Penetrance of Malignant Hyperthermia,   In a multicenter case-control study of 229 genotype-positive subjects with previous recorded exposure to trigger anesthetics, there were 93 malignant hypothermia cases, for an overall penetrance for the analyzed RYR1 mutations of 40.6%. The probability of developing malignant hypothermia on exposure to triggers was 0.25 among all RYR1 mutation carriers and 0.76 in survivors of malignant hypothermia reactions (95% CI of the difference 0.41 to 0.59). Young age, male sex, and the use of succinylcholine were major nongenetic risk factors influencing expression of the RYR1 mutations conferring malignant hypothermia sensitivity.
	FREE Awareness Genetics, A preliminary study sought to determine whether there is evidence that awareness with recall is caused by a few rare variants with high penetrance in 12 patients who had experienced awareness with recall in the presence of apparently adequate anesthesia. Whole exome sequencing was conducted and identified variants were filtered and prioritized to identify a candidate list that might be suitable for further investigation of causes of awareness with recall. No candidate gene(s) suggestive of a monogenic etiology were identified, possibly because of the application of a filtering strategy, the small sample size, or use of exome sequencing, which does not interrogate potentially important regulatory noncoding sequences.