastic T-cell lymphoma (AITL) is a rare peripheral T-cell lymphoma of follicular helper T-cell (TFH) origin, often associated with immune dysregulation and EBV-positive B-cell proliferation. Kaposi sarcoma (KS) is a vascular neoplasm caused by human herpesvirus 8 (HHV-8), typically arising in immunocompromised [...] Read more.
Background/Objectives: Angioimmunoblastic T-cell lymphoma (AITL) is a rare peripheral T-cell lymphoma of follicular helper T-cell (TFH) origin, often associated with immune dysregulation and EBV-positive B-cell proliferation. Kaposi sarcoma (KS) is a vascular neoplasm caused by human herpesvirus 8 (HHV-8), typically arising in immunocompromised individuals. The synchronous occurrence of AITL and KS in HIV-negative patients is exceptionally rare, with only three cases previously reported worldwide. Case Presentation: We describe an 81-year-old HIV-negative Korean woman presenting with progressive generalized edema and dyspnea. Imaging revealed multifocal lymphadenopathy. Excisional biopsy of the inguinal lymph node showed two distinct but adjacent neoplastic processes. The AITL component demonstrated a polymorphous infiltrate of atypical TFH cells expressing CD3, CD4, CD10, PD-1, and Bcl-6, with monoclonal TCR-γ rearrangement and TET2 and RHOA mutations. The KS component comprised spindle cells with slit-like vascular spaces, red blood cell extravasation, and immunoreactivity for HHV-8, CD31, CD34, and ERG. The findings were consistent with a collision tumor. Despite supportive care, the patient’s condition deteriorated, and she was discharged with palliative care. Discussion: The coexistence of AITL and KS in an HIV-negative setting raises important pathogenetic considerations. AITL is characterized by profound immune dysregulation, with depletion of normal T-cell subsets, abnormal B-cell activation, and cytokine milieu changes that may favor latent viral reactivation. This immunologic environment may permit HHV-8 reactivation, thereby facilitating the development of KS even in the absence of overt immunodeficiency due to HIV infection. Our findings support the hypothesis that AITL-related immune dysfunction may create a permissive niche for HHV-8-driven neoplasia. Conclusions: This is the first reported case in Asia and the fourth worldwide of a collision tumor comprising AITL and KS in an HIV-negative patI dient. The case suggests that AITL-associated immune dysregulation may facilitate HHV-8 reactivation and KS development even in the absence of HIV infection. Awareness of this association is critical for accurate diagnosis and optimal patient management. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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11 pages, 3371 KB  
Case Report
A Relapsed AML Case Featuring MYC and MECOM Rearrangements
by Kevin A. Murgas, Pons Materum III, Luke Z. Li, Jacob Rocha, Michael Schuster, Tahmeena Ahmed and Carlos A. Tirado
Diagnostics 2025, 15(18), 2410; https://doi.org/10.3390/diagnostics15182410 - 22 Sep 2025
Viewed by 182
Abstract
Background/Objectives: Relapsed acute myeloid leukemia (AML) is often characterized by clonal evolution and acquired genomic abnormalities, which can inform prognosis and direct therapeutic decisions. The emergence of high-risk chromosomal rearrangements during relapse is of particular significance, yet the impact of rare and complex [...] Read more.
Background/Objectives: Relapsed acute myeloid leukemia (AML) is often characterized by clonal evolution and acquired genomic abnormalities, which can inform prognosis and direct therapeutic decisions. The emergence of high-risk chromosomal rearrangements during relapse is of particular significance, yet the impact of rare and complex events remains poorly understood. This report details a case of relapsed AML that demonstrated rare MYC and MECOM rearrangements and additional features that were not observed at initial diagnosis, emphasizing the clinical relevance of serial cytogenetic assessments. Case Description: A 70-year-old man was initially diagnosed with AML, exhibiting monocytic differentiation, an 11q23 deletion involving KMT2A loss, and a U2AF1 mutation. After achieving remission with azacitidine and venetoclax, the patient relapsed within ten months, necessitating reevaluation and modification of therapy. Repeat cytogenetic analysis at relapse revealed a distinct t(3;8)(q26.2;q24.3) exhibiting MYC and MECOM rearrangements, features that were absent at initial diagnosis. Conclusions: This case underscores the importance of serial cytogenetic and molecular profiling in relapsed AML. The emergence of new abnormalities upon relapse suggested underlying genomic instability and clonal evolution. MYC rearrangements are notably rare in AML, especially with concurrent MECOM rearrangements, highlighting a unique feature of this case. The identification of novel abnormalities at relapse may carry prognostic and therapeutic significance and may be used to refine risk stratification. Thus, ongoing cytogenetic monitoring is essential to adapt management approaches in evolving disease contexts. Full article
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17 pages, 918 KB  
Article
Criteria and Protocol: Assessing Generative AI Efficacy in Perceiving EULAR 2019 Lupus Classification
by Gerald H. Lushington, Sandeep Nair, Eldon R. Jupe, Bernard Rubin and Mohan Purushothaman
Diagnostics 2025, 15(18), 2409; https://doi.org/10.3390/diagnostics15182409 - 22 Sep 2025
Viewed by 184
Abstract
Background/Objectives: In clinical informatics, the term ‘information overload’ is increasingly used to describe the operational impediments of excessive documentation. While electronic health records (EHRs) are growing in abundance, many medical records (MRs) remain in legacy formats that impede efficient, systematic processing, contributing to [...] Read more.
Background/Objectives: In clinical informatics, the term ‘information overload’ is increasingly used to describe the operational impediments of excessive documentation. While electronic health records (EHRs) are growing in abundance, many medical records (MRs) remain in legacy formats that impede efficient, systematic processing, contributing to the extenuating challenges of care fragmentation. Thus, there is a growing interest in using generative AI (genAI) for automated MR summarization and characterization. Methods: MRs for a set of 78 individuals were digitized. Some were known systemic lupus erythematosus (SLE) cases, while others were under evaluation for possible SLE classification. A two-pass genAI assessment strategy was implemented using the Claude 3.5 large language model (LLM) to mine MRs for information relevant to classifying SLE vs. undifferentiated connective tissue disorder (UCTD) vs. neither via the 22-criteria EULAR 2019 model. Results: Compared to clinical determination, the antinuclear antibody (ANA) criterion (whose results are crucial for classifying SLE-negative cases) exhibited favorable sensitivity 0.78 ± 0.09 (95% confidence interval) and a positive predictive value 0.85 ± 0.08 but a marginal performance for specificity 0.60 ± 0.11 and uncertain predictivity for the negative predictive value 0.48 ± 0.11. Averaged over the remaining 21 criteria, these four performance metrics were 0.69 ± 0.11, 0.87 ± 0.04, 0.54 ± 0.10, and 0.93 ± 0.03. Conclusions: ANA performance statistics imply that genAI yields confident assessments of SLE negativity (per high sensitivity) but weaker positivity. The remaining genAI criterial determinations support (per specificity) confident assertions of SLE-positivity but tend to misclassify a significant fraction of clinical positives as UCTD. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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18 pages, 1597 KB  
Article
A Comparative Analysis of SegFormer, FabE-Net and VGG-UNet Models for the Segmentation of Neural Structures on Histological Sections
by Igor Makarov, Elena Koshevaya, Alina Pechenina, Galina Boyko, Anna Starshinova, Dmitry Kudlay, Taiana Makarova and Lubov Mitrofanova
Diagnostics 2025, 15(18), 2408; https://doi.org/10.3390/diagnostics15182408 - 22 Sep 2025
Viewed by 185
Abstract
Background: Segmenting nerve fibres in histological images is a tricky job because of how much the tissue looks can change. Modern neural network architectures, including U-Net and transformers, demonstrate varying degrees of effectiveness in this area. The aim of this study is to [...] Read more.
Background: Segmenting nerve fibres in histological images is a tricky job because of how much the tissue looks can change. Modern neural network architectures, including U-Net and transformers, demonstrate varying degrees of effectiveness in this area. The aim of this study is to conduct a comparative analysis of the SegFormer, VGG-UNet, and FabE-Net models in terms of segmentation quality and speed. Methods: The training sample consisted of more than 75,000 pairs of images of different tissues (original slice and corresponding mask), scaled from 1024 × 1024 to 224 × 224 pixels to optimise computations. Three neural network architectures were used: the classic VGG-UNet, FabE-Net with attention and global context perception blocks, and the SegFormer transformer model. For an objective assessment of the quality of the models, expert validation was carried out with the participation of four independent pathologists, who evaluated the quality of segmentation according to specified criteria. Quality metrics (precision, recall, F1-score, accuracy) were calculated as averages based on the assessments of all experts, which made it possible to take into account variability in interpretation and increase the reliability of the results. Results: SegFormer achieved stable stabilisation of the loss function faster than the other models—by the 20–30th epoch, compared to 45–60 epochs for VGG-UNet and FabE-Net. Despite taking longer to train per epoch, SegFormer produced the best segmentation quality, with the following metrics: precision 0.84, recall 0.99, F1-score 0.91 and accuracy 0.89. It also annotated a complete histological section in the fastest time. Visual analysis revealed that, compared to other models, which tended to produce incomplete or excessive segmentation, SegFormer more accurately and completely highlights nerve structures. Conclusions: Using attention mechanisms in SegFormer compensates for morphological variability in tissues, resulting in faster and higher-quality segmentation. Image scaling does not impair training quality while significantly accelerating computational processes. These results confirm the potential of SegFormer for practical use in digital pathology, while also highlighting the need for high-precision, immunohistochemistry-informed labelling to improve segmentation accuracy. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Neurological Disorders, 2nd Edition)
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14 pages, 813 KB  
Article
Ultrasonographic Median Nerve Cross-Sectional Area and Clinical, Electrodiagnostic, and Laboratory Biomarkers in Electrodiagnostically Confirmed Carpal Tunnel Syndrome: A Single-Center Correlational Study
by Hasan Kara, Hüseyin Kaplan, Fatma Nur Aba, Servin Karaca and İsa Cüce
Diagnostics 2025, 15(18), 2407; https://doi.org/10.3390/diagnostics15182407 - 22 Sep 2025
Viewed by 226
Abstract
Objectives: This study aimed to evaluate the relationship between the median nerve cross-sectional area (CSA, mm2) and clinical findings, blood test results, and electrodiagnostic (EDX) measurements in patients with carpal tunnel syndrome (CTS). Methods: This cross-sectional study included 62 patients (111 [...] Read more.
Objectives: This study aimed to evaluate the relationship between the median nerve cross-sectional area (CSA, mm2) and clinical findings, blood test results, and electrodiagnostic (EDX) measurements in patients with carpal tunnel syndrome (CTS). Methods: This cross-sectional study included 62 patients (111 hands). The median nerve CSA was assessed using ultrasound (US). The clinical assessment included symptom duration, symptom severity, the Boston Carpal Tunnel Questionnaire (BCTQ), and physical examination. Patient-level analyses used the CSA of the most symptomatic hand for clinical and laboratory variables (n = 62 patients). Hand-level EDX analyses accounted for within-patient clustering by reporting right and left hands separately. Associations were summarized with Spearman’s ρ and 95% confidence intervals (CIs); multiplicity was addressed using Benjamini–Hochberg false discovery rate (FDR). EDX units: latency ms, amplitude mV/µV, and velocity m/s. Results: CSA was not associated with global symptom burden (Visual Analog Scale; BCTQ). No laboratory marker remained significant after FDR across the full panel. By contrast, CSA correlated with EDX impairment at the hand level with low-to-moderate effect sizes; for example, distal motor latency was positively associated with CSA on the right (ρ = 0.557, 95% CI 0.334–0.733) and left (ρ = 0.318, 95% CI 0.022–0.578). CSA also correlated positively with CTS EDX severity (right: ρ = 0.449, 95% CI 0.223–0.646; left: ρ = 0.354, 95% CI 0.071–0.609). Conclusions: Ultrasonographic CSA was associated with electrophysiologic impairment and was not associated with overall symptom burden; laboratory signals did not survive FDR control. Accordingly, CSA may serve as a complementary morphologic adjunct to clinical assessment and EDX, with limited utility as a stand-alone severity metric. Full article
(This article belongs to the Special Issue Advanced Musculoskeletal Imaging in Clinical Diagnostics)
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11 pages, 542 KB  
Article
Cumulative Effect of Metabolic Factors on Hepatic Steatosis
by Anna Egresi, Brigitta Kozma, Márton Karácsony, Aladár Rónaszéki, Klára Werling, Barbara Csongrády, Pál Kaposi Novák, Anikó Folhoffer, Attila Szijártó and Krisztina Hagymási
Diagnostics 2025, 15(18), 2406; https://doi.org/10.3390/diagnostics15182406 - 22 Sep 2025
Viewed by 240
Abstract
Background/Objectives: Hepatic steatosis, a hallmark of metabolic dysfunction-associated steatotic liver disease (MASLD), is closely associated with systemic metabolic dysfunction. However, the cumulative impact of metabolic risk factors on liver fat content remains underexplored. To evaluate the association between metabolic risk factors and hepatic [...] Read more.
Background/Objectives: Hepatic steatosis, a hallmark of metabolic dysfunction-associated steatotic liver disease (MASLD), is closely associated with systemic metabolic dysfunction. However, the cumulative impact of metabolic risk factors on liver fat content remains underexplored. To evaluate the association between metabolic risk factors and hepatic steatosis severity using magnetic resonance imaging proton density fat fraction (MR-PDFF) measurement, and to assess the cumulative effect of multiple metabolic abnormalities. Methods: In this cross-sectional study, MASLD patients (n = 132, aged ≥ 18 years, age: 61.3 ± 10.3, male: 54, female: 78) underwent metabolic risk assessment and MR-PDFF liver fat content measurement. The association between certain metabolic risk scores (obesity/overweight, hypertension, hypercholesterolemia, hypertriglyceridemia, impaired fasting glucose or type 2 diabetes mellitus) both continuous and categorized, as well as liver fat content was analyzed using linear regression models. The cumulative effect of increasing metabolic risk was further explored with subgroup comparisons. Results: A significant positive association was observed between continuous metabolic risk scores and MR-PDFF values (β = 0.021, p < 0.001). Participants with higher cumulative metabolic risk (4 and 5 risk factors group) showed significantly higher liver fat content compared to the reference group (p < 0.01) (MetfO0 = 5.7 ± 5.9%; MetfO1 = 11.6 ± 9.5%; MetfO2 = 7.9 ± 5.6%; MetfO3 = 10.2 ± 7.9%; MetfO4 = 16.4 ± 11.0%; MetfO5 = 17.8 ± 9.5%). Intermediate metabolic risk categories showed a trend toward increased steatosis but did not reach statistical significance. Conclusions: Cumulative metabolic risk is strongly associated with increased hepatic fat accumulation. These findings underscore the need for early identification and management of metabolic risk factors to prevent the development and progression of hepatic steatosis. Full article
(This article belongs to the Special Issue Diagnostic and Prognostic Markers in Liver Diseases)
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16 pages, 1068 KB  
Article
Impact of 68Ga-PSMA PET/MRI on the Accuracy of MRI-Derived Grading Systems for Predicting Extraprostatic Extension in Prostate Cancer
by Lebriz Uslu-Beşli, Selahattin Durmaz, Aslıhan Onay, Barış Bakır, İclal Gürses, Sevda Özel-Yıldız, Çetin Demirdağ and Haluk Burçak Sayman
Diagnostics 2025, 15(18), 2405; https://doi.org/10.3390/diagnostics15182405 - 22 Sep 2025
Viewed by 226
Abstract
Objectives: Accurate preoperative staging and prediction of extraprostatic extension (EPE) are critical for optimal surgical planning in prostate cancer (PCa). This study evaluated the diagnostic accuracy of 68Ga-PSMA PET for EPE assessment, compared it with the standardized multiparametric MRI (mpMRI)-derived EPE-grading [...] Read more.
Objectives: Accurate preoperative staging and prediction of extraprostatic extension (EPE) are critical for optimal surgical planning in prostate cancer (PCa). This study evaluated the diagnostic accuracy of 68Ga-PSMA PET for EPE assessment, compared it with the standardized multiparametric MRI (mpMRI)-derived EPE-grading system, and examined whether integrating semi-quantitative PSMA PET parameters improves diagnostic performance using hybrid PET/MRI. Methods: This retrospective, single-center study included treatment-naïve, biopsy-proven PCa patients who underwent 68Ga-PSMA-11 PET/MRI followed by radical prostatectomy. Diagnostic accuracy was assessed for clinical variables (PSA, ISUP grade), mpMRI features, mpMRI-derived EPE-grading system, visual PET findings, and semi-quantitative PET parameters (SUVmax, SUVmean, PSMA-tumor volume [PSMA-TV]). Optimal cut-offs were determined using the Youden index. Multivariate logistic regression and receiver operating characteristic (ROC) analyses were performed to compare the predictive value of clinical, mpMRI, or PET-derived variables, with histopathology as the reference standard. Results: Forty-five patients were included; EPE was histologically confirmed in 19 (42.2%). Predictors of EPE included capsular irregularity, neurovascular bundle asymmetry, curvilinear contact length ≥ 1.5 cm, seminal vesicle invasion, tumor size ≥ 14.25 mm, EPE grade ≥ 2, ISUP grade ≥ 3, overt EPE on PET, SUVmax ≥ 13.84, SUVmean ≥ 7.20, and PSMA-TV ≥ 1.40 cm3. The highest ROC performance (AUC = 0.890) was achieved by combining overt EPE on PET, SUVmax, and PSMA-TV. Incorporating PET parameters or tumor size into the EPE-grading system improved predictive accuracy. Conclusions: PSMA uptake in the primary tumor is an independent predictor of EPE. Integrating PSMA PET with mpMRI may provide additional information for preoperative EPE assessment. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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22 pages, 3267 KB  
Article
A Comparative Evaluation of Meta-Learning Models for Few-Shot Chest X-Ray Disease Classification
by Luis-Carlos Quiñonez-Baca, Graciela Ramirez-Alonso, Fernando Gaxiola, Alain Manzo-Martinez, Raymundo Cornejo and David R. Lopez-Flores
Diagnostics 2025, 15(18), 2404; https://doi.org/10.3390/diagnostics15182404 - 21 Sep 2025
Viewed by 277
Abstract
Background/Objectives: The limited availability of labeled data, particularly in the medical domain, poses a significant challenge for training accurate diagnostic models. While deep learning techniques have demonstrated notable efficacy in image-based tasks, they require large annotated datasets. In data-scarce scenarios—especially involving rare [...] Read more.
Background/Objectives: The limited availability of labeled data, particularly in the medical domain, poses a significant challenge for training accurate diagnostic models. While deep learning techniques have demonstrated notable efficacy in image-based tasks, they require large annotated datasets. In data-scarce scenarios—especially involving rare diseases—their performance deteriorates significantly. Meta-learning offers a promising alternative by enabling models to adapt quickly to new tasks using prior knowledge and only a few labeled examples. This study aims to evaluate the effectiveness of representative meta-learning models for thoracic disease classification in chest X-rays. Methods: We conduct a comparative evaluation of four meta-learning models: Prototypical Networks, Relation Networks, MAML, and FoMAML. First, we assess five backbone architectures (ConvNeXt, DenseNet-121, ResNet-50, MobileNetV2, and ViT) using a Prototypical Network. The best-performing backbone is then used across all meta-learning models for fair comparison. Experiments are performed on the ChestX-ray14 dataset under a 2-way setting with multiple k-shot configurations. Results: Prototypical Networks combined with DenseNet-121 achieved the best performance, with a recall of 68.1%, an F1-score of 67.4%, and a precision of 0.693 in the 2-way, 10-shot configuration. In a disease-specific analysis, Hernia obtains the best classification results. Furthermore, Prototypical and Relation Networks demonstrate significantly higher computational efficiency, requiring fewer FLOPs and shorter execution times than MAML and FoMAML. Conclusions: Prototype-based meta-learning, particularly with DenseNet-121, proves to be a robust and computationally efficient approach for few-shot chest X-ray disease classification. These findings highlight its potential for real-world clinical applications, especially in scenarios with limited annotated medical data. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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13 pages, 728 KB  
Article
Serum Galectin-3 and Presepsin Levels in Pediatric Familial Mediterranean Fever Patients During Remission: A Prospective Study
by Seyda Dogantan, Peren Perk, Arzu Sekerci Yuksel, Rahime Koc and Adem Keskin
Diagnostics 2025, 15(18), 2403; https://doi.org/10.3390/diagnostics15182403 - 21 Sep 2025
Viewed by 202
Abstract
Background/Objectives: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome, characterized by recurrent fever attacks and serositis. Galectin-3, a β-galactoside-binding lectin involved in inflammation and fibrosis, and presepsin, an established biomarker for bacterial infection and sepsis, have emerged as potential biomarkers [...] Read more.
Background/Objectives: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome, characterized by recurrent fever attacks and serositis. Galectin-3, a β-galactoside-binding lectin involved in inflammation and fibrosis, and presepsin, an established biomarker for bacterial infection and sepsis, have emerged as potential biomarkers for improving diagnostic and prognostic accuracy in autoinflammatory diseases. However, their use in FMF patients is not sufficiently evaluated. This study aims to compare serum galectin-3 and presepsin levels in children with FMF and healthy controls and assess their correlations with conventional acute-phase reactants. Methods: This prospective cross-sectional study included 74 children with confirmed FMF during attack-free periods and 67 age- and gender-matched healthy controls. Clinical and genetic characteristics, complete blood count, C-reactive protein (CRP), serum amyloid-A (SAA), and erythrocyte sedimentation rate (ESR) were recorded. Serum galectin-3 and presepsin levels were measured. Group comparisons and correlation analyses were performed using appropriate statistical tests. Results: Median serum galectin-3 and presepsin was significantly higher in FMF patients than controls (p < 0.001). ESR was significantly higher in FMF patients (p < 0.001), while CRP and SAA showed no significant differences. Correlation analysis revealed a strong positive correlation between galectin-3 and presepsin (r = 0.860, p < 0.001) in FMF patients, with neither correlating with other acute-phase reactants. Conclusions: Galectin-3 and presepsin were found to serve as novel biomarkers reflecting alternative inflammatory pathways in FMF, even during remission. These results, obtained during the attack-free period, indicate the need for further studies to determine the relationship between galectin-3 and presepsin levels and disease activity in FMF. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
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11 pages, 826 KB  
Article
A Novel Virtual Reality-Based System for Measuring Deviation Angle in Strabismus: A Prospective Study
by Jhih-Yi Lu, Yin-Cheng Liu, Jui-Bang Lu, Ming-Han Tsai, Wen-Ling Liao, I-Ming Wang, Hui-Ju Lin and Yu-Te Huang
Diagnostics 2025, 15(18), 2402; https://doi.org/10.3390/diagnostics15182402 - 20 Sep 2025
Viewed by 179
Abstract
Background/Objectives: To develop a new Virtual Reality (VR) system software for measuring ocular deviation in strabismus patients. Methods: This prospective study included subjects with basic-type exotropia (XT) and non-refractive accommodative esotropia (ET). Ocular deviation was measured using the alternate prism cover [...] Read more.
Background/Objectives: To develop a new Virtual Reality (VR) system software for measuring ocular deviation in strabismus patients. Methods: This prospective study included subjects with basic-type exotropia (XT) and non-refractive accommodative esotropia (ET). Ocular deviation was measured using the alternate prism cover test (APCT) and two VR-based methods: target offset (TO) and a newly developed camera rotation (CR) method. Results: A total of 28 subjects were recruited (5 cases were excluded for preliminary testing and 5 for not meeting inclusion criteria). Among the 18 included patients, 10 (66.7%) had XT and 5 (33.3%) had ET. The median age was 21.5 years (IQR 17 to 25). The mean age was 22.3 years (range: 9–46), with 5 (27.8%) having manifest strabismus and 12 (61.1%) measured while wearing glasses. VR-based methods (TO and CR) showed comparable results to APCT for deviation angle measurements (p = 0.604). Subgroup analysis showed no significant differences in ET patients (all p > 0.05). In XT patients, both TO and CR underestimated deviation angles compared to APCT (p = 0.008 and p = 0.001, respectively), but no significant difference was observed between the two methods (p = 0.811). Linear regression showed CR had a stronger correlation with APCT than TO (R2 = 0.934 vs. 0.874). Conclusions: This newly developed VR system software, incorporating the CR method, provides a reliable approach for measuring ocular deviation. By shifting the entire visual scene rather than just the target, it lays a strong foundation for immersive diagnostic and therapeutic VR applications. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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13 pages, 1008 KB  
Article
Does the Position of the Mandibular Third Molar Have an Effect on the Lingual Bone Morphology? A Cone Beam Computed Tomography Evaluation
by Ezgi Yüceer-Çetiner, Özgür Sakarya, Attila Vural and Dilara Kazan
Diagnostics 2025, 15(18), 2401; https://doi.org/10.3390/diagnostics15182401 - 20 Sep 2025
Viewed by 205
Abstract
Background/Objectives: This study aimed to investigate the association between the position of impacted mandibular third molars and the morphology of the lingual cortical bone using cone beam computed tomography (CBCT), and to determine how impaction depth and angulation influence the risk of lingual [...] Read more.
Background/Objectives: This study aimed to investigate the association between the position of impacted mandibular third molars and the morphology of the lingual cortical bone using cone beam computed tomography (CBCT), and to determine how impaction depth and angulation influence the risk of lingual cortical perforation. Methods: CBCT scans of 120 impacted mandibular third molars from 71 adult patients were retrospectively evaluated. Teeth were classified based on Pell & Gregory’s and Winter’s classifications. Lingual cortical morphology was categorized as undercut, parallel, slanted, or round. The relationship between the root apex and the lingual plate was classified as non-contact, contact, or perforating. Linear measurements included cortical lingual bone thickness and the distance from the apex to the outer surface of the lingual cortex. Results: Lingual bone morphology showed significant associations with both impaction depth and angulation, with parallel morphology more common in deeper and more angulated impactions. Lingual cortical perforation was observed in approximately 30% of the teeth, predominantly at the apex, with horizontal and deeply impacted molars (Class II, Level C) representing the highest-risk configurations. Although cortical thickness and apex-to-cortex distance were significantly smaller in apically perforated cases, no definitive threshold could be established, and these parameters were insufficient as standalone predictors at the cementoenamel junction or mid-root levels. Conclusions: Tooth angulation and impaction depth are significant predictors of lingual bone morphology and perforation risk. CBCT imaging is therefore recommended beyond low-risk cases (Level A, Class I, vertical) to improve preoperative planning, strengthen informed consent, and guide surgical strategies aimed at minimizing complications and enhancing patient safety. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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11 pages, 459 KB  
Article
Elevated Serum Trimethylamine N-Oxide Predicts Impaired Vascular Reactivity in Patients with Hypertension
by I-Min Su, Ji-Hung Wang, Chin-Hung Liu and Bang-Gee Hsu
Diagnostics 2025, 15(18), 2400; https://doi.org/10.3390/diagnostics15182400 - 20 Sep 2025
Viewed by 230
Abstract
Background/Objectives: Trimethylamine N-oxide (TMAO), a gut microbiota-derived metabolite influenced by diet, has been linked to cardiovascular disease. Endothelial dysfunction, an early sign of vascular damage, is common in hypertension. This study examined the relationship between serum TMAO levels and endothelial function, assessed [...] Read more.
Background/Objectives: Trimethylamine N-oxide (TMAO), a gut microbiota-derived metabolite influenced by diet, has been linked to cardiovascular disease. Endothelial dysfunction, an early sign of vascular damage, is common in hypertension. This study examined the relationship between serum TMAO levels and endothelial function, assessed by the vascular reactivity index (VRI), in patients with hypertension. Methods: In total, 110 patients with hypertension were enrolled. Fasting serum TMAO was measured using high-performance liquid chromatography–mass spectrometry. Endothelial function was evaluated via digital thermal monitoring, with VRI categorized as good (>2.0), intermediate (1.0–1.9), or poor (<1.0). Results: Of the participants, 10 (9.1%) exhibited poor vascular reactivity, 57 (51.8%) had intermediate reactivity, and 43 (39.1%) exhibited good vascular reactivity. Poor reactivity correlated with older age (p = 0.010), higher total cholesterol (p = 0.007), low-density lipoprotein cholesterol (p = 0.009), and higher TMAO levels (p < 0.001). In multivariate forward stepwise linear regression, the log-transformed TMAO level (log-TMAO) remained independently and inversely associated with VRI (p < 0.001). Logistic regression analyses demonstrated that elevated TMAO concentrations were significantly associated with an increased likelihood of vascular reactivity dysfunction (intermediate and poor groups combined; odds ratio [OR] = 1.10, 95% confidence interval [CI]: 1.047–1.155; p < 0.001) and, in particular, with poor vascular reactivity (OR = 1.58, 95% CI: 1.002–2.492; p = 0.049). Conclusions: Elevated serum TMAO is independently associated with endothelial dysfunction in hypertension. Full article
(This article belongs to the Special Issue New Advances in Cardiovascular Risk Prediction)
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14 pages, 1881 KB  
Article
MRI Radiomics for Predicting the Diffuse Type of Tenosynovial Giant Cell Tumor: An Exploratory Study
by Seul Ki Lee, Min Wook Joo, Jee-Young Kim and Mingeon Kim
Diagnostics 2025, 15(18), 2399; https://doi.org/10.3390/diagnostics15182399 - 20 Sep 2025
Viewed by 235
Abstract
Objective: To develop and validate a radiomics-based MRI model for prediction of diffuse-type tenosynovial giant cell tumor (D-TGCT), which has higher postoperative recurrence and more aggressive behavior than localized-type (L-TGCT). The study was conducted under the hypothesis that MRI-based radiomics models can predict [...] Read more.
Objective: To develop and validate a radiomics-based MRI model for prediction of diffuse-type tenosynovial giant cell tumor (D-TGCT), which has higher postoperative recurrence and more aggressive behavior than localized-type (L-TGCT). The study was conducted under the hypothesis that MRI-based radiomics models can predict D-TGCT with diagnostic performance significantly greater than chance level, as measured by the area under the receiver operating characteristic (ROC) curve (AUC) (null hypothesis: AUC ≤ 0.5; alternative hypothesis: AUC > 0.5). Materials and Methods: This retrospective study included 84 patients with histologically confirmed TGCT (54 L-TGCT, 30 D-TGCT) who underwent preoperative MRI between January 2005 and December 2024. Tumor segmentation was manually performed on T2-weighted (T2WI) and contrast-enhanced T1-weighted images. After standardized preprocessing, 1691 radiomic features were extracted, and feature selection was performed using minimum redundancy maximum relevance. Multivariate logistic regression (MLR) and random forest (RF) classifiers were developed using a training cohort (n = 52) and tested in an independent test cohort (n = 32). Model performance was assessed AUC, sensitivity, specificity, and accuracy. Results: In the training set, D-TGCT prevalence was 32.6%; in the test set, it was 40.6%. The MLR model used three T2WI features: wavelet-LHL_glszm_GrayLevelNonUniformity, wavelet-HLL_gldm_LowGrayLevelEmphasis, and square_firstorder_Median. Training performance was high (AUC 0.94; sensitivity 75.0%; specificity 90.9%; accuracy 85.7%) but dropped in testing (AUC 0.60; sensitivity 62.5%; specificity 60.6%; accuracy 61.2%). The RF classifier demonstrated more stable performance [(training) AUC 0.85; sensitivity 43.8%; specificity 87.9%; accuracy 73.5% and (test) AUC 0.73; sensitivity 56.2%; specificity 72.7%; accuracy 67.3%]. Conclusions: Radiomics-based MRI models may help predict D-TGCT. While the MLR model overfitted, the RF classifier demonstrated relatively greater robustness and generalizability, suggesting that it may support clinical decision-making for D-TGCT in the future. Full article
(This article belongs to the Special Issue Innovative Diagnostic Imaging Technology in Musculoskeletal Tumors)
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17 pages, 245 KB  
Article
Novel Blood Collection Tubes Improve Sample Preservation in a Multicenter Study in Thailand
by Khundow Moonla, Renu Wiriyaprasit, Napaporn Apiratmateekul, Nam K. Tran and Wanvisa Treebuphachatsakul
Diagnostics 2025, 15(18), 2398; https://doi.org/10.3390/diagnostics15182398 - 20 Sep 2025
Viewed by 182
Abstract
Background: Blood collection tubes (BCTs) are critical in vitro diagnostic devices used in clinical laboratory testing. Innomed tubes are novel BCTs coated with heparin and anti-glycolytic agents (Innomed 1) and clot activators combined with anti-glycolytic agents (Innomed 2). This study, we focus [...] Read more.
Background: Blood collection tubes (BCTs) are critical in vitro diagnostic devices used in clinical laboratory testing. Innomed tubes are novel BCTs coated with heparin and anti-glycolytic agents (Innomed 1) and clot activators combined with anti-glycolytic agents (Innomed 2). This study, we focus on the verification and multicenter validation of Innomed tubes, aiming to assess their performance in glucose stability, hemolysis resistance, and biochemical interferences relevant to diabetes and non-communicable disease (NCD) monitoring. Methods: Two types of Innomed tubes were evaluated. The verification process, conducted in a reference laboratory, assessed biochemical interferences, glucose stability, and the potential for hemolysis due to centrifugation and blood collection techniques. The multicenter validation of biochemical interferences was carried out across five hospital laboratories. Subsequently, samples were centrifuged at 3500 rpm for 5–10 min and analyzed immediately after separation, not exceeding 2 h from collection. Results: Glucose levels in Innomed 1 and 2 remained stable within 8% of up to 8 h post-collection. No hemolysis was observed under varying centrifugation times (at 3500 rpm) and blood collection techniques, as confirmed through visual inspection and lactate dehydrogenase level determinations. Innomed tubes were suitable BCTs for glucose, HbA1c, thyroid stimulating hormone, free triiodothyronine, free thyroxin, triiodothyronine, carcinoembryonic antigen, and prostate-specific antigen, as well as for 19 routine biochemical assays. Conclusions: Innomed 1 and 2 BCTs maintain blood glucose stability for 8 h, ensuring accurate biochemical, HbA1c, thyroid, and tumor marker testing. Their hemolysis resistance supports diabetes screening and Non-Communicable Diseases (NCD) monitoring. thereby emphasizing their clinical relevance in chronic disease management. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
11 pages, 313 KB  
Opinion
The Warm Phase of CRPS Type-1: Is It Time to Review the Budapest Criteria?
by Gianantonio Saviola, Sergio Rosini, Luigi Molfetta, Luca Dalle Carbonare, Nazzarena Malavolta, Nunzia Di Meglio, Maria Antonietta Mazzei, Maurizio Muratore and Bruno Frediani
Diagnostics 2025, 15(18), 2397; https://doi.org/10.3390/diagnostics15182397 - 20 Sep 2025
Viewed by 254
Abstract
Complex Regional Pain Syndrome (CRPS) type 1 is a painful and disabling localized syndrome with a pathogenesis that is still unclear. The last revised diagnostic criteria for CRPS-1 syndrome were developed in 2012 (the so-called Budapest criteria), based only on clinical features, while [...] Read more.
Complex Regional Pain Syndrome (CRPS) type 1 is a painful and disabling localized syndrome with a pathogenesis that is still unclear. The last revised diagnostic criteria for CRPS-1 syndrome were developed in 2012 (the so-called Budapest criteria), based only on clinical features, while the presence of bone marrow edema (BME) and the response to treatments were completely absent. As BME is usually present on magnetic resonance imaging (MRI) in the early (“warm”) phase of CRPS-1, this criterion should be added as a necessary criterion to Budapest criteria. In addition, hyperalgesia and/or allodynia are also commonly present in the warm phase. Therefore, both of these symptoms should be included as essential criteria. Furthermore, the response to bisphosphonates may be another important parameter to add to the list of treatment options, as well as hyperbaric oxygen therapy. Finally, it must be clear that BME is not an exclusive finding of CRPS-1. Therefore, a correct clinical history and, if needed, further radiological studies and laboratory tests should be performed to avoid a false diagnosis. In this paper, the “Bone Marrow Edema Diagnosis and Therapeutic Treatment” Italian Group (GEODEIT) proposes a revision of Budapest’s criteria to make them more meaningful and effective in reaching a correct and quick diagnosis of the disease. Full article
(This article belongs to the Special Issue Advances in Musculoskeletal Imaging: From Diagnosis to Treatment)
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4 pages, 1182 KB  
Interesting Images
Incidental Finding of Unilateral Tensor Fascia Lata Agenesis in a Marathon Runner: An Unreported Phenomenon
by Tommaso Bellini, Claudio Bruno and Giacomo Brisca
Diagnostics 2025, 15(18), 2396; https://doi.org/10.3390/diagnostics15182396 - 20 Sep 2025
Viewed by 164
Abstract
Congenital agenesis of the tensor fascia lata (TFL) muscle is an extremely rare anomaly, with very few reports in the literature and unclear clinical significance. We report the incidental finding of unilateral TFL agenesis in a 25-year-old male physician who had been enrolled [...] Read more.
Congenital agenesis of the tensor fascia lata (TFL) muscle is an extremely rare anomaly, with very few reports in the literature and unclear clinical significance. We report the incidental finding of unilateral TFL agenesis in a 25-year-old male physician who had been enrolled as a healthy control in a muscle MRI study on genetic myopathies. Imaging demonstrated a complete absence of the right TFL with mild compensatory hypertrophy of the ipsilateral rectus femoris, while the contralateral side and all other muscles appeared normal. The subject had no history of neuromuscular disease, exhibited only a subtle waddling gait, and had previously completed the New York Marathon in 4 h and 16 min without symptoms. Laboratory tests, including creatine kinase, were within normal limits. Thirteen years later, he remains in good health, continues regular sports activities, and has not developed pain or functional impairment. This case emphasizes that TFL agenesis may remain clinically silent and compatible with high levels of physical activity. Nevertheless, awareness of such anomalies is important, as compensatory mechanisms might predispose to long-term biomechanical imbalance, and recognition on imaging can prevent misinterpretation or unnecessary investigations Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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9 pages, 1982 KB  
Case Report
Diagnostic and Therapeutic Challenges in Pseudoangiomatous Stromal Hyperplasia (PASH) of the Breast in a 14-Year-Old Girl: A Case-Based Review
by Patrycja Sosnowska-Sienkiewicz, Przemysław Mańkowski and Danuta Januszkiewicz-Lewandowska
Diagnostics 2025, 15(18), 2395; https://doi.org/10.3390/diagnostics15182395 - 20 Sep 2025
Viewed by 236
Abstract
Introduction: Pseudoangiomatous stromal hyperplasia (PASH) is a benign breast lesion characterized by stromal myofibroblast proliferation forming slit-like pseudoangiomatous spaces. Although most frequently diagnosed in premenopausal women, it has also been reported in adolescent girls, where it may present as a rapidly enlarging mass [...] Read more.
Introduction: Pseudoangiomatous stromal hyperplasia (PASH) is a benign breast lesion characterized by stromal myofibroblast proliferation forming slit-like pseudoangiomatous spaces. Although most frequently diagnosed in premenopausal women, it has also been reported in adolescent girls, where it may present as a rapidly enlarging mass that mimics fibroadenoma or phyllodes tumor. The pathogenesis is thought to be hormonally influenced, particularly by progesterone, with a possible role for estrogen. Case Report: We report the case of a 14-year-old girl who presented with a painless, rapidly growing mass in the left breast, first noticed approximately six months earlier. Clinical examination revealed a mobile lesion about 10 cm in diameter without skin changes, lymphadenopathy, or nipple discharge. Ultrasound and MRI demonstrated a large, well-circumscribed solid tumor (10.4 × 11.2 × 4.2 cm3) displacing normal breast tissue but without infiltration; both were classified as BI-RADS 4. Given the tumor size, diagnostic uncertainty, and potential risk of a non-representative core needle biopsy, a decision was made to proceed with primary radical excision. The mass was completely removed with preservation of the glandular tissue. Histopathology confirmed PASH, described macroscopically as a solid, gray–yellow, encapsulated tumor and microscopically as slit-like spaces lined by spindle cells (CD34+, CD31–). Postoperatively, the breast gradually regained symmetry with the contralateral side, and at 14 months of follow-up, no recurrence was observed. Conclusions: PASH, although benign, may present as a large breast tumor in adolescents and clinically mimic both benign and malignant lesions. Histological evaluation based on an adequately performed biopsy is crucial for accurate diagnosis. Complete excision with capsule preservation is recommended to minimize the risk of recurrence. In adolescents, a watchful waiting approach after surgery may be beneficial, as breast tissue often remodels and regains symmetry spontaneously, reducing the need for reconstructive procedures. This case underscores the importance of individualized diagnostic and therapeutic strategies in managing rare benign breast lesions in pediatric patients. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 997 KB  
Systematic Review
Macular Choroidal Thickness in Keratoconus: Systematic Review and Meta-Analysis of Current Evidence
by Dimitrios Kazantzis, Genovefa Machairoudia, Panagiotis Theodossiadis and Irini Chatziralli
Diagnostics 2025, 15(18), 2394; https://doi.org/10.3390/diagnostics15182394 - 19 Sep 2025
Viewed by 166
Abstract
Background/Objectives: This study aimed to investigate changes and synthesize the existing evidence in macular choroidal thickness in patients with keratoconus (KC) compared to healthy controls, utilizing optical coherence tomography (OCT). Methods: PubMed and Scopus databases were systematically searched for published articles [...] Read more.
Background/Objectives: This study aimed to investigate changes and synthesize the existing evidence in macular choroidal thickness in patients with keratoconus (KC) compared to healthy controls, utilizing optical coherence tomography (OCT). Methods: PubMed and Scopus databases were systematically searched for published articles comparing choroidal thickness between patients with KC and healthy controls. The Mean Difference (MD) with 95% confidence interval (CI) was computed to compare continuous variables. Our study was registered with PROSPERO with registration ID: CRD42024605227. Revman 5.4 was used for the analysis. Results 10 studies were included in the analysis. Subfoveal choroidal thickness was increased in patients with KC compared to controls. (MD = 43.94, 95% CI = 17.36–70.51, p = 0.001, I2 = 95%). Leave-one-out sensitivity analysis confirmed this finding. Conclusions: Our meta-analysis demonstrated that eyes with keratoconus have significantly increased macular choroidal thickness compared to controls. These findings highlight the need for longitudinal studies stratified by disease severity to clarify the role of choroidal changes in keratoconus progression. Full article
(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management—2nd Edition)
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19 pages, 1189 KB  
Case Report
Anatomy-Guided Microsurgical Resection of a Dominant Frontal Lobe Tumor Without Intraoperative Adjuncts: A Case Report from a Resource-Limited Context
by Matei Șerban, Corneliu Toader and Răzvan-Adrian Covache-Busuioc
Diagnostics 2025, 15(18), 2393; https://doi.org/10.3390/diagnostics15182393 - 19 Sep 2025
Viewed by 230
Abstract
Background: Glioblastoma (GBM), IDH-wildtype, is one of the most aggressive primary brain malignancies, and maximal safe resection is consistently recognized as a significant prognostic factor. Intraoperative adjuncts including functional mapping, neuronavigation, and fluorescence-guidance are not always present in many centers around the world. [...] Read more.
Background: Glioblastoma (GBM), IDH-wildtype, is one of the most aggressive primary brain malignancies, and maximal safe resection is consistently recognized as a significant prognostic factor. Intraoperative adjuncts including functional mapping, neuronavigation, and fluorescence-guidance are not always present in many centers around the world. The aim is not to suggest equivalence to adjunct-assisted resections, but rather to illustrate the feasibility of anatomy-guided surgery in carefully selected cases and to contribute to the broader discussion on safe operative strategies in resource-limited environments. Methods: We present the case of a 54-year-old right-handed male who presented with progressive non-fluent aphasia, seizures, and signs of intracranial hypertension. Pre-operative MRI showed a heterogeneously hyperintense, frontobasal intra-axial mass involving the dominant inferior frontal gyrus, extending toward the corpus callosum and orbitofrontal cortex, and early subfalcine shift. Surgery was performed via a left frontobasal craniotomy, using subpial dissection and cortical–sulcal anatomical landmarks while aiming to preserve eloquent subcortical tracts (frontal aslant tract, superior longitudinal fasciculus). Nueronavigation, functional mapping or fluorescence was not used. We defined our outcomes by the extent of resection, functional preservation, and early radiological stability. Results: The procedure achieved a subtotal-near-total resection (>95% estimated volume) while maintaining functional motor function from prior to surgery and the patient’s baseline expressive aphasia, with no new neurological deficits. Early post-operative CT showed decompression of the resection cavity without hemorrhage or shift. At three months post-operative, CT showed stability of the cavity and resolution of the most perilesional edema with no evidence of recurrence. Clinically, the patient showed gradual improvement in verbal fluency, he remained seizure free, and maintained independence, which allowed for timeliness of the initiation of adjuvant chemoradiotherapy. Conclusions: We intend for the case to illustrate that, in selected dominant frontal GBM, following microsurgical anatomical principles closely may provide a high extent of resection with the preservation of function, even without advanced intraoperative adjuncts. We hope that our experience may support our colleagues who practice in resource-limited settings and contribute to our shared goal of both oncological outcomes and the quality of life of our patients. Full article
(This article belongs to the Special Issue Clinical Anatomy and Diagnosis in 2025)
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22 pages, 1979 KB  
Review
Challenges in the Pediatric Celiac Disease Diagnosis: An Up-to-Date Review
by Alexandra Mpakosi, Christiana Kaliouli-Antonopoulou, Vasileios Cholevas, Stamatios Cholevas, Ioannis Tzouvelekis, Maria Mironidou-Tzouveleki, Alexandra Lianou, Nicoletta Iacovidou, Andreas G. Tsantes and Rozeta Sokou
Diagnostics 2025, 15(18), 2392; https://doi.org/10.3390/diagnostics15182392 - 19 Sep 2025
Viewed by 359
Abstract
Celiac disease (CD) is an autoimmune disorder that affects genetically susceptible individuals, characterized by specific serological and histological features, and is triggered by the consumption of gluten. The current diagnosis is based on the demonstration of intestinal damage in small bowel biopsies, as [...] Read more.
Celiac disease (CD) is an autoimmune disorder that affects genetically susceptible individuals, characterized by specific serological and histological features, and is triggered by the consumption of gluten. The current diagnosis is based on the demonstration of intestinal damage in small bowel biopsies, as well as the serological presence of CD-specific antibodies (usually IgA) against tissue transglutaminase (tTG), deamidated gliadin peptides (DGP), and endomysium (EMA). The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), in the 2020 updated guidelines, states that the diagnosis of CD in children and adolescents can be established without a biopsy if they have IgA tTG2 >10 ULN confirmed by positive IgA endomysial antibodies on two separate blood tests. Challenges, though, arise in serological and clinical diagnosis: in several cases false-positive results are observed. False-negative serological tests may also occur in children < 2 years of age, in patients adhering to a gluten-free diet, in individuals on immunosuppressive therapy, in cases of selective IgA deficiency, and finally due to potential laboratory errors. CD has a wide range of clinical manifestations, either gastrointestinal or extraintestinal. However, CD may be clinically silent and diagnosed through screening. Delayed diagnosis and treatment can lead to serious complications. Therefore, understanding and awareness of these challenges is imperative. Hence, the aim of this review is to highlight the diagnostic challenges of celiac disease in children and adolescents and stress the importance of prompt recognition in order to ensure appropriate management and prevention of complications. Full article
(This article belongs to the Special Issue Pediatric Gastrointestinal Pathology)
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28 pages, 1896 KB  
Article
Using Artificial Intelligence to Develop Clinical Decision Support Systems—The Evolving Road of Personalized Oncologic Therapy
by Elena Chitoran, Vlad Rotaru, Aisa Gelal, Sinziana-Octavia Ionescu, Giuseppe Gullo, Daniela-Cristina Stefan and Laurentiu Simion
Diagnostics 2025, 15(18), 2391; https://doi.org/10.3390/diagnostics15182391 - 19 Sep 2025
Viewed by 309
Abstract
Background/Objectives: The use of artificial intelligence (AI) in oncology has the potential to improve decision making, particularly in managing the risk associated with targeted therapies. This study aimed to develop and validate a machine learning-based clinical decision support system (CDSS) capable of predicting [...] Read more.
Background/Objectives: The use of artificial intelligence (AI) in oncology has the potential to improve decision making, particularly in managing the risk associated with targeted therapies. This study aimed to develop and validate a machine learning-based clinical decision support system (CDSS) capable of predicting complications associated with Bevacizumab or its biosimilars and to translate the resulting predictive model into a clinically applicable tool. Methods: A prospective observational study was conducted on 395 records from patients treated with Bevacizumab or biosimilars for solid tumors. Pretherapeutic variables, such as demographic data, medical history, tumor characteristics and laboratory findings, were retrieved from medical records. Several machine learning models (logistic regression, Random Forest, XGBoost) were trained using 70/30 and 80/20 data splits. Their predictive performances were compared using accuracy, AUC-ROC, sensitivity, specificity, F1-scores and error rate. The best-performing model was used to derive a logistic-based risk score, which was further implemented as an interactive HTML form. Results: The optimized Random Forest model trained on the 80/20 split demonstrated the best balance between accuracy (70.63%), sensitivity (66.67%), specificity (73.85%), and AUC-ROC (0.75). The derived logistic risk score showed good performance (AUC-ROC = 0.720) and calibration. It identified variables, such as age ≥ 65, anemia, elevated urea, leukocytosis, tumor differentiation, and stage, as significant predictors of complications. The final tool provides clinicians with an easy-to-use, offline form that estimates individual risk levels and stratifies patients into low-, intermediate-, or high-risk categories. Conclusions: This study offers a proof of concept for developing AI-supported predictive tools in oncology using real-world data. The resulting logistic risk score and interactive form can assist clinicians in tailoring therapeutic decisions for patients receiving targeted therapies, enhancing the personalization of care without replacing clinical judgment. Full article
(This article belongs to the Special Issue A New Era in Diagnosis: From Biomarkers to Artificial Intelligence)
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14 pages, 1188 KB  
Article
Kinetics of High-Sensitive Cardiac Troponin I in Patients with ST-Segment Elevation Myocardial Infarction and Non-ST Segment Elevation Myocardial Infarction
by Adi Haizler, Ranel Loutati, Louay Taha, Mohammad Karmi, Dana Deeb, Mohammed Manassra, Noam Fink, Pierre Sabouret, Jamal S. Rana, Mamas A. Mamas, Ofir Rabi, Akiva Brin, Amro Moatz, Maayan Shrem, Abed Qadan, Nir Levi, Michael Glikson, Elad Asher and on behalf of the Jerusalem Platelets Thrombosis and Intervention in Cardiology (JUPITER-26) Study Group
Diagnostics 2025, 15(18), 2390; https://doi.org/10.3390/diagnostics15182390 - 19 Sep 2025
Viewed by 310
Abstract
Background/Objectives: Existing data regarding the kinetics of cardiac troponin I (cTnI) are limited. The aim of the current study was to evaluate the kinetics of highly sensitive (hs) cTnI following acute myocardial infarction (MI) in a large-scale, real-world cohort. Methods: A prospective observational [...] Read more.
Background/Objectives: Existing data regarding the kinetics of cardiac troponin I (cTnI) are limited. The aim of the current study was to evaluate the kinetics of highly sensitive (hs) cTnI following acute myocardial infarction (MI) in a large-scale, real-world cohort. Methods: A prospective observational cohort study included all consecutive patients admitted to the intensive cardiovascular care unit (ICCU) with ST-segment elevation MI (STEMI) and non-ST-segment elevation MI (NSTEMI) who underwent percutaneous coronary intervention (PCI) between January 2020 and April 2024. Hs-cTnI concentrations were measured at the time of presentation and daily thereafter. Results: A total of 1174 STEMI patients [191 females (16.3%)] with a mean age of 63 years and 767 NSTEMI patients [137 females (17.9%)] with a mean age of 66.7 years were enrolled. The average hs-cTnI peak levels were 77,937.99 ng/L and 24,804.73 ng/L for STEMI and NSTEMI patients, respectively. A single peak of hs-cTnI was observed in 83% and 78% of STEMI and NSTEMI patients, respectively, while two peaks were observed in 11% and 19% and three or more peaks were observed in 6% and 3% of STEMI and NSTEMI patients, respectively. A higher number of peaks was associated with a lower ejection fraction and more in-hospital complications. Additionally, a higher number of peaks correlated with a higher in-hospital mortality rate among NSTEMI patients. Conclusions: Most STEMI and NSTEMI patients displayed a monophasic kinetic pattern of hs-cTnI peak levels. However, a greater number of hs-cTnI peaks was linked to a higher incidence of clinical complications, lower ejection fraction, and increased mortality. Full article
(This article belongs to the Special Issue Diagnosis and Management in Cardiac Intensive Care Medicine)
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14 pages, 1127 KB  
Article
Dental Age Estimation from Panoramic Radiographs: A Comparison of Orthodontist and ChatGPT-4 Evaluations Using the London Atlas, Nolla, and Haavikko Methods
by Derya Dursun and Rumeysa Bilici Geçer
Diagnostics 2025, 15(18), 2389; https://doi.org/10.3390/diagnostics15182389 - 19 Sep 2025
Viewed by 221
Abstract
Background: Dental age (DA) estimation, which is widely used in orthodontics, pediatric dentistry, and forensic dentistry, predicts chronological age (CA) by assessing tooth development and maturation. Most methods rely on radiographic evaluation of tooth mineralization and eruption stages to assess DA. With the [...] Read more.
Background: Dental age (DA) estimation, which is widely used in orthodontics, pediatric dentistry, and forensic dentistry, predicts chronological age (CA) by assessing tooth development and maturation. Most methods rely on radiographic evaluation of tooth mineralization and eruption stages to assess DA. With the increasing adoption of large language models (LLMs) in medical sciences, use of ChatGPT has extended to processing visual data. The aim of this study, therefore, was to evaluate the performance of ChatGPT-4 in estimating DA from panoramic radiographs using three conventional methods (Nolla, Haavikko, and London Atlas) and to compare its accuracy against both orthodontist assessments and CA. Methods: In this retrospective study, panoramic radiographs of 511 Turkish children aged 6–17 years were assessed. DA was estimated using the Nolla, Haavikko, and London Atlas methods by both orthodontists and ChatGPT-4. The DA–CA difference and mean absolute error (MAE) were calculated, and statistical comparisons were performed to assess accuracy and sex differences and reach an agreement between the evaluators, with significance set at p < 0.05. Results: The mean CA of the study population was 12.37 ± 2.95 years (boys: 12.39 ± 2.94; girls: 12.35 ± 2.96). Using the London Atlas method, the orthodontists overestimated CA with a DA–CA difference of 0.78 ± 1.26 years (p < 0.001), whereas ChatGPT-4 showed no significant DA–CA difference (0.03 ± 0.93; p = 0.399). Using the Nolla method, the orthodontist showed no significant DA–CA difference (0.03 ± 1.14; p = 0.606), but ChatGPT-4 underestimated CA with a DA–CA difference of −0.40 ± 1.96 years (p < 0.001). Using the Haavikko method, the evaluators underestimated CA (orthodontist: −0.88; ChatGPT-4: −1.18; p < 0.001). The lowest MAE for ChatGPT-4 was obtained when using the London Atlas method (0.59 ± 0.72), followed by Nolla (1.33 ± 1.28) and Haavikko (1.51 ± 1.41). For the orthodontists, the lowest MAE was achieved when using the Nolla method (0.86 ± 0.75). Agreement between the orthodontists and ChatGPT-4 was highest when using the London Atlas method (ICC = 0.944, r = 0.905). Conclusions: ChatGPT-4 showed the highest accuracy with the London Atlas method, with no significant difference from CA for either sex or the lowest prediction error. When using the Nolla and Haavikko methods, both ChatGPT-4 and the orthodontist tended to underestimate age, with higher errors. Overall, ChatGPT-4 performed best when using visually guided methods and was less accurate when using multi-stage scoring methods. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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18 pages, 1551 KB  
Review
Electroencephalography-Based Machine Learning for Biomarker Detection in Dyslexia and Autism Spectrum Disorder: A Comparative Review of Models, Features, and Diagnostic Utility
by Günet Eroğlu
Diagnostics 2025, 15(18), 2388; https://doi.org/10.3390/diagnostics15182388 - 19 Sep 2025
Viewed by 299
Abstract
To uncover neurobiological indicators related to autism spectrum disorders and developmental dyslexia, this article gives a full overview of the most recent advances in machine learning and deep learning methods based on electroencephalography. We look into methodological pipelines that include signal gathering, preprocessing, [...] Read more.
To uncover neurobiological indicators related to autism spectrum disorders and developmental dyslexia, this article gives a full overview of the most recent advances in machine learning and deep learning methods based on electroencephalography. We look into methodological pipelines that include signal gathering, preprocessing, feature engineering, model selection, and interpretability procedures. We based these pipelines on 15 peer-reviewed research papers published between 2013 and 2025. Most of the research employed the 10–20 system for resting-state EEG and followed MATLAB, MNE-Python, or EEGLAB guidelines for preprocessing. The feature sets included spectral power, functional connectivity, task-evoked potentials, and entropy measures. People used many standard ML methods, such as support vector machines and random forests, as well as more advanced models, like deep neural networks and transformer-based architectures. Several studies found that both dyslexic and ASD groups did well at classifying, with accuracy scores between 82% and 99.2%. The new models could be used in therapeutic settings, but there are still problems with how easy they are to understand and how well they apply to a wide range of situations. This is especially true for ASD because its spectrum is so varied. Full article
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17 pages, 1032 KB  
Article
Colorectal Cancer—One Disease, Two Fires: Distinct Inflammatory Landscapes in Colon and Rectal Cancer
by Catalin Vladut Ionut Feier, Florin Grama, Georgiana Viorica Moise, Razvan Constantin Vonica, Vasile Gaborean, Alaviana Monique Faur, Vladut Iosif Rus and Calin Muntean
Diagnostics 2025, 15(18), 2387; https://doi.org/10.3390/diagnostics15182387 - 19 Sep 2025
Viewed by 248
Abstract
Background: Systemic inflammatory indices are increasingly used to predict prognosis in colorectal cancer (CRC), yet direct comparisons between colon cancer (CC) and rectal cancer (RC) remain limited. Methods: We conducted a retrospective matched-cohort study including 296 patients (148 with CC and 148 with [...] Read more.
Background: Systemic inflammatory indices are increasingly used to predict prognosis in colorectal cancer (CRC), yet direct comparisons between colon cancer (CC) and rectal cancer (RC) remain limited. Methods: We conducted a retrospective matched-cohort study including 296 patients (148 with CC and 148 with RC) surgically treated between January 2018 and December 2024. Patients were matched by tumor stage, sex, and age (±3 years). Preoperative blood samples were used to calculate several inflammatory markers, including Neutrophil-to-Lymphocyte Ratio (NLR), Platelet-to-Lymphocyte Ratio (PLR), Monocyte-to-Lymphocyte Ratio (MLR), Systemic Inflammation Response Index (SIRI), Systemic Immune-Inflammation Index (SII), and Aggregate Index of Systemic Inflammation (AISI). Subgroup analyses were performed based on the Charlson Comorbidity Index (>3 vs. ≤3), surgical context (elective vs. emergency), and tumor stage (T1–T2 vs. T3–T4). Results: Colon cancer patients exhibited significantly higher levels of systemic inflammation compared to those with rectal cancer, with notable differences in NLR (3.99 vs. 2.84, p < 0.001), PLR (219.8 vs. 163.3, p < 0.001), SIRI (3.7 vs. 1.91, p = 0.004), SII (1533.8 vs. 847.8, p < 0.001), and AISI (1714.7 vs. 593.6, p = 0.009). These differences remained statistically significant in key subgroups. In elective surgeries, CC patients had elevated PLR (p < 0.001), SIRI (p = 0.003), SII (p < 0.001), and AISI (p = 0.013). Among patients with advanced tumors (T3–T4), CC was associated with higher SII (p < 0.001), AISI (p = 0.008), PLR (p < 0.001), and SIRI (p = 0.004). For those with a Charlson index > 3, CC patients showed significantly higher PLR (p < 0.001), NLR (p < 0.001) and SIRI (p = 0.001). Conclusions: colon cancer presents with a markedly stronger systemic inflammatory response than rectal cancer, particularly in patients with advanced disease, elective surgical treatment, and higher comorbidity burden. These findings suggest that indices such as SIRI, SII, and PLR may serve as valuable stratification tools beyond tumor location in CRC. Full article
(This article belongs to the Special Issue Diagnosis and Management of Colorectal Lesions)
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15 pages, 2862 KB  
Article
Deep Learning-Based Prediction Model of Surgical Indication of Nasal Bone Fracture Using Waters’ View
by Dong Yun Lee, Soo A Lim and Su Rak Eo
Diagnostics 2025, 15(18), 2386; https://doi.org/10.3390/diagnostics15182386 - 19 Sep 2025
Viewed by 225
Abstract
Background/Objectives: The nasal bone is critical to both the functional integrity and esthetic contour of the facial skeleton. Nasal bone fractures constitute the most prevalent facial fracture presentation in emergency departments. The identification of these fractures and the determination of immediate intervention requirements [...] Read more.
Background/Objectives: The nasal bone is critical to both the functional integrity and esthetic contour of the facial skeleton. Nasal bone fractures constitute the most prevalent facial fracture presentation in emergency departments. The identification of these fractures and the determination of immediate intervention requirements pose significant challenges for inexperienced residents, potentially leading to oversight. Methods: A retrospective analysis was conducted on facial trauma patients undergoing cranial radiography (Waters’ view) during initial emergency department assessment between March 2008 and July 2022. This study incorporated 2099 radiographic images. Surgical indications comprised the displacement angle, interosseous gap size, soft tissue swelling thickness, and subcutaneous emphysema. A deep learning-based artificial intelligence (AI) algorithm was designed, trained, and validated for fracture detection on radiographic images. Model performance was quantified through accuracy, precision, recall, and F1 score. Hyperparameters included the batch size (20), epochs (70), 50-layer network architecture, Adam optimizer, and initial learning rate (0.001). Results: The deep learning AI model employing segmentation labeling demonstrated 97.68% accuracy, 82.2% precision, 88.9% recall, and an 85.4% F1 score in nasal bone fracture identification. These outcomes informed the development of a predictive algorithm for guiding conservative versus surgical management decisions. Conclusions: The proposed AI-driven algorithm and criteria exhibit high diagnostic accuracy and operational efficiency in both detecting nasal bone fractures and predicting surgical indications, establishing its utility as a clinical decision-support tool in emergency settings. Full article
(This article belongs to the Special Issue Advances in Plastic Surgery: Diagnosis, Management and Prognosis)
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24 pages, 4385 KB  
Review
Clinical Applications of Anterior Segment Optical Coherence Tomography in Managing Phakic and Secondary Intraocular Lens Implants: A Comprehensive Review
by José Ignacio Fernández-Vigo, Bárbara Burgos-Blasco, Lucía De-Pablo-Gómez-de-Liaño, Ignacio Almorín-Fernández-Vigo, Pedro Arriola-Villalobos, Diego Ruiz-Casas, Ana Macarro-Merino and José Ángel Fernández-Vigo
Diagnostics 2025, 15(18), 2385; https://doi.org/10.3390/diagnostics15182385 - 19 Sep 2025
Viewed by 267
Abstract
Anterior segment optical coherence tomography (AS-OCT) has emerged as a crucial imaging technique in ophthalmology, particularly for evaluating intraocular structures and the behavior of phakic and secondary intraocular lenses (IOLs). This narrative review summarizes the latest findings and clinical applications of OCT regarding [...] Read more.
Anterior segment optical coherence tomography (AS-OCT) has emerged as a crucial imaging technique in ophthalmology, particularly for evaluating intraocular structures and the behavior of phakic and secondary intraocular lenses (IOLs). This narrative review summarizes the latest findings and clinical applications of OCT regarding phakic and secondary IOLs, focusing on their effectiveness, safety, and factors influencing performance. Through a comprehensive analysis of current literature, we explore how OCT facilitates the assessment of IOLs on key anatomical parameters—such as vault, angle configuration, lens centration, tilt, and haptic positioning—essential for optimizing surgical outcomes and minimizing postoperative complications. In phakic IOLs, including posterior chamber lenses such as the Implantable Collamer Lens (ICL, STAAR Surgical, Monrovia, CA, USA) and iris-fixated lenses, such as Artiflex (Ophtec BV, Groningen, The Netherlands), OCT enables precise evaluation of the anterior segment, aiding both candidate selection and long-term monitoring. In secondary implants for aphakia—especially iris-fixated lenses like Artisan (Ophtec BV, Groningen, The Netherlands) and sutureless scleral-fixated lenses such as the Carlevale IOL (Soleko, Rome, Italy)—or those implanted via the Yamane technique, OCT provides high-resolution visualization of haptic fixation, IOL stability, and potential complications, including tilt or decentration. This review also highlights comparative insights between fixation techniques, underscores the need for standardized OCT protocols, and discusses the integration of artificial intelligence tools. In summary, the routine use of OCT in the preoperative and postoperative management of phakic and secondary IOLs has been increasingly incorporated into clinical practice, as it enhances clinical decision-making and improves patient outcomes. Full article
(This article belongs to the Section Biomedical Optics)
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