7 results about "Disease phenotype" patented technology

This invention discloses a method, medium, and device for identifying DRG over-compensation based on invoice reverse engineering and causal imprinting. The method includes: acquiring detailed medical billing data from the medical records to be audited; extracting features of treatment items and mapping them to a medical knowledge graph to obtain a set of feature atoms; inputting the feature atom set into a large language model, outputting real disease phenotypes as pseudo-labels, and performing semantic comparison with the reported primary diagnosis to identify over-compensation of the primary diagnosis; classifying the sensitivity of other reported diagnoses by score, screening high-value complication entities, and verifying their resource consumption matching degree through a clinical pathway constraint library to identify fictitious complications; extracting the main billing items and their low-value billing imprint rule library, and identifying falsely inflated primary intervention items through counterfactual causal comparison; finally, calculating a comprehensive anomaly index based on deviation, matching degree, and divergence, and outputting an audit report. This invention automatically identifies DRG over-compensation anomalies from multiple dimensions, improving the accuracy and comprehensiveness of audits.

The application discloses application of forskolin and / or isoforskolin in preparation of a medicine for preventing and / or treating colitis, and belongs to the technical field of medicines.The medicine can significantly improve the disease phenotype of colitis, including relieving weight loss, reducing disease activity index score, improving colon length shortening and histopathological damage.The mechanism of action involves multiple targets: repairing intestinal mucosal barrier function, reducing local inflammation of the colon, and regulating intestinal flora balance, restoring the abundance of beneficial bacteria and inhibiting the proliferation of pathogenic bacteria.The application provides a candidate drug with anti-inflammatory, barrier repair and flora regulation functions for the treatment of colitis, and expands the medical use of forskolin or isoforskolin.

The application of a natural small molecule compound in the preparation of a drug for treating a disease related to CSF1R function loss belongs to the technical field of medicine. The natural small molecule compound Diosmetin-7-O-beta-D-glucopyranoside (DDG) can effectively improve the disease phenotype of a CSF1R function loss model mouse by up-regulating the transcription and protein expression of CSF1R in microglia through enhancing the activity of a super-enhancer FIRE in the second intron of the CSF1R gene. The drug can be prepared into injection preparations, oral preparations, spray preparations, ointment preparations or patches, and provides a natural small molecule treatment scheme for diseases related to the weakening / loss of CSF1R content or function, and has a wide clinical application prospect.

This invention relates to the field of artificial intelligence technology, specifically to a method for predicting microbial diseases based on the cross-fusion of phylogenetic and abundance data. First, it collects raw metagenomic sequencing data and corresponding species abundance information to construct an initial dataset, builds a model-specific microbial lexicon, and transforms biological entities into symbolic representations that can be processed by deep learning models. Then, it vectorizes the microbial data. Next, a Cross-Attention module is used to achieve cross-modal interaction and fusion between sequence features and abundance features, providing a powerful model for disease phenotype prediction tasks, which is then trained and optimized. Finally, through transfer learning, the discriminative knowledge learned by the model in classification tasks is transformed into topological connections in the network. This allows network centrality analysis to quantify the pivotal importance of each microorganism from the "model decision-making perspective," thereby identifying key biomarkers that are both strongly correlated with disease and located at the ecological core, achieving a transformation from prediction to discovery.

The application discloses a method for establishing a concurrent cataract mouse model, and the mouse model is obtained by retinal-specific knockout of a Phb2 gene. flox / flox The Six3-Cre mouse appears a degenerative retinal disease phenotype at the age of 6-8 weeks, fundus examination shows that the retina is atrophic and thin, the structure of each layer is disordered, the distribution of retinal pigment is disordered, and electrophysiological examination shows that the mouse has abnormal vision function. The mouse appears lens opacity at the age of 8-10 months, and shows a concurrent cataract phenotype. Therefore, the model mouse can better simulate the phenotype of concurrent cataract in clinic, and can be used as an animal model for concurrent cataract related research.

The application discloses a traditional Chinese medicine scoring recommendation method based on Mendelian randomization, generates a traditional Chinese medicine target dataset according to a drug target gene of traditional Chinese medicine, determines a tool variable dataset and a result dataset, performs MR analysis, obtains potential causal correlation between exposure factors and outcome factors, generates a preliminary potential traditional Chinese medicine target dataset for treating a disease phenotype, determines genes existing in the preliminary potential traditional Chinese medicine target dataset for treating the disease phenotype, and generates a traditional Chinese medicine target gene dataset; a basic PPI protein interaction network is constructed, protein node scores corresponding to coding proteins of each traditional Chinese medicine target gene in traditional Chinese medicine are added, a traditional Chinese medicine score is obtained, and then a traditional Chinese medicine scoring ranking is obtained. The application can complete automatic screening of potential disease treatment targets, provide support information of causal correlation identified by Mendelian randomization, and further performs recommendation of potential available traditional Chinese medicine on the basis.

The embodiment of the application provides a SNP-SNP interaction detection method, system, device and medium, relates to the particle swarm optimization technical field, and is used to solve the technical problems that the existing SNP-SNP interaction detection has high time complexity and low optimization efficiency. Including: taking mutual information as a target function, and storing one SNP in each component of all particles; the mutual information is used to represent the correlation between SNP interaction and disease phenotype; all particles are sequentially filled into a plurality of sub-populations from top to bottom in descending order; wherein, the number of particles stored in each sub-population is consistent; the plurality of sub-populations are globally and locally searched to complete algorithm iteration; after the algorithm iteration is terminated, the position of the particle with the highest target function value is obtained, and the correlation between the SNP-SNP interaction corresponding to the particle and the disease phenotype is the strongest.