Diagnostics

14 pages, 7365 KiB

Open AccessArticle

Improvement of Colonoscopic Image Quality Using a New LED Endoscopic System with Specialized Noise Reduction

by Naohisa Yoshida, Masahiro Okada, Yoshikazu Hayashi, Reo Kobayashi, Ken Inoue, Osamu Dohi, Yoshito Itoh, Ryohei Hirose, Lucas Cardoso, Kohei Suzuki, Tomonori Yano and Hironori Yamamoto

Diagnostics 2025, 15(12), 1569; https://doi.org/10.3390/diagnostics15121569 - 19 Jun 2025

Viewed by 195

Abstract

Background/Objectives: A new LED endoscopy system featuring advanced noise-reduction technology, the EP-8000 with the EC-860ZP colonoscope (Fujifilm), was introduced in 2024. We evaluated the improvements in colonoscopic image quality of this system, comparing it with a previous system/scope (VP-7000/EC-760ZP). Methods: This is a [...] Read more.

Background/Objectives: A new LED endoscopy system featuring advanced noise-reduction technology, the EP-8000 with the EC-860ZP colonoscope (Fujifilm), was introduced in 2024. We evaluated the improvements in colonoscopic image quality of this system, comparing it with a previous system/scope (VP-7000/EC-760ZP). Methods: This is a multicenter, observational study. From January 2024 to February 2025, 150 patients undergoing colonoscopy at two institutions were enrolled. Images of the cecum and lesions were captured using white light imaging (WLI), blue light imaging (BLI), and linked color imaging (LCI) under similar conditions. Participants were divided into three groups: Group 1 (EP-8000+EC-860ZP; 50 cases), Group 2 (EP-8000+EC-760ZP; 50 cases), and Group 3 (VP-7000+EC-760ZP; 50 cases). Cecal and lesion images were evaluated for brightness, halation, and visibility using a four-point scale (1 = poor to 4 = excellent) by endoscopists and original values by image-analysis software. Results: In cecal images, the endoscopists’ scores in Group 1 were significantly better than in Group 3 for brightness (WLI: 3.71 ± 0.55 vs. 3.51 ± 0.58, p < 0.001, BLI: 3.15 ± 0.85 vs. 2.23 ± 0.92, p < 0.001; LCI: 3.83 ± 0.42 vs. 3.54 ± 0.58, p < 0.001) and for halation (WLI: 3.60 ± 0.51 vs. 3.18 ± 0.59, p < 0.001, BLI: 2.99 ± 0.69 vs. 2.71 ± 0.78, p < 0.001; LCI: 3.33 ± 0.60 vs. 3.10 ± 0.58, p < 0.001). Software analysis confirmed that Group 1 had superior brightness values compared with Group 3 for WLI, BLI, and LCI, as well as lower halation values for WLI and LCI. Regarding lesion images, brightness, halation, and visibility for WLI, BLI, and LCI were superior in Group 1 than in Group 3. Conclusions: The new LED system provided improvements in brightness, halation, and lesion visibility. Full article

(This article belongs to the Special Issue New Advances in Digestive Endoscopy)

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33 pages, 15086 KiB

Open AccessReview

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders—Part II

by Alexandr Ceasovschih, Anastasia Balta, Victorița Șorodoc, Krishnaraj Rathod, Ahmed El Gohary, Serghei Covantsev, Richárd Masszi, Yusuf Ziya Şener, Alexandru Corlăteanu, Syed Haseeb Raza Naqvi, Alexandra Grejdieru, Nicholas G. Kounis and Laurențiu Șorodoc

Diagnostics 2025, 15(12), 1568; https://doi.org/10.3390/diagnostics15121568 - 19 Jun 2025

Viewed by 765

Abstract

The electrocardiogram (ECG) remains a cornerstone of modern cardiology, providing rapid, non-invasive, and widely accessible diagnostic insights. While ECG interpretation is an essential skill for clinicians, certain patterns can be subtle or atypical, posing diagnostic challenges. In our previous review (doi.org/10.3390/jpm12111754), we explored [...] Read more.

The electrocardiogram (ECG) remains a cornerstone of modern cardiology, providing rapid, non-invasive, and widely accessible diagnostic insights. While ECG interpretation is an essential skill for clinicians, certain patterns can be subtle or atypical, posing diagnostic challenges. In our previous review (doi.org/10.3390/jpm12111754), we explored several uncommon ECG syndromes with significant clinical implications. However, the spectrum of electrocardiographic abnormalities extends far beyond those initially discussed. In this second installment, we expand our discussion of rare and underrecognized ECG syndromes, including Long QT, Jervell and Lange-Nielsen, Romano–Ward, Andersen–Tawil, Timothy, Short QT, and Twiddler’s syndromes, as well as Noonan, Barlow’s, Bundgaard, BRASH, Carvajal, Naxos, and Danon disease. We highlight their clinical context, characteristic findings, and implications for diagnosis and management. These conditions range from acute, life-threatening emergencies requiring immediate intervention to chronic electrical disorders necessitating long-term monitoring and risk stratification. By broadening our focus, we aim to enhance awareness and recognition of these entities, ultimately improving patient outcomes through timely and accurate diagnosis. Full article

(This article belongs to the Special Issue New Radiological, Electrocardiographic and Biochemical Cardiovascular Risk Factors in 2025)

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16 pages, 3218 KiB

Open AccessArticle

Thymidine Kinase 1 Expression Correlates with Tumor Aggressiveness and Metastatic Potential in OSCC

by Chia-Jung Lee, Pei-Wen Peng, Chia-Yu Wu, Tsung-Ming Chang, Ju-Fang Liu and Kuan-Chou Lin

Diagnostics 2025, 15(12), 1567; https://doi.org/10.3390/diagnostics15121567 - 19 Jun 2025

Viewed by 231

Abstract

Background/Objectives: Oral squamous cell carcinoma (OSCC) is the most prevalent malignancy of the oral cavity and is frequently diagnosed at an advanced stage, resulting in poor prognosis and limited treatment options. Identifying reliable biomarkers that can predict tumor progression and serve as therapeutic [...] Read more.

Background/Objectives: Oral squamous cell carcinoma (OSCC) is the most prevalent malignancy of the oral cavity and is frequently diagnosed at an advanced stage, resulting in poor prognosis and limited treatment options. Identifying reliable biomarkers that can predict tumor progression and serve as therapeutic targets remains an urgent clinical need. Methods: To identify key molecular drivers in OSCC, we performed an integrative bioinformatics analysis of five OSCC-related microarray datasets from the Gene Expression Omnibus (GEO). Differentially expressed genes (DEGs) were identified and subjected to functional enrichment, protein–protein interaction (PPI) network construction, and hub gene ranking using Cytoscape. Candidate genes were further validated using TCGA, UALCAN, and the Human Protein Atlas. In vitro functional assays were performed to evaluate the effect of TK1 knockdown on cell migration. Results: A total of 138 common DEGs were identified across datasets. GO enrichment revealed that these genes were associated with cell proliferation, extracellular matrix organization, and metastasis-related processes. Thymidine kinase 1 (TK1) was identified as a key hub gene and found to be consistently overexpressed in OSCC tissues. Kaplan–Meier analysis showed that high TK1 expression correlated with poor overall survival in head and neck cancer. TK1 knockdown in OSCC cell lines significantly impaired cell migration and wound-healing ability. Conclusions: Our findings suggest that TK1 plays an active role in promoting OSCC progression and may serve as a prognostic biomarker and potential therapeutic target for metastatic OSCC. Full article

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

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14 pages, 354 KiB

Open AccessArticle

An Exploration of Discrepant Recalls Between AI and Human Readers of Malignant Lesions in Digital Mammography Screening

by Suzanne L. van Winkel, Ioannis Sechopoulos, Alejandro Rodríguez-Ruiz, Wouter J. H. Veldkamp, Gisella Gennaro, Margarita Chevalier, Thomas H. Helbich, Tianyu Zhang, Matthew G. Wallis and Ritse M. Mann

Diagnostics 2025, 15(12), 1566; https://doi.org/10.3390/diagnostics15121566 - 19 Jun 2025

Viewed by 252

Abstract

Background: The integration of artificial intelligence (AI) in digital mammography (DM) screening holds promise for early breast cancer detection, potentially enhancing accuracy and efficiency. However, AI performance is not identical to that of human observers. We aimed to identify common morphological image characteristics [...] Read more.

Background: The integration of artificial intelligence (AI) in digital mammography (DM) screening holds promise for early breast cancer detection, potentially enhancing accuracy and efficiency. However, AI performance is not identical to that of human observers. We aimed to identify common morphological image characteristics of true cancers that are missed by either AI or human screening when their interpretations are discrepant. Methods: Twenty-six breast cancer-positive cases, identified from a large retrospective multi-institutional digital mammography dataset based on discrepant AI and human interpretations, were included in a reader study. Ground truth was confirmed by histopathology or ≥1-year follow-up. Fourteen radiologists assessed lesion visibility, morphological features, and likelihood of malignancy. AI performance was evaluated using receiver operating characteristic (ROC) analysis and area under the curve (AUC). The reader study results were analyzed using interobserver agreement measures and descriptive statistics. Results: AI demonstrated high discriminative capability in the full dataset, with AUCs ranging from 0.903 (95% CI: 0.862–0.944) to 0.946 (95% CI: 0.896–0.996). Cancers missed by AI had a significantly smaller median size (9.0 mm, IQR 6.5–12.0) compared to those missed by human readers (21.0 mm, IQR 10.5–41.0) (p = 0.0014). Cancers in discrepant cases were often described as having ‘low visibility’, ‘indistinct margins’, or ‘irregular shape’. Calcifications were observed in 27% of human-missed cancers (42/154) versus 18% of AI-missed cancers (38/210). A very high likelihood of malignancy was assigned in 32.5% (50/154) of human-missed cancers compared to 19.5% (41/210) of AI-missed cancers. Overall inter-rater agreement was poor to fair (<0.40), indicating interpretation challenges of the selected images. Among the human-missed cancers, calcifications were more frequent (42/154; 27%) than among the AI-missed cancers (38/210; 18%) (p = 0.396). Furthermore, 50/154 (32.5%) human-missed cancers were deemed to have a very high likelihood of malignancy, compared to 41/210 (19.5%) AI-missed cancers (p = 0.8). Overall inter-rater agreement on the items assessed during the reader study was poor to fair (<0.40), suggesting that interpretation of the selected images was challenging. Conclusions: Lesions missed by AI were smaller and less often calcified than cancers missed by human readers. Cancers missed by AI tended to show lower levels of suspicion than those missed by human readers. While definitive conclusions are premature, the findings highlight the complementary roles of AI and human readers in mammographic interpretation. Full article

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

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15 pages, 982 KiB

Open AccessArticle

Prehospital Performance of Five Early Warning Scores to Predict Long-Term Mortality in Patients with Suspected Respiratory Infections

by Enrique Castro-Portillo, Raúl López-Izquierdo, Irene Bermúdez Castellanos, Miguel Á. Castro Villamor, Ancor Sanz-García and Francisco Martín-Rodríguez

Diagnostics 2025, 15(12), 1565; https://doi.org/10.3390/diagnostics15121565 - 19 Jun 2025

Viewed by 156

Abstract

Background: Respiratory infections (RIs) are a common cause of care by Prehospital Emergency Medical Services (PEMS). Early Warning Scores (EWS) are tools used by PEMS to assess patients with acute pathology. However, there is little evidence of their application in RIs. The primary [...] Read more.

Background: Respiratory infections (RIs) are a common cause of care by Prehospital Emergency Medical Services (PEMS). Early Warning Scores (EWS) are tools used by PEMS to assess patients with acute pathology. However, there is little evidence of their application in RIs. The primary aim of this study was to assess the ability of five EWS to predict one-year mortality (M1Y) and two-year (M2Y) mortality in patients with suspected RI assisted by PEMS. The secondary objective was to perform a survival analysis. Methods: An observational and prospective study was conducted in adult patients with RIs transferred by EMS to their referral hospital. The variables necessary for the calculation of EWS [National Early Warning Score 2 (NEWS2), Quick Sequential Organ Failure Assessment (qSOFA) score, Quick COVID-19 Severity Index (qCSI), CURB-65 Score for Pneumonia Severity (CURB-65) and BAP-65 Score for Acute Exacerbation of COPD (BAP-65) score] were collected. The prognostic ability of the EWS was assessed by the area under the receiver operating characteristic curve (AUC). Patients were followed up and a survival study was performed. Results: A total of 819 patients met the inclusion criteria. M1Y was 55.9% and M2Y was 63.5%. BAP-65 showed the best predictive ability at both 1 and 2 years, with AUC of 0.716 and 0.711, respectively. 48.8% of deaths took place during the first month. Conclusions: BAP-65 was the score with the best ability to predict both M1Y and M2Y after the index event in patients with RIs. All other EWS analyzed showed poor performance except in patients with low comorbidity. Full article

(This article belongs to the Special Issue Emergency Medicine: Diagnostic Insights)

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24 pages, 4557 KiB

Open AccessArticle

Advanced Multi-Level Ensemble Learning Approaches for Comprehensive Sperm Morphology Assessment

by Abdulsamet Aktas, Taha Cap, Gorkem Serbes, Hamza Osman Ilhan and Hakkı Uzun

Diagnostics 2025, 15(12), 1564; https://doi.org/10.3390/diagnostics15121564 - 19 Jun 2025

Viewed by 222

Abstract

Introduction: Fertility is fundamental to human well-being, significantly impacting both individual lives and societal development. In particular, sperm morphology—referring to the shape, size, and structural integrity of sperm cells—is a key indicator in diagnosing male infertility and selecting viable sperm in assisted reproductive [...] Read more.

Introduction: Fertility is fundamental to human well-being, significantly impacting both individual lives and societal development. In particular, sperm morphology—referring to the shape, size, and structural integrity of sperm cells—is a key indicator in diagnosing male infertility and selecting viable sperm in assisted reproductive technologies such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI). However, traditional manual evaluation methods are highly subjective and inconsistent, creating a need for standardized, automated systems. Objectives: This study aims to develop a robust and fully automated sperm morphology classification framework capable of accurately identifying a wide range of morphological abnormalities, thereby minimizing observer variability and improving diagnostic support in reproductive healthcare. Methods: We propose a novel ensemble-based classification approach that combines convolutional neural network (CNN)-derived features using both feature-level and decision-level fusion techniques. Features extracted from multiple EfficientNetV2 variants are fused and classified using Support Vector Machines (SVM), Random Forest (RF), and Multi-Layer Perceptron with Attention (MLP-Attention). Decision-level fusion is achieved via soft voting to enhance robustness and accuracy. Results: The proposed ensemble framework was evaluated using the Hi-LabSpermMorpho dataset, which contains 18 distinct sperm morphology classes. The fusion-based model achieved an accuracy of 67.70%, significantly outperforming individual classifiers. The integration of multiple CNN architectures and ensemble techniques effectively mitigated class imbalance and enhanced the generalizability of the model. Conclusions: The presented methodology demonstrates a substantial improvement over traditional and single-model approaches in automated sperm morphology classification. By leveraging ensemble learning and multi-level fusion, the model provides a reliable and scalable solution for clinical decision-making in male fertility assessment. Full article

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

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11 pages, 688 KiB

Open AccessArticle

Comparison of Trauma Scoring Systems for Predicting Mortality in Emergency Department Patients with Traffic-Related Multiple Trauma

by Murtaza Kaya, Harun Yildirim, Mehmet Toprak and Mehmed Ulu

Diagnostics 2025, 15(12), 1563; https://doi.org/10.3390/diagnostics15121563 - 19 Jun 2025

Viewed by 200

Abstract

Background/Objectives: Trauma scoring systems are essential tools for predicting clinical outcomes in patients with multiple injuries. This study aimed to compare the performance of various anatomical and physiological scoring systems in predicting mortality among patients admitted to the emergency department following traffic accidents. [...] Read more.

Background/Objectives: Trauma scoring systems are essential tools for predicting clinical outcomes in patients with multiple injuries. This study aimed to compare the performance of various anatomical and physiological scoring systems in predicting mortality among patients admitted to the emergency department following traffic accidents. Methods: In this prospective observational study, trauma patients presenting with traffic-related injuries were evaluated using seven scoring systems: ISS, NISS, AIS, GCS, RTS, TRISS, and APACHE II. Demographic data, clinical findings, and laboratory values were recorded. The prognostic performance of each score was assessed using ROC curve analysis, and diagnostic metrics including sensitivity, specificity, and likelihood ratios were calculated. Results: Among 554 patients included in the study, the overall mortality rate was 2%. The TRISS and GCS scores demonstrated the highest predictive performance, each with an AUC of 0.98, sensitivity of 100%, and specificity exceeding 93%. APACHE II followed closely with an AUC of 0.97, also achieving 100% sensitivity. NISS (AUC = 0.92) and ISS (AUC = 0.91) were effective anatomical scores, while RTS showed moderate predictive value (AUC = 0.90). Strong correlations were noted between ISS, NISS, and AIS (Rho > 0.85), while RTS was negatively correlated with these anatomical scores. All scoring systems showed statistically significant associations with mortality. Conclusions: TRISS, GCS, and APACHE II were the most effective trauma scoring systems in predicting mortality among emergency department patients. While complex models offer higher accuracy, simpler scores such as RTS and GCS remain valuable for rapid triage. The integration of both anatomical and physiological parameters may enhance early risk stratification and support timely decision-making in trauma care. Full article

(This article belongs to the Special Issue Clinical Advances of Diagnosis and Management in Emergency Medicine)

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20 pages, 1610 KiB

Open AccessReview

Precision Medicine in Lung Cancer Screening: A Paradigm Shift in Early Detection—Precision Screening for Lung Cancer

by Hsin-Hung Chen, Yun-Ju Wu and Fu-Zong Wu

Diagnostics 2025, 15(12), 1562; https://doi.org/10.3390/diagnostics15121562 - 19 Jun 2025

Viewed by 309

Abstract

Lung cancer remains the leading cause of cancer-related mortality globally, largely due to late-stage diagnoses. While low-dose computed tomography (LDCT) has improved early detection and reduced mortality in high-risk populations, traditional screening strategies often adopt a one-size-fits-all approach based primarily on age and [...] Read more.

Lung cancer remains the leading cause of cancer-related mortality globally, largely due to late-stage diagnoses. While low-dose computed tomography (LDCT) has improved early detection and reduced mortality in high-risk populations, traditional screening strategies often adopt a one-size-fits-all approach based primarily on age and smoking history. This can lead to limitations, such as overdiagnosis, false positives, and the underrepresentation of non-smokers, which are especially prevalent in Asian populations. Precision medicine offers a transformative solution by tailoring screening protocols to individual risk profiles through the integration of clinical, genetic, environmental, and radiological data. Emerging tools, such as risk prediction models, radiomics, artificial intelligence (AI), and liquid biopsies, enhance the accuracy of screening, allowing for the identification of high-risk individuals who may not meet conventional criteria. Polygenic risk scores (PRSs) and molecular biomarkers further refine stratification, enabling more personalized and effective screening intervals. Incorporating these innovations into clinical workflows, alongside shared decision-making (SDM) and robust data infrastructure, represents a paradigm shift in lung cancer prevention. However, implementation must also address challenges related to health equity, algorithmic bias, and system integration. As precision medicine continues to evolve, it holds the promise of optimizing early detection, minimizing harm, and extending the benefits of lung cancer screening to broader and more diverse populations. This review explores the current landscape and future directions of precision medicine in lung cancer screening, emphasizing the need for interdisciplinary collaboration and population-specific strategies to realize its full potential in reducing the global burden of lung cancer. Full article

(This article belongs to the Special Issue Lung Cancer: Screening, Diagnosis and Management: 2nd Edition)

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13 pages, 484 KiB

Open AccessArticle

Quantitative Analysis of Diagnostic Reasoning Using Initial Electronic Medical Records

by Shinya Takeuchi, Yoshiyasu Okuhara and Yutaka Hatakeyama

Diagnostics 2025, 15(12), 1561; https://doi.org/10.3390/diagnostics15121561 - 18 Jun 2025

Viewed by 201

Abstract

Background/Objectives: Diagnostic reasoning is essential in clinical practice and medical education, yet it often becomes an automated process, making its cognitive mechanisms less visible. Despite the widespread use of electronic medical records, few studies have quantitatively evaluated how clinicians’ reasoning is documented [...] Read more.

Background/Objectives: Diagnostic reasoning is essential in clinical practice and medical education, yet it often becomes an automated process, making its cognitive mechanisms less visible. Despite the widespread use of electronic medical records, few studies have quantitatively evaluated how clinicians’ reasoning is documented in real-world electronic medical records. This study aimed to investigate whether initial electronic medical records contain valuable information for diagnostic reasoning and assess the feasibility of using text analysis and logistic regression to make this reasoning process visible. Methods: We conducted a retrospective analysis of initial electronic medical records at Kochi University Hospital between 2008 and 2022. Two patient cohorts presenting with dizziness and headaches were analysed. Text analysis was performed using GiNZA, a Japanese natural language processing library, and logistic regression analyses were conducted to identify associations with final diagnoses. Results: We identified 1277 dizziness cases, of which 248 were analysed, revealing 48 significant diagnostic terms. Moreover, we identified 1904 headache cases, of which 616 were analysed, revealing 46 significant diagnostic terms. The logistic regression analysis demonstrated that the presence of specific terms, as well as whether they were expressed affirmatively or negatively, was significantly associated with diagnostic outcomes. Conclusions: Initial EMRs contain quantifiable linguistic cues relevant to diagnostic reasoning. Even simple analytical methods can reveal reasoning patterns, offering valuable insights for medical education and supporting the development of explainable diagnostic support systems. Full article

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

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19 pages, 2826 KiB

Open AccessArticle

18F-FDG PET/CT Impact on Malignant Melanoma Patients Undergoing Staging and Restaging: A Single-University-Center Experience in a Real-World Setting

by Silvija Lucic, Milena Spirovski, Borislava Nikolin, Dragana Stojanovic, Andrea Peter, Branislava Gajic, Vanja Cimbaljevic and Milos A. Lucic

Diagnostics 2025, 15(12), 1560; https://doi.org/10.3390/diagnostics15121560 - 18 Jun 2025

Viewed by 159

Abstract

Background/Objectives: The global increase in the incidence of malignant melanoma, without significant changes in the mortality rate, may be influenced by the changes in the diagnostic approach and criteria, and the impact of innovative therapies on the survival of patients. Advances in treatment [...] Read more.

Background/Objectives: The global increase in the incidence of malignant melanoma, without significant changes in the mortality rate, may be influenced by the changes in the diagnostic approach and criteria, and the impact of innovative therapies on the survival of patients. Advances in treatment options, influencing prolonged survival, are bringing up a strong need for close surveillance of melanoma patients. In this observational, retrospective, and single-center study, we determined the impact of 18F-FDG PET/CT diagnostics on the outcomes and survival of malignant melanoma patients at different stages from an extensive and unselected group in a real-life clinical management setting. Methods: A total number of 189 malignant melanoma patients who underwent 18F-FDG PET/CT examination in the course of the treatment at one university oncology institute during the period from January 2010 to December 2024 were included in the study, and the multifactorial impact on the outcome and survival of malignant melanoma patients was observed in regard to the differences resulting from the therapeutic approaches and the introduction of new therapeutic options and drugs. Results & Conclusions: Our results indicate that 18F-FDG PET/CT is a sensitive imaging tool for the detection of predominantly distant metastases in malignant melanoma patients belonging to an extensive and unselected population in a real-world clinical setting, not only at advanced melanoma stages but also at early stages of high-risk patients’ surveillance. Follow-up appears to be of substantial importance for patients at advanced stages, but also for patients at early stages of disease, in particular in the presence of a strong clinical suspicion. Immunotherapy and combined therapy are improving overall survival in melanoma patients in real-world circumstances and equivalent clinical surroundings. Full article

(This article belongs to the Special Issue Advances in Imaging Diagnosis of Dermatology)

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13 pages, 972 KiB

Open AccessArticle

Association of Serum Selenium with Clinical Features and Inflammatory and Oxidative Stress Markers in Iranian Patients with Metabolic Dysfunction-Associated Steatotic Liver Disease—A Cross-Sectional Study

by Abbas Pishdadian, Reza Sharifi, Adele Shafaghi, Soudabeh Hamedi-Shahraki, Farshad Amirkhizi and Aleksandra Klisic

Diagnostics 2025, 15(12), 1559; https://doi.org/10.3390/diagnostics15121559 - 18 Jun 2025

Viewed by 209

Abstract

Background: There are conflicting epidemiological studies regarding the association between selenium (Se) and metabolic disorders. Furthermore, the pathophysiological links between Se and metabolic dysfunction-associated steatotic liver disease (MASLD) have not yet been fully elucidated. Therefore, we evaluated the association between serum Se [...] Read more.

Background: There are conflicting epidemiological studies regarding the association between selenium (Se) and metabolic disorders. Furthermore, the pathophysiological links between Se and metabolic dysfunction-associated steatotic liver disease (MASLD) have not yet been fully elucidated. Therefore, we evaluated the association between serum Se levels and the clinical features of MASLD and the inflammatory and oxidative stress markers in these patients as potential risk factors for the progression of this disease. Methods: This cross-sectional study involved 150 patients aged 20 to 50 years who were newly diagnosed with MASLD. Oxidative stress was evaluated by measuring serum thiobarbituric acid reactive substances (TBARS), total antioxidant capacity (TAC), and the activities of erythrocyte superoxide dismutase (SOD) and glutathione peroxidase (GPx). Tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and transforming growth factor beta (TGF-β) were measured as inflammatory markers. A one-way analysis of variance (ANOVA), Pearson chi-square test, Kruskal–Wallis test, and multiple linear regression were employed for data analysis. Results: We observed a significant inverse association between serum Se concentrations and liver steatosis severity in the participants. There was a significant decrease in serum concentrations of insulin and the homeostasis model assessment of insulin resistance (HOMA-IR), triglycerides, TNF-α, and TBARS with ascending quartiles of serum Se. Conversely, the mean serum levels of TAC and erythrocyte GPx activities exhibited a consistent increasing trend in relation to rising serum Se concentrations. However, no significant trends were identified for serum FSG, IL-6, TGF-β, or erythrocyte SOD activities across the varying levels of serum Se. Conclusions: Our results demonstrate that decreased serum selenium levels in Iranian patients with MASLD correlate with elevated inflammatory markers, increased oxidative stress, and more severe liver steatosis. Full article

(This article belongs to the Special Issue Diagnosis and Management of Liver Diseases and Inflammatory Bowel Diseases)

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16 pages, 3367 KiB

Open AccessArticle

Sound Localization Training and Induced Brain Plasticity: An fMRI Investigation

by Ranjita Kumari, Sukhan Lee, Pradeep Kumar Anand and Jitae Shin

Diagnostics 2025, 15(12), 1558; https://doi.org/10.3390/diagnostics15121558 - 18 Jun 2025

Viewed by 206

Abstract

Background/Objectives: Neuroimaging techniques have been increasingly utilized to explore neuroplasticity induced by various training regimens. Magnetic resonance imaging (MRI) enables to study these changes non-invasively. While visual and motor training have been widely studied, less is known about how auditory training affects brain [...] Read more.

Background/Objectives: Neuroimaging techniques have been increasingly utilized to explore neuroplasticity induced by various training regimens. Magnetic resonance imaging (MRI) enables to study these changes non-invasively. While visual and motor training have been widely studied, less is known about how auditory training affects brain activity. Our objective was to investigate the effects of sound localization training on brain activity and identify brain regions exhibiting significant changes in activation pre- and post-training to understand how sound localization training induces plasticity in the brain. Method: Six blindfolded participants each underwent 30-minute sound localization training sessions twice a week for three weeks. All participants completed functional MRI (fMRI) testing before and after the training. Results: fMRI scans revealed that sound localization training led to increased activation in several cortical areas, including the superior frontal gyrus, superior temporal gyrus, middle temporal gyrus, parietal lobule, precentral gyrus, and postcentral gyrus. These regions are associated with cognitive processes such as auditory processing, spatial working memory, planning, decision-making, error detection, and motor control. Conversely, a decrease in activation was observed in the left middle temporal gyrus, a region linked to language comprehension and semantic memory. Conclusions: These findings suggest that sound localization training enhances neural activity in areas involved in higher-order cognitive functions, spatial attention, and motor execution, while potentially reducing reliance on regions involved in basic sensory processing. This study provides evidence of training-induced neuroplasticity, highlighting the brain’s capacity to adapt through targeted auditory training intervention. Full article

(This article belongs to the Special Issue Brain MRI: Current Development and Applications)

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8 pages, 169 KiB

Open AccessEditorial

Revolutionizing Medical Imaging: The Transformative Role of Artificial Intelligence in Diagnostics and Treatment

by Daniele Giansanti

Diagnostics 2025, 15(12), 1557; https://doi.org/10.3390/diagnostics15121557 - 18 Jun 2025

Viewed by 274

Abstract

The field of medical imaging is undergoing a significant transformation, driven by the rapid integration of artificial intelligence (AI) into clinical workflows and research methodologies [...] Full article

(This article belongs to the Special Issue Artificial Intelligence in Clinical Medical Imaging: 2nd Edition)

11 pages, 279 KiB

Open AccessArticle

Can We Determine Osteoarthritis Severity Based on Systemic Immuno-Inflammatory Index?

by Bilge Kagan Yilmaz, Recep Altin and Alper Sari

Diagnostics 2025, 15(12), 1556; https://doi.org/10.3390/diagnostics15121556 - 18 Jun 2025

Viewed by 183

Abstract

Background: Osteoarthritis (OA) is one of the common joint diseases. Hematologic markers have been investigated to determine its severity and predict the prognosis of joint diseases. In this study, we investigated whether the systemic immune-inflammatory index (SII) is a marker for assessing the [...] Read more.

Background: Osteoarthritis (OA) is one of the common joint diseases. Hematologic markers have been investigated to determine its severity and predict the prognosis of joint diseases. In this study, we investigated whether the systemic immune-inflammatory index (SII) is a marker for assessing the severity of OA. Methods: The records of patients diagnosed with OA at various stages between 1 January 2020 and 1 January 2022 were retrospectively analyzed. Patients aged 18–75 years with complete blood count within the last 15 days and not taking anti-inflammatory drugs were included in the study. Patients were classified according to the Kellgren–Lawrance classification as stage 1-2-3 mild to moderate OA (Group I) and stage 4 severe OA (Group II). A total of 1580 patients were diagnosed with knee OA and 946 were included in the study. Of the patients, 246 (26%) were male and 700 (74%) were female. The mean age of the patients was 61.00 (53.00–68.00) years. Results: There were 449 (47.5%) patients in Group I and 497 (52.5%) patients in Group II. Statistically significant differences were found between the groups in age, gender, hemoglobin, lymphocytes, and SII (p < 0.05). An SII value of 627.9 was found to distinguish severe OA from mild–moderate OA with 42.5% sensitivity and 70.6% specificity. Conclusions: Although this study is the first in the literature, it shows that SII has limited predictive value in assessing the severity of knee OA. Future research should focus on longitudinal studies to establish causality and explore therapeutic implications. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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23 pages, 8524 KiB

Open AccessArticle

MCM4 as Potential Metastatic Biomarker in Lung Adenocarcinoma

by Hung-Chih Lai, Ju-Fang Liu, Tsung-Ming Chang and Thai-Yen Ling

Diagnostics 2025, 15(12), 1555; https://doi.org/10.3390/diagnostics15121555 - 18 Jun 2025

Viewed by 251

Abstract

Background: Lung adenocarcinoma (LUAD) is the most common subtype of non-small-cell lung cancer and is frequently diagnosed at advanced stages with metastasis, contributing to its poor prognosis. Identifying key metastasis-related biomarkers is critical for improving early diagnosis and therapeutic targeting. Methods: We analyzed [...] Read more.

Background: Lung adenocarcinoma (LUAD) is the most common subtype of non-small-cell lung cancer and is frequently diagnosed at advanced stages with metastasis, contributing to its poor prognosis. Identifying key metastasis-related biomarkers is critical for improving early diagnosis and therapeutic targeting. Methods: We analyzed four GEO microarray datasets (GSE32863, GSE27262, GSE40275, and GSE33356) and TCGA data to identify differentially expressed genes (DEGs) in LUAD. Functional enrichment of DEGs was analyzed using Gene Ontology, Kyoto Encyclopedia of Genes and Genomes analysis, and a Cancer Hallmark Enrichment Plot. Hub gene analysis was conducted using Cytoscape. Hub genes were evaluated for their expression, prognostic significance (via the Kaplan–Meier plotter), and clinical correlation using additional platforms (TCGA, Lung Cancer Explorer, TNMplot, and the Human Protein Atlas). Results: A total of 333 consistently dysregulated DEGs were identified, enriched in pathways related to metastasis, including angiogenesis, immune escape, and ECM interaction. Ten hub genes (AURKA, TOP2A, CCNB2, CENPF, MCM4, TPX2, KIF20A, ASPM, MELK, and NEK2) were identified through network analysis. Among these, MCM4 showed strong upregulation in LUAD and was significantly associated with poor overall survival. Notably, MCM4 expression also correlated with post-progression survival and markers of invasiveness. Immunohistochemistry and transcriptomic analyses confirmed MCM4 overexpression at both mRNA and protein levels. Additionally, MCM4 expression was positively correlated with various matrix metalloproteinases, supporting its role in promoting tumor invasiveness. Conclusions: MCM4 is a novel potential biomarker for LUAD metastasis and prognosis. Its consistent upregulation, association with metastatic markers, and clinical significance suggest it may serve as a candidate target for diagnostic use or therapeutic intervention in advanced LUAD. Full article

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

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10 pages, 2239 KiB

Open AccessCase Report

Amelanotic Melanocytic Nevus of the Oral Cavity: A Case Report and Literature Review

by Rossana Izzetti, Filippo Minuti, Angela Pucci, Chiara Cinquini, Antonio Barone and Marco Nisi

Diagnostics 2025, 15(12), 1554; https://doi.org/10.3390/diagnostics15121554 - 18 Jun 2025

Viewed by 201

Abstract

Amelanotic melanocytic nevi of the oral cavity are uncommon lesions that often present a diagnostic challenge for clinicians, primarily due to their nonspecific clinical appearance and the broad spectrum of possible differential diagnoses. These lesions can mimic a variety of benign and malignant [...] Read more.

Amelanotic melanocytic nevi of the oral cavity are uncommon lesions that often present a diagnostic challenge for clinicians, primarily due to their nonspecific clinical appearance and the broad spectrum of possible differential diagnoses. These lesions can mimic a variety of benign and malignant conditions, requiring precise histopathological confirmation. The primary objective of this article is to present a comprehensive case report—tracing the course from initial presentation through diagnostic workup to final diagnosis—and to provide an overview of the current literature on oral amelanotic melanocytic nevi. We report the case of a 27-year-old female who presented with a small, exophytic mass located in the anterior mandibular gingival region. The lesion was asymptomatic and lacked pigmentation, adding to the diagnostic uncertainty. A range of differential diagnoses was considered, including pyogenic granuloma, peripheral ossifying fibroma, and squamous cell carcinoma. Due to the lesion’s limited size and accessibility, an excisional biopsy was performed under local anesthesia. Histopathological examination revealed an amelanotic melanocytic nevus, a rare variant characterized by the absence of melanin pigment, further complicating the clinical impression. The diagnosis was confirmed through immunohistochemical staining, which demonstrated melanocytic markers consistent with a nevus. The patient was followed up with for six months postoperatively, with no evidence of recurrence or malignant transformation. This case highlights the critical role of biopsy in achieving a definitive diagnosis, especially in lesions with atypical clinical presentations. It also underscores the importance of considering amelanotic melanocytic nevi in the differential diagnosis of nonpigmented oral lesions, as well as maintaining vigilance regarding the rare possibility of amelanotic melanoma. Full article

(This article belongs to the Special Issue New Technologies in Oral Medicine: From Molecular Pathology to Clinical Practice)

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15 pages, 1281 KiB

Open AccessArticle

Anterior Tooth Inclination Between Skeletal Class II and III Malocclusions After Surgical Orthodontic Treatment

by Hiromi Tomaru, Chie Tachiki, Yu Nakamura, Dai Ariizumi, Satoru Matsunaga, Keisuke Sugahara, Akira Watanabe, Akira Katakura and Yasushi Nishii

Diagnostics 2025, 15(12), 1553; https://doi.org/10.3390/diagnostics15121553 - 18 Jun 2025

Viewed by 161

Abstract

Background/Objectives: Anterior tooth inclination plays a critical role in treatment planning for surgical orthodontic cases. However, post-treatment outcomes in patients with jaw deformities often deviate from cephalometric values. This study aimed to compare anterior tooth inclination and skeletal morphology among patients with Class [...] Read more.

Background/Objectives: Anterior tooth inclination plays a critical role in treatment planning for surgical orthodontic cases. However, post-treatment outcomes in patients with jaw deformities often deviate from cephalometric values. This study aimed to compare anterior tooth inclination and skeletal morphology among patients with Class II and Class III malocclusions and to establish reference values for individualized treatment plans. Methods: A total of 122 patients (Class II: n = 40; Class III: n = 41; Class I: n = 41 as a control) were retrospectively analyzed. Cephalometric parameters, including U1 to FH and L1 to MP, were measured pre- and post-treatment. Group differences were analyzed using one-way ANOVA and Tukey’s multiple comparison test. Multiple regression analysis was used to establish prediction models for anterior tooth inclination. The threshold for statistical significance was set at p < 0.05. Results: Post-treatment, upper anterior teeth were more lingually inclined in Class II patients and more labially inclined in Class III patients compared to Class I controls (U1 to FH: Class II, 106.8°; Class III, 120.4°; Class I, 111.1°; p < 0.01). Lower anterior teeth were more lingually inclined in Class III patients compared to Class I patients (L1 to MP: 84.9°; p < 0.01). Regression models demonstrated good predictive value (R² > 0.5) in non-extraction cases. Conclusions: Regression equations developed in this study, alongside the cephalometric averages of Class I individuals, may offer reliable reference values tailored to individual craniofacial morphology, contributing to optimized treatment planning in surgical orthodontic cases. Full article

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

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19 pages, 8503 KiB

Open AccessArticle

The Teacher–Assistant–Student Collaborative and Competitive Network for Brain Tumor Segmentation with Missing Modalities

by Junjie Wang, Huanlan Kang and Tao Liu

Diagnostics 2025, 15(12), 1552; https://doi.org/10.3390/diagnostics15121552 - 18 Jun 2025

Viewed by 204

Abstract

Background: Magnetic Resonance Imaging (MRI) provides rich tumor information through different imaging modalities (T1, T1ce, T2, and FLAIR). Each modality offers distinct contrast and tissue characteristics, which help in the more comprehensive identification and analysis of tumor lesions. However, in clinical practice, [...] Read more.

Background: Magnetic Resonance Imaging (MRI) provides rich tumor information through different imaging modalities (T1, T1ce, T2, and FLAIR). Each modality offers distinct contrast and tissue characteristics, which help in the more comprehensive identification and analysis of tumor lesions. However, in clinical practice, only a single modality of medical imaging is available due to various factors such as imaging equipment. The performance of existing methods is significantly hindered when handling incomplete modality data. Methods: A Teacher–Assistant–Student Collaborative and Competitive Net (TASCCNet) is proposed, which is based on traditional knowledge distillation techniques. First, a Multihead Mixture of Experts (MHMoE) module is developed with multiple experts and multiple gated networks to enhance information from fused modalities. Second, a competitive function is formulated to promote collaboration and competition between the student network and the teacher network. Additionally, we introduce an assistant module inspired by human visual mechanisms to provide supplementary structural knowledge, which enriches the information available to the student and facilitates a dynamic teacher–assistant collaboration. Results: The proposed model (TASCCNet) is evaluated on the BraTS 2018 and BraTS 2021 datasets and demonstrates robust performance even when only a single modality is available. Conclusions: TASCCNet successfully addresses the challenge of incomplete modality data in brain tumor segmentation by leveraging collaborative knowledge distillation and competitive learning mechanisms. Full article

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

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10 pages, 357 KiB

Open AccessArticle

Analysis and Characterization of Factors Affecting the Consistency of Tl-201 Myocardial Perfusion Single-Photon Emission Computed Tomography and Coronary Angiography Results in Patients with Suspected Coronary Artery Disease

by Fu-Ren Tsai, Hung-Pin Chan, Chun-Hao Yin, Jin-Shuen Chen, Yao-Shen Chen and Daniel Hueng-Yuan Shen

Diagnostics 2025, 15(12), 1551; https://doi.org/10.3390/diagnostics15121551 - 18 Jun 2025

Viewed by 198

Abstract

Background/Objectives: Tl-201 myocardial perfusion single-photon emission computed tomography (MPS) is a minimally invasive test for patients with suspected coronary artery disease (CAD). While its predictive and prognostic values are well established, diagnostic performance varies. A recent meta-analysis reported that the sensitivity and specificity [...] Read more.

Background/Objectives: Tl-201 myocardial perfusion single-photon emission computed tomography (MPS) is a minimally invasive test for patients with suspected coronary artery disease (CAD). While its predictive and prognostic values are well established, diagnostic performance varies. A recent meta-analysis reported that the sensitivity and specificity of MPS range from 48.8 to 100% and 46.7 to 94.7%, respectively, reflecting discordance between CAG. Little is known, however, about the influence of patients’ characteristics and CAD risk factors on the diagnostic performance of MPS. This study aims to evaluate these factors in relation to MPS performance. Methods: We screened 4817 consecutive patients referred to our Nuclear Medicine Department in 2015 for Tl-201 MPS. Patients with clinically suspected ischemic heart disease who underwent CAG within 60 days post-MPS were included in the present analysis. The percentage of agreement/disagreement between the MPS-abnormal/normal and CAG-positive/negative groups was evaluated. Additionally, patient characteristics, CAD risk factors, co-morbidities, and single-photon emission computed tomography (SPECT) image-derived parameters were compared among the patients. Results: Among 635 patients with abnormal MPS, 583 had coronary stenosis. For the 52 without stenosis, causes included non-obstructive CAD (34.6%), prior infarction with scarring (32.7%), and imaging artifacts (32.7%). Significant stenosis was associated with older age, male sex, diabetes, dyslipidemia, CKD, and prior PCI, while hypertension and higher BMI were more common in insignificant CAD. Among 104 patients with normal MPS, 79 had stenosis, mainly in the LAD. Clinical risk factors were more prevalent in patients with any degree of stenosis. Conclusions: In patients with an abnormal MPS, the incorporation of visual interpretation, parameters, and CAD risk factors increases specificity and helps differentiate obstructive from non-obstructive CAD. Full article

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

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Graphical abstract

13 pages, 895 KiB

Open AccessArticle

Mobile Phone Auscultation Accurately Diagnoses Chronic Obstructive Pulmonary Disease Using Nonlinear Respiratory Biofluid Dynamics

by Caroline Emily Gosser, Luther Daniel, Martin Huecker, Rodrigo Cavallazzi, Hiram Rivas, Jarred Jeremy Thomas and Ryan Close

Diagnostics 2025, 15(12), 1550; https://doi.org/10.3390/diagnostics15121550 - 18 Jun 2025

Viewed by 194

Abstract

Background/Objectives: Chronic obstructive pulmonary disease (COPD) remains a condition with high morbidity, mortality, and misdiagnosis. The gold standard pulmonary function testing with spirometry has limited availability. This study seeks to test a novel diagnostic test based on auscultatory mapping of pulmonary dynamics. This [...] Read more.

Background/Objectives: Chronic obstructive pulmonary disease (COPD) remains a condition with high morbidity, mortality, and misdiagnosis. The gold standard pulmonary function testing with spirometry has limited availability. This study seeks to test a novel diagnostic test based on auscultatory mapping of pulmonary dynamics. This NIH-funded study aimed to develop a COPD detection technology, using mobile phone auscultation, for situations in which spirometry is not available. Methods: This prospective study collected mobile phone auscultation data on patients presenting for spirometry and evaluation by a pulmonologist. All subjects had same-day or recent (less than 6 months) spirometry in one PFT laboratory. After informed consent, the subjects underwent respiratory auscultation using a selection of mobile phone brands. The auscultation methods included normal breathing observed at the left axillary site and egophony observed at the right supra clavicular fossa. The team created models from the recordings using Time Series Dynamics (TSD), proprietary software that uses computational nonlinear dynamics to characterize the respiratory biofluid dynamics implied by the acoustic data. Results: We enrolled a total of 108 patients (34.3% male), from 19 to 85 years of age (median 61 years). Among the patients, 64 (59.3%) subjects identified as White, 43 (39.8%) as Black, and 1 as Asian. Among the two cohorts with diverse comorbidities, 52 subjects had confirmed COPD and 56 did not. The cohorts differed significantly in age and body mass index, but not in race, number of comorbidities, or COPD assessment test scores. They had significant differences in forced expiratory volume in 1 s (FEV1), the FEV1/FVC (forced vital capacity) ratio, but not FVC. The recordings from the egophonic and axillary sites were initially modeled separately and then combined in a single composite model. The modeling produced excellent results with 90%+ AUC and sensitivity in both the test and train sets relative to the gold standard. Conclusions: Evidence suggests that a mobile phone auscultation device can accurately determine COPD diagnosis. In frontline applications where the availability of gold standard pulmonary function testing is limited, the device could improve the detection of COPD, a condition with significant over- and under-diagnosis. Future trials will investigate the ability of patients to self-record. Success would support remote COPD testing using transmitted telehealth recording data, bringing diagnosis to patients in underserved populations. Full article

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

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14 pages, 5444 KiB

Open AccessCase Report

Radiographic and Histopathological Characteristics of Chronic Nonbacterial Osteomyelitis of the Mandible in Pediatric Patients: Case Series

by Mohammed Barayan, Nagla’a Abdel Wahed, Narmin Helal, Hisham Abbas Komo, Durer Iskanderani, Raghd Alansari, Nada A. Alhindi, Azza F. Alhelo, Hanadi Khalifa and Hanadi Sabban

Diagnostics 2025, 15(12), 1549; https://doi.org/10.3390/diagnostics15121549 - 18 Jun 2025

Viewed by 209

Abstract

Background and Clinical Significance: Chronic nonbacterial osteomyelitis (CNO) of the jaw is a rare autoinflammatory bone disorder that primarily affects children and adolescents. Diagnosing CNO of the mandible can be challenging due to its rarity, and the clinical and radiographic findings overlap with [...] Read more.

Background and Clinical Significance: Chronic nonbacterial osteomyelitis (CNO) of the jaw is a rare autoinflammatory bone disorder that primarily affects children and adolescents. Diagnosing CNO of the mandible can be challenging due to its rarity, and the clinical and radiographic findings overlap with those of other bone disorders. Case Presentation: This case series retrospectively presents four female pediatric patients (9–12 years old) diagnosed with mandibular CNO. The patients were treated at King Abdulaziz University Dental Hospital, Jeddah, Saudi Arabia, between 2018 and 2024. Clinical features and radiographic and histopathological findings were evaluated. All cases had mandibular swelling and pain. Radiographic features consistently revealed mixed sclerotic and radiolucent lesions with bone expansion and periosteal reactions. Histopathological findings revealed viable bone interspersed with varying degrees of fibrous tissue. No evidence of bacterial colonies or inflammation was observed. This case series highlights the radiographic and histopathological features of CNO in the mandible of pediatric patients. The mixed radiographic features and variability of histopathological findings combined with the refractory nature of the lesions contribute to diagnostic complexity. Diagnostic challenges include differentiating CNO from other inflammatory and fibro-osseous conditions. The presence of recurrent episodes of pain, the formation of subperiosteal bone, periostitis, lysis of the cortical layer, expansion of the mandibular canal, and sterile bone biopsies with nonspecific inflammatory changes were related mainly to CNO. Conclusions: These findings underscore the need for increased awareness and a multidisciplinary approach for accurate diagnosis and management of CNO. Conservative management, particularly in dental cases, avoids prolonged unnecessary use of antibiotics, and the prescription of nonsteroidal anti-inflammatory drugs should be followed. Full article

(This article belongs to the Special Issue Computed Tomography Imaging in Medical Diagnosis, 2nd Edition)

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11 pages, 531 KiB

Open AccessArticle

Effects of Menstrual Cycle on Exercise Treadmill Parameters and Cardiac Troponin Release in Premenstrual Women

by Aysu Oktay, Inanc Torustag, Ferruh Kemal Isman and Mehmet Agirbasli

Diagnostics 2025, 15(12), 1548; https://doi.org/10.3390/diagnostics15121548 - 18 Jun 2025

Viewed by 274

Abstract

Background: The diagnostic accuracy of the exercise treadmill test (ETT) remains suboptimal in premenopausal women. Menstrual cycle phases display hormonal variations and biological effects in premenopausal women. The early and late follicular phases of the menstrual cycle demonstrate nearly four-fold differences in estrogen [...] Read more.

Background: The diagnostic accuracy of the exercise treadmill test (ETT) remains suboptimal in premenopausal women. Menstrual cycle phases display hormonal variations and biological effects in premenopausal women. The early and late follicular phases of the menstrual cycle demonstrate nearly four-fold differences in estrogen levels. Methods: This study assessed the variability in ETT results between the early and late follicular phases in premenopausal women. This study included premenopausal females with regular menstrual cycles and chest pain. As per the study protocol, patients underwent two separate ETTs at the early and late follicular phases of the menstrual cycle. Hormones and high-sensitivity cardiac troponin T (hs-cTnT) were measured. The primary endpoint was the ST segment/heart rate (HR) index. The secondary endpoints were maximum ST/HR slope, ST segment depression, HR and blood pressure (BP) response, exercise capacity, and hs-cTnT change after ETT. Results: False-positive ETT results were common in premenopausal women. The early follicular phase displayed significantly higher hs-cTnT and BP responses to ETT compared to the late follicular phase. This study reports that ETT results are similar between the early and late follicular phases of the menstrual cycle in premenopausal women. Biological variability is observed in the BP and hs-cTnT response to ETT between the two phases. Conclusions: The menstrual cycle phase (early versus late follicular phase) did not affect the ETT results. The consideration of estrogen and hormonal status when evaluating the diagnostic test results can improve our understanding of cardiovascular disease in women. Full article

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

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13 pages, 1265 KiB

Open AccessCommunication

Distinction Between Dysplasia, Malformation, and Deformity—Towards the Proper Diagnosis and Treatment of Hip Development Disorders

by Jacek Dygut and Monika Piwowar

Diagnostics 2025, 15(12), 1547; https://doi.org/10.3390/diagnostics15121547 - 18 Jun 2025

Viewed by 260

Abstract

(1) Background: This publication focuses on processes that disrupt the proper development of the hip. Four pathomechanisms underlying human developmental defects are described in the literature, i.e., dysplasia, malformation, disruption, and deformity. In the case of hip development, arguably the greatest challenge involves [...] Read more.

(1) Background: This publication focuses on processes that disrupt the proper development of the hip. Four pathomechanisms underlying human developmental defects are described in the literature, i.e., dysplasia, malformation, disruption, and deformity. In the case of hip development, arguably the greatest challenge involves confusion between dysplasia and deformity, which often leads to misdiagnosis, incorrect nomenclature, and incorrectly chosen treatment. (2) Methods: A review of the scientific literature was performed. (3) Results: The paper presents a description of hip joint development disorders in the context of their pathomechanisms. An attempt was made to answer the question of whether these disorders are rooted in a primary disorder of tissue growth, resulting in incorrect anatomy, or are the result of anatomical deformations with secondary modifications in tissue structures—of a degenerative or adaptive nature—based on Delpech–Hueter–Volkmann growth and remodeling laws. In addition, the emphasis is placed on the presence of so-called clinically and diagnostically mute cases. We suggest augmenting diagnostic procedures with genetic tests to increase the sensitivity of screening. (4) Conclusions: Based on the arguments, a new division of developmental hip disorders is proposed. Full article

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

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5 pages, 1717 KiB

Open AccessInteresting Images

When a Lump Is Not a Cyst: A Case of Superficial Venous Aneurysm of the Hand Diagnosed with High-Resolution Ultrasound

by Antonio Corvino, Orlando Catalano, Corrado Tagliati, Giulio Cocco, Domenico Tafuri, Fabio Corvino, Marco Fogante and Oriana Simonetti

Diagnostics 2025, 15(12), 1546; https://doi.org/10.3390/diagnostics15121546 - 17 Jun 2025

Viewed by 102

Abstract

Superficial venous aneurysms of the upper extremities are a rare clinical entity, often underdiagnosed and misinterpreted as other soft tissue masses. We present the case of a 28-year-old male patient with a subcutaneous mass on the dorsum of the left hand, diagnosed as [...] Read more.

Superficial venous aneurysms of the upper extremities are a rare clinical entity, often underdiagnosed and misinterpreted as other soft tissue masses. We present the case of a 28-year-old male patient with a subcutaneous mass on the dorsum of the left hand, diagnosed as a superficial venous aneurysm by high-resolution ultrasound using a probe bandwidth of up to 18 MHz, unchanged at three-month Doppler-ultrasound examination. This case highlights the fundamental role of high-frequency ultrasound in the differential diagnosis and conservative management of such lesions. Full article

(This article belongs to the Collection Interesting Images)

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9 pages, 508 KiB

Open AccessArticle

Agreement Between Bioelectrical Impedance Analysis and Ultrasound for Measuring Body Composition in Women with Breast Cancer

by Jared Rosenberg, Jyotsna Natarajan, David J. Carpenter, Chris Peluso, Christie Hilton and Colin E. Champ

Diagnostics 2025, 15(12), 1545; https://doi.org/10.3390/diagnostics15121545 - 17 Jun 2025

Viewed by 131

Abstract

Background/Objectives: Higher percent body fat (BF) is associated with worse outcomes after treatment for breast cancer (BC). While ultrasound (US) imaging is a reliable method for analyzing body composition, it requires trained individuals for utilization. As such, bioelectrical impedance analysis (BIA) has been [...] Read more.

Background/Objectives: Higher percent body fat (BF) is associated with worse outcomes after treatment for breast cancer (BC). While ultrasound (US) imaging is a reliable method for analyzing body composition, it requires trained individuals for utilization. As such, bioelectrical impedance analysis (BIA) has been suggested as an alternative. Therefore, the goal of this study was to compare BIA with US. Methods: Women from three prospective exercise BC studies were analyzed with US and BIA before an exercise intervention. Spearman’s correlation was used as a nonparametric measure to examine bivariate relationships between percent body fat measured by BIA and US. Results: In total, 106 women with BC had their body composition measured using both US and BIA. Despite a strong correlation between the two methods (r = 0.8, p < 0.01), US reported lower mean percent BF vs. BIA (34.6 ± 0.7% vs. 38.0 ± 0.8%, p < 0.01). In a subgroup analysis, concordance was seen in women with a body mass index below (BMI) ≤ 26 kg/m². BIA overreported percent BF compared to US in women with a BMI > 26 kg/m². Conclusions: In women with BC and BMI ≤ 26, US and BIA are in concordance when measuring BF. In women with a BMI > 26, BIA reports a higher BF than US. Overall, there was a strong correlation between modalities, while BMI can be used to guide the utilization of BIA as an alternative to US for assessing body composition. Full article

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

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10 pages, 396 KiB

Open AccessArticle

The Effect of Systemic Inflammation on Newborns: The Prognostic Value of the Aggregate Systemic Inflammation Index (AISI) and Systemic Inflammatory Response Index (SIRI)

by Samet Kırat

Diagnostics 2025, 15(12), 1544; https://doi.org/10.3390/diagnostics15121544 - 17 Jun 2025

Viewed by 135

Abstract

Objective: This study aimed to investigate the prognostic value of two novel systemic inflammatory indices—the Aggregate Systemic Inflammation Index (AISI) and the Systemic Inflammatory Response Index (SIRI)—in predicting preterm delivery and associated neonatal outcomes. Methods: A retrospective, descriptive, cross-sectional study was conducted using [...] Read more.

Objective: This study aimed to investigate the prognostic value of two novel systemic inflammatory indices—the Aggregate Systemic Inflammation Index (AISI) and the Systemic Inflammatory Response Index (SIRI)—in predicting preterm delivery and associated neonatal outcomes. Methods: A retrospective, descriptive, cross-sectional study was conducted using the electronic health records of 1056 pregnant women admitted to a tertiary university hospital between 2020 and 2025. Pregnancies were classified into preterm (n = 528) and term (n = 528) groups. Demographic, obstetric, neonatal, and laboratory data were analyzed. Results: The AISI and SIRI values in the first trimester and at admission were significantly higher in the preterm delivery group than in the term delivery group (p < 0.001). Elevated AISI and SIRI levels correlated with lower 1st- and 5th-minute APGAR scores (p < 0.001) and higher neonatal intensive care unit (NICU) admission rates (35.8% vs. 4.5%; p < 0.001). The AISI cut-offs were 399.2 for preterm delivery (59.7% sensitivity, 59.8% specificity), 558.8 for NICU admission (79.3% sensitivity, 79.2% specificity), 694.0 for RDS (87.8% sensitivity, 87.8% specificity), 602.1 for sepsis (79.6% sensitivity, 79.2% specificity), and 753.8 for congenital pneumonia (81.6% sensitivity, 81.9% specificity). The SIRI cut-offs were 1.7 for preterm delivery (59.1% sensitivity, 58.9% specificity), 2.4 for NICU admission (81.7% sensitivity, 81.6% specificity), 3.1 for RDS (89.0% sensitivity, 89.5% specificity), 3.0 for sepsis (85.8% sensitivity, 85.7% specificity), and 3.4 for congenital pneumonia (85.7% sensitivity, 83.8% specificity). Conclusions: The AISI and SIRI showed significant predictive utility for neonatal morbidity in preterm delivery. The use of these markers in clinical practice may improve neonatal outcomes by enhancing the early diagnosis and management of high-risk pregnancies. Full article

(This article belongs to the Special Issue Advancements in Maternal–Fetal Medicine)

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42 pages, 4411 KiB

Open AccessReview

Machine and Deep Learning for the Diagnosis, Prognosis, and Treatment of Cervical Cancer: A Scoping Review

by Blanca Vazquez, Mariano Rojas-García, Jocelyn Isabel Rodríguez-Esquivel, Janeth Marquez-Acosta, Carlos E. Aranda-Flores, Lucely del Carmen Cetina-Pérez, Susana Soto-López, Jesús A. Estévez-García, Margarita Bahena-Román, Vicente Madrid-Marina and Kirvis Torres-Poveda

Diagnostics 2025, 15(12), 1543; https://doi.org/10.3390/diagnostics15121543 - 17 Jun 2025

Viewed by 218

Abstract

Background/Objectives: Cervical cancer (CC) is the fourth most common cancer among women worldwide. This study explored the use of machine learning (ML) and deep learning (DL) in the prediction, diagnosis, and prognosis of CC. Methods: An electronic search was conducted in the PubMed, [...] Read more.

Background/Objectives: Cervical cancer (CC) is the fourth most common cancer among women worldwide. This study explored the use of machine learning (ML) and deep learning (DL) in the prediction, diagnosis, and prognosis of CC. Methods: An electronic search was conducted in the PubMed, IEEE, Web of Science, and Scopus databases from January 2015 to April 2025 using the search terms ML, DL, and uterine cervical neoplasms. A total of 153 studies were selected in this review. A comprehensive summary of the available evidence was compiled. Results: We found that 54.9% of the studies addressed the application of ML and DL in CC for diagnostic purposes, followed by prognosis (22.9%) and an incipient focus on CC treatment (22.2%). The five countries where most ML and DL applications have been generated are China, the United States, India, Republic of Korea, and Japan. Of these studies, 48.4% proposed a DL-based approach, and the most frequent input data used to train the models on CC were images. Conclusions: Although there are results indicating a promising application of these artificial intelligence approaches in oncology clinical practice, further evidence of their validity and reproducibility is required for their use in early detection, prognosis, and therapeutic management of CC. Full article

(This article belongs to the Special Issue Machine-Learning-Based Disease Diagnosis and Prediction)

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21 pages, 3087 KiB

Open AccessArticle

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders

by Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A. Isaza-Ruget, Jorge I. Vélez, Donald P. Lewis, Hardip Patel and Brett A. Lidbury

Diagnostics 2025, 15(12), 1542; https://doi.org/10.3390/diagnostics15121542 - 17 Jun 2025

Viewed by 784

Abstract

Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been observed, without the identification of mechanisms. Previous studies suggest that genetic [...] Read more.

Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been observed, without the identification of mechanisms. Previous studies suggest that genetic predisposition plays a role, but results are difficult to replicate, with Genome-Wide Association Studies of ME/CFS being challenging due to the relative rareness and heterogeneity of the disorder. Methods: We studied a well-defined Australian patient cohort diagnosed via the International Consensus Criteria, recruited by a specialist ME/CFS clinic. The whole-exome sequences of 77 patients were contrasted against genome variation in the 1000 Genome Project’s genome-matched population. Results: Significant associations with ME/CFS were harboured in genes that belong to the Neuroblastoma Breakpoint Family encoding Olduvai (DUF1220) domains, namely NBPF1 (rs3897177, p-value = 3.15 × 10⁻⁸), NBPF10 (rs1553120233, p-value = 9.262 × 10⁻¹³), and NBPF16 (rs200632836, p-value = 1.04 × 10⁻⁶). Other significantly associated variants were detected in the ATR, RSPH10B, ADGRE5-CD97, and NTRK2 genes, among others. Replication of these results was attempted via a GWAS on raw data from a US cohort, which confirmed shared significant associations with variation identified in the PTPRD, CSMD3, RAPGEF5, DCC, ALDH18A1, GALNT16, UNC79, and NCOA3 genes. Conclusions: These genes are involved in cortical neurogenesis, brain evolution, and neuroblastoma, and have been implicated by several studies in schizophrenia and autism. The sharing of these associations by the two cohorts supports their validity and grants the necessity of future studies to evaluate the implications for ME/CFS aetiology. Full article

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

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15 pages, 2025 KiB

Open AccessArticle

Comparison of ADMIRE, SAFIRE, and Filtered Back Projection in Standard and Low-Dose Non-Enhanced Head CT

by Georg Gohla, Anja Örgel, Uwe Klose, Andreas Brendlin, Malte Niklas Bongers, Benjamin Bender, Deborah Staber, Ulrike Ernemann, Till-Karsten Hauser and Christer Ruff

Diagnostics 2025, 15(12), 1541; https://doi.org/10.3390/diagnostics15121541 - 17 Jun 2025

Viewed by 110

Abstract

Background/Objectives: Iterative reconstruction (IR) techniques were developed to address the shortcomings of filtered back projection (FBP), yet research comparing different types of IR is still missing. This work investigates how reducing radiation dose influences both image quality and noise profiles when using [...] Read more.

Background/Objectives: Iterative reconstruction (IR) techniques were developed to address the shortcomings of filtered back projection (FBP), yet research comparing different types of IR is still missing. This work investigates how reducing radiation dose influences both image quality and noise profiles when using two iterative reconstruction techniques—Sinogram-Affirmed Iterative Reconstruction (SAFIRE) and Advanced Modeled Iterative Reconstruction (ADMIRE)—in comparison to filtered back projection (FBP) in non-enhanced head CT (NECT). Methods: In this retrospective single-center study, 21 consecutive patients underwent standard NECT on a 128-slice CT scanner. Raw data simulated dose reductions to 90% and 70% of the original dose via ReconCT software. For each dose level, images were reconstructed with FBP, SAFIRE 3, and ADMIRE 3. Image noise power spectra quantified objective image noise. Two blinded neuroradiologists scored overall image quality, image noise, image contrast, detail, and artifacts on a 10-point Likert scale in a consensus reading. Quantitative Hounsfield unit (HU) measurements were obtained in white and gray matter regions. Statistical analyses included the Wilcoxon signed-rank test, mixed-effects modeling, ANOVA, and post hoc pairwise comparisons with Bonferroni correction. Results: Both iterative reconstructions significantly reduced image noise compared to FBP across all dose levels (p < 0.001). ADMIRE exhibited superior image noise suppression at low (<0.51 1/mm) and high (>1.31 1/mm) spatial frequencies, whereas SAFIRE performed better in the mid-frequency range (0.51–1.31 1/mm). Subjective scores for overall quality, image noise, image contrast, and detail were higher for ADMIRE and SAFIRE versus FBP at the original dose and simulated doses of 90% and 70% (all p < 0.001). ADMIRE outperformed SAFIRE in artifact reduction (p < 0.001), while SAFIRE achieved slightly higher image contrast scores (p < 0.001). Objective HU values remained stable across reconstruction methods, although SAFIRE yielded marginally higher gray and white matter (WM) attenuations (p < 0.01). Conclusions: Both IR techniques—ADMIRE and SAFIRE—achieved substantial noise reduction and improved image quality relative to FBP in non-enhanced head CT at standard and reduced dose levels on the specific CT system and reconstruction strength tested. ADMIRE showed enhanced suppression of low- and high-frequency image noise and fewer artifacts, while SAFIRE preserved image contrast and reduced mid-frequency noise. These findings support the potential of iterative reconstruction to optimize radiation dose in NECT protocols in line with the ALARA principle, although broader validation in multi-vendor, multi-center settings is warranted. Full article

(This article belongs to the Special Issue Image Quality Assessment Methods in Radiography, Computed Tomography and Magnetic Resonance)

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Open AccessReview

The Importance of Magnetic Resonance Enterography in Monitoring Inflammatory Bowel Disease: A Review of Clinical Significance and Current Challenges

by Roxana Elena Mirică, Teodora Florentina Matură, Eliza Craciun and Dana Pavel

Diagnostics 2025, 15(12), 1540; https://doi.org/10.3390/diagnostics15121540 - 17 Jun 2025

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Abstract

Inflammatory bowel diseases are chronic diseases of the gastrointestinal tract with a growing prevalence worldwide, requiring precise diagnostic and monitoring methods to guide their appropriate treatment. In this context, MRE (Magnetic Resonance Enterography) has become an essential imaging technique as a non-invasive option [...] Read more.

Inflammatory bowel diseases are chronic diseases of the gastrointestinal tract with a growing prevalence worldwide, requiring precise diagnostic and monitoring methods to guide their appropriate treatment. In this context, MRE (Magnetic Resonance Enterography) has become an essential imaging technique as a non-invasive option for the diagnosis of Crohn’s disease and ulcerative colitis in recent years. This method provides detailed information about intestinal inflammation, disease activity, complications, and response to therapy, without the need to expose the patient to ionizing radiation. This study analyzes the advantages of MRE over other imaging methods, as well as its clinical applicability and current challenges. We also discuss future perspectives, including the integration of artificial intelligence and the optimization of protocols for better diagnostic accuracy. Full article

(This article belongs to the Special Issue Novel Imaging Techniques in Infection and Inflammation)

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Diagnostics, Volume 15, Issue 12 (June-2 2025) – 126 articles

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