CIRCULATION,2006年
LicenseType:Free |
CIRCULATION,2006年
LicenseType:Free |
CIRCULATION,2006年
LicenseType:Free |
4 Role of genetic analyses in cardiology - Part I: Mendelian diseases: Cardiac channelopathies [期刊论文]
CIRCULATION,2006年
LicenseType:Free |
Genetic analysis can be performed to identify the molecular substrate of inherited arrhythmogenic diseases; however, the role of this information in helping the management of patients is still debated. Here, we support the view that the practical value of genetic analysis is different in the various inherited conditions and that it is strongly influenced by the amount of information available in each disease about genotype-phenotype correlations. In some diseases, clinical management of patients is profoundly affected by the type of the underlying genetic defect; therefore, in these conditions, there is a high priority to introduce genetic analysis into clinical practice. In the absence of genotype-phenotype correlations, genetic testing still can be very useful when there is a clinical advantage in establishing presymptomatic diagnosis or when screening of family members may point to reproductive counseling. Finally, there is a high priority for introducing genetic testing for those genetic diseases in which a limited number of genes allow a high yield of successfully genotyped patients. We have developed a score to compare the value of genetic testing in arrhythmogenic diseases and to convey our view that the clinical role of genetic analysis is different in the various inherited cardiomyopathies and channelopathies. Healthcare authorities should become responsive to the advancement of knowledge in this field and should help facilitate access to genotyping for families affected by those conditions in which genetic analysis provides useful information for clinical management.
CIRCULATION,2006年
LicenseType:Free |
CIRCULATION,2006年
LicenseType:Free |
In this review, our first purpose is to provide an overview of existing physical activity intervention research, focusing on subpopulations and intervention modalities. Our reviews within each area are not exhaustive or quantitative, as each area has been reviewed in more depth in numerous other reports. Instead, our goal is to provide a single document that provides a qualitative overview of intervention research that emphasizes selected topics of particular importance for improving the population-wide impact of interventions. Therefore, in synthesizing this vast literature, we begin with existing reviews of physical activity research in each area and incorporate in our discussions recent reports of well-designed individual physical activity intervention studies that expand the existing research base and/or target new areas of research. Our second purpose is to offer new ideas and recommendations to improve the state of the science within each area and, where possible, to propose ideas to help bridge the gaps between these existing categories of research.