Diagnostics

17 pages, 668 KiB

Open AccessArticle

AI in Fracture Detection: A Cross-Disciplinary Analysis of Physician Acceptance Using the UTAUT Model

by Martin Breitwieser, Stephan Zirknitzer, Karolina Poslusny, Thomas Freude, Julia Scholsching, Karl Bodenschatz, Anton Wagner, Klaus Hergan, Matthias Schaffert, Roman Metzger and Patrick Marko

Diagnostics 2025, 15(16), 2117; https://doi.org/10.3390/diagnostics15162117 - 21 Aug 2025

Abstract

Background/Objectives: Artificial intelligence (AI) tools for fracture detection in radiographs are increasingly approved for clinical use but remain underutilized. Understanding physician attitudes before implementation is essential for successful integration into emergency care workflows. This study investigates the acceptance of an AI-based fracture [...] Read more.

Background/Objectives: Artificial intelligence (AI) tools for fracture detection in radiographs are increasingly approved for clinical use but remain underutilized. Understanding physician attitudes before implementation is essential for successful integration into emergency care workflows. This study investigates the acceptance of an AI-based fracture detection tool among physicians in emergency care settings, using the Unified Theory of Acceptance and Use of Technology (UTAUT) model. Methods: A cross-sectional, pre-implementation survey was conducted among 92 physicians across three hospitals participating in the SMART Fracture Trial (ClinicalTrials.gov: NCT06754137). The questionnaire assessed the four core UTAUT constructs—performance expectancy (PE), effort expectancy (EE), social influence (SI), facilitating conditions (FC)—and additional constructs such as attitude toward technology (AT), diagnostic confidence (DC), and workflow efficiency (WE). Responses were collected on a five-point Likert scale. Structural equation modeling (SEM) and confirmatory factor analysis (CFA) were performed to assess predictors of behavioral intention (BI). Results: PE was the strongest predictor of BI (β = 0.5882, p < 0.001), followed by SI (β = 0.391, p < 0.001), FC (β = 0.263, p < 0.001), and EE (β = 0.202, p = 0.001). These constructs explained a substantial proportion of variance in BI. WE received the lowest ratings, while internal consistency for SI and BI was weak. Moderator analyses showed prior AI experience improved EE, whereas more experienced physicians were more skeptical regarding WE and DC. However, none of the moderators significantly influenced BI. Conclusions: Physicians’ intention to use AI fracture detection is primarily influenced by perceived usefulness and ease of use. Implementation strategies should focus on intuitive design, targeted training, and clear communication of clinical benefits. Further research should evaluate post-implementation usage and user satisfaction. Full article

(This article belongs to the Special Issue Information-Driven Computer-Aided Diagnosis and Decision Support System)

8 pages, 358 KiB

Open AccessCommunication

Exploring Laser-Induced Plasma Spectroscopy for Skin Cancer Patients: A Preliminary Study

by Dimitrios Sgouros, Emmanouil Karampinis, Melpomeni Theofili, Georgia Pappa, Panagiotis Theofilis, Sofia Theotokoglou, Anna Syrmali and Alexander Katoulis

Diagnostics 2025, 15(16), 2116; https://doi.org/10.3390/diagnostics15162116 - 21 Aug 2025

Abstract

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, [...] Read more.

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, has recently gained attention for its applications in human tissue assessment. LIPS works by generating a (micro)plasma when a laser interacts with tissue, producing element-specific light emissions that can be analyzed in real time. In this study, we explored the potential of LIPS to differentiate between benign and malignant skin lesions using the Spectra-Scope^® Score (SSS). Our results revealed a clear distinction: benign lesions showed a median SSS of 1.7, while suspicious and malignant lesions had a significantly higher median score of 8.1 (p < 0.001). Receiver operating characteristic (ROC) curve analysis demonstrated strong diagnostic performance, with an area under the curve (AUC) of 0.82 (p < 0.001). The findings of this preliminary study support the high accuracy of LIPS in identifying malignancy and underscore its promise as a non-invasive, real-time diagnostic aid. Integrating SSS into clinical workflows could enhance the early detection of skin cancer and reduce reliance on invasive diagnostic procedures. However, further validation is needed to fully establish its role in routine dermatological practice. Full article

(This article belongs to the Special Issue Noninvasive Diagnosis in Dermatology)

20 pages, 557 KiB

Open AccessReview

Prognostic Role of L1CAM in Endometrial Cancer

by Mousa Mobarki

Diagnostics 2025, 15(16), 2115; https://doi.org/10.3390/diagnostics15162115 - 21 Aug 2025

Abstract

The L1 molecule is a cell adhesion molecule (L1CAM) that was originally implicated in neuronal development. In recent years, studies of several large cohorts of patients with endometrial cancer have revealed that L1CAM acts as a poor prognostic factor, in most cases independent [...] Read more.

The L1 molecule is a cell adhesion molecule (L1CAM) that was originally implicated in neuronal development. In recent years, studies of several large cohorts of patients with endometrial cancer have revealed that L1CAM acts as a poor prognostic factor, in most cases independent of other parameters. It seems to be an important factor, especially in the non-specific molecular profile subgroup (p53 normal expression, MMR proficient, POLE not mutated) of endometrial cancer, and a factor predictive of the response to chemotherapy. This review aims to gather most of the current knowledge regarding this promising prognostic factor. Full article

(This article belongs to the Special Issue Biomarkers of Gynecological Cancers)

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14 pages, 1799 KiB

Open AccessArticle

Genotype Frequency of HLA-B*58:01 and Its Association with Paraclinical Characteristics and PSORS1C1 rs9263726 in Gout Patients

by Hien Thu Nguyen, Ha Thi Bui, Yen Thi Thu Hoang, My Ha Hoang, Manh Duc Ngo, Mai Hoang Nguyen, Thuy Thi Thanh Nguyen, Nhuan Tien Ngo and Quang Viet Nguyen

Diagnostics 2025, 15(16), 2114; https://doi.org/10.3390/diagnostics15162114 - 21 Aug 2025

Abstract

Background/Objectives: The HLA-B*58:01 allele is strongly linked to severe cutaneous adverse reactions (SCARs) during allopurinol treatment, and it has been associated with the A allele of PSORS1C1 rs9263726 (G>A). Paraclinical characteristics of gout are indicative of associated comorbid conditions. This study investigated the [...] Read more.

Background/Objectives: The HLA-B*58:01 allele is strongly linked to severe cutaneous adverse reactions (SCARs) during allopurinol treatment, and it has been associated with the A allele of PSORS1C1 rs9263726 (G>A). Paraclinical characteristics of gout are indicative of associated comorbid conditions. This study investigated the genotype frequency of HLA-B*58:01 and its association with paraclinical characteristics and PSORS1C1 rs9263726 in gout patients from Northeast Vietnam. Methods: A total of 133 unrelated gout patients were randomly recruited by the clinician. BioEdit sequence alignment editor version 7.2.5 software (Raleigh, Raleigh, NC, USA) was used for the analysis of nucleotide sequence data of HLA-B gene alleles from the IPD-IMGT/HLA Database, which showed that the HLA-B*58:01 allele can be distinguished from reference and other alleles by specific nucleotide positions: 387C, 379C, 368A, 355A, and 353T (in exon 3); and 319C, 285G, and 209A (in exon 2). HLA-B*58:01 and PSORS1C1 rs9263726 genotypes were identified using Sanger sequencing of PCR products, analyzed with BioEdit software, and verified using the NCBI dbVar database. Statistical analyses were performed using SPSS version 25.0. Results: Our study revealed a significant age difference between male and female gout patients (p < 0.001). Male gout patients had an average age of 51.44 ± 14.59 years, whereas female gout patients were notably older, with an average age of 70.33 ± 10.64 years. Positive correlations were observed between platelet count, serum creatinine, and uric acid levels (r = 0.174, p = 0.045; r = 0.195, p = 0.025) in male gout patients, while only high-density lipoprotein cholesterol showed a statistically significant negative correlation with uric acid levels (r = −0.885, p = 0.002) in female patients. The HLA-B*58:01 allele frequency among study subjects was 6.02%, with 12.03% being heterozygous individuals (*X/HLA-B*58:01, N = 16). The HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts were significantly higher in male gout patients with the *X/HLA-B*58:01genotype compared to those with the *X/*X genotype (p = 0.018). The A allele frequency of PSORS1C1 rs9263726 was 7.89%, and the heterozygous mutant genotype PSORS1C1 GA had a frequency of 15.79% (N = 21). Among the *X/*58:01 carriers, 4.51% had the GG genotype, and 7.52% had the GA genotype at PSORS1C1 rs9263726. Conclusions: Our study showed that the HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts differed significantly between the *X/HLA-B*58:01 and *X/*X groups in male gout patients. The A allele of PSORS1C1 rs9263726 was not consistently associated with HLA-B*58:01 and was not a reliable marker for its detection in this study population. Full article

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

15 pages, 2493 KiB

Open AccessArticle

The Utility of Intravoxel Incoherent Motion Metrics in Assessing Disability in Relapsing–Remitting Multiple Sclerosis

by Othman I. Alomair, Sami A. Alghamdi, Abdullah H. Abujamea, Salman Aljarallah, Nuha M. Alkhawajah, Mohammed S. Alshuhri, Yazeed I. Alashban and Nyoman D. Kurniawan

Diagnostics 2025, 15(16), 2113; https://doi.org/10.3390/diagnostics15162113 - 21 Aug 2025

Abstract

Background/Objectives: Quantitative intravoxel incoherent motion (IVIM) imaging, incorporating both diffusion- and perfusion-derived metrics, offers a promising non-invasive approach for assessing tissue microstructure and clinical disability in multiple sclerosis (MS). This study aimed to investigate the correlation and predictive values of the IVIM [...] Read more.

Background/Objectives: Quantitative intravoxel incoherent motion (IVIM) imaging, incorporating both diffusion- and perfusion-derived metrics, offers a promising non-invasive approach for assessing tissue microstructure and clinical disability in multiple sclerosis (MS). This study aimed to investigate the correlation and predictive values of the IVIM apparent diffusion coefficient (ADC), true diffusion coefficient (D), and perfusion-derived pseudo-diffusion coefficient (D*) and perfusion fraction (f) parameters with disability status, measured using the Expanded Disability Status Scale (EDSS), in relapsing–remitting MS patients. Methods: This cross-sectional study retrospectively analyzed MRI data from 197 MS patients. Quantitative IVIM parameters were extracted from scans obtained using a 1.5 T MRI scanner. Clinical data were also obtained, including age, disease duration, number of relapses, disease-modifying therapy (DMT) status, and need for mobility assistance. Bivariate analyses were conducted to compare mean values across subgroups. Pearson correlation was used to examine associations between EDSS score and imaging/clinical variables. Multiple linear regression was applied to identify independent predictors of EDSS score. Results: The bivariate analyses revealed that ADC, D, D*, and EDSS values were higher in patients over 50 years old, those with a longer disease duration, and those who required mobility assistance. f was higher in females and DMT-treated patients, but it had no effect on EDSS score. Patients with longer disease duration and limited mobility had a higher number of MS lesions and relapses. EDSS score exhibited positive Pearson correlations with ADC, D, D*, the number of MS lesions, and the number of relapses (p-value < 0.001). In the multivariate regression analysis, only the number of MS lesions and relapses emerged as independent predictors of EDSS score (p-value < 0.001). Other variables, including ADC, D, D*, f, age, and disease duration, were not independently associated with EDSS score (p-value > 0.05). Conclusions: This study demonstrates the utility of IVIM parameters in detecting microstructural alterations associated with MS impairment. Despite relapse frequency and lesion count being the strongest predictors of EDSS score, IVIM metrics showed meaningful clinical correlations. The findings support combining IVIM biomarkers with clinical data for better disability assessment. Full article

(This article belongs to the Special Issue Neurological Diseases: Biomarkers, Diagnosis and Prognosis)

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13 pages, 1423 KiB

Open AccessArticle

Quantifying “Medical Renal Disease”: A Pediatric Pilot Study Using Ultrasound Radiomics for Differentiating Acute Kidney Injury and Chronic Kidney Disease

by Laura De Leon-Benedetti, Laith R. Sultan, Hansel J. Otero, Tatiana Morales-Tisnés, Joya Sims, Kate Fitzpatrick, Julie C. Fitzgerald, Susan Furth, Benjamin L. Laskin and Bernarda Viteri

Diagnostics 2025, 15(16), 2112; https://doi.org/10.3390/diagnostics15162112 - 21 Aug 2025

Abstract

Background: Differentiating acute kidney injury (AKI) from chronic kidney disease (CKD) in children remains a critical unmet need due to the limitations of current clinical and biochemical markers. Conventional ultrasound lacks the sensitivity to discern subtle parenchymal alterations. This study explores the application [...] Read more.

Background: Differentiating acute kidney injury (AKI) from chronic kidney disease (CKD) in children remains a critical unmet need due to the limitations of current clinical and biochemical markers. Conventional ultrasound lacks the sensitivity to discern subtle parenchymal alterations. This study explores the application of ultrasound radiomics—a novel, non-invasive, and quantitative image analysis method—for distinguishing AKI from CKD in pediatric patients. Methods: In this retrospective cross-sectional pilot study, kidney ultrasound images were obtained from 31 pediatric subjects: 8 with oliguric AKI, 14 with CKD, and 9 healthy controls. Renal parenchyma was manually segmented, and 124 advanced texture features were extracted using the open-source ©PyFeats. Features encompassed multiple categories (e.g., GLCM, GLSZM, WP). Statistical comparisons evaluated intergroup differences. Principal Component Analysis identified the top 10 most informative features, which were used to train supervised machine learning models. Model performance used five-fold cross-validation. Results: Radiomic analysis revealed significant intergroup differences (p < 0.05). CKD cases exhibited increased echogenicity and heterogeneity, particularly in GLCM and GLSZM features, consistent with chronic fibrosis. AKI cases displayed more homogeneous texture, likely reflecting edema or acute inflammation. While echogenicity separated diseased from healthy kidneys, it lacked specificity between AKI and CKD. Among ML models, XGBoost achieved the highest macro-averaged F1 score (0.90), followed closely by SVM and Random Forest, demonstrating strong classification performance. Conclusions: Radiomics-based texture analysis of grayscale ultrasound images effectively differentiated AKI from CKD in this pilot study, offering a promising, non-invasive imaging biomarker for pediatric kidney disease. These preliminary findings justify prospective validation in larger, multicenter cohorts. Full article

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

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23 pages, 1469 KiB

Open AccessSystematic Review

Radar-Based Detection of Obstructive Sleep Apnea: A Systematic Review and Network Meta-Analysis of Diagnostic Accuracy Across Frequency Bands

by Nguyen Binh Minh Hoang Tran, Thi Quynh Trang Tran, Cheng-Yu Tsai and Jiunn-Horng Kang

Diagnostics 2025, 15(16), 2111; https://doi.org/10.3390/diagnostics15162111 - 21 Aug 2025

Abstract

Background: Obstructive sleep apnea (OSA) is one of the most prevalent yet underdiagnosed sleep disorders. We evaluated the diagnostic accuracy of radar-based systems and ranked frequency bands for the non-contact detection of OSA. Methods: A systematic search of six databases was [...] Read more.

Background: Obstructive sleep apnea (OSA) is one of the most prevalent yet underdiagnosed sleep disorders. We evaluated the diagnostic accuracy of radar-based systems and ranked frequency bands for the non-contact detection of OSA. Methods: A systematic search of six databases was conducted from inception to May 23, 2025. Eligible studies included adults assessed for OSA using radar-based systems compared to polysomnography. Hierarchical SROC modeling, threshold-based meta-analyses, and frequency band-stratified network meta-analysis were performed. Certainty of evidence was assessed using GRADE. The PROSPERO registration number is CRD420251059236. Results: We identified 23,906 records and included 20 studies involving 1540 participants. The primary outcome included a high area under the curve (AUC) of approximately 0.91, an optimal apnea–hypopnea index (AHI) cutoff of ≥22 with a sensitivity of 0.8155 (95% confidence interval (CI): 0.6862–0.8993) and specificity of 0.8819 (95% CI: 0.7799–0.9402). At an AHI threshold of 30, X-band dual radar performed the best, followed by K-band, which yielded significant but more variable results. C-bands consistently showed lower diagnostic values. Conclusions: This study provides a novel radar band comparison for OSA detection, highlighting clinically relevant thresholds. Key limitations are indirect comparisons and limited, varied samples. Radar-based systems show high sensitivity for OSA detection, optimized by frequency, radar type, artificial intelligence support, and dual sensors within 0.2–1.5 m. Future work should expand the frequency analysis, standardize AHI thresholds, and validate results in specific subgroups. Full article

(This article belongs to the Special Issue Advances in Sleep and Respiratory Medicine)

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16 pages, 1167 KiB

Open AccessArticle

Association of TCF7L2 rs7903146 (C/T) Polymorphism with Type 2 Diabetes Mellitus in a Chinese Population: Clinical Characteristics and Ethnic Context

by Yung-Chuan Lu, Teng-Hung Yu, Chin-Feng Hsuan, Chia-Chang Hsu, Wei-Chin Hung, Chao-Ping Wang, Wei-Hua Tang, Min-Chih Cheng, Fu-Mei Chung, Yau-Jiunn Lee and Thung-Lip Lee

Diagnostics 2025, 15(16), 2110; https://doi.org/10.3390/diagnostics15162110 - 21 Aug 2025

Abstract

Background/Objectives: The transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism has been strongly associated with type 2 diabetes mellitus (T2DM) in various populations; however, its impact on different ethnic groups is not fully understood. Given the distinct minor allele frequency in [...] Read more.

Background/Objectives: The transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism has been strongly associated with type 2 diabetes mellitus (T2DM) in various populations; however, its impact on different ethnic groups is not fully understood. Given the distinct minor allele frequency in Chinese populations, this study aimed to analyze the association of rs7903146 with the risk of T2DM in a Han Chinese cohort and its relationship with relevant clinical parameters. Methods: We conducted a case–control study including 600 patients with type 2 diabetes mellitus (T2DM) and 511 sex-matched non-diabetic controls of Han Chinese descent. The TCF7L2 rs7903146 (C/T) polymorphism was genotyped using a TaqMan™ SNP assay. Clinical parameters, including body mass index (BMI), fasting plasma glucose, hemoglobin A1c, lipid profile, and high-sensitivity C-reactive protein (hs-CRP), were compared between genotypes. Logistic regression analyses were performed under a dominant genetic model (CT/TT vs. CC), adjusting for age, sex, systolic and diastolic blood pressure, BMI, and smoking status. Subgroup analyses were conducted by sex, BMI category, age at diagnosis, and family history of T2DM. Given the exploratory nature of this study and the low frequency of the TT genotype, no formal correction for multiple testing was applied. Results: Frequencies of the CT and TT genotypes were higher in the diabetic group (p = 0.045) and were significantly associated with an increased risk of T2DM under a dominant genetic model (adjusted OR = 2.24, p = 0.025). Individuals with CT/TT genotypes had elevated fasting glucose and hs-CRP levels; these genotypes were also linked to higher BMI in the female T2DM patients. The T allele frequency varied across ethnic groups, being lowest in East Asians and highest in Latin (Brazilian/mixed ancestry) populations. Mechanistically, the T allele may contribute to T2DM via altered TCF7L2 expression, impaired insulin secretion, inflammation, and metabolic dysregulation. Conclusions: The TCF7L2 rs7903146 T allele was associated with an increased risk of T2DM and higher fasting glucose and hs-CRP levels in this Han Chinese cohort. The CT/TT genotypes were also associated with higher BMI in the female T2DM patients. While the findings are consistent with the known effects of this variant in other populations, mechanistic hypotheses such as the involvement of inflammatory or metabolic pathways remain hypothetical and warrant further functional validation. Full article

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

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13 pages, 2979 KiB

Open AccessArticle

Predictive Value of ^99mTc DPD Bone SPECT/CT Uptake Ratio for Culture Results in Lower Limb Osteomyelitis

by Hyun Suk Shin and Min Bom Kim

Diagnostics 2025, 15(16), 2109; https://doi.org/10.3390/diagnostics15162109 - 21 Aug 2025

Abstract

Background/Objectives: The diagnosis of osteomyelitis is typically based on clinical suspI icion supported by imaging and lab findings. Various nuclear medicine imaging, including bone SPECT/CT, is emerging as an effective tool to guide the diagnosis of osteomyelitis. This study investigates whether the [...] Read more.

Background/Objectives: The diagnosis of osteomyelitis is typically based on clinical suspI icion supported by imaging and lab findings. Various nuclear medicine imaging, including bone SPECT/CT, is emerging as an effective tool to guide the diagnosis of osteomyelitis. This study investigates whether the preoperative ^99mTc DPD bone SPECT/CT uptake \ratio correlates with intraoperative tissue culture positivity in patients with suspected lower extremity osteomyelitis. Methods: We retrospectively reviewed 46 patients who underwent surgery for suspected osteomyelitis of the lower extremity between February 2020 and May 2025. Bone SPECT/CT was performed using ^99mTc DPD, and uptake values were measured using Syngo.via software. Lesion-to-Background Ratio (LBR) was calculated by comparing uptake in the lesion with the contralateral bone. Intraoperative culture was conducted at the region with high uptake in SPECT/CT. Results: Among the 46 patients who underwent surgery, 28 had positive tissue cultures, and 18 were negative. The mean LBR was significantly higher in culture-positive cases (14.5 ± 4.5) than in culture-negative cases (6.8 ± 8.0, p = 0.0002) Inflammatory markers (WBC, ANC, ESR, CRP) and the antibiotic-free interval before surgery did not significantly differ between groups or correlate with LBR. ROC analysis identified an LBR threshold of 9.44, yielding a sensitivity of 71.4% and specificity of 88.9% for predicting positive cultures (AUC = 0.81). Conclusions: ^99mTc DPD bone SPECT/CT uptake ratio may serve as a useful tool for the preoperative assessment of suspected lower extremity osteomyelitis, providing a more reliable prediction of intraoperative microbial culture results compared to serum inflammatory markers or the duration of antibiotic-free intervals. High tracer uptake may also be observed in various other conditions and thus should be interpreted in a multidisciplinary context in conjunction with other modalities. Full article

(This article belongs to the Special Issue Diagnostic Imaging in Musculoskeletal Diseases)

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13 pages, 1821 KiB

Open AccessArticle

Thyroid Nodule Characterization: Which Thyroid Imaging Reporting and Data System (TIRADS) Is More Accurate? A Comparison Between Radiologists with Different Experiences and Artificial Intelligence Software

by Emanuele David, Lorenzo Aliotta, Fabrizio Frezza, Marianna Riccio, Alessandro Cannavale, Patrizia Pacini, Chiara Di Bella, Vincenzo Dolcetti, Elena Seri, Luca Giuliani, Mattia Di Segni, Gianmarco Lo Conte, Giacomo Bonito, Antonino Guerrisi, Fabio Mangini, Francesco Maria Drudi, Corrado De Vito and Vito Cantisani

Diagnostics 2025, 15(16), 2108; https://doi.org/10.3390/diagnostics15162108 - 21 Aug 2025

Abstract

Purpose: This study aimed to compare: the performance of K-TIRADS, EU-TIRADS and ACR TIRADS when used by observers with different levels of experience compared with the gold standard of cytology, and to evaluate the diagnostic performance of CAD (computer-aided design) compared with TI-RADS [...] Read more.

Purpose: This study aimed to compare: the performance of K-TIRADS, EU-TIRADS and ACR TIRADS when used by observers with different levels of experience compared with the gold standard of cytology, and to evaluate the diagnostic performance of CAD (computer-aided design) compared with TI-RADS systems. Methods and Materials: In total, 323 thyroid nodules were evaluated in patients who were candidates for needle aspiration. Three observers with different levels of experience evaluated the diagnostic accuracy of three risk stratification systems (ACR TI-RADS, EU-TIRADS and K-TIRADS) and CAD software (S-Detect, made by Samsung) in characterizing the nodules. The results were compared with cytology examination. All nodules were characterized in terms of shape, margins, composition, calcifications, size, echogenicity and microcalcifications, and by stratifying individual nodules by using the three TIRADS systems; then S-detect software was applied and the data were compared with each other and with the gold standard. Results: Through cytology, 308 benign and 33 malignant nodules were identified. ACR-TIRADS showed a sensitivity of 100%, a specificity of 86%, a positive predictive value of 43% and a negative predictive value of 100%. EU-TIRADS showed a sensitivity of 100%, a specificity of 79%, a positive predictive value of 33% and a negative predictive value of 100%. K-TIRADS showed a sensitivity of 100%, a specificity of 89%, a positive predictive value of 50% and a negative predictive value of 100%. S-Detect combined with EU-TIRADS showed a high agreement (>95%) with the gold standard. Conclusions: K-TIRADS’s positive predictive power was slightly better than the other TIRADS, suggesting greater accuracy in correctly diagnosing positive cases. S-DETECT combined with EU-TIRADS has similar results to S-Detect with ACR- and K-TIRADS in terms of sensitivity, specificity and negative predictive power. However, it has a slightly better positive predictive power, suggesting greater accuracy in correctly diagnosing positive cases than the ACR- and K-TIRADS classification systems. In general, S-Detect cannot yet be considered a substitute for the human observer but only as an important support for human evaluation and an excellent and fast help to provide a comprehensive and complete report. Clinical Relevance/Application: S-Detect is a valuable tool for characterizing thyroid nodules when integrated with radiologist evaluation. It is also an important support tool for less experienced observers. Particularly interesting is the approach of use in integrated combination of the K-TIRADS by the human observer with S-Detect using EU-TIRADS, which could increase the overall diagnostic efficiency of the systems. Full article

(This article belongs to the Special Issue Thyroid Cancer: Types, Symptoms, Diagnosis and Management)

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9 pages, 297 KiB

Open AccessArticle

The Relationship Between Peripheral Inflammatory Markers and High-Grade Cervical Lesions: A Retrospective Cohort Study

by Aysun Alci, Necim Yalcin, Mustafa Gokkaya, Gulsum Ekin Sari, Harun Resit Turkmenoglu, Isin Ureyen and Tayfun Toptas

Diagnostics 2025, 15(16), 2107; https://doi.org/10.3390/diagnostics15162107 - 21 Aug 2025

Abstract

Background/Objectives: This study was designed to investigate the relationship between peripheral hematological inflammation markers, namely, neutrophil/lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte/lymphocyte ratio (MLR), systemic immune inflammation index (SII), and systemic inflammatory response index (SIRI) and high-grade cervical lesions (CIN2+). Methods: [...] Read more.

Background/Objectives: This study was designed to investigate the relationship between peripheral hematological inflammation markers, namely, neutrophil/lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte/lymphocyte ratio (MLR), systemic immune inflammation index (SII), and systemic inflammatory response index (SIRI) and high-grade cervical lesions (CIN2+). Methods: A retrospective cohort analysis was conducted on 358 patients who underwent cervical excision procedures. Patients were divided into two groups: <CIN2 and CIN2+. Preoperative complete blood count data were used to calculate the inflammation indices. HPV genotypes were also recorded. Logistic regression and ROC analyses were performed to evaluate the predictive performance. Results: CIN2+ lesions were detected in 69.6% of participants. In the univariate analysis, only age and HPV 16 positivity (p < 0.005) showed a significant association with the presence of CIN2+. NLR, PLR, MLR, SII, and SIRI values did not show significant differences between groups (all p > 0.05). In the multivariate analysis, increasing age was independently associated with a decrease in the risk of CIN2+ (OR = 0.96, 95% CI: 0.94–0.99), while HPV 16 positivity was associated with an increase in risk (OR = 2.44, 95% CI: 1.43–4.18). ROC analysis showed that combining age and HPV 16 status improved the specificity (85.1%) of predicting CIN2+ compared to using age alone (42.2%). Conclusions: Peripheral haematological inflammation markers (NLR, PLR, MLR, SII, and SIRI) did not show predictive value in predicting CIN2+ lesions. However, age and HPV 16 infection were found to be independent predictors. These findings suggest that haematological indices may reflect systemic inflammatory responses but are not sufficient on their own for the detection of CIN2+. HPV genotyping is of critical importance for the early detection of high-grade lesions. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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14 pages, 3012 KiB

Open AccessCase Report

Ultrasound-Guided Hydrodissection with Needle Stabilization: An Innovative Nerve-Sparing Approach to Remove a Contraceptive Implant Causing Ulnar Neuropathy

by Yeui-Seok Seo, HoWon Lee, Jihyo Hwang, Chanwool Park, MinJae Lee, Yonghyun Yoon, HyeMi Yu, Jaeik Choi, Gyungseog Ko, Daniel Chiung-Jui Su, Keneath Dean Reeves, Teinny Suryadi, Anwar Suhaimi and King Hei Stanley Lam

Diagnostics 2025, 15(16), 2106; https://doi.org/10.3390/diagnostics15162106 - 21 Aug 2025

Abstract

Background and Clinical Significance: Non-palpable migrated contraceptive implants pose significant challenges for removal and are associated with neurovascular complications. Traditional open surgery near nerves is associated with postoperative morbidity. Migrated or deeply embedded implants near critical structures can result in severe complications, such [...] Read more.

Background and Clinical Significance: Non-palpable migrated contraceptive implants pose significant challenges for removal and are associated with neurovascular complications. Traditional open surgery near nerves is associated with postoperative morbidity. Migrated or deeply embedded implants near critical structures can result in severe complications, such as neuropathy, and their removal typically requires open surgical intervention. Case Presentation: We report a novel, minimally invasive, ultrasound (US)-guided technique for removing a migrated etonogestrel Implanon^® implant that caused ulnar neuropathy. A 38-year-old woman presented with severe neuropathic pain and paresthesia (NPRS 10/10; QuickDASH 55) along her left ulnar nerve following multiple failed removal attempts that induced deep migration. US confirmed the proximity of the implant to the ulnar nerve. Initial US-guided removal exacerbated her symptoms. Hydrodissection (HD) with 50 mL of 5% dextrose in water (D5W) without local anesthetic (LA) was performed to reduce inflammation and achieve separation. The implant migrated proximally during extraction. An additional HD with 50 mL of D5W without LA distally repositioned the implant. Percutaneous stabilization using a 25-gauge needle enabled secure removal. The intact 4 cm implant was extracted under real-time US guidance without open surgery. The patient experienced immediate symptom relief (NPRS 2/10; QuickDASH 4.5 at one month) and full resolution (NPRS 0/10; QuickDASH 0) with no motor deficits at one year. Conclusions: This case represents the first documented percutaneous removal of a nerve-adherent implant using combined US-guided D5W HD and needle stabilization, marking a paradigm shift in the management of such cases. This approach confirms the safety of US-guided foreign body removal using HD for nerve-adjacent implants and demonstrates the efficacy of combining D5W HD with needle stabilization. Surgical morbidity was avoided, while excellent long-term outcomes were achieved. Full article

(This article belongs to the Special Issue Diagnostics Advances in Peripheral Nerve Injuries)

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15 pages, 1467 KiB

Open AccessArticle

Diagnostic Performance of Salusins in Acute Pulmonary Embolism: A Prospective Observational Study

by Tuğba Sanalp Menekşe, İlker Şirin, Rabia Handan Günsay, Uğurcan Eker, Rasime Pelin Kavak, Yavuz Otal and Canan Topçuoğlu

Diagnostics 2025, 15(16), 2105; https://doi.org/10.3390/diagnostics15162105 - 21 Aug 2025

Abstract

Background/Objectives: This study investigated whether serum salusin-α and salusin-β levels could support the diagnosis and prognosis of confirmed acute pulmonary embolism (APE) cases. Methods: A prospective observational study was conducted including 57 patients diagnosed with APE using computed tomography pulmonary angiography [...] Read more.

Background/Objectives: This study investigated whether serum salusin-α and salusin-β levels could support the diagnosis and prognosis of confirmed acute pulmonary embolism (APE) cases. Methods: A prospective observational study was conducted including 57 patients diagnosed with APE using computed tomography pulmonary angiography (CTPA) and 30 control participants without any acute or chronic disease. APE patients were categorized based on the Pulmonary Artery Obstruction Index (PAOI) into low (≤20) and high (>20) thrombus burden groups. Serum salusin-α and salusin-β levels were measured at diagnosis using an enzyme-linked immunosorbent assay. Associations with PAOI and Pulmonary Embolism Severity Index (PESI) scores were analyzed. Results: Salusin-α and salusin-β levels were markedly reduced in APE patients versus controls (p < 0.001). In multivariate analysis, salusin-α remained independently associated with APE (p = 0.042), whereas salusin-β was not significant. A receiver operating characteristic analysis showed good diagnostic performance for salusin-α (AUC = 0.799; sensitivity = 89.5%; specificity = 46.7%). Neither peptide correlated with PAOI or PESI. At a 305.85 pg/mL cut-off, salusin-α yielded a positive predictive value of 76.1% and a negative predictive value of 70% in this cohort. Conclusions: The findings suggest that salusin-α has high sensitivity in detecting acute pulmonary embolism and may serve as a supportive diagnostic marker in emergency settings. Although its specificity is limited, it could contribute to guiding additional testing. While salusin-β showed no significant diagnostic value, the potential role of salusin peptides in prognostic evaluation requires further exploration. Full article

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

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21 pages, 2657 KiB

Open AccessArticle

AI-Powered Adaptive Disability Prediction and Healthcare Analytics Using Smart Technologies

by Malak Alamri, Mamoona Humayun, Khalid Haseeb, Naveed Abbas and Naeem Ramzan

Diagnostics 2025, 15(16), 2104; https://doi.org/10.3390/diagnostics15162104 - 21 Aug 2025

Abstract

Background: By leveraging advanced wireless technologies, Healthcare Industry 5.0 promotes the continuous monitoring of real-time medical acquisition from the physical environment. These systems help identify early diseases by collecting health records from patients’ bodies promptly using biosensors. The dynamic nature of medical [...] Read more.

Background: By leveraging advanced wireless technologies, Healthcare Industry 5.0 promotes the continuous monitoring of real-time medical acquisition from the physical environment. These systems help identify early diseases by collecting health records from patients’ bodies promptly using biosensors. The dynamic nature of medical devices not only enhances the data analysis in medical services and the prediction of chronic diseases, but also improves remote diagnostics with the latency-aware healthcare system. However, due to scalability and reliability limitations in data processing, most existing healthcare systems pose research challenges in the timely detection of personalized diseases, leading to inconsistent diagnoses, particularly when continuous monitoring is crucial. Methods: This work propose an adaptive and secure framework for disability identification using the Internet of Medical Things (IoMT), integrating edge computing and artificial intelligence. To achieve the shortest response time for medical decisions, the proposed framework explores lightweight edge computing processes that collect physiological and behavioral data using biosensors. Furthermore, it offers a trusted mechanism using decentralized strategies to protect big data analytics from malicious activities and increase authentic access to sensitive medical data. Lastly, it provides personalized healthcare interventions while monitoring healthcare applications using realistic health records, thereby enhancing the system’s ability to identify diseases associated with chronic conditions. Results: The proposed framework is tested using simulations, and the results indicate the high accuracy of the healthcare system in detecting disabilities at the edges, while enhancing the prompt response of the cloud server and guaranteeing the security of medical data through lightweight encryption methods and federated learning techniques. Conclusions: The proposed framework offers a secure and efficient solution for identifying disabilities in healthcare systems by leveraging IoMT, edge computing, and AI. It addresses critical challenges in real-time disease monitoring, enhancing diagnostic accuracy and ensuring the protection of sensitive medical data. Full article

(This article belongs to the Special Issue AI-Powered Solutions for Personalized Healthcare Monitoring with Wearables)

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17 pages, 1543 KiB

Open AccessArticle

Foveal Avascular Zone Enlargement as a Risk Factor for Early Retinal Ganglion Cell Dysfunction in Glaucoma Suspects

by Andrew Tirsi, Kashviya Suri, Samuel Potash, Joby Tsai, Danielle Kacaj, Vasiliki Gliagias, Nicholas Leung, Timothy Foster, Rushil Kumbhani, Derek Orshan, Daniel Zhu and Celso Tello

Diagnostics 2025, 15(16), 2103; https://doi.org/10.3390/diagnostics15162103 - 21 Aug 2025

Abstract

Background/Objectives: The aim of this study was to evaluate the relationship between foveal avascular zone (FAZ) enlargement, retinal ganglion cell (RGC) dysfunction, and structural retinal measurements in glaucoma suspects (GS), using pattern electroretinogram (PERG) and optical coherence tomography angiography (OCTA) parameters. Methods: Thirty-one [...] Read more.

Background/Objectives: The aim of this study was to evaluate the relationship between foveal avascular zone (FAZ) enlargement, retinal ganglion cell (RGC) dysfunction, and structural retinal measurements in glaucoma suspects (GS), using pattern electroretinogram (PERG) and optical coherence tomography angiography (OCTA) parameters. Methods: Thirty-one eyes (20 subjects) of GS status underwent comprehensive ophthalmologic evaluation including steady-state PERG, optical coherence tomography (OCT), and OCTA. FAZ area was measured using ImageJ software (version 1.54p), and PERG parameters (Magnitude, MagnitudeD, and MagnitudeD/Magnitude ratio) were analyzed. Partial correlation analyses were performed to assess associations between FAZ area, PERG parameters, and structural metrics including retinal nerve fiber layer (RNFL), ganglion cell layer–inner plexiform layer (GCL + IPL), and macular thickness. Results: After controlling for age, sex, central corneal thickness (CCT), intraocular pressure (IOP), and spherical equivalent, partial correlation analysis showed that FAZ area was significantly associated with both lower Magnitude (r < −0.503, p < 0.05) and MagnitudeD (r < −0.507, p < 0.05) values. PERG parameters were significantly correlated with superior and average RNFL thickness, as well as superior and superior temporal GCL + IPL thickness. FAZ area was significantly associated with multiple GCL + IPL and macular thickness sectors, but not with RNFL thickness. Conclusions: FAZ enlargement is significantly associated with RGC dysfunction and inner retinal layer thinning in GS. Full article

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

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13 pages, 1771 KiB

Open AccessArticle

Evaluation of Nailfold Capillaroscopic Findings in Pediatric Patients with Celiac Disease: A Cross-Sectional and Comparative Study

by Gül Çirkin and Raziye Burcu Taskin

Diagnostics 2025, 15(16), 2102; https://doi.org/10.3390/diagnostics15162102 - 21 Aug 2025

Abstract

Background/Objectives: Celiac disease (CD) is a chronic autoimmune enteropathy with increasing recognition of systemic involvement, including potential microvascular alterations. While nailfold videocapillaroscopy (NVC) is an established tool in rheumatology for assessing microcirculation, its application in pediatric CD remains unexplored. Our aim was to [...] Read more.

Background/Objectives: Celiac disease (CD) is a chronic autoimmune enteropathy with increasing recognition of systemic involvement, including potential microvascular alterations. While nailfold videocapillaroscopy (NVC) is an established tool in rheumatology for assessing microcirculation, its application in pediatric CD remains unexplored. Our aim was to investigate capillaroscopic abnormalities in children with CD and assess their associations with clinical and laboratory parameters, including dietary adherence. Methods: This cross-sectional study included 76 pediatric CD patients and 76 age- and sex-matched healthy controls. All participants underwent standardized NVC evaluation, assessing capillary density, dilatation, morphology, and microhemorrhages. Clinical data, laboratory values, and dietary adherence (based on clinical symptoms and tissue transglutaminase-IgA levels) were recorded. Results: Compared to controls, CD patients exhibited significantly lower capillary density and increased frequencies of dilated capillaries, microhemorrhages, and abnormal morphologies (p < 0.001). A nonspecific NVC pattern predominated among CD patients. Capillary abnormalities were more pronounced in patients without tTG-IgA normalization (>10 U/mL) and with symptoms suggestive of gluten exposure. Additionally, the number of dilated capillaries positively correlated with age and disease duration. No significant differences were found based on ANA status. Conclusions: This is the first study to demonstrate NVC-detectable microvascular alterations in pediatric CD. Findings suggest subclinical microvascular involvement, which may be potentially modifiable through dietary adherence. NVC may serve as a non-invasive tool to detect early vascular changes and monitor systemic manifestations in pediatric CD. Longitudinal studies are warranted to clarify the reversibility and prognostic implications of these abnormalities. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)

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15 pages, 637 KiB

Open AccessReview

Intraglomerular Inflammation as a Guide for Mycophenolate Mofetil-Based Treatment in IgA Nephropathy

by Christodoulos Keskinis, Panagiotis Pateinakis and Maria Stangou

Diagnostics 2025, 15(16), 2101; https://doi.org/10.3390/diagnostics15162101 - 20 Aug 2025

Abstract

IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with a heterogeneous clinical course that may progress to end-stage kidney disease (ESKD) in approximately 20% of patients. Despite recent advances, including the U.S. Food and Drug Administration (FDA) approval of three novel [...] Read more.

IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with a heterogeneous clinical course that may progress to end-stage kidney disease (ESKD) in approximately 20% of patients. Despite recent advances, including the U.S. Food and Drug Administration (FDA) approval of three novel agents, optimal therapeutic strategies remain uncertain, and access to new drugs is often limited. This underscores the need to evaluate established and widely available options such as mycophenolate mofetil (MMF). The aim of this review is to critically assess the role of MMF, either as monotherapy or in combination with systemic corticosteroids, in the treatment of IgAN based on evidence cited in the KDIGO 2024 Draft Guidelines. We analyzed seven major clinical studies—five randomized controlled trials and two long-term observational studies—with particular focus on the influence of histological activity on treatment outcomes. The Oxford classification was applied to explore whether specific histological variables correlate with prognosis and predict treatment response. Trials conducted in Chinese cohorts demonstrated significant benefits of MMF, including proteinuria reduction, delayed progression to ESKD, and improved long-term renal outcomes, particularly in patients with recent disease onset and active proliferative lesions such as endocapillary hypercellularity and crescent formation. In contrast, studies from Western populations generally failed to demonstrate comparable benefit possibly due to differences in disease chronicity, histopathological patterns, and genetic background. Overall, MMF appears most effective when initiated early and in patients with histologic evidence of intraglomerular inflammation. It may represent a viable steroid-sparing option in appropriately selected patients, particularly where access to newly approved agents is restricted. These population- and pathology-based differences highlight the need for individualized treatment decisions and further research to refine the therapeutic role of MMF in IgAN. Full article

(This article belongs to the Special Issue Advances in Nephrology)

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24 pages, 12526 KiB

Open AccessReview

Advancements in Diagnosis of Neoplastic and Inflammatory Skin Diseases: Old and Emerging Approaches

by Serena Federico, Fortunato Cassalia, Marcodomenico Mazza, Paolo Del Fiore, Nuria Ferrera, Josep Malvehy, Irma Trilli, Ana Claudia Rivas, Gerardo Cazzato, Giuseppe Ingravallo, Marco Ardigò and Francesco Piscazzi

Diagnostics 2025, 15(16), 2100; https://doi.org/10.3390/diagnostics15162100 - 20 Aug 2025

Abstract

Background: In recent decades, dermatological diagnostics have undergone a profound transformation, driven by the integration of new technologies alongside traditional methods. Classic techniques such as the Tzanck smear, potassium hydroxide (KOH) preparation, and Wood’s lamp examination remain fundamental in everyday clinical practice due [...] Read more.

Background: In recent decades, dermatological diagnostics have undergone a profound transformation, driven by the integration of new technologies alongside traditional methods. Classic techniques such as the Tzanck smear, potassium hydroxide (KOH) preparation, and Wood’s lamp examination remain fundamental in everyday clinical practice due to their simplicity, speed, and accessibility. At the same time, the development of non-invasive imaging technologies and the application of artificial intelligence (AI) have opened new frontiers in the early detection and monitoring of both neoplastic and inflammatory skin diseases. Methods: This review aims to provide a comprehensive overview of how conventional and emerging diagnostic tools can be integrated into dermatologic practice. Results: We examined a broad spectrum of diagnostic methods currently used in dermatology, ranging from traditional techniques to advanced approaches such as digital dermoscopy, reflectance confocal microscopy (RCM), optical coherence tomography (OCT), line-field confocal OCT (LC-OCT), 3D total body imaging systems with AI integration, mobile applications, electrical impedance spectroscopy (EIS), and multispectral imaging. Each method is discussed in terms of diagnostic accuracy, clinical applications, and potential limitations. While traditional methods continue to play a crucial role—especially in resource-limited settings or for immediate bedside decision-making—modern tools significantly enhance diagnostic precision. Dermoscopy and its digital evolution have improved the accuracy of melanoma and basal cell carcinoma detection. RCM and LC-OCT allow near-histological visualization of skin structures, reducing the need for invasive procedures. AI-powered platforms support lesion tracking and risk stratification, though their routine implementation requires further clinical validation and regulatory oversight. Tools like EIS and multispectral imaging may offer additional value in diagnostically challenging cases. An effective diagnostic approach in dermatology should rely on a thoughtful combination of methods, selected based on clinical suspicion and guided by Bayesian reasoning. Conclusions: Rather than replacing traditional tools, advanced technologies should complement them—optimizing diagnostic accuracy, improving patient outcomes, and supporting more individualized, evidence-based care. Full article

(This article belongs to the Special Issue Advances in Diagnosis of Skin and Superficial Tissues Disorders—“Old and Emerging” Diagnostic Tools—2nd Edition)

16 pages, 5420 KiB

Open AccessCase Report

Severe Aortic Stenosis and Pre-Excitation Syndrome in Pregnancy—A Multidisciplinary Approach

by Miruna Florina Ştefan, Lucia Ştefania Magda, Catalin Gabriel Herghelegiu, Doru Herghelegiu, Oana Aurelia Zimnicaru, Catalin Constantin Badiu, Maria Claudia Berenice Suran, Andreea Elena Velcea, Calin Siliste and Dragoș Vinereanu

Diagnostics 2025, 15(16), 2099; https://doi.org/10.3390/diagnostics15162099 - 20 Aug 2025

Abstract

Background/Objectives: Heart disease affects 0.1% to 4% of pregnant women, with congenital heart defects being the leading cause in developed countries. While maternal mortality is generally low, pre-existing cardiac conditions substantially increase adverse outcome risks. This report describes the multidisciplinary management of [...] Read more.

Background/Objectives: Heart disease affects 0.1% to 4% of pregnant women, with congenital heart defects being the leading cause in developed countries. While maternal mortality is generally low, pre-existing cardiac conditions substantially increase adverse outcome risks. This report describes the multidisciplinary management of a pregnant patient with a bicuspid aortic valve, severe aortic stenosis, and ascending aortic ectasia. Case Presentation: A 34-year-old pregnant woman, asymptomatic but at high risk (World Health Organization Class III) for hemodynamic decompensation, was closely monitored throughout gestation. At 36 weeks, intrauterine growth restriction was detected, prompting an elective cesarean delivery at 38 weeks. Postpartum, the patient developed pre-eclampsia, which was managed successfully. Imaging revealed progressive aortic dilation, leading to surgical aortic valve replacement and ascending aorta reduction plasty. Post-operatively, atrioventricular reentrant tachycardia from an unrecognized accessory pathway developed; medical therapy effectively controlled the arrhythmia after failed catheter ablation. One year later, both mother and child remained in good health. Discussion: This case illustrates the complexity of managing pregnancy in women with congenital heart disease and significant aortic pathology. The physiological changes of pregnancy can exacerbate underlying lesions, necessitating individualized risk assessment, vigilant monitoring, and timely intervention. Conclusions: A multidisciplinary approach involving cardiology, obstetrics, anesthesiology, and genetics is essential to optimize outcomes for pregnant women with significant heart disease. As advances in care allow more women with congenital heart defects to reach childbearing age, structured care pathways remain vital for ensuring safe pregnancies and long-term cardiovascular health. Full article

(This article belongs to the Special Issue Diagnosis and Management of Contemporary Issues in Maternal-Fetal Medicine)

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18 pages, 977 KiB

Open AccessArticle

An Explainable Radiomics-Based Classification Model for Sarcoma Diagnosis

by Simona Correra, Arnar Evgení Gunnarsson, Marco Recenti, Francesco Mercaldo, Vittoria Nardone, Antonella Santone, Halldór Jónsson, Jr. and Paolo Gargiulo

Diagnostics 2025, 15(16), 2098; https://doi.org/10.3390/diagnostics15162098 - 20 Aug 2025

Abstract

Objective: This study introduces an explainable, radiomics-based machine learning framework for the automated classification of sarcoma tumors using MRI. The approach aims to empower clinicians, reducing dependence on subjective image interpretation. Methods: A total of 186 MRI scans from 86 patients [...] Read more.

Objective: This study introduces an explainable, radiomics-based machine learning framework for the automated classification of sarcoma tumors using MRI. The approach aims to empower clinicians, reducing dependence on subjective image interpretation. Methods: A total of 186 MRI scans from 86 patients diagnosed with bone and soft tissue sarcoma were manually segmented to isolate tumor regions and corresponding healthy tissue. From these segmentations, 851 handcrafted radiomic features were extracted, including wavelet-transformed descriptors. A Random Forest classifier was trained to distinguish between tumor and healthy tissue, with hyperparameter tuning performed through nested cross-validation. To ensure transparency and interpretability, model behavior was explored through Feature Importance analysis and Local Interpretable Model-agnostic Explanations (LIME). Results: The model achieved an F1-score of 0.742, with an accuracy of 0.724 on the test set. LIME analysis revealed that texture and wavelet-based features were the most influential in driving the model’s predictions. Conclusions: By enabling accurate and interpretable classification of sarcomas in MRI, the proposed method provides a non-invasive approach to tumor classification, supporting an earlier, more personalized and precision-driven diagnosis. This study highlights the potential of explainable AI to assist in more secure clinical decision-making. Full article

(This article belongs to the Special Issue New Trends in Musculoskeletal Imaging)

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15 pages, 744 KiB

Open AccessArticle

The Dynamic Interplay of Lifestyle, Dietary Factors, and Cardiometabolic Risk in Hypertension: A Cross-Sectional Investigation Among Saudi Adults

by Mohammad A. Jareebi

Diagnostics 2025, 15(16), 2097; https://doi.org/10.3390/diagnostics15162097 - 20 Aug 2025

Abstract

Background/Objectives: Hypertension is a growing public health concern in Saudi Arabia, driven by rapid socioeconomic changes. This study investigated the interplay between habitual, behavioral, and dietary risk factors associated with hypertension among Saudi adults. Methods: A cross-sectional survey was conducted among [...] Read more.

Background/Objectives: Hypertension is a growing public health concern in Saudi Arabia, driven by rapid socioeconomic changes. This study investigated the interplay between habitual, behavioral, and dietary risk factors associated with hypertension among Saudi adults. Methods: A cross-sectional survey was conducted among 3312 Saudi adults using multistage stratified random sampling. The data were collected via validated questionnaires assessing sociodemographic, anthropometric indicators, lifestyle behaviors, dietary patterns, and medical history. Hypertension status was determined through self-reported diagnosis. Bivariate analyses and multiple logistic regression identified independent predictors (p < 0.05). Results: Hypertension prevalence was 13% (mean age: 34 ± 15 years; 50% male). The strongest predictors were age (OR = 1.08/year; 95% CI: 1.07–1.10; p < 0.001), increased body mass index (OR = 1.03; 95% CI: 1.01–1.06; p = 0.011), smoking (OR = 1.55; 95% CI: 1.04–2.29; p = 0.030), and family history of hypertension (OR = 7.71; 95% CI: 5.61–10.75; p < 0.001). Participants with diabetes mellitus had 89% higher odds of hypertension (OR = 1.89; 95% CI: 1.42–2.51; p < 0.001), and those with dyslipidemia had more than double the odds (OR = 2.45; 95% CI: 1.38–4.22; p = 0.002). Protective factors included higher income (≥15,000 SAR; OR = 0.54; 95% CI: 0.36–0.81; p = 0.003) and regular whole grain consumption (OR = 0.60; 95% CI: 0.46–0.77; p < 0.001). Conclusions: Hypertension risk in Saudi adults is shaped by age, obesity, smoking, comorbid metabolic conditions (diabetes and dyslipidemia), and genetic pre-disposition. In contrast, higher income and whole grain intake may offer protection. These findings underscore the need for comprehensive prevention strategies that address both lifestyle and cardiometabolic comorbidities, in alignment with Saudi Vision 2030 health priorities. Full article

(This article belongs to the Special Issue Hypertension: Diagnosis and Management)

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13 pages, 1357 KiB

Open AccessArticle

Decision Tree Modeling to Predict Myopia Progression in Children Treated with Atropine: Toward Precision Ophthalmology

by Jun-Wei Chen, Chi-Jie Lu, Chieh-Han Yu, Tzu-Chi Liu and Tzu-En Wu

Diagnostics 2025, 15(16), 2096; https://doi.org/10.3390/diagnostics15162096 - 20 Aug 2025

Abstract

Background/Objectives: Myopia is a growing global health concern, especially among school-aged children in East Asia. Topical atropine is a key treatment for pediatric myopia control, but individual responses vary, with some children showing rapid progression despite higher doses. This retrospective observational study [...] Read more.

Background/Objectives: Myopia is a growing global health concern, especially among school-aged children in East Asia. Topical atropine is a key treatment for pediatric myopia control, but individual responses vary, with some children showing rapid progression despite higher doses. This retrospective observational study aims to develop an interpretable machine learning model to predict individualized treatment responses and support personalized clinical decisions, based on data collected over a 3-year period without a control group. Methods: A total of 1545 pediatric eyes treated with topical atropine for myopia control at a single tertiary medical center are analyzed. Classification and regression tree (CART) is constructed to predict changes in spherical equivalent (SE) and identify influencing risk factors. These factors are mainly received treatments for myopia including atropine dosage records, treatment duration, and ophthalmic examinations. Furthermore, decision rules that closely resemble the clinical diagnosis process are provided to assist clinicians with more interpretable insights into personalized treatment decisions. The performance of CART is evaluated by comparing with the benchmark model of least absolute shrinkage and selection operator regression (Lasso) to confirm the practicality of CART usage. Results: Both the CART and Lasso models demonstrated comparable predictive performance. The CART model identified baseline SE as the primary determinant of myopia progression. Children with a baseline SE more negative than −3.125 D exhibited greater myopic progression, particularly those with prolonged treatment duration and higher cumulative atropine dosage. Conclusions: Baseline SE has been identified as the key factor affecting SE difference. The generated decision rules from CART demonstrate the use of explainable machine learning in precision myopia management. Full article

(This article belongs to the Special Issue Global Perspectives on Myopia—Epidemiology, Pathophysiology, and Emerging Assessment Technologies)

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29 pages, 672 KiB

Open AccessReview

Targeted Screening Strategies for Head and Neck Cancer: A Global Review of Evidence, Technologies, and Cost-Effectiveness

by Orlando Guntinas-Lichius, Claudio Bücking, Sweet Ping Ng, Fernando López, Juan Pablo Rodrigo, Karthik N. Rao, Andrés Coca Pelaz, Luiz P. Kowalski, Cesare Piazza, Alessandra Rinaldo and Alfio Ferlito

Diagnostics 2025, 15(16), 2095; https://doi.org/10.3390/diagnostics15162095 - 20 Aug 2025

Abstract

Head and neck cancer (HNC) is the seventh most common cancer worldwide, with rising incidence particularly in oropharyngeal cancer subsites. Despite well-known risk factors, such as tobacco and alcohol consumption as well as human papillomavirus (HPV) infection, most HNCs are diagnosed at an [...] Read more.

Head and neck cancer (HNC) is the seventh most common cancer worldwide, with rising incidence particularly in oropharyngeal cancer subsites. Despite well-known risk factors, such as tobacco and alcohol consumption as well as human papillomavirus (HPV) infection, most HNCs are diagnosed at an advanced stage, resulting in poor prognosis. Early detection and screening are critical, especially in high-risk populations. Nevertheless, there is a lack of guidelines for a stratified HNC screening. A systematic literature review was conducted following PRISMA guidelines, using PubMed and ScienceDirect databases up to 30 June 2025. Search terms included “screening”, “early diagnosis”, and specific HNC subsites. A total of 199 records were screened, and 160 studies were included based on relevance and scientific rigor. The review concentrates on contemporary screening modalities, stratification of high-risk cohorts, emerging technologies, and cost-effectiveness evidence. Visual inspection and panendoscopy remain the standard tools for HNC screening, but have limited effectiveness and cost-efficiency. Opportunistic screening in high-risk individuals, especially in regions with high HNC prevalence, has shown benefits. Liquid biopsy techniques targeting HPV- and Epstein-Barr virus-related HNC demonstrate high sensitivity for early detection and recurrence monitoring. Novel imaging technologies like narrow-band imaging and Raman spectroscopy show promising diagnostic accuracy but require further validation. Most broad-based screening programs lack cost-effectiveness, while targeted strategies in high-risk groups appear more viable. Screening for HNC should be stratified by individual risk profiles and regional disease prevalence. Emerging technologies, particularly liquid and optical biopsy techniques, offer transformative potential. Future screening strategies must integrate technological advances into tailored, evidence-based protocols to improve early detection and patient outcomes in HNC. Full article

(This article belongs to the Special Issue Advances in Precision Diagnosis of Head and Neck Tumors: From Clues to Clarity)

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12 pages, 696 KiB

Open AccessArticle

From Description to Diagnostics: Assessing AI’s Capabilities in Forensic Gunshot Wound Classification

by Francesco Sessa, Elisa Guardo, Massimiliano Esposito, Mario Chisari, Lucio Di Mauro, Monica Salerno and Cristoforo Pomara

Diagnostics 2025, 15(16), 2094; https://doi.org/10.3390/diagnostics15162094 - 20 Aug 2025

Abstract

Background/Objectives: The integration of artificial intelligence (AI) into forensic science is expanding, yet its application in firearm injury diagnostics remains underexplored. This study investigates the diagnostic capabilities of ChatGPT-4 (February 2024 update) in classifying gunshot wounds, specifically distinguishing entrance from exit wounds, [...] Read more.

Background/Objectives: The integration of artificial intelligence (AI) into forensic science is expanding, yet its application in firearm injury diagnostics remains underexplored. This study investigates the diagnostic capabilities of ChatGPT-4 (February 2024 update) in classifying gunshot wounds, specifically distinguishing entrance from exit wounds, and evaluates its potential, limitations, and forensic applicability. Methods: ChatGPT-4 was tested using three datasets: (1) 36 firearm injury images from an external database, (2) 40 images of intact skin from the forensic archive of the University of Catania (negative control), and (3) 40 real-case firearm injury images from the same archive. The AI’s performance was assessed before and after machine learning (ML) training, with classification accuracy evaluated through descriptive and inferential statistics. Results: ChatGPT-4 demonstrated a statistically significant improvement in identifying entrance wounds post-ML training, with enhanced descriptive accuracy of morphological features. However, its performance in classifying exit wounds remained limited, reflecting challenges noted in forensic literature. The AI showed high accuracy (95%) in distinguishing intact skin from injuries in the negative control analysis. A lack of standardized datasets and contextual forensic information contributed to misclassification, particularly for exit wounds. Conclusions: While ChatGPT-4 is not yet a substitute for specialized forensic deep learning models, its iterative learning capacity and descriptive improvements suggest potential as a supplementary diagnostic tool in forensic pathology. However, risks such as overconfident misclassifications and AI-generated hallucinations highlight the need for expert oversight and cautious integration in forensic workflows. Future research should prioritize dataset expansion, contextual data integration, and standardized validation protocols to enhance AI reliability in medico-legal diagnostics. Full article

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

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14 pages, 1074 KiB

Open AccessCase Report

Vestibulo-Ocular Reflex Results in Patients with Intralabyrinthine Schwannomas: Case Series with a Literature Review

by Xiaoye Chen, Yingzhao Liu, Yangming Leng, Ping Lei, Xingqian Shen, Kaijun Xia, Qin Liu, Ziying Xu, Bo Liu and Hongjun Xiao

Diagnostics 2025, 15(16), 2093; https://doi.org/10.3390/diagnostics15162093 - 20 Aug 2025

Abstract

Background and Clinical Significance: Intralabyrinthine schwannoma (ILS) is a rare benign tumor of the inner ear, often presenting with nonspecific symptoms such as hearing loss, tinnitus and vertigo. Vestibular function in ILS patients remains underexplored. This study aims to evaluate vestibulo-ocular reflex (VOR) [...] Read more.

Background and Clinical Significance: Intralabyrinthine schwannoma (ILS) is a rare benign tumor of the inner ear, often presenting with nonspecific symptoms such as hearing loss, tinnitus and vertigo. Vestibular function in ILS patients remains underexplored. This study aims to evaluate vestibulo-ocular reflex (VOR) function and inner ear magnetic resonance imaging (MRI) signal changes in ILS, and to provide insights into potential mechanisms underlying vestibular dysfunction. Case Presentation: We report four cases of MRI confirmed ILS, including two intravestibular and two intravestibulocochlear schwannomas. All patients exhibited unilateral canal paresis on caloric testing, and two of three showed abnormal video head impulse test (vHIT) with decreased VOR gain and corrective saccades. Decreased signal intensity was observed in the semicircular canals in three cases, in the vestibule in one case, and in the cochlea in one case. A systematic literature review including 10 studies (n = 171) showed a 73.3% rate of abnormal caloric responses. Five studies conducted vHIT, reporting reduced mean VOR gain and corrective saccades, though quantitative analysis was limited. Cervical and ocular vestibular evoked myogenic potential abnormalities were found in 68.4% and 65.7% of reported cases, respectively. Conclusions: Impaired VOR function in patients with ILS may result not only from anatomical disruption but also from underlying biochemical or metabolic alterations within the inner ear. Full article

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

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13 pages, 547 KiB

Open AccessReview

Postmortem Pink Teeth: Forensic Classification, Diagnostic Value, and Analysis Methods

by Isabella Aquila, Saverio Gualtieri, Aurora Princi and Matteo Antonio Sacco

Diagnostics 2025, 15(16), 2092; https://doi.org/10.3390/diagnostics15162092 - 20 Aug 2025

Abstract

The phenomenon of pink teeth represents a notable observation in forensic science, although its interpretation remains complex and not directly attributable to a specific cause of death. This systematic review provides an updated and comprehensive overview of the morphological and histological mechanisms associated [...] Read more.

The phenomenon of pink teeth represents a notable observation in forensic science, although its interpretation remains complex and not directly attributable to a specific cause of death. This systematic review provides an updated and comprehensive overview of the morphological and histological mechanisms associated with this finding, with a focus on hemoglobin diffusion and pigment accumulation during putrefaction rather than on detailed biochemical pathways. Environmental conditions, especially high humidity and moderate temperatures, are identified as key facilitators. The synthesis of the available evidence, including case reports, observational series, and experimental studies, confirms that pink discoloration is primarily linked to postmortem hemoglobin diffusion following erythrocyte breakdown and release of heme groups into dentinal structures. This process occurs more frequently under conditions that preserve hemoglobin and facilitate its migration into dental tissues. Importantly, pink teeth have been documented across a wide spectrum of postmortem scenarios, such as hanging, drowning, carbon monoxide poisoning, and prolonged exposure to humid environments, indicating that their presence is neither pathognomonic nor exclusively associated with a specific cause of death. Assessment methods include semi-quantitative visual scoring systems (e.g., SPTC and SPTR), spectrophotometric assays, and histochemical analyses for hemoglobin derivatives. Recent advances in digital forensics, particularly micro-computed tomography and artificial intelligence–based segmentation, may further support the objective evaluation of chromatic dental changes. This review underscores the need for standardized approaches to the identification, classification, and analysis, both qualitative and quantitative, of pink teeth in medico-legal practice. Although not diagnostic in isolation, their systematic study enhances our understanding of decomposition processes and contributes supplementary interpretive data in forensic investigations. Full article

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

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21 pages, 2500 KiB

Open AccessArticle

A Retrospective Study on the Association of the Systemic Inflammatory Response Index in Predicting the Severity of Obstructive Sleep Apnea

by Shamnaz Shahul, Sindaghatta Krishnarao Chaya, Sana Khader Mathamveed, Komarla Sundararaja Lokesh, Suhail Azam Khan, Aishwarya R. Aladakatti, Venkatesh Kumar, Vivek Vasanthan, Jayaraj Biligere Siddaiah and Padukudru Anand Mahesh

Diagnostics 2025, 15(16), 2091; https://doi.org/10.3390/diagnostics15162091 - 20 Aug 2025

Abstract

Background/Objectives: Obstructive sleep apnea (OSA) is a common disorder characterized by intermittent hypoxia and sleep fragmentation, assessed using the Apnea–Hypopnea Index (AHI). Systemic inflammation is central to OSA progression, and the systemic inflammatory response index (SIRI) has emerged as a potential biomarker for [...] Read more.

Background/Objectives: Obstructive sleep apnea (OSA) is a common disorder characterized by intermittent hypoxia and sleep fragmentation, assessed using the Apnea–Hypopnea Index (AHI). Systemic inflammation is central to OSA progression, and the systemic inflammatory response index (SIRI) has emerged as a potential biomarker for inflammatory diseases. This study investigates the relationship between SIRI and OSA severity while comparing other inflammatory markers. Methods: A retrospective study was conducted among 150 OSA patients at a tertiary care hospital. Based on AHI, patients were categorized into mild, moderate, and severe OSA groups. Blood parameters, including neutrophil, monocyte, and lymphocyte counts, were analyzed, and inflammatory indices (SIRI, NLR, PLR) were calculated. Correlation, ROCs, and regression analyses assessed associations between inflammatory markers and OSA severity. Results: SIRI demonstrated an excellent predictive ability for severe OSA with an AUC of 0.960 (cut-off: 1.105; sensitivity: 92.2%; specificity: 91.4%). The STOP-BANG score alone had lower discriminatory power (AUC: 0.737), but combining it with SIRI improved accuracy (AUC: 0.983). The best performance was observed when SIRI, STOP-BANG, PLR, and CRP were combined, yielding an AUC of 1.00, indicating perfect discrimination. Conclusions: SIRI shows strong predictive value for identifying severe OSA, underscoring its utility as a simple, cost-effective biomarker to aid early recognition and referral, particularly in primary care and resource-limited settings. Full article

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

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12 pages, 1042 KiB

Open AccessArticle

Prediction of Immunotherapy Response in Hepatocellular Carcinoma Patients Using Pretreatment CT Images

by Ji Hye Min, Pin-Jung Chen, Touseef Ahmad Qureshi, Sehrish Javed, Yibin Xie, Linda Azab, Lixia Wang, Hyun-seok Kim, Debiao Li and Ju Dong Yang

Diagnostics 2025, 15(16), 2090; https://doi.org/10.3390/diagnostics15162090 - 20 Aug 2025

Abstract

Background/Aims: Predicting treatment response to immunotherapy in hepatocellular carcinoma (HCC) is essential to improve clinical outcomes with personalized treatment strategies. This study aims to develop an AI-driven prediction model using radiomic analysis from the liver and viable HCCs on pretreatment CT to differentiate [...] Read more.

Background/Aims: Predicting treatment response to immunotherapy in hepatocellular carcinoma (HCC) is essential to improve clinical outcomes with personalized treatment strategies. This study aims to develop an AI-driven prediction model using radiomic analysis from the liver and viable HCCs on pretreatment CT to differentiate responders from non-responders. Methods: HCC patients who received immunotherapy between 2016 and 2023 with pretreatment CT scans were included. Radiomic features were extracted from the whole liver and the viable HCCs on the portal venous phase CT prior to immunotherapy. Multiple machine learning models were trained for binary classification to predict treatment response, initially using liver features (Model 1), and subsequently including both liver and tumor features (Model 2). Model performance was evaluated using three-fold cross-validation. Results: Among 55 HCC patients (median age, 69; 76.4% male) who received immunotherapy, 21 (38.2%) were responders and 34 (61.8%) non-responders by mRECIST criteria. Over 5000 radiomic features were extracted from pretreatment CT scans of the liver and viable tumors, of which approximately 100 were predictive of treatment response. Model 1 (liver) achieved an average accuracy of 77%, sensitivity of 76%, and specificity of 78%. Model 2 (liver and tumor) demonstrated improved performance, with accuracy, sensitivity, and specificity of 86%, 70%, and 94%, respectively, supporting the value of combined liver–tumor radiomics in treatment response prediction. Conclusions: This pilot study developed an AI-based model using CT-derived radiomic features to predict immunotherapy response in HCC patients. The approach may offer a non-invasive strategy to support personalized treatment planning using pretreatment CT scans. Full article

(This article belongs to the Special Issue Artificial Intelligence-Driven Radiomics in Medical Diagnosis)

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14 pages, 4612 KiB

Open AccessArticle

Focused Analysis of Complications Associated with Bovine Xenohybrid Bone Grafts Following Maxillary Sinus Augmentation via the Lateral Approach: A Retrospective Cohort Study

by Pascal Grün, Marius Meier, Alexander Anderl, Christoph Kleber, Flora Turhani, Tim Schiepek, S. M. Ragib Shahriar Islam, Sebastian Fitzek, Patrick Bandura and Dritan Turhani

Diagnostics 2025, 15(16), 2089; https://doi.org/10.3390/diagnostics15162089 - 20 Aug 2025

Abstract

Background: Maxillary sinus floor augmentation (MSFA) is commonly used to increase posterior maxillary bone volume prior to implant placement. Although generally successful, late complications can impact long-term outcomes. The purpose of the study was to estimate the incidence and timing of atypical [...] Read more.

Background: Maxillary sinus floor augmentation (MSFA) is commonly used to increase posterior maxillary bone volume prior to implant placement. Although generally successful, late complications can impact long-term outcomes. The purpose of the study was to estimate the incidence and timing of atypical late complications following (MSFA) using bovine xenohybrid bone grafts. The study also aimed to evaluate whether preoperative bone volume is associated with the risk of complications. Methods: This retrospective cohort study was conducted at the Center of Oral and Maxillofacial Surgery, Danube Private University, Krems-Stein, Austria, and included patients who underwent MSFA with bovine xenohybrid bone grafts and either simultaneous or staged implant placement between January 2020 and December 2023. Preoperative bone volume of the posterior maxilla measured via cone beam computed tomography (CBCT) in the planned implant insertion position. The primary endpoint was the time (days) from MSFA to the occurrence of a graft-related complication (defined as atypical if occurring more than 6 months after MSFA and not related to peri-implantitis) The covariates included subjects’ age, sex, the quantity of graft used for MSFA, timing of dental implant insertion (simultaneous vs. staged) and implant dimensions. Kaplan–Meier analysis and Cox proportional hazards regression were used to evaluate time-to-event data. Only one graft site per patient was analyzed. Results: Atypical complications occurred in 9 out of 47 patients (19.1%), with an average time to onset of 645 days. In a multivariable analysis, a lower preoperative bone volume was found to be an independent predictor of an increased risk of complications (hazard ratio [HR]: 0.972; 95% confidence interval [CI]: 0.925–1.021; p = 0.252). However, the quantity of graft used for MSFA was not found to be a predictor (p = 0.46). Conclusions: Within the limitations of a retrospective study, reduced native bone volume appears to increase the risk of atypical late complications following MSFA with bovine xenohybrid grafts. This makes closer clinical and radiologic follow-up of patients over a longer period very necessary. Full article

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

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10 pages, 1258 KiB

Open AccessArticle

Color Doppler Patterns’ Recognition Indicative of Congenital Heart Defects at the First-Trimester Referral Scan

by Valentina De Robertis, Mariachiara Bosco, Ilaria Fantasia, Claudiana Olivieri, Tiziana Fanelli and Paolo Volpe

Diagnostics 2025, 15(16), 2088; https://doi.org/10.3390/diagnostics15162088 - 20 Aug 2025

Abstract

Background/Objectives: First-trimester referral scans in high-risk pregnancies are performed by expert fetal medicine operators using an extended protocol that includes direct fetal heart assessment. This study evaluated inter-operator agreement in characterizing the four-chamber view (4CV) and three vessels and trachea view (3VTV) [...] Read more.

Background/Objectives: First-trimester referral scans in high-risk pregnancies are performed by expert fetal medicine operators using an extended protocol that includes direct fetal heart assessment. This study evaluated inter-operator agreement in characterizing the four-chamber view (4CV) and three vessels and trachea view (3VTV) using color Doppler during such scans in both normal and abnormal cases. Methods: Two independent operators and a fetal cardiologist, all blinded to final diagnoses, retrospectively reviewed 2D images and video clips of the 4CV and 3VTV in 90 fetuses (45 with congenital heart disease [CHD] and 45 controls). The 4CV was classified into four patterns: (1) two atrioventricular (A-V) inflows of similar size, (2) one A-V inflow filling two ventricles, (3) one A-V inflow filling one ventricle, and (4) two A-V inflows with disproportion. The 3VTV was assessed for (1) normal V-sign, (2) abnormal vessel number, (3) abnormal vessel dimension, (4) abnormal spatial relationships, and (5) ductal dependence. Agreement was measured using Cohen’s Kappa. Results: Perfect agreement (K = 1) was seen in normal cases. In CHD cases, inter-operator and operator–cardiologist agreement was almost perfect for 4CV (K = 0.83–0.96) and substantial for 3VTV (K = 0.77–0.80). The lowest agreement occurred with ventricular disproportion in 4CV and abnormalities in vessel number and size in 3VTV. Conclusions: Expert operators show strong agreement in interpreting 4CV and 3VTV patterns in first-trimester scans using color Doppler. However, certain abnormalities—particularly ventricular disproportion and vessel anomalies—remain challenging to consistently interpret. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)

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Diagnostics, Volume 15, Issue 16 (August-2 2025) – 135 articles

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