13 research outputs found

    AD51B in Familial Breast Cancer

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    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

    Computer Simulation as a Tool for Assessing Decision-Making in Pandemic Influenza Response Training

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    Introduction: We sought to develop and test a computer-based, interactive simulation of a hypothetical pandemic influenza outbreak. Fidelity was enhanced with integrated video and branching decision trees, built upon the 2007 federal planning assumptions. We conducted a before-and-after study of the simulation effectiveness to assess the simulations’ ability to assess participants’ beliefs regarding their own hospitals’ mass casualty incident preparedness.Methods: Development: Using a Delphi process, we finalized a simulation that serves up a minimum of over 50 key decisions to 6 role-players on networked laptops in a conference area. The simulation played out an 8-week scenario, beginning with pre-incident decisions. Testing: Role-players and trainees (N=155) were facilitated to make decisions during the pandemic. Because decision responses vary, the simulation plays out differently, and a casualty counter quantifies hypothetical losses. The facilitator reviews and critiques key factors for casualty control, including effective communications, working with external organizations, development of internal policies and procedures, maintaining supplies and services, technical infrastructure support, public relations and training. Pre- and post-survey data were compared on trainees.Results: Post-simulation trainees indicated a greater likelihood of needing to improve their organization in terms of communications, mass casualty incident planning, public information and training. Participants also recognized which key factors required immediate attention at their own home facilities.Conclusion: The use of a computer-simulation was effective in providing a facilitated environment for determining the perception of preparedness, evaluating general preparedness concepts and introduced participants to critical decisions involved in handling a regional pandemic influenza surge. [West J Emerg Med. 2013;14(3):236–242.

    Hospital-Based Coalition to Improve Regional Surge Capacity

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    Introduction: Surge capacity for optimization of access to hospital beds is a limiting factor in response to catastrophic events. Medical facilities, communication tools, manpower, and resource reserves exist to respond to these events. However, these factors may not be optimally functioning to generate an effective and efficient surge response. The objective was to improve the function of these factors.Methods: Regional healthcare facilities and supporting local emergency response agencies developed a coalition (the Healthcare Facilities Partnership of South Central Pennsylvania; HCFPSCPA) to increase regional surge capacity and emergency preparedness for healthcare facilities. The coalition focused on 6 objectives: (1) increase awareness of capabilities and assets, (2) develop and pilot test advanced planning and exercising of plans in the region, (3) augment written medical mutual aid agreements, (4) develop and strengthen partnership relationships, (5) ensure National Incident Management System compliance, and (6) develop and test a plan for effective utilization of volunteer healthcare professionals.Results: In comparison to baseline measurements, the coalition improved existing areas covered under all 6 objectives documented during a 24-month evaluation period. Enhanced communicationsbetween the hospital coalition, and real-time exercises, were used to provide evidence of improved preparedness for putative mass casualty incidents.Conclusion: The HCFP-SCPA successfully increased preparedness and surge capacity through a partnership of regional healthcare facilities and emergency response agencies. [West J Emerg Med. 2012;13(5):445–452.
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