Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.

BACKGROUND: Neuroblastoma is an embryonal cancer of the developing sympathetic nervous system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in patients without a family history remains unclear. METHODS: Germline DNA sequencing was performed on 786 neuroblastoma patients. The frequency of rare cancer predisposition gene pathogenic or likely pathogenic variants in patients was compared with 2 cancer-free control cohorts. Matched tumor DNA sequencing was evaluated for second hits, and germline DNA array data from 5585 neuroblastoma patients and 23 505 cancer-free control children were analyzed to identify rare germline copy number variants. Patients with germline pathogenic or likely pathogenic variants were compared with those without to test for association with clinical characteristics, tumor features, and survival. RESULTS: We observed 116 pathogenic or likely pathogenic variants involving 13.9% (109 of 786) of neuroblastoma patients, representing a statistically significant excess burden compared with cancer-free participants (odds ratio [OR] = 1.60, 95% confidence interval [CI] = 1.27 to 2.00). BARD1 harbored the most statistically significant enrichment of pathogenic or likely pathogenic variants (OR = 32.30, 95% CI = 6.44 to 310.35). Rare germline copy number variants disrupting BARD1 were identified in patients but absent in cancer-free participants (OR = 29.47, 95% CI = 1.52 to 570.70). Patients harboring a germline pathogenic or likely pathogenic variant had a worse overall survival compared with those without (P = 8.6 x 10-3). CONCLUSIONS: BARD1 is an important neuroblastoma predisposition gene harboring both common and rare germline pathogenic or likely pathogenic variations. The presence of any germline pathogenic or likely pathogenic variant in a cancer predisposition gene was independently predictive of worse overall survival. As centers move toward paired tumor-normal sequencing at diagnosis, efforts should be made to centralize data and provide an infrastructure to support cooperative longitudinal prospective studies of germline pathogenic variation

Integrative Review: Virtual Disaster Training

Background: A critical component of disaster preparedness is the training of the healthcare workforce. Because live disaster exercises are expensive and labor intensive, virtual reality simulation may offer a viable solution as a disaster training method. The purpose of this integrative review was to examine the scientific evidence pertaining to the efficacy of virtual reality training in disaster training of healthcare workers. Inclusion criteria were: empiric literature focused on the use of virtual reality simulation (VRS) in disaster training, written in English, peer-reviewed literature and published during the time period of 2005-June, 2012. An exclusion criterion was the use of virtual simulation for modeling the effects of disaster because these articles were not used for immersive training purposes. Methodology: A five-stage process was followed as the methodological strategy for the integrative review. These stages included identification of the problem and purposes, a defined search strategy (method), evaluation and analysis of data and the presentation of findings. A search of diverse databases was performed. These databases include PubMed, the Cumulative Index of Nursing and Allied Healthcare Literature, Education Resources Information Center, Academic Search Complete, Computer Source, and Computer/Applied Science. Results: Principle findings identified three major themes including: descriptions of the participant’s VRS experiences,learning results after participation in VRS and an exploration of how knowledge construction occurs in the virtual environment. Eleven research articles were selected for inclusion in the review. Conclusions: The review found there are too few studies investigating the efficacy of VRS and disaster training. Rigorous larger studies with measurement of long-term retention are needed. There is also a need to assess the self-efficacy to act indifferent types of disasters, and evaluate behavioral determinates such as performance in triage, decontamination, and transport

Fostering Learning Through Interprofessional Virtual Reality Simulation Development [Innovation Center]

This article presents a unique strategy for improving didactic learning and clinical skill while simultaneously fostering interprofessional collaboration and communication. Senior-level nursing students collaborated with students enrolled in the Department of Interactive Media Studies to design a virtual reality simulation based upon disaster management and triage techniques. Collaborative creation of the simulation proved to be a strategy for enhancing students\u27 knowledge of and skill in disaster management and triage while impacting attitudes about interprofessional communication and teamwork

Fostering Learning Through Interprofessional Virtual Reality Simulation Development [Innovation Center]

This article presents a unique strategy for improving didactic learning and clinical skill while simultaneously fostering interprofessional collaboration and communication. Senior-level nursing students collaborated with students enrolled in the Department of Interactive Media Studies to design a virtual reality simulation based upon disaster management and triage techniques. Collaborative creation of the simulation proved to be a strategy for enhancing students\u27 knowledge of and skill in disaster management and triage while impacting attitudes about interprofessional communication and teamwork