Novel Genes Involved in Hypertrophic Cardiomyopathy: Data of Transcriptome and Methylome Profiling.

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease; its pathogenesis is still being intensively studied to explain the reasons for the significant genetic and phenotypic heterogeneity of the disease. To search for new genes involved in HCM development, we analyzed gene expression profiles coupled with DNA methylation profiles in the hypertrophied myocardia of HCM patients. The transcriptome analysis identified significant differences in the levels of 193 genes, most of which were underexpressed in HCM. The methylome analysis revealed 1755 nominally significant differentially methylated positions (DMPs), mostly hypomethylated in HCM. Based on gene ontology enrichment analysis, the majority of biological processes, overrepresented by both differentially expressed genes (DEGs) and DMP-containing genes, are involved in the regulation of locomotion and muscle structure development. The intersection of 193 DEGs and 978 DMP-containing genes pinpointed eight common genes, the expressions of which correlated with the methylation levels of the neighboring DMPs. Half of these genes (AUTS2, BRSK2, PRRT1, and SLC17A7), regulated by the mechanism of DNA methylation, were underexpressed in HCM and were involved in neurogenesis and synapse functioning. Our data, suggesting the involvement of innervation-associated genes in HCM, provide additional insights into disease pathogenesis and expand the field of further research.

Novel use of electronic whiteboard in the operating room increases surgical team compliance with pre-incision safety practices.

BACKGROUND: Despite evidence that use of a checklist during the pre-incision time out improves patient morbidity and mortality, compliance with performing the required elements of the checklist has been low. In an effort to improve compliance, a standardized time out interactive Electronic Checklist System [iECS] was implemented in all hospital operating room (OR) suites at 1 institution. The purpose of this 12-month prospective observational study was to assess whether an iECS in the OR improves and sustains improved surgical team compliance with the pre-incision time out. METHODS: Direct observational analyses of preprocedural time outs were performed on 80 cases 1 month before, and 1 and 9 months after implementation of the iECS, for a total of 240 observed cases. Three observers, who achieved high interrater reliability (kappa = 0.83), recorded a compliance score (yes, 1; no, 0) on each element of the time out. An element was scored as compliant if it was clearly verbalized by the surgical team. RESULTS: Pre-intervention observations indicated that surgical staff verbally communicated the core elements of the time out procedure 49.7 ± 12.9% of the time. After implementation of the iECS, direct observation of 80 surgical cases at 1 and 9 months indicated that surgical staff verbally communicated the core elements of the time out procedure 81.6 ± 11.4% and 85.8 ± 6.8% of the time, respectively, resulting in a statistically significant (P < .0001) increase in time out procedural compliance. CONCLUSION: Implementation of a standardized, iECS can dramatically increase compliance with preprocedural time outs in the OR, an important and necessary step in improving patient outcomes and reducing preventable complications and deaths.