Diagnostics

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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22 pages, 2225 KiB

Open AccessArticle

Connectogram-COH: A Coherence-Based Time-Graph Representation for EEG-Based Alzheimer’s Disease Detection

by Ehssan Aljanabi and İlker Türker

Diagnostics 2025, 15(11), 1441; https://doi.org/10.3390/diagnostics15111441 - 5 Jun 2025

Abstract

Background: Alzheimer’s disease (AD) is a neurological disorder that affects the brain in the elderly, resulting in memory loss, mental deterioration, and loss of the ability to think and act, while being a cause of death, with its rates increasing dramatically. A popular [...] Read more.

Background: Alzheimer’s disease (AD) is a neurological disorder that affects the brain in the elderly, resulting in memory loss, mental deterioration, and loss of the ability to think and act, while being a cause of death, with its rates increasing dramatically. A popular method to detect AD is electroencephalography (EEG) signal analysis thanks to its ability to reflect neural activity, which helps to identify abnormalities associated with the disorder. Originating from its multivariate nature, EEG signals are generally handled as multidimensional time series, and the related methodology is employed. Methods: This study proposes a new transformation strategy that generates a graph representation with time resolution, which handles EEG recordings as relatively small time windows and converts these segments into a similarity graph based on signal coherence between available channels. The retrieved adjacency matrices are further flattened to form a 1-pixel image column, which represents the coherence activity from the available electrodes within the given time window. These pixel columns are concatenated horizontally for all available sliding time windows with 50% overlap, resulting in a grayscale image representation that can be input to well-known deep learning architectures specialized for images. We name this representation Connectogram-COH, a coherence-based version of the previously proposed time graph representation, Connectogram. Results: The experimental results demonstrate that the proposed Connectogram-COH representation effectively captures the coherence dynamics of multichannel EEG data and achieves high accuracy in detecting Alzheimer’s disease. The time graph images serve as robust input for deep learning classifiers, outperforming traditional EEG representations in terms of classification performance. Conclusions: Connectogram-COH offers a powerful and interpretable approach for transforming EEG signals into image representations that are well suited for deep learning. The method not only improves the detection of AD but also shows promise for broader applications in EEG-based and general time series classification tasks. Full article

(This article belongs to the Special Issue EEG Analysis in Diagnostics)

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11 pages, 1848 KiB

Open AccessArticle

Sarcopenia as a Risk Factor in Patients Undergoing Transjugular Intrahepatic Portosystemic Shunt (TIPS) Implantation

by Laura Büttner, Annette Aigner, Regina Stegherr, Simon Iseke, Martin Jonczyk, Willie Magnus Lüdemann, Timo Alexander Auer, Federico Collettini, Dirk Schnapauff, Maximilian de Bucourt, Bernhard Gebauer, Dominik Geisel and Georg Böning

Diagnostics 2025, 15(11), 1440; https://doi.org/10.3390/diagnostics15111440 - 5 Jun 2025

Abstract

Background: Prior studies suggest that patients’ body composition changes following transjugular intrahepatic portosystemic shunt (TIPS) implantation, potentially influencing complications and survival. Method: A prototype artificial intelligence (AI)-based, automated computed tomography (CT) body composition analysis tool was used to assess body composition [...] Read more.

Background: Prior studies suggest that patients’ body composition changes following transjugular intrahepatic portosystemic shunt (TIPS) implantation, potentially influencing complications and survival. Method: A prototype artificial intelligence (AI)-based, automated computed tomography (CT) body composition analysis tool was used to assess body composition imaging parameters in pre- and postinterventional scans of TIPS patients: visceral (VAT) and subcutaneous adipose tissue (SAT) areas, psoas muscle area (PMA), and total abdominal muscle area (TAMA). Sarcopenia was defined as a lumbar skeletal muscle index (LSMI) ≤ 38.5 cm²/m² in women and ≤52.4 cm²/m² in men. We analyzed longitudinal changes in body composition and investigated the impact of sarcopenia at TIPS implantation on the risk of TIPS thrombosis, hepatic encephalopathy, complications, and death using Cox regression models. Results: No clear trend emerged regarding changes in body composition parameters during postinterventional follow-up. Sarcopenia at TIPS implantation increased the instantaneous risk of postinterventional complications (hazard ratio (HR) 1.67; 95% confidence interval (CI) 0.95–2.93), development of hepatic encephalopathy (HR 1.65; 0.81–3.33), as well as the risk of dying within one year (HR 1.39; 0.66–2.92). Conclusions: CT body composition analysis may help in identifying high-risk patients undergoing TIPS implantation. Sarcopenia was associated with increased mortality and a higher incidence of postinterventional complications, particularly hepatic encephalopathy. Full article

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

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15 pages, 2602 KiB

Open AccessArticle

The Role of Muscle Density in Predicting the Amputation Risk in Peripheral Arterial Disease: A Tissue Composition Study Using Lower Extremity CT Angiography

by Yueh-Hung Lin, Pei-Shan Tsai, Chung-Lieh Hung, Mirza Faisal Beg, Hung-I Yeh, Chun-Ho Yun and Ming-Ting Wu

Diagnostics 2025, 15(11), 1439; https://doi.org/10.3390/diagnostics15111439 - 5 Jun 2025

Abstract

Objectives: Peripheral arterial disease (PAD) is a common vascular condition with amputation as a major complication. While muscle volume and vascular severity is often considered in risk prediction, the prognostic value of muscle density remains underexplored. Methods: In this exploratory study, we [...] Read more.

Objectives: Peripheral arterial disease (PAD) is a common vascular condition with amputation as a major complication. While muscle volume and vascular severity is often considered in risk prediction, the prognostic value of muscle density remains underexplored. Methods: In this exploratory study, we retrospectively analyzed 134 patients undergoing lower-limb computed tomography angiography between January 2018 and December 2023. Muscle density (MD), muscle volume, intermuscular adipose tissue (IMAT), and vascular severity scores were quantified using deep learning software. Patients were stratified into non-PAD, mild PAD, and critical limb ischemia (CLI) groups. Multivariate Cox regression assessed associations with amputation risk. Results: PAD patients, especially those with CLI, had lower muscle volumes (e.g., total leg: 7945.3 ± 2012.5 cm³ in CLI vs. 11,161.6 ± 4670.4 cm³ in non-PAD), lower muscle densities (e.g., lower leg: 34.0 ± 10.5 HU in CLI vs. 44.1 ± 6.9 HU in non-PAD), higher intermuscular adipose tissue volume percentage (e.g., total leg: 15.6 ± 5.4% in CLI vs. 10.5 ± 3.6% in non-PAD), and higher vascular severity scores (e.g., total leg: 12.6 ± 5.0 in CLI vs. 0.1 ± 0.3 in non-PAD), compared to non-PAD individuals. Only muscle density (MD) including that of abdominal muscle, thigh muscle, and lower leg muscle remained significant predictors of amputation risk after adjusting for confounders. Multivariate Cox regression models, adjusted for demographics and comorbidities, revealed that lower MD of abdomen (<18.7 HU; HR, 6.50, 95% CI, 1.95–21.77), thigh (<27.8 HU; HR, 5.00, 95% CI, 1.60–15.66), and lower leg (<32.4 HU; HR, 6.89, 95% CI, 2.17–21.93) muscles were independently associated with increased amputation risk. Conclusions: Muscle density, reflecting muscle quality rather than quantity, was an independent predictor of amputation risk in PAD. These findings highlight the prognostic value of muscle quality and support the integration of advanced imaging techniques, such as automated CTA-based body composition analysis, for risk stratification in PAD patients. Full article

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

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29 pages, 770 KiB

Open AccessReview

Evolving Paradigm in Radioactive Iodine Therapy for Differentiated Thyroid Cancer: Historical Perspectives, Current Practices and Future Directions

by Jasna Mihailović

Diagnostics 2025, 15(11), 1438; https://doi.org/10.3390/diagnostics15111438 - 5 Jun 2025

Abstract

Therapy with radioactive iodine (I-131) following a total thyroidectomy has been a gold standard in the treatment of differentiated thyroid cancer (DTC) for over 80 years. Over the years, its role has shifted from routine use to a more selective, risk-adapted approach, informed [...] Read more.

Therapy with radioactive iodine (I-131) following a total thyroidectomy has been a gold standard in the treatment of differentiated thyroid cancer (DTC) for over 80 years. Over the years, its role has shifted from routine use to a more selective, risk-adapted approach, informed by tumor biology, patient risk stratification and evolving clinical guidelines. This review examines the changing landscape of I-131 therapy, tracing its historical foundations, current indications, and future directions shaped by molecular medicine. We discuss the transition from a standardized, one-size-fits-all treatment approach to an individualized, dynamic stratification model that allows for ongoing risk reassessment and tailored treatment strategies. Key updates in clinical practice, such as the 2015 ATA Guidelines, the 2022 ETA Consensus Statement, and joint SNMMI and EANM nuclear medicine recommendations, are critically examined. We also address ongoing controversies in the management of low- and intermediate-risk patients, including the roles of I-131 whole-body scanning, activity selection, and overall treatment approach. Molecular theranostics is ushering in a new era in DTC management, enabling improved patient selection and more precise treatment. Advances in molecular profiling, imaging, and targeted therapies support a personalized treatment approach that aims to optimize therapeutic decisions while minimizing side effects and enhancing long-term safety. Full article

(This article belongs to the Special Issue Applications of PET/CT in Clinical Diagnostics)

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19 pages, 2179 KiB

Open AccessArticle

Variation in CBC-Derived Inflammatory Biomarkers Across Histologic Subtypes of Lung Cancer: Can Histology Guide Clinical Management?

by Claudia Raluca Mariean, Oana Mirela Tiuca, Alexandru Mariean and Ovidiu Simion Cotoi

Diagnostics 2025, 15(11), 1437; https://doi.org/10.3390/diagnostics15111437 - 5 Jun 2025

Abstract

Background/Objectives: The early detection of high levels of CBC-derived inflammatory biomarkers and cellular lines, as well as their variations across different histological subtypes of lung cancer, may aid in the early identification of high-risk lung cancer patients and further guide their clinical [...] Read more.

Background/Objectives: The early detection of high levels of CBC-derived inflammatory biomarkers and cellular lines, as well as their variations across different histological subtypes of lung cancer, may aid in the early identification of high-risk lung cancer patients and further guide their clinical approach. Methods: A retrospective descriptive study was conducted and included 202 patients diagnosed with lung carcinoma at the Clinical County Hospital Mureș. The main analyzed parameters were the histological subtype and the stage of the tumor at diagnosis, white blood cell counts, and platelet counts, as well as nine CBC-derived inflammatory indexes like neutrophil-to-lymphocyte ratio (NLR), derived neutrophil-to-lymphocyte ratio (d-NLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-lymphocyte ratio (PLR), eosinophil-to-neutrophil ratio (ENR), eosinophil-to-monocyte ratio (EMR), systemic inflammatory index (SII), systemic inflammatory response index (SIRI), and aggregate index of systemic inflammation (AISI). The statistical analysis was performed using the MedCalc software, version 23.0.2. Logarithmic ANOVA was used to compare groups. Normality was tested using the Shapiro–Wilk test. The Chi-square test compared categorical variables, while the independent Mann-Whitney test was used for continuous variables. Results: The inflammatory response increased as disease severity progressed, with NSCLC-NOS being the histological subtype with the most numerous patients outside the normal ranges. Eosinophil count differed significantly across the histologic subtypes of NSCLC, with adenocarcinoma and adenosquamous patients exhibiting the highest values. In adenocarcinoma patients, we observed that NLR and MLR levels increased progressively as the tumor stage advanced. Based on severity, differences were observed across the histological subtypes of lung cancer in stage III patients for ENR, EMR, AISI, eosinophil count, and platelet count, as well as in stage IV patients for AISI, SIRI, and SII. Disease severity impacts the associated inflammatory response in all histologic subtypes of lung cancer to varying degrees. Conclusions: Histological subtype might have a decisive role in shaping the systemic inflammatory profile of lung cancer patients. CBC-derived indices serve as accessible, cost-effective biomarkers for early risk assessment, aiding in the prognosis evaluation and monitoring of therapeutic response. Future studies are needed to further evaluate the histology-specific inflammatory profiles as adjunctive tools in precision oncology. Full article

(This article belongs to the Special Issue Prognostic and Predictive Biomarkers of Lung Cancer)

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6 pages, 4382 KiB

Open AccessInteresting Images

Whole-Brain Confocal Imaging Provides an Accurate Global View of the Nigral Dopamine System

by Fu-Ming Zhou

Diagnostics 2025, 15(11), 1436; https://doi.org/10.3390/diagnostics15111436 - 5 Jun 2025

Abstract

Clinicopathological studies and the effectiveness of dopaminergic replacement therapy establish that dopamine loss is the key pathology causing motor symptoms in Parkinson’s disease. The dopamine neurons that are impaired in Parkinson’s disease reside in the substantia nigra and ventral tegmental area in the [...] Read more.

Clinicopathological studies and the effectiveness of dopaminergic replacement therapy establish that dopamine loss is the key pathology causing motor symptoms in Parkinson’s disease. The dopamine neurons that are impaired in Parkinson’s disease reside in the substantia nigra and ventral tegmental area in the midbrain. These neurons project into the striatum, where dopamine axons bifurcate repeatedly and form dense axon networks (the striatum is separated into the caudate nucleus and putamen by the internal capsule). Midbrain dopamine neurons also innervate many other areas of the brain, including the cerebral cortex. Therefore, there are preclinical and clinical studies investigating extrastriatal dopamine mechanisms in motor control and Parkinson’s disease pathophysiology and treatment. While extrastriatal dopamine can contribute, this contribution needs to be compared with the contribution of the striatal dopamine system. An isolated view of the extrastriatal dopamine system is like examining only the ear of an elephant and may lead to distorted assessments for preclinical and clinical research and diagnostic work. Thus, photographs of the whole brain dopamine system are important. For these reasons, we photographed the dopamine systems in whole mouse brain sagittal sections, showing clearly that, under identical imaging conditions, dopamine innervation is highly concentrated and intense in the striatum but sparse and weak in the cerebral cortex. Full article

(This article belongs to the Section Biomedical Optics)

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19 pages, 1239 KiB

Open AccessReview

Trauma-Induced Coagulopathy: A Review of Specific Molecular Mechanisms

by Andrea Capponi and Carlo Rostagno

Diagnostics 2025, 15(11), 1435; https://doi.org/10.3390/diagnostics15111435 - 5 Jun 2025

Abstract

Trauma remains a leading cause of death and disability in adults, and about 20% of deaths occur due to intractable bleeding. Trauma-induced coagulopathy (TIC) is a complex hemostatic disorder characterized by an abnormal coagulation response, which can manifest as either a hypo-coagulable state, [...] Read more.

Trauma remains a leading cause of death and disability in adults, and about 20% of deaths occur due to intractable bleeding. Trauma-induced coagulopathy (TIC) is a complex hemostatic disorder characterized by an abnormal coagulation response, which can manifest as either a hypo-coagulable state, leading to excessive bleeding, or a hypercoagulable state, resulting in thromboembolic events and multiple organ failure. Early diagnosis and correction of hypocoagulability may be lifesaving. Replacement of coagulation factors using blood components as well as counteracting enhanced fibrinolysis with tranexamic acid in association with a strategy of damage control are the current practices in the management of TIC. Nevertheless, the improved comprehension of the several mechanisms involved in the development of TIC might offer space for a tailored treatment with improvement of clinical outcome. This review aims to outline the pathophysiology of TIC and evaluate both established and emerging management strategies. A thorough literature review was made with a specific emphasis on articles discussing the molecular mechanisms of trauma-induced coagulopathy. We utilized PubMed, Scopus, and Web of Science with the main search terms “trauma-induced coagulopathy”, “molecular mechanisms”, and “coagulation pathways”. Full article

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

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8 pages, 636 KiB

Open AccessCommunication

Integrating an LFA Carbapenemase Detection System into the Laboratory Diagnostic Routine: Preliminary Data and Effectiveness Against Enzyme Variants

by Maddalena Calvo, Gaetano Maugeri, Dafne Bongiorno, Giuseppe Migliorisi and Stefania Stefani

Diagnostics 2025, 15(11), 1434; https://doi.org/10.3390/diagnostics15111434 - 5 Jun 2025

Abstract

Background/Objectives. Carbapenemase production is the most diffused carbapenem-resistance mechanism among Enterobacterales, with Klebsiella pneumoniae carbapenemase (KPC), Verona-imipenemase (VIM), New-Delhi metallo-β-lactamase (NDM), imipenemase (IMP), and oxacillinase (OXA-48) being reported as the main types within Europe. Particularly, Southern Italy holds a concerningly high [...] Read more.

Background/Objectives. Carbapenemase production is the most diffused carbapenem-resistance mechanism among Enterobacterales, with Klebsiella pneumoniae carbapenemase (KPC), Verona-imipenemase (VIM), New-Delhi metallo-β-lactamase (NDM), imipenemase (IMP), and oxacillinase (OXA-48) being reported as the main types within Europe. Particularly, Southern Italy holds a concerningly high percentage of carbapenemases-producing Enterobacterales diffused among different hospital settings. These strains may colonize critical patients’ gastrointestinal tracts, often causing disseminations and severe complications. Scientific data recently reported carbapenemase variants’ worldwide diffusion and several double-carbapenemases reports. The diagnostic routine needs devices whose detection rates are extended to similar epidemiological conditions, avoiding a lack of specificity and potential negative results. Methods. We planned a retrospective study including carbapenem- and/or ceftazidime/avibactam-resistant Enterobacterales (62) which were tested with the KPC/IMP/NDM/VIM/OXA-48 Combo Test Kit (KINVO, Medomics Medical Technology, Nanjing, Jiangsu, China) based on the lateral flow assay (LFA) method. Results. We compared its results to the phenotypic antimicrobial susceptibility testing (AST) MIC results, obtaining a 100% agreement rate. The LFA kit reported carbapenemases in all the tested strains, also identifying cases of KPC variants and double-carbapenemases production. Conclusions. Our data demonstrated how LFAs may represent a reliable alternative requiring minimum economic and personnel resources along with simple result interpretations. Future studies will be necessary to further investigate the system effectiveness on a larger isolates’ number and a broad carbapenemase variant spectrum. Full article

(This article belongs to the Special Issue Microbiology Laboratory: Sample Collection and Diagnosis Advances, 2nd Edition)

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