Methods of Information in Medicine最新文献

Cancer registries collect extensive data on cancer patients, including diagnoses, treatments, and disease progression. These data offer valuable insights into cancer care, but it is challenging to analyze due to its complexity. Machine learning techniques, particularly clustering, enable the exploration of treatment data to uncover previously unknown patterns and relationships.This work aimed to develop a method for clustering breast cancer patients in cancer registries based on their treatment courses, to demonstrate the usefulness of clustering for gaining insights, improving data quality, and identifying clinically relevant patterns.We developed a similarity measure adapted from the Levenshtein distance to compare treatment courses, incorporating cancer diagnosis, surgeries, radiotherapies, and systemic therapies. The method was evaluated on 17,822 breast cancer cases diagnosed in 2019 from the cancer registry of North Rhine-Westphalia. Evaluation involved two stages: first, domain experts reviewed the clustering results to assess clinical relevance and interpretability. Second, an intercluster survival analysis was performed to identify clinically relevant differences between treatment patterns.Expert evaluations confirmed that clustering produced clinically plausible groups while also uncovering unexpected treatment patterns and potential data inconsistencies. The survival analysis showed differences in survival between clusters in both prognostically favorable and unfavorable subgroups. These results demonstrate that treatment-course clustering can identify patient groups with differing survival outcomes. However, registry data incompleteness and unmeasured confounders may influence these findings.Clustering treatment courses in cancer registries can reveal data quality issues, distinguish groups with different prognostic profiles, and support exploratory analyses of treatment patterns. While these findings are not intended to guide clinical decision making or evaluate treatment effectiveness, they can help generate hypotheses, identify unexpected care pathways, and support quality monitoring within cancer registries. Future work should focus on improving treatment data completeness, incorporating additional clinical variables, and refining clustering methods for broader applicability.

Existing drug recommendation systems lack integration with up-to-date clinical guidelines (the latest diabetes association standards of care and clinical guidelines that align with local government health care regulations) and lack high-precision drug interaction processing, explainability, and dynamic dosage adjustment. As a result, the recommendations generated by these systems are often inaccurate and do not align with local standards, greatly limiting their practicality.To develop a personalized drug recommendation and dosage optimization system named Diabetes Drug Recommendation System (DDRs), integrating Fast Healthcare Interoperability Resources-standardized electronic health record (EHR) data and up-to-date clinical guidelines for accurate and practical recommendations.We analyzed patients' EHR and International Classification of Diseases-tenth edition codes and integrated them with a drug interaction database to reduce adverse reactions. ADA guidelines and Taiwan's National Health Insurance (NHI) chronic disease guidelines served as data sources. Bio-GPT and Retrieval-Augmented Generation (RAG) were used to build the clinical guideline database and ensure recommendations align with the latest standards, with references provided for interpretability. Finally, optimal dosage was dynamically calculated by integrating patient disease progression trends from the EHR.DDRs achieved superior drug recommendation accuracy (Precision-Recall Area Under the Curve = 0.7951, Jaccard = 0.5632, F1-score = 0.7158), with a low drug-drug interaction rate (4.73%) and dosage error (±6.21%). Faithfulness of recommendations reached 0.850. Field validation with three physicians showed that the system reduced literature review time by 30 to 40% and delivered clinically actionable recommendations.DDRs is the first system to integrate EHR data, LLMs, RAG, ADA guidelines, and Taiwan NHI policies for diabetes treatment. The system demonstrates high accuracy, safety, and interpretability, offering practical decision support in routine clinical settings.

Background:  Textual datasets (corpora) are crucial for the application of natural language processing (NLP) models. However, corpus creation in the medical field is challenging, primarily because of privacy issues with raw clinical data such as health records. Thus, the existing clinical corpora are generally small and scarce. Medical NLP (MedNLP) methodologies perform well with limited data availability.

Objectives:  We present the outcomes of the Real-MedNLP workshop, which was conducted using limited and parallel medical corpora. Real-MedNLP exhibits three distinct characteristics: (1) limited annotated documents: the training data comprise only a small set (∼100) of case reports (CRs) and radiology reports (RRs) that have been annotated. (2) Bilingually parallel: the constructed corpora are parallel in Japanese and English. (3) Practical tasks: the workshop addresses fundamental tasks, such as named entity recognition (NER) and applied practical tasks.

Methods:  We propose three tasks: NER of ∼100 available documents (Task 1), NER based only on annotation guidelines for humans (Task 2), and clinical applications (Task 3) consisting of adverse drug effect (ADE) detection for CRs and identical case identification (CI) for RRs.

Results:  Nine teams participated in this study. The best systems achieved 0.65 and 0.89 F1-scores for CRs and RRs in Task 1, whereas the top scores in Task 2 decreased by 50 to 70%. In Task 3, ADE reports were detected by up to 0.64 F1-score, and CI scored up to 0.96 binary accuracy.

Conclusion:  Most systems adopt medical-domain-specific pretrained language models using data augmentation methods. Despite the challenge of limited corpus size in Tasks 1 and 2, recent approaches are promising because the partial match scores reached ∼0.8-0.9 F1-scores. Task 3 applications revealed that the different availabilities of external language resources affected the performance per language.

Objective:  This is the first Malaysian machine learning model to detect and disambiguate abbreviations in clinical notes. The model has been designed to be incorporated into MyHarmony, a natural language processing system, that extracts clinical information for health care management. The model utilizes word embedding to ensure feasibility of use, not in real-time but for secondary analysis, within the constraints of low-resource settings.

Methods:  A Malaysian clinical embedding, based on Word2Vec model, was developed using 29,895 electronic discharge summaries. The embedding was compared against conventional rule-based and FastText embedding on two tasks: abbreviation detection and abbreviation disambiguation. Machine learning classifiers were applied to assess performance.

Results:  The Malaysian clinical word embedding contained 7 million word tokens, 24,352 unique vocabularies, and 100 dimensions. For abbreviation detection, the Decision Tree classifier augmented with the Malaysian clinical embedding showed the best performance (F-score of 0.9519). For abbreviation disambiguation, the classifier with the Malaysian clinical embedding had the best performance for most of the abbreviations (F-score of 0.9903).

Conclusion:  Despite having a smaller vocabulary and dimension, our local clinical word embedding performed better than the larger nonclinical FastText embedding. Word embedding with simple machine learning algorithms can decipher abbreviations well. It also requires lower computational resources and is suitable for implementation in low-resource settings such as Malaysia. The integration of this model into MyHarmony will improve recognition of clinical terms, thus improving the information generated for monitoring Malaysian health care services and policymaking.

Syndrome is a unique and crucial concept in traditional Chinese medicine (TCM). However, much of the syndrome knowledge lacks systematic organization and correlation, and current information technologies are unsuitable for TCM ancient texts.We aimed to develop a knowledge graph that presents this knowledge in a more orderly, structured, and semantically oriented manner, providing a foundation for computer-aided diagnosis and treatment.We developed a construction framework of TCM syndrome knowledge from ancient books, using a pretrained model and rules (TCMSF). We conducted fine-tuning training on Enhanced Representation through Knowledge Integration (ERNIE), Bidirectional Encoder Representation from Transformers pretrained language models, and chatGLM3-6b large language models for named entity recognition (NER) tasks. Furthermore, we employed the progressive entity relationship extraction method based on the dual pattern feature combination to extract and standardize entities and relationships between entities in these books.We selected Yin deficiency syndrome as a case study and constructed a model layer suitable for the expression of knowledge in these books. Compared with multiple NER methods, the combination of ERNIE and Conditional Random Fields performs the best. By utilizing this combination, we completed the entity extraction of Yin deficiency syndrome, achieving an average F1 value of 0.77. The relationship extraction method we proposed reduces the number of incorrectly connected relationships compared with fully connected pattern layers. We successfully constructed a knowledge graph of ancient books on Yin deficiency syndrome, including over 120,000 entities and over 1.18 million relationships.We developed TCMSF in line with the knowledge characteristics of ancient TCM books and improved the accuracy of knowledge graph construction.

Symptom phenotypes are crucial for diagnosing and treating various disease conditions. However, the diversity of symptom terminologies poses a significant challenge to analyzing and sharing of symptom-related medical data, particularly in the field of traditional Chinese medicine (TCM). This study aims to construct an Integrated Symptom Phenotype Ontology (ISPO) to support data mining of Chinese electronic medical records (EMRs) and real-world studies in the TCM field.We manually annotated and extracted symptom terms from 21 classical TCM textbooks and 78,696 inpatient EMRs, and integrated them with five publicly available symptom-related biomedical vocabularies. Through a human-machine collaborative approach for terminology editing and ontology development, including term screening, semantic mapping, and concept classification, we constructed a high-quality symptom ontology that integrates both TCM and Western medical terminology.ISPO provides 3,147 concepts, 23,475 terms, and 23,363 hierarchical relationships. Compared with international symptom-related ontologies such as the Symptom Ontology, ISPO offers significant improvements in the number of terms and synonymous relationships. Furthermore, evaluation across three independent curated clinical datasets demonstrated that ISPO achieved over 90% coverage of symptom terms, highlighting its strong clinical usability and completeness.ISPO represents the first clinical ontology globally dedicated to the systematic representation of symptoms. It integrates symptom terminologies from historical and contemporary sources, encompassing both TCM and Western medicine, thereby enhancing semantic interoperability across heterogeneous medical data sources and clinical decision support systems in TCM.

Assessing treatment response in patients with myeloproliferative neoplasms is difficult because data components exist in unstructured bone marrow pathology (hematopathology) reports, which require specialized, manual annotation, and interpretation. Although natural language processing (NLP) has been successfully implemented for the extraction of features from solid tumor reports, little is known about its application to hematopathology.An open-source NLP framework called Leo was implemented to parse document segments and extract concept phrases utilized for assessing responses in myeloproliferative neoplasms. A reference standard was generated through the manual review of hematopathology notes.Compared with a reference standard (n = 300 reports), our NLP method extracted features such as aspirate myeloblasts (F1 = 98%) and biopsy reticulin fibrosis (F1 = 93%) with high accuracy. However, other values, such as myeloblasts from the biopsy (F1 = 6%) and via flow cytometry (F1 = 8%), were affected by sparsity representative of reporting conventions. The four features with the highest clinical importance were extracted with F1 scores exceeding 90%. Whereas manual annotation of 300 reports required 30 hours of staff effort, automated NLP required 3.5 hours of runtime for 34,301 reports.To the best of our knowledge, this is among the first studies to demonstrate the application of NLP to hematopathology for clinical feature extraction. The approach may inform efforts at other institutions, and the code is available at https://github.com/wcmc-research-informatics/BmrExtractor.

Background:  Fibrotic lung disease is a progressive illness that causes scarring and ultimately respiratory failure, with irreversible damage by the time it is diagnosed on computed tomography imaging. Recent research postulates the role of the lung vasculature on the pathogenesis of the disease. With the recent development of high-resolution hierarchical phase-contrast tomography (HiP-CT), we have the potential to understand and detect changes in the lungs long before conventional imaging. However, to gain quantitative insight into vascular changes you first need to be able to segment the vessels before further downstream analysis can be conducted. Aside from this, HiP-CT generates large-volume, high-resolution data which is time-consuming and expensive to label.

Objectives:  This project aims to qualitatively assess the latest machine learning methods for vessel segmentation in HiP-CT data to enable label propagation as the first step for imaging biomarker discovery, with the goal to identify early-stage interstitial lung disease amenable to treatment, before fibrosis begins.

Methods:  Semisupervised learning (SSL) has become a growing method to tackle sparsely labeled datasets due to its leveraging of unlabeled data. In this study, we will compare two SSL methods; Seg PL, based on pseudo-labeling, and MisMatch, using consistency regularization against state-of-the-art supervised learning method, nnU-Net, on vessel segmentation in sparsely labeled lung HiP-CT data.

Results:  On initial experimentation, both MisMatch and SegPL showed promising performance on qualitative review. In comparison with supervised learning, both MisMatch and SegPL showed better out-of-distribution performance within the same sample (different vessel morphology and texture vessels), though supervised learning provided more consistent segmentations for well-represented labels in the limited annotations.

Conclusion:  Further quantitative research is required to better assess the generalizability of these findings, though they show promising first steps toward leveraging this novel data to tackle fibrotic lung disease.