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Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas.

Nakase T, Henderson GA, Barba T, Bareja R, Guerra G, Zhao Q, Francis SS, Gevaert O, Kachuri L

pubmed logopapersJun 16 2025
The molecular profiling of gliomas for isocitrate dehydrogenase (IDH) mutations currently relies on resected tumor samples, highlighting the need for non-invasive, preoperative biomarkers. We investigated the integration of glioma polygenic risk scores (PRS) and radiographic features for prediction of IDH mutation status. We used 256 radiomic features, a glioma PRS and demographic information in 158 glioma cases within elastic net and neural network models. The integration of glioma PRS with radiomics increased the area under the receiver operating characteristic curve (AUC) for distinguishing IDH-wildtype vs. IDH-mutant glioma from 0.83 to 0.88 (P<sub>ΔAUC</sub> = 6.9 × 10<sup>-5</sup>) in the elastic net model and from 0.91 to 0.92 (P<sub>ΔAUC</sub> = 0.32) in the neural network model. Incorporating age at diagnosis and sex further improved the classifiers (elastic net: AUC = 0.93, neural network: AUC = 0.93). Patients predicted to have IDH-mutant vs. IDH-wildtype tumors had significantly lower mortality risk (hazard ratio (HR) = 0.18, 95% CI: 0.08-0.40, P = 2.1 × 10<sup>-5</sup>), comparable to prognostic trajectories for biopsy-confirmed IDH status. The augmentation of imaging-based classifiers with genetic risk profiles may help delineate molecular subtypes and improve the timely, non-invasive clinical assessment of glioma patients.

Default Mode Network Connectivity Predicts Individual Differences in Long-Term Forgetting: Evidence for Storage Degradation, not Retrieval Failure

Xu, Y., Prat, C. S., Sense, F., van Rijn, H., Stocco, A.

biorxiv logopreprintJun 16 2025
Despite the importance of memories in everyday life and the progress made in understanding how they are encoded and retrieved, the neural processes by which declarative memories are maintained or forgotten remain elusive. Part of the problem is that it is empirically difficult to measure the rate at which memories fade, even between repeated presentations of the source of the memory. Without such a ground-truth measure, it is hard to identify the corresponding neural correlates. This study addresses this problem by comparing individual patterns of functional connectivity against behavioral differences in forgetting speed derived from computational phenotyping. Specifically, the individual-specific values of the speed of forgetting in long-term memory (LTM) were estimated for 33 participants using a formal model fit to accuracy and response time data from an adaptive paired-associate learning task. Individual speeds of forgetting were then used to examine participant-specific patterns of resting-state fMRI connectivity, using machine learning techniques to identify the most predictive and generalizable features. Our results show that individual speeds of forgetting are associated with resting-state connectivity within the default mode network (DMN) as well as between the DMN and cortical sensory areas. Cross-validation showed that individual speeds of forgetting were predicted with high accuracy (r = .78) from these connectivity patterns alone. These results support the view that DMN activity and the associated sensory regions are actively involved in maintaining memories and preventing their decline, a view that can be seen as evidence for the hypothesis that forgetting is a result of storage degradation, rather than of retrieval failure.

Whole-lesion-aware network based on freehand ultrasound video for breast cancer assessment: a prospective multicenter study.

Han J, Gao Y, Huo L, Wang D, Xie X, Zhang R, Xiao M, Zhang N, Lei M, Wu Q, Ma L, Sun C, Wang X, Liu L, Cheng S, Tang B, Wang L, Zhu Q, Wang Y

pubmed logopapersJun 16 2025
The clinical application of artificial intelligence (AI) models based on breast ultrasound static images has been hindered in real-world workflows due to operator-dependence of standardized image acquisition and incomplete view of breast lesions on static images. To better exploit the real-time advantages of ultrasound and more conducive to clinical application, we proposed a whole-lesion-aware network based on freehand ultrasound video (WAUVE) scanning in an arbitrary direction for predicting overall breast cancer risk score. The WAUVE was developed using 2912 videos (2912 lesions) of 2771 patients retrospectively collected from May 2020 to August 2022 in two hospitals. We compared the diagnostic performance of WAUVE with static 2D-ResNet50 and dynamic TimeSformer models in the internal validation set. Subsequently, a dataset comprising 190 videos (190 lesions) from 175 patients prospectively collected from December 2022 to April 2023 in two other hospitals, was used as an independent external validation set. A reader study was conducted by four experienced radiologists on the external validation set. We compared the diagnostic performance of WAUVE with the four experienced radiologists and evaluated the auxiliary value of model for radiologists. The WAUVE demonstrated superior performance compared to the 2D-ResNet50 model, while similar to the TimeSformer model. In the external validation set, WAUVE achieved an area under the receiver operating characteristic curve (AUC) of 0.8998 (95% CI = 0.8529-0.9439), and showed a comparable diagnostic performance to that of four experienced radiologists in terms of sensitivity (97.39% vs. 98.48%, p = 0.36), specificity (49.33% vs. 50.00%, p = 0.92), and accuracy (78.42% vs.79.34%, p = 0.60). With the WAUVE model assistance, the average specificity of four experienced radiologists was improved by 6.67%, and higher consistency was achieved (from 0.807 to 0.838). The WAUVE based on non-standardized ultrasound scanning demonstrated excellent performance in breast cancer assessment which yielded outcomes similar to those of experienced radiologists, indicating the clinical application of the WAUVE model promising.

Precision Medicine and Machine Learning to predict critical disease and death due to Coronavirus disease 2019 (COVID-19).

Júnior WLDT, Danelli T, Tano ZN, Cassela PLCS, Trigo GL, Cardoso KM, Loni LP, Ahrens TM, Espinosa BR, Fernandes AJ, Almeida ERD, Lozovoy MAB, Reiche EMV, Maes M, Simão ANC

pubmed logopapersJun 16 2025
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes Coronavirus Disease 2019 (COVID-19) and induces activation of inflammatory pathways, including the inflammasome. The aim was to construct Machine Learning (ML) models to predict critical disease and death in patients with COVID-19. A total of 528 individuals with SARS-CoV-2 infection were included, comprising 308 with critical and 220 with non-critical COVID-19. The ML models included imaging, demographic, inflammatory biomarkers, NLRP3 (rs10754558 and rs10157379) and IL18 (rs360717 and rs187238) inflammasome variants. Individuals with critical COVID-19 were older, higher male/female ratio, body mass index (BMI), rate of type 2 diabetes mellitus (T2DM), hypertension, inflammatory biomarkers, need of orotracheal intubation, intensive care unit admission, incidence of death, and sickness symptom complex (SSC) scores and lower peripheral oxygen saturation (SpO<sub>2</sub>) compared to those with non-critical disease. We found that 49.5 % of the variance in the severity of critical COVID-19 was explained by SpO<sub>2</sub> and SSC (negatively associated), chest computed tomography alterations (CCTA), inflammatory biomarkers, severe acute respiratory syndrome (SARS), BMI, T2DM, and age (positively associated). In this model, the NLRP3/IL18 variants showed indirect effects on critical COVID-19 that were mediated by inflammatory biomarkers, SARS, and SSC. Neural network models yielded a prediction of critical disease and death due to COVID-19 with an area under the receiving operating characteristic curve of 0.930 and 0.927, respectively. These ML methods increase the accuracy of predicting severity, critical illness, and mortality caused by COVID-19 and show that the genetic variants contribute to the predictive power of the ML models.

Imaging-Based AI for Predicting Lymphovascular Space Invasion in Cervical Cancer: Systematic Review and Meta-Analysis.

She L, Li Y, Wang H, Zhang J, Zhao Y, Cui J, Qiu L

pubmed logopapersJun 16 2025
The role of artificial intelligence (AI) in enhancing the accuracy of lymphovascular space invasion (LVSI) detection in cervical cancer remains debated. This meta-analysis aimed to evaluate the diagnostic accuracy of imaging-based AI for predicting LVSI in cervical cancer. We conducted a comprehensive literature search across multiple databases, including PubMed, Embase, and Web of Science, identifying studies published up to November 9, 2024. Studies were included if they evaluated the diagnostic performance of imaging-based AI models in detecting LVSI in cervical cancer. We used a bivariate random-effects model to calculate pooled sensitivity and specificity with corresponding 95% confidence intervals. Study heterogeneity was assessed using the I2 statistic. Of 403 studies identified, 16 studies (2514 patients) were included. For the interval validation set, the pooled sensitivity, specificity, and area under the curve (AUC) for detecting LVSI were 0.84 (95% CI 0.79-0.87), 0.78 (95% CI 0.75-0.81), and 0.87 (95% CI 0.84-0.90). For the external validation set, the pooled sensitivity, specificity, and AUC for detecting LVSI were 0.79 (95% CI 0.70-0.86), 0.76 (95% CI 0.67-0.83), and 0.84 (95% CI 0.81-0.87). Using the likelihood ratio test for subgroup analysis, deep learning demonstrated significantly higher sensitivity compared to machine learning (P=.01). Moreover, AI models based on positron emission tomography/computed tomography exhibited superior sensitivity relative to those based on magnetic resonance imaging (P=.01). Imaging-based AI, particularly deep learning algorithms, demonstrates promising diagnostic performance in predicting LVSI in cervical cancer. However, the limited external validation datasets and the retrospective nature of the research may introduce potential biases. These findings underscore AI's potential as an auxiliary diagnostic tool, necessitating further large-scale prospective validation.

MultiViT2: A Data-augmented Multimodal Neuroimaging Prediction Framework via Latent Diffusion Model

Bi Yuda, Jia Sihan, Gao Yutong, Abrol Anees, Fu Zening, Calhoun Vince

arxiv logopreprintJun 16 2025
Multimodal medical imaging integrates diverse data types, such as structural and functional neuroimaging, to provide complementary insights that enhance deep learning predictions and improve outcomes. This study focuses on a neuroimaging prediction framework based on both structural and functional neuroimaging data. We propose a next-generation prediction model, \textbf{MultiViT2}, which combines a pretrained representative learning base model with a vision transformer backbone for prediction output. Additionally, we developed a data augmentation module based on the latent diffusion model that enriches input data by generating augmented neuroimaging samples, thereby enhancing predictive performance through reduced overfitting and improved generalizability. We show that MultiViT2 significantly outperforms the first-generation model in schizophrenia classification accuracy and demonstrates strong scalability and portability.

Predicting mucosal healing in Crohn's disease: development of a deep-learning model based on intestinal ultrasound images.

Ma L, Chen Y, Fu X, Qin J, Luo Y, Gao Y, Li W, Xiao M, Cao Z, Shi J, Zhu Q, Guo C, Wu J

pubmed logopapersJun 16 2025
Predicting treatment response in Crohn's disease (CD) is essential for making an optimal therapeutic regimen, but relevant models are lacking. This study aimed to develop a deep learning model based on baseline intestinal ultrasound (IUS) images and clinical information to predict mucosal healing. Consecutive CD patients who underwent pretreatment IUS were retrospectively recruited at a tertiary hospital. A total of 1548 IUS images of longitudinal diseased bowel segments were collected and divided into a training cohort and a test cohort. A convolutional neural network model was developed to predict mucosal healing after one year of standardized treatment. The model's efficacy was validated using the five-fold internal cross-validation and further tested in the test cohort. A total of 190 patients (68.9% men, mean age 32.3 ± 14.1 years) were enrolled, consisting of 1038 IUS images of mucosal healing and 510 images of no mucosal healing. The mean area under the curve in the test cohort was 0.73 (95% CI: 0.68-0.78), with the mean sensitivity of 68.1% (95% CI: 60.5-77.4%), specificity of 69.5% (95% CI: 60.1-77.2%), positive prediction value of 80.0% (95% CI: 74.5-84.9%), negative prediction value of 54.8% (95% CI: 48.0-63.7%). Heat maps showing the deep-learning decision-making process revealed that information from the bowel wall, serous surface, and surrounding mesentery was mainly considered by the model. We developed a deep learning model based on IUS images to predict mucosal healing in CD with notable accuracy. Further validation and improvement of this model with more multi-center, real-world data are needed. Predicting treatment response in CD is essential to making an optimal therapeutic regimen. In this study, a deep-learning model using pretreatment ultrasound images and clinical information was generated to predict mucosal healing with an AUC of 0.73. Response to medication treatment is highly variable among patients with CD. High-resolution IUS images of the intestinal wall may hide significant characteristics for treatment response. A deep-learning model capable of predicting treatment response was generated using pretreatment IUS images.

Interpretable deep fuzzy network-aided detection of central lymph node metastasis status in papillary thyroid carcinoma.

Wang W, Ning Z, Zhang J, Zhang Y, Wang W

pubmed logopapersJun 16 2025
The non-invasive assessment of central lymph node metastasis (CLNM) in patients with papillary thyroid carcinoma (PTC) plays a crucial role in assisting treatment decision and prognosis planning. This study aims to use an interpretable deep fuzzy network guided by expert knowledge to predict the CLNM status of patients with PTC from ultrasound images. A total of 1019 PTC patients were enrolled in this study, comprising 465 CLNM patients and 554 non-CLNM patients. Pathological diagnosis served as the gold standard to determine metastasis status. Clinical and morphological features of thyroid were collected as expert knowledge to guide the deep fuzzy network in predicting CLNM status. The network consisted of a region of interest (ROI) segmentation module, a knowledge-aware feature extraction module, and a fuzzy prediction module. The network was trained on 652 patients, validated on 163 patients and tested on 204 patients. The model exhibited promising performance in predicting CLNM status, achieving the area under the receiver operating characteristic curve (AUC), accuracy, precision, sensitivity and specificity of 0.786 (95% CI 0.720-0.846), 0.745 (95% CI 0.681-0.799), 0.727 (95% CI 0.636-0.819), 0.696 (95% CI 0.594-0.789), and 0.786 (95% CI 0.712-0.864), respectively. In addition, the rules of the fuzzy system in the model are easy to understand and explain, and have good interpretability. The deep fuzzy network guided by expert knowledge predicted CLNM status of PTC patients with high accuracy and good interpretability, and may be considered as an effective tool to guide preoperative clinical decision-making.

FairICP: identifying biases and increasing transparency at the point of care in post-implementation clinical decision support using inductive conformal prediction.

Sun X, Nakashima M, Nguyen C, Chen PH, Tang WHW, Kwon D, Chen D

pubmed logopapersJun 15 2025
Fairness concerns stemming from known and unknown biases in healthcare practices have raised questions about the trustworthiness of Artificial Intelligence (AI)-driven Clinical Decision Support Systems (CDSS). Studies have shown unforeseen performance disparities in subpopulations when applied to clinical settings different from training. Existing unfairness mitigation strategies often struggle with scalability and accessibility, while their pursuit of group-level prediction performance parity does not effectively translate into fairness at the point of care. This study introduces FairICP, a flexible and cost-effective post-implementation framework based on Inductive Conformal Prediction (ICP), to provide users with actionable knowledge of model uncertainty due to subpopulation level biases at the point of care. FairICP applies ICP to identify the model's scope of competence through group specific calibration, ensuring equitable prediction reliability by filtering predictions that fall within the trusted competence boundaries. We evaluated FairICP against four benchmarks on three medical imaging modalities: (1) Cardiac Magnetic Resonance Imaging (MRI), (2) Chest X-ray and (3) Dermatology Imaging, acquired from both private and large public datasets. Frameworks are assessed on prediction performance enhancement and unfairness mitigation capabilities. Compared to the baseline, FairICP improved prediction accuracy by 7.2% and reduced the accuracy gap between the privileged and unprivileged subpopulations by 2.2% on average across all three datasets. Our work provides a robust solution to promote trust and transparency in AI-CDSS, fostering equality and equity in healthcare for diverse patient populations. Such post-process methods are critical to enabling a robust framework for AI-CDSS implementation and monitoring for healthcare settings.
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