With the increasingly available electronic medical records (EMRs), disease prediction has recently gained immense research attention, where an accurate classifier needs to be trained to map the input prediction signals (e.g., symptoms, patient demographics, etc.) to the estimated diseases for each patient. However, existing machine learning-based solutions heavily rely on abundant manually labeled EMR training data to ensure satisfactory prediction results, impeding their performance in the existence of rare diseases that are subject to severe data scarcity. For each rare disease, the limited EMR data can hardly offer sufficient information for a model to correctly distinguish its identity from other diseases with similar clinical symptoms. Furthermore, most existing disease prediction approaches are based on the sequential EMRs collected for every patient and are unable to handle new patients without historical EMRs, reducing their real-life practicality. In this paper, we introduce an innovative model based on Graph Neural Networks (GNNs) for disease prediction, which utilizes external knowledge bases to augment the insufficient EMR data, and learns highly representative node embeddings for patients, diseases and symptoms from the medical concept graph and patient record graph respectively constructed from the medical knowledge base and EMRs. By aggregating information from directly connected neighbor nodes, the proposed neural graph encoder can effectively generate embeddings that capture knowledge from both data sources, and is able to inductively infer the embeddings for a new patient based on the symptoms reported in her/his EMRs to allow for accurate prediction on both general diseases and rare diseases. Extensive experiments on a real-world EMR dataset have demonstrated the state-of-the-art performance of our proposed model.
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http://dx.doi.org/10.1109/JBHI.2020.3004143 | DOI Listing |
Circ Genom Precis Med
January 2025
Mary and Steve Wen Cardiovascular Division, Department of Medicine, University of California, Los Angeles. (W.F., N.D.W.).
Background: Lp(a; Lipoprotein[a]) is a predictor of atherosclerotic cardiovascular disease (ASCVD); however, there are few algorithms incorporating Lp(a), especially from real-world settings. We developed an electronic health record (EHR)-based risk prediction algorithm including Lp(a).
Methods: Utilizing a large EHR database, we categorized Lp(a) cut points at 25, 50, and 75 mg/dL and constructed 10-year ASCVD risk prediction models incorporating Lp(a), with external validation in a pooled cohort of 4 US prospective studies.
Emerg Microbes Infect
January 2025
Key Laboratory of Jiangxi Province for Transfusion Medicine, Department of Blood Transfusion, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi 330006, China.
The tRNA-derived small RNAs (tsRNAs) are a new class of non coding RNAs, which are stable in body fluids and can be used as potential biomarkers for disease diagnosis. However, the exact value of tsRNAs in the diagnosis of tuberculosis (TB) is still unclear. The objective of the present study was to evaluate the performance of the serum tsRNAs biosignature to distinguish between active TB, healthy controls, latent TB infection, and other respiratory diseases.
View Article and Find Full Text PDFCirc Genom Precis Med
January 2025
Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston. (S.M.U., K.P., B.T., A.C.F., P.N.).
Background: Earlier identification of high coronary artery disease (CAD) risk individuals may enable more effective prevention strategies. However, existing 10-year risk frameworks are ineffective at earlier identification. We sought to understand how the variable importance of genomic and clinical factors across life stages may significantly improve lifelong CAD event prediction.
View Article and Find Full Text PDFAccurate survival prediction of patients with long-bone metastases is challenging, but important for optimizing treatment. The Skeletal Oncology Research Group (SORG) machine learning algorithm (MLA) has been previously developed and internally validated to predict 90-day and 1-year survival. External validation showed promise in the United States and Taiwan.
View Article and Find Full Text PDFFront Psychol
January 2025
Department of Behavioral Sciences, University of Medicine and Pharmacy of Craiova, Craiova, Romania.
Objectives: The main objectives were to investigate the prevalence of ED and associated risk factors among medical students in Romania, as well as to determine which variables may predict ED and to explore the differences between medical students and the general population.
Methods: The Eating Disorders Inventory questionnaire (EDI-3) was applied. Also, the body mass index of the students was calculated, socio-demographic information regarding personal and family medical history was collected (mental and chronic diseases, self-reported sleep difficulties in the past 6 months, family history of obesity) and potentially risky events (history of ridicule, major negative events, social pressure to be thin from family, friends, media).
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