Differential Diagnosis of DCIS and Fibroadenoma Based on Ultrasound Images: a Difference-Based Self-Supervised Approach.

Differentiation of ductal carcinoma in situ (DCIS, a precancerous lesion of the breast) from fibroadenoma (FA) using ultrasonography is significant for the early prevention of malignant breast tumors. Radiomics-based artificial intelligence (AI) can provide additional diagnostic information but usually requires extensive labeling efforts by clinicians with specialized knowledge. This study aims to investigate the feasibility of differentially diagnosing DCIS and FA using ultrasound radiomics-based AI techniques and further explore a novel approach that can reduce labeling efforts without sacrificing diagnostic performance. We included 461 DCIS and 651 FA patients, of whom 139 DCIS and 181 FA patients constituted a prospective test cohort. First, various feature engineering-based machine learning (FEML) and deep learning (DL) approaches were developed. Then, we designed a difference-based self-supervised (DSS) learning approach that only required FA samples to participate in training. The DSS approach consists of three steps: (1) pretraining a Bootstrap Your Own Latent (BYOL) model using FA images, (2) reconstructing images using the encoder and decoder of the pretrained model, and (3) distinguishing DCIS from FA based on the differences between the original and reconstructed images. The experimental results showed that the trained FEML and DL models achieved the highest AUC of 0.7935 (95% confidence interval, 0.7900-0.7969) on the prospective test cohort, indicating that the developed models are effective for assisting in differentiating DCIS from FA based on ultrasound images. Furthermore, the DSS model achieved an AUC of 0.8172 (95% confidence interval, 0.8124-0.8219), indicating that our model outperforms the conventional radiomics-based AI models and is more competitive.

SMMDA: Predicting miRNA-Disease Associations by Incorporating Multiple Similarity Profiles and a Novel Disease Representation.

Increasing evidence has suggested that microRNAs (miRNAs) are significant in research on human diseases. Predicting possible associations between miRNAs and diseases would provide new perspectives on disease diagnosis, pathogenesis, and gene therapy. However, considering the intrinsic time-consuming and expensive cost of traditional Vitro studies, there is an urgent need for a computational approach that would allow researchers to identify potential associations between miRNAs and diseases for further research. In this paper, we presented a novel computational method called SMMDA to predict potential miRNA-disease associations. In particular, SMMDA first utilized a new disease representation method (MeSHHeading2vec) based on the network embedding algorithm and then fused it with Gaussian interaction profile kernel similarity information of miRNAs and diseases, disease semantic similarity, and miRNA functional similarity. Secondly, SMMDA utilized a deep auto-coder network to transform the original features further to achieve a better feature representation. Finally, the ensemble learning model, XGBoost, was used as the underlying training and prediction method for SMMDA. In the results, SMMDA acquired a mean accuracy of 86.68% with a standard deviation of 0.42% and a mean AUC of 94.07% with a standard deviation of 0.23%, outperforming many previous works. Moreover, we also compared the predictive ability of SMMDA with different classifiers and different feature descriptors. In the case studies of three common Human diseases, the top 50 candidate miRNAs have 47 (esophageal neoplasms), 48 (breast neoplasms), and 48 (colon neoplasms) are successfully verified by two other databases. The experimental results proved that SMMDA has a reliable prediction ability in predicting potential miRNA-disease associations. Therefore, it is anticipated that SMMDA could be an effective tool for biomedical researchers.

Constructing a molecular interaction network for thyroid cancer via large-scale text mining of gene and pathway events.

BACKGROUND: Biomedical studies need assistance from automated tools and easily accessible data to address the problem of the rapidly accumulating literature. Text-mining tools and curated databases have been developed to address such needs and they can be applied to improve the understanding of molecular pathogenesis of complex diseases like thyroid cancer. RESULTS: We have developed a system, PWTEES, which extracts pathway interactions from the literature utilizing an existing event extraction tool (TEES) and pathway named entity recognition (PathNER). We then applied the system on a thyroid cancer corpus and systematically extracted molecular interactions involving either genes or pathways. With the extracted information, we constructed a molecular interaction network taking genes and pathways as nodes. Using curated pathway information and network topological analyses, we highlight key genes and pathways involved in thyroid carcinogenesis. CONCLUSIONS: Mining events involving genes and pathways from the literature and integrating curated pathway knowledge can help improve the understanding of molecular interactions of complex diseases. The system developed for this study can be applied in studies other than thyroid cancer. The source code is freely available online at https://github.com/chengkun-wu/PWTEES.