Understanding the underlying etiologies of rare diseases may facilitate research across multiple conditions, enabling basket trail design and drug repurposing. In this study, we aligned clusters of rare diseases with Orphanet classifications to represent their shared etiologies and establish a foundation for further investigation on underly biological mechanism discovery. By utilizing the linearized Orphanet categories, we connected 35 clusters of rare diseases into 18 classifications. Significant associations were found between the categories "Rare Developmental Defects During Embryogenesis" and "Rare Inborn Errors of Metabolism" and the clusters in this study, suggesting that many rare diseases originating in the prenatal period or related to metabolism may present a substantial opportunity for success in future investigation.

Understanding the common or different characteristics of sublanguages in clinical documents through corpus analysis is essential for downstream applications of clinical natural language processing (NLP). Here, we conducted a sublanguage analysis of a corpus consisting of 500,000 clinical documents concerning clinical sections. We analyzed sublanguage characteristics per practice setting or document type for the top ten most frequent clinical sections. The named entity (NE) for the problem, test, and treatment concepts was extracted using fine-tuned bio-clinical Bidirectional Encoder Representations from Transformers (BERT). Fast-clustering using sentence-BERT was applied, and clustering results, a case study of terms containing “pain,” were visualized using SandDance. Our results confirmed that document types with a narrow scope (i.e., limited evaluation) presented high term frequencies in diverse disjoint clusters than document types with a broad scope (i.e., Discharge Summary). Family Medicine and Primary Care practice settings presented similar cluster distributions (i.e., the frequent use of similar co-occurring words with “pain”), implying the similar sublanguage. In contrast, Emergency Medicine showed a distinct sublanguage with high term frequencies in disjoint clusters than other practices. Those findings suggest that analyzing term distribution with respect to different combinations of the section, practicing setting, and document type provide important information when developing or implementing NLP systems.

Clinical assessment variation (CAV) has a profound impact on patient outcomes, and appropriate tooling is critically needed to help understand and guide necessary interventions. In this study, we propose an intuitive approach to visualizing CAV and summarizing the contexts pertinent to decision-making. By superimposing the response variable and clusters learned according to the explanatory variables, a color-coded 2D scatter plot can be rendered to show the spatial proximity and semantic composition of the clusters. Without loss of generality, an example application on preoperative patient assessment demonstrated the approach can assist in auditing inconsistent human decisions and informing the reconciliation process. The methods will also benefit refining of clinical assessment guidelines by systematically eliciting practice-based knowledge.

BACKGROUND: With the rapid adoption of electronic health records (EHRs), it is desirable to harvest information and knowledge from EHRs to support automated systems at the point of care and to enable secondary use of EHRs for clinical and translational research. One critical component used to facilitate the secondary use of EHR data is the information extraction (IE) task, which automatically extracts and encodes clinical information from text. OBJECTIVES: In this literature review, we present a review of recent published research on clinical information extraction (IE) applications. METHODS: A literature search was conducted for articles published from January 2009 to September 2016 based on Ovid MEDLINE In-Process & Other Non-Indexed Citations, Ovid MEDLINE, Ovid EMBASE, Scopus, Web of Science, and ACM Digital Library. RESULTS: A total of 1917 publications were identified for title and abstract screening. Of these publications, 263 articles were selected and discussed in this review in terms of publication venues and data sources, clinical IE tools, methods, and applications in the areas of disease- and drug-related studies, and clinical workflow optimizations. CONCLUSIONS: Clinical IE has been used for a wide range of applications, however, there is a considerable gap between clinical studies using EHR data and studies using clinical IE. This study enabled us to gain a more concrete understanding of the gap and to provide potential solutions to bridge this gap.

One of the promises of “meaningful use” of Electronic Health Records (EHRs) is to facilitate digital information exchange between healthcare providers through continuity of care documents. Despite such promise, outside medical records (OMRs) of referral patients including clinical notes, lab test results or diagnostic test reports are frequently provided through fax or print out. Moreover, it is not clear how much information in those OMRs is utilized when providing care at the early stage. In this study, we collected clinical concepts automatically from OMRs through optical character recognition (OCR) technology and then performed a quantitative analysis of concepts presented in OMRs and concepts captured in clinical notes at Mayo Clinic. We also investigated information from OMRs not captured in initial consultant notes but presented over subsequent consultant notes. We identified 12.93% of concepts from OMRs were identified in clinical documents within three months. Among those overlapping concepts, 26.74% of them were not captured in initial consultant notes. Our study presents that clinical information from OMRs is important for patient care. Also, the delayed presence of information in clinical notes may indicate important information from OMRs is not fully utilized earlier in the care.

OBJECTIVE: To create a sense inventory of abbreviations and acronyms from clinical texts. METHODS: The most frequently occurring abbreviations and acronyms from 352,267 dictated clinical notes were used to create a clinical sense inventory. Senses of each abbreviation and acronym were manually annotated from 500 random instances and lexically matched with long forms within the Unified Medical Language System (UMLS V.2011AB), Another Database of Abbreviations in Medline (ADAM), and Stedman's Dictionary, Medical Abbreviations, Acronyms & Symbols, 4th edition (Stedman's). Redundant long forms were merged after they were lexically normalized using Lexical Variant Generation (LVG). RESULTS: The clinical sense inventory was found to have skewed sense distributions, practice-specific senses, and incorrect uses. Of 440 abbreviations and acronyms analyzed in this study, 949 long forms were identified in clinical notes. This set was mapped to 17,359, 5233, and 4879 long forms in UMLS, ADAM, and Stedman's, respectively. After merging long forms, only 2.3% matched across all medical resources. The UMLS, ADAM, and Stedman's covered 5.7%, 8.4%, and 11% of the merged clinical long forms, respectively. The sense inventory of clinical abbreviations and acronyms and anonymized datasets generated from this study are available for public use at http://www.bmhi.umn.edu/ihi/research/nlpie/resources/index.htm ('Sense Inventories', website). CONCLUSIONS: Clinical sense inventories of abbreviations and acronyms created using clinical notes and medical dictionary resources demonstrate challenges with term coverage and resource integration. Further work is needed to help with standardizing abbreviations and acronyms in clinical care and biomedicine to facilitate automated processes such as text-mining and information extraction.