AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science最新文献

Monitoring cerebral neuronal activity via electroencephalography (EEG) during surgery can detect ischemia, a precursor to stroke. However, current neurophysiologist-based monitoring is prone to error. In this study, we evaluated machine learning (ML) for efficient and accurate ischemia detection. We trained supervised ML models on a dataset of 802 patients with intraoperative ischemia labels and evaluated them on an independent validation dataset of 30 patients with refined labels from five neurophysiologists. Our results show moderate-to-substantial agreement between neurophysiologists, with Cohen's kappa values between 0.59 and 0.74. Neurophysiologist performance ranged from 58-93% for sensitivity and 83-96% for specificity, while ML models demonstrated comparable ranges of 63-89% and 85-96%. Random Forest (RF), LightGBM (LGBM), and XGBoost RF achieved area under the receiver operating characteristic curve (AUROC) values of 0.92-0.93 and area under the precision-recall curve (AUPRC) values of 0.79-0.83. ML has the potential to improve intraoperative monitoring, enhancing patient safety and reducing costs.

Acronyms, abbreviations, and symbols play a significant role in clinical notes. Acronym and symbol sense disambiguation are crucial natural language processing (NLP) tasks that ensure the clarity and consistency of clinical notes and downstream NLP processing. Previous studies using traditional machine learning methods have been relatively successful in tackling this issue. In our research, we conducted an evaluation of large language models (LLMs), including ChatGPT 3.5 and 4, as well as other open LLMs, and BERT-based models, across three NLP tasks: acronym and symbol sense disambiguation, semantic similarity, and relatedness. Our findings emphasize ChatGPT's remarkable ability to distinguish between senses with minimal or zero-shot training. Additionally, open source LLM Mixtrial-8x7B exhibited high accuracy for acronyms with fewer senses, and moderate accuracy for symbol sense accuracy. BERT-based models outperformed previous machine learning approaches, achieving an impressive accuracy rate of over 95%, showcasing their effectiveness in addressing the challenge of acronym and symbol sense disambiguation. Furthermore, ChatGPT exhibited a strong correlation, surpassing 70%, with human gold standards when evaluating similarity and relatedness.

HL7 FHIR was created almost a decade ago and is seeing increasingly wide use in high income settings. Although some initial work was carried out in low and middle income (LMIC) settings there has been little impact until recently. The need for reliable and easy to implement interoperability between health information systems in LMICs is growing with large scale deployments of EHRs, national reporting systems and mHealth applications. The OpenMRS open source EHR has been deployed in more than 44 LMIC with increasing needs for interoperability with other HIS. We describe here the development and deployment of a new FHIR module supporting the latest standards and its use in interoperability with laboratory systems, mHealth applications, pharmacy dispensing system and as a tool for supporting advanced user interface designs. We also show how it facilitates date science projects and deployment of machine leaning based CDSS and precision medicine in LMICs.

Neurodegenerative processes are increasingly recognized as potential causative factors in Alzheimer's disease (AD) pathogenesis. While many studies have leveraged mediation analysis models to elucidate the underlying mechanisms linking genetic variants to AD diagnostic outcomes, the majority have predominantly focused on regional brain measure as a mediator, thereby compromising the granularity of the imaging data. In our investigation, using the imaging genetics data from a landmark AD cohort, we contrasted both region-based and voxel-based brain measurements as imaging endophenotypes, and examined their roles in mediating genetic effects on AD outcomes. Our findings underscored that using voxel-based morphometry offers enhanced statistical power. Moreover, we delineated specific mediation pathways between SNP, brain volume, and AD outcomes, shedding light on the intricate relationship among these variables.

Text and audio simplification to increase information comprehension are important in healthcare. With the introduction of ChatGPT, evaluation of its simplification performance is needed. We provide a systematic comparison of human and ChatGPT simplified texts using fourteen metrics indicative of text difficulty. We briefly introduce our online editor where these simplification tools, including ChatGPT, are available. We scored twelve corpora using our metrics: six text, one audio, and five ChatGPT simplified corpora (using five different prompts). We then compare these corpora with texts simplified and verified in a prior user study. Finally, a medical domain expert evaluated the user study texts and five, new ChatGPT simplified versions. We found that simple corpora show higher similarity with the human simplified texts. ChatGPT simplification moves metrics in the right direction. The medical domain expert's evaluation showed a preference for the ChatGPT style, but the text itself was rated lower for content retention.

Alzheimer's disease (AD) is the most prevalent neurodegenerative disease worldwide, with one in nine people over the age of 65 living with the disease in 2023. In this study, we used a phenome wide association study (PheWAS) approach to identify cross-phenotype between previously identified genetic associations for AD and electronic health record (EHR) diagnoses from the UK Biobank (UKBB) (n=361,194 of European ancestry) and the eMERGE Network (n=105,108 of diverse ancestry). Based on 497 previously identified AD-associated variants from the Alzheimer's Disease Variant Portal (ADVP), we found significant associations primarily in immune and cardiac related diseases in our PheWAS. Replicating variants have widespread impacts on immune genes in diverse tissue types. This study demonstrates the potential of using the PheWAS strategy to improve our understanding of AD progression as well as identify potential drug repurposing opportunities for new treatment and disease prevention strategies.

Clinical notes are full of ambiguous medical abbreviations. Contextual knowledge has been leveraged by recent learning-based approaches for sense disambiguation. Previous findings indicated that structural elements of clinical notes entail useful characteristics for informing different interpretations of abbreviations, yet they have remained underutilized and have not been fully investigated. To our best knowledge, the only study exploring note structures simply enumerated the headers in the notes, where such representations are not semantically meaningful. This paper describes a learning-based approach using the note structure represented by the semantic types predefined in Unified Medical Language System (UMLS). We evaluated the representation in addition to the widely used N-gram with three learning models on two different datasets. Experiments indicate that our feature augmentation consistently improved model performance for abbreviation disambiguation, with the optimal F1 score of 0.93.

Topic modeling performs poorly on short phrases or sentences and ever-changing slang, which are common in social media, such as X, formerly known as Twitter. This study investigates whether concept annotation tools such as MetaMap can enable topic modeling at the semantic level. Using tweets mentioning "hydroxychloroquine" for a case study, we extracted 56,017 posted between 03/01/2020-12/31/2021. The tweets were run through MetaMap to encode concepts with UMLS Concept Unique Identifiers (CUIs) and then we used Latent Dirichlet Allocation (LDA) to identify the optimal model for two datasets: 1) tweets with the original text and 2) tweets with the replaced CUIs. We found that the MetaMap LDA models outperformed the non-MetaMap models in terms of coherence and representativeness and identified topics timely relevant to social and political discussions. We concluded that integrating MetaMap to standardize tweets through UMLS concepts improved semantic topic modeling performance amidst noise in the text.

Large Language Models (LLMs) have demonstrated immense potential in artificial intelligence across various domains, including healthcare. However, their efficacy is hindered by the need for high-quality labeled data, which is often expensive and time-consuming to create, particularly in low-resource domains like healthcare. To address these challenges, we propose a crowdsourcing (CS) framework enriched with quality control measures at the pre-, real-time-, and post-data gathering stages. Our study evaluated the effectiveness of enhancing data quality through its impact on LLMs (Bio-BERT) for predicting autism-related symptoms. The results show that real-time quality control improves data quality by 19% compared to pre-quality control. Fine-tuning Bio-BERT using crowdsourced data generally increased recall compared to the Bio-BERT baseline but lowered precision. Our findings highlighted the potential of crowdsourcing and quality control in resource-constrained environments and offered insights into optimizing healthcare LLMs for informed decision-making and improved patient care.

This paper introduces an approach that combines the language reasoning capabilities of large language models (LLMs) with the benefits of local training to tackle complex language tasks. The authors demonstrate their approach by extracting structured condition codes from pathology reports. The proposed approach utilizes local, fine-tuned LLMs to respond to specific generative instructions and provide structured outputs. Over 150k uncurated surgical pathology reports containing gross descriptions, final diagnoses, and condition codes were used. Different model architectures were trained and evaluated, including LLaMA, BERT, and LongFormer. The results show that the LLaMA-based models significantly outperform BERT-style models across all evaluated metrics. LLaMA models performed especially well with large datasets, demonstrating their ability to handle complex, multi-label tasks. Overall, this work presents an effective approach for utilizing LLMs to perform structured generative tasks on domain-specific language in the medical domain.