Accurate preoperative assessment of axillary lymph node metastasis (ALNM) in breast cancer is crucial for guiding treatment decisions. This study aimed to develop a deep-learning radiomics model for assessing ALNM and to evaluate its impact on radiologists' diagnostic accuracy. This multicenter study included 866 breast cancer patients from 6 hospitals. The data were categorized into training, internal test, external test, and prospective test sets. Deep learning and handcrafted radiomics features were extracted from ultrasound images of primary tumors and lymph nodes. The tumor score and LN score were calculated following feature selection, and a clinical-radiomics model was constructed based on these scores along with clinical-ultrasonic risk factors. The model's performance was validated across the 3 test sets. Additionally, the diagnostic performance of radiologists, with and without model assistance, was evaluated. The clinical-radiomics model demonstrated robust discrimination with AUCs of 0.94, 0.92, 0.91, and 0.95 in the training, internal test, external test, and prospective test sets, respectively. It surpassed the clinical model and single score in all sets (P < .05). Decision curve analysis and clinical impact curves validated the clinical utility of the clinical-radiomics model. Moreover, the model significantly improved radiologists' diagnostic accuracy, with AUCs increasing from 0.71 to 0.82 for the junior radiologist and from 0.75 to 0.85 for the senior radiologist. The clinical-radiomics model effectively predicts ALNM in breast cancer patients using noninvasive ultrasound features. Additionally, it enhances radiologists' diagnostic accuracy, potentially optimizing resource allocation in breast cancer management.

To perform a systematic review on artificial intelligence (AI) studies focused on identifying and differentiating pelvic gynecological tumors on ultrasound scans. Studies developing or validating AI models for diagnosing gynecological pelvic tumors on ultrasound scans were eligible for inclusion. We systematically searched PubMed, Embase, Web of Science, and Cochrane Central from their database inception until April 30th, 2024. To assess the quality of the included studies, we adapted the QUADAS-2 risk of bias tool to address the unique challenges of AI in medical imaging. Using multi-level random effects models, we performed a meta-analysis to generate summary estimates of the area under the receiver operating characteristic curve (AUC), sensitivity, and specificity. To provide a reference point of current diagnostic support tools for ultrasound examiners, we descriptively compared the pooled performance to that of the well-recognized ADNEX model on external validation. Subgroup analyses were performed to explore sources of heterogeneity. From 9151 records retrieved, 44 studies were eligible: 40 on ovarian, three on endometrial, and one on myometrial pathology. Overall, 95% were at high risk of bias - primarily due to inappropriate study inclusion criteria, the absence of a patient-level split of training and testing image sets, and no calibration assessment. For ovarian tumors, the summary AUC for AI models distinguishing benign from malignant tumors was 0.89 (95% CI: 0.85-0.92). In lower-risk studies (at least three low-risk domains), the summary AUC dropped to 0.87 (0.83-0.90), with deep learning models outperforming radiomics-based machine learning approaches in this subset. Only five studies included an external validation, and six evaluated calibration performance. In a recent systematic review of external validation studies, the ADNEX model had a pooled AUC of 0.93 (0.91-0.94) in studies at low risk of bias. Studies on endometrial and myometrial pathologies were reported individually. Although AI models show promising discriminative performances for diagnosing gynecological tumors on ultrasound, most studies have methodological shortcomings that result in a high risk of bias. In addition, the ADNEX model appears to outperform most AI approaches for ovarian tumors. Future research should emphasize robust study designs - ideally large, multicenter, and prospective cohorts that mirror real-world populations - along with external validation, proper calibration, and standardized reporting. This study was pre-registered with Open Science Framework (OSF): https://doi.org/10.17605/osf.io/bhkst.

Previous resting state functional MRI (rs-fMRI) analyses of the basal ganglia in Parkinson's disease heavily relied on T1-weighted imaging (T1WI) atlases. However, subcortical structures are characterized by subtle contrast differences, making their accurate delineation challenging on T1WI. In this study, we aimed to introduce and validate a method that incorporates quantitative susceptibility mapping (QSM) into the rs-fMRI analytical pipeline to achieve precise subcortical nuclei segmentation and improve the stability of RSFC measurements in Parkinson's disease. A total of 321 participants (148 patients with Parkinson's Disease and 173 normal controls) were enrolled. We performed cross-modal registration at the individual level for rs-fMRI to QSM (FUNC2QSM) and T1WI (FUNC2T1), respectively.The consistency and accuracy of resting state functional connectivity (RSFC) measurements in two registration approaches were assessed by intraclass correlation coefficient and mutual information. Bootstrap analysis was performed to validate the stability of the RSFC differences between Parkinson's disease and normal controls. RSFC-based machine learning models were constructed for Parkinson's disease classification, using optimized hyperparameters (RandomizedSearchCV with 5-fold cross-validation). The consistency of RSFC measurements between the two registration methods was poor, whereas the QSM-guided approach showed better mutual information values, suggesting higher registration accuracy. The disruptions of RSFC identified with the QSM-guided approach were more stable and reliable, as confirmed by bootstrap analysis. In classification models, the QSM-guided method consistently outperformed the T1WI-guided method, achieving higher test-set ROC-AUC values (FUNC2QSM: 0.87-0.90, FUNC2T1: 0.67-0.70). The QSM-guided approach effectively enhanced the accuracy of subcortical segmentation and the stability of RSFC measurement, thus facilitating future biomarker development in Parkinson's disease.

BackgroundIn glioblastoma (GBM), promoter methylation of the O6-methylguanine-DNA methyltransferase (MGMT) is associated with beneficial chemotherapy but has not been accurately evaluated based on radiological and pathological sections. To develop and validate an MRI and pathology image-based deep learning radiopathomics model for predicting MGMT promoter methylation in patients with GBM. MethodsA retrospective collection of pathologically confirmed isocitrate dehydrogenase (IDH) wild-type GBM patients (n=207) from three centers was performed, all of whom underwent MRI scanning within 2 weeks prior to surgery. The pre-trained ResNet50 was used as the feature extractor. Features of 1024 dimensions were extracted from MRI and pathological images, respectively, and the features were screened for modeling. Then feature fusion was performed by calculating the normalized multimode MRI fusion features and pathological features, and prediction models of MGMT based on deep learning radiomics, pathomics, and radiopathomics (DLRM, DLPM, DLRPM) were constructed and applied to internal and external validation cohorts. ResultsIn the training, internal and external validation cohorts, the DLRPM further improved the predictive performance, with a significantly better predictive performance than the DLRM and DLPM, with AUCs of 0.920 (95% CI 0.870-0.968), 0.854 (95% CI 0.702-1), and 0.840 (95% CI 0.625-1). ConclusionWe developed and validated cross-scale radiology and pathology models for predicting MGMT methylation status, with DLRPM predicting the best performance, and this cross-scale approach paves the way for further research and clinical applications in the future.

To evaluate spectrum bias in stroke MRI analysis by excluding cases with uncertain acute ischemic lesions (AIL) and examining patient, imaging, and lesion factors associated with these cases. This single-center retrospective observational study included adults with brain MRIs for suspected stroke between January 2020 and April 2022. Diagnostic uncertain AIL were identified through reader disagreement or low certainty grading by a radiology resident, a neuroradiologist, and the original radiology report consisting of various neuroradiologists. A commercially available deep learning tool analyzing brain MRIs for AIL was evaluated to assess the impact of excluding uncertain cases on diagnostic odds ratios. Patient-related, MRI acquisition-related, and lesion-related factors were analyzed using the Wilcoxon rank sum test, χ2 test, and multiple logistic regression. The study was approved by the National Committee on Health Research Ethics. In 989 patients (median age 73 (IQR: 59-80), 53% female), certain AIL were found in 374 (38%), uncertain AIL in 63 (6%), and no AIL in 552 (56%). Excluding uncertain cases led to a four-fold increase in the diagnostic odds ratio (from 68 to 278), while a simulated case-control design resulted in a six-fold increase compared to the full disease spectrum (from 68 to 431). Independent factors associated with uncertain AIL were MRI artifacts, smaller lesion size, older lesion age, and infratentorial location. Excluding uncertain cases leads to a four-fold overestimation of the diagnostic odds ratio. MRI artifacts, smaller lesion size, infratentorial location, and older lesion age are associated with uncertain AIL and should be accounted for in validation studies.

Early detection and accurate diagnosis are essential to improving patient outcomes. The use of convolutional neural networks (CNNs) for tumor detection has shown promise, but existing models often suffer from overparameterization, which limits their performance gains. In this study, fuzzy sigmoid convolution (FSC) is introduced along with two additional modules: top-of-the-funnel and middle-of-the-funnel. The proposed methodology significantly reduces the number of trainable parameters without compromising classification accuracy. A novel convolutional operator is central to this approach, effectively dilating the receptive field while preserving input data integrity. This enables efficient feature map reduction and enhances the model's tumor detection capability. In the FSC-based model, fuzzy sigmoid activation functions are incorporated within convolutional layers to improve feature extraction and classification. The inclusion of fuzzy logic into the architecture improves its adaptability and robustness. Extensive experiments on three benchmark datasets demonstrate the superior performance and efficiency of the proposed model. The FSC-based architecture achieved classification accuracies of 99.17%, 99.75%, and 99.89% on three different datasets. The model employs 100 times fewer parameters than large-scale transfer learning architectures, highlighting its computational efficiency and suitability for detecting brain tumors early. This research offers lightweight, high-performance deep-learning models for medical imaging applications.

Diffusion models (DMs) excel in pixel-level and spatial tasks and are proven feature extractors for 2D image discriminative tasks when pretrained. However, their capabilities in 3D MRI discriminative tasks remain largely untapped. This study seeks to assess the effectiveness of DMs in this underexplored area. We use 59830 T1-weighted MR images (T1WIs) from the extensive, yet unlabeled, UK Biobank dataset. Additionally, we apply 369 T1WIs from the BraTS2020 dataset specifically for brain tumor classification, and 421 T1WIs from the ADNI1 dataset for the diagnosis of Alzheimer's disease. Firstly, a high-performing denoising diffusion probabilistic model (DDPM) with a U-Net backbone is pretrained on the UK Biobank, then fine-tuned on the BraTS2020 and ADNI1 datasets. Afterward, we assess its feature representation capabilities for discriminative tasks using linear probes. Finally, we accordingly introduce a novel fusion module, named CATS, that enhances the U-Net representations, thereby improving performance on discriminative tasks. Our DDPM produces synthetic images of high quality that match the distribution of the raw datasets. Subsequent analysis reveals that DDPM features extracted from middle blocks and smaller timesteps are of high quality. Leveraging these features, the CATS module, with just 1.7M additional parameters, achieved average classification scores of 0.7704 and 0.9217 on the BraTS2020 and ADNI1 datasets, demonstrating competitive performance with that of the representations extracted from the transferred DDPM model, as well as the 33.23M parameters ResNet18 trained from scratch. We have found that pretraining a DM on a large-scale dataset and then fine-tuning it on limited data from discriminative datasets is a viable approach for MRI data. With these well-performing DMs, we show that they excel not just in generation tasks but also as feature extractors when combined with our proposed CATS module.

Gliomas are the most prevalent and aggressive neoplasms of the central nervous system, representing a major challenge for effective treatment and patient prognosis. This study identifies the proteasome subunit beta type-8 (PSMB8/LMP7) as a promising prognostic biomarker for glioma. Using a multiparametric radiomic model derived from preoperative magnetic resonance imaging (MRI), we accurately predicted PSMB8 expression levels. Notably, radiomic prediction of poor prognosis was highly consistent with elevated PSMB8 expression. Our findings demonstrate that PSMB8 depletion not only suppressed glioma cell proliferation and migration but also induced apoptosis via activation of the transforming growth factor beta (TGF-β) signaling pathway. This was supported by downregulation of key receptors (TGFBR1 and TGFBR2). Furthermore, interference with PSMB8 expression impaired phosphorylation and nuclear translocation of SMAD2/3, critical mediators of TGF-β signaling. Consequently, these molecular alterations resulted in reduced tumor progression and enhanced sensitivity to temozolomide (TMZ), a standard chemotherapeutic agent. Overall, our findings highlight PSMB8's pivotal role in glioma pathophysiology and its potential as a prognostic marker. This study also demonstrates the clinical utility of MRI radiomics for preoperative risk stratification and pre-diagnosis. Targeted inhibition of PSMB8 may represent a therapeutic strategy to overcome TMZ resistance and improve glioma patient outcomes.

Oculomics is the science of analyzing ocular data to identify, diagnose, and manage systemic disease. This article focuses on prescreening, its use with retinal images analyzed by artificial intelligence (AI), to identify ocular or systemic disease or potential disease in asymptomatic individuals. The implementation of prescreening in a coordinated care system, defined as Healthcare From the Eye prescreening, has the potential to improve access, affordability, equity, quality, and safety of health care on a global level. Stakeholders include physicians, payers, policymakers, regulators and representatives from industry, government, and data privacy sectors. The combination of AI analysis of ocular data with automated technologies that capture images during routine eye examinations enables prescreening of large populations for chronic disease. Retinal images can be acquired during either a routine eye examination or in settings outside of eye care with readily accessible, safe, quick, and noninvasive retinal imaging devices. The outcome of such an examination can then be digitally communicated across relevant stakeholders in a coordinated fashion to direct a patient to screening and monitoring services. Such an approach offers the opportunity to transform health care delivery and improve early disease detection, improve access to care, enhance equity especially in rural and underserved communities, and reduce costs. With effective implementation and collaboration among key stakeholders, this approach has the potential to contribute to an equitable and effective health care system.

Phyllodes tumors (PTs) are rare breast tumors with high recurrence rates, current methods relying on post-resection pathology often delay detection and require further surgery. We propose a deep-learning-based Phyllodes Tumors Hierarchical Diagnosis Model (PTs-HDM) for preoperative identification and grading. Ultrasound images from five hospitals were retrospectively collected, with all patients having undergone surgical pathological confirmation of either PTs or fibroadenomas (FAs). PTs-HDM follows a two-stage classification: first distinguishing PTs from FAs, then grading PTs into benign or borderline/malignant. Model performance metrics including AUC and accuracy were quantitatively evaluated. A comparative analysis was conducted between the algorithm's diagnostic capabilities and those of radiologists with varying clinical experience within an external validation cohort. Through the provision of PTs-HDM's automated classification outputs and associated thermal activation mapping guidance, we systematically assessed the enhancement in radiologists' diagnostic concordance and classification accuracy. A total of 712 patients were included. On the external test set, PTs-HDM achieved an AUC of 0.883, accuracy of 87.3% for PT vs. FA classification. Subgroup analysis showed high accuracy for tumors < 2 cm (90.9%). In hierarchical classification, the model obtained an AUC of 0.856 and accuracy of 80.9%. Radiologists' performance improved with PTs-HDM assistance, with binary classification accuracy increasing from 82.7%, 67.7%, and 64.2-87.6%, 76.6%, and 82.1% for senior, attending, and resident radiologists, respectively. Their hierarchical classification AUCs improved from 0.566 to 0.827 to 0.725-0.837. PTs-HDM also enhanced inter-radiologist consistency, increasing Kappa values from - 0.05 to 0.41 to 0.12 to 0.65, and the intraclass correlation coefficient from 0.19 to 0.45. PTs-HDM shows strong diagnostic performance, especially for small lesions, and improves radiologists' accuracy across all experience levels, bridging diagnostic gaps and providing reliable support for PTs' hierarchical diagnosis.