Evaluation of the vitamin D response index in a Saudi cohort.

The concept of the vitamin D response index was developed based on vitamin D intervention studies conducted with Finnish cohorts. In this study, we challenged the concept by performing a single vitamin D3 bolus (80,000 IU) intervention with a cohort of 100 native Saudis. The change of serum levels of the proinflammatory cytokines interleukin 6, interleukin 8 and tumor necrosis factor measured directly before intervention in comparison to samples taken one and thirty days after vitamin D3 supplementation were used as biomarkers for distinguishing low, mid and high responders. Interestingly, we identified 39 % of the study participants as low responders. In contrast, when we used in a subset of 37 study participants whole blood expression changes of seven well-known vitamin D target genes one and thirty days after supplementation as alternative biomarkers, only 9 persons (24 %) were identified as low responders. In conclusion, in Saudi Arabia the rate of low vitamin D responders is equal or even higher than that in Finland. Therefore, similar to Nordic countries also in Saudi Arabia appropriate vitamin D3 supplementation is essential, in order to fulfill the needs of low responders.

Search like an expert: Reducing expertise disparity using a hybrid neural index for COVID-19 queries.

Consumers from non-medical backgrounds often look for information regarding a specific medical information need; however, they are limited by their lack of medical knowledge and may not be able to find reputable resources. As a case study, we investigate reducing this knowledge barrier to allow consumers to achieve search effectiveness comparable to that of an expert, or a medical professional, for COVID-19 related questions. We introduce and evaluate a hybrid index model that allows a consumer to formulate queries using consumer language to find relevant answers to COVID-19 questions. Our aim is to reduce performance degradation between medical professional queries and those of a consumer. We use a universal sentence embedding model to project consumer queries into the same semantic space as professional queries. We then incorporate sentence embeddings into a search framework alongside an inverted index. Documents from this index are retrieved using a novel scoring function that considers sentence embeddings and BM25 scoring. We find that our framework alleviates the expertise disparity, which we validate using an additional set of crowdsourced-consumer-queries even in an unsupervised setting. We also propose an extension of our method, where the sentence encoder is optimised in a supervised setup. Our framework allows for a consumer to search using consumer queries to match the search performance with that of a professional.

Correction: Extracting Family History Information From Electronic Health Records: Natural Language Processing Analysis.

[This corrects the article DOI: 10.2196/24020.].

Extracting Family History Information From Electronic Health Records: Natural Language Processing Analysis.

BACKGROUND: The prognosis, diagnosis, and treatment of many genetic disorders and familial diseases significantly improve if the family history (FH) of a patient is known. Such information is often written in the free text of clinical notes. OBJECTIVE: The aim of this study is to develop automated methods that enable access to FH data through natural language processing. METHODS: We performed information extraction by using transformers to extract disease mentions from notes. We also experimented with rule-based methods for extracting family member (FM) information from text and coreference resolution techniques. We evaluated different transfer learning strategies to improve the annotation of diseases. We provided a thorough error analysis of the contributing factors that affect such information extraction systems. RESULTS: Our experiments showed that the combination of domain-adaptive pretraining and intermediate-task pretraining achieved an F1 score of 81.63% for the extraction of diseases and FMs from notes when it was tested on a public shared task data set from the National Natural Language Processing Clinical Challenges (N2C2), providing a statistically significant improvement over the baseline (P<.001). In comparison, in the 2019 N2C2/Open Health Natural Language Processing Shared Task, the median F1 score of all 17 participating teams was 76.59%. CONCLUSIONS: Our approach, which leverages a state-of-the-art named entity recognition model for disease mention detection coupled with a hybrid method for FM mention detection, achieved an effectiveness that was close to that of the top 3 systems participating in the 2019 N2C2 FH extraction challenge, with only the top system convincingly outperforming our approach in terms of precision.

A2A: a platform for research in biomedical literature search.

BACKGROUND: Finding relevant literature is crucial for many biomedical research activities and in the practice of evidence-based medicine. Search engines such as PubMed provide a means to search and retrieve published literature, given a query. However, they are limited in how users can control the processing of queries and articles-or as we call them documents-by the search engine. To give this control to both biomedical researchers and computer scientists working in biomedical information retrieval, we introduce a public online tool for searching over biomedical literature. Our setup is guided by the NIST setup of the relevant TREC evaluation tasks in genomics, clinical decision support, and precision medicine. RESULTS: To provide benchmark results for some of the most common biomedical information retrieval strategies, such as querying MeSH subject headings with a specific weight or querying over the title of the articles only, we present our evaluations on public datasets. Our experiments report well-known information retrieval metrics such as precision at a cutoff of ranked documents. CONCLUSIONS: We introduce the A2A search and benchmarking tool which is publicly available for the researchers who want to explore different search strategies over published biomedical literature. We outline several query formulation strategies and present their evaluations with known human judgements for a large pool of topics, from genomics to precision medicine.

Clinical trial search: Using biomedical language understanding models for re-ranking.

Bidirectional Encoder Representations from Transformers (BERT) have achieved state-of-the-art effectiveness in some of the biomedical information processing applications. We investigate the effectiveness of these techniques for clinical trial search systems. In precision medicine, matching patients to relevant experimental evidence or prospective treatments is a complex task which requires both clinical and biological knowledge. To assist in this complex decision making, we investigate the effectiveness of different ranking models based on the BERT models under the same retrieval platform to ensure fair comparisons. An evaluation on the TREC Precision Medicine benchmarks indicates that our approach using the BERT model pre-trained on scientific abstracts and clinical notes achieves state-of-the-art results, on par with highly specialised, manually optimised heuristic models. We also report the best results to date on the TREC Precision Medicine 2017 ad hoc retrieval task for clinical trial search.

VIGLA-M: visual gene expression data analytics.

BACKGROUND: The analysis of gene expression levels is used in many clinical studies to know how patients evolve or to find new genetic biomarkers that could help in clinical decision making. However, the techniques and software available for these analyses are not intended for physicians, but for geneticists. However, enabling physicians to make initial discoveries on these data would benefit in the clinical assay development. RESULTS: Melanoma is a highly immunogenic tumor. Therefore, in recent years physicians have incorporated immune system altering drugs into their therapeutic arsenal against this disease, revolutionizing the treatment of patients with an advanced stage of the cancer. This has led us to explore and deepen our knowledge of the immunology surrounding melanoma, in order to optimize the approach. Within this project we have developed a database for collecting relevant clinical information for melanoma patients, including the storage of patient gene expression levels obtained from the NanoString platform (several samples are taken from each patient). The Immune Profiling Panel is used in this case. This database is being exploited through the analysis of the different expression profiles of the patients. This analysis is being done with Python, and a parallel version of the algorithms is available with Apache Spark to provide scalability as needed. CONCLUSIONS: VIGLA-M, the visual analysis tool for gene expression levels in melanoma patients is available at http://khaos.uma.es/melanoma/ . The platform with real clinical data can be accessed with a demo user account, physician, using password physician_test_7634 (if you encounter any problems, contact us at this email address: mailto: khaos@lcc.uma.es). The initial results of the analysis of gene expression levels using these tools are providing first insights into the patients' evolution. These results are promising, but larger scale tests must be developed once new patients have been sequenced, to discover new genetic biomarkers.

tESA: a distributional measure for calculating semantic relatedness.

BACKGROUND: Semantic relatedness is a measure that quantifies the strength of a semantic link between two concepts. Often, it can be efficiently approximated with methods that operate on words, which represent these concepts. Approximating semantic relatedness between texts and concepts represented by these texts is an important part of many text and knowledge processing tasks of crucial importance in the ever growing domain of biomedical informatics. The problem of most state-of-the-art methods for calculating semantic relatedness is their dependence on highly specialized, structured knowledge resources, which makes these methods poorly adaptable for many usage scenarios. On the other hand, the domain knowledge in the Life Sciences has become more and more accessible, but mostly in its unstructured form - as texts in large document collections, which makes its use more challenging for automated processing. In this paper we present tESA, an extension to a well known Explicit Semantic Relatedness (ESA) method. RESULTS: In our extension we use two separate sets of vectors, corresponding to different sections of the articles from the underlying corpus of documents, as opposed to the original method, which only uses a single vector space. We present an evaluation of Life Sciences domain-focused applicability of both tESA and domain-adapted Explicit Semantic Analysis. The methods are tested against a set of standard benchmarks established for the evaluation of biomedical semantic relatedness quality. Our experiments show that the propsed method achieves results comparable with or superior to the current state-of-the-art methods. Additionally, a comparative discussion of the results obtained with tESA and ESA is presented, together with a study of the adaptability of the methods to different corpora and their performance with different input parameters. CONCLUSIONS: Our findings suggest that combined use of the semantics from different sections (i.e. extending the original ESA methodology with the use of title vectors) of the documents of scientific corpora may be used to enhance the performance of a distributional semantic relatedness measures, which can be observed in the largest reference datasets. We also present the impact of the proposed extension on the size of distributional representations.

kpath: integration of metabolic pathway linked data.

In the last few years, the Life Sciences domain has experienced a rapid growth in the amount of available biological databases. The heterogeneity of these databases makes data integration a challenging issue. Some integration challenges are locating resources, relationships, data formats, synonyms or ambiguity. The Linked Data approach partially solves the heterogeneity problems by introducing a uniform data representation model. Linked Data refers to a set of best practices for publishing and connecting structured data on the Web. This article introduces kpath, a database that integrates information related to metabolic pathways. kpath also provides a navigational interface that enables not only the browsing, but also the deep use of the integrated data to build metabolic networks based on existing disperse knowledge. This user interface has been used to showcase relationships that can be inferred from the information available in several public databases.

Calculating semantic relatedness for biomedical use in a knowledge-poor environment.

BACKGROUND: Computing semantic relatedness between textual labels representing biological and medical concepts is a crucial task in many automated knowledge extraction and processing applications relevant to the biomedical domain, specifically due to the huge amount of new findings being published each year. Most methods benefit from making use of highly specific resources, thus reducing their usability in many real world scenarios that differ from the original assumptions. In this paper we present a simple resource-efficient method for calculating semantic relatedness in a knowledge-poor environment. The method obtains results comparable to state-of-the-art methods, while being more generic and flexible. The solution being presented here was designed to use only a relatively generic and small document corpus and its statistics, without referring to a previously defined knowledge base, thus it does not assume a 'closed' problem. RESULTS: We propose a method in which computation for two input texts is based on the idea of comparing the vocabulary associated with the best-fit documents related to those texts. As keyterm extraction is a costly process, it is done in a preprocessing step on a 'per-document' basis in order to limit the on-line processing. The actual computations are executed in a compact vector space, limited by the most informative extraction results. The method has been evaluated on five direct benchmarks by calculating correlation coefficients w.r.t. average human answers. It also has been used on Gene - Disease and Disease- Disease data pairs to highlight its potential use as a data analysis tool. Apart from comparisons with reported results, some interesting features of the method have been studied, i.e. the relationship between result quality, efficiency and applicable trimming threshold for size reduction. Experimental evaluation shows that the presented method obtains results that are comparable with current state of the art methods, even surpassing them on a majority of the benchmarks. Additionally, a possible usage scenario for the method is showcased with a real-world data experiment. CONCLUSIONS: Our method improves flexibility of the existing methods without a notable loss of quality. It is a legitimate alternative to the costly construction of specialized knowledge-rich resources.