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Objectives: Diagnostic errors are the leading cause of preventable harm in clinical practice. Implementable tools to quantify and target this problem are needed. To address this gap, we aimed to generalize the Symptom-Disease Pair Analysis of Diagnostic Error (SPADE) framework by developing its computable phenotype and then demonstrated how that schema could be applied in multiple clinical contexts.
Methods: We created an information model for the SPADE processes, then mapped data fields from electronic health records (EHR) and claims data in use to that model to create the SPADE information model (intention) and the SPADE computable phenotype (extension). Later we validated the computable phenotype and tested it in four case studies in three different health systems to demonstrate its utility.
Results: We mapped and tested the SPADE computable phenotype in three different sites using four different case studies. We showed that data fields to compute an SPADE base measure are fully available in the EHR Data Warehouse for extraction and can operationalize the SPADE framework from provider and/or insurer perspective, and they could be implemented on numerous health systems for future work in monitor misdiagnosis-related harms.
Conclusions: Data for the SPADE base measure is readily available in EHR and administrative claims. The method of data extraction is potentially universally applicable, and the data extracted is conveniently available within a network system. Further study is needed to validate the computable phenotype across different settings with different data infrastructures.
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http://dx.doi.org/10.1515/dx-2023-0138 | DOI Listing |
Nucleic Acids Res
September 2025
Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA 15206, United States.
Tandem repetition is one of the major processes underlying genome evolution and phenotypic diversification. While newly formed tandem repeats are often easy to identify, it is more challenging to detect repeat copies as they diverge over evolutionary timescales. Existing programs for finding tandem repeats return markedly different results, and it is unclear which predictions are more correct and how much room remains for improvement.
View Article and Find Full Text PDFAlzheimers Dement
September 2025
Boston University Alzheimer's Disease Research Center and BU CTE Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
We describe the rationale, methodology, and design of the Boston University Alzheimer's Disease Research Center (BU ADRC) Clinical Core (CC). The CC characterizes a longitudinal cohort of participants with/without brain trauma to characterize the clinical presentation, biomarker profiles, and risk factors of post-traumatic Alzheimer's disease (AD) and AD-related dementias (ADRD), including chronic traumatic encephalopathy (CTE). Participants complete assessments of traumatic brain injury (TBI) and repetitive head impacts (RHIs); annual Uniform Data Set (UDS) and supplementary evaluations; digital phenotyping; annual blood draw; magnetic resonance imaging (MRI) and lumbar puncture every 3 years; electroencephalogram (EEG); and amyloid and/or tau positron emission tomography (PET) on a subset.
View Article and Find Full Text PDFFEBS Lett
September 2025
Department of Translational Medicine, University of Ferrara, Italy.
This study, based on datasets from healthy tissues, lactating mammary epithelial cells, and breast cancer phenotypes, investigates mammary gland pathophysiology at single-cell resolution to identify key regulators in breast cancer development and to gain a deeper understanding of its biology and heterogeneity. We suggest that antileukoproteinase (SLPI) has prognostic value associated with metastasis in basal breast cancers. Our analysis highlights the similarity between triple-negative breast cancer cells and mature luminal lactocytes, which share active regulons (SOX2, MTHFD1, POU4F3, and ZNF32), suggesting conserved molecular mechanisms.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Rationale: Weaver syndrome is a rare congenital overgrowth disorder characterized by a wide spectrum of clinical manifestations that often overlap with other overgrowth syndromes. It is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1.
View Article and Find Full Text PDFJMIR Cancer
September 2025
Department of Health Outcomes and Biomedical Informatics, University of Florida, 1889 Museum Road, Suite 7000, Gainesville, FL, 32611, United States, 1 352 294-5969.
Background: Disparities in cancer burden between transgender and cisgender individuals remain an underexplored area of research.
Objective: This study aimed to examine the cumulative incidence and associated risk factors for cancer and precancerous conditions among transgender individuals compared with matched cisgender individuals.
Methods: We conducted a retrospective cohort study using patient-level electronic health record (EHR) data from the University of Florida Health Integrated Data Repository between 2012 and 2023.