Current issues in trauma

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• 作者：Timothy C. Fabian ; Tiffany K. Bee ; Catherine Cagianos ; Preston R. Miller ; Martin A. Croce ; Ronald M. Stewart ; Gayle Minard ; Louis J. Magnotti ; Joe H. Patton
• 关键词：cardiovascular disease ; dyslipidemia ; metabolic syndrome ; type 2 diabetes
• 刊名：Current Problems in Surgery
• 出版年：2002
• 出版时间：December 2002
• 年：2002
• 卷：39
• 期：12
• 页码：1160-1244
• 全文大小：950 K

文摘

Since its inception in the 1960s, newborn screening has provided valuable services with regard to detecting infants afflicted with inherited and sporadic chronic disorders and providing prompt medical intervention to prevent serious short- and long-term consequences. Technologic advances have enabled screening programs to greatly expand the number of disorders that can be detected. However, we are currently in a transitional period in which only a minority of states offer expanded screening. The challenge will be to expand newborn screening for those disorders in which presymptomatic detection and intervention improve outcome. The ability to adapt DNA mutation methods to the screening specimen is likely to result in expanded screening possibilities in the future as the knowledge gained by our understanding of genetic diseases increases.

Uniformity of screening protocols from state to state is needed to ensure that all newborns with inherited disorders benefit from early detection. Expansion of newborn screening programs and resources to include patient education and tracking of long-term outcomes is also highly desirable.