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Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy. 相似文献
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This article presents a developmental account of changes in the visual guidance of locomotion. In contrast to the impressive efficiency of adult locomotion, locomotor activity is not under prospective control at the onset of human mobility. Infants require extensive crawling and walking experience before responding adaptively to variations in the terrain. At the same time that they are learning to navigate in increasingly varied environments, their bodies and skills are rapidly changing. Learning generalizes from safe, flat ground to novel surfaces but it does not transfer to new methods of locomotion. We account for these patterns of generality and specificity of learning by focusing on the role of exploratory behavior in detecting threats to balance control. 相似文献
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Abstract There is a growing popularity of non-pharmacologic treatments for hypertension; among them is exercise. This paper critically reviews the evidence for the anti-hypertensive effect of exercise, scanning both the epidemiologic and experimental research. It evaluates some of the literature on exercise adherence, briefly describes one exercise program designed to promote adherence, and draws conclusions based on the literature. 相似文献
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Following Freud's emphasis on his rejection of hypnosis as leading up to the development of psychoanalysis, there has been little mention in the psychoanalytic literature of the larger context of the somatic medical treatment of hysteria within which Freud treated his hysterical patients, and which Freud himself practiced. We contend that Freud's emphasis obscured his association with massage, electrotherapy, and the procedure of genital stimulation practiced by his medical colleagues in the treatment of hysteria. We show that the history of genital stimulation—including its obfuscation, desexualization, medicalization, and co-option from traditional women healers by an exclusively male medical establishment—provides us with the background for a more sophisticated understanding of the context in which Freud developed his theories. Specifically, we examine the contribution of this understanding to Freud's theoretical emphases on autonomy and individuality, abstinence and the renunciation of gratification, penis envy, clitoral versus vaginal orgasm, mature genital sexuality, and the “repudiation of femininity” as the “bedrock” of psychoanalysis. We demonstrate that Freud's position as a Jew in an anti-Semitic milieu fueled his efforts to distance his psychoanalytic method from the more prurient practices of his day, including one his society associated with Jewish doctors and patients. 相似文献