Identifying Symptoms of Delirium from Clinical Narratives Using Natural Language Processing.

Delirium is an acute decline or fluctuation in attention, awareness, or other cognitive function that can lead to serious adverse outcomes. Despite the severe outcomes, delirium is frequently unrecognized and uncoded in patients' electronic health records (EHRs) due to its transient and diverse nature. Natural language processing (NLP), a key technology that extracts medical concepts from clinical narratives, has shown great potential in studies of delirium outcomes and symptoms.

Biallelic variants in the cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.

Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.

Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.

Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.

Revealing systematic changes in the transcriptome during the transition from exponential growth to stationary phase.

Unlabelled: The composition of bacterial transcriptomes is determined by the transcriptional regulatory network (TRN). The TRN regulates the transition from one physiological state to another. Here, we use independent component analysis to monitor the composition of the transcriptome during the transition from the exponential growth phase to the stationary phase.

Bothersome Back Exchange in MALDI Plume and Its Impact on Hydrogen/Deuterium Exchange Mass Spectrometry Analysis.

One critical issue in hydrogen/deuterium exchange mass spectrometry (HDX MS) analysis is the deleterious back exchange. Herein, we report that when matrix-assisted laser desorption/ionization (MALDI) is used, the MALDI process itself can also cause significant back exchange. The back exchange occurred inside the reactive MALDI plume was investigated by depositing a fully deuterated sample prepared in DO on top of a preloaded dried layer of matrix.