Validation of whole genome sequencing from dried blood spots.

BACKGROUND: Dried blood spots (DBS) are a relatively inexpensive source of nucleic acids and are easy to collect, transport, and store in large-scale field surveys, especially in resource-limited settings. However, their performance in whole-genome sequencing (WGS) relative to that of venous blood DNA has not been analyzed for various downstream applications. METHODS: This study compares the WGS performance of DBS paired with venous blood samples collected from 12 subjects. RESULTS: Results of standard quality checks of coverage, base quality, and mapping quality were found to be near identical between DBS and venous blood. Concordance for single-nucleotide variants, insertions and deletions, and copy number variants was high between these two sample types. Additionally, downstream analyses typical of population-based studies were performed, such as mitochondrial heteroplasmy detection, haplotype analysis, mitochondrial copy number changes, and determination of telomere lengths. The absolute mitochondrial copy number values were higher for DBS than for venous blood, though the trend in sample-to-sample variation was similar between DBS and blood. Telomere length estimates in most DBS samples were on par with those from venous blood. CONCLUSION: DBS samples can serve as a robust and feasible alternative to venous blood for studies requiring WGS analysis.

Pediatric cuffed endotracheal tubes: an evolution of care.

PURPOSE: To examine the history of pediatric endotracheal intubation and the issues surrounding the change from uncuffed endotracheal tubes to cuffed endotracheal tubes, including pediatric airway anatomy, endotracheal tube design, complications, and safety concerns. METHOD: Review of the literature. CONCLUSIONS: Although the use of cuffed endotracheal tubes in infants and children remains a topic of debate, the literature supports this change in practice. Meticulous attention must be given to intracuff pressure. Cuffed endotracheal tubes designed especially for the pediatric patient may increase the margin of safety.