The PKU Paradox Posts about Download The Book The PKU Paradox (Johns Hopkins Biographies of Disease) [Kindle Edition] for everyone book with Mediafire Link Download Link
<![CDATA[In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.
PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting.
In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.]]>
Books with free ebook downloads available The PKU Paradox
in depth presentation of the people and science behind the governmental mandates for newborn screening for metabolic diseases. it discusses the financial challenges of getting the needed protein formula as well.
By robin
I thought I knew a bit about the history of PKU testing until I read this book. PKU is always upheld as THE success story of genetic testing: a disease with a simple diagnostic test in infants that leads to a fully effective dietary intervention that prevents brain damage. The truth is much more complicated, sobering, and interesting. Historian of science Diane Paul uses PKU as a window to explore the successes, failures, and cautionary tales of genetic testing in general. Her approach is highly original, humanistic, and accessible to any reader curious about the history of genetics in medicine. I pretty much read it at one sitting- it's that engrossing.
By Molly