Objective: Electronic health records (EHR) are widely available to complement administrative data-based disease surveillance and healthcare performance evaluation. Defining conditions from EHR is labour-intensive and requires extensive manual labelling of disease outcomes. This study developed an efficient strategy based on advanced large language models to identify multiple conditions from EHR clinical notes. Methods: We linked a cardiac registry cohort in 2015 with an EHR system in Alberta, Canada. We developed a pipeline that leveraged a generative large language model (LLM) to analyze, understand, and interpret EHR notes by prompts based on specific diagnosis, treatment management, and clinical guidelines. The pipeline was applied to detect acute myocardial infarction (AMI), diabetes, and hypertension. The performance was compared against clinician-validated diagnoses as the reference standard and widely adopted International Classification of Diseases (ICD) codes-based methods. Results: The study cohort accounted for 3,088 patients and 551,095 clinical notes. The prevalence was 55.4%, 27.7%, 65.9% and for AMI, diabetes, and hypertension, respectively. The performance of the LLM-based pipeline for detecting conditions varied: AMI had 88% sensitivity, 63% specificity, and 77% positive predictive value (PPV); diabetes had 91% sensitivity, 86% specificity, and 71% PPV; and hypertension had 94% sensitivity, 32% specificity, and 72% PPV. Compared with ICD codes, the LLM-based method demonstrated improved sensitivity and negative predictive value across all conditions. The monthly percentage trends from the detected cases by LLM and reference standard showed consistent patterns.

Extracting causal relationships from a medical case report is essential for comprehending the case, particularly its diagnostic process. Since the diagnostic process is regarded as a bottom-up inference, causal relationships in cases naturally form a multi-layered tree structure. The existing tasks, such as medical relation extraction, are insufficient for capturing the causal relationships of an entire case, as they treat all relations equally without considering the hierarchical structure inherent in the diagnostic process. Thus, we propose a novel task, Causal Tree Extraction (CTE), which receives a case report and generates a causal tree with the primary disease as the root, providing an intuitive understanding of a case's diagnostic process. Subsequently, we construct a Japanese case report CTE dataset, J-Casemap, propose a generation-based CTE method that outperforms the baseline by 20.2 points in the human evaluation, and introduce evaluation metrics that reflect clinician preferences. Further experiments also show that J-Casemap enhances the performance of solving other medical tasks, such as question answering.

Precise estimation of cardiac patients' current and future comorbidities is an important factor in prioritizing continuous physiological monitoring and new therapies. ML models have shown satisfactory performance in short-term mortality prediction of patients with heart disease, while their utility in long-term predictions is limited. This study aims to investigate the performance of tree-based ML models on long-term mortality prediction and the effect of two recently introduced biomarkers on long-term mortality. This study utilized publicly available data from CCHIA at the Ministry of Health and Welfare, Taiwan, China. Medical records were used to gather demographic and clinical data, including age, gender, BMI, percutaneous coronary intervention (PCI) status, and comorbidities such as hypertension, dyslipidemia, ST-segment elevation myocardial infarction (STEMI), and non-STEMI. Using medical and demographic records as well as two recently introduced biomarkers, brachial pre-ejection period (bPEP) and brachial ejection time (bET), collected from 139 patients with acute myocardial infarction, we investigated the performance of advanced ensemble tree-based ML algorithms (random forest, AdaBoost, and XGBoost) to predict all-cause mortality within 14 years. The developed ML models achieved significantly better performance compared to the baseline LR (C-Statistic, 0.80 for random forest, 0.79 for AdaBoost, and 0.78 for XGBoost, vs 0.77 for LR) (P-RF<0.001, PAdaBoost<0.001, PXGBoost<0.05). Adding bPEP and bET to our feature set significantly improved the algorithms' performance, leading to an absolute increase in C-Statistic of up to 0.03 (C-Statistic, 0.83 for random forest, 0.82 for AdaBoost, and 0.80 for XGBoost, vs 0.74 for LR) (P-RF<0.001, PAdaBoost<0.001, PXGBoost<0.05). This advancement may enable better treatment prioritization for high-risk individuals.

Machine learning of patient characteristics to predict admission outcomes in the undiagnosed diseases network: Researchers developed a machine learning algorithm to determine whether to accept patients to the Undiagnosed Diseases Network for extensive genome-scale evaluation. They found that the admission process could be accelerated by up to 68 percent using the algorithm, which would allow for more applications processed in a given time frame. Use of machine learning models to predict death after acute myocardial infarction: The research team developed machine learning methods to improve the prediction of in-hospital death after hospitalization for acute myocardial infarction. They found their models were not associated with significantly better prediction of risk of death after acute myocardial infarction, but they could improve the resolution of risk, which can better clarify individuals' risk for adverse outcomes. A survey of clinicians on the use of artificial intelligence in ophthalmology, dermatology, radiology and radiation oncology: A survey about personal use of clinical AI tools was conducted among fellows and trainees of three specialty colleges in Australia and New Zealand.

Aim: One of the aims of the Observation Health Data Sciences and Informatics (OHDSI) initiative is population-level treatment effect estimation in large observational databases. Since treatment effects are well-known to vary across groups of patients with different baseline risk, we aimed to extend the OHDSI methods library with a framework for risk-based assessment of treatment effect heterogeneity. Materials and Methods: The proposed framework consists of five steps: 1) definition of the problem, i.e. the population, the treatment, the comparator and the outcome(s) of interest; 2) identification of relevant databases; 3) development of a prediction model for the outcome(s) of interest; 4) estimation of propensity scores within strata of predicted risk and estimation of relative and absolute treatment effect within strata of predicted risk; 5) evaluation and presentation of results. Results: We demonstrate our framework by evaluating heterogeneity of the effect of angiotensin-converting enzyme (ACE) inhibitors versus beta blockers on a set of 9 outcomes of interest across three observational databases. With increasing risk of acute myocardial infarction we observed increasing absolute benefits, i.e. from -0.03% to 0.54% in the lowest to highest risk groups. Cough-related absolute harms decreased from 4.1% to 2.6%. Conclusions: The proposed framework may be useful for the evaluation of heterogeneity of treatment effect on observational data that are mapped to the OMOP Common Data Model. The proof of concept study demonstrates its feasibility in large observational data. Further insights may arise by application to safety and effectiveness questions across the global data network.

In current clinical practice, score-based mortality prediction systems, such as the series of the acute Predicting the risk of mortality for patients with acute physiology and chronic health evaluation (APACHE) scoring myocardial infarction (AMI) using electronic health records system, are widely used to help determine the treatment or (EHRs) data can help identify risky patients who might need medicine should be given to patients admitted into intensive more tailored care. In our previous work, we built care units (ICUs) [10]. Nevertheless, these scoring systems computational models to predict one-year mortality of patients have significant limitations, e.g., 1) they are often restricted to admitted to an intensive care unit (ICU) with AMI or post only few predictors; 2) they have poor generalizability and may myocardial infarction syndrome. Our prior work only used the be less precise when applied to specific subpopulations other structured clinical data from MIMIC-III, a publicly available than the original population used for the initial development; ICU clinical database. In this study, we enhanced our work by and 3) they need to be periodically recalibrated to reflect adding the word embedding features from free-text discharge changes in clinical practice and patient demographics [6].

Guidelines for the management of atherosclerotic cardiovascular disease (ASCVD) recommend the use of risk stratification models to identify patients most likely to benefit from cholesterol-lowering and other therapies. These models have differential performance across race and gender groups with inconsistent behavior across studies, potentially resulting in an inequitable distribution of beneficial therapy. In this work, we leverage adversarial learning and a large observational cohort extracted from electronic health records (EHRs) to develop a "fair" ASCVD risk prediction model with reduced variability in error rates across groups. We empirically demonstrate that our approach is capable of aligning the distribution of risk predictions conditioned on the outcome across several groups simultaneously for models built from high-dimensional EHR data. We also discuss the relevance of these results in the context of the empirical trade-off between fairness and model performance.

We describe our experience in the development of a probabilistic network for the diagnosis of acute cardiopulmonary diseases. A panel of expert physicians collaborated to specify the qualitative part, that is a directed acyclic graph defining a factorization of the joint probability distribution of domain variables. The quantitative part, that is the set of all conditional probability distributions defined by each factor, was estimated in the Bayesian paradigm: we applied a special formal representation, characterized by a low number of parameters and a parameterization intelligible for physicians, elicited the joint prior distribution of parameters from medical experts, and updated it by conditioning on a dataset of hospital patient records using Markov Chain Monte Carlo simulation. Refinement was cyclically performed until the probabilistic network provided satisfactory Concordance Index values for a selection of acute diseases and reasonable inference on six fictitious patient cases. The probabilistic network can be employed to perform medical diagnosis on a total of 63 diseases (38 acute and 25 chronic) on the basis of up to 167 patient findings.