Diagnostics

13 pages, 1859 KiB

Open AccessArticle

Enhanced Malignancy Prediction of Small Lung Nodules in Different Populations Using Transfer Learning on Low-Dose Computed Tomography

by Jyun-Ru Chen, Kuei-Yuan Hou, Yung-Chen Wang, Sen-Ping Lin, Yuan-Heng Mo, Shih-Chieh Peng and Chia-Feng Lu

Diagnostics 2025, 15(12), 1460; https://doi.org/10.3390/diagnostics15121460 (registering DOI) - 8 Jun 2025

Abstract

Background: Predicting malignancy in small lung nodules (SLNs) across diverse populations is challenging due to significant demographic and clinical variations. This study investigates whether transfer learning (TL) can improve malignancy prediction for SLNs using low-dose computed tomography across datasets from different countries. Methods: [...] Read more.

Background: Predicting malignancy in small lung nodules (SLNs) across diverse populations is challenging due to significant demographic and clinical variations. This study investigates whether transfer learning (TL) can improve malignancy prediction for SLNs using low-dose computed tomography across datasets from different countries. Methods: We collected two datasets: an Asian dataset (669 SLNs from Cathay General Hospital, CGH, Taiwan) and an American dataset (600 SLNs from the National Lung Screening Trial, NLST, America). Initial U-Net models for malignancy prediction were trained on each dataset, followed by the application of TL to transfer model parameters across datasets. Model performance was evaluated using accuracy, specificity, sensitivity, and the area under the receiver operating characteristic curve (AUC). Results: Significant demographic differences (p < 0.001) were observed between the CGH and NLST datasets. Initial models trained on one dataset showed a substantial performance decline of 15.2% to 97.9% when applied to the other dataset. TL enhanced model performance across datasets by 21.1% to 159.5% (p < 0.001), achieving an accuracy of 0.86–0.91, sensitivity of 0.81–0.96, specificity of 0.89–0.92, and an AUC of 0.90–0.97. Conclusions: TL enhances SLN malignancy prediction models by addressing population variations and enabling their application across diverse international datasets. Full article

(This article belongs to the Special Issue AI in Radiology and Nuclear Medicine: Challenges and Opportunities)

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10 pages, 1365 KiB

Open AccessArticle

A Morphometric Evaluation of the Mandibular Condyle, Coronoid Process, and Gonial Angle: Age and Gender Differences in CBCT Imaging

by Mehmet Emin Dogan, Burcu Nur Turkoglu and Ilhan Şengul

Diagnostics 2025, 15(12), 1459; https://doi.org/10.3390/diagnostics15121459 (registering DOI) - 8 Jun 2025

Abstract

Background: It has been suggested that the mandible may differ according to gender. The fact that the mandible and the anatomical structures on it show various changes with age and gender differences is important in gender and age determination. The aim of this [...] Read more.

Background: It has been suggested that the mandible may differ according to gender. The fact that the mandible and the anatomical structures on it show various changes with age and gender differences is important in gender and age determination. The aim of this study was to evaluate the morphometric variation in the condyle and coronoid processes and the gonial angle, which are anatomical structures forming the mandible, with gender and age. Methods: Cone beam CT images of 141 individuals (78 female, 63 male) were used in this study. The images of all patients were obtained with the same X-ray device; the images were obtained at 70 kVp, 10 mA, and a 32 s exposure time in accordance with the manufacturer’s recommendations. Images displayed with 0.3 mm voxel with the IRYS 15.0 program were examined in the axial, sagittal, and coronal planes, and measurements were taken. The gonial angle, coronoid notch, condyle height, condyle–coronoid distance, and sigmoid notch depths were evaluated. Results: The average age of 141 individuals was 43.21 ± 15.96 years, and 55.3% of them were female and 44.7% were male. The mean right gonial angle in females (128.66 ± 5.50°) was significantly higher than in males (125.68 ± 5.10°) (p < 0.005). Similarly, the mean left gonial angle in females (128.84 ± 5.97°) was significantly higher than in males (125.26 ± 4.89°) (p < 0.005). The sigmoid notch depth was found to be greater in men, with an average of 13.88 ± 2.46 mm, while in women, it had an average of 13.13 ± 1.80 mm, and this difference was statistically significant (p < 0.005). The relationship between the two sides’ coronoid notch height, sigmoid notch depth, condyle height, and condyle–coronoid distance and age groups was not statistically significant (p > 0.005). Conclusions: Overall, our findings indicate that the male mandible may have a longer condyle, a narrower gonial angle, and a wider sigmoid notch depth than that of females. It has been observed that ramus measurements such as condyle length and sigmoid notch depth may be important in gender discrimination, and the male mandible exhibits larger values in these parameters. No differences in parameters were observed between age groups. Full article

(This article belongs to the Special Issue Applications of Dentomaxillofacial Diagnostic Imaging in Different Specialties)

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12 pages, 490 KiB

Open AccessReview

Endometriosis and Cardiovascular Disease: Exploring Pathophysiological Interconnections and Risk Mechanisms

by Gabriela Szpila, Julia Szczotka, Alexander Suchodolski and Mariola Szulik

Diagnostics 2025, 15(12), 1458; https://doi.org/10.3390/diagnostics15121458 (registering DOI) - 8 Jun 2025

Abstract

Endometriosis, traditionally viewed as a gynecological disorder, is increasingly recognized as a systemic disease with significant cardiovascular implications. Recent studies suggest that women with endometriosis are at higher risk for developing atherosclerosis and other cardiovascular diseases (CVDs), due to chronic systemic inflammation, endothelial [...] Read more.

Endometriosis, traditionally viewed as a gynecological disorder, is increasingly recognized as a systemic disease with significant cardiovascular implications. Recent studies suggest that women with endometriosis are at higher risk for developing atherosclerosis and other cardiovascular diseases (CVDs), due to chronic systemic inflammation, endothelial dysfunction, oxidative stress, and metabolic disturbances. This review aimed to summarize current evidence on the vascular implications of endometriosis. A literature search was conducted in PubMed and Google Scholar, focusing on studies exploring the relationship between endometriosis and cardiovascular risk. In rare cases, endometriosis can affect extrapelvic locations such as the diaphragm or pericardium, presenting with cyclical chest pain or dyspnea and mimicking cardiopulmonary conditions. These atypical manifestations often delay diagnosis and highlight the need for heightened clinical awareness. Advances in imaging and minimally invasive techniques, including robotic surgery, have improved the detection and management of such presentations. Shared molecular pathways between endometriosis and CVDs, including pro-inflammatory cytokines and metabolic dysregulation, provide a rationale for exploring novel therapeutic approaches. Emerging pharmacologic options such as statins, metformin, or antiplatelet agents may offer dual benefits for both reproductive and cardiovascular health. Given the multifactorial nature of endometriosis, a multidisciplinary approach involving gynecologists, cardiologists, and primary care providers is essential. These findings highlight the need for early cardiovascular risk assessment and tailored preventive strategies in this population. Full article

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

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14 pages, 790 KiB

Open AccessArticle

Role of High Serum Tenascin C Levels as Potential Biomarker of Persistent Inflammation in Patients with Ankylosing Spondylitis Despite Treatment with cs-DMARDS or Anti-TNF Agents

by Alejandro Martelli-Garcia, Yussef Esparza-Guerrero, Heriberto Jacobo-Cuevas, Ana Miriam Saldaña-Cruz, Norma Guadalupe Gonzalez-Montoya, Cesar Arturo Nava-Valdivia, Eli Efrain Gomez-Ramirez, Maria Luisa Vazquez-Villegas, Juan Manuel Ponce-Guarneros, Melissa Ramirez-Villafaña, Norma Alejandra Rodriguez-Jimenez, Alberto Daniel Rocha-Muñoz, Ernesto German Cardona-Muñoz, Jaime Morales-Romero, Laura Gonzalez-Lopez and Jorge Ivan Gamez-Nava

Diagnostics 2025, 15(12), 1457; https://doi.org/10.3390/diagnostics15121457 (registering DOI) - 7 Jun 2025

Abstract

Background/Objectives: Ankylosing spondylitis (AS) is a severe chronic inflammatory rheumatic disease involving the spine, sacroiliacs, and peripheral joints. A lack of therapeutic response leads to severe sequelae. Currently, new markers are being tested to identify patients with poor outcomes. Tenascin C (TNC) is [...] Read more.

Background/Objectives: Ankylosing spondylitis (AS) is a severe chronic inflammatory rheumatic disease involving the spine, sacroiliacs, and peripheral joints. A lack of therapeutic response leads to severe sequelae. Currently, new markers are being tested to identify patients with poor outcomes. Tenascin C (TNC) is involved in triggering some relevant mechanisms of inflammation. Today, it remains unclear whether TNC levels might be useful as a biomarker of persistent activity. The aim of this study was to evaluate in AS whether serum levels of tenascin C are associated with persistent disease activity despite treatment. Methods: We included AS patients who had been treated with conventional synthetic disease-modifying antirheumatic drugs (cs-DMARDS) or anti-TNF agents for at least three months in a cross-sectional study. Response was assessed with the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI); scores ≥ 4 indicate persistent disease activity, while scores < 4 indicate inactive disease. Serum TNC levels, C-reactive protein (CRP) levels, and Erythrocyte Sedimentation Rate (ESR) were determined through the ELISA technique, nephelometry, and the Westergren method, respectively. Results: We evaluated 58 patients with AS (62.1% men); of them, 33 (56.9%) had persistent active disease (BASDAI ≥ 4) despite treatment and 25 (43.1%) had inactive disease (BASDAI < 4). The median TNC level was 18.6 ng/mL. BASDAI correlated with TNC levels (rho: 0.528, p < 0.001), CRP (0.352, p = 0.007), and ESR (0.342, p = 0.009). Patients with persistently active AS had higher serum TNC levels than those with inactive AS (35.2 vs. 6 ng/mL, p < 0.001). No differences in TNC level were found in patients treated with cs-DMARDS vs. anti-TNF agents. The ROC curve for serum tenascin C in active AS patients had an area under the curve = 0.78 (CI 95%: 0.65–0.91) with optimal serum tenascin C cutoff (>13.85 ng/mL). Sensitivity for detecting active AS was higher with TNC compared to ESR and CRP. Conclusions: We suggest that an elevated TNC level may be a useful biomarker of persistent disease activity despite treatment in AS; further studies should investigate the role of TNC levels in predicting the progression of the disease. Full article

(This article belongs to the Special Issue Recent Advances in Clinical Biochemical Testing)

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19 pages, 4293 KiB

Open AccessArticle

Atypical Manifestations of Cowden Syndrome in Pediatric Patients

by Ekaterina Zelenova, Tatiana Belysheva, Elena Sharapova, Irina Barinova, Alexandra Fedorova, Vera Semenova, Yana Vishnevskaya, Irina Kletskaya, Anna Mitrofanova, Denis Sofronov, Ivan Karasev, Denis Romanov, Timur Valiev and Tatiana Nasedkina

Diagnostics 2025, 15(12), 1456; https://doi.org/10.3390/diagnostics15121456 (registering DOI) - 7 Jun 2025

Abstract

Background/Objectives: Cowden syndrome (or PTEN hamartoma tumor syndrome) (CS/PHTS) belongs to a group of inherited disorders associated with the development of multiple hamartomas. The clinical presentation of patients may include dysmorphic facial features, macrocephaly, developmental delay, and multiple benign and malignant tumors of [...] Read more.

Background/Objectives: Cowden syndrome (or PTEN hamartoma tumor syndrome) (CS/PHTS) belongs to a group of inherited disorders associated with the development of multiple hamartomas. The clinical presentation of patients may include dysmorphic facial features, macrocephaly, developmental delay, and multiple benign and malignant tumors of various localizations. At the same time, only thyroid cancer is thought to have an increased risk in childhood. Skin lesions in CS/PHTS occur in 90–100% of patients and include multiple tricholemmoma, papilloma, acral keratosis, pigmentation changes, as well as rarer forms like vascular malformations, fibromas, neuromas, melanoma, and basal cell carcinoma. Methods: Next-generation sequencing and Sanger sequencing were used to search for PTEN genetic variants. A histological and immunohistochemical examination of tumor biopsies and skin lesions was performed. Results: A total of 13 patients from six families with CS/PHTS, including 10 children, were described. Seven pediatric patients belonged to families with paternal transmission of the PTEN pathogenic variants, while three others were de novo cases. Atypical manifestations in CS/PHTS were diffuse large B-cell lymphoma in one adult, a renal cell carcinoma, three germ cell tumors, and a linear epidermal nevus in pediatric patients. A literature review of the identified pathogenic variants in the PTEN gene was performed, assessing their clinical significance and analyzing the traditional and modified diagnostic criteria as applied to the pediatric population. Conclusions: Taking into account the low incidence of CS/PHTS, the data presented significantly expand our current understanding of this disease and guide physicians to consider a wider range of possible malignant neoplasms in pediatric patients with CS/PHTS. Full article

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

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14 pages, 245 KiB

Open AccessArticle

Evaluation of the Performance of Large Language Models in the Management of Axial Spondyloarthropathy: Analysis of EULAR 2022 Recommendations

by Ahmet Usen and Ozlem Kuculmez

Diagnostics 2025, 15(12), 1455; https://doi.org/10.3390/diagnostics15121455 (registering DOI) - 7 Jun 2025

Abstract

Introduction: Guidelines have great importance in revealing complex and chronic conditions such as axial spondyloarthropathy. The aim of this study is to compare the answers given by various large language models to open-ended questions created from ASAS–EULAR 2022 guidance. Materials and Methods [...] Read more.

Introduction: Guidelines have great importance in revealing complex and chronic conditions such as axial spondyloarthropathy. The aim of this study is to compare the answers given by various large language models to open-ended questions created from ASAS–EULAR 2022 guidance. Materials and Methods: This was a cross-sectional and comparative study. A total of 15 recommendations in the ASAS–EULAR 2022 guideline were derived directly from their content into open-ended questions in a clinical context. Each question was asked to the ChatGPT-3.5, GPT-4o, and Gemini 2.0 Flash models, and the answers were evaluated with a seven-point Likert system in terms of usability, reliability, Flesch–Kincaid Reading Ease (FKRE) and Flesch–Kincaid Grade Level (FKGL) metrics for readability, Universal Sentence Encoder (USE) and ROUGE-L for semantic and surface-level similarity. The results of different large language models were statistically compared, and p < 0.05 was revealed as statistically significant. Results: Better FKRE and FKGL scores were obtained in the Google Gemini 2.0 program (p < 0.05). Reliability and usefulness scores were significantly higher for ChatGPT-4o and Gemini 2.0 (p < 0.05). ChatGPT-4o yielded significantly higher semantic similarity scores compared to ChatGPT-3.5 (p < 0.05). There was a negative correlation between FKRE and FKGL scores and a positive correlation between reliability and usefulness scores (p < 0.05). Conclusions: It was determined that ChatGPT-4o and Gemini 2.0 programs gave more reliable, useful, and readable answers to open-ended questions derived from the ASAS–EULAR 2022 guidelines. These programs may potentially assist in supporting treatment decision-making in rheumatology in the future. Full article

(This article belongs to the Special Issue Artificial Intelligence Revolution in Chronic Inflammatory Diseases: Diagnosis, Prognosis, and Future Perspectives)

2 pages, 134 KiB

Open AccessEditorial

Editorial for “Advances in Oral Diseases Diagnosis and Management: 2nd Edition”

by Dimitris Tatsis and Konstantinos Paraskevopoulos

Diagnostics 2025, 15(12), 1454; https://doi.org/10.3390/diagnostics15121454 (registering DOI) - 7 Jun 2025

Abstract

The field of oral disease diagnosis and management has undergone significant transformation in recent years, propelled by innovations in diagnostic technologies, molecular biology, and interdisciplinary clinical approaches [...] Full article

(This article belongs to the Special Issue Advances in Oral Diseases Diagnosis and Management: 2nd Edition)

11 pages, 1940 KiB

Open AccessCase Report

Pituitary Apoplexy in a Child with Short Stature and Possible Recent SARS-CoV-2 Infection

by Carmen Gabriela Barbu, Luminita Nicoleta Cima, Marian Andrei, Simona Vasilache, Mihaela Țarnă, Ileana Olguta Rizea, Carmen Sorina Martin, Anca Elena Sîrbu and Simona Fica

Diagnostics 2025, 15(12), 1453; https://doi.org/10.3390/diagnostics15121453 (registering DOI) - 7 Jun 2025

Abstract

Background and Clinical Significance: Pituitary apoplexy is an extremely rare condition in children and adolescents with a rapid onset due to acute hemorrhage, infarction, or both in the pituitary gland. Most frequently, pituitary apoplexy is an asymptomatic or subclinical entity. Few cases of [...] Read more.

Background and Clinical Significance: Pituitary apoplexy is an extremely rare condition in children and adolescents with a rapid onset due to acute hemorrhage, infarction, or both in the pituitary gland. Most frequently, pituitary apoplexy is an asymptomatic or subclinical entity. Few cases of pituitary apoplexy with concurrent SARS-CoV-2 infection or COVID-19 vaccination have been reported. Case Presentation: We present the case of a 13-year-8-month-old boy who presented in our pediatric endocrinology department for the evaluation of short stature. He was previously diagnosed with secondary hypothyroidism and was treated with levothyroxine. At admission, clinical examination revealed a height of 141 cm (−2.68 SD/−2.4 SD corrected for mid-parental height), normal weight (60th centile), Tanner-stage G2P1, and delayed bone age. Basal IGF1 was normal, but the tests performed to assess the GH reserve confirmed the GH deficiency (peak GH value 3.11 ng/mL after clonidine/0.95 ng/mL after insulin). The brain MRI revealed a subacute pituitary hemorrhage. Thrombophilia and coagulopathies were excluded by further testing. Anti-SARS-CoV-2 (anti-S-protein IgG) antibodies (>200 BAU/mL) were compatible with COVID-19 infection, indicating a possible association between these two entities. At 3-month follow-up, physical examination showed a 3 cm height gain and advancing pubertal development (G4P2). Newer MRI found changes consistent with resolving hemorrhage. The patient was provided immediately with recombinant human GH and aromatase inhibitor therapy to maximize GH treatment response. During follow-up, the rGH dose was adjusted based on IGF1 values, and after 3 years and 10 months, rGH treatment was stopped, reaching a height of 172.3 cm (−0.51 SD) and surpassing the initial prediction of 164.5 cm. Conclusions: Pituitary apoplexy, an even rarer complication in the pediatric population, may be associated with SARS-CoV-2 infection. Further studies are necessary to better understand the intertwining of those conditions. Full article

(This article belongs to the Special Issue Symptoms, Diagnosis, Prognosis and Management of Long COVID or Post-COVID Conditions, 2nd Edition)

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11 pages, 1071 KiB

Open AccessArticle

Functional Outcomes and Activity Levels in Patients After Internal Hemipelvectomy for Primary Sarcoma Involving the Bony Pelvis

by Burkhard Lehner, Jakob Bollmann, Andreas Geisbüsch and Nicholas Andreas Beckmann

Diagnostics 2025, 15(12), 1452; https://doi.org/10.3390/diagnostics15121452 - 6 Jun 2025

Abstract

Background: Internal hemipelvectomies are rare procedures for primary musculoskeletal sarcomas of the bony pelvis. There is a sparse amount of data on functional outcomes and activity levels in postoperative patients. The aim of this study was to investigate functional outcomes, including sport activity [...] Read more.

Background: Internal hemipelvectomies are rare procedures for primary musculoskeletal sarcomas of the bony pelvis. There is a sparse amount of data on functional outcomes and activity levels in postoperative patients. The aim of this study was to investigate functional outcomes, including sport activity levels, and the impact of tumor grade, resection margins, adjuvant therapies, pelvic reconstruction, and patient age at the time of surgery. Methods: Patients who underwent internal hemipelvectomy at our clinic between 1995 and 2019, with a minimum follow-up of 12 months, were assessed using the Musculoskeletal Tumor Society Score (MSTS), the Toronto Extremity Salvage Score (TESS), the Oxford Hip Score (OHS), and the University of Los Angeles Activity Scale (UCLA AS). Results: Our cross-sectional study included 29 patients (14 male, 15 female; 15 with chondrosarcoma, 8 with Ewing’s sarcoma, 2 with osteosarcoma, 2 with chordoma, and 2 with other sarcomas) with a median follow-up of 8.7 years (range: 12 months to 25.4 years; interquartile range (IQR): 13.1 years). The median MSTS was 16 (range: 1–30; IQR: 9), median TESS was 75.8% (range: 12.9–100%; IQR: 31.7%), median OHS was 35 (range: 10–48; IQR: 16), and median UCLA AS was 5 (range: 1–9; IQR: 3). Tumor grade, resection margins, chemotherapy, radiation therapy, and pelvic reconstruction had no significant effect on functional outcomes. Patient age at the time of surgery had a statistically significant effect on all measured outcome parameters, although all parameters exhibited a wide range and large IQR, likely reflecting the small, heterogeneous patient cohort. Conclusions: Surviving patients who underwent internal hemipelvectomy for primary musculoskeletal sarcomas of the pelvic bone demonstrated overall moderate to good functional outcomes and moderate sport activity levels. Full article

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

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19 pages, 447 KiB

Open AccessArticle

Risk of Bias Assessment of Diagnostic Accuracy Studies Using QUADAS 2 by Large Language Models

by Daniel-Corneliu Leucuța, Andrada Elena Urda-Cîmpean, Dan Istrate and Tudor Drugan

Diagnostics 2025, 15(12), 1451; https://doi.org/10.3390/diagnostics15121451 - 6 Jun 2025

Abstract

Background/Objectives: Diagnostic accuracy studies are essential for the evaluation of the performance of medical tests. The risk of bias (RoB) for these studies is commonly assessed using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS) tool. This study aimed to assess the [...] Read more.

Background/Objectives: Diagnostic accuracy studies are essential for the evaluation of the performance of medical tests. The risk of bias (RoB) for these studies is commonly assessed using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS) tool. This study aimed to assess the capabilities and reasoning accuracy of large language models (LLMs) in evaluating the RoB in diagnostic accuracy studies, using QUADAS 2, compared to human experts. Methods: Four LLMs were used for the AI assessment: ChatGPT 4o model, X.AI Grok 3 model, Gemini 2.0 flash model, and DeepSeek V3 model. Ten recent open-access diagnostic accuracy studies were selected. Each article was independently assessed by human experts and by LLMs using QUADAS 2. Results: Out of 110 signaling questions assessments (11 questions for each of the 10 articles) by the four AI models, and the mean percentage of correct assessments of all the models was 72.95%. The most accurate model was Grok 3, followed by ChatGPT 4o, DeepSeek V3, and Gemini 2.0 Flash, with accuracies ranging from 74.45% to 67.27%. When analyzed by domain, the most accurate responses were for “flow and timing”, followed by “index test”, and then similarly for “patient selection” and “reference standard”. An extensive list of reasoning errors was documented. Conclusions: This study demonstrates that LLMs can achieve a moderate level of accuracy in evaluating the RoB in diagnostic accuracy studies. However, they are not yet a substitute for expert clinical and methodological judgment. LLMs may serve as complementary tools in systematic reviews, with compulsory human supervision. Full article

(This article belongs to the Special Issue A New Era in Diagnosis: From Biomarkers to Artificial Intelligence)

18 pages, 821 KiB

Open AccessArticle

Standardisation and Optimisation of Chest and Pelvis X-Ray Imaging Protocols Across Multiple Radiography Systems in a Radiology Department

by Ahmed Jibril Abdi, Kasper Rørdam Jensen, Pia Iben Pietersen, Janni Jensen, Rune Lau Hovgaard, Ask Kristian Aas Holmboe and Sofie Gregersen

Diagnostics 2025, 15(12), 1450; https://doi.org/10.3390/diagnostics15121450 - 6 Jun 2025

Abstract

X-ray imaging protocols in radiology departments often exhibit variability in exposure parameters and geometric setups, leading to inconsistencies in image quality and potential variations in patient dose. Objectives: This study aimed to harmonise and optimise chest and pelvis X-ray imaging protocols by [...] Read more.

X-ray imaging protocols in radiology departments often exhibit variability in exposure parameters and geometric setups, leading to inconsistencies in image quality and potential variations in patient dose. Objectives: This study aimed to harmonise and optimise chest and pelvis X-ray imaging protocols by standardising exposure parameters and geometric setups across departmental systems, minimising radiation dose while ensuring adequate image quality for accurate diagnosis. Methods: The image quality of five pelvic and three chest protocols across different radiographic systems was evaluated both quantitatively and visually. Visual image quality for both chest and pelvis protocols was assessed by radiologists and radiographers using the Visual Grading Analysis (VGA) method. Additionally, the quantitative image quality figure inverse (IQF_inv) metric for all protocols was determined using the CDRAD image quality phantom. Moreover, the patient radiation dose for both chest and pelvis protocols was evaluated using dose area product (DAP) values measured by the systems’ built-in DAP metres. Results: Different quantitative image quality and radiation dose to patients were achieved in various protocol settings for both chest and pelvis examinations, but the visual image quality assessment showed satisfactory image quality for all observers in both the pelvis and chest protocols. The selected protocols for harmonising chest radiography across all imaging systems result in reduced radiation exposure for patients while maintaining adequate image quality compared to the previously used system-specific protocol. Conclusions: The clinical protocol for chest and pelvis radiography has been standardised and optimised in accordance with patient radiation exposure and image quality. This approach aligns with the ALARA (As Low As Reasonably Achievable) principle, ensuring optimal diagnostic information while minimising the radiation risks. Full article

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

21 pages, 3055 KiB

Open AccessArticle

Alzheimer’s Disease Prediction Using Fisher Mantis Optimization and Hybrid Deep Learning Models

by Sameer Abbas, Mustafa Yeniad and Javad Rahebi

Diagnostics 2025, 15(12), 1449; https://doi.org/10.3390/diagnostics15121449 - 6 Jun 2025

Abstract

Background/Objectives: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder causing memory, cognitive, and behavioral decline. Early and accurate diagnosis is critical for timely treatment and management. This study proposes a novel hybrid deep learning framework, GLCM + VGG16 + FMO + CNN-LSTM, [...] Read more.

Background/Objectives: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder causing memory, cognitive, and behavioral decline. Early and accurate diagnosis is critical for timely treatment and management. This study proposes a novel hybrid deep learning framework, GLCM + VGG16 + FMO + CNN-LSTM, to improve AD diagnosis using MRI data. Methods: MRI images were preprocessed through normalization and noise reduction. Feature extraction combined texture features from the Gray-Level Co-occurrence Matrix (GLCM) and spatial features extracted from a pretrained VGG-16 network. Fisher Mantis Optimization (FMO) was employed for optimal feature selection. The selected features were classified using a CNN-LSTM model, capturing both spatial and temporal patterns. The MLP-LSTM model was included only for benchmarking purposes. The framework was evaluated on The ADNI and MIRIAD datasets. Results: The proposed method achieved 98.63% accuracy, 98.69% sensitivity, 98.66% precision, and 98.67% F1-score, outperforming CNN + SVM and 3D-CNN + BiLSTM by 2.4–3.5%. Comparative analysis confirmed FMO’s superiority over other metaheuristics, such as PSO, ACO, GWO, and BFO. Sensitivity analysis demonstrated robustness to hyperparameter changes. Conclusions: The results confirm the efficacy and stability of the GLCM + VGG16 + FMO + CNN-LSTM model for accurate and early AD diagnosis, supporting its potential clinical application. Full article

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

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11 pages, 856 KiB

Open AccessArticle

Diagnostic Properties of Different Serological Methods for Syphilis Testing in Brazil

by Suelen Basgalupp, Thayane Dornelles, Luana Pedrotti, Aniúsca dos Santos, Cáren de Oliveira, Giovana dos Santos, Emerson de Brito, Ben Hur Pinheiro, Ana Cláudia Philippus, Álisson Bigolin, Pamela Cristina Gaspar, Flávia Moreno, Gerson Pereira, Maiko Luis Tonini and Eliana Wendland

Diagnostics 2025, 15(12), 1448; https://doi.org/10.3390/diagnostics15121448 - 6 Jun 2025

Abstract

Background/Objectives: Syphilis remains a significant public health challenge worldwide. Accurate and efficient diagnostic tools are essential to controlling the spread of the disease. Current diagnostic approaches primarily rely on serologic treponemal tests (TTs) and nontreponemal tests (NTTs). The aim of this study [...] Read more.

Background/Objectives: Syphilis remains a significant public health challenge worldwide. Accurate and efficient diagnostic tools are essential to controlling the spread of the disease. Current diagnostic approaches primarily rely on serologic treponemal tests (TTs) and nontreponemal tests (NTTs). The aim of this study was to evaluate the diagnostic properties of various serological methods for syphilis diagnosis. Methods: Samples were collected from participants of the Health, Information, and Sexually Transmitted Infection Monitoring (SIM study) between March 2020 and May 2023, using convenience sampling at a mobile health unit in Porto Alegre, Brazil. A total of 250 individuals were tested using the point-of-care (POC) lateral flow treponemal test, Venereal Disease Research Laboratory (VDRL) test, Rapid Plasma Reagin (RPR) test, Enzyme-Linked Immunosorbent Assay (ELISA), and Treponema pallidum hemagglutination assay (TPHA). Of these, 125 participants tested positive for syphilis in the POC screening. Diagnostic properties such as sensitivity, specificity, and predictive values were assessed for the POC test, ELISA, and VDRL test. The TPHA was used as the reference standard for the TT, and the RPR test as the reference standard for the NTT. Results: Among individuals with positive POC test results, 97.6% (122/125) were also positive by the ELISA, and 85.6% (107/125) were positive by the TPHA. Additionally, 48.0% (60/125) and 42.4% (53/125) tested positive by the VDRL and RPR tests, respectively. Using the TPHA as a reference, TT tests showed sensitivities of 97–98% and specificities of 93–95% for detecting anti-Treponema pallidum antibodies using the ELISA and POC test, respectively. For the NTT, the VDRL test demonstrated a sensitivity of 98% and a specificity of 95% compared to the RPR test. The kappa coefficients were 0.85 for the POC test vs. the TPHA, 0.81 for the ELISA vs. the TPHA, and 0.89 for the VDRL vs. the RPR tests, indicating substantial agreement. Conclusions: This study highlights a good diagnostic performance and high agreement levels among the evaluated serological tests for syphilis, reinforcing their utility in clinical and public health settings, as well as epidemiological studies. Full article

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

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13 pages, 2770 KiB

Open AccessArticle

Comparison of Myocardial Function in Young and Old Mice During Acute Myocardial Infarction: A Cardiac Magnetic Resonance Study

by Antonia Dalmer, Paul Wörner, Mathias Manzke, Ralf Gäbel, Tobias Lindner, Felix G. Meinel, Marc-André Weber, Robert David and Cajetan I. Lang

Diagnostics 2025, 15(12), 1447; https://doi.org/10.3390/diagnostics15121447 - 6 Jun 2025

Abstract

Background/Objectives: This study aimed to compare changes in functional and strain parameters in young and old mice using cardiac MRI before and shortly after myocardial infarction. Methods: In this prospective experimental study, 7 young mice and 10 old mice underwent a [...] Read more.

Background/Objectives: This study aimed to compare changes in functional and strain parameters in young and old mice using cardiac MRI before and shortly after myocardial infarction. Methods: In this prospective experimental study, 7 young mice and 10 old mice underwent a cardiac MRI 5 days before and 2 days after myocardial infarction by LAD ligation. Functional parameters such as EDV, ESV, EF, SV, and Strain were determined. Results: EDV in the young mice before LAD ligation was significantly lower than in the old mice (p-value 0.002). EDV significantly increased after infarction in both groups. ESV was significantly lower in young mice before infarction than in old mice (9.7 ± 2.6 vs. 13.8 ± 3.9 [µL], p = 0.029). After infarction, the mean value was still lower but no longer significant. There was no significant difference between young and old mice either before or after infarction for the EF. But again, the decrease was significant for both groups (old: p < 0.0001 and young: p = 0.0009). Each global strain showed deterioration after infarction. This difference was significant in both subgroups for young mice and old mice for each strain. There were no differences either before or after infarction between the young and old mice. Conclusions: There were differences in functional parameters between young and old mice in EDV, SV, and CO. Changes in strain parameters in the acute phase post-myocardial infarction did not differ significantly between young and old mice, while there was a clear deterioration in strain parameters after infarction in both groups. Full article

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

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20 pages, 1173 KiB

Open AccessArticle

Validation of an Eye-Tracking Algorithm Based on Smartphone Videos: A Pilot Study

by Wanzi Su, Damon Hoad, Leandro Pecchia and Davide Piaggio

Diagnostics 2025, 15(12), 1446; https://doi.org/10.3390/diagnostics15121446 - 6 Jun 2025

Abstract

Introduction: This study aimed to develop and validate an efficient eye-tracking algorithm suitable for the analysis of images captured in the visible-light spectrum using a smartphone camera. Methods: The investigation primarily focused on comparing two algorithms, which were named CHT_TM and CHT_ACM, abbreviated [...] Read more.

Introduction: This study aimed to develop and validate an efficient eye-tracking algorithm suitable for the analysis of images captured in the visible-light spectrum using a smartphone camera. Methods: The investigation primarily focused on comparing two algorithms, which were named CHT_TM and CHT_ACM, abbreviated from the core functions: Circular Hough Transform (CHT), Active Contour Models (ACMs), and Template Matching (TM). Results: CHT_TM significantly improved the running speed of the CHT_ACM algorithm, with not much difference in the resource consumption, and improved the accuracy on the x axis. CHT_TM achieved a reduction by 79% of the execution time. CHT_TM performed with an average mean percentage error of 0.34% and 0.95% in the x and y direction across the 19 manually validated videos, compared to 0.81% and 0.85% for CHT_ACM. Different conditions, like manually opening the eyelids with a finger versus without a finger, were also compared across four different tasks. Conclusions: This study shows that applying TM improves the original eye-tracking algorithm with CHT_ACM. The new algorithm has the potential to help the tracking of eye movement, which can facilitate the early screening and diagnosis of neurodegenerative diseases. Full article

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

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11 pages, 2345 KiB

Open AccessArticle

BioInnovate AI: A Machine Learning Platform for Rapid PCR Assay Design in Emerging Infectious Disease Diagnostics

by Hung-Hsin Lin, Hsing-Yi Chung, Tai-Han Lin, Chih-Kai Chang, Cherng-Lih Perng, Kuo-Sheng Hung, Katsunori Yanagihara, Hung-Sheng Shang and Ming-Jr Jian

Diagnostics 2025, 15(12), 1445; https://doi.org/10.3390/diagnostics15121445 - 6 Jun 2025

Abstract

Background/Objectives: Emerging infectious diseases pose significant global threats due to their rapid transmission, limited therapeutic options, and profound socioeconomic impact. Conventional diagnostic techniques that rely on sequencing and polymerase chain reactions (PCR) frequently lack the speed necessary to efficiently respond to rapidly evolving [...] Read more.

Background/Objectives: Emerging infectious diseases pose significant global threats due to their rapid transmission, limited therapeutic options, and profound socioeconomic impact. Conventional diagnostic techniques that rely on sequencing and polymerase chain reactions (PCR) frequently lack the speed necessary to efficiently respond to rapidly evolving pathogens. This study describes the development of BioInnovate AI to overcome these limitations using machine learning to expedite PCR assay development. Methods: The ability of BioInnovate AI to predict optimal PCR reagents across multiple pathogens was assessed. Additionally, random forest classifier, light gradient boosting machine (LGBM), and gradient boosting classifier models were evaluated for their ability to predict effective PCR primer–probe combinations. Performance metrics, including the area under the curve (AUC), sensitivity, specificity, accuracy, and F1 score, were assessed to identify the optimal model for platform integration. Results: All machine learning models performed well, with the LGBM model achieving the highest metrics (AUC: 0.97, sensitivity: 0.93, specificity: 0.91). BioInnovate AI significantly reduced PCR assay development time by approximately 90%, enabling rapid design and reagent optimization for multiple pathogens. Conclusions: BioInnovate AI provides a rapid, accurate, and efficient method for PCR reagent design, significantly enhancing global diagnostic preparedness by optimizing primers and probes for the timely detection of infectious diseases. Full article

(This article belongs to the Special Issue AI-Powered Clinical Diagnosis and Decision-Support Systems)

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23 pages, 3830 KiB

Open AccessArticle

A Hybrid Artificial Intelligence Approach for Down Syndrome Risk Prediction in First Trimester Screening

by Emre Yalçın, Serpil Aslan, Mesut Toğaçar and Süleyman Cansun Demir

Diagnostics 2025, 15(12), 1444; https://doi.org/10.3390/diagnostics15121444 - 6 Jun 2025

Abstract

Background/Objectives: The aim of this study is to develop a hybrid artificial intelligence (AI) approach to improve the accuracy, efficiency, and reliability of Down Syndrome (DS) risk prediction during first trimester prenatal screening. The proposed method transforms one-dimensional (1D) patient data—including features such [...] Read more.

Background/Objectives: The aim of this study is to develop a hybrid artificial intelligence (AI) approach to improve the accuracy, efficiency, and reliability of Down Syndrome (DS) risk prediction during first trimester prenatal screening. The proposed method transforms one-dimensional (1D) patient data—including features such as nuchal translucency (NT), human chorionic gonadotropin (hCG), and pregnancy-associated plasma protein A (PAPP-A)—into two-dimensional (2D) Aztec barcode images, enabling advanced feature extraction using transformer-based deep learning models. Methods: The dataset consists of 958 anonymous patient records. Each record includes four first trimester screening markers, hCG, PAPP-A, and NT, expressed as multiples of the median. The DS risk outcome was categorized into three classes: high, medium, and low. Three transformer architectures—DeiT3, MaxViT, and Swin—are employed to extract high-level features from the generated barcodes. The extracted features are combined into a unified set, and dimensionality reduction is performed using two feature selection techniques: minimum Redundancy Maximum Relevance (mRMR) and RelieF. Intersecting features from both selectors are retained to form a compact and informative feature subset. The final features are classified using machine learning algorithms, including Bagged Trees and Naive Bayes. Results: The proposed approach achieved up to 100% classification accuracy using the Naive Bayes classifier with 1250 features selected by RelieF and 527 intersecting features from mRMR. By selecting a smaller but more informative subset of features, the system significantly reduced hardware and processing demands while maintaining strong predictive performance. Conclusions: The results suggest that the proposed hybrid AI method offers a promising and resource-efficient solution for DS risk assessment in first trimester screening. However, further comparative studies are recommended to validate its performance in broader clinical contexts. Full article

(This article belongs to the Special Issue Artificial Intelligence for Health and Medicine)

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15 pages, 1516 KiB

Open AccessArticle

B-Cell Epitope Mapping of the Treponema pallidum Tp0435 Immunodominant Lipoprotein for Peptide-Based Syphilis Diagnostics

by Jessica L. Keane, Mahashweta Bose, Barbara J. Molini, Kelika A. Konda, Silver K. Vargas, Michael Reyes Diaz, Carlos F. Caceres, Jeffrey D. Klausner, Rebecca S. Treger and Lorenzo Giacani

Diagnostics 2025, 15(11), 1443; https://doi.org/10.3390/diagnostics15111443 - 5 Jun 2025

Abstract

Background/Objectives: Syphilis, a chronic sexually transmitted disease caused by the spirochete Treponema pallidum subspecies pallidum (T. pallidum), is still endemic in low- and middle-income countries and has been resurgent for decades in many high-income nations despite being treatable. Improving our understanding of [...] Read more.

Background/Objectives: Syphilis, a chronic sexually transmitted disease caused by the spirochete Treponema pallidum subspecies pallidum (T. pallidum), is still endemic in low- and middle-income countries and has been resurgent for decades in many high-income nations despite being treatable. Improving our understanding of syphilis pathogenesis, immunology, and T. pallidum biology could result in novel measures to curtail syphilis spread, including new therapeutics, a preventive vaccine, and, most importantly, improved diagnostics. Methods: Using overlapping synthetic peptides spanning the length of the T. pallidum Tp0435 mature lipoprotein, an abundant antigen known to induce an immunodominant humoral response during both natural and experimental infection, we evaluated which Tp0435 linear epitopes are most significantly recognized by antibodies from an infected host. Specifically, we used sera from 63 patients with syphilis at different stages, sera from non-syphilis patients (n = 40), and sera longitudinally collected from 10 rabbits infected with either the Nichols or SS14 isolates of T. pallidum, which represent the model strains for the two known circulating clades of this pathogen, to further evaluate the use of this animal model for syphilis studies. Recognized amino acid sequences were then mapped to the experimentally determined Tp0435 structure. Results: Reactive epitopes in both serum groups mapped predominantly to the α-helix preceding Tp0435 soluble β-barrel and the loops of the barrel. Conclusions: In the current effort to improve current syphilis diagnostics, the peptides corresponding to these immunodominant epitopes could help develop epitope-based assays such as peptide-based ELISAs and lateral flow point-of-care tests to improve the performance of treponemal tests and expedite diagnosis in low-income settings, where the infection is still a significant concern for public health and access to facilities with laboratories equipped to perform complex procedures might be challenging. Full article

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

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13 pages, 3586 KiB

Open AccessArticle

Preoperative Tunnel Measurement in Hidradenitis Suppurativa: Comparison of Palpation and Ultrasound

by Aslı Tatlıparmak, Murat Doğan and Zafer Türkoğlu

Diagnostics 2025, 15(11), 1442; https://doi.org/10.3390/diagnostics15111442 - 5 Jun 2025

Abstract

Background/Objectives: The accurate measurement of tunnel lengths in hidradenitis suppurativa (HS) is critical for surgical planning. This study aimed to evaluate the agreement between palpation and high-frequency ultrasound (USG) for assessing tunnel lengths in HS patients. Methods: This prospective study included [...] Read more.

Background/Objectives: The accurate measurement of tunnel lengths in hidradenitis suppurativa (HS) is critical for surgical planning. This study aimed to evaluate the agreement between palpation and high-frequency ultrasound (USG) for assessing tunnel lengths in HS patients. Methods: This prospective study included patients who underwent the surgical excision of tunnels between May 2024 and July 2024 at a referral dermatology clinic. Tunnel lengths were measured preoperatively using palpation and USG. Clinical and demographic data, including lesion localization and disease severity, were prospectively recorded and analyzed. Results: This study analyzed 121 lesions from patients undergoing surgical excision for HS. Tunnel lengths measured by palpation had a median of 30 mm [IQR 18–40], while USG measurements had a median of 36 mm [IQR 24–51.5], with USG identifying tunnels 10.3 mm longer on average (95% CI: 8.2–12.3). Axillary lesions were most frequent (53.7%), followed by inguinal (32.2%) and sacral regions (6.6%). Most lesions were classified as Hurley stage 2 (59.5%) and stage 3 (37.2%), with a median IHS4 score of 8 [IQR 7–11]. Conclusions: High-frequency USG offers greater precision than palpation in measuring tunnel lengths, indicating its potential to enhance disease assessments in HS. Full article

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

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