Problem Because researchers and policy-makers work in different spheres, policy decisions in the health arena are often not based on available scientific evidence. Approach We describe a model that illustrates the policy process and how to work strategically to translate knowledge into policy actions. Several types of activity -agenda-setting, coalition building and policy learning -together can create a window of opportunity for policy change. Local setting Activities were undertaken as part of the Kenyan Ministry of Health's new decentralized planning-process. The objective was to ensure that the results of a national assessment of health services were used in the preparation of district-level health plans. Relevant changes Following the intervention, 70 district-level, evidence-based work plans were developed and approved by the Kenyan Ministry of Health. Lessons learned Substantial investment and effort are needed to bring stakeholders together to work towards policy change. More in-depth evaluation of these efforts can aid understanding of how systematic approaches to policy change can be replicated elsewhere.Bulletin of the World Health Organization 2006;84:669-672.Voir page 671 le résumé en français. En la página 671 figura un resumen en español.
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase (CYP21) gene. To develop a strategy to screen for the most commonly occurring CYP21 mutations in Brazil, we performed molecular genotype analysis on 73 children with CAH representing 71 unrelated families. The techniques used for CYP21 molecular genotype analysis were: restriction fragment length polymorphism, single-strand conformational polymorphism, allele-specific oligonucleotide hybridization, allele-specific polymerase chain reaction amplification, and heteroduplex analyses. Mutations were identified on all but eight affected alleles. The intron 2 splicing mutation was the most frequently identified mutation. Screening for the most common mutations detected at least one mutation on 132/142 (93%) alleles. Multiple CYP21 mutations were detected on 16.2% of alleles. The high frequency of multiple mutations on a single allele emphasizes the importance of thorough and accurate molecular genotype analysis of the complex CYP21 locus.
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