Dataset Information

FindZebra online search delving into rare disease case reports using natural language processing.

ABSTRACT: Early diagnosis is crucial for well-being and life quality of the rare disease patient. Access to the most complete knowledge about diseases through intelligent user interfaces can play an important role in supporting the physician reaching the correct diagnosis. Case reports may offer information about heterogeneous phenotypes which often further complicate rare disease diagnosis. The rare disease search engine FindZebra.com is extended to also access case report abstracts extracted from PubMed for several diseases. A search index for each disease is built in Apache Solr adding age, sex and clinical features extracted using text segmentation to enhance the specificity of search. Clinical experts performed retrospective validation of the search engine, utilising real-world Outcomes Survey data on Gaucher and Fabry patients. Medical experts evaluated the search results as being clinically relevant for the Fabry patients and less clinically relevant for the Gaucher patients. The shortcomings for Gaucher patients mainly reflect a mismatch between the current understanding and treatment of the disease and how it is reported in PubMed, notably in the older case reports. In response to this observation, a filter for the publication date was added in the final version of the tool available from deep.findzebra.com/ with = gaucher, fabry, hae (Hereditary angioedema).

SUBMITTER: Lievin V

PROVIDER: S-EPMC10309602 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

FindZebra online search delving into rare disease case reports using natural language processing.

Liévin Valentin V Hansen Jonas Meinertz JM Lund Allan A Elstein Deborah D Matthiesen Mads Emil ME Elomaa Kaisa K Zarakowska Kaja K Himmelhan Iris I Botha Jaco J Borgeskov Hanne H Winther Ole O

PLOS digital health 20230629 6

Early diagnosis is crucial for well-being and life quality of the rare disease patient. Access to the most complete knowledge about diseases through intelligent user interfaces can play an important role in supporting the physician reaching the correct diagnosis. Case reports may offer information about heterogeneous phenotypes which often further complicate rare disease diagnosis. The rare disease search engine FindZebra.com is extended to also access case report abstracts extracted from PubMed ...[more]

PMID: 37384616

Similar Datasets

Project description:Study aimTo develop and apply a natural language processing algorithm for characterization of patients diagnosed with chronic pancreatitis in a diverse integrated U.S. healthcare system.MethodsRetrospective cohort study including patients initially diagnosed with chronic pancreatitis (CP) within a regional integrated healthcare system between January 1, 2006 and December 31, 2015. Imaging reports from these patients were extracted from the electronic medical record system and split into training, validation and implementation datasets. A natural language processing (NLP) algorithm was first developed through the training dataset to identify specific features (atrophy, calcification, pseudocyst, cyst and main duct dilatation) from free-text radiology reports. The validation dataset was applied to validate the performance by comparing against the manual chart review. The developed algorithm was then applied to the implementation dataset. We classified patients with calcification(s) or ≥2 radiographic features as advanced CP. We compared etiology, comorbid conditions, treatment parameters as well as survival between advanced CP and others diagnosed during the study period.Results6,346 patients were diagnosed with CP during the study period with 58,085 radiology studies performed. For individual features, NLP yielded sensitivity from 88.7% to 95.3%, specificity from 98.2% to 100.0%. A total of 3,672 patients met cohort inclusion criteria: 1,330 (36.2%) had evidence of advanced CP. Patients with advanced CP had increased frequency of smoking (57.8% vs. 43.0%), diabetes (47.6% vs. 35.9%) and underweight body mass index (6.6% vs. 3.6%), all p<0.001. Mortality from pancreatic cancer was higher in advanced CP (15.3/1,000 person-year vs. 2.8/1,000, p<0.001). Underweight BMI (HR 1.6, 95% CL 1.2, 2.1), smoking (HR 1.4, 95% CL 1.1, 1.7) and diabetes (HR 1.4, 95% CL 1.2, 1.6) were independent risk factors for mortality.ConclusionPatients with advanced CP experienced increased disease-related complications and pancreatic cancer-related mortality. Excess all-cause mortality was driven primarily by potentially modifiable risk factors including malnutrition, smoking and diabetes.

Project description:ObjectivesTo evaluate factors affecting performance of influenza detection, including accuracy of natural language processing (NLP), discriminative ability of Bayesian network (BN) classifiers, and feature selection.MethodsWe derived a testing dataset of 124 influenza patients and 87 non-influenza (shigellosis) patients. To assess NLP finding-extraction performance, we measured the overall accuracy, recall, and precision of Topaz and MedLEE parsers for 31 influenza-related findings against a reference standard established by three physician reviewers. To elucidate the relative contribution of NLP and BN classifier to classification performance, we compared the discriminative ability of nine combinations of finding-extraction methods (expert, Topaz, and MedLEE) and classifiers (one human-parameterized BN and two machine-parameterized BNs). To assess the effects of feature selection, we conducted secondary analyses of discriminative ability using the most influential findings defined by their likelihood ratios.ResultsThe overall accuracy of Topaz was significantly better than MedLEE (with post-processing) (0.78 vs 0.71, p<0.0001). Classifiers using human-annotated findings were superior to classifiers using Topaz/MedLEE-extracted findings (average area under the receiver operating characteristic (AUROC): 0.75 vs 0.68, p=0.0113), and machine-parameterized classifiers were superior to the human-parameterized classifier (average AUROC: 0.73 vs 0.66, p=0.0059). The classifiers using the 17 'most influential' findings were more accurate than classifiers using all 31 subject-matter expert-identified findings (average AUROC: 0.76>0.70, p<0.05).ConclusionsUsing a three-component evaluation method we demonstrated how one could elucidate the relative contributions of components under an integrated framework. To improve classification performance, this study encourages researchers to improve NLP accuracy, use a machine-parameterized classifier, and apply feature selection methods.

Dataset Information

FindZebra online search delving into rare disease case reports using natural language processing.

Publications

FindZebra online search delving into rare disease case reports using natural language processing.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets