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Meng S, Li X, Zhang J, Cheng X. Development and Validation of an Anoikis-Related Gene Signature for Prognostic Prediction in Cervical Cancer. Int J Gen Med 2025; 18:2861-2879. [PMID: 40492231 PMCID: PMC12146097 DOI: 10.2147/ijgm.s508059] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/10/2024] [Accepted: 05/10/2025] [Indexed: 06/11/2025] Open
Abstract
Background Cervical cancer still has high incidence and mortality rates worldwide. This study aimed to evaluate the prognostic value of anoikis-related genes (ARGs) and develop a risk scoring model for accurate survival prediction in cervical cancer patients. Methods The expression profiles of cervical cancer tissue and survival data were downloaded from TCGA-CESC and CGCI-HTMCP-CC. We identified 83 ARGs significantly associated with patients' survival. Subsequently, we developed a risk-scoring model based on 10 key genes. We assessed the predictive performance of our model by survival analysis, ROC curve analysis, and a nomogram that incorporated clinical factors. Additionally, we validated the expression of Granzyme B (GZMB) by immunohistochemical staining. Furthermore, we compared the biological processes and pathway enrichment in high-risk and low-risk patient groups, using differential gene expression and functional enrichment analysis. Finally, we investigated the immune microenvironment of patients in both high-risk and low-risk groups. Results Patients in the high-risk group had significantly poorer survival compared to those in the low-risk group. The immunohistochemical results suggested that GZMB was associated with the prognosis of cervical cancer patients. The risk scoring model showed high accuracy in predicting the prognosis of cervical cancer patients. Differential gene expression analysis revealed enriched pathways related to tumor invasion and metastasis in the high-risk group. Conversely, the low-risk group showed a strong association with the activation of immune response pathways. Conclusion This study concluded that anoikis-related genes played a crucial role in determining the prognosis of individuals with cervical cancer. This discovery not only presented potential biomarkers but also provided valuable insights for informing treatment strategies. The risk scoring model may assist clinicians in better identifying high-risk patients and personalizing treatment plans.
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Affiliation(s)
- Silu Meng
- Department of Gynecologic Oncology, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of China
- Department of Gynecologic Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, People’s Republic of China
| | - Xiangqin Li
- Xiangya Hospital, Zhongnan University, Changsha, Hunan, People’s Republic of China
| | - Jianwei Zhang
- Department of Gynecologic Oncology, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of China
| | - Xiaodong Cheng
- Department of Gynecologic Oncology, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of China
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Sakkal M, Hajal AA. Machine learning predictions of tumor progression: How reliable are we? Comput Biol Med 2025; 191:110156. [PMID: 40245687 DOI: 10.1016/j.compbiomed.2025.110156] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2024] [Revised: 03/06/2025] [Accepted: 04/04/2025] [Indexed: 04/19/2025]
Abstract
BACKGROUND Cancer continues to pose significant challenges in healthcare due to the complex nature of tumor progression. In this digital era, artificial intelligence has emerged as a powerful tool that can potentially transform multiple aspects of cancer care. METHODS In the current study, we conducted a comprehensive literature search across databases such as PubMed, Scopus, and IEEE Xplore. Studies published between 2014 and 2024 were considered. The selection process involved a systematic screening based on predefined inclusion and exclusion criteria. Studies were included if they focused on applying machine learning techniques for tumor progression modeling, diagnosis, or prognosis, were published in peer-reviewed journals or conference proceedings, were available in English, and presented experimental results, simulations, or real-world applications. In total, 87 papers were included in this review, ensuring a diverse and representative analysis of the field. A workflow is included to illustrate the procedure followed to achieve this aim. RESULTS This review delves into the cutting-edge applications of machine learning (ML), including supervised learning methods like Support Vector Machines and Random Forests, as well as advanced deep learning (DL). It focuses on the integration of ML into oncological research, particularly its application in tumor progression through the tumor microenvironment, genetic data, histopathological data, and radiological data. This work provides a critical analysis of the challenges associated with the reliability and accuracy of ML models, which limit their clinical integration. CONCLUSION This review offers expert insights and strategies to address these challenges in order to improve the robustness and applicability of ML in real-world oncology settings. By emphasizing the potential for personalized cancer treatment and bridging gaps between technology and clinical needs, this review serves as a comprehensive resource for advancing the integration of ML models into clinical oncology.
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Affiliation(s)
- Molham Sakkal
- College of Pharmacy, Al Ain University, Abu Dhabi, United Arab Emirates; AAU Health and Biomedical Research Center, Al Ain University, Abu Dhabi, United Arab Emirates
| | - Abdallah Abou Hajal
- College of Pharmacy, Al Ain University, Abu Dhabi, United Arab Emirates; AAU Health and Biomedical Research Center, Al Ain University, Abu Dhabi, United Arab Emirates.
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Schiebler ML, Jinzaki M, Yanagawa M, Pourmorteza A, Yamada Y, Kato Y, Wada N, Schaefer-Prokop C, Dousset V, Tomiyama N, Prokop M, Lima JA, Hatabu H. Future Applications of Cardiothoracic CT. Radiology 2025; 315:e240085. [PMID: 40492912 DOI: 10.1148/radiol.240085] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/12/2025]
Abstract
Radiologists are witnessing astonishing innovation and advancement of CT technologies and their clinical applications. This review highlights how photon-counting CT (PCCT), upright CT, and artificial intelligence (AI) may impact cardiothoracic CT applications for imaging and diagnosis. PCCT relies on new detectors that can bin the separate photon energies and allow for lower radiation dose and better spatial resolution. The clinical applications of PCCT in the coronary arteries are becoming the new standard for cardiac CT imaging. New upright CT has shown the benefits of imaging in the upright position and offers new insight into how the upright position affects biomechanics and physiology. Four-dimensional CT, which can be used to directly image perfusion, is challenging MRI and MR angiography for primacy in this area. The burgeoning role of AI and informatics is changing the way radiologists interpret and report many imaging examinations. The future is bright and promises lower radiation and intravenous contrast agent doses and higher spatial resolution, and will further incorporate deep learning to improve the effectiveness of CT.
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Affiliation(s)
- Mark L Schiebler
- Department of Radiology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI 53792
| | - Masahiro Jinzaki
- Department of Radiology, Keio University School of Medicine, Tokyo, Japan
| | - Masahiro Yanagawa
- Department of Radiology, Graduate School of Medicine, Osaka University, Suita, Japan
| | - Amir Pourmorteza
- Department of Radiology and Imaging Sciences, Emory University, Atlanta, Ga
| | - Yoshitake Yamada
- Department of Radiology, Keio University School of Medicine, Tokyo, Japan
| | - Yoko Kato
- Division of Cardiology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Md
| | - Noriaki Wada
- Department of Clinical Radiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | | | | | - Noriyuki Tomiyama
- Diagnostic and Interventional Radiology, Department of Radiology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Mathias Prokop
- Department of Radiology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
| | - João A Lima
- Division of Cardiology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Md
| | - Hiroto Hatabu
- Center for Pulmonary Functional Imaging, Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, Mass
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4
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Greene CS, Gignoux CR, Subirana-Granés M, Pividori M, Hicks SC, Ackert-Bicknell CL. Can AI reveal the next generation of high-impact bone genomics targets? Bone Rep 2025; 25:101839. [PMID: 40225702 PMCID: PMC11986539 DOI: 10.1016/j.bonr.2025.101839] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/08/2025] [Revised: 03/18/2025] [Accepted: 03/23/2025] [Indexed: 04/15/2025] Open
Abstract
Genetic studies have revealed hundreds of loci associated with bone-related phenotypes, including bone mineral density (BMD) and fracture risk. However, translating discovered loci into effective new therapies remains challenging. We review success stories including PCSK9-related drugs in cardiovascular disease and evidence supporting the use of human genetics to guide drug discovery, while highlighting advances in artificial intelligence and machine learning with the potential to improve target discovery in skeletal biology. These strategies are poised to improve how we integrate diverse data types, from genetic and electronic health records data to single-cell profiles and knowledge graphs. Such emerging computational methods can position bone genomics for a future of more precise, effective treatments, ultimately improving the outcomes for patients with common and rare skeletal disorders.
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Affiliation(s)
- Casey S. Greene
- Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA
- Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
| | - Christopher R. Gignoux
- Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA
- Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
| | - Marc Subirana-Granés
- Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA
| | - Milton Pividori
- Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA
- Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
| | - Stephanie C. Hicks
- Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
- Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
- Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA
- Malone Center for Engineering in Healthcare, Johns Hopkins University, Baltimore, MD, USA
| | - Cheryl L. Ackert-Bicknell
- Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA
- Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
- Colorado Program for Musculoskeletal Research, Department of Orthopedics, University of Colorado School of Medicine, Aurora, CO, USA
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Lam VK, Byers JM, Robitaille MC, Kaler L, Christodoulides JA, Raphael MP. A self-supervised learning approach for high throughput and high content cell segmentation. Commun Biol 2025; 8:780. [PMID: 40399569 PMCID: PMC12095644 DOI: 10.1038/s42003-025-08190-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Accepted: 05/07/2025] [Indexed: 05/23/2025] Open
Abstract
In principle, ML/AI-based algorithms should enable rapid and accurate cell segmentation in high-throughput settings. However, reliance on large training datasets, human input, computational expertise, and limited generalizability has prevented this goal of completely automated, high-throughput segmentation from being achieved. To overcome these roadblocks, we introduce an innovative self-supervised learning method (SSL) for pixel classification that does not require parameter tuning or curated data sets, and instead trains itself on the end-users' own data in a completely automated fashion, thus providing a more efficient cell segmentation approach for high-throughput, high-content image analysis. We demonstrate that our algorithm meets the criteria of being fully automated with versatility across various magnifications, optical modalities, and cell types. Moreover, our SSL algorithm is capable of identifying complex cellular structures and organelles, which are otherwise easily missed, thereby broadening the machine learning applications to high-content imaging. Our SSL technique displayed consistently high F1 scores across segmented cell images, with scores ranging from 0.771 to 0.888, matching or outperforming the popular Cellpose algorithm, which showed a greater F1 variance of 0.454 to 0.882, primarily due to more false negatives.
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Affiliation(s)
- Van K Lam
- US Naval Research Laboratory, Washington, DC, USA
| | - Jeff M Byers
- US Naval Research Laboratory, Washington, DC, USA
| | | | - Logan Kaler
- US Naval Research Laboratory, Washington, DC, USA
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Nambiar R, Bhat R, Achar H V B. Advancements in Hematologic Malignancy Detection: A Comprehensive Survey of Methodologies and Emerging Trends. ScientificWorldJournal 2025; 2025:1671766. [PMID: 40421320 PMCID: PMC12103971 DOI: 10.1155/tswj/1671766] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2024] [Accepted: 04/24/2025] [Indexed: 05/28/2025] Open
Abstract
The investigation and diagnosis of hematologic malignancy using blood cell image analysis are major and emerging subjects that lie at the intersection of artificial intelligence and medical research. This survey systematically examines the state-of-the-art in blood cancer detection through image-based analysis, aimed at identifying the most effective computational strategies and highlighting emerging trends. This review focuses on three principal objectives, namely, to categorize and compare traditional machine learning (ML), deep learning (DL), and hybrid learning approaches; to evaluate performance metrics such as accuracy, precision, recall, and area under the ROC curve; and to identify methodological gaps and propose directions for future research. Methodologically, we organize the literature by categorizing the malignancy types-leukemia, lymphoma, and multiple myeloma-and particularizing the preprocessing steps, feature extraction techniques, network architectures, and ensemble strategies employed. For ML methods, we discuss classical classifiers including support vector machines and random forests; for DL, we analyze convolutional neural networks (e.g., AlexNet, VGG, and ResNet) and transformer-based models; and for hybrid systems, we examine combinations of CNNs with attention mechanisms or traditional classifiers. Our synthesis reveals that DL models consistently outperform ML baselines, achieving classification accuracies above 95% in benchmark datasets, with hybrid models pushing peak accuracy to 99.7%. However, challenges remain in data scarcity, class imbalance, and generalizability to clinical settings. We conclude by recommending the integration of multimodal data, semisupervised learning, and rigorous external validation to advance toward deployable diagnostic tools. This survey also provides a comprehensive roadmap for researchers and clinicians striving to harness AI for reliable hematologic cancer detection.
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Affiliation(s)
- Rajashree Nambiar
- Department of Robotics and AI Engineering, NMAM Institute of Technology, NITTE (Deemed to be University), Nitte, India
| | - Ranjith Bhat
- Department of Robotics and AI Engineering, NMAM Institute of Technology, NITTE (Deemed to be University), Nitte, India
| | - Balachandra Achar H V
- Department of Electronics and Communication Engineering, Manipal Institute of Technology Bengaluru, Manipal Academy of Higher Education, Manipal, India
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Li X, Huang X, Shen Y, Yu S, Zheng L, Cai Y, Yang Y, Zhang R, Zhu L, Wang E. Machine learning for grading prediction and survival analysis in high grade glioma. Sci Rep 2025; 15:16955. [PMID: 40374673 PMCID: PMC12081730 DOI: 10.1038/s41598-025-01413-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2025] [Accepted: 05/06/2025] [Indexed: 05/17/2025] Open
Abstract
We developed and validated a magnetic resonance imaging (MRI)-based radiomics model for the classification of high-grade glioma (HGG) and determined the optimal machine learning (ML) approach. This retrospective analysis included 184 patients (59 grade III lesions and 125 grade IV lesions). Radiomics features were extracted from MRI with T1-weighted imaging (T1WI). The least absolute shrinkage and selection operator (LASSO) feature selection method and seven classification methods including logistic regression, XGBoost, Decision Tree, Random Forest (RF), Adaboost, Gradient Boosting Decision Tree, and Stacking fusion model were used to differentiate HGG. Performance was compared on AUC, sensitivity, accuracy, precision and specificity. In the non-fusion models, the best performance was achieved by using the XGBoost classifier, and using SMOTE to deal with the data imbalance to improve the performance of all the classifiers. The Stacking fusion model performed the best, with an AUC = 0.95 (sensitivity of 0.84; accuracy of 0.85; F1 score of 0.85). MRI-based quantitative radiomics features have good performance in identifying the classification of HGG. The XGBoost method outperforms the classifiers in the non-fusion model and the Stacking fusion model outperforms the non-fusion model.
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Affiliation(s)
- Xiangzhi Li
- Taizhou Key Laboratory of Minimally Invasive Interventional Therapy & Artificial Intelligence, Taizhou Branch of Zhejiang Cancer Hospital (Taizhou Cancer Hospital), No.50, Zhenxin Road, Taizhou, 317502, China
- School of Science & School of Medicine, Guangxi University of Science and Technology, Liuzhou, 545006, China
- School of Public Health, Youjiang Medical University For Nationalities, Baise, 533000, China
| | - Xueqi Huang
- School of Science & School of Medicine, Guangxi University of Science and Technology, Liuzhou, 545006, China
| | - Yi Shen
- School of Public Health, Youjiang Medical University For Nationalities, Baise, 533000, China
| | - Sihui Yu
- School of Science & School of Medicine, Guangxi University of Science and Technology, Liuzhou, 545006, China
| | - Lin Zheng
- Taizhou Key Laboratory of Minimally Invasive Interventional Therapy & Artificial Intelligence, Taizhou Branch of Zhejiang Cancer Hospital (Taizhou Cancer Hospital), No.50, Zhenxin Road, Taizhou, 317502, China
| | - Yunxiang Cai
- Taizhou Key Laboratory of Minimally Invasive Interventional Therapy & Artificial Intelligence, Taizhou Branch of Zhejiang Cancer Hospital (Taizhou Cancer Hospital), No.50, Zhenxin Road, Taizhou, 317502, China
| | - Yang Yang
- Department of Radiation Oncology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China
| | - Renyuan Zhang
- Department of International Education College, Hainan Medical University, Haikou, 571199, China
| | - Lingying Zhu
- Taizhou Key Laboratory of Minimally Invasive Interventional Therapy & Artificial Intelligence, Taizhou Branch of Zhejiang Cancer Hospital (Taizhou Cancer Hospital), No.50, Zhenxin Road, Taizhou, 317502, China.
| | - Enyu Wang
- Taizhou Key Laboratory of Minimally Invasive Interventional Therapy & Artificial Intelligence, Taizhou Branch of Zhejiang Cancer Hospital (Taizhou Cancer Hospital), No.50, Zhenxin Road, Taizhou, 317502, China.
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8
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Zhang Y, Guo Q, Li S, Zhang Z, Xiang F, Su W, Wu Y, Yu J, Xie Y, Luo C, Zheng F. Machine Learning Model for Predicting Pheochromocytomas/Paragangliomas Surgery Difficulty: A Retrospective Cohort Study. Ann Surg Oncol 2025:10.1245/s10434-025-17346-1. [PMID: 40343590 DOI: 10.1245/s10434-025-17346-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2025] [Accepted: 04/04/2025] [Indexed: 05/11/2025]
Abstract
OBJECTIVE We aimed to develop a machine learning (ML) model to preoperatively predict surgical difficulty for pheochromocytomas and paragangliomas (PPGLs) using clinical and radiomic features. METHODS In this study, 212 patients with pathologically confirmed PPGLs were retrospectively enrolled and divided into training (n = 148) and validation cohorts (n = 64). Seven ML models (Classification and Regression Tree, K-Nearest Neighbors, Least Absolute Shrinkage and Selection Operator, Naïve Bayes, Random Forest, Support Vector Machine (SVM), and Extreme Gradient Boosting) were trained using clinical parameters alone or combined with radiomics. Model performance was evaluated and compared through accuracy, sensitivity, specificity, F1 score, area under the curve (AUC), calibration curves, and decision curve analysis. Through comprehensive assessment, the optimal integrated model (clinical + radiomics) was identified and its predictive efficacy was subsequently compared with that of the clinical parameter model. Finally, SHapley Additive exPlanations (SHAP) was applied to enhance the interpretability of the optimal model by visualizing feature contributions. RESULTS Among all integrated models, the SVM model exhibited the most prominent performance, achieving AUC values of 0.96 in the training cohort and 0.85 in the validation cohort, while demonstrating statistically significant superiority over the clinical parameter model (p < 0.05). The SHAP analysis revealed that radiomic signature (Rad score) exerted the most substantial influence on the predictive outcomes, with age, body mass index, maximum tumor diameter, and preoperative heart rate also demonstrating statistically significant contributions to the model predictions. CONCLUSION The SVM model integrating clinical and radiomic features effectively predicts PPGL surgical difficulty, aiding preoperative risk stratification and personalized surgical planning to reduce operative risks.
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Affiliation(s)
- Yubing Zhang
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Qikun Guo
- Department of Interventional Radiology, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China
| | - Shurong Li
- Department of Radiology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Zhiqiang Zhang
- Department of Andrology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, Guangdong, People's Republic of China
| | - Fangzheng Xiang
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Wenhui Su
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Yukun Wu
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Jiajie Yu
- Department of Andrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China
| | - Yun Xie
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China.
| | - Cheng Luo
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China.
| | - Fufu Zheng
- Department of Urology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China.
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Sah AK, Elshaikh RH, Shalabi MG, Abbas AM, Prabhakar PK, Babker AMA, Choudhary RK, Gaur V, Choudhary AS, Agarwal S. Role of Artificial Intelligence and Personalized Medicine in Enhancing HIV Management and Treatment Outcomes. Life (Basel) 2025; 15:745. [PMID: 40430173 PMCID: PMC12112836 DOI: 10.3390/life15050745] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/13/2025] [Revised: 04/25/2025] [Accepted: 04/29/2025] [Indexed: 05/29/2025] Open
Abstract
The integration of artificial intelligence and personalized medicine is transforming HIV management by enhancing diagnostics, treatment optimization, and disease monitoring. Advances in machine learning, deep neural networks, and multi-omics data analysis enable precise prognostication, tailored antiretroviral therapy, and early detection of drug resistance. AI-driven models analyze vast genomic, proteomic, and clinical datasets to refine treatment strategies, predict disease progression, and pre-empt therapy failures. Additionally, AI-powered diagnostic tools, including deep learning imaging and natural language processing, improve screening accuracy, particularly in resource-limited settings. Despite these innovations, challenges such as data privacy, algorithmic bias, and the need for clinical validation remain. Successful integration of AI into HIV care requires robust regulatory frameworks, interdisciplinary collaboration, and equitable technology access. This review explores both the potential and limitations of AI in HIV management, emphasizing the need for ethical implementation and expanded research to maximize its impact. AI-driven approaches hold great promise for a more personalized, efficient, and effective future in HIV treatment and care.
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Affiliation(s)
- Ashok Kumar Sah
- Department of Medical Laboratory Sciences, College of Applied & Health Sciences, A’Sharqiyah University, Ibra 400, Oman;
| | - Rabab H. Elshaikh
- Department of Medical Laboratory Sciences, College of Applied & Health Sciences, A’Sharqiyah University, Ibra 400, Oman;
| | - Manar G. Shalabi
- Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakala 72388, Saudi Arabia; (M.G.S.); (A.M.A.)
| | - Anass M. Abbas
- Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakala 72388, Saudi Arabia; (M.G.S.); (A.M.A.)
| | - Pranav Kumar Prabhakar
- Department of Biotechnology, School of Engineering and Technology, Nagaland University, Meriema, Kohima 797004, India;
| | - Asaad M. A. Babker
- Department of Medical Laboratory Sciences, College of Health Sciences, Gulf Medical University, Ajman 4184, United Arab Emirates;
| | - Ranjay Kumar Choudhary
- Department of Medical Laboratory Technology, UIAHS, Chandigarh University, Chandigarh 160036, India
- School of Paramedics and Allied Health Sciences, Centurion University of Technology and Management, R. Sitapur 761211, India
| | - Vikash Gaur
- Meerabai Institute of Technology, Delhi Skill and Entrepreneurship University, New Delhi 110077, India;
| | - Ajab Singh Choudhary
- Department of Medical Laboratory Technology, School of Allied Health Sciences, Noida International University, Greater Noida 203201, India;
| | - Shagun Agarwal
- School of Allied Health Sciences, Galgotias University, Greater Noida 203201, India
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Peng K, Xu S, Li M, Li W, Zou Y, Guo M, Wu X. Strategies for Reducing the Homogenization Phenomenon in the Screening of Key Components in Network Pharmacology Based on the Detectability of Components. RAPID COMMUNICATIONS IN MASS SPECTROMETRY : RCM 2025; 39:e10028. [PMID: 40133219 DOI: 10.1002/rcm.10028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/03/2024] [Revised: 03/07/2025] [Accepted: 03/10/2025] [Indexed: 03/27/2025]
Abstract
BACKGROUND The ingredients of traditional Chinese medicine (TCM) are complex and diverse and are often identified using the TCM systems pharmacology (TCMSP) database. However, the ingredients in this database exhibit significant homogeneity, which limits the comprehensive understanding of TCM's ingredient diversity and biological activity. Consequently, liquid chromatography-mass spectrometry (LC-MS) has become a key tool for the precise identification of TCM components. METHODS In this study, the LC-MS was used to identify the components of a TCM herb. The identified components were then compared with the component data in the TCMSP database. A network pharmacological prediction of the components was subsequently performed. RESULTS An analysis of the four herb formula prescriptions (Ganmai Dazao decoction, Bazhen granule, Shaoyao Gancao decoction, and Zixue san) was conducted, revealing significant discrepancies between the LC-MS identification results and the components in the TCMSP database. The database components were found to be highly homogeneous. CONCLUSION This study underscores the pivotal function of LC-MS in the analysis of components of TCM, particularly in addressing issues of database homogeneity. The employment of LC-MS technology enhances the precision of ingredient identification and streamlines the identification of potential pharmacodynamic ingredients, thereby propelling TCM toward a more contemporary standing.
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Affiliation(s)
- Kaiye Peng
- New Drug Research and Development Center, Guangdong Pharmaceutical University, Guangzhou, China
- Guangdong Provincial Key Laboratory of Advanced Drug Delivery, Guangdong Provincial Engineering Center of Topical Precise Drug Delivery System, Guangdong Pharmaceutical University, Guangzhou, China
| | - Sang Xu
- The Affiliated Yixing Hospital of Jiangsu University, Yixing, China
| | - Minpeng Li
- New Drug Research and Development Center, Guangdong Pharmaceutical University, Guangzhou, China
- Guangdong Provincial Key Laboratory of Advanced Drug Delivery, Guangdong Provincial Engineering Center of Topical Precise Drug Delivery System, Guangdong Pharmaceutical University, Guangzhou, China
| | - Wei Li
- New Drug Research and Development Center, Guangdong Pharmaceutical University, Guangzhou, China
- Guangdong Provincial Key Laboratory of Advanced Drug Delivery, Guangdong Provincial Engineering Center of Topical Precise Drug Delivery System, Guangdong Pharmaceutical University, Guangzhou, China
| | - Yun Zou
- National Medical Products Administration Institute of Executive Development, Beijing, China
| | - Mingxin Guo
- The Affiliated Yixing Hospital of Jiangsu University, Yixing, China
| | - Xia Wu
- New Drug Research and Development Center, Guangdong Pharmaceutical University, Guangzhou, China
- Guangdong Provincial Key Laboratory of Advanced Drug Delivery, Guangdong Provincial Engineering Center of Topical Precise Drug Delivery System, Guangdong Pharmaceutical University, Guangzhou, China
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Chakroborty S, Nath N, Sahoo S, Singh BP, Bal T, Tiwari K, Hailu YK, Singh S, Kumar P, Chakraborty C. A review of emerging trends in nanomaterial-driven AI for biomedical applications. NANOSCALE ADVANCES 2025:d5na00032g. [PMID: 40370571 PMCID: PMC12071765 DOI: 10.1039/d5na00032g] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/09/2025] [Accepted: 04/18/2025] [Indexed: 05/16/2025]
Abstract
The field of artificial intelligence (AI) is expanding quickly. To mimic the structure and biological evolution of the human brain, AI was developed to enable computers to acquire knowledge and manipulate their surroundings. There have been notable developments in the use of AI in healthcare; it can enhance diagnosis and treatment in various medical specialties. The cost of prompt diagnosis and treatment is hampered by the absence of efficient, dependable, and reasonably priced detection and real-time monitoring. Smart health tracking systems integrating AI and nanoscience are an emerging frontier that solves these obstacles. Targeted delivery of drug systems, biosensing, imaging, and other diagnostic and therapeutic fields can widely benefit abundantly from nanoscience in healthcare. AI technology has the potential to expand biomedical applications by analyzing and interpreting biological data, speeding up drug discovery, and identifying novel molecules with predictive behavior. This review outlines the current obstacles and potential opportunities for delivering personal healthcare using AI-assisted clinical decision support systems.
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Affiliation(s)
- Subhendu Chakroborty
- School of Basic Sciences, Department of Chemistry, Chandigarh University Uttar Pradesh Unnao India
| | - Nibedita Nath
- Department of Chemistry, D. S. Degree College Laida Sambalpur 768214 Odisha India
| | - Sameeta Sahoo
- School of Basic Sciences, Department of Chemistry, Chandigarh University Uttar Pradesh Unnao India
| | - Bhanu Pratap Singh
- Department of Computing & Information Sciences, Chandigarh University Uttar Pradesh Unnao India
| | - Trishna Bal
- Department of Pharmaceutical Sciences and Technology, Birla Institute of Technology Mesra Ranchi 835215 India
| | - Karunesh Tiwari
- Department of Physics, Mai Nefhi College of Science, Eritrean Institute of Technology Mai Nefhi Eritrea
| | - Yosief Kasshun Hailu
- Department of Physics, Mai Nefhi College of Science, Eritrean Institute of Technology Mai Nefhi Eritrea
| | - Sunita Singh
- IES College of Education, IES University Bhopal Madhya Pradesh 462044 India
| | - Pravin Kumar
- Inter University Accelerator Centre New Delhi 110067 India
| | - Chandra Chakraborty
- Department of Allied Sciences, Graphic Era (Deemed to be University) Clement Town 248002 Dehradun India
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12
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V A S, Nayak UY, Sathyanarayana MB, Chaudhari BB, Bhat K. Formulation Strategy of BCS-II Drugs by Coupling Mechanistic In-Vitro and Nonclinical In-Vivo Data with PBPK: Fundamentals of Absorption-Dissolution to Parameterization of Modelling and Simulation. AAPS PharmSciTech 2025; 26:106. [PMID: 40244539 DOI: 10.1208/s12249-025-03093-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2024] [Accepted: 03/19/2025] [Indexed: 04/18/2025] Open
Abstract
BCS class II candidates pose challenges in drug development due to their low solubility and permeability. Researchers have explored various techniques; co-amorphous and solid dispersion are major approaches to enhance in-vitro drug solubility and dissolution. However, in-vivo oral bioavailability remains challenging. Physiologically based pharmacokinetic (PBPK) modeling with a detailed understanding of drug absorption, distribution, metabolism, and excretion (ADME) using a mechanistic approach is emerging. This review summarizes the fundamentals of the PBPK, dissolution-absorption models, parameterization of oral absorption for BCS class II drugs, and provides information about newly emerging artificial intelligence/machine learning (AI/ML) linked PBPK approaches with their advantages, disadvantages, challenges and areas of further exploration. Additionally, the fully integrated workflow for formulation design for investigational new drugs (INDs) and virtual bioequivalence for generic molecules falling under BCS-II are discussed.
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Affiliation(s)
- Shriya V A
- Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India
| | - Usha Y Nayak
- Department of Pharmaceutics, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India
| | - Muddukrishna Badamane Sathyanarayana
- Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India
| | - Bhim Bahadur Chaudhari
- Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India
| | - Krishnamurthy Bhat
- Department of Pharmaceutical Quality Assurance, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
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Binder N, Khavaran A, Sankowski R. Primer on machine learning applications in brain immunology. FRONTIERS IN BIOINFORMATICS 2025; 5:1554010. [PMID: 40313869 PMCID: PMC12043695 DOI: 10.3389/fbinf.2025.1554010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/07/2025] [Accepted: 03/24/2025] [Indexed: 05/03/2025] Open
Abstract
Single-cell and spatial technologies have transformed our understanding of brain immunology, providing unprecedented insights into immune cell heterogeneity and spatial organisation within the central nervous system. These methods have uncovered complex cellular interactions, rare cell populations, and the dynamic immune landscape in neurological disorders. This review highlights recent advances in single-cell "omics" data analysis and discusses their applicability for brain immunology. Traditional statistical techniques, adapted for single-cell omics, have been crucial in categorizing cell types and identifying gene signatures, overcoming challenges posed by increasingly complex datasets. We explore how machine learning, particularly deep learning methods like autoencoders and graph neural networks, is addressing these challenges by enhancing dimensionality reduction, data integration, and feature extraction. Newly developed foundation models present exciting opportunities for uncovering gene expression programs and predicting genetic perturbations. Focusing on brain development, we demonstrate how single-cell analyses have resolved immune cell heterogeneity, identified temporal maturation trajectories, and uncovered potential therapeutic links to various pathologies, including brain malignancies and neurodegeneration. The integration of single-cell and spatial omics has elucidated the intricate cellular interplay within the developing brain. This mini-review is intended for wet lab biologists at all career stages, offering a concise overview of the evolving landscape of single-cell omics in the age of widely available artificial intelligence.
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Affiliation(s)
| | | | - Roman Sankowski
- Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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14
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Cominetti O, Dayon L. Unravelling disease complexity: integrative analysis of multi-omic data in clinical research. Expert Rev Proteomics 2025; 22:149-162. [PMID: 40207843 DOI: 10.1080/14789450.2025.2491357] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/24/2025] [Revised: 03/28/2025] [Accepted: 04/06/2025] [Indexed: 04/11/2025]
Abstract
INTRODUCTION A holistic view on biological systems is today a reality with the application of multi-omic technologies. These technologies allow the profiling of genome, epigenome, transcriptome, proteome, metabolome as well as newly emerging 'omes.' While the multiple layers of data accumulate, their integration and reconciliation in a single system map is a cumbersome exercise that faces many challenges. Application to human health and disease requires large sample sizes, robust methodologies and high-quality standards. AREAS COVERED We review the different methods used to integrate multi-omics, as recent ones including artificial intelligence. With proteomics as an anchor technology, we then present selected applications of its data combination with other omics layers in clinical research, mainly covering literature from the last five years in the Scopus and/or PubMed databases. EXPERT OPINION Multi-omics is powerful to comprehensively type molecular layers and link them to phenotype. Yet, technologies and data are very diverse and still strategies and methodologies to properly integrate these modalities are needed.
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Affiliation(s)
- Ornella Cominetti
- Proteomics, Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland
| | - Loïc Dayon
- Proteomics, Nestlé Institute of Food Safety & Analytical Sciences, Nestlé Research, Lausanne, Switzerland
- Institut des Sciences et Ingénierie Chimiques, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland
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15
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Savaştaer EF, Çelik B, Çelik ME. Automatic detection of developmental stages of molar teeth with deep learning. BMC Oral Health 2025; 25:465. [PMID: 40169944 PMCID: PMC11960008 DOI: 10.1186/s12903-025-05827-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/21/2025] [Accepted: 03/17/2025] [Indexed: 04/03/2025] Open
Abstract
BACKGROUND The aim was to fully automate molar teeth developmental staging and to comprehensively analyze a wide range of deep learning models' performances for molar tooth germ detection on panoramic radiographs. METHODS The dataset consisted of 210 panoramic radiographies. The data were obtained from patients aged between 5 and 25 years. The stages of development of molar teeth were divided into 4 classes such as M1, M2, M3 and M4. 9 different convolutional neural network models, which were Cascade R-CNN, YOLOv3, Hybrid Task Cascade(HTC), DetectorRS, SSD, EfficientNet, NAS-FPN, Deformable DETR and Probabilistic Anchor Assignment(PAA), were used for automatic detection of these classes. Performances were evaluated by mAP for detection localization performance and confusion matrices, giving metrics of accuracy, precision, recall and F1-scores for classification part. RESULTS Localization performance of the models varied between 0.70 and 0.86 while average accuracy for all classes was between 0.71 and 0.82. The Deformable DETR model provided the best performance with mAP, accuracy, recall and F1-score as 0.86, 0.82, 0.86 and 0.86 respectively. CONCLUSIONS Molar teeth were automatically detected and categorized by modern artificial intelligence techniques. Findings demonstrated that detection and classification ability of deep learning models were promising for molar teeth development staging. Automated systems have a potential to alleviate the burden and assist dentists. TRIAL REGISTRATION This is retrospectively registered with the number 2023-1216 by the university ethical committee.
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Affiliation(s)
- Ertuğrul Furkan Savaştaer
- Electrical Electronics Engineering Department, Faculty of Engineering, Gazi University, Ankara, Turkey
| | - Berrin Çelik
- Oral and Maxillofacial Radiology Department, Faculty of Dentistry, Ankara Yıldırım Beyazıt University, Ankara, Turkey
| | - Mahmut Emin Çelik
- Electrical Electronics Engineering Department, Faculty of Engineering, Gazi University, Ankara, Turkey.
- Biomedical Calibration and Research Center, Gazi University, Ankara, Turkey.
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16
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Peng J, Li Y, Liu C, Mao Z, Kang H, Zhou F. Predicting multiple organ dysfunction syndrome in trauma-induced sepsis: Nomogram and machine learning approaches. JOURNAL OF INTENSIVE MEDICINE 2025; 5:193-201. [PMID: 40241829 PMCID: PMC11997582 DOI: 10.1016/j.jointm.2024.12.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/13/2024] [Revised: 11/23/2024] [Accepted: 12/12/2024] [Indexed: 04/18/2025]
Abstract
Background Multiple organ dysfunction syndrome (MODS) is a critical complication in trauma-induced sepsis patients and is associated with a high mortality rate. This study aimed to develop and validate predictive models for MODS in this patient population using a nomogram and machine learning approaches. Methods This retrospective cohort study utilized data from the Medical Information Mart for Intensive Care-IV 2.2 database, focusing on trauma patients diagnosed with sepsis within the first day of intensive care unit (ICU) admission. Predictive variables were extracted from the initial 24 h of ICU data. The dataset (2008-2019) was divided into a training set (2008-2016) and a temporal validation set (2017-2019). Feature selection was conducted using the Boruta algorithm. Predictive models were developed and validated using a nomogram and various machine learning techniques. Model performance was evaluated based on discrimination, calibration, and decision curve analysis. Results Among 1295 trauma patients with sepsis, 349 (26.95%) developed MODS. The 28-day mortality rates were 11.21% for non-MODS patients and 23.82% for MODS patients. Key predictors of MODS included the simplified acute physiology score II score, use of mechanical ventilation, and vasopressor administration. In temporal validation, all models significantly outperformed traditional scoring systems (all P <0.05). The nomogram achieved an area under the curve (AUC) of 0.757 (95% confidence interval [CI]: 0.700 to 0.814), while the random forest model demonstrated the highest performance with an AUC of 0.769 (95% CI: 0.712 to 0.826). Calibration plots showed excellent agreement between predicted and observed probabilities, and decision curve analysis indicated a consistently higher net benefit for the newly developed models. Conclusion The nomogram and machine learning models provide enhanced predictive accuracy for MODS in trauma-induced sepsis patients compared to traditional scoring systems. These tools, accessible via web-based applications, have the potential to improve early risk stratification and guide clinical decision-making, ultimately enhancing outcomes for trauma patients. Further external validation is recommended to confirm their generalizability.
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Affiliation(s)
- Jinyu Peng
- Medical School of Chinese PLA, Beijing, China
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Yun Li
- Medical School of Chinese PLA, Beijing, China
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Chao Liu
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Zhi Mao
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Hongjun Kang
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Feihu Zhou
- Medical School of Chinese PLA, Beijing, China
- Department of Critical Care Medicine, The First Medical Centre, Chinese PLA General Hospital, Beijing, China
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Marinov GK, Ramalingam V, Greenleaf WJ, Kundaje A. An updated compendium and reevaluation of the evidence for nuclear transcription factor occupancy over the mitochondrial genome. PLoS One 2025; 20:e0318796. [PMID: 40163815 PMCID: PMC11957562 DOI: 10.1371/journal.pone.0318796] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/24/2024] [Accepted: 01/20/2025] [Indexed: 04/02/2025] Open
Abstract
In most eukaryotes, mitochondrial organelles contain their own genome, usually circular, which is the remnant of the genome of the ancestral bacterial endosymbiont that gave rise to modern mitochondria. Mitochondrial genomes are dramatically reduced in their gene content due to the process of endosymbiotic gene transfer to the nucleus; as a result most mitochondrial proteins are encoded in the nucleus and imported into mitochondria. This includes the components of the dedicated mitochondrial transcription and replication systems and regulatory factors, which are entirely distinct from the information processing systems in the nucleus. However, since the 1990s several nuclear transcription factors have been reported to act in mitochondria, and previously we identified 8 human and 3 mouse transcription factors (TFs) with strong localized enrichment over the mitochondrial genome using ChIP-seq (Chromatin Immunoprecipitation) datasets from the second phase of the ENCODE (Encyclopedia of DNA Elements) Project Consortium. Here, we analyze the greatly expanded in the intervening decade ENCODE compendium of TF ChIP-seq datasets (a total of 6,153 ChIP experiments for 942 proteins, of which 763 are sequence-specific TFs) combined with interpretative deep learning models of TF occupancy to create a comprehensive compendium of nuclear TFs that show evidence of association with the mitochondrial genome. We find some evidence for chrM occupancy for 50 nuclear TFs and two other proteins, with bZIP TFs emerging as most likely to be playing a role in mitochondria. However, we also observe that in cases where the same TF has been assayed with multiple antibodies and ChIP protocols, evidence for its chrM occupancy is not always reproducible. In the light of these findings, we discuss the evidential criteria for establishing chrM occupancy and reevaluate the overall compendium of putative mitochondrial-acting nuclear TFs.
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Affiliation(s)
- Georgi K Marinov
- Department of Genetics, Stanford University, Stanford, California, United States of America
| | | | - William J Greenleaf
- Department of Genetics, Stanford University, Stanford, California, United States of America
- Center for Personal Dynamic Regulomes, Stanford University, Stanford, California, United States of America
- Department of Applied Physics, Stanford University, Stanford, California, United States of America
- Chan Zuckerberg Biohub, San Francisco, California, United States of America
| | - Anshul Kundaje
- Department of Computer Science, Stanford University, Stanford, California, United States of America
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Zhou Y, Wang P, Zhang H, Wang T, Han S, Ma X, Liang S, Bai M, Fan P, Wang L, Wang J, Wang Q. Prediction of influenza virus infection based on deep learning and peripheral blood proteomics: A diagnostic study. J Adv Res 2025:S2090-1232(25)00211-5. [PMID: 40158620 DOI: 10.1016/j.jare.2025.03.051] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2025] [Revised: 03/26/2025] [Accepted: 03/26/2025] [Indexed: 04/02/2025] Open
Abstract
INTRODUCTION Influenza viruses cause seasonal epidemics almost every year, and it is difficult to diagnose quickly and accurately. Machine learning and peripheral blood protein omics have brought new ideas to the research of clinical markers. OBJECTIVES Prediction of key molecular marker of influenza virus infection by the established machine learning model and peripheral blood protein omics. METHODS This study used the testing data of 850 patients (including influenza, COVID-19 and mixed infections) and 265 healthy individuals, to establish and validate a diagnostic prediction model for influenza infection and verified the potential value of this model in the differential diagnosis of influenza, COVID-19 and healthy people. RESULTS The overall analysis showed that there were significant differences in 9 clinical features in the influenza group. Principal component analysis can effectively group samples based on these clinical features. Based on the random forest model and LASSO regression model found that the selected features are clinical indicators that can accurately distinguish influenza patients. We performed proteome sequencing combined with machine learning and found a total of 26 DEPs. Through PPI and WGCNA analysis, we identified several genes related to the proportion of monocytes. We then analyzed the correlation of these factors with immune cell proportions and found that SAA1 and SAA2 were highly correlated with various vital immunocyte. ROC curve analysis shows that SERPINA3 can distinguish influenza, COVID-19, mixed infection and healthy people; SAA1 can distinguish COVID-19, mixed infection and healthy people; SAA2 can distinguish influenza and healthy people. In influenza, high expression of SERPINA3, SAA1, and SAA2 is associated with higher risk. Finally, we used the ELISA method to confirm that SAA2 protein can be used as an auxiliary diagnostic indicator for influenza infection. CONCLUSIONS Preliminary results showed that SAA2 is an important molecular marker specific to influenza infection.
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Affiliation(s)
- Yumei Zhou
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China
| | - Pengbo Wang
- Xinxiang Medical University, Xinxiang, Henan 453003, PR China
| | - Haiyun Zhang
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China; Medical Laboratory Center, Dalian Municipal Women and Children's Medical Center (Group), Dalian, Liaoning 116033, PR China
| | - Taihao Wang
- Capital Medical University, Beijing 100069, PR China
| | - Shuai Han
- Inner Mongolia Medical University, Hohhot, Inner Mongolia 010070, PR China
| | - Xin Ma
- China Railway Construction Corporation, Beijing Tiejian Hospital, Beijing 100039, PR China
| | - Shuang Liang
- Department of Radiology, The Second Affiliated Hospital to Mudanjiang Medical University, Mudanjiang, Heilongjiang 157000, PR China
| | - Minghua Bai
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China
| | - Pengbei Fan
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China
| | - Lei Wang
- Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, Hubei 430065, PR China.
| | - Ji Wang
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China; Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, Hubei 430065, PR China.
| | - Qi Wang
- National Institute of TCM Constitution and Preventive Treatment of Disease, Wangqi Academy of Beijing University of Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, PR China; Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, Hubei 430065, PR China
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Wang PY, Chen ZS, Jiao X, Bao YJ. Integrating Deep Learning Models with Genome-Wide Association Study-Based Identification Enhanced Phenotype Predictions in Group A Streptococcus. J Microbiol Biotechnol 2025; 35:e2411010. [PMID: 40147921 PMCID: PMC11994263 DOI: 10.4014/jmb.2411.11010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/09/2024] [Revised: 01/13/2025] [Accepted: 01/20/2025] [Indexed: 03/29/2025]
Abstract
Group A Streptococcus (GAS) is a major pathogen with diverse clinical outcomes linked to its genetic variability, making accurate phenotype prediction essential. While previous studies have identified many GAS-associated genetic factors, translating these findings into predictive models remains challenging due to data complexity. The current study aimed to integrate deep learning models with genome-wide association study-derived genetic variants to predict pathogenic phenotypes in GAS. We evaluated the performance of several deep neural network models, including CNN, ResNet18, LSTM, and their ensemble approach in predicting GAS phenotypes. It was found that the ensemble model consistently achieved the highest prediction accuracy across phenotypes. Models trained on the full 4722-genotype set outperformed those trained on a reduced 175-genotype set, underscoring the importance of comprehensive variant data in capturing complex genotype-phenotype interactions. Performance changes in the reduced 175-genotype set compared to the full-set genotype scenarios revealed the impact of data dimensionality on model effectiveness, with CNN remaining robust, while ResNet18 and LSTM underperformed. Our findings emphasized the potential of deep learning in phenotype prediction and the critical role of data-model compatibility.
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Affiliation(s)
- Peng-Ying Wang
- School of Life Sciences, Hubei University, Wuhan 430062, P.R. China
| | - Zhi-Song Chen
- School of Life Sciences, Hubei University, Wuhan 430062, P.R. China
| | - Xiaoguo Jiao
- School of Life Sciences, Hubei University, Wuhan 430062, P.R. China
| | - Yun-Juan Bao
- School of Life Sciences, Hubei University, Wuhan 430062, P.R. China
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Xiao W, Jiang W, Chen Z, Huang Y, Mao J, Zheng W, Hu Y, Shi J. Advance in peptide-based drug development: delivery platforms, therapeutics and vaccines. Signal Transduct Target Ther 2025; 10:74. [PMID: 40038239 PMCID: PMC11880366 DOI: 10.1038/s41392-024-02107-5] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2024] [Revised: 11/01/2024] [Accepted: 12/13/2024] [Indexed: 03/06/2025] Open
Abstract
The successful approval of peptide-based drugs can be attributed to a collaborative effort across multiple disciplines. The integration of novel drug design and synthesis techniques, display library technology, delivery systems, bioengineering advancements, and artificial intelligence have significantly expedited the development of groundbreaking peptide-based drugs, effectively addressing the obstacles associated with their character, such as the rapid clearance and degradation, necessitating subcutaneous injection leading to increasing patient discomfort, and ultimately advancing translational research efforts. Peptides are presently employed in the management and diagnosis of a diverse array of medical conditions, such as diabetes mellitus, weight loss, oncology, and rare diseases, and are additionally garnering interest in facilitating targeted drug delivery platforms and the advancement of peptide-based vaccines. This paper provides an overview of the present market and clinical trial progress of peptide-based therapeutics, delivery platforms, and vaccines. It examines the key areas of research in peptide-based drug development through a literature analysis and emphasizes the structural modification principles of peptide-based drugs, as well as the recent advancements in screening, design, and delivery technologies. The accelerated advancement in the development of novel peptide-based therapeutics, including peptide-drug complexes, new peptide-based vaccines, and innovative peptide-based diagnostic reagents, has the potential to promote the era of precise customization of disease therapeutic schedule.
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Affiliation(s)
- Wenjing Xiao
- Department of Pharmacy, The General Hospital of Western Theater Command, Chengdu, 610083, China
| | - Wenjie Jiang
- Department of Pharmacy, Personalized Drug Therapy Key Laboratory of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610072, China
| | - Zheng Chen
- School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, 610031, China
| | - Yu Huang
- School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, 610031, China
| | - Junyi Mao
- School of Chinese Materia Medica, Tianjin University of Traditional Chinese Medicine, Tianjin, 301617, China
| | - Wei Zheng
- Department of Integrative Medicine, Xinqiao Hospital, Army Medical University, Chongqing, 400037, China
| | - Yonghe Hu
- School of Medicine, Southwest Jiaotong University, Chengdu, 610031, China
| | - Jianyou Shi
- Department of Pharmacy, Personalized Drug Therapy Key Laboratory of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610072, China.
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21
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Qi Y, Wang X, Qin LX. Optimizing sample size for supervised machine learning with bulk transcriptomic sequencing: a learning curve approach. Brief Bioinform 2025; 26:bbaf097. [PMID: 40072846 PMCID: PMC11899567 DOI: 10.1093/bib/bbaf097] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2024] [Revised: 01/11/2025] [Accepted: 02/21/2025] [Indexed: 03/14/2025] Open
Abstract
Accurate sample classification using transcriptomics data is crucial for advancing personalized medicine. Achieving this goal necessitates determining a suitable sample size that ensures adequate classification accuracy without undue resource allocation. Current sample size calculation methods rely on assumptions and algorithms that may not align with supervised machine learning techniques for sample classification. Addressing this critical methodological gap, we present a novel computational approach that establishes the accuracy-versus-sample size relationship by employing a data augmentation strategy followed by fitting a learning curve. We comprehensively evaluated its performance for microRNA and RNA sequencing data, considering diverse data characteristics and algorithm configurations, based on a spectrum of evaluation metrics. To foster accessibility and reproducibility, the Python and R code for implementing our approach is available on GitHub. Its deployment will significantly facilitate the adoption of machine learning in transcriptomics studies and accelerate their translation into clinically useful classifiers for personalized treatment.
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Affiliation(s)
- Yunhui Qi
- Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, 633 Third Avenue, New York, NY 10017, United States
- Department of Statistics, Iowa State University, 2438 Osborn Drive, Ames, IA, 50011-1090, United States
| | - Xinyi Wang
- Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, 633 Third Avenue, New York, NY 10017, United States
- Department of Statistics, The University of California, 1 Shields Ave, Davis, CA 95616, United States
| | - Li-Xuan Qin
- Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, 633 Third Avenue, New York, NY 10017, United States
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22
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Venäläinen MS, Biehl A, Holstila M, Kuusalo L, Elo LL. Deep learning enables automatic detection of joint damage progression in rheumatoid arthritis-model development and external validation. Rheumatology (Oxford) 2025; 64:1068-1076. [PMID: 38597875 PMCID: PMC11879318 DOI: 10.1093/rheumatology/keae215] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2023] [Revised: 02/21/2024] [Accepted: 03/26/2024] [Indexed: 04/11/2024] Open
Abstract
OBJECTIVES Although deep learning has demonstrated substantial potential in automatic quantification of joint damage in RA, evidence for detecting longitudinal changes at an individual patient level is lacking. Here, we introduce and externally validate our automated RA scoring algorithm (AuRA), and demonstrate its utility for monitoring radiographic progression in a real-world setting. METHODS The algorithm, originally developed during the Rheumatoid Arthritis 2-Dialogue for Reverse Engineering Assessment and Methods (RA2-DREAM) challenge, was trained to predict expert-curated Sharp-van der Heijde total scores in hand and foot radiographs from two previous clinical studies (n = 367). We externally validated AuRA against data (n = 205) from Turku University Hospital and compared the performance against two top-performing RA2-DREAM solutions. Finally, for 54 patients, we extracted additional radiograph sets from another control visit to the clinic (average time interval of 4.6 years). RESULTS In the external validation cohort, with a root mean square error (RMSE) of 23.6, AuRA outperformed both top-performing RA2-DREAM algorithms (RMSEs 35.0 and 35.6). The improved performance was explained mostly by lower errors at higher expert-assessed scores. The longitudinal changes predicted by our algorithm were significantly correlated with changes in expert-assessed scores (Pearson's R = 0.74, P < 0.001). CONCLUSION AuRA had the best external validation performance and demonstrated potential for detecting longitudinal changes in joint damage. Available from https://hub.docker.com/r/elolab/aura, our algorithm can easily be applied for automatic detection of radiographic progression in the future, reducing the need for laborious manual scoring.
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Affiliation(s)
- Mikko S Venäläinen
- Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland
- Department of Medical Physics, Turku University Hospital, Turku, Finland
| | - Alexander Biehl
- Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland
| | - Milja Holstila
- Department of Radiology, University of Turku and Turku University Hospital, Turku, Finland
| | - Laura Kuusalo
- Centre for Rheumatology and Clinical Immunology, Division of Medicine, University of Turku and Turku University Hospital, Turku, Finland
| | - Laura L Elo
- Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland
- Institute of Biomedicine, University of Turku, Turku, Finland
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Barea Mendoza JA, Valiente Fernandez M, Pardo Fernandez A, Gómez Álvarez J. Current perspectives on the use of artificial intelligence in critical patient safety. Med Intensiva 2025; 49:154-164. [PMID: 38677902 DOI: 10.1016/j.medine.2024.04.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2023] [Accepted: 03/11/2024] [Indexed: 04/29/2024]
Abstract
Intensive Care Units (ICUs) have undergone enhancements in patient safety, and artificial intelligence (AI) emerges as a disruptive technology offering novel opportunities. While the published evidence is limited and presents methodological issues, certain areas show promise, such as decision support systems, detection of adverse events, and prescription error identification. The application of AI in safety may pursue predictive or diagnostic objectives. Implementing AI-based systems necessitates procedures to ensure secure assistance, addressing challenges including trust in such systems, biases, data quality, scalability, and ethical and confidentiality considerations. The development and application of AI demand thorough testing, encompassing retrospective data assessments, real-time validation with prospective cohorts, and efficacy demonstration in clinical trials. Algorithmic transparency and explainability are essential, with active involvement of clinical professionals being crucial in the implementation process.
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Affiliation(s)
- Jesús Abelardo Barea Mendoza
- UCI de Trauma y Emergencias. Servicio de Medicina Intensiva. Hospital Universitario 12 de Octubre. Instituto de Investigación Hospital 12 de Octubre, Spain.
| | - Marcos Valiente Fernandez
- UCI de Trauma y Emergencias. Servicio de Medicina Intensiva. Hospital Universitario 12 de Octubre. Instituto de Investigación Hospital 12 de Octubre, Spain
| | | | - Josep Gómez Álvarez
- Hospital Universitari de Tarragona Joan XXIII. Universitat Rovira i Virgili. Institut d'Investigació Sanitària Pere i Virgili, Tarragona, Spain
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24
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Yin J, Zhang H, Sun X, You N, Mou M, Lu M, Pan Z, Li F, Li H, Zeng S, Zhu F. Decoding Drug Response With Structurized Gridding Map-Based Cell Representation. IEEE J Biomed Health Inform 2025; 29:1702-1713. [PMID: 38090819 DOI: 10.1109/jbhi.2023.3342280] [Citation(s) in RCA: 8] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/08/2025]
Abstract
A thorough understanding of cell-line drug response mechanisms is crucial for drug development, repurposing, and resistance reversal. While targeted anticancer therapies have shown promise, not all cancers have well-established biomarkers to stratify drug response. Single-gene associations only explain a small fraction of the observed drug sensitivity, so a more comprehensive method is needed. However, while deep learning models have shown promise in predicting drug response in cell lines, they still face significant challenges when it comes to their application in clinical applications. Therefore, this study proposed a new strategy called DD-Response for cell-line drug response prediction. First, a limitation of narrow modeling horizons was overcome to expand the model training domain by integrating multiple datasets through source-specific label binarization. Second, a modified representation based on a two-dimensional structurized gridding map (SGM) was developed for cell lines & drugs, avoiding feature correlation neglect and potential information loss. Third, a dual-branch, multi-channel convolutional neural network-based model for pairwise response prediction was constructed, enabling accurate outcomes and improved exploration of underlying mechanisms. As a result, the DD-Response demonstrated superior performance, captured cell-line characteristic variations, and provided insights into key factors impacting cell-line drug response. In addition, DD-Response exhibited scalability in predicting clinical patient responses to drug therapy. Overall, because of DD-response's excellent ability to predict drug response and capture key molecules behind them, DD-response is expected to greatly facilitate drug discovery, repurposing, resistance reversal, and therapeutic optimization.
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25
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Ghadimi DJ, Vahdani AM, Karimi H, Ebrahimi P, Fathi M, Moodi F, Habibzadeh A, Khodadadi Shoushtari F, Valizadeh G, Mobarak Salari H, Saligheh Rad H. Deep Learning-Based Techniques in Glioma Brain Tumor Segmentation Using Multi-Parametric MRI: A Review on Clinical Applications and Future Outlooks. J Magn Reson Imaging 2025; 61:1094-1109. [PMID: 39074952 DOI: 10.1002/jmri.29543] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/15/2024] [Revised: 07/07/2024] [Accepted: 07/08/2024] [Indexed: 07/31/2024] Open
Abstract
This comprehensive review explores the role of deep learning (DL) in glioma segmentation using multiparametric magnetic resonance imaging (MRI) data. The study surveys advanced techniques such as multiparametric MRI for capturing the complex nature of gliomas. It delves into the integration of DL with MRI, focusing on convolutional neural networks (CNNs) and their remarkable capabilities in tumor segmentation. Clinical applications of DL-based segmentation are highlighted, including treatment planning, monitoring treatment response, and distinguishing between tumor progression and pseudo-progression. Furthermore, the review examines the evolution of DL-based segmentation studies, from early CNN models to recent advancements such as attention mechanisms and transformer models. Challenges in data quality, gradient vanishing, and model interpretability are discussed. The review concludes with insights into future research directions, emphasizing the importance of addressing tumor heterogeneity, integrating genomic data, and ensuring responsible deployment of DL-driven healthcare technologies. EVIDENCE LEVEL: N/A TECHNICAL EFFICACY: Stage 2.
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Affiliation(s)
- Delaram J Ghadimi
- School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Amir M Vahdani
- Image Guided Surgery Lab, Research Center for Biomedical Technologies and Robotics, Advanced Medical Technologies and Equipment Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
| | - Hanie Karimi
- School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
| | - Pouya Ebrahimi
- Tehran Heart Center, Cardiovascular Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| | - Mobina Fathi
- School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Farzan Moodi
- School of Medicine, Iran University of Medical Sciences, Tehran, Iran
- Quantitative MR Imaging and Spectroscopy Group (QMISG), Tehran University of Medical Sciences, Tehran, Iran
| | - Adrina Habibzadeh
- Student Research Committee, Fasa University of Medical Sciences, Fasa, Iran
| | | | - Gelareh Valizadeh
- Quantitative MR Imaging and Spectroscopy Group (QMISG), Tehran University of Medical Sciences, Tehran, Iran
| | - Hanieh Mobarak Salari
- Quantitative MR Imaging and Spectroscopy Group (QMISG), Tehran University of Medical Sciences, Tehran, Iran
| | - Hamidreza Saligheh Rad
- Quantitative MR Imaging and Spectroscopy Group (QMISG), Tehran University of Medical Sciences, Tehran, Iran
- Department of Medical Physics and Biomedical Engineering, Tehran University of Medical Sciences, Tehran, Iran
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26
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Harihar B, Saravanan KM, Gromiha MM, Selvaraj S. Importance of Inter-residue Contacts for Understanding Protein Folding and Unfolding Rates, Remote Homology, and Drug Design. Mol Biotechnol 2025; 67:862-884. [PMID: 38498284 DOI: 10.1007/s12033-024-01119-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2023] [Accepted: 02/10/2024] [Indexed: 03/20/2024]
Abstract
Inter-residue interactions in protein structures provide valuable insights into protein folding and stability. Understanding these interactions can be helpful in many crucial applications, including rational design of therapeutic small molecules and biologics, locating functional protein sites, and predicting protein-protein and protein-ligand interactions. The process of developing machine learning models incorporating inter-residue interactions has been improved recently. This review highlights the theoretical models incorporating inter-residue interactions in predicting folding and unfolding rates of proteins. Utilizing contact maps to depict inter-residue interactions aids researchers in developing computer models for detecting remote homologs and interface residues within protein-protein complexes which, in turn, enhances our knowledge of the relationship between sequence and structure of proteins. Further, the application of contact maps derived from inter-residue interactions is highlighted in the field of drug discovery. Overall, this review presents an extensive assessment of the significant models that use inter-residue interactions to investigate folding rates, unfolding rates, remote homology, and drug development, providing potential future advancements in constructing efficient computational models in structural biology.
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Affiliation(s)
- Balasubramanian Harihar
- Department of Bioinformatics, School of Life Sciences, Bharathidasan University, Tiruchirappalli, Tamil Nadu, 620024, India
- Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai, Tamil Nadu, 600036, India
| | - Konda Mani Saravanan
- Department of Bioinformatics, School of Life Sciences, Bharathidasan University, Tiruchirappalli, Tamil Nadu, 620024, India
- Department of Biotechnology, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, 600073, India
| | - Michael M Gromiha
- Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai, Tamil Nadu, 600036, India
| | - Samuel Selvaraj
- Department of Bioinformatics, School of Life Sciences, Bharathidasan University, Tiruchirappalli, Tamil Nadu, 620024, India.
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Li X, Yan S, Wu Y, Dai C, Guo Y. A Novel State Space Model with Dynamic Graphic Neural Network for EEG Event Detection. Int J Neural Syst 2025; 35:2550008. [PMID: 39962836 DOI: 10.1142/s012906572550008x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/09/2025]
Abstract
Electroencephalography (EEG) is a widely used physiological signal to obtain information of brain activity, and its automatic detection holds significant research importance, which saves doctors' time, improves detection efficiency and accuracy. However, current automatic detection studies face several challenges: large EEG data volumes require substantial time and space for data reading and model training; EEG's long-term dependencies test the temporal feature extraction capabilities of models; and the dynamic changes in brain activity and the non-Euclidean spatial structure between electrodes complicate the acquisition of spatial information. The proposed method uses range-EEG (rEEG) to extract time-frequency features from EEG to reduce data volume and resource consumption. Additionally, the next-generation state-space model Mamba is utilized as a temporal feature extractor to effectively capture the temporal information in EEG data. To address the limitations of state space models (SSMs) in spatial feature extraction, Mamba is combined with Dynamic Graph Neural Networks, creating an efficient model called DG-Mamba for EEG event detection. Testing on seizure detection and sleep stage classification tasks showed that the proposed method improved training speed by 10 times and reduced memory usage to less than one-seventh of the original data while maintaining superior performance. On the TUSZ dataset, DG-Mamba achieved an AUROC of 0.931 for seizure detection and in the sleep stage classification task, the proposed model surpassed all baselines.
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Affiliation(s)
- Xinying Li
- School of Information Science and Technology, Fudan University, Shanghai 200433, P. R. China
| | - Shengjie Yan
- School of Information Science and Technology, Fudan University, Shanghai 200433, P. R. China
| | - Yonglin Wu
- School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200241, P. R. China
| | - Chenyun Dai
- School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200241, P. R. China
| | - Yao Guo
- School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200241, P. R. China
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28
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Alshammry N. Developing a method for predicting DNA nucleosomal sequences using deep learning. Technol Health Care 2025; 33:989-999. [PMID: 40105177 DOI: 10.1177/09287329241297900] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/20/2025]
Abstract
BackgroundDeep learning excels at processing raw data because it automatically extracts and classifies high-level features. Despite biology's low popularity in data analysis, incorporating computer technology can improve biological research.ObjectiveTo create a deep learning model that can identify nucleosomes from nucleotide sequences and to show that simpler models outperform more complicated ones in solving biological challenges.MethodsA classifier was created utilising deep learning and machine learning approaches. The final model consists of two convolutional layers, one max pooling layer, two fully connected layers, and a dropout regularisation layer. This structure was chosen on the basis of the 'less is frequently more' approach, which emphasises simple design without large hidden layers.ResultsExperimental results show that deep learning methods, specifically deep neural networks, outperform typical machine learning algorithms for recognising nucleosomes. The simplified network architecture proved suitable without the requirement for numerous hidden neurons, resulting in effective network performance.ConclusionThis study demonstrates that machine learning and other computational techniques may streamline and expedite the resolution of biological issues. The model helps identify nucleosomes and can be used in future research or labs. This study discusses the challenges of understanding and addressing simple biological problems with sophisticated computer technology and offers practical solutions for academic and economic sectors.
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Affiliation(s)
- Nizal Alshammry
- Department of Computer Sciences, Faculty of Computing and Information Technology, Northern Border University, Rafha, Saudi Arabia
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29
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Thümmel L, Tintner‐Olifiers J, Amendt J. A methodological approach to age estimation of the intra-puparial period of the forensically relevant blow fly Calliphora vicina via Fourier transform infrared spectroscopy. MEDICAL AND VETERINARY ENTOMOLOGY 2025; 39:22-32. [PMID: 39093723 PMCID: PMC11793135 DOI: 10.1111/mve.12748] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/08/2024] [Accepted: 07/19/2024] [Indexed: 08/04/2024]
Abstract
Estimating the age of immature blow flies is of great importance for forensic entomology. However, no gold-standard technique for an accurate determination of the intra-puparial age has yet been established. Fourier transform infrared (FTIR) spectroscopy is a method to (bio-)chemically characterise material based on the absorbance of electromagnetic energy by functional groups of molecules. In recent years, it also has become a powerful tool in forensic and life sciences, as it is a fast and cost-effective way to characterise all kinds of material and biological traces. This study is the first to collect developmental reference data on the changes in absorption spectra during the intra-puparial period of the forensically important blow fly Calliphora vicina Robineau-Desvoidy (Diptera: Calliphoridae). Calliphora vicina was reared at constant 20°C and 25°C and specimens were killed every other day throughout their intra-puparial development. In order to investigate which part yields the highest detectable differences in absorption spectra throughout the intra-puparial development, each specimen was divided into two different subsamples: the pupal body and the former cuticle of the third instar, that is, the puparium. Absorption spectra were collected with a FTIR spectrometer coupled to an attenuated total reflection (ATR) unit. Classification accuracies of different wavenumber regions with two machine learning models, i.e., random forests (RF) and support vector machines (SVMs), were tested. The best age predictions for both temperature settings and machine learning models were obtained by using the full spectral range from 3700 to 600 cm-1. While SVMs resulted in better accuracies for C. vicina reared at 20°C, RFs performed almost as good as SVMs for data obtained from 25°C. In terms of sample type, the pupal body gave smoother spectra and usually better classification accuracies than the puparia. This study shows that FTIR spectroscopy is a promising technique in forensic entomology to support the estimation of the minimum post-mortem interval (PMImin), by estimating the age of a given insect specimen.
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Affiliation(s)
- Luise Thümmel
- Goethe‐University Frankfurt, University Hospital, Institute of Legal MedicineFrankfurt am MainGermany
- Department of Aquatic Ecotoxicology, Faculty of Biological SciencesGoethe UniversityFrankfurt am MainGermany
| | | | - Jens Amendt
- Goethe‐University Frankfurt, University Hospital, Institute of Legal MedicineFrankfurt am MainGermany
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30
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Dong S, Cui Z, Liu D, Lei J. scRDiT: Generating Single-cell RNA-seq Data by Diffusion Transformers and Accelerating Sampling. Interdiscip Sci 2025:10.1007/s12539-025-00688-5. [PMID: 39982678 DOI: 10.1007/s12539-025-00688-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2024] [Revised: 01/07/2025] [Accepted: 01/08/2025] [Indexed: 02/22/2025]
Abstract
Single-cell RNA sequencing (scRNA-seq) is a groundbreaking technology extensively utilized in biological research, facilitating the examination of gene expression at the individual cell level within a given tissue sample. While numerous tools have been developed for scRNA-seq data analysis, the challenge persists in capturing the distinct features of such data and replicating virtual datasets that share analogous statistical properties. Our study introduces a generative approach termed scRNA-seq Diffusion Transformer (scRDiT). This method generates virtual scRNA-seq data by leveraging a real dataset. The method is a neural network constructed based on Denoising Diffusion Probabilistic Models (DDPMs) and Diffusion Transformers (DiTs). This involves subjecting Gaussian noises to the real dataset through iterative noise-adding steps and ultimately restoring the noises to form scRNA-seq samples. This scheme allows us to learn data features from actual scRNA-seq samples during model training. Our experiments, conducted on two distinct scRNA-seq datasets, demonstrate superior performance. Additionally, the model sampling process is expedited by incorporating Denoising Diffusion Implicit Models (DDIMs). scRDiT presents a unified methodology empowering users to train neural network models with their unique scRNA-seq datasets, enabling the generation of numerous high-quality scRNA-seq samples.
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Affiliation(s)
- Shengze Dong
- School of Computer Science and Technology, Tiangong University, Tianjin, 300387, China
| | - Zhuorui Cui
- School of Computer Science and Technology, Tiangong University, Tianjin, 300387, China
| | - Ding Liu
- School of Computer Science and Technology, Tiangong University, Tianjin, 300387, China.
| | - Jinzhi Lei
- School of Mathematical Sciences, Tiangong University, Tianjin, 300387, China.
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31
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Lin F, Wang K, Lai M, Wu Y, Chen C, Wang Y, Wang R. Multicenter study on predicting postoperative upper limb muscle strength improvement in cervical spinal cord injury patients using radiomics and deep learning. Sci Rep 2025; 15:5805. [PMID: 39962172 PMCID: PMC11833087 DOI: 10.1038/s41598-024-72539-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/25/2024] [Accepted: 09/09/2024] [Indexed: 02/20/2025] Open
Abstract
Cervical spinal cord injury is often catastrophic, frequently leading to irreversible impairment. MRI has become the gold standard for evaluating spinal cord injuries (SCI). Our study aimed to assess the accuracy of a radiomics approach, based on machine learning and utilizing conventional MRI, in predicting the prognosis of patients with SCI. In a retrospective analysis of 82 SCI patients from three hospitals, we categorized them into good (n = 49) and poor (n = 33) prognosis groups. Preoperative T2-weighted MRI images were segmented using 3D-Region of Interest (ROI) techniques, and both radiomic and deep transfer learning features were extracted. These features were normalized using Z-score and harmonized via ComBat. Feature selection was performed using a greedy algorithm and Least absolute shrinkage and selection operator (LASSO), and others, followed by the calculation of radiomics scores through linear regression. Machine learning was then used to identify the most predictive radiomic features. Model performance was evaluated by analyzing the area under the curve (AUC) and other indicators.Univariate analysis indicated that the demographic characteristics of cervical spinal cord injury were not statistically significant. In the test dataset, the random forest (RF) combined with radiomics and ResNet34 demonstrated better performance, with an accuracy of 0.800 and an AUC of 0.893.Using MRI, deep learning-based radiomics signals show promise in evaluating and predicting the postoperative prognosis of these patients.
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Affiliation(s)
- Fabin Lin
- Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China
- Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Kaifeng Wang
- Fujian Medical University, Fuzhou, 350001, Fujian, China
- Fujian Medical University 2nd Clinical Medical College, Quanzhou, China
| | - Minyun Lai
- Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Yang Wu
- The First People's Hospital of ChangDe City, ChangDe, 410200, Hunan, China
| | - Chunmei Chen
- Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China
| | - Yongjiang Wang
- Ordos Central Hosptial, Ordos, 017000, Inner Mongolia, China.
| | - Rui Wang
- Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
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Nilsson A, Meimetis N, Lauffenburger DA. Towards an interpretable deep learning model of cancer. NPJ Precis Oncol 2025; 9:46. [PMID: 39948231 PMCID: PMC11825879 DOI: 10.1038/s41698-025-00822-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2024] [Accepted: 01/27/2025] [Indexed: 02/16/2025] Open
Abstract
Cancer is a manifestation of dysfunctional cell states. It emerges from an interplay of intrinsic and extrinsic factors that disrupt cellular dynamics, including genetic and epigenetic alterations, as well as the tumor microenvironment. This complexity can make it challenging to infer molecular causes for treating the disease. This may be addressed by system-wide computer models of cells, as they allow rapid generation and testing of hypotheses that would be too slow or impossible to perform in the laboratory and clinic. However, so far, such models have been impeded by both experimental and computational limitations. In this perspective, we argue that they can now be achieved using deep learning algorithms to integrate omics data and prior knowledge of molecular networks. Such models would have many applications in precision oncology, e.g., for identifying drug targets and biomarkers, predicting resistance mechanisms and toxicity effects of drugs, or simulating cell-cell interactions in the microenvironment.
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Affiliation(s)
- Avlant Nilsson
- Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA
- Department of Biology and Biological Engineering, Chalmers University of Technology, Göteborg, Sweden
- Department of Cell and Molecular Biology, SciLifeLab, Karolinska Institutet, Stockholm, Sweden
| | - Nikolaos Meimetis
- Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA
| | - Douglas A Lauffenburger
- Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.
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Volovăț SR, Boboc DI, Ostafe MR, Buzea CG, Agop M, Ochiuz L, Rusu DI, Vasincu D, Ungureanu MI, Volovăț CC. Utilizing Vision Transformers for Predicting Early Response of Brain Metastasis to Magnetic Resonance Imaging-Guided Stage Gamma Knife Radiosurgery Treatment. Tomography 2025; 11:15. [PMID: 39997998 PMCID: PMC11860310 DOI: 10.3390/tomography11020015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/21/2024] [Revised: 01/11/2025] [Accepted: 02/01/2025] [Indexed: 02/26/2025] Open
Abstract
BACKGROUND/OBJECTIVES This study explores the application of vision transformers to predict early responses to stereotactic radiosurgery in patients with brain metastases using minimally pre-processed magnetic resonance imaging scans. The objective is to assess the potential of vision transformers as a predictive tool for clinical decision-making, particularly in the context of imbalanced datasets. METHODS We analyzed magnetic resonance imaging scans from 19 brain metastases patients, focusing on axial fluid-attenuated inversion recovery and high-resolution contrast-enhanced T1-weighted sequences. Patients were categorized into responders (complete or partial response) and non-responders (stable or progressive disease). RESULTS Despite the imbalanced nature of the dataset, our results demonstrate that vision transformers can predict early treatment responses with an overall accuracy of 99%. The model exhibited high precision (99% for progression and 100% for regression) and recall (99% for progression and 100% for regression). The use of the attention mechanism in the vision transformers allowed the model to focus on relevant features in the magnetic resonance imaging images, ensuring an unbiased performance even with the imbalanced data. Confusion matrix analysis further confirmed the model's reliability, with minimal misclassifications. Additionally, the model achieved a perfect area under the receiver operator characteristic curve (AUC = 1.00), effectively distinguishing between responders and non-responders. CONCLUSIONS These findings highlight the potential of vision transformers, aided by the attention mechanism, as a non-invasive, predictive tool for early response assessment in clinical oncology. The vision transformer (ViT) model employed in this study processes MRIs as sequences of patches, enabling the capture of localized tumor features critical for early response prediction. By leveraging patch-based feature learning, this approach enhances robustness, interpretability, and clinical applicability, addressing key challenges in tumor progression prediction following stereotactic radiosurgery (SRS). The model's robust performance, despite the dataset imbalance, underscores its ability to provide unbiased predictions. This approach could significantly enhance clinical decision-making and support personalized treatment strategies for brain metastases. Future research should validate these findings in larger, more diverse cohorts and explore the integration of additional data types to further optimize the model's clinical utility.
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Affiliation(s)
- Simona Ruxandra Volovăț
- Medical Oncology-Radiotherapy Department, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania; (S.R.V.); (D.-I.B.); (M.-R.O.)
| | - Diana-Ioana Boboc
- Medical Oncology-Radiotherapy Department, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania; (S.R.V.); (D.-I.B.); (M.-R.O.)
| | - Mădălina-Raluca Ostafe
- Medical Oncology-Radiotherapy Department, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania; (S.R.V.); (D.-I.B.); (M.-R.O.)
| | - Călin Gheorghe Buzea
- “Prof. Dr. Nicolae Oblu” Clinical Emergency Hospital Iași, 700309 Iași, Romania;
- National Institute of Research and Development for Technical Physics, IFT Iași, 700050 Iași, Romania
| | - Maricel Agop
- Physics Department, “Gheorghe Asachi” Technical University Iași, 700050 Iași, Romania;
| | - Lăcrămioara Ochiuz
- Faculty of Pharmacy, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania;
| | - Dragoș Ioan Rusu
- Faculty of Science, “V. Alecsandri” University of Bacău, 600115 Bacău, Romania;
| | - Decebal Vasincu
- Surgery Department, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania;
| | - Monica Iuliana Ungureanu
- Preventive Medicine and Interdisciplinarity Department, “Grigore T. Popa” University of Medicine and Pharmacy Iași, 700115 Iași, Romania
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Chen YM, Hsiao TH, Lin CH, Fann YC. Unlocking precision medicine: clinical applications of integrating health records, genetics, and immunology through artificial intelligence. J Biomed Sci 2025; 32:16. [PMID: 39915780 PMCID: PMC11804102 DOI: 10.1186/s12929-024-01110-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2024] [Accepted: 12/02/2024] [Indexed: 02/09/2025] Open
Abstract
Artificial intelligence (AI) has emerged as a transformative force in precision medicine, revolutionizing the integration and analysis of health records, genetics, and immunology data. This comprehensive review explores the clinical applications of AI-driven analytics in unlocking personalized insights for patients with autoimmune rheumatic diseases. Through the synergistic approach of integrating AI across diverse data sets, clinicians gain a holistic view of patient health and potential risks. Machine learning models excel at identifying high-risk patients, predicting disease activity, and optimizing therapeutic strategies based on clinical, genomic, and immunological profiles. Deep learning techniques have significantly advanced variant calling, pathogenicity prediction, splicing analysis, and MHC-peptide binding predictions in genetics. AI-enabled immunology data analysis, including dimensionality reduction, cell population identification, and sample classification, provides unprecedented insights into complex immune responses. The review highlights real-world examples of AI-driven precision medicine platforms and clinical decision support tools in rheumatology. Evaluation of outcomes demonstrates the clinical benefits and impact of these approaches in revolutionizing patient care. However, challenges such as data quality, privacy, and clinician trust must be navigated for successful implementation. The future of precision medicine lies in the continued research, development, and clinical integration of AI-driven strategies to unlock personalized patient care and drive innovation in rheumatology.
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Affiliation(s)
- Yi-Ming Chen
- Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, 40705, Taiwan
- School of Medicine, National Yang Ming Chiao Tung University, Taipei, 11221, Taiwan
- Department of Medical Research, Taichung Veterans General Hospital, Taichung, 40705, Taiwan
- Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taipei, 112304, Taiwan
- Graduate Institute of Clinical Medicine, College of Medicine, National Chung Hsing University, Taichung, 402202, Taiwan
- Precision Medicine Research Center, College of Medicine, National Chung Hsing University, Taichung, 402202, Taiwan
| | - Tzu-Hung Hsiao
- Department of Medical Research, Taichung Veterans General Hospital, Taichung, 40705, Taiwan
- Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, 242062, Taiwan
- Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, 402202, Taiwan
| | - Ching-Heng Lin
- Department of Medical Research, Taichung Veterans General Hospital, Taichung, 40705, Taiwan.
- Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, 242062, Taiwan.
- Department of Industrial Engineering and Enterprise Information, Tunghai University, Taichung, 407224, Taiwan.
- Institute of Public Health and Community Medicine Research Center, National Yang Ming Chiao Tung University, Taipei, 11221, Taiwan.
| | - Yang C Fann
- Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.
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Tian Y, Liu J, Wu S, Zheng Y, Han R, Bao Q, Li L, Yang T. Development and validation of a deep learning-enhanced prediction model for the likelihood of pulmonary embolism. Front Med (Lausanne) 2025; 12:1506363. [PMID: 39981086 PMCID: PMC11839595 DOI: 10.3389/fmed.2025.1506363] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2024] [Accepted: 01/24/2025] [Indexed: 02/22/2025] Open
Abstract
Background Pulmonary embolism (PE) is a common and potentially fatal condition. Timely and accurate risk assessment in patients with acute deep vein thrombosis (DVT) is crucial. This study aims to develop a deep learning-based, precise, and efficient PE risk prediction model (PE-Mind) to overcome the limitations of current clinical tools and provide a more targeted risk evaluation solution. Methods We analyzed clinical data from patients by first simplifying and organizing the collected features. From these, 37 key clinical features were selected based on their importance. These features were categorized and analyzed to identify potential relationships. Our prediction model uses a convolutional neural network (CNN), enhanced with three custom-designed modules for better performance. To validate its effectiveness, we compared this model with five commonly used prediction models. Results PE-Mind demonstrated the highest accuracy and reliability, achieving 0.7826 accuracy and an area under the receiver operating characteristic curve of 0.8641 on the prospective test set, surpassing other models. Based on this, we have also developed a Web server, PulmoRiskAI, for real-time clinician operation. Conclusion The PE-Mind model improves prediction accuracy and reliability for assessing PE risk in acute DVT patients. Its convolutional architecture and residual modules substantially enhance predictive performance.
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Affiliation(s)
- Yu Tian
- Vascular Surgery Department, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Tongji Shanxi Hospital, Taiyuan, China
- School of Clinical Medicine, Tsinghua University, Beijing, China
| | - Jingjie Liu
- Institute of Cardiovascular Diseases, The First Affiliated Hospital of Dalian Medical University, Dalian, China
| | - Shan Wu
- Radiology Department, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Tongji Shanxi Hospital, Taiyuan, China
| | - Yucong Zheng
- Radiology Department, Tsinghua University Hospital, Tsinghua University, Beijing, China
| | - Rongye Han
- Clinical Laboratory Department, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Tongji Shanxi Hospital, Taiyuan, China
| | - Qianhui Bao
- School of Clinical Medicine, Tsinghua University, Beijing, China
| | - Lei Li
- School of Clinical Medicine, Tsinghua University, Beijing, China
- Vascular Department, Beijing Hua Xin Hospital (1st Hospital of Tsinghua University), Beijing, China
| | - Tao Yang
- Vascular Surgery Department, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Tongji Shanxi Hospital, Taiyuan, China
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Shahid A, Zahra A, Aslam S, Shamim A, Ali WR, Aslam B, Khan SH, Arshad MI. Appraisal of CRISPR Technology as an Innovative Screening to Therapeutic Toolkit for Genetic Disorders. Mol Biotechnol 2025:10.1007/s12033-025-01374-z. [PMID: 39894889 DOI: 10.1007/s12033-025-01374-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2024] [Accepted: 01/02/2025] [Indexed: 02/04/2025]
Abstract
The high frequency of genetic diseases compels the development of refined diagnostic and therapeutic systems. CRISPR is a precise genome editing tool that offers detection of genetic mutation with high sensitivity, specificity and flexibility for point-of-care testing in low resource environment. Advancements in CRISPR ushered new hope for the detection of genetic diseases. This review aims to explore the recent advances in CRISPR for the detection and treatment of genetic disorders. It delves into the advances like next-generation CRISPR diagnostics like nano-biosensors, digitalized CRISPR, and omics-integrated CRISPR technologies to enhance the detection limits and to facilitate the "lab-on-chip" technologies. Additionally, therapeutic potential of CRISPR technologies is reviewed to evaluate the implementation potential of CRISPR technologies for the treatment of hematological diseases, (sickle cell anemia and β-thalassemia), HIV, cancer, cardiovascular diseases, and neurological disorders, etc. Emerging CRISPR therapeutic approaches such as base/epigenetic editing and stem cells for the development of foreseen CRIPSR drugs are explored for the development of point-of-care testing. A combination of predictive models of artificial intelligence and machine learning with growing knowledge of genetic disorders has also been discussed to understand their role in acceleration of genetic detection. Ethical consideration are briefly discussed towards to end of review. This review provides the comprehensive insights into advances in the CRISPR diagnostics/therapeutics which are believed to pave the way for reliable, effective, and low-cost genetic testing.
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Affiliation(s)
- Ayesha Shahid
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan
| | - Ambreen Zahra
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan
- Center for Agricultural Biochemistry and Biotechnology, University of Agriculture, Faisalabad, 38000, Pakistan
| | - Sabin Aslam
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan
| | - Amen Shamim
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan
- Department of Computer Science, University of Agriculture, Faisalabad, 38000, Pakistan
| | | | - Bilal Aslam
- Institute of Microbiology, Government College University Faisalabad, Faisalabad, 38000, Pakistan
| | - Sultan Habibullah Khan
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan
- Center for Agricultural Biochemistry and Biotechnology, University of Agriculture, Faisalabad, 38000, Pakistan
| | - Muhammad Imran Arshad
- National Center for Genome Editing, Center for Advanced Studies/D-8 Research Center, University of Agriculture, Faisalabad, 38000, Pakistan.
- Institute of Microbiology, University of Agriculture Faisalabad, Pakistan Academy of Sciences (PAS), Faisalabad, 38000, Pakistan.
- Jiangsu University, Jiangsu, 212013, People's Republic of China.
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Choudhury P, Boruah BR. Neural network-assisted localization of clustered point spread functions in single-molecule localization microscopy. J Microsc 2025; 297:153-164. [PMID: 39367610 DOI: 10.1111/jmi.13362] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2024] [Revised: 08/16/2024] [Accepted: 09/19/2024] [Indexed: 10/06/2024]
Abstract
Single-molecule localization microscopy (SMLM), which has revolutionized nanoscale imaging, faces challenges in densely labelled samples due to fluorophore clustering, leading to compromised localization accuracy. In this paper, we propose a novel convolutional neural network (CNN)-assisted approach to address the issue of locating the clustered fluorophores. Our CNN is trained on a diverse data set of simulated SMLM images where it learns to predict point spread function (PSF) locations by generating Gaussian blobs as output. Through rigorous evaluation, we demonstrate significant improvements in PSF localization accuracy, especially in densely labelled samples where traditional methods struggle. In addition, we employ blob detection as a post-processing technique to refine the predicted PSF locations and enhance localization precision. Our study underscores the efficacy of CNN in addressing clustering challenges in SMLM, thereby advancing spatial resolution and enabling deeper insights into complex biological structures.
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Affiliation(s)
- Pranjal Choudhury
- Department of Physics, Indian Institute of Technology Guwahati, Guwahati, Assam, India
| | - Bosanta R Boruah
- Department of Physics, Indian Institute of Technology Guwahati, Guwahati, Assam, India
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Lin M, Wang S, Ding Y, Zhao L, Wang F, Peng Y. An empirical study of using radiology reports and images to improve intensive care unit mortality prediction. JAMIA Open 2025; 8:ooae137. [PMID: 39980476 PMCID: PMC11841685 DOI: 10.1093/jamiaopen/ooae137] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2024] [Revised: 10/05/2024] [Indexed: 02/22/2025] Open
Abstract
Objectives The predictive intensive care unit (ICU) scoring system is crucial for predicting patient outcomes, particularly mortality. Traditional scoring systems rely mainly on structured clinical data from electronic health records, which can overlook important clinical information in narratives and images. Materials and Methods In this work, we build a deep learning-based survival prediction model that utilizes multimodality data for ICU mortality prediction. Four sets of features are investigated: (1) physiological measurements of Simplified Acute Physiology Score (SAPS) II, (2) common thorax diseases predefined by radiologists, (3) bidirectional encoder representations from transformers-based text representations, and (4) chest X-ray image features. The model was evaluated using the Medical Information Mart for Intensive Care IV dataset. Results Our model achieves an average C-index of 0.7829 (95% CI, 0.7620-0.8038), surpassing the baseline using only SAPS-II features, which had a C-index of 0.7470 (95% CI: 0.7263-0.7676). Ablation studies further demonstrate the contributions of incorporating predefined labels (2.00% improvement), text features (2.44% improvement), and image features (2.82% improvement). Discussion and Conclusion The deep learning model demonstrated superior performance to traditional machine learning methods under the same feature fusion setting for ICU mortality prediction. This study highlights the potential of integrating multimodal data into deep learning models to enhance the accuracy of ICU mortality prediction.
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Affiliation(s)
- Mingquan Lin
- Department of Population Health Sciences, Weill Cornell Medicine, New York, NY 10022, United States
- Department of Surgery, University of Minnesota, Minneapolis, MN 55455, United States
| | - Song Wang
- Cockrell School of Engineering, The University of Texas at Austin, Austin, TX 78712, United States
| | - Ying Ding
- School of Information, The University of Texas at Austin, Austin, TX 78712, United States
| | - Lihui Zhao
- Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Fei Wang
- Department of Population Health Sciences, Weill Cornell Medicine, New York, NY 10022, United States
| | - Yifan Peng
- Department of Population Health Sciences, Weill Cornell Medicine, New York, NY 10022, United States
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Matsuoka M, Onodera T, Fukuda R, Iwasaki K, Hamasaki M, Ebata T, Hosokawa Y, Kondo E, Iwasaki N. Evaluating the Alignment of Artificial Intelligence-Generated Recommendations With Clinical Guidelines Focused on Soft Tissue Tumors. J Surg Oncol 2025; 131:285-290. [PMID: 39233558 DOI: 10.1002/jso.27874] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2024] [Accepted: 08/24/2024] [Indexed: 09/06/2024]
Abstract
BACKGROUND The integration of artificial intelligence (AI), particularly, in oncology, has significantly shifted the paradigms of medical diagnostics and treatment planning. However, the utility of AI, specifically OpenAI's ChatGPT, in soft tissue sarcoma treatment, remains unclear. METHODS We evaluated ChatGPT's alignment with the Japanese Orthopaedic Association (JOA) clinical practice guidelines on the management of soft tissue tumors 2020. Twenty-two clinical questions (CQs) were formulated to encompass various aspects of sarcoma diagnosis, treatment, and management. ChatGPT's responses were classified into "Complete Alignment," "Partial Alignment," or "Nonalignment" based on the recommendation and strength of evidence. RESULTS ChatGPT demonstrated an 86% alignment rate with the JOA guidelines. The AI provided two instances of complete alignment and 17 instances of partial alignment, indicating a strong capability to match guideline criteria for most questions. However, three discrepancies were identified in areas concerning the treatment of atypical lipomatous tumors, perioperative chemotherapy for synovial sarcoma, and treatment strategies for elderly patients with malignant soft tissue tumors. Reassessment with guideline input led to some adjustments, revealing both the potential and limitations of AI in complex sarcoma care. CONCLUSION Our study demonstrates that AI, specifically ChatGPT, can align with clinical guidelines for soft tissue sarcoma treatment. It also underscores the need for continuous refinement and cautious integration of AI in medical decision-making, particularly in the context of treatment for soft tissue sarcoma.
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Affiliation(s)
- Masatake Matsuoka
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Tomohiro Onodera
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Ryuichi Fukuda
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Koji Iwasaki
- Department of Functional Reconstruction for the Knee Joint, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Masanari Hamasaki
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Taku Ebata
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Yoshiaki Hosokawa
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
| | - Eiji Kondo
- Centre for Sports Medicine, Hokkaido University Hospital, Sapporo, Hokkaido, Japan
| | - Norimasa Iwasaki
- Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
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Li T, Cao B, Su T, Lin L, Wang D, Liu X, Wan H, Ji H, He Z, Chen Y, Feng L, Zhang TY. Machine Learning-Engineered Nanozyme System for Synergistic Anti-Tumor Ferroptosis/Apoptosis Therapy. SMALL (WEINHEIM AN DER BERGSTRASSE, GERMANY) 2025; 21:e2408750. [PMID: 39679771 DOI: 10.1002/smll.202408750] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/24/2024] [Revised: 12/06/2024] [Indexed: 12/17/2024]
Abstract
Nanozymes with multienzyme-like activity have sparked significant interest in anti-tumor therapy via responding to the tumor microenvironment (TME). However, the consequent induction of protective autophagy substantially compromises the therapeutic efficacy. Here, a targeted nanozyme system (Fe-Arg-CDs@ZIF-8/HAD, FZH) is shown, which enhances synergistic anti-tumor ferroptosis/apoptosis therapy by leveraging machine learning (ML). A novel ML model, termed the sequential backward Tree-Classifier for Gaussian Process Regression (TCGPR), is proposed to improve data pattern recognition following the divide-and-conquer principle. Based on this, a Bayesian optimization algorithm is employed to select candidates from the extensive search space. Leveraging this fresh material discovery framework, a novel strategy for enhancing nanozyme-based tumor therapy, has been developed. The results reveal that FZH effectively exerts anti-tumor effects by sequentially responding to the TME, having a cascade reaction to induce ferroptosis. Moreover, the endogenous elevation of high concentration nitric oxide (NO) serves as a direct mechanism for killing tumor cells while concurrently suppressing the protective autophagy induced by oxidative stress (OS), enhancing synergistic ferroptosis/apoptosis therapy. Overall, a novel strategy for improving nanozyme-based tumor therapy has been proposed, underlying the integration of ML, experiments, and biological applications.
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Affiliation(s)
- Tianliang Li
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Bin Cao
- Guangzhou Municipal Key Laboratory of Materials Informatics, Sustainable Energy and Environment Thrust, Advanced Materials Thrust, Hong Kong University of Science and Technology (Guangzhou), Guangzhou, Guangdong, 511400, China
| | - Tianhao Su
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Lixing Lin
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Dong Wang
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Xinting Liu
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Haoyu Wan
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Haiwei Ji
- School of Public Health, Nantong Key Laboratory of Public Health and Medical Analysis, Nantong University, Nantong, 226019, China
| | - Zixuan He
- National Clinical Research Center for Digestive Diseases, Department of Gastroenterology, Changhai Hospital, Naval Medical University, Shanghai, 200433, China
| | - Yingying Chen
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
| | - Lingyan Feng
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
- Joint International Research Laboratory of Biomaterials and Biotechnology in Organ Repair, Ministry of Education, Shanghai, 200444, China
| | - Tong-Yi Zhang
- Materials Genome Institute, Shanghai Engineering Research Center for Integrated Circuits and Advanced Display Materials, and Shanghai Engineering Research Center of Organ Repair, Shanghai University, Shanghai, 200444, China
- Guangzhou Municipal Key Laboratory of Materials Informatics, Sustainable Energy and Environment Thrust, Advanced Materials Thrust, Hong Kong University of Science and Technology (Guangzhou), Guangzhou, Guangdong, 511400, China
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Pennisi F, Pinto A, Ricciardi GE, Signorelli C, Gianfredi V. The Role of Artificial Intelligence and Machine Learning Models in Antimicrobial Stewardship in Public Health: A Narrative Review. Antibiotics (Basel) 2025; 14:134. [PMID: 40001378 PMCID: PMC11851606 DOI: 10.3390/antibiotics14020134] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/27/2024] [Revised: 01/17/2025] [Accepted: 01/21/2025] [Indexed: 02/27/2025] Open
Abstract
Antimicrobial resistance (AMR) poses a critical global health threat, necessitating innovative approaches in antimicrobial stewardship (AMS). Artificial intelligence (AI) and machine learning (ML) have emerged as transformative tools in this domain, enabling data-driven interventions to optimize antibiotic use and combat resistance. This comprehensive review explores the multifaceted role of AI and ML models in enhancing antimicrobial stewardship efforts across healthcare systems. AI-powered predictive analytics can identify patterns of resistance, forecast outbreaks, and guide personalized antibiotic therapies by leveraging large-scale clinical and epidemiological data. ML algorithms facilitate rapid pathogen identification, resistance profiling, and real-time monitoring, enabling precise decision making. These technologies also support the development of advanced diagnostic tools, reducing the reliance on broad-spectrum antibiotics and fostering timely, targeted treatments. In public health, AI-driven surveillance systems improve the detection of AMR trends and enhance global monitoring capabilities. By integrating diverse data sources-such as electronic health records, laboratory results, and environmental data-ML models provide actionable insights to policymakers, healthcare providers, and public health officials. Additionally, AI applications in antimicrobial stewardship programs (ASPs) promote adherence to prescribing guidelines, evaluate intervention outcomes, and optimize resource allocation. Despite these advancements, challenges such as data quality, algorithm transparency, and ethical considerations must be addressed to maximize the potential of AI and ML in this field. Future research should focus on developing interpretable models and fostering interdisciplinary collaborations to ensure the equitable and sustainable integration of AI into antimicrobial stewardship initiatives.
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Affiliation(s)
- Flavia Pennisi
- Faculty of Medicine, University Vita-Salute San Raffaele, 20132 Milan, Italy; (F.P.); (A.P.); (G.E.R.); (C.S.)
- PhD National Program in One Health Approaches to Infectious Diseases and Life Science Research, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy
| | - Antonio Pinto
- Faculty of Medicine, University Vita-Salute San Raffaele, 20132 Milan, Italy; (F.P.); (A.P.); (G.E.R.); (C.S.)
| | - Giovanni Emanuele Ricciardi
- Faculty of Medicine, University Vita-Salute San Raffaele, 20132 Milan, Italy; (F.P.); (A.P.); (G.E.R.); (C.S.)
- PhD National Program in One Health Approaches to Infectious Diseases and Life Science Research, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy
| | - Carlo Signorelli
- Faculty of Medicine, University Vita-Salute San Raffaele, 20132 Milan, Italy; (F.P.); (A.P.); (G.E.R.); (C.S.)
| | - Vincenza Gianfredi
- Department of Biomedical Sciences for Health, University of Milan, Via Pascal 36, 20133 Milan, Italy
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Yin Y, Workman E, Ma P, Cheng Y, Shao Y, Goulet JL, Sandbrink F, Brandt C, Spevak C, Kean JT, Becker W, Libin A, Shara N, Sheriff HM, Butler J, Agrawal RM, Kupersmith J, Zeng-Trietler Q. A deep learning analysis for dual healthcare system users and risk of opioid use disorder. Sci Rep 2025; 15:3648. [PMID: 39881142 PMCID: PMC11779826 DOI: 10.1038/s41598-024-77602-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2024] [Accepted: 10/23/2024] [Indexed: 01/31/2025] Open
Abstract
The opioid crisis has disproportionately affected U.S. veterans, leading the Veterans Health Administration to implement opioid prescribing guidelines. Veterans who receive care from both VA and non-VA providers-known as dual-system users-have an increased risk of Opioid Use Disorder (OUD). The interaction between dual-system use and demographic and clinical factors, however, has not been previously explored. We conducted a retrospective study of 856,299 patient instances from the Washington DC and Baltimore VA Medical Centers (2012-2019), using a deep neural network (DNN) and explainable Artificial Intelligence to examine the impact of dual-system use on OUD and how demographic and clinical factors interact with it. Of the cohort, 146,688(17%) had OUD, determined through Natural Language Processing of clinical notes and ICD-9/10 diagnoses. The DNN model, with a 78% area under the curve, confirmed that dual-system use is a risk factor for OUD, along with prior opioid use or other substance use. Interestingly, a history of other drug use interacted negatively with dual-system use regarding OUD risk. In contrast, older age was associated with a lower risk of OUD but interacted positively with dual-system use. These findings suggest that within the dual-system users, patients with certain risk profiles warrant special attention.
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Affiliation(s)
- Ying Yin
- Washington DC VA Medical Center, Washington, DC, USA
- Biomedical Informatics Center, George Washington University, Washington, DC, USA
| | - Elizabeth Workman
- Washington DC VA Medical Center, Washington, DC, USA
- Biomedical Informatics Center, George Washington University, Washington, DC, USA
| | - Phillip Ma
- Washington DC VA Medical Center, Washington, DC, USA
- Biomedical Informatics Center, George Washington University, Washington, DC, USA
| | - Yan Cheng
- Washington DC VA Medical Center, Washington, DC, USA
- Biomedical Informatics Center, George Washington University, Washington, DC, USA
| | - Yijun Shao
- Washington DC VA Medical Center, Washington, DC, USA
- Biomedical Informatics Center, George Washington University, Washington, DC, USA
| | - Joseph L Goulet
- VA Connecticut Healthcare System, West Haven, CT, USA
- Yale School of Medicine, New Haven, CT, USA
| | | | - Cynthia Brandt
- VA Connecticut Healthcare System, West Haven, CT, USA
- Yale School of Medicine, New Haven, CT, USA
| | | | | | - William Becker
- VA Connecticut Healthcare System, West Haven, CT, USA
- Yale School of Medicine, New Haven, CT, USA
| | - Alexander Libin
- Georgetown University School of Medicine, Washington, DC, USA
- MedStar Health, Washington, DC, USA
| | - Nawar Shara
- Georgetown University School of Medicine, Washington, DC, USA
- MedStar Health, Washington, DC, USA
| | | | | | | | - Joel Kupersmith
- Georgetown University School of Medicine, Washington, DC, USA.
| | - Qing Zeng-Trietler
- Washington DC VA Medical Center, Washington, DC, USA.
- Biomedical Informatics Center, George Washington University, Washington, DC, USA.
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Heydarlou H, Hodson LJ, Dorraki M, Hickey TE, Tilley WD, Smith E, Ingman WV, Farajpour A. A Deep Learning Approach for the Classification of Fibroglandular Breast Density in Histology Images of Human Breast Tissue. Cancers (Basel) 2025; 17:449. [PMID: 39941816 PMCID: PMC11816254 DOI: 10.3390/cancers17030449] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2024] [Revised: 01/21/2025] [Accepted: 01/24/2025] [Indexed: 02/16/2025] Open
Abstract
BACKGROUND To progress research into the biological mechanisms that link mammographic breast density to breast cancer risk, fibroglandular breast density can be used as a surrogate measure. This study aimed to develop a computational tool to classify fibroglandular breast density in hematoxylin and eosin (H&E)-stained breast tissue sections using deep learning approaches that would assist future mammographic density research. METHODS Four different architectural configurations of transferred MobileNet-v2 convolutional neural networks (CNNs) and four different models of vision transformers were developed and trained on a database of H&E-stained normal human breast tissue sections (965 tissue blocks from 93 patients) that had been manually classified into one of five fibroglandular density classes, with class 1 being very low fibroglandular density and class 5 being very high fibroglandular density. RESULTS The MobileNet-Arc 1 and ViT model 1 achieved the highest overall F1 scores of 0.93 and 0.94, respectively. Both models exhibited the lowest false positive rate and highest true positive rate in class 5, while the most challenging classification was class 3, where images from classes 2 and 4 were mistakenly classified as class 3. The area under the curves (AUCs) for all classes were higher than 0.98. CONCLUSIONS Both the ViT and MobileNet models showed promising performance in the accurate classification of H&E-stained tissue sections across all five fibroglandular density classes, providing a rapid and easy-to-use computational tool for breast density analysis.
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Affiliation(s)
- Hanieh Heydarlou
- Discipline of Surgical Specialties, Adelaide Medical School, University of Adelaide, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia; (H.H.); (L.J.H.); (W.V.I.)
- Robinson Research Institute, University of Adelaide, Adelaide, SA 5006, Australia
| | - Leigh J. Hodson
- Discipline of Surgical Specialties, Adelaide Medical School, University of Adelaide, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia; (H.H.); (L.J.H.); (W.V.I.)
- Robinson Research Institute, University of Adelaide, Adelaide, SA 5006, Australia
| | - Mohsen Dorraki
- School of Computer and Mathematical Sciences, The University of Adelaide, Adelaide, SA 5005, Australia;
- Australian Institute for Machine Learning (AIML), Adelaide, SA 5000, Australia
| | - Theresa E. Hickey
- Dame Roma Mitchell Cancer Research Laboratories, Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; (T.E.H.); (W.D.T.)
| | - Wayne D. Tilley
- Dame Roma Mitchell Cancer Research Laboratories, Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia; (T.E.H.); (W.D.T.)
| | - Eric Smith
- Medical Oncology, Basil Hetzel Institute, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia;
| | - Wendy V. Ingman
- Discipline of Surgical Specialties, Adelaide Medical School, University of Adelaide, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia; (H.H.); (L.J.H.); (W.V.I.)
- Robinson Research Institute, University of Adelaide, Adelaide, SA 5006, Australia
| | - Ali Farajpour
- Discipline of Surgical Specialties, Adelaide Medical School, University of Adelaide, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia; (H.H.); (L.J.H.); (W.V.I.)
- Robinson Research Institute, University of Adelaide, Adelaide, SA 5006, Australia
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Chernigovskaya M, Pavlović M, Kanduri C, Gielis S, Robert P, Scheffer L, Slabodkin A, Haff IH, Meysman P, Yaari G, Sandve GK, Greiff V. Simulation of adaptive immune receptors and repertoires with complex immune information to guide the development and benchmarking of AIRR machine learning. Nucleic Acids Res 2025; 53:gkaf025. [PMID: 39873270 PMCID: PMC11773363 DOI: 10.1093/nar/gkaf025] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/04/2023] [Accepted: 01/25/2025] [Indexed: 01/30/2025] Open
Abstract
Machine learning (ML) has shown great potential in the adaptive immune receptor repertoire (AIRR) field. However, there is a lack of large-scale ground-truth experimental AIRR data suitable for AIRR-ML-based disease diagnostics and therapeutics discovery. Simulated ground-truth AIRR data are required to complement the development and benchmarking of robust and interpretable AIRR-ML methods where experimental data is currently inaccessible or insufficient. The challenge for simulated data to be useful is incorporating key features observed in experimental repertoires. These features, such as antigen or disease-associated immune information, cause AIRR-ML problems to be challenging. Here, we introduce LIgO, a software suite, which simulates AIRR data for the development and benchmarking of AIRR-ML methods. LIgO incorporates different types of immune information both on the receptor and the repertoire level and preserves native-like generation probability distribution. Additionally, LIgO assists users in determining the computational feasibility of their simulations. We show two examples where LIgO supports the development and validation of AIRR-ML methods: (i) how individuals carrying out-of-distribution immune information impacts receptor-level prediction performance and (ii) how immune information co-occurring in the same AIRs impacts the performance of conventional receptor-level encoding and repertoire-level classification approaches. LIgO guides the advancement and assessment of interpretable AIRR-ML methods.
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Affiliation(s)
- Maria Chernigovskaya
- Department of Immunology, University of Oslo and Oslo University Hospital, Oslo, 0372, Norway
| | - Milena Pavlović
- Department of Informatics, University of Oslo, Oslo, 0373, Norway
- UiO:RealArt Convergence Environment, University of Oslo, Oslo, 0373, Norway
| | - Chakravarthi Kanduri
- Department of Informatics, University of Oslo, Oslo, 0373, Norway
- UiO:RealArt Convergence Environment, University of Oslo, Oslo, 0373, Norway
| | - Sofie Gielis
- Department of Mathematics and Computer Science, University of Antwerp, Antwerp, 2020, Belgium
| | - Philippe A Robert
- Department of Immunology, University of Oslo and Oslo University Hospital, Oslo, 0372, Norway
- Department of Biomedicine, University of Basel, Basel, 4031, Switzerland
| | - Lonneke Scheffer
- Department of Informatics, University of Oslo, Oslo, 0373, Norway
| | - Andrei Slabodkin
- Department of Immunology, University of Oslo and Oslo University Hospital, Oslo, 0372, Norway
| | | | - Pieter Meysman
- Department of Mathematics and Computer Science, University of Antwerp, Antwerp, 2020, Belgium
| | - Gur Yaari
- Faculty of Engineering, Bar-Ilan University, Ramat Gan, 5290002, Israel
| | - Geir Kjetil Sandve
- Department of Informatics, University of Oslo, Oslo, 0373, Norway
- UiO:RealArt Convergence Environment, University of Oslo, Oslo, 0373, Norway
| | - Victor Greiff
- Department of Immunology, University of Oslo and Oslo University Hospital, Oslo, 0372, Norway
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Deng J, Heybati K, Yadav H. Development and validation of machine-learning models for predicting the risk of hypertriglyceridemia in critically ill patients receiving propofol sedation using retrospective data: a protocol. BMJ Open 2025; 15:e092594. [PMID: 39842934 PMCID: PMC11784241 DOI: 10.1136/bmjopen-2024-092594] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/18/2024] [Accepted: 01/07/2025] [Indexed: 01/24/2025] Open
Abstract
INTRODUCTION Propofol is a widely used sedative-hypnotic agent for critically ill patients requiring invasive mechanical ventilation (IMV). Despite its clinical benefits, propofol is associated with increased risks of hypertriglyceridemia. Early identification of patients at risk for propofol-associated hypertriglyceridemia is crucial for optimising sedation strategies and preventing adverse outcomes. Machine-learning (ML) models offer a promising approach for predicting individualised patient risks of propofol-associated hypertriglyceridemia. METHODS AND ANALYSIS We propose the development of an ML model aimed at predicting the risk of propofol-associated hypertriglyceridemia in ICU patients receiving IMV. The study will use retrospective data from four Mayo Clinic sites. Nested cross validation (CV) will be employed, with a tenfold inner CV loop for model tuning and selection as well as an outer loop using leave-one-site-out CV for external validation. Feature selection will be conducted using Boruta and least absolute shrinkage and selection operator-penalised logistic regression. Data preprocessing steps include missing data imputation, feature scaling and dimensionality reduction techniques. Six ML algorithms will be tuned and evaluated. Bayesian optimisation will be used for hyperparameter selection. Global model explainability will be assessed using permutation importance, and local model explainability will be assessed using SHapley Additive exPlanations. ETHICS AND DISSEMINATION The proposed ML model aims to provide a reliable and interpretable tool for clinicians to predict the risk of propofol-associated hypertriglyceridemia in ICU patients. The final model will be deployed in a web-based clinical risk calculator. The model development process and performance measures obtained during nested CV will be described in a study publication to be disseminated in a peer-reviewed journal. The proposed study has received ethics approval from the Mayo Clinic Institutional Review Board (IRB #23-0 07 416).
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Affiliation(s)
- Jiawen Deng
- Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
| | - Kiyan Heybati
- Alix School of Medicine, Mayo Clinic, Rochester, Minnesota, USA
| | - Hemang Yadav
- Division of Pulmonary and Critical Care, Mayo Clinic, Rochester, Minnesota, USA
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Bhuyan SS, Sateesh V, Mukul N, Galvankar A, Mahmood A, Nauman M, Rai A, Bordoloi K, Basu U, Samuel J. Generative Artificial Intelligence Use in Healthcare: Opportunities for Clinical Excellence and Administrative Efficiency. J Med Syst 2025; 49:10. [PMID: 39820845 PMCID: PMC11739231 DOI: 10.1007/s10916-024-02136-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/27/2024] [Accepted: 12/19/2024] [Indexed: 01/19/2025]
Abstract
Generative Artificial Intelligence (Gen AI) has transformative potential in healthcare to enhance patient care, personalize treatment options, train healthcare professionals, and advance medical research. This paper examines various clinical and non-clinical applications of Gen AI. In clinical settings, Gen AI supports the creation of customized treatment plans, generation of synthetic data, analysis of medical images, nursing workflow management, risk prediction, pandemic preparedness, and population health management. By automating administrative tasks such as medical documentations, Gen AI has the potential to reduce clinician burnout, freeing more time for direct patient care. Furthermore, application of Gen AI may enhance surgical outcomes by providing real-time feedback and automation of certain tasks in operating rooms. The generation of synthetic data opens new avenues for model training for diseases and simulation, enhancing research capabilities and improving predictive accuracy. In non-clinical contexts, Gen AI improves medical education, public relations, revenue cycle management, healthcare marketing etc. Its capacity for continuous learning and adaptation enables it to drive ongoing improvements in clinical and operational efficiencies, making healthcare delivery more proactive, predictive, and precise.
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Affiliation(s)
- Soumitra S Bhuyan
- Edward J. Bloustein School of Planning and Public Policy, Rutgers, The State University of New Jersey, 255, Civic Square Building 33 Livingston Ave #400, New Brunswick, NJ, 08901, USA.
| | - Vidyoth Sateesh
- Edward J. Bloustein School of Planning and Public Policy, Rutgers, The State University of New Jersey, 255, Civic Square Building 33 Livingston Ave #400, New Brunswick, NJ, 08901, USA
| | - Naya Mukul
- School of Social Policy, Rice University, Houston, TX, USA
| | | | - Asos Mahmood
- Center for Health System Improvement, College of Medicine, The University of Tennessee Health Science Center, Memphis, TN, USA
| | | | - Akash Rai
- Edward J. Bloustein School of Planning and Public Policy, Rutgers, The State University of New Jersey, 255, Civic Square Building 33 Livingston Ave #400, New Brunswick, NJ, 08901, USA
| | - Kahuwa Bordoloi
- Department of Psychology and Counselling, St. Joseph's University, Bangalore, India
| | - Urmi Basu
- Insight Biopharma, Princeton, NJ, USA
| | - Jim Samuel
- Edward J. Bloustein School of Planning and Public Policy, Rutgers, The State University of New Jersey, 255, Civic Square Building 33 Livingston Ave #400, New Brunswick, NJ, 08901, USA
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Mingard C, Rees H, Valle-Pérez G, Louis AA. Deep neural networks have an inbuilt Occam's razor. Nat Commun 2025; 16:220. [PMID: 39809746 PMCID: PMC11733143 DOI: 10.1038/s41467-024-54813-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/28/2023] [Accepted: 11/18/2024] [Indexed: 01/16/2025] Open
Abstract
The remarkable performance of overparameterized deep neural networks (DNNs) must arise from an interplay between network architecture, training algorithms, and structure in the data. To disentangle these three components for supervised learning, we apply a Bayesian picture based on the functions expressed by a DNN. The prior over functions is determined by the network architecture, which we vary by exploiting a transition between ordered and chaotic regimes. For Boolean function classification, we approximate the likelihood using the error spectrum of functions on data. Combining this with the prior yields an accurate prediction for the posterior, measured for DNNs trained with stochastic gradient descent. This analysis shows that structured data, together with a specific Occam's razor-like inductive bias towards (Kolmogorov) simple functions that exactly counteracts the exponential growth of the number of functions with complexity, is a key to the success of DNNs.
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Affiliation(s)
- Chris Mingard
- Rudolf Peierls Centre for Theoretical Physics, University of Oxford, Oxford, UK
- Physical and Theoretical Chemistry Laboratory, University of Oxford, Oxford, UK
| | - Henry Rees
- Rudolf Peierls Centre for Theoretical Physics, University of Oxford, Oxford, UK
| | | | - Ard A Louis
- Rudolf Peierls Centre for Theoretical Physics, University of Oxford, Oxford, UK.
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Deng J, Heybati K, Yadav H. Protocol for the development and validation of machine-learning models for predicting the risk of hypertriglyceridemia in critically ill patients receiving propofol sedation using retrospective data. MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES 2025:2024.08.17.24312159. [PMID: 39228709 PMCID: PMC11370510 DOI: 10.1101/2024.08.17.24312159] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/05/2024]
Abstract
Introduction Propofol is a widely used sedative-hypnotic agent for critically-ill patients requiring invasive mechanical ventilation (IMV). Despite its clinical benefits, propofol is associated with increased risks of hypertriglyceridemia. Early identification of patients at risk for propofol-associated hypertriglyceridemia is crucial for optimizing sedation strategies and preventing adverse outcomes. Machine learning (ML) models offer a promising approach for predicting individualized patient risks of propofol-associated hypertriglyceridemia. Methods and analysis We propose the development of a ML model aimed at predicting the risk of propofol-associated hypertriglyceridemia in ICU patients receiving IMV. The study will utilize retrospective data from four Mayo Clinic sites. Nested cross-validation (CV) will be employed, with a 10-fold inner CV loop for model tuning and selection as well as an outer loop using leave-one-site-out CV for external validation. Feature selection will be conducted using Boruta and LASSO-penalized logistic regression. Data preprocessing steps include missing data imputation, feature scaling, and dimensionality reduction techniques. Six ML algorithms will be tuned and evaluated. Bayesian optimization will be used for hyperparameter selection. Global model explainability will be assessed using permutation importance, and local model explainability will be assessed using SHapley Additive exPlanations (SHAP). Ethics and dissemination The proposed ML model aims to provide a reliable and interpretable tool for clinicians to predict the risk of propofol-associated hypertriglyceridemia in ICU patients. The final model will be deployed in a web-based clinical risk calculator. The model development process and performance measures obtained during nested cross-validation will be described in a study publication to be disseminated in a peer-reviewed journal. The proposed study has received ethics approval from the Mayo Clinic Institutional Review Board (IRB #23-007416). Strengths and limitations of this study Robust external validation using a nested cross-validation (CV) framework will help assess the generalizability of models produced from the modeling pipeline across different hospital settings.A diverse set of machine learning (ML) algorithms and advanced hyperparameter tuning techniques will be employed to identify the most optimal model configuration.Integration of feature explainability will enhance the clinical applicability of the ML models by providing transparency in predictions, which can improve clinician trust and encourage adoption.Reliance on retrospective data may introduce biases due to inconsistent or erroneous data collection, and the computational intensity of the validation approach may limit replication and future model expansion in resource-constrained settings.
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49
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Mirakhori F, Niazi SK. Harnessing the AI/ML in Drug and Biological Products Discovery and Development: The Regulatory Perspective. Pharmaceuticals (Basel) 2025; 18:47. [PMID: 39861110 PMCID: PMC11769376 DOI: 10.3390/ph18010047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2024] [Revised: 12/20/2024] [Accepted: 12/30/2024] [Indexed: 01/27/2025] Open
Abstract
Artificial Intelligence (AI) has the disruptive potential to transform patients' lives via innovations in pharmaceutical sciences, drug development, clinical trials, and manufacturing. However, it presents significant challenges, ethical concerns, and risks across sectors and societies. AI's rapid advancement has revealed regulatory gaps as existing public policies struggle to keep pace with the challenges posed by these emerging technologies. The term AI itself has become commonplace to argue that greater "human oversight" for "machine intelligence" is needed to harness the power of this revolutionary technology for both potential and risk management, and hence to call for more practical regulatory guidelines, harmonized frameworks, and effective policies to ensure safety, scalability, data privacy, and governance, transparency, and equitable treatment. In this review paper, we employ a holistic multidisciplinary lens to survey the current regulatory landscape with a synopsis of the FDA workshop perspectives on the use of AI in drug and biological product development. We discuss the promises of responsible data-driven AI, challenges and related practices adopted to overcome limitations, and our practical reflections on regulatory oversight. Finally, the paper outlines a path forward and future opportunities for lawful ethical AI. This review highlights the importance of risk-based regulatory oversight, including diverging regulatory views in the field, in reaching a consensus.
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Affiliation(s)
- Fahimeh Mirakhori
- College of Natural and Mathematics Sciences, University of Maryland, Baltimore County (UMBC), USG, Rockville, MD 20850, USA;
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50
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Obeidat R, Alsmadi I, Baker QB, Al-Njadat A, Srinivasan S. Researching public health datasets in the era of deep learning: a systematic literature review. Health Informatics J 2025; 31:14604582241307839. [PMID: 39794941 DOI: 10.1177/14604582241307839] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2025]
Abstract
Objective: Explore deep learning applications in predictive analytics for public health data, identify challenges and trends, and then understand the current landscape. Materials and Methods: A systematic literature review was conducted in June 2023 to search articles on public health data in the context of deep learning, published from the inception of medical and computer science databases through June 2023. The review focused on diverse datasets, abstracting applications, challenges, and advancements in deep learning. Results: 2004 articles were reviewed, identifying 14 disease categories. Observed trends include explainable-AI, patient embedding learning, and integrating different data sources and employing deep learning models in health informatics. Noted challenges were technical reproducibility and handling sensitive data. Discussion: There has been a notable surge in deep learning applications on public health data publications since 2015. Consistent deep learning applications and models continue to be applied across public health data. Despite the wide applications, a standard approach still does not exist for addressing the outstanding challenges and issues in this field. Conclusion: Guidelines are needed for applying deep learning and models in public health data to improve FAIRness, efficiency, transparency, comparability, and interoperability of research. Interdisciplinary collaboration among data scientists, public health experts, and policymakers is needed to harness the full potential of deep learning.
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Affiliation(s)
- Rand Obeidat
- Department of Management Information Systems, Bowie State University, Bowie, USA
| | - Izzat Alsmadi
- Department of Computational, Engineering and Mathematical Sciences, Texas A & M San Antonio, San Antonio, USA
| | - Qanita Bani Baker
- Department of Computer Science, Jordan University of Science and Technology, Irbid, Jordan
| | | | - Sriram Srinivasan
- Department of Management Information Systems, Bowie State University, Bowie, USA
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