Face and construct validity of virtual reality simulation of laparoscopic gynecologic surgery

OBJECTIVE: The objective of the study was to validate virtual reality simulation in assessing laparoscopic skills in gynecology by establishing the extent of realism of the simulation to the actual task (face validity) and the degree to which the results of the test one uses reflects the subject tested (construct validity). STUDY DESIGN: Subjects (n = 56) were divided into 3 groups: novices (n = 15), intermediates (n = 20), and experts (n = 21). Participants completed 3 repetitions of a training program consisting of 4 basic skills and 3 gynecologic procedural simulations. The performance was compared between groups using a post hoc Student t test with the Bonferroni technique. Face validity was determined by using a questionnaire of 27 statements. RESULTS: Resulting from the questionnaire, the opinion about the realism and training capacities of the tasks was favorable among all groups. The degree of prior laparoscopic experience was reflected in the outcome performance parameters of the tasks. Experts achieved significant better scores on specific parameters. CONCLUSION: The results of this study indicate acceptance and thus face validity of the system among both reference (novice, intermediate) and expert group. There is a significant difference between subjects with different laparoscopic experience and thereby construct validity for the laparoscopic simulator could be establishe

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

The leading cause of end-stage renal disease in children is attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Familial clustering and mouse models support the presence of monogenic causes. Genetic testing is insufficient as it mainly focuses on HNF1B and PAX2 mutations that are thought to explain CAKUT in 5-15% of patients. To identify novel, potentially pathogenic variants in additional genes, we designed a panel of genes identified from studies on familial forms of isolated or syndromic CAKUT and genes suggested by in vitro and in vivo CAKUT models. The coding exons of 208 genes were analyzed in 453 patients with CAKUT using next-generation sequencing. Rare truncating, splice-site variants, and non-synonymous variants, predicted to be deleterious and conserved, were prioritized as the most promising variants to have an effect on CAKUT. Previously reported disease-causing mutations were detected, but only five were fully penetrant causal mutations that improved diagnosis. We prioritized 148 candidate variants in 151 patients, found in 82 genes, for follow-up studies. Using a burden test, no significant excess of rare variants in any of the genes in our cohort compared with controls was found. Thus, in a study representing the largest set of genes analyzed in CAKUT patients to date, the contribution of previously implicated genes to CAKUT risk was significantly smaller than expected, and the disease may be more complex than previously assumed.Kidney International advance online publication, 21 October 2015; doi:10.1038/ki.2015.319