Diagnostics

50 pages, 438 KiB

Open AccessReview

The Value of Clinical Decision Support in Healthcare: A Focus on Screening and Early Detection

by Hendrik Schäfer, Nesrine Lajmi, Paolo Valente, Alessandro Pedrioli, Daniel Cigoianu, Bernhard Hoehne, Michaela Schenk, Chaohui Guo, Ruby Singhrao, Deniz Gmuer, Rezwan Ahmed, Maximilian Silchmüller and Okan Ekinci

Diagnostics 2025, 15(5), 648; https://doi.org/10.3390/diagnostics15050648 - 6 Mar 2025

Viewed by 250

Abstract

In a rapidly changing technology landscape, “Clinical Decision Support” (CDS) has become an important tool to improve patient management. CDS systems offer medical professionals new insights to improve diagnostic accuracy, therapy planning, and personalized treatment. In addition, CDS systems provide cost-effective options to [...] Read more.

In a rapidly changing technology landscape, “Clinical Decision Support” (CDS) has become an important tool to improve patient management. CDS systems offer medical professionals new insights to improve diagnostic accuracy, therapy planning, and personalized treatment. In addition, CDS systems provide cost-effective options to augment conventional screening for secondary prevention. This review aims to (i) describe the purpose and mechanisms of CDS systems, (ii) discuss different entities of algorithms, (iii) highlight quality features, and (iv) discuss challenges and limitations of CDS in clinical practice. Furthermore, we (v) describe contemporary algorithms in oncology, acute care, cardiology, and nephrology. In particular, we consolidate research on algorithms across diseases that imply a significant disease and economic burden, such as lung cancer, colorectal cancer, hepatocellular cancer, coronary artery disease, traumatic brain injury, sepsis, and chronic kidney disease. Full article

(This article belongs to the Special Issue Trends in In Vitro Diagnostics Paving the Way to Next-Generation Healthcare)

17 pages, 249 KiB

Open AccessReview

Prognostication of Follicular Lymphoma: A Review of Prognostic Scores and Factors

by Ádám Jóna, Evelin Kiss and Árpád Illés

Diagnostics 2025, 15(5), 647; https://doi.org/10.3390/diagnostics15050647 - 6 Mar 2025

Viewed by 263

Abstract

Follicular lymphoma (FL) is an indolent, rarely curable B-cell malignancy with a heterogeneous clinical course. While generally treatable, FL is characterized by remissions and relapses, and its clinical presentation varies widely. Rituximab has revolutionized FL treatment, significantly improving overall survival over the past [...] Read more.

Follicular lymphoma (FL) is an indolent, rarely curable B-cell malignancy with a heterogeneous clinical course. While generally treatable, FL is characterized by remissions and relapses, and its clinical presentation varies widely. Rituximab has revolutionized FL treatment, significantly improving overall survival over the past two decades. Risk assessment typically relies on histological grade, tumor burden, and the Follicular Lymphoma International Prognostic Index, which incorporates factors like age, hemoglobin level, and Ann Arbor stage. However, these indices have limitations in fully capturing the clinical variability of FL. Some patients experience indolent disease for extended periods without requiring treatment, while others present with aggressive forms resistant to standard therapies. This review examines various prognostic factors in FL, including the FLIPI, FLIPI2, PRIMA-PI, and m7-FLIPI. The FLIPI, based on five risk factors, stratifies patients into low-, intermediate-, and high-risk groups. The FLIPI2 incorporates beta2-microglobulin and the longest diameter of the largest involved node, offering improved prognostication. The PRIMA-PI, designed for patients receiving rituximab-containing regimens, uses beta2-microglobulin, bone marrow involvement, and the longest diameter of the largest involved node. The m7-FLIPI integrates mutational status with FLIPI2 parameters, further refining risk stratification. The review also discusses clinical parameters like maximum standardized uptake value on PET/CT and lymphocyte/monocyte ratio as prognostic factors. A high SUVmax and low lymphocyte/monocyte ratio identify high-risk patients. While FL remains incurable, advances in immunochemotherapy and targeted therapies have improved outcomes. This review provides a comprehensive overview of prognostic tools in FL, emphasizing the importance of risk stratification for personalized treatment strategies. Full article

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

16 pages, 14943 KiB

Open AccessArticle

Immunohistochemical Evaluation of the Tumor Immune Microenvironment in Pancreatic Ductal Adenocarcinoma

by Gelu Mihai Breaza, Raluca Maria Closca, Alexandru Cristian Cindrea, Florin Emil Hut, Octavian Cretu, Laurentiu Vasile Sima, Marina Rakitovan and Flavia Zara

Diagnostics 2025, 15(5), 646; https://doi.org/10.3390/diagnostics15050646 - 6 Mar 2025

Viewed by 155

Abstract

Background: Pancreatic ductal adenocarcinoma is an aggressive neoplasm with a complex carcinogenesis process that must be understood through the interactions between tumor cells and tumor microenvironment cells. Methods: This study was retrospective with a chronological extension period of 16 years and [...] Read more.

Background: Pancreatic ductal adenocarcinoma is an aggressive neoplasm with a complex carcinogenesis process that must be understood through the interactions between tumor cells and tumor microenvironment cells. Methods: This study was retrospective with a chronological extension period of 16 years and included 56 cases of pancreatic ductal adenocarcinoma. This study identified, quantified, and correlated the cells of the tumor immune microenvironment in pancreatic ductal adenocarcinoma with major prognostic factors as well as overall survival, using an extensive panel of immunohistochemical markers. Results: Three tumor immunotypes were identified: subtype A (hot immunotype), subtype B (intermediate immunotype), and subtype C (cold immunotype). Patients with immunotype C exhibit considerably higher rates of both pancreatic fistulas and acute pancreatitis. Immunotypes B and C significantly increased the risk of this complication by factors of 3.68 (p = 0.002) and 3.94 (p = 0.001), respectively. The estimated probabilities of fistula formation for each immunotype are as follows: 2.5% for immunotype A, 25% for immunotype B, and 28% for immunotype C. There was a statistically significant difference in median survival times according to tumor immunotype (p < 0.001). Specifically, patients with immunotype C tumors had a median survival time of only 120.5 days, compared to 553.5 days for those with immunotype A and 331.5 for immunotype B tumors. Conclusions: The identification of the immunotype of pancreatic ductal adenocarcinoma can be a predictive factor for the occurrence of complications such as pancreatic fistula as well as for overall survival. Full article

(This article belongs to the Special Issue Diagnosis of Pancreatic Diseases)

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20 pages, 3271 KiB

Open AccessArticle

Fine-Tuned Machine Learning Classifiers for Diagnosing Parkinson’s Disease Using Vocal Characteristics: A Comparative Analysis

by Mehmet Meral, Ferdi Ozbilgin and Fatih Durmus

Diagnostics 2025, 15(5), 645; https://doi.org/10.3390/diagnostics15050645 - 6 Mar 2025

Viewed by 160

Abstract

Background/Objectives: This paper is significant in highlighting the importance of early and precise diagnosis of Parkinson’s Disease (PD) that affects both motor and non-motor functions to achieve better disease control and patient outcomes. This study seeks to assess the effectiveness of machine [...] Read more.

Background/Objectives: This paper is significant in highlighting the importance of early and precise diagnosis of Parkinson’s Disease (PD) that affects both motor and non-motor functions to achieve better disease control and patient outcomes. This study seeks to assess the effectiveness of machine learning algorithms optimized to classify PD based on vocal characteristics to serve as a non-invasive and easily accessible diagnostic tool. Methods: This study used a publicly available dataset of vocal samples from 188 people with PD and 64 controls. Acoustic features like baseline characteristics, time-frequency components, Mel Frequency Cepstral Coefficients (MFCCs), and wavelet transform-based metrics were extracted and analyzed. The Chi-Square test was used for feature selection to determine the most important attributes that enhanced the accuracy of the classification. Six different machine learning classifiers, namely SVM, k-NN, DT, NN, Ensemble and Stacking models, were developed and optimized via Bayesian Optimization (BO), Grid Search (GS) and Random Search (RS). Accuracy, precision, recall, F1-score and AUC-ROC were used for evaluation. Results: It has been found that Stacking models, especially those fine-tuned via Grid Search, yielded the best performance with 92.07% accuracy and an F1-score of 0.95. In addition to that, the choice of relevant vocal features, in conjunction with the Chi-Square feature selection method, greatly enhanced the computational efficiency and classification performance. Conclusions: This study highlights the potential of combining advanced feature selection techniques with hyperparameter optimization strategies to enhance machine learning-based PD diagnosis using vocal characteristics. Ensemble models proved particularly effective in handling complex datasets, demonstrating robust diagnostic performance. Future research may focus on deep learning approaches and temporal feature integration to further improve diagnostic accuracy and scalability for clinical applications. Full article

(This article belongs to the Special Issue Artificial Intelligence and Deep Learning in Clinical Classification and Prediction)

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22 pages, 369 KiB

Open AccessReview

The Role of Epithelial–Mesenchymal Transition in Osteosarcoma Progression: From Biology to Therapy

by Andrei-Valentin Patrașcu, Elena Țarcă, Ludmila Lozneanu, Carmen Ungureanu, Eugenia Moroșan, Diana-Elena Parteni, Alina Jehac, Jana Bernic and Elena Cojocaru

Diagnostics 2025, 15(5), 644; https://doi.org/10.3390/diagnostics15050644 - 6 Mar 2025

Viewed by 196

Abstract

Osteosarcoma (OS) is the most common primary malignant bone tumor, predominantly affecting children, adolescents, and young adults. Epithelial–mesenchymal transition (EMT), a process in which epithelial cells lose their cell–cell adhesion and gain migratory and invasive properties, has been extensively studied in various carcinomas. [...] Read more.

Osteosarcoma (OS) is the most common primary malignant bone tumor, predominantly affecting children, adolescents, and young adults. Epithelial–mesenchymal transition (EMT), a process in which epithelial cells lose their cell–cell adhesion and gain migratory and invasive properties, has been extensively studied in various carcinomas. However, its role in mesenchymal tumors like osteosarcoma remains less explored. EMT is increasingly recognized as a key factor in the progression of osteosarcoma, contributing to tumor invasion, metastasis, and resistance to chemotherapy. This narrative review aims to provide a comprehensive overview of the molecular mechanisms driving EMT in osteosarcoma, highlighting the involvement of signaling pathways such as TGF-β, transcription factors like Snail, Twist, and Zeb, and the role of microRNAs in modulating EMT. Furthermore, we discuss how EMT correlates with poor prognosis and therapy resistance in osteosarcoma patients, emphasizing the potential of targeting EMT for therapeutic intervention. Recent advancements in understanding EMT in osteosarcoma have opened new avenues for treatment, including EMT inhibitors and combination therapies aimed at overcoming drug resistance. By integrating biological insights with clinical implications, this review underscores the importance of EMT as a critical process in osteosarcoma progression and its potential as a therapeutic target. Full article

(This article belongs to the Special Issue Bone Tumours: From Molecular Pathology to Clinical Practice)

20 pages, 944 KiB

Open AccessReview

Cornea Oculomics: A Clinical Blueprint for Extending Corneal Diagnostics and Artificial Intelligence in Systemic Health Insights

by Ryung Lee, Rahul Kumar, Alex Weaver, Ji Hyun Kim, Arriyan Raza, Joshua Ong, Ethan Waisberg and Rahul Pandit

Diagnostics 2025, 15(5), 643; https://doi.org/10.3390/diagnostics15050643 - 6 Mar 2025

Viewed by 259

Abstract

Oculomics is an emerging field that leverages ophthalmic imaging data to identify biomarkers of systemic disease, facilitating early diagnosis and risk stratification. Despite its growing recognition, gaps remain in the literature regarding the clinical applications of oculomics. Various systemic diseases—including metabolic disorders (e.g., [...] Read more.

Oculomics is an emerging field that leverages ophthalmic imaging data to identify biomarkers of systemic disease, facilitating early diagnosis and risk stratification. Despite its growing recognition, gaps remain in the literature regarding the clinical applications of oculomics. Various systemic diseases—including metabolic disorders (e.g., diabetes mellitus), infectious diseases (e.g., COVID-19), neurodegenerative diseases (e.g., dementia), hematologic disorders (e.g., thalassemia), autoimmune conditions (e.g., rheumatoid arthritis), and genetic syndromes (e.g., Fabry disease)—exhibit ocular manifestations detectable through in vivo confocal microscopy and anterior segment optical coherence tomography, among other imaging modalities. Increasing evidence supports the role of corneal imaging in identifying systemic disease biomarkers, a process further enhanced by artificial intelligence-driven analyses. This review synthesizes the current findings on corneal biomarkers of systemic disease, their ophthalmic imaging correlates, and the expanding role of corneal oculomics in translational medicine. Additionally, we explore future directions for integrating oculomics into clinical practice and biomedical research. Full article

(This article belongs to the Special Issue Artificial Intelligence Application in Cornea and External Diseases)

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20 pages, 4466 KiB

Open AccessArticle

by Ho-Ching Yang, Tyler Nguyen, Fletcher A. White, Kelly M. Naugle and Yu-Chien Wu

Diagnostics 2025, 15(5), 642; https://doi.org/10.3390/diagnostics15050642 - 6 Mar 2025

Viewed by 244

Abstract

Background: This study used diffusion tensor imaging (DTI) to detect brain microstructural changes in participants with mild traumatic brain injury (mTBI) who experienced post-traumatic headaches, a common issue that affects quality of life and rehabilitation. Despite its prevalence, the mechanisms behind post-traumatic headache [...] Read more.

Background: This study used diffusion tensor imaging (DTI) to detect brain microstructural changes in participants with mild traumatic brain injury (mTBI) who experienced post-traumatic headaches, a common issue that affects quality of life and rehabilitation. Despite its prevalence, the mechanisms behind post-traumatic headache are not well understood. Methods: Participants were recruited from Level 1 trauma centers, and MRI scans, including T1-weighted anatomical imaging and DTI, were acquired 1 month post-injury. Advanced imaging techniques corrected artifacts and extracted diffusion tensor measures reflecting white-matter integrity. Pain sensitivity assays were collected at 1 and 6 months post-injury, including quantitative sensory testing and psychological assessments. Results: Significant aberrations in axial diffusivity in the forceps major were observed in mTBI participants (n = 12) compared to healthy controls (n = 10) 1 month post-injury (p = 0.02). Within the mTBI group, DTI metrics at 1 month were significantly associated with pain-related and psychological outcomes at 6 months. Statistical models revealed group differences in the right sagittal stratum (p < 0.01), left insula (p < 0.04), and left superior longitudinal fasciculus (p < 0.05). Conclusions: This study shows that DTI metrics at 1 month post-injury are sensitive to mTBI and predictive of chronic pain and psychological outcomes at 6 months. Full article

(This article belongs to the Special Issue Brain/Neuroimaging 2025)

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10 pages, 439 KiB

Open AccessArticle

Relationship Between Thyroid Function Tests and Birth Parameters at 41-Week-And-Above Pregnancies: A Prospective Cohort Study

by Mustafa Can Sivas, Karolin Ohanoglu Cetinel and Ipek Emine Geyikoglu

Diagnostics 2025, 15(5), 641; https://doi.org/10.3390/diagnostics15050641 - 6 Mar 2025

Viewed by 183

Abstract

Background: In the literature, there is no study investigating the relationship between thyroid hormones in pregnancies at 41 weeks and above and the birth timing, labor duration, frequency of fetal distress, premature rupture of membranes (PROM), and maternal hemogram values. Methods: A total [...] Read more.

Background: In the literature, there is no study investigating the relationship between thyroid hormones in pregnancies at 41 weeks and above and the birth timing, labor duration, frequency of fetal distress, premature rupture of membranes (PROM), and maternal hemogram values. Methods: A total of 68 nulliparous pregnant women who were admitted to Basaksehir Cam and Sakura City Hospital with indications of delivery between August 2023 and January 2024, between the ages of 20 and 38 and with no comorbidities, were included in the study. Pregnant women with ≥41 weeks of gestation were classified as the late-term pregnancy group (n = 37), and those between 37 and 38 weeks were classified as the control group (n = 31). The thyrotropin (TSH), free thyroxine (FT4), and hemoglobin levels and relevant parameters were evaluated. Results: The FT4 values of pregnant women diagnosed with fetal distress in the entire population were observed to be statistically significantly lower (p < 0.05). A statistically significant negative linear relationship was detected between the FT4 values of the entire population and the weights of newborns (p < 0.05). It was determined that, as the FT4 values decreased, the newborn weights increased. There was no statistically significant difference between the two groups in terms of the TSH/FT4 values, birth types, labor duration, or postpartum Hb/Htc decrease (p > 0.05). No statistically significant relationship was found between the TSH/FT4 values of the entire population and the diagnosis of PROM, labor duration, or Hb/Htc decrease amount (p > 0.05). Conclusions: TSH/FT4 levels may be important in the mature and late–mature periods of pregnancy. There may be an association between the FT4 levels and the fetal distress risk, type of birth, and newborn weight. Full article

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

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12 pages, 1052 KiB

Open AccessArticle

Predictive Value of the Naples Prognostic Score for One-Year Mortality in NSTEMI Patients Undergoing Selective PCI

by Mesut Gitmez, Evren Ekingen and Sueda Zaman

Diagnostics 2025, 15(5), 640; https://doi.org/10.3390/diagnostics15050640 - 6 Mar 2025

Viewed by 177

Abstract

Objectives: Non-ST-elevation myocardial infarction (NSTEMI) is a common and severe condition that requires rapid and accurate risk assessment and treatment. The Naples prognostic score (NPS) is a novel risk score that integrates nutritional and inflammatory parameters. The aim of this study was to [...] Read more.

Objectives: Non-ST-elevation myocardial infarction (NSTEMI) is a common and severe condition that requires rapid and accurate risk assessment and treatment. The Naples prognostic score (NPS) is a novel risk score that integrates nutritional and inflammatory parameters. The aim of this study was to investigate the NPS as a predictor of one-year mortality in NSTEMI patients undergoing percutaneous coronary intervention (PCI). Methods: This retrospective study included 197 NSTEMI patients who underwent selective PCI from January 2020 to December 2020. The NPS was calculated based on the total cholesterol, serum albumin, neutrophil/lymphocyte ratio, and lymphocyte/monocyte ratio. Patients were categorized into two groups based on their NPS values: Group 1 (NPS 0–2) and Group 2 (NPS 3 or 4). The one-year mortality status of the patients was determined through phone calls or by querying the national death registry system. Results: During the follow-up period, the overall mortality rate was 19.3% (n = 38). The high NPS group exhibited a significantly higher mortality rate compared to the low NPS group, with rates of 33.7% and 8.1%, respectively (p < 0.001). A Cox regression analysis indicated that a high NPS score is an independent predictor of one-year mortality, with a hazard ratio of 4.52 (95% CI: 1.93–10.58; p < 0.001). Conclusions: The NPS is a simple, cheap, and easily accessible tool that can be used for risk stratification and treatment selection in NSTEMI patients. It also highlights the importance of inflammatory and nutritional status in influencing the prognosis of NSTEMI patients. Full article

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

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17 pages, 6079 KiB

Open AccessArticle

Secure Hybrid Deep Learning for MRI-Based Brain Tumor Detection in Smart Medical IoT Systems

by Nermeen Gamal Rezk, Samah Alshathri, Amged Sayed, Ezz El-Din Hemdan and Heba El-Behery

Diagnostics 2025, 15(5), 639; https://doi.org/10.3390/diagnostics15050639 - 6 Mar 2025

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Abstract

Background/Objectives: Brain tumors are among the most aggressive diseases, significantly contributing to human mortality. Typically, the classification of brain tumors is performed through a biopsy, which is often delayed until brain surgery is necessary. An automated image classification technique is crucial for [...] Read more.

Background/Objectives: Brain tumors are among the most aggressive diseases, significantly contributing to human mortality. Typically, the classification of brain tumors is performed through a biopsy, which is often delayed until brain surgery is necessary. An automated image classification technique is crucial for accelerating diagnosis, reducing the need for invasive procedures and minimizing the risk of manual diagnostic errors being made by radiologists. Additionally, the security of sensitive MRI images remains a major concern, with robust encryption methods required to protect patient data from unauthorized access and breaches in Medical Internet of Things (MIoT) systems. Methods: This study proposes a secure and automated MRI image classification system that integrates chaotic and Arnold encryption techniques with hybrid deep learning models using VGG16 and a deep neural network (DNN). The methodology ensures MRI image confidentiality while enabling the accurate classification of brain tumors and not compromising performance. Results: The proposed system demonstrated a high classification performance under both encryption scenarios. For chaotic encryption, it achieved an accuracy of 93.75%, precision of 94.38%, recall of 93.75%, and an F-score of 93.67%. For Arnold encryption, the model attained an accuracy of 94.1%, precision of 96.9%, recall of 94.1%, and an F-score of 96.6%. These results indicate that encrypted images can still be effectively classified, ensuring both security and diagnostic accuracy. Conclusions: The proposed hybrid deep learning approach provides a secure, accurate, and efficient solution for brain tumor detection in MIoT-based healthcare applications. By encrypting MRI images before classification, the system ensures patient data confidentiality while maintaining high diagnostic performance. This approach can empower radiologists and healthcare professionals worldwide, enabling early and secure brain tumor diagnosis without the need for invasive procedures. Full article

(This article belongs to the Special Issue Artificial Intelligence in Brain Diseases)

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10 pages, 650 KiB

Open AccessArticle

Could PTH/Ca Ratio Serve as a New Marker for Evaluating Bone Metabolism in Hemophilia Patients?

by Tuba Ersal, Fazıl Çağrı Hunutlu, Vildan Gürsoy, Ezel Elgün, Şeyma Yavuz, İpek Dal Akkuş, İlayda Baş, Vildan Özkocaman and Fahir Özkalemkaş

Diagnostics 2025, 15(5), 638; https://doi.org/10.3390/diagnostics15050638 - 6 Mar 2025

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Abstract

Background/Objectives: Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity. The parathyroid hormone (PTH)/calcium (Ca) ratio is a cost-effective marker for predicting BMD, highlighting the need for [...] Read more.

Background/Objectives: Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity. The parathyroid hormone (PTH)/calcium (Ca) ratio is a cost-effective marker for predicting BMD, highlighting the need for routine screening and early intervention in this population. Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) and IX (hemophilia B). Patients with hemophilia are at risk of low bone mineral density (BMD). This study aimed to evaluate the prevalence of low BMD, associated risk factors, and raise awareness regarding its significance in hemophilia patients. Methods: We retrospectively assessed bone metabolism in 62 hemophilia patients followed at our center. BMD was evaluated using dual-energy X-ray absorptiometry (DEXA). Additionally, serum levels of 25-OH-D3, alkaline phosphatase, PTH, Ca, phosphor, and creatinine were measured. The PTH/Ca, PTH/25-OH-D3, and Ca×25-OH-D3/PTH ratios were calculated. Results: The median age of the 62 patients with hemophilia included in the study (hemophilia A: 87.1%, hemophilia B: 12.9%) was 37 years (range: 21–66), and all were male. Of these patients, 67.7% (n = 42) had severe, 21% (n = 13) had moderate, and 11.3% (n = 7) had mild hemophilia. A total of 85.5% of patients were on factor prophylaxis, and 75.4% had a target joint. In laboratory analysis, the median 25-OH-D3 level was 13.4 µg/L and 75% patients had 25-OH-D3 deficiency. According to DEXA results, 62.9% had lower than normal BMD. When we divided the patients into normal and low BMD groups according to DEXA results, weight (p = 0.006), height (p = 0.024), factor levels (p = 0.004), PTH (p = 0.010), AST (p = 0.029), and PTH/Ca (p = 0.011) levels were statistically significantly different between the groups. The severity of the disease and the rate of receiving prophylaxis were higher in the group with low BMD (p = 0.015, p = 0.006, respectively). In multivariate analysis, PTH/Ca ratio and weight were found to be independent risk factors for BMD. A linear relationship was found between PTH/Ca ratio and BMD. The optimal cut-off value for PTH/Ca was 6.57, with a selectivity of 65% and specificity of 82%. When we divided the patients into groups according to the cut-off value of 6.57, we found that the probability of low BMD increased approximately 7-fold in the group with PTH/Ca > 6.57 (OR 7.045, 95% CI 1.485–33.42, p = 0.014). There was an inverse association between patient weight and low BMD (p = 0.043). Conclusions: Low BMD is a critical public health concern frequently observed in patients with hemophilia. The study highlights a high rate of low BMD and 25-OH-D3 deficiency in hemophilia patients, with the PTH/Ca ratio shown to be useful in predicting BMD. The PTH/Ca ratio is suggested as an accessible, cost-effective, and practical test for evaluating BMD in hemophilia patients. Full article

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

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12 pages, 458 KiB

Open AccessArticle

Performance Comparison of Two In-House PCR Methods for Detecting Neisseria meningitidis in Asymptomatic Carriers and Antimicrobial Resistance Profiling

by Mekonnen Atimew, Melaku Yidenekachew, Marchegn Yimer, Ashenafi Alemu, Dawit Hailu Alemayehu, Tadelo Wondimagegn, Fitsumbiran Tajebe, Gashaw Adane, Tesfaye Gelanew and Getachew Tesfaye Beyene

Diagnostics 2025, 15(5), 637; https://doi.org/10.3390/diagnostics15050637 - 6 Mar 2025

Viewed by 138

Abstract

Background/Objective: Bacteriological culture has been a widely used method for the detection of meningococcus, but it has low sensitivity and a long turnaround time. Molecular detection targeting capsule transport A (ctrA) gene has been used, but over 16% of meningococcal carriage isolates [...] Read more.

Background/Objective: Bacteriological culture has been a widely used method for the detection of meningococcus, but it has low sensitivity and a long turnaround time. Molecular detection targeting capsule transport A (ctrA) gene has been used, but over 16% of meningococcal carriage isolates lack ctrA, resulting in false-negative reports. The Cu-Zn superoxide dismutase gene (sodC) is specific to N. meningitidis, and is not found in other Neisseria species, making it a useful target for improved detection of non-groupable meningococci without intact ctrA. The primary objective of this study was to evaluate the performance compassion of two in-house PCR methods, sodC gene- and ctrA gene-based PCR assays, for detecting N. meningitidis in asymptomatic carriers. The secondary objective was to assess antimicrobial resistance profiling of N. meningitidis isolates. Methods: The performance of sodC gene-based PCR assay compared to ctrA gene-based PCR for detection of N. meningitidis was evaluated using clinical samples (pharyngeal swabs; n = 137) collected from suspected asymptomatic carriers and culture-confirmed meningococci isolates (n = 49). Additionally, the antimicrobial sensitivity of the 49 isolates against antimicrobial drugs was determined using a disk diffusion test. Result: Of 49 DNA samples from culture-positive N. meningitidis isolates, the sodC gene-based PCR accurately identified all 49, whereas the ctrA gene-based PCR identified only 33 out of 49. Of 137 pharyngeal swabs, the sodC gene-based assay detected N. meningitidis DNA in 105 (76.6%), while the ctrA-based assay detected N. meningitidis DNA in 64 (46.7%). Out of the 49 N. meningitidis isolates, 43 (87.8%) were resistant to amoxicillin, 42 (83.7%) to ampicillin, 32 (65.3%) to trimethoprim–sulfamethoxazole, 22 (44.9%) to ceftazidime, 18 (36.7%) to ceftriaxone, and 7 (15.2%) to meropenem. Additionally, the majority of the isolates, 36 (73.5%), were sensitive to cefepime, 31 (63.3%) to ceftriaxone and meropenem, and 26 (53.1%) to ceftazidime. Conclusions: The findings of this study highlight the necessity of adopting non-capsular sodC-based PCR to replace ctrA in resource-constrained laboratories to improve N. meningitidis detection, and underscore the importance of periodic antimicrobial resistance surveillance to inform and adapt treatment strategies. Full article

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

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11 pages, 1012 KiB

Open AccessArticle

Accuracy of COuGH RefluX Score as a Predictor of Gastroesophageal Reflux Disease (GERD) in Mexican Patients with Chronic Laryngopharyngeal Symptoms: A Cross-Sectional Study

by Javier Ivanovychs Carrillo-Rojas, Salvador Zavala-Villegas, Guadalupe Morales-Osorio, Fausto Daniel García-García, Mauricio González-Navarro, Viridiana Montsserrat Mendoza-Martínez and Nallely Bueno-Hernández

Diagnostics 2025, 15(5), 636; https://doi.org/10.3390/diagnostics15050636 - 6 Mar 2025

Viewed by 230

Abstract

Background/Objectives: Gastroesophageal reflux disease (GERD) is associated with extraesophageal syndromes that require an objective assessment of abnormal acid exposure to establish the diagnosis. The COuGH RefluX score has been proposed as a diagnostic tool for GERD in patients with chronic laryngopharyngeal symptoms. The [...] Read more.

Background/Objectives: Gastroesophageal reflux disease (GERD) is associated with extraesophageal syndromes that require an objective assessment of abnormal acid exposure to establish the diagnosis. The COuGH RefluX score has been proposed as a diagnostic tool for GERD in patients with chronic laryngopharyngeal symptoms. The aim of the study was to evaluate the diagnostic performance of the COuGH RefluX score in the Mexican population. Methods: A cross-sectional study was conducted in patients with chronic laryngopharyngeal symptoms. Patients with cough, globus, sore throat, dysphonia, and/or throat clearing of ≥8 weeks duration, 24 h pH-impedance monitoring (pH-IM), and without objective evidence of GERD (defined as acid exposure time >6%) were included in the study. The COuGH RefluX score tool was applied and stratified as low probability with ≤2.5 points, intermediate probability with 3.0 to 4.5 points, and high probability with ≥5.0 points. The kappa test assessed the concordance between both tests; the area under the curve (AUR), sensitivity (S), specificity (E), positive predictive value (PPV), and negative predictive value (NPV) were calculated for each result. Results: 164 patients were included; the prevalence of GERD by pH-IM was 32% vs. 40.3% by COuGH RefluX score, the agreement was weak (κ = 0.34; p < 0.001), but the AUR was good (0.720 ± 0.17; p < 0.001). A score ≤ 2.5 had S = 49%, E = 88%, PPV = 89%, and NPV = 42% to rule out proven GERD, while a score ≥ 5 had S = 65%, E = 71%, PPV = 52%, and NPV = 82% for proven GERD. Conclusions: The COuGH RefluX score has low sensitivity but adequate specificity for GERD diagnosis in Mexican patients with chronic laryngopharyngeal symptoms. Full article

(This article belongs to the Special Issue Clinical Diagnosis of Otorhinolaryngology)

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18 pages, 1411 KiB

Open AccessArticle

Comparing ChatGPT 4.0’s Performance in Interpreting Thyroid Nodule Ultrasound Reports Using ACR-TI-RADS 2017: Analysis Across Different Levels of Ultrasound User Experience

by Katharina Margherita Wakonig, Simon Barisch, Leonard Kozarzewski, Steffen Dommerich and Markus Herbert Lerchbaumer

Diagnostics 2025, 15(5), 635; https://doi.org/10.3390/diagnostics15050635 - 6 Mar 2025

Viewed by 209

Abstract

Background/Objectives: This study evaluates ChatGPT 4.0’s ability to interpret thyroid ultrasound (US) reports using ACR-TI-RADS 2017 criteria, comparing its performance with different levels of US users. Methods: A team of medical experts, an inexperienced US user, and ChatGPT 4.0 analyzed 100 fictitious thyroid [...] Read more.

Background/Objectives: This study evaluates ChatGPT 4.0’s ability to interpret thyroid ultrasound (US) reports using ACR-TI-RADS 2017 criteria, comparing its performance with different levels of US users. Methods: A team of medical experts, an inexperienced US user, and ChatGPT 4.0 analyzed 100 fictitious thyroid US reports. ChatGPT’s performance was assessed for accuracy, consistency, and diagnostic recommendations, including fine-needle aspirations (FNA) and follow-ups. Results: ChatGPT demonstrated substantial agreement with experts in assessing echogenic foci, but inconsistencies in other criteria, such as composition and margins, were evident in both its analyses. Interrater reliability between ChatGPT and experts ranged from moderate to almost perfect, reflecting AI’s potential but also its limitations in achieving expert-level interpretations. The inexperienced US user outperformed ChatGPT with a nearly perfect agreement with the experts, highlighting the critical role of traditional medical training in standardized risk stratification tools such as TI-RADS. Conclusions: ChatGPT showed high specificity in recommending FNAs but lower sensitivity and specificity for follow-ups compared to the medical student. These findings emphasize ChatGPT’s potential as a supportive diagnostic tool rather than a replacement for human expertise. Enhancing AI algorithms and training could improve ChatGPT’s clinical utility, enabling better support for clinicians in managing thyroid nodules and improving patient care. This study highlights both the promise and current limitations of AI in medical diagnostics, advocating for its refinement and integration into clinical workflows. However, it emphasizes that traditional clinical training must not be compromised, as it is essential for identifying and correcting AI-driven errors. Full article

(This article belongs to the Special Issue The Role of AI in Ultrasound)

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11 pages, 389 KiB

Open AccessArticle

The Efficiency, Predictability and Safety Between Custom-Q Femotsecond Laser In Situ Keratomileusis and Second (Visumax 800) Generation Keratorefractive Lenticule Extraction Surgery

by Chia-Yi Lee, Shun-Fa Yang, Ie-Bin Lian, Hung-Chi Chen, Jing-Yang Huang and Chao-Kai Chang

Diagnostics 2025, 15(5), 634; https://doi.org/10.3390/diagnostics15050634 - 5 Mar 2025

Viewed by 179

Abstract

Background/Objectives: To evaluate the postoperative outcomes between the second-generation keratorefractive lenticule extraction (KLEx) surgery and femtosecond laser in situ keratomileusis (FS-LASIK). Methods: A retrospective cohort study was conducted and subjects received second-generation KLEx and FS-LASIK surgeries were enrolled. A total of [...] Read more.

Background/Objectives: To evaluate the postoperative outcomes between the second-generation keratorefractive lenticule extraction (KLEx) surgery and femtosecond laser in situ keratomileusis (FS-LASIK). Methods: A retrospective cohort study was conducted and subjects received second-generation KLEx and FS-LASIK surgeries were enrolled. A total of 124 and 102 eyes were selected into the second-generation KLEx and FS-LASIK groups after exclusion. The primary outcomes were the postoperative uncorrected distance visual acuity (UDVA), spherical equivalent (SE), amount of astigmatism, and best-correct visual acuity (BCVA). The independent t-test was applied to compare the primary outcomes between groups. Results: The mean UDVA three months postoperatively showed insignificant differences between the two groups (p = 0.999). At the final visit, there were 113 (91.12%) and 96 (94.12%) subjects who reached UDVA 20/20 in the FS-LASIK and second-generation KLEx groups and the difference was statistically insignificant (p = 0.455), and the second-generation KLEx group illustrated a higher UDVA improvement (p = 0.046). The SE three months postoperatively showed insignificant difference between groups, whether the absolute value or the ratio of SE within ±0.50 D or ±1.00 D (all p > 0.05). The vector analysis indicated that the difference vector (DV) was significantly lower in the second-generation KLEx group (p = 0.033). The ratio of loss of more than 1 line BCVA showed insignificant differences between the two groups (all p > 0.05). In addition, the risk of postoperative dry eye disease (DED) was significantly higher in the FS-LASIK group (p = 0.031). Conclusions: The efficiency and predictability between second-generation KLEx and FS-LASIK surgeries are similar, while more DED occurred after FS-LASIK surgery. Full article

(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)

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13 pages, 1342 KiB

Open AccessArticle

Comparative Analysis and Validation of the IMPEDED VTE, IMPEDE VTE, and SAVED Risk Models in Predicting Venous Thromboembolism in Multiple Myeloma Patients: A Retrospective Study in Türkiye

by Vildan Gursoy, Mehmet Baysal, Sevil Sadri, Fazil Cagri Hunutlu, Tuba Ersal, Ozgur Omer Gul, Elif Kose, Esra Celik, Serap Baysal, Tuğba Gullu Koca, Sinem Cubukcu, Ezel Ergun, Seyma Yavuz, Vildan Ozkocaman and Fahir Ozkalemkas

Diagnostics 2025, 15(5), 633; https://doi.org/10.3390/diagnostics15050633 - 5 Mar 2025

Viewed by 207

Abstract

Background: Several thrombotic risk assessment models have been proposed for identifying patients with a high risk of thrombosis (the IMPEDE venous thromboembolism (VTE), SAVED, and PRISM scores) in multiple myeloma (MM). Recently, adding a biomarker (D-dimer) for the IMPEDE VTE score has shown [...] Read more.

Background: Several thrombotic risk assessment models have been proposed for identifying patients with a high risk of thrombosis (the IMPEDE venous thromboembolism (VTE), SAVED, and PRISM scores) in multiple myeloma (MM). Recently, adding a biomarker (D-dimer) for the IMPEDE VTE score has shown that it can boost the detection power of IMPEDED VTE. However, data from studies comparing these models in MM are scarce. Even real-world data arguing the utility of thrombotic risk assessment models in MM from low- or middle-income countries like Türkiye are lacking. Methods: We aimed to show the possibility of detecting VTE using the IMPEDED VTE score in our cohort by retrospectively screening MM patients. Therefore, we aimed to compare the IMPEDE VTE, SAVED and IMPEDED VTE scoring models. Results: We conducted a retrospective analysis of 455 MM patients from three centers in Bursa, Türkiye, evaluating the incidence of VTE within six months of the treatment. The IMPEDED VTE score showed superior predictive accuracy (c-statistic of 0.701), compared to the IMPEDE VTE (0.618) and SAVED (0.633) scores, demonstrating the added value of D-dimer as a biomarker. The cumulative incidence of VTE in the cohort was 10.7%, comparable to rates observed in real-world studies. Conclusions: Despite the interventions and thrombotic risk assessment models, thrombosis remains a high-risk entity. Personalized risk assessment tools, such as IMPEDED VTE, could be used to manage thrombotic risk in MM patients, particularly in resource-limited settings. Albeit the thromboprophylaxis (51.6%), our findings support the utility of biomarker-enhanced models for better VTE-risk stratification, particularly in resource-limited settings. Full article

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

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16 pages, 818 KiB

Open AccessArticle

A Cross-Sectional Comparative Study: Could Asprosin and Peptide Tyrosine-Tyrosine Be Used in Schizophrenia to Define the Disease and Determine Its Phases?

by Elif Özcan Tozoğlu, Nilifer Gürbüzer, Alev Lazoğlu Özkaya and Sümeyya Akyıldırım

Diagnostics 2025, 15(5), 632; https://doi.org/10.3390/diagnostics15050632 - 5 Mar 2025

Viewed by 165

Abstract

Background/Objectives: We aimed to evaluate asprosin and peptide tyrosine–tyrosine (PYY) levels in schizophrenia patients and the relationships between these levels and clinical severity, as well as whether these two hormones have a role in determining the disease and/or the phases of the [...] Read more.

Background/Objectives: We aimed to evaluate asprosin and peptide tyrosine–tyrosine (PYY) levels in schizophrenia patients and the relationships between these levels and clinical severity, as well as whether these two hormones have a role in determining the disease and/or the phases of the disease. Methods: This study included 50 patients with schizophrenia in the remission phase, 50 in the acute phase, and 50 controls. The Positive and Negative Syndrome Scale (PANSS) was filled out for patients. The patients’ biochemical parameters and asprosin and PYY levels were measured. Results: Levels of asprosin and PYY were significantly different in all three groups (p < 0.001, p < 0.001). In the remission phase group, asprosin levels had a negative effect on PANSS general symptomatology scores (p: 0.002, p < 0.001). In the acute phase group, while PYY levels showed a negative effect on PANSS general symptomatology scores (p: 0.031), asprosin levels had a negative effect on all subscales of PANSS (p < 0.001). In the acute phase, a one-unit decrease in asprosin levels was associated with a 93% increase in PANSS total scores. The results of the receiver operating characteristic (ROC) analysis to distinguish the acute phase showed that PYY could not be used for diagnosis (p: 0.066), but asprosin was associated with the acute phase of schizophrenia (p < 0.001) and both asprosin and PYY were associated with the disease (p < 0.001, p < 0.001). Conclusions: We think that both asprosin and PYY can be used as potential biomarkers to identify schizophrenia, and only asprosin to identify the phases of the disease. PYY and asprosin levels may be markers that can be used to determine clinical severity. Full article

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

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16 pages, 23268 KiB

Open AccessReview

Current Biomarkers in Non-Small Cell Lung Cancer—The Molecular Pathologist’s Perspective

by Konrad Steinestel and Annette Arndt

Diagnostics 2025, 15(5), 631; https://doi.org/10.3390/diagnostics15050631 - 5 Mar 2025

Viewed by 192

Abstract

Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Advances in tissue-based biomarkers have significantly enhanced diagnostic and therapeutic approaches in NSCLC, enabling precision medicine strategies. This review provides a comprehensive analysis of the molecular pathologist’s practical approach to [...] Read more.

Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Advances in tissue-based biomarkers have significantly enhanced diagnostic and therapeutic approaches in NSCLC, enabling precision medicine strategies. This review provides a comprehensive analysis of the molecular pathologist’s practical approach to assessing NSCLC biomarkers across various specimen types (liquid biopsy, broncho–alveolar lavage, transbronchial biopsy/endobronchial ultrasound-guided biopsy, and surgical specimen), including challenges such as biological heterogeneity and preanalytical variability. We discuss the role of programmed death ligand 1 (PD-L1) immunohistochemistry in predicting immunotherapy response, the practice of histopathological tumor regression grading after neoadjuvant chemoimmunotherapy, and the application of DNA- and RNA-based techniques for detecting actionable molecular alterations. Finally, we emphasize the critical need for quality management to ensure the reliability and reproducibility of biomarker testing in NSCLC. Full article

(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025)

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12 pages, 539 KiB

Open AccessArticle

Bone-Specific Alkaline Phosphatase as a Complementary Diagnostic Marker for the Assessment of Children and Adolescents with Secondary Osteoporosis

by Eunha Bae, Soo Yeun Sim, Su Jin Park, Sung Eun Kim, Seulki Kim, Shin-Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, Min Ho Jung, Byung-Kyu Suh and Moon Bae Ahn

Diagnostics 2025, 15(5), 630; https://doi.org/10.3390/diagnostics15050630 - 5 Mar 2025

Viewed by 102

Abstract

Background/Objective: With increasing cases of osteoporosis in children and adolescents, the need for timely diagnosis, management, and follow-up has become important. This study aimed to determine whether bone turnover markers (BTMs), particularly serum bone-specific alkaline phosphatase (BsALP) and serum C-telopeptide of collagen [...] Read more.

Background/Objective: With increasing cases of osteoporosis in children and adolescents, the need for timely diagnosis, management, and follow-up has become important. This study aimed to determine whether bone turnover markers (BTMs), particularly serum bone-specific alkaline phosphatase (BsALP) and serum C-telopeptide of collagen type 1 (CTx), accurately reflect BMD. Methods: In this retrospective study, 280 post-puberty males and females who were previously diagnosed with hemato-oncologic, rheumatic, gastrointestinal, and endocrinologic diseases at a single tertiary care center were reviewed. The association between the lumbar spine bone mineral density (LSBMD) Z-scores and BTMs, such as BsALP and CTx, were assessed. The LSBMD was measured in the anterior–posterior direction using DXA, and BTMs were determined using the blood samples obtained. Results: Of the 280 patients, 95 were male (33.9%), and the mean age was 15.4

\pm

2.07 years. With multivariate regression analysis, LSBMD Z-scores and BsALP showed a negative correlation with p < 0.007, while CTx was not statistically significant. The logistic regression models showed that after adjusting for underlying diseases and sex, as BsALP increased, the probability of LSBMD Z-score being ≤−2 increased with an odds ratio of 1.043 (p = 0.048). When comparing BTMs with vertebral fracture while adjusting for underlying diseases and sex, as BsALP increased, the probability of vertebral fracture increased with an odds ratio of 1.035 (p = 0.005). Conclusions: The positive correlation between BsALP and LSBMD Z-scores being ≤−2, as well as with vertebral fracture after adjusting for underlying diseases and sex, suggests the possible application of BsALP as a predictor of bone health in patients. Full article

(This article belongs to the Special Issue Diagnosis and Management of Osteoporosis)

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12 pages, 789 KiB

Open AccessArticle

Impact of Preoperative CT-Measured Sarcopenia on Clinical, Pathological, and Oncological Outcomes After Elective Rectal Cancer Surgery

by David Martin, Mathilde Billy, Fabio Becce, Damien Maier, Michael Schneider, Clarisse Dromain, Dieter Hahnloser, Martin Hübner and Fabian Grass

Diagnostics 2025, 15(5), 629; https://doi.org/10.3390/diagnostics15050629 - 5 Mar 2025

Viewed by 137

Abstract

Background: Patients with rectal cancer may be exposed to a loss of muscle strength and quality. This study aimed to assess the role of preoperative CT-based sarcopenia on postoperative clinical, pathological, and oncological outcomes after rectal cancer surgery. Methods: This retrospective monocentric study [...] Read more.

Background: Patients with rectal cancer may be exposed to a loss of muscle strength and quality. This study aimed to assess the role of preoperative CT-based sarcopenia on postoperative clinical, pathological, and oncological outcomes after rectal cancer surgery. Methods: This retrospective monocentric study included patients who underwent elective oncologic resection for rectal adenocarcinoma between 01/2014 and 03/2022. The skeletal muscle index (SMI) was measured using CT at the third lumbar vertebral level, and sarcopenia was defined based on pre-established sex-specific cut-offs. Patients with sarcopenia were compared to those without sarcopenia in terms of outcomes. A Cox proportional hazard regression analysis was used to determine the independent prognostic factors of disease-free survival (DFS) and overall survival (OS). Results: A total of 208 patients were included, and 123 (59%) had preoperative sarcopenia. Patients with sarcopenia were significantly older (66 vs. 61 years, p = 0.003), had lower BMI (24 vs. 28 kg/m², p < 0.001), and were mainly men (76 vs. 48%, p < 0.001). There was no difference in overall and major complication rates between the sarcopenia and non-sarcopenia group (43 vs. 37%, p = 0.389, and 17 vs. 17%, p = 1.000, respectively). Preoperative and postoperative features related to rectal surgery were comparable. The only predictive factor impacting OS was R1/R2 resection (HR 4.915, 95% CI, 1.141–11.282, p < 0.001), while sarcopenia (HR 2.013, 95% CI 0.972–4.173, p = 0.050) and T3/T4 status (HR 2.108, 95% CI 1.058–4.203, p = 0.034) were independently associated with DFS. Conclusions: A majority of patients undergoing rectal cancer surgery had preoperative CT-based sarcopenia. In this cohort, sarcopenia had no impact on postoperative morbidity and OS but was independently associated with DFS. Full article

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

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22 pages, 297 KiB

Open AccessReview

Recent Exploration of Solid Cancer Biomarkers Hidden Within Urine or Blood Exosomes That Provide Fundamental Information for Future Cancer Diagnostics

by Tomoaki Hara, Sikun Meng, Aya Hasan Alshammari, Hideyuki Hatakeyama, Yasuko Arao, Yoshiko Saito, Kana Inoue, Eric di Luccio, Andrea Vecchione, Takaaki Hirotsu and Hideshi Ishii

Diagnostics 2025, 15(5), 628; https://doi.org/10.3390/diagnostics15050628 - 5 Mar 2025

Viewed by 165

Abstract

Cancer cells exhibit abnormal behavior compared to normal cells. They ignore growth arrest signals such as contact inhibition, a mechanism that stops their proliferation when they collide with surrounding cells, and proliferate in an uncontrolled manner, destroying tissue. Early detection and treatment of [...] Read more.

Cancer cells exhibit abnormal behavior compared to normal cells. They ignore growth arrest signals such as contact inhibition, a mechanism that stops their proliferation when they collide with surrounding cells, and proliferate in an uncontrolled manner, destroying tissue. Early detection and treatment of cancer are therefore important for healthy longevity. Cancer cells differ from normal cells in their characteristic gene expression due to their abnormalities. Cancer markers that reflect these characteristics have been searched for and applied to diagnosis. Although analysis of blood antigens has been the main method, further development of a diagnostic system is needed for early detection of cancer. Next-generation sequencers have improved gene expression analysis technology, making it possible to analyze detailed gene expression in cancer cells and nucleic acid molecules in blood or urine. In addition, cancer cells release extracellular vesicles, exosomes, which are known to contain molecules that may serve as cancer markers. This review summarizes the latest findings on exosomal cancer markers. Full article

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

16 pages, 15208 KiB

Open AccessReview

Transperineal Vulvar Ultrasound: A Review of Normal and Abnormal Findings with a Proposed Standardized Methodology

by Nina Montik, Camilla Grelloni, Giovanni Delli Carpini, Jessica Petrucci, Jacopo Di Giuseppe and Andrea Ciavattini

Diagnostics 2025, 15(5), 627; https://doi.org/10.3390/diagnostics15050627 - 5 Mar 2025

Viewed by 196

Abstract

The vulva is a complex anatomical organ that may present with a wide range of pathologies. Even if it can be easily investigated, correctly interpreting vulvar appearance is often challenging. Vulvar ultrasound is an emerging diagnostic technique that may be helpful in different [...] Read more.

The vulva is a complex anatomical organ that may present with a wide range of pathologies. Even if it can be easily investigated, correctly interpreting vulvar appearance is often challenging. Vulvar ultrasound is an emerging diagnostic technique that may be helpful in different aspects of vulvar pathology. We aimed to summarize the state of the art of vulvar ultrasound, provide the necessary theoretical bases of embryology and anatomy, describe the normal and pathological vulvar sonographic characteristics, and propose a feasible and reproducible methodology for vulvar ultrasound. Vulvar sonographic scan should be performed with a linear probe, preferably > 15 mHz, following a standardized methodology. The sonographic appearance of the normal vulva reflects the different histology of its structures and, thus, their embryogenetic origin. The description of a suspected vulvar lesion should include localization, dimensions, volume, type of growth, shape, appearance of the edges, depth of invasion, echogenicity, and identification of vascularization. Cystic dilatation of obstructed Bartolini ducts is the most common benign finding in the vulva (fluctuant structures in the posterior third of the labia majora containing clear mucous fluid). Malignant vulvar lesions appear as hypoechogenic or heterogeneous solid lesions with irregular margins and a high degree of vascularization. Extramammary Paget Disease presents a homogeneous hypoechogenic creeping area in the epidermis due to neoplastic cells typical of this disease. The potential applications of vulvar ultrasound are examining the content of a vulvar swelling to guide its management and assessing the response to medical treatment in the case of lichen sclerosus. In managing patients affected by vulvar malignancies, it may play a critical role in local staging, stromal invasion determination, measuring the distance from the midline, and assessing the eligibility for sentinel lymph node procedure. Vulvar ultrasound is a minimally invasive and economical test that can be performed with minimal equipment. Further studies will be necessary to validate the clinical applications, quantify the diagnostic performance, and evaluate the agreement between operators. Full article

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

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14 pages, 436 KiB

Open AccessArticle

Long-Term Outcomes in Crosslinking Therapy for Patients with Progressive Keratoconus

by Tevfik Serhat Bahar, Vedat Şahin, Yusuf Ayaz and Mustafa Ünal

Diagnostics 2025, 15(5), 626; https://doi.org/10.3390/diagnostics15050626 - 5 Mar 2025

Viewed by 132

Abstract

Background/Objectives: To investigate the mid- and long-term postoperative follow-up results of corneal crosslinking (CXL) treatment (using epi-on and epi-off techniques) in progressive keratoconus. Methods: This was a retrospective single center study conducted between October 2013 and July 2020. Patients who received CXL treatment [...] Read more.

Background/Objectives: To investigate the mid- and long-term postoperative follow-up results of corneal crosslinking (CXL) treatment (using epi-on and epi-off techniques) in progressive keratoconus. Methods: This was a retrospective single center study conducted between October 2013 and July 2020. Patients who received CXL treatment with a diagnosis of progressive keratoconus were included in the study. Preoperative and postoperative recorded examination findings of autorefractometry, visual acuity, endothelial cell counts by specular microscopy, and corneal topography were analyzed retrospectively. According to the latest measurements, the results were divided into two groups: measurements between 6 and 12 months and measurements between 1 and3 years. Results: A total of 290 operated eyes of 201 patients were included in the study. The mean age of the patients was 21.34 ± 5.77 years, and 119 (59.2%) were male. Epi-off CXL was performed on 269 (92.8%) eyes and epi-on procedure was performed on 21 (7.2%) eyes. CXL had no significant effect on visual acuity. Significant improvement was observed in topographic/keratometric features of the cornea both after 6–12 months and after 1–3 years. Significant decreases were observed in K1 (p < 0.001), K2 (p < 0.001), KM (p < 0.001) values compared to the initial level. Conclusions: CXL treatment is an important treatment method in the treatment of keratoconus, preserving visual functions, significantly reducing the severity of astigmatism, and stopping the progression of keratoconus. Additionally, although epi-off and epi-on CXL methods were compared in our study, the sample size was limited, and more comprehensive and long-term studies are needed. Full article

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

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17 pages, 2449 KiB

Open AccessArticle

Comparing and Combining Artificial Intelligence and Spectral/Statistical Approaches for Elevating Prostate Cancer Assessment in a Biparametric MRI: A Pilot Study

by Rulon Mayer, Yuan Yuan, Jayaram Udupa, Baris Turkbey, Peter Choyke, Dong Han, Haibo Lin and Charles B. Simone II

Diagnostics 2025, 15(5), 625; https://doi.org/10.3390/diagnostics15050625 - 5 Mar 2025

Viewed by 110

Abstract

Background: Prostate cancer management optimally requires non-invasive, objective, quantitative, accurate evaluation of prostate tumors. The current research applies visual inspection and quantitative approaches, such as artificial intelligence (AI) based on deep learning (DL), to evaluate MRI. Recently, a different spectral/statistical approach has been [...] Read more.

Background: Prostate cancer management optimally requires non-invasive, objective, quantitative, accurate evaluation of prostate tumors. The current research applies visual inspection and quantitative approaches, such as artificial intelligence (AI) based on deep learning (DL), to evaluate MRI. Recently, a different spectral/statistical approach has been used to successfully evaluate spatially registered biparametric MRIs for prostate cancer. This study aimed to further assess and improve the spectral/statistical approach through benchmarking and combination with AI. Methods: A zonal-aware self-supervised mesh network (Z-SSMNet) was applied to the same 42-patient cohort from previous spectral/statistical studies. Using the probability of clinical significance of prostate cancer (PCsPCa) and a detection map, the affiliated tumor volume, eccentricity was computed for each patient. Linear and logistic regression were applied to the International Society of Urological Pathology (ISUP) grade and PCsPCa, respectively. The R, p-value, and area under the curve (AUROC) from the Z-SSMNet output were computed. The Z-SSMNet output was combined with the spectral/statistical output for multiple-variate regression. Results: The R (p-value)–AUROC [95% confidence interval] from the Z-SSMNet algorithm relating ISUP to PCsPCa is 0.298 (0.06), 0.50 [0.08–1.0]; relating it to the average blob volume, it is 0.51 (0.0005), 0.37 [0.0–0.91]; relating it to total tumor volume, it is 0.36 (0.02), 0.50 [0.0–1.0]. The R (p-value)–AUROC computations showed a much poorer correlation for eccentricity derived from the Z-SSMNet detection map. Overall, DL/AI showed poorer performance relative to the spectral/statistical approaches from previous studies. Multi-variable regression fitted AI average blob size and SCR results at a level of R = 0.70 (0.000003), significantly higher than the results for the univariate regression fits for AI and spectral/statistical approaches alone. Conclusions: The spectral/statistical approaches performed well relative to Z-SSMNet. Combining Z-SSMNet with spectral/statistical approaches significantly enhanced tumor grade prediction, possibly providing an alternative to current prostate tumor assessment. Full article

(This article belongs to the Special Issue Diagnostic Imaging of Prostate Cancer)

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14 pages, 6125 KiB

Open AccessArticle

Learning Architecture for Brain Tumor Classification Based on Deep Convolutional Neural Network: Classic and ResNet50

by Rabei Raad Ali, Noorayisahbe Mohd Yaacob, Marwan Harb Alqaryouti, Ala Eddin Sadeq, Mohamed Doheir, Musab Iqtait, Eko Hari Rachmawanto, Christy Atika Sari and Siti Salwani Yaacob

Diagnostics 2025, 15(5), 624; https://doi.org/10.3390/diagnostics15050624 - 5 Mar 2025

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Abstract

Background: Accurate classification of brain tumors in medical images is vital for effective diagnosis and treatment planning, which improves the patient’s survival rate. In this paper, we investigate the application of Convolutional Neural Networks (CNN) as a powerful tool for enhancing diagnostic accuracy [...] Read more.

Background: Accurate classification of brain tumors in medical images is vital for effective diagnosis and treatment planning, which improves the patient’s survival rate. In this paper, we investigate the application of Convolutional Neural Networks (CNN) as a powerful tool for enhancing diagnostic accuracy using a Magnetic Resonance Imaging (MRI) dataset. Method: This study investigates the application of CNNs for brain tumor classification using a dataset of Magnetic Resonance Imaging (MRI) with a resolution of 200 × 200 × 1. The dataset is pre-processed and categorized into three types of tumors: Glioma, Meningioma, and Pituitary. The CNN models, including the Classic layer architecture and the ResNet50 architecture, are trained and evaluated using an 80:20 training-testing split. Results: The results reveal that both architectures accurately classify brain tumors. Classic layer architecture achieves an accuracy of 94.55%, while the ResNet50 architecture surpasses it with an accuracy of 99.88%. Compared to previous studies and 99.34%, our approach offers higher precision and reliability, demonstrating the effectiveness of ResNet50 in capturing complex features. Conclusions: The study concludes that CNNs, particularly the ResNet50 architecture, exhibit effectiveness in classifying brain tumors and hold significant potential in aiding medical professionals in accurate diagnosis and treatment planning. These advancements aim to further enhance the performance and practicality of CNN-based brain tumor classification systems, ultimately benefiting healthcare professionals and patients. For future research, exploring transfer learning techniques could be beneficial. By leveraging pre-trained models on large-scale datasets, researchers can utilize knowledge from other domains to improve brain tumor classification tasks, particularly in scenarios with limited annotated data. Full article

(This article belongs to the Special Issue Fifth Anniversary of "Machine Learning and Artificial Intelligence in Diagnostics" Section)

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3 pages, 4174 KiB

Open AccessInteresting Images

CT Features of Mallory–Weiss Syndrome

by Romain L’Huillier, Adrien Patenotte and Alexandra Braillon

Diagnostics 2025, 15(5), 623; https://doi.org/10.3390/diagnostics15050623 - 5 Mar 2025

Viewed by 81

Abstract

We report in this clinical case Mallory–Weiss syndrome suspected on computed tomography (CT) and confirmed on endoscopy. Mallory–Weiss syndrome is a rare cause of upper gastrointestinal bleeding from vomiting-induced mucosal laceration(s) at the gastroesophageal junction. The description of Mallory–Weiss Syndrome is rare on [...] Read more.

We report in this clinical case Mallory–Weiss syndrome suspected on computed tomography (CT) and confirmed on endoscopy. Mallory–Weiss syndrome is a rare cause of upper gastrointestinal bleeding from vomiting-induced mucosal laceration(s) at the gastroesophageal junction. The description of Mallory–Weiss Syndrome is rare on imaging and this observation provides CT semiological elements useful in detecting signs of Mallory-Weiss syndrome. Full article

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

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7 pages, 8880 KiB

Open AccessInteresting Images

A Rare Vitreoretinal Degenerative Disorder: Goldmann–Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient

by Klaudia Szala and Bogumiła Wójcik-Niklewska

Diagnostics 2025, 15(5), 622; https://doi.org/10.3390/diagnostics15050622 - 5 Mar 2025

Viewed by 143

Abstract

Goldmann–Favre syndrome (GFS) is a rare vitreoretinal degenerative disorder caused by mutations in the NR2E3 gene located on the short arm of chromosome 15. This condition, inherited in an autosomal recessive manner, was first described by Favre in two siblings, with Ricci later [...] Read more.

Goldmann–Favre syndrome (GFS) is a rare vitreoretinal degenerative disorder caused by mutations in the NR2E3 gene located on the short arm of chromosome 15. This condition, inherited in an autosomal recessive manner, was first described by Favre in two siblings, with Ricci later confirming its hereditary pattern. In GFS, rod photoreceptors are essentially replaced by S-cone photoreceptors. Enhanced S-Cone Syndrome (ESCS) and Goldmann–Favre syndrome are two distinct entities within the spectrum of retinal degenerative diseases, both caused by mutations in the NR2E3 gene. Despite sharing a common genetic basis, these conditions exhibit significantly different clinical phenotypes. ESCS is characterized by an excessive number of S-cones (blue-sensitive cones) with degeneration of rods and L-/M-cones, leading to increased sensitivity to blue light and early-onset night blindness. In contrast, GFS is considered a more severe form of ESCS, involving additional features such as retinal schisis, vitreous degeneration, and more pronounced visual impairment. GFS typically manifests in the first decade of life as night blindness (nyctalopia) and progressive visual acuity impairment. The clinical features include degenerative vitreous changes such as liquefaction, strands, and bands, along with macular and peripheral retinoschisis, posterior subcapsular cataract, atypical pigmentary dystrophy, and markedly abnormal or nondetectable electroretinograms (ERGs). Although peripheral retinoschisis is more common in GFS, central retinoschisis may also occur. Despite the consistent genetic basis, the phenotype of GFS can vary significantly among individuals. The differential diagnosis should consider diseases within the retinal degenerative spectrum, including retinitis pigmentosa, congenital retinoschisis, and secondary pigmentary retinopathy. Full article

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

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15 pages, 2262 KiB

Open AccessArticle

Retrospective Cohort Study: Severe COVID-19 Leads to Permanent Blunted Heart Rate Turbulence

by Mücahid Yılmaz and Çetin Mirzaoğlu

Diagnostics 2025, 15(5), 621; https://doi.org/10.3390/diagnostics15050621 - 5 Mar 2025

Viewed by 67

Abstract

Background: Heart rate turbulence (HRT) is a non-invasive technique that can be used to evaluate autonomic nervous system (ANS) function and cardiac arrhythmia. The objective of this study is to investigate whether COVID-19 can lead to long-term blunted HRT following recovery. Methods: This [...] Read more.

Background: Heart rate turbulence (HRT) is a non-invasive technique that can be used to evaluate autonomic nervous system (ANS) function and cardiac arrhythmia. The objective of this study is to investigate whether COVID-19 can lead to long-term blunted HRT following recovery. Methods: This retrospective cohort study included 253 individuals with a confirmed history of COVID-19, referred to as the recovered COVID-19 group, along with 315 healthy participants who had no history of the virus. The recovered COVID-19 group was categorized into three subgroups based on their chest CT severity scores. The HRT analyses were obtained from a 24-h electrocardiography-Holter recording. Results: This study revealed that the HRT onset value was elevated in the recovered COVID-19 group, while the HRT slope value showed a significant decrease when compared to the control group. Correlation analyses indicated a positive relationship between the chest CT severity score and HRT onset, whereas a negative correlation was observed between the chest CT severity score and HRT slope. Regression analyses identified recovery from severe COVID-19, chest CT severity score, hypertension (HT), and smoking as independent predictors of both abnormal HRT onset and the existence of an abnormal HRT slope. Conclusions: Individuals who have recovered from severe COVID-19 are expected to encounter a permanent blunting of HRT, which is regarded as a significant indicator of an increased risk of ventricular arrhythmias and impaired autonomic nervous system (ANS) function. Recovered severe COVID-19 individuals should be carefully evaluated for HRT with 24-h ECG-Holter. Full article

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

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13 pages, 271 KiB

Open AccessArticle

Development and Assessment of a Multiple-Analysis System for Diagnosing Malaria and Other Blood Parasite Infections in Humans and Non-Human Primates

by Ángela Ceballos-Caro, Víctor Antón-Berenguer, Marta Lanza, Justinn Renelies-Hamilton, Amanda Barciela, Pamela C. Köster, David Carmena, María Flores-Chávez, Emeline Chanove and José Miguel Rubio

Diagnostics 2025, 15(5), 620; https://doi.org/10.3390/diagnostics15050620 - 4 Mar 2025

Viewed by 224

Abstract

Background/Objectives: Many tropical diseases such as malaria, Chagas, human African Trypanosomiasis, and Lymphatic filariasis coexist in endemic countries, affecting more than 1 billion people worldwide, and are recognised as major global vector-borne diseases. Tackling this disease requires an accurate diagnosis that is [...] Read more.

Background/Objectives: Many tropical diseases such as malaria, Chagas, human African Trypanosomiasis, and Lymphatic filariasis coexist in endemic countries, affecting more than 1 billion people worldwide, and are recognised as major global vector-borne diseases. Tackling this disease requires an accurate diagnosis that is sensitive, specific, and rapid. This study aimed to describe and validate a new highly sensitive and specific multiple-analysis system that can effectively detect numerous etiological agents in a single test. Methods: A total of 230 human blood samples were assessed retrospectively for parasite characterisation, as well as 58 stool samples from non-human primates. Primers and probes were designed in the small subunit ribosomal RNA gene, except for Plasmodium spp., for which the novel target was Cytochrome Oxidase Subunit 1. Results: The analytical specificity of the presented method was 100%, with no unspecific amplifications or cross-reactions with other blood parasitic diseases. The detection limit obtained was between 0.6 and 3.01 parasites/µL for Plasmodium species, 1.8 parasites/mL for Trypanosomatidae, and 2 microfilariae/mL in the case of Filariae. The sensitivity, specificity, predictive values, and kappa coefficient reached almost 100%, except for Filariae, whose sensitivity dropped to 93.9% and whose negative predicted value dropped to 89.5%. The operational features described a turnaround and a hands-on time shorter than the compared methods with a lower cost per essay. Conclusions: This work presents a cost-effective and highly sensitive multiplexed tool (RT-PCR-bp) capable of performing simultaneous detection for blood parasitic diseases using specific fluorescence probes, enabling the diagnosis of low parasite loads and coinfections. Full article

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

11 pages, 1507 KiB

Open AccessArticle

HF-Ultrasonography to Quantify Skin Atrophy in Patients with Inflammatory Rheumatic Diseases Treated with Courses of Glucocorticoids

by Antonia Schuster, Andreas Horn, Florian Günther, Martin Fleck, Wolfgang Hartung and Boris Ehrenstein

Diagnostics 2025, 15(5), 619; https://doi.org/10.3390/diagnostics15050619 - 4 Mar 2025

Viewed by 158

Abstract

Background: Prolonged courses of glucocorticoids (GCs) for patients suffering from inflammatory rheumatic diseases (IRDs) are associated with adverse effects. High-frequency ultrasonography (HFUS) has been utilized to quantify skin changes during short-term topical GC treatment. We aimed to quantify skin atrophy in IRD [...] Read more.

Background: Prolonged courses of glucocorticoids (GCs) for patients suffering from inflammatory rheumatic diseases (IRDs) are associated with adverse effects. High-frequency ultrasonography (HFUS) has been utilized to quantify skin changes during short-term topical GC treatment. We aimed to quantify skin atrophy in IRD patients treated systemically with prolonged courses of GCs. Methods: We performed a cross-sectional study comparing patients with IRDs and GC treatment who presented with clinically evident skin atrophy to a matched cohort (1:1) without IRDs and GC treatment. Skinfold measurements, utilizing a standardized caliper, and B-mode HFUS images, utilizing an 18 MHz linear sonography probe, were acquired at back-of-hand, cubital, and dorsal midfoot regions and then compared between both groups. Results: A total of 53 GC-treated IRD patients (33 (62%) women, mean age 66.4 (±10.0) years, GC treatment median 8.0 (1.0–47.0) years) were compared to 53 subjects without IRDs and GC treatment (32 (60%) women, 65.9 (±11.3) years). Skinfold thickness measured at the back of hands [1.7 (±0.4) vs. 2.1 (±0.5) mm, p < 0.001], but not at the cubital [6.7 (±2.7) vs. 7.1 (±3.0) mm] or dorsal midfoot [3.6 (±3.7) vs. 4.1 (±3.4) mm] areas, showed a significant difference between the groups. In comparison, all areas displayed statistically significant different cutaneous thickness in the evaluation by HFUS: hand 0.66 (±0.12) vs. 0.82 (±0.18), p < 0.001; cubital 0.86 (±0.15) vs. 1.00 (±0.21), p < 0.001; and midfoot 0.76 (±0.16) vs. 0.94 (±0.18), p < 0.001. Conclusions: This study revealed significantly lower values in the measured cutaneous thickness by HFUS for GC-treated patients with IRDs compared to persons without IRD and GC treatment. Full article

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

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Diagnostics, Volume 15, Issue 5 (March-1 2025) – 138 articles

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