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Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa decarboxylase gene. Deficiency of the AADC enzyme results in combined severe reductions in monoamine neurotransmitters: dopamine, serotonin, epinephrine, and norepinephrine. This leads to widespread neurological complications affecting motor, behavioral, and autonomic function. The goal of this study [...]

Distributed computations facilitate multi-institutional data analysis while avoiding the costs and complexity of data pooling. Existing approaches lack crucial features, such as built-in medical standards and terminologies, no-code data visualizations, explicit disclosure control mechanisms, and support for basic statistical computations, in addition to gradient-based optimization capabilities.

High-throughput phenotyping will accelerate the use of electronic health records (EHRs) for translational research. A critical roadblock is the extensive medical supervision required for phenotyping algorithm (PA) estimation and evaluation. To address this challenge, numerous weakly-supervised learning methods have been proposed. However, there is a paucity of methods for reliably evaluating the predictive performance of PAs when a very small proportion of the data is labeled. To fill this gap [...]

Research on how people interact with electronic health records (EHRs) increasingly involves the analysis of metadata on EHR use. These metadata can be recorded unobtrusively and capture EHR use at a scale unattainable through direct observation or self-reports. However, there is substantial variation in how metadata on EHR use are recorded, analyzed and described, limiting understanding, replication, and synthesis across studies.

Automated phenotyping algorithms can reduce development time and operator dependence compared to manually developed algorithms. One such approach, PheNorm, has performed well for identifying chronic health conditions, but its performance for acute conditions is largely unknown. Herein, we implement and evaluate PheNorm applied to symptomatic COVID-19 disease to investigate its potential feasibility for rapid phenotyping of acute health conditions.

This manuscript will be of interest to most Clinical and Translational Science Awards (CTSA) as they retool for the increasing emphasis on translational science from translational research. This effort is an extension of the EDW4R work that most CTSAs have done to deploy infrastructure and tools for researchers to access clinical data.

Inpatients with language barriers and complex medical needs suffer disparities in quality of care, safety, and health outcomes. Although in-person interpreters are particularly beneficial for these patients, they are underused. We plan to use machine learning predictive analytics to reliably identify patients with language barriers and complex medical needs to prioritize them for in-person interpreters.

To provide a scoping review of studies on empathy recognition in text using natural language processing (NLP) that can inform an approach to identifying physician empathic communication over patient portal messages.

Enhanced recovery pathways (ERPs) are evidence-based approaches to improving perioperative surgical care. However, the role of electronic health records (EHRs) in their implementation is unclear. We examine how EHRs facilitate or hinder ERP implementation.

Hospital costs continue to rise unsustainably. Up to 20% of care is wasteful including low value care (LVC). This study aimed to understand whether electronic medical record (EMR) alerts are effective at reducing pediatric LVC and measure the impact on hospital costs.