Search Results (2,705)

Background: Coronary heart disease (CHD) remains a leading cause of morbidity and mortality worldwide. Mitochondria-associated endoplasmic reticulum membranes (MAMs) have recently emerged as critical mediators in cardiovascular pathophysiology; however, their specific contributions to CHD pathogenesis remain largely unexplored. Objective: This study aimed to identify and validate MAM-related biomarkers in CHD through integrated analysis of transcriptomic sequencing data and Mendelian randomization, and to elucidate their underlying mechanisms. Methods: We analyzed two gene expression microarray datasets (GSE113079 and GSE42148) and one genome-wide association study (GWAS) dataset (ukb-d-I9_CHD) to identify differentially expressed genes (DEGs) associated with CHD. MAM-related DEGs were filtered using weighted gene co-expression network analysis (WGCNA). Functional enrichment analysis, Mendelian randomization, and machine learning algorithms were employed to identify biomarkers with direct causal relationships to CHD. A diagnostic model was constructed to evaluate the clinical utility of the identified biomarkers. Additionally, we validated the two hub genes in peripheral blood samples from CHD patients and normal controls, as well as in aortic tissue samples from a low-density lipoprotein receptor-deficient (LDLR−/−) atherosclerosis mouse model. Results: We identified 4174 DEGs, from which 3326 MAM-related DEGs (DE-MRGs) were further filtered. Mendelian randomization analysis coupled with machine learning identified two biomarkers, DHX36 and GPR68, demonstrating direct causal relationships with CHD. These biomarkers exhibited excellent diagnostic performance with areas under the receiver operating characteristic (ROC) curve exceeding 0.9. A molecular interaction network was constructed to reveal the biological pathways and molecular mechanisms involving these biomarkers. Furthermore, validation using peripheral blood from CHD patients and aortic tissues from the Ldlr−/− atherosclerosis mouse model corroborated these findings. Conclusions: This study provides evidence supporting a mechanistic link between MAM dysfunction and CHD pathogenesis, identifying candidate biomarkers that have the potential to serve as diagnostic tools and therapeutic targets for CHD. While the validated biomarkers offer valuable insights into the molecular pathways underlying disease development, additional studies are needed to confirm their clinical relevance and therapeutic potential in larger, independent cohorts. Full article

Background/Objectives: Breast cancer is the most common malignancy among women, and early detection is critical for improving outcomes. The Breast Imaging Reporting and Data System (BI-RADS) standardizes reporting, but the BI-RADS 4 category presents a major challenge, with malignancy risk ranging from 2% to 95%. Consequently, most women in this category undergo biopsies that ultimately prove unnecessary. This study evaluated whether exhaled breath analysis could distinguish malignant from benign findings in BI-RADS 4 patients. Methods: Participants referred to the McGill University Health Centre Breast Center with BI-RADS 3–5 findings provided multiple breath specimens. Breathprints were captured using an electronic nose (eNose) powered breathalyzer, and diagnoses were confirmed by imaging and pathology. An autoencoder-based model fused the breath data with BI-RADS scores to predict malignancy. Model performance was assessed using repeated cross-validation with ensemble voting, prioritizing sensitivity to minimize false negatives. Results: The breath specimens of eighty-five participants, including sixty-eight patients with biopsy-confirmed benign lesions and seventeen patients with biopsy-confirmed breast cancer within the BI-RADS 4 cohort were analyzed. The model achieved a mean sensitivity of 88%, specificity of 75%, and a negative predictive value (NPV) of 97%. Results were consistent across BI-RADS 4 subcategories, with particularly strong sensitivity in higher-risk groups. Conclusions: This proof-of-concept study shows that exhaled breath analysis can reliably differentiate malignant from benign findings in BI-RADS 4 patients. With its high negative predictive value, this approach may serve as a non-invasive rule-out tool to reduce unnecessary biopsies, lessen patient burden, and improve diagnostic decision-making. Larger, multi-center studies are warranted. Full article

The use of machine learning (ML) and deep learning (DL) in lung cancer detection and classification offers great promise for improving early diagnosis and reducing death rates. Despite major advances in research, there is still a significant gap between successful model development and clinical use. This review identifies the main obstacles preventing ML/DL tools from being adopted in real healthcare settings and suggests practical advice to tackle them. Using PRISMA guidelines, we examined over 100 studies published between 2022 and 2024, focusing on technical accuracy, clinical relevance, and ethical aspects. Most of the reviewed studies rely on computed tomography (CT) imaging, reflecting its dominant role in current lung cancer screening workflows. While many models achieve high performance on public datasets (e.g., >95% sensitivity on LUNA16), they often perform poorly on real clinical data due to issues like domain shift and bias, especially toward underrepresented groups. Promising solutions include federated learning for data privacy, synthetic data to support rare subtypes, and explainable AI to build trust. We also present a checklist to guide the development of clinically applicable tools, emphasizing generalizability, transparency, and workflow integration. The study recommends early collaboration between developers, clinicians, and policymakers to ensure practical adoption. Ultimately, for ML/DL solutions to gain clinical acceptance, they must be designed with healthcare professionals from the beginning. Full article

Artificial intelligence (AI) is rapidly transforming medical diagnostics by allowing for early, accurate, and data-driven clinical decision-making. This review provides an overview of how machine learning (ML), deep learning, and emerging multimodal foundation models have been used in diagnostic procedures across imaging, pathology, molecular analysis, physiological monitoring, and electronic health record (EHR)-integrated decision-support systems. We have discussed the basic computational foundations of supervised, unsupervised, and reinforcement learning and have also shown the importance of data curation, validation metrics, interpretability methods, and feature engineering. The use of AI in many different applications has shown that it can find abnormalities and integrate some features from multi-omics and imaging, which has shown improvements in prognostic modeling. However, concerns about data heterogeneity, model drift, bias, and strict regulatory guidelines still remain and are yet to be addressed in this field. Looking forward, future advancements in federated learning, generative AI, and low-resource diagnostics will pave the way for adaptable and globally accessible AI-assisted diagnostics. Full article

Recent advances in deep learning have had a significant impact on biomedical applications, driving precise actions in automated diagnostic processes. However, integrating neural networks into medical devices requires meeting strict requirements regarding computing power, energy efficiency, reconfigurability, and latency, essential conditions for real-time inference. Field-Programmable Gate Array (FPGA) architectures provide a high level of flexibility, performance, and parallel execution, thus making them a suitable option for the real-world implementation of machine learning (ML) and deep learning (DL) models in systems dedicated to the analysis of physiological signals. This paper presents a review of intelligent algorithms for electrocardiogram (ECG) signal classification, including Support Vector Machines (SVMs), Artificial Neural Networks (ANNs), Recurrent Neural Networks (RNNs), Long Short-Term Memory Networks (LSTMs), and Convolutional Neural Networks (CNNs), which have been implemented on FPGA platforms. A comparative evaluation of the performances of these hardware-accelerated solutions is provided, focusing on their classification accuracy. At the same time, the FPGA families used are analyzed, along with the reported performances in terms of operating frequency, power consumption, and latency, as well as the optimization strategies applied in the design of deep learning hardware accelerators. The conclusions emphasize the popularity and efficiency of CNN architectures in the context of ECG signal classification. The study aims to offer a current overview and to support specialists in the field of FPGA design and biomedical engineering in the development of accelerators dedicated to physiological signals analysis. Full article

Infectious diseases caused by bacterial and viral pathogens remain a major global threat, particularly in areas with limited diagnostic resources. Conventional optical techniques are time-consuming, prone to operator errors, and require sophisticated instruments. Colorimetric biosensors, which convert biorecognitive processes into visible color changes, enable simple and low-cost point-of-care testing. Artificial intelligence (AI) enhances decision-making by enabling learning, training, and pattern recognition. Machine learning (ML) and deep learning (DL) improve diagnostic accuracy, but they do not autonomously adapt and are pre-trained on complex color variation, whereas traditional computer-based methods lack analysis ability. This review summarizes major pathogens in terms of their types, toxicity, and infection-related mortality, while highlighting research gaps between conventional optical biosensors and emerging AI-assisted colorimetric approaches. Recent advances in AI models, such as ML and DL algorithms, are discussed with a focus on their applications to clinical samples over the past five years. Finally, we propose a prospective direction for developing robust, explainable, and smartphone-compatible AI-assisted assays to support rapid, accurate, and user-friendly pathogen detection for health and clinical applications. This review provides a comprehensive overview of the AI models available to assist physicians and researchers in selecting the most effective method for pathogen detection. Full article

Background: Osteoporosis and osteopenia are prevalent bone diseases characterized by reduced bone mineral density (BMD) and an increased risk of fractures, particularly in postmenopausal women. While dual-energy X-ray absorptiometry (DXA) remains the gold standard for diagnosis, it has limitations regarding accessibility, cost, and predictive capacity for fracture risk. Machine learning (ML) approaches offer an opportunity to develop automated and more accurate diagnostic models by incorporating both BMD values and clinical variables. Method: This study retrospectively analyzed BMD data from 142 postmenopausal women, classified into 3 diagnostic groups: normal, osteopenia, and osteoporosis. Various supervised ML algorithms—including Support Vector Machines (SVM), k-Nearest Neighbors (k-NN), Decision Trees (DT), Naive Bayes (NB), Linear Discriminant Analysis (LDA), and Artificial Neural Networks (ANN)—were applied. Feature selection techniques such as ANOVA, CHI2, MRMR, and Kruskal–Wallis were used to enhance model performance, reduce dimensionality, and improve interpretability. Model performance was evaluated using 10-fold cross-validation based on accuracy, true positive rate (TPR), false negative rate (FNR), and AUC values. Results: Among all models and feature selection combinations, SVM with ANOVA-selected features achieved the highest classification accuracy (94.30%) and 100% TPR for the normal class. Feature sets based on traditional diagnostic regions (L1–L4, femoral neck, total femur) also showed high accuracy (up to 90.70%) but were generally outperformed by statistically selected features. CHI2 and MRMR methods also yielded robust results, particularly when paired with SVM and k-NN classifiers. The results highlight the effectiveness of combining statistical feature selection with ML to enhance diagnostic precision for osteoporosis and osteopenia. Conclusions: Machine learning algorithms, when integrated with data-driven feature selection strategies, provide a promising framework for automated classification of osteoporosis and osteopenia based on BMD data. ANOVA emerged as the most effective feature selection method, yielding superior accuracy across all classifiers. These findings support the integration of ML-based decision support tools into clinical workflows to facilitate early diagnosis and personalized treatment planning. Future studies should explore more diverse and larger datasets, incorporating genetic, lifestyle, and hormonal factors for further model enhancement. Full article

Acute lymphoblastic leukemia (ALL) is a genetically heterogeneous disease where current clinical practice guidelines remain focused on traditional cytogenetic markers. Despite recent advances demonstrating excellent diagnostic accuracy for gene expression signatures, a discontinuity exists between biomarker validation and clinical implementation. This study aimed to develop and validate a multiparametric gene expression signature using digital PCR (dPCR) to accurately diagnose pediatric ALL, with potential utility for monitoring measurable residual disease (MRD). We analyzed 130 bone marrow aspirates from pediatric patients from four clinical groups: non-leukemia, MRD-negative, MRD-positive and leukemia characterized by immunophenotype. Gene expression of an 8-gene panel (JUP, MYC, NT5C3B, GATA3, PTK7, CNP, ICOSLG, and SNAI1) was quantified by dPCR. The diagnostic performance of individual markers was assessed, and a Random Forest machine learning model was trained to classify active disease. The model was validated using a 5-fold stratified cross-validation approach. Individual markers, particularly JUP, MYC, and NT5C3B, showed good diagnostic accuracy for distinguishing leukemia from non-leukemia. However, integrating all eight markers into a multivariate Random Forest model significantly enhanced performance. The model achieved a mean cross-validated area under the curve (AUC) of 0.908 (±0.041) on receiver operator characteristic (ROC) analysis and 0.961 (±0.019) on Precision–Recall (PR) analysis, demonstrating high reliability and a favorable balance between sensitivity and precision. The integrated model achieved high sensitivity (88.9%) for detecting active disease, particularly at initial diagnosis. Although specificity was moderate (65.0%), the high positive predictive value (PPV 85.1%) and accuracy (81.5%) confirm the clinical utility of a positive result. While the panel showed promising performance for distinguishing MRD-positive from MRD-negative samples, the limited MRD-positive cohort size (n = 11) indicates that validation in larger MRD-focused studies is required before clinical implementation for treatment monitoring. This dPCR-based platform provides accessible, quantitative detection without requiring knowledge of clonal shifts or specific genomic landscape, offering potential advantages for resource-limited settings such as those represented in our Mexican pediatric cohort. Full article

Recently, extracellular vesicles (EVs) have emerged as pivotal mediators of intercellular communication that reflect physiological homeostasis and pathological alterations. By encapsulating diverse biomolecules, including proteins, nucleic acids, and lipids, EVs mirror the molecular signatures of their parent cells, thereby positioning EV-based biosensing as a transformative platform for noninvasive diagnostics, prognostic prediction, and therapeutic monitoring. This review provides a comprehensive overview of the current state and clinical translation of EV biosensing technologies. Herein, we have discussed ongoing efforts toward standardization and analytical validation (e.g., MISEV2023 and EV-TRACK) and evaluated advances in sensing modalities such as surface plasmon resonance (SPR), electrochemical, fluorescence, and magnetic detection systems, which have significantly improved analytical performance in terms of sensitivity and specificity. Furthermore, we highlight recent developments in multiplexed and multiomics integration at the single-EV level and the application of machine learning to enhance diagnostic accuracy and interpret biological heterogeneity. The clinical relevance of EV biosensing has been explored across multiple disease domains, including oncology, neurology, and cardiometabolic and infectious diseases, with an emphasis on translational progress toward standardized, regulatory-compliant, and scalable platforms. Finally, this review identifies key challenges in manufacturing scale-up, quality control, and point-of-care deployment and proposes a unified framework to accelerate the adoption of EV biosensing as a cornerstone of next-generation precision diagnostics and personalized medicine. Full article

Asthma is a common chronic disease in children, contributing to significant morbidity and healthcare utilization worldwide. The integration of artificial intelligence (AI) and machine learning (ML) into pediatric asthma care is rapidly advancing, offering new opportunities for early diagnosis, risk stratification, and personalized management. AI-driven tools can analyze complex clinical, genetic, and environmental data to identify asthma phenotypes and endotypes, predict exacerbations, and support timely interventions. In pediatric populations, these technologies enable non-invasive diagnostic approaches, remote monitoring through wearable devices, and improved medication adherence via smart inhalers and digital health platforms. Despite these advances, challenges remain, including the need for pediatric-specific datasets, transparency in AI decision-making, and careful attention to data privacy and equity. The integration of AI in pediatric asthma care and into the clinical decision system can offer personalized treatment plans, reducing the burden of the disease both for patients and health professionals. This is a narrative review on the applications of AI and ML in pediatric asthma care. Full article

Artificial intelligence (AI) and machine learning (ML) are transforming medical diagnostics, but human nail, an easily accessible and rich biological substrate, is still not fully exploited in the digital health field. Nail pathologies are easily diagnosed, non-invasive disease biomarkers, including systemic diseases such as anemia, diabetes, psoriasis, melanoma, and fungal diseases. This review presents the first big synthesis of image analysis for nail lesions incorporating AI/ML for diagnostic purposes. Where dermatological reviews to date have been more wide-ranging in scope, our review will focus specifically on diagnosis and screening related to nails. The various technological modalities involved (smartphone imaging, dermoscopy, Optical Coherence Tomography) will be presented, together with the different processing techniques for images (color corrections, segmentation, cropping of regions of interest), and models that range from classical methods to deep learning, with annotated descriptions of each. There will also be additional descriptions of AI applications related to some diseases, together with analytical discussions regarding real-world impediments to clinical application, including scarcity of data, variations in skin type, annotation errors, and other laws of clinical adoption. Some emerging solutions will also be emphasized: explainable AI (XAI), federated learning, and platform diagnostics allied with smartphones. Bridging the gap between clinical dermatology, artificial intelligence and mobile health, this review consolidates our existing knowledge and charts a path through yet others to scalable, equitable, and trustworthy nail based medically diagnostic techniques. Our findings advocate for interdisciplinary innovation to bring AI-enabled nail analysis from lab prototypes to routine healthcare and global screening initiatives. Full article

Background: Early diagnosis of Alzheimer’s disease (AD) is essential for slowing disease progression and mitigating cognitive decline. However, conventional diagnostic methods are often invasive, time-consuming, and costly, limiting their utility in large-scale screening. There is an urgent need for scalable, non-invasive, and accessible screening tools. Methods: We propose a novel screening framework combining a pre-trained multimodal large language model with structured MMSE speech tasks. An artificial intelligence-assisted multilingual Mini-Mental State Examination system (AAM-MMSE) was utilized to collect voice data from 1098 participants in Sichuan and Chongqing. CosyVoice2 was used to extract speaker embeddings, speech labels, and acoustic features, which were converted into statistical representations. Fourteen machine learning models were developed for subject classification into three diagnostic categories: Healthy Control (HC), Mild Cognitive Impairment (MCI), and Alzheimer’s Disease (AD). SHAP analysis was employed to assess the importance of the extracted speech features. Results: Among the evaluated models, LightGBM and Gradient Boosting classifiers exhibited the highest performance, achieving an average AUC of 0.9501 across classification tasks. SHAP-based analysis revealed that spectral complexity, energy dynamics, and temporal features were the most influential in distinguishing cognitive states, aligning with known speech impairments in early-stage AD. Conclusions: This framework offers a non-invasive, interpretable, and scalable solution for cognitive screening. It is suitable for both clinical and telemedicine applications, demonstrating the potential of speech-based AI models in early AD detection. Full article

Background: Artificial intelligence (AI) is transforming medicine by supporting data-driven diagnosis, prognosis, and personalized care. In rheumatology, AI applications are rapidly expanding in imaging, disease monitoring, and therapeutic decision support. This review aimed to summarize current evidence on AI in osteoporosis and chronic inflammatory rheumatic diseases, with a focus on methodological robustness and clinical applicability. Methods: A narrative review was conducted following SANRA criteria. PubMed and the Cochrane Library were systematically searched for studies published between January 2015 and July 2025 using MeSH terms and free-text keywords related to AI, osteoporosis, and inflammatory rheumatic diseases. A total of 323 articles were included. Results: Machine learning and deep learning models show strong performance in osteoporosis for predicting bone mineral density (BMD), bone loss, and fractures. In chronic inflammatory rheumatic diseases, AI improves imaging interpretation, particularly for sacroiliitis. AI tools also demonstrate potential for predicting disease risk and activity, diagnostic support and treatment response. Hybrid models combining imaging, clinical, and biological data appear particularly promising. However, most studies rely on retrospective single-center datasets, with limited external validation, suboptimal explainability, and scarce evidence of real-world implementation. Conclusions: AI holds significant promise for advancing diagnosis and personalized management in osteoporosis and rheumatic diseases. However, major challenges persist, including heterogeneous data quality, inconsistent methodological reporting, limited clinical validation, and barriers to integration into routine practice. Bridging the gap between algorithmic performance and clinical impact will require prospective studies, robust validation frameworks, and strategies to build trust among clinicians and patients. Full article

Background/Objectives: Traditional semen analysis techniques frequently result in incorrect male infertility diagnoses, despite advancements in assisted reproductive technology (ART). Reduced fertilization potential, decreased embryo development, and lower pregnancy success rates are associated with elevated DNA Fragmentation Index (DFI), which has been proposed as a diagnostic indicator of sperm DNA integrity. Improving reproductive outcomes requires incorporating DFI into predictive models due to its diagnostic importance. Methods: In this study, semen samples were stratified into low and high DFI groups across two datasets: the “Reference” dataset (162 samples) containing sperm motility (A, B, and C), total sperm count, and morphology percentage, and the “ORP” dataset (37 samples) with the same features plus oxidation-reduction potential (ORP). We trained and evaluated four machine learning (ML) models—Logistic Regression, Support Vector Machines (SVM), Bernoulli Naive Bayes (BNB), and Random Forest (RF)- using three feature subsets and three preprocessing techniques (Robust Scaling, Min-Max Scaling, and Standard Scaling). Results: Feature subset selection had a significant impact on model performance, with the full feature set (X_all) yielding the best results, and the combination of Robust and MinMax scaling forming the most effective preprocessing pipeline. Conclusions: ORP proved to be a critical feature, enhancing model generalization and prediction performance. These findings suggest that data enrichment, particularly with ORP, could enable the development of ML frameworks that improve prognostic precision and patient outcomes in ART. Full article

Background and Objectives: Radiomics and artificial intelligence (AI) offer emerging quantitative tools for enhancing the diagnostic evaluation of testicular cancer. Conventional imaging—ultrasound (US), magnetic resonance imaging (MRI), and computed tomography (CT)—remains central to management but has limited ability to characterize tumor subtypes, detect occult nodal disease, or differentiate necrosis, teratoma, and viable tumor in post-chemotherapy residual masses. This systematic review summarizes current advances in radiomics and AI for both primary tumors and retroperitoneal disease. Materials and Methods: A systematic search of PubMed, Scopus, and Web of Science identified studies applying radiomics or AI to testicular tumors, retroperitoneal lymph nodes and post-chemotherapy residual masses. Eligible studies included quantitative imaging analyses performed on ultrasound, MRI, and CT, with optional integration of clinical or molecular biomarkers. Eighteen studies met inclusion criteria and were evaluated with respect to methodological design, diagnostic performance, and translational readiness. Results: Across modalities, radiomics demonstrated encouraging discriminatory capacity, with accuracies of 74–82% for ultrasound, 80.7–97.9% for MRI, and 71.7–85.3% for CT. CT-based radiomics for post-chemotherapy residual masses showed moderate ability to distinguish necrosis/fibrosis, teratoma, and viable germ-cell tumor, though heterogeneous methodologies and limited external validation constrained generalizability. The strongest performance was observed in multimodal approaches: integrating radiomics with clinical variables or circulating microRNAs improved accuracy by up to 12% and 15%, respectively, mirroring gains reported in other oncologic radiomics applications. Persisting variability in segmentation practices, acquisition protocols, feature extraction, and machine-learning methods highlights ongoing barriers to reproducibility. Conclusions: Radiomics and AI-enhanced frameworks represent promising adjuncts for improving the noninvasive evaluation of testicular cancer, particularly when combined with clinical or molecular biomarkers. Future progress will depend on standardized imaging protocols, harmonized radiomics pipelines, and multicenter prospective validation. With continued methodological refinement and clinical integration, radiomics may support more precise risk stratification and reduce unnecessary interventions in testicular cancer. Full article