Semantic Embeddings and the Peripheral Transcriptome in Ischemic Stroke: Connecting Molecular Signatures to NANDA-I Diagnoses
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Objective
To construct and evaluate, in an exploratory manner, a pathophysiologic rationale linking biological pathways derived from the peripheral transcriptome in ischemic stroke (IS) to nursing diagnoses in the NANDA-I 2024-2026 taxonomy, while emphasizing that this association is not direct, deterministic, or automatically inferable from textual similarity with large language models (LLMs).
Methods
A computational study was conducted using public secondary data from the Gene Expression Omnibus series GSE16561, which includes 63 peripheral blood samples: 39 from individuals with IS and 24 from healthy controls. The pipeline integrated transcriptomic analysis and functional enrichment, semantic mapping through ClinicalBERT embeddings, and mechanistic and clinical-conceptual judgment using Claude Sonnet 4.6 as a judge. The judgment stage was treated as the central interpretive layer, designed to mediate the transcriptome, pathophysiology, functional manifestation, and NANDA-I diagnosis.
Results
The analysis identified a bimodal transcriptomic pattern, with activation of pathways related to innate immunity and suppression of pathways related to adaptive immunity. Semantic mapping generated 158 pathway-diagnosis pairs. The Spearman correlation between cosine similarity and the mechanistic score was negative and statistically significant (rho = -0.243; p = 2.09e-03), but weak in magnitude. This effect size indicates that semantic similarity explained less than 6% of the variance in mechanistic plausibility, reinforcing the insufficiency of embeddings as a stand-alone criterion. Of the 158 pairs, 14 were classified as high concordance, 8 as moderate, and 136 as divergent.
Conclusion
The main value of this study lies in demonstrating that translating biological pathways into nursing diagnoses requires pathophysiologic, functional, and clinical-conceptual mediation. The prioritized pairs represent mechanistically plausible hypotheses for future research, without implying causality, direct clinical confirmation, or immediate care recommendations.
