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Subcellular localization of messenger RNA (mRNAs) plays a pivotal role in the regulation of gene expression, cell migration as well as in cellular adaptation. Experiment techniques for pinpointing the subcellular localization of mRNAs are laborious, time-consuming and expensive. Therefore, in silico approaches for this purpose are attaining great attention in the RNA community.
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Retinal Detachment (RD) is one of the major problems with retinal disorder patients. Till to date there existing no confirmatory sign or marker on retina for the early detection of RD. Therefore, patients may have sudden RD at any time of their life. Moreover, it is completely dependent upon the subjective judgement of ophthalmologist to make the final diagnostic decision on RD. To support the decision making process for the ophthalmologist, in this article we proposed RDNet, a SqueezeNet architecture based deep learning model for the early detection of RD. We used publicly available dataset of 1017 images covering rhegmatogenous RD and control group. The proposed model built on this image set achieved 97.55% sensitivity, 99.26% specificity and 98.23% accuracy in detecting RD. The proposed model outperformed the existing models for the same purpose with the highest area under the ROC curve (AUC) of 0.995. We believe our model will support the early detection of RD in clinical setup and assist the ophthalmologist in identifying RD at its early stage.
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Diabetes mellitus (DM) and osteoporosis/osteopenia affect millions of people globally and are major health conditions in several countries including Qatar. Bone mineral density (BMD) is a widely accepted indicator for diagnosing osteoporosis (OP) and osteopenia (OPN). The best method for determining bone mineral density and OP/OPN risk is via dual energy X-ray absorptiometry (DXA) technology. The risk of osteoporosis-related fracture may increase for people with diabetes. Therefore, it is necessary to develop a system that can support the early detection of OP/OPN in diabetic patients. In this study, we analyzed Qatar diabetic cohorts including 500 subjects, among which 68 were OP/OPN (target) subjects and 432 were without osteoporosis/osteopenia (control) subjects. The objective of this study is to develop an ML model to distinguish diabetic OP/OPN patients from diabetic non-OP/non-OPN subjects based on their bone health indicators from full body DXA scan measurements. Based on our experiments, AdaBoost model performed the best for classifying the target group from the control group. 10-fold cross validation-based results indicate that the proposed ML model was able to distinguish the target group from the control group at 80% sensitivity, 96% specificity. To the best of our knowledge, our study is the first ML-based approach to detect the early onset of OP/OPN in diabetic cohort from Qatar. Our analyses revealed the higher level of lean mass, fat mass and bone mass for the control group compared to the target group. Higher levels of BMC, BMD from different body parts in the control group compared to the osteoporosis/osteopenia group indicate the protective effects of obesity on bone health in the Qatari diabetic cohort. Moreover, higher value of anthropometric measurements in troch, lumbar spine (L1, L2, L3, L4), pelvis and other body parts in the control group indicates that the WHO guideline can be applied to the Qatari diabetic cohort for the early detection of OP/OPN based on the proposed ML model. Further research on OP/OPN in diabetic patients is warranted in future to confirm the role of DM on bone health.
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Epidermolysis bullosa acquisita (EBA) represents a big challenge as a rare skin disorder, with no established markers for early detection for patients. Moreover, as a rare disease, it is extremely difficult to acquire good number of patient sample to diagnose accurately with high confidence. EBA has many biomarkers very similar to other bullosa diseases and needs specific clinical expertise to detect it using immunofluorescence microscopy. In this study, we introduce a deep learningbased method, EBAnet, that leveraged Convolutional Neural Network (CNN) based model for the detection of EBA based on Direct immunofluorescence (DIF) microscopy image. The proposed EfficientNet-based model achieved 97.3% sensitivity, 96.1% precision, and 96.7% accuracy in distinguishing EBA from other class and outperformed the existing model for the same purpose. GradCAM based class activation map also highlighted the important region of the DIF images that was focused by the proposed model leveraging the explainability of the model. We believe, EBAnet will add value in the early and accurate detection of EBA, addressing a critical need in clinical practice.
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Lung Adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) are the two main histology subtypes of non-small cell lung cancer (NSCLC) with 70% of total Lung Cancer. In this article we proposed an ensemble-based model for the identification of subtypes of NSCLC using methylation data. Proposed Random Forest-based model along with out of bag (OOB) error based feature selection technique identified the top ten most important CpG sites that are highly differentiator between LUSC and LUAD subtypes of NSCLC with an accuracy, precision and F1 Score of \(97\%\) . The proposed model outperformed the other existing models for the same purpose with huge margin of 12%. Pathway analysis of the proposed 10 CpG sites revealed different pathways for LUAD and LUSC associated genes, LUAD-associated genes primarily participated in TP53, PTEN, GLP-1, Incretin regulation, and apoptosis. Conversely, LUSC-associated genes were predominantly involved in pathways for platelet degranulation, serine biosynthesis, and Nephrin family interaction.
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More than half a billion people worldwide are affected by diabetes, which is a prevalent non-communicable disease that can lead to critical health conditions, including vision loss. Diabetic Macular Edema (DME) is a primary cause of vision impairment and can eventually lead to blindness in diabetic patients. Early detection of DME and proper health management are crucial to controlling the disease. Retinal image-based AI-enabled diabetes diagnosis has gained significant attention as a non-invasive, fast, and reasonably accurate method for diagnosing DME. To make this technology accessible to underserved communities or areas lacking proper clinical facilities, a mobile application-based solution could have a significant impact. In this article, we describe how we transformed our previously published AI-enabled model into an Android-based mobile application, which is part of a two-phase research study. In the first phase, we developed a deep learning-based model that predicts DME grading using retinal images. In the second phase, we built a mobile application DMEgrader to make our model accessible via a mobile device. To the best of our knowledge, this is the first article to demonstrate necessary steps and code snippets to support developers in transforming deep learning models into Android based mobile applications for DME grading prediction. © 2023 IEEE.
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Diabetes, affecting more than 500 million individuals worldwide, is the most widespread non-communicable disease, globally. The early identification and effective management of diabetes are crucial for controlling its spread. Currently, the HbA1c test is the gold standard for the detection of diabetes with high confidence. But this is an invasive, expensive pathology test. Therefore, alternative non-invasive and inexpensive methods have been proposed in the literature for the early detection of diabetes.
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