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1.
Arch Pathol Lab Med ; 2024 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-38190268

RESUMO

CONTEXT.­: Existing targeted cystic fibrosis screening assays miss important pathogenic CFTR variants in the ethnically diverse US population. OBJECTIVE.­: To evaluate the analytic performance of a multiplex polymerase chain reaction (PCR)/capillary electrophoresis (CE) CFTR assay panel that simultaneously interrogates primary pathogenic variants of different ethnic/ancestral groups. DESIGN.­: Performance characteristic assessment and variant coverage comparison of the panel with a focus on ethnicity-specific CFTR variants were performed. Sample DNA was primarily from whole blood or cell lines. Detection of CFTR carriers was compared across several commercially available CFTR kits and recommended variant sets based on panel content. RESULTS.­: The panel interrogated 65 pathogenic CFTR variants representing 92% coverage from a recent genomic sequencing survey of the US population, including 4 variants with top 5 frequency in African or Asian populations not reflected in other targeted panels. In simulation studies, the panel represented 95% of carriers across the global population, resulting in 6.9% to 19.0% higher carrier detection rate compared with 10 targeted panels or variant sets. Precision and sensitivity/specificity were 100% concordant. Multisite sample-level genotyping accuracy was 99.2%. Across PCR and CE instruments, sample-level genotyping accuracy was 97.1%, with greater than 99% agreement for all variant-level metrics. CONCLUSIONS.­: The CFTR assay achieves 92% or higher coverage of CFTR variants in diverse populations and provides improved pan-ethnic coverage of minority subgroups of the US populace. The assay can be completed within 5 hours from DNA sample to genotype, and performance data exceed acceptance criteria for analytic metrics. This assay panel content may help address gaps in ancestry-specific CFTR genotypes while providing a streamlined procedure with rapidly generated results.

2.
J Palliat Med ; 15(11): 1178-80, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22909377

RESUMO

BACKGROUND: Children admitted to pediatric intensive care units (PICUs) face potentially life limiting conditions. The toll on heath care professionals caring for these children is significant and often overlooked. There is a potential need for increased staff support, and facilitated peer support sessions could be an effective management tool, but few studies specifically evaluate this multidisciplinary population. The purpose of this pilot study is to evaluate the current rates of grief and burnout among health care professionals in our PICU, and explore facilitated support sessions as a method of reducing grief perceptions and burnout among providers. METHODS: A convenience sample of approximately 50 interdisciplinary professionals was invited to participate. The Copenhagen Burnout Inventory (CBI) and Hogan Grief Reaction Checklist (HGRC) were administered before and after two interactive, facilitated peer support sessions in a pretest/posttest design. RESULTS: The results of pretest/posttest CBI and HGRC instruments did not indicate statistically significant changes. It is notable that the instruments indicated low levels of grief and burnout among participants pre-/post-implementation. CONCLUSIONS: While facilitated peer support did not reduce grief and burnout scores among our PICU interdisciplinary staff, many factors could have affected results, including small sample size, potentially different participants across sessions, timing of sessions, and the timing of administration of posttest instruments. Additionally, even though not statistically significant, the area of personal growth showed a trend toward improvement, indicating an area for further research.


Assuntos
Esgotamento Profissional/prevenção & controle , Pesar , Pessoal de Saúde/psicologia , Unidades de Terapia Intensiva Pediátrica/organização & administração , Apoio Social , Esgotamento Profissional/psicologia , Esgotamento Profissional/terapia , Humanos , Comunicação Interdisciplinar , Equipe de Assistência ao Paciente/organização & administração , Grupo Associado , Projetos Piloto , Recursos Humanos
3.
Health Policy ; 106(1): 29-36, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22572195

RESUMO

Does the way in which health systems are financed influence whether health policymakers are more or less interested in accessible and equitable health services? Are social democratic governments more interested in primary health care reform than conservative governments? Have particular domains of health policy really become more important over the past decade across a range of countries? In this exploratory article, we investigate the similarities and differences in patterns of attention in health policy in eleven high income countries using data from the Health Policy Monitor database from 2003 to 2010. Our study suggests significant 'islands of difference' in an overall 'sea of similarity' between the health policy agendas of the selected countries. The key findings are: (i) that improving population health outcomes is more likely to be on the agenda under tax-based systems and when centre-left parties are dominant in government; (ii) health systems funded through social insurance are more preoccupied with efficiency and cost-containment than tax-funded systems; (iii) the political complexion of governments is not a major factor shaping health policy agendas; and (iv) since 2003 there has been an increasing interest in initiatives that address public health concerns, access and equity, and population health outcomes.


Assuntos
Países Desenvolvidos , Política de Saúde , Controle de Custos , Atenção à Saúde/economia , Acessibilidade aos Serviços de Saúde , Qualidade da Assistência à Saúde
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