ABSTRACT
Pediatric patients in the neonatal intensive care unit (NICU) and the pediatric intensive care unit (PICU) have a high incidence rate of genetic diseases, and early rapid etiological diagnosis and targeted interventions can help to reduce mortality or improve prognosis. Whole-genome sequencing covers more comprehensive information including point mutation, copy number, and structural and rearrangement variations in the intron region and has become one of the powerful diagnostic tools for genetic diseases. Sequencing data require highly professional judgment and interpretation and are returned for clinical application after several weeks, which cannot meet the need for the diagnosis and treatment of genetic diseases in children. This article introduces the clinical application of rapid whole-genome sequencing in the NICU/PICU and briefly describes related techniques of artificial intelligence-rapid whole-genome sequencing diagnostic system, a rapid high-throughput automated platform for the diagnosis of genetic diseases. The diagnostic system introduces artificial intelligence into the processing of data after whole-genome sequencing and can solve the problems of long time and professional interpretation required for routine genome sequencing and provide a rapid diagnostic regimen for critically ill children suspected of genetic diseases within 24 hours, and therefore, it holds promise for clinical application.
Subject(s)
Child , Humans , Infant, Newborn , Artificial Intelligence , Critical Illness , Intensive Care Units, Neonatal , Intensive Care Units, Pediatric , Whole Genome SequencingABSTRACT
This paper presents a method based on NLP to realize structuralization of digestive endoscopy reports. The method is taking advantage of existing NLP's processing technologies and introducing minimal standard terminology (MST) to transform a narrative gastroscopy report into the structuralization report based on MST, whose accuracy rate is 92.3%.
Subject(s)
Endoscopy, Gastrointestinal , Methods , Forms and Records Control , Medical Records Systems, Computerized , Terminology as Topic , Vocabulary, ControlledABSTRACT
This paper presents a typical Clinical Information System for ICU and its design and implementation. This system is able to capture and archive vital data from the monitor network, providing a whole digital solution in ICU. These vital data can be used in quantitative analysis in the computer-assisted decision support.