Search for: All records

Analysis of 3D medical imaging data has been a large topic of focus in the area of Machine Learning/Artificial Intelligence, though little work has been done in algorithmic (particularly unsupervised) analysis of neonatal brain MRI’s. A myriad of conditions can manifest at an early age, including neonatal encephalopathy (NE), which can result in lifelong physical consequences. As such, there is a dire need for better biomarkers of NE and other conditions. The objective of the study is to improve identification of anomalies and prognostication of neonatal MRI brain scans. We introduce a framework designed to support the analysis and assessment of neonatal MRI brain scans, the results of which can be used as an aid to neuroradiologists. We explored the efficacy of the framework through iterations of several deep convolutional Autoencoder (AE) unsupervised modeling architectures designed to learn normalcy of the neonatal brain structure. We tested this framework on the developing human connectome project (dHCP) dataset with 97 patients that were previously categorized by severity. Our framework demonstrated the model’s ability to identify and distinguish subtle morphological signatures present in brain structures. Normal and abnormal neonatal brain scans can be distinguished with reasonable accuracy, correctly categorizing them in up to 83% of cases. Most critically, new brain anomalies originally missed during the radiological reading were identified and corroborated by a neuroradiologist. This framework and our modeling approach demonstrate an ability to improve prognostication of neonatal brain conditions and are able to localize new anomalies.

 

Objective: The rapid advancement of high-throughput technologies in the biomedical field has resulted in the accumulation of diverse omics data types, such as mRNA expression, DNA methylation, and microRNA expression, for studying various diseases. Integrating these multi-omics datasets enables a comprehensive understanding of the molecular basis of cancer and facilitates accurate prediction of disease progression. Methods: However, conventional approaches face challenges due to the dimensionality curse problem. This paper introduces a novel framework called Knowledge Distillation and Supervised Variational AutoEncoders utilizing View Correlation Discovery Network (KD-SVAE-VCDN) to address the integration of high-dimensional multi-omics data with limited common samples. Through our experimental evaluation, we demonstrate that the proposed KD-SVAE-VCDN architecture accurately predicts the progression of breast and kidney carcinoma by effectively classifying patients as long- or short-term survivors. Furthermore, our approach outperforms other state-of-the-art multi-omics integration models. Results: Our findings highlight the efficacy of the KD-SVAE-VCDN architecture in predicting the disease progression of breast and kidney carcinoma. By enabling the classification of patients based on survival outcomes, our model contributes to personalized and targeted treatments. The favorable performance of our approach in comparison to several existing models suggests its potential to contribute to the advancement of cancer understanding and management. Conclusion: The development of a robust predictive model capable of accurately forecasting disease progression at the time of diagnosis holds immense promise for advancing personalized medicine. By leveraging multi-omics data integration, our proposed KD-SVAE-VCDN framework offers an effective solution to this challenge, paving the way for more precise and tailored treatment strategies for patients with different types of cancer. 

Prostate cancer (PCa) represents the second most frequently diagnosed malignancy among males in the United States and ranks fourth in terms of general cancer prevalence on a global scale. A critical assessment of existing literature indicates a notable deficiency in the identification of biomarkers that are uniquely associated with aggressive forms of PCa. The principal objective of this paper is to discover biomarkers at the genetic variant level by deploying statistical methodologies to determine associations between such variants and the aggressive and lethal form of the disease. Employing the multiple comparisons technique, we identified four variants that were statistically significant at the 5 % significance level. Furthermore, we utilized Over-representation analysis (ORA) to identify the biological pathways linked with these genetic variants. To validate our findings, we employed a decision tree algorithm on an independent dataset comparing the proposed biomarkers with random subsets of variants. Results have shown that the predictive accuracy of aggressive samples was 97 % for the proposed biomarkers, while this figure dropped to 67 % when randomly selected variants were considered. 

Similar molecular and genetic aberrations among diseases can lead to the discovery of jointly important treatment options across biologically similar diseases. Oncologists closely looked at several hormone-dependent cancers and identified remarkable pathological and molecular similarities in their DNA repair pathway abnormalities. Although deficiencies in Homologous Recombination (HR) pathway plays a significant role towards cancer progression, there could be other DNA-repair pathway deficiencies that requires careful investigation. In this paper, through a biomarker-driven drug repurposing model, we identified several potential drug candidates for breast and prostate cancer patients with DNA-repair deficiencies based on common specific biomarkers and irrespective of the organ the tumors originated from. Normalized discounted cumulative gain (NDCG) and sensitivity analysis were used to assess the performance of the drug repurposing model. Our results showed that Mitoxantrone and Genistein were among drugs with high therapeutic effects that significantly reverted the gene expression changes caused by the disease (FDR adjusted p-values for prostate cancer =1.225e-4 and 8.195e-8, respectively) for patients with deficiencies in their homologous recombination (HR) pathways. The proposed multi-cancer treatment framework, suitable for patients whose cancers had common specific biomarkers, has the potential to identify promising drug candidates by enriching the study population through the integration of multiple cancers and targeting patients who respond poorly to organ-specific treatments.

 

Recent supervised point cloud upsampling methods are re-stricted by the size of training data and are limited in terms of covering all object shapes. Besides the challenges faced due to data acquisition, the networks also struggle to gener-alize on unseen records. In this paper, we present an internal point cloud upsampling approach at a holistic level referred to as “Zero-Shot” Point Cloud Upsampling (ZSPU). Our approach is data agnostic and relies solely on the internal infor-mation provided by a particular point cloud without patching in both self-training and testing phases. This single-stream design significantly reduces the training time by learning the relation between low resolution (LR) point clouds and their high (original) resolution (HR) counterparts. This association will then provide super resolution (SR) outputs when origi-nal point clouds are loaded as input. ZSPU achieves com-petitive/superior quantitative and qualitative performances on benchmark datasets when compared with other upsampling methods. 

Studies over the past decade have generated a wealth of molecular data that can be leveraged to better understand cancer risk, progression, and outcomes. However, understanding the progression risk and differentiating long- and short-term survivors cannot be achieved by analyzing data from a single modality due to the heterogeneity of disease. Using a scientifically developed and tested deep-learning approach that leverages aggregate information collected from multiple repositories with multiple modalities (e.g., mRNA, DNA Methylation, miRNA) could lead to a more accurate and robust prediction of disease progression. Here, we propose an autoencoder based multimodal data fusion system, in which a fusion encoder flexibly integrates collective information available through multiple studies with partially coupled data. Our results on a fully controlled simulation-based study have shown that inferring the missing data through the proposed data fusion pipeline allows a predictor that is superior to other baseline predictors with missing modalities. Results have further shown that short- and long-term survivors of glioblastoma multiforme, acute myeloid leukemia, and pancreatic adenocarcinoma can be successfully differentiated with an AUC of 0.94, 0.75, and 0.96, respectively.