- Email: [email protected]
50 Years Ago in The Journal of Pediatrics
THE JOURNAL OF PEDIATRICS
www.jpeds.com
8. Flanagan B. The Birmingham News. Three added to Tuscaloosa tornado death toll. Available from: http://blog.al.com/tuscaloosa/2011/07/three_ names_added_to_tuscaloos.html. Accessed August 1, 2011. 9. Reynolds B. Tuscaloosa News. City releases names of tornado victims. Available from: http://www.tuscaloosanews.com/article/20110501/ NEWS/110509969. Accessed July 14, 2011. 10. Children’s Hospital of Alabama. Pediatric injury updates, 4/28/11 and 4/ 29/11. Available from: http://www.childrensal.org/body.cfm?id=1454. Accessed August 15, 2011. 11. National Oceanic and Atmospheric Administration Storm Prediction Center, Norman, Oklahoma. Tornado watch 235 watch hazard probabilities. Available from: http://www.spc.noaa.gov/products/watch/ ww0235_prob.html. Accessed August 1, 2011.
Vol. 161, No. 3 12. McCarthy DM, Chiampas GT, Malik S, Cole K, Lindeman P, Adams JG. Enhancing community disaster resilience through mass sporting events. Disaster Med Public Health Prep 2011;5: 310-5. 13. Bohn D, Kanter RK, Burns J, Barfield WD, Kissoon N. Supplies and equipment for pediatric emergency mass critical care. Pediatr Crit Care Med 2011;12:S120-7. 14. Kanter RK. Regional variation in critical care evacuation needs for children after a mass casualty incident. Disaster Med Public Health Prep 2012. in press. 15. Federal Emergency Management Agency. National response framework. Available from: http://www.fema.gov/emergency/nrf/. Accessed September 8, 2011.
50 Years Ago in THE JOURNAL OF PEDIATRICS Comparison of Serum Phenylalanine Levels with Growth in Guthrie’s Inhibition Assay in Newborn Infants Scheel C, Berry HK. J Pediatr 1962;61:610-6
S
cheel and Berry compare whole blood measurements of phenylalanine by using the bacterial inhibition assay developed by Guthrie with established procedures.1 They describe a 5% false-positive rate using the bacterial inhibition assay method and worry about the risk of false negatives, because the test depends on the infant’s ingestion of sufficient protein. They conclude that “Guthrie’s inhibition assay was probably not sensitive enough for use as a test for detection of phenylketonuria (PKU) in a nursery for newborn infants.” A year later, Guthrie would begin a pilot screening of 400 000 infants. In 1965, the American Academy of Pediatrics (AAP) Committee on Fetus and Newborn and the AAP Committee on the Handicapped Child recommended screening all infants for PKU,1,2 although the AAP Committee on the Handicapped Child cautioned that much was unknown.1 Despite these unknowns, 43 states passed mandatory legislation by 1968.3 Today, PKU is included in the universal newborn screening (NBS) programs in all states and many countries around the world. In the United States, NBS for PKU is now performed using tandem mass spectrometry, which can identify infants in the first day of life independent of protein ingestion. The heterogeneity of disease expression, lack of genotypic-phenotypic correlation, and large number of identified mutations are problems being seen with many genetic disorders that are being added to state NBS panels today.4 Parents, physicians, and policy analysts are active on both sides of the issue. Although PKU screening is now considered the gold standard for public health screening programs, the early history reminds us of the complexity of what was once considered a simple Mendelian genetic disorder. Lainie Friedman Ross, MD, PhD Department of Pediatrics University of Chicago Chicago, Illinois
References
http://dx.doi.org/10.1016/j.jpeds.2012.04.061
1. American Academy of Pediatrics, Committee on the Handicapped Child. Statement on treatment of phenylketonuria. Pediatrics 1965;35:501-3. 2. American Academy of Pediatrics, Committee on Fetus and Newborn. Screening of newborn infants for metabolic disease. Pediatrics 1965;35: 499-501. 3. National Research Council, Committee for the Study of Inborn Errors of Metabolism. Genetic screening: programs, principles and research. Washington, DC: National Academy of Sciences; 1975. 4. President’s Council on Bioethics. The changing moral focus of newborn screening. Washington, DC: US Government Printing Office; 2008.
530
Kanter
www.jpeds.com
8. Flanagan B. The Birmingham News. Three added to Tuscaloosa tornado death toll. Available from: http://blog.al.com/tuscaloosa/2011/07/three_ names_added_to_tuscaloos.html. Accessed August 1, 2011. 9. Reynolds B. Tuscaloosa News. City releases names of tornado victims. Available from: http://www.tuscaloosanews.com/article/20110501/ NEWS/110509969. Accessed July 14, 2011. 10. Children’s Hospital of Alabama. Pediatric injury updates, 4/28/11 and 4/ 29/11. Available from: http://www.childrensal.org/body.cfm?id=1454. Accessed August 15, 2011. 11. National Oceanic and Atmospheric Administration Storm Prediction Center, Norman, Oklahoma. Tornado watch 235 watch hazard probabilities. Available from: http://www.spc.noaa.gov/products/watch/ ww0235_prob.html. Accessed August 1, 2011.
Vol. 161, No. 3 12. McCarthy DM, Chiampas GT, Malik S, Cole K, Lindeman P, Adams JG. Enhancing community disaster resilience through mass sporting events. Disaster Med Public Health Prep 2011;5: 310-5. 13. Bohn D, Kanter RK, Burns J, Barfield WD, Kissoon N. Supplies and equipment for pediatric emergency mass critical care. Pediatr Crit Care Med 2011;12:S120-7. 14. Kanter RK. Regional variation in critical care evacuation needs for children after a mass casualty incident. Disaster Med Public Health Prep 2012. in press. 15. Federal Emergency Management Agency. National response framework. Available from: http://www.fema.gov/emergency/nrf/. Accessed September 8, 2011.
50 Years Ago in THE JOURNAL OF PEDIATRICS Comparison of Serum Phenylalanine Levels with Growth in Guthrie’s Inhibition Assay in Newborn Infants Scheel C, Berry HK. J Pediatr 1962;61:610-6
S
cheel and Berry compare whole blood measurements of phenylalanine by using the bacterial inhibition assay developed by Guthrie with established procedures.1 They describe a 5% false-positive rate using the bacterial inhibition assay method and worry about the risk of false negatives, because the test depends on the infant’s ingestion of sufficient protein. They conclude that “Guthrie’s inhibition assay was probably not sensitive enough for use as a test for detection of phenylketonuria (PKU) in a nursery for newborn infants.” A year later, Guthrie would begin a pilot screening of 400 000 infants. In 1965, the American Academy of Pediatrics (AAP) Committee on Fetus and Newborn and the AAP Committee on the Handicapped Child recommended screening all infants for PKU,1,2 although the AAP Committee on the Handicapped Child cautioned that much was unknown.1 Despite these unknowns, 43 states passed mandatory legislation by 1968.3 Today, PKU is included in the universal newborn screening (NBS) programs in all states and many countries around the world. In the United States, NBS for PKU is now performed using tandem mass spectrometry, which can identify infants in the first day of life independent of protein ingestion. The heterogeneity of disease expression, lack of genotypic-phenotypic correlation, and large number of identified mutations are problems being seen with many genetic disorders that are being added to state NBS panels today.4 Parents, physicians, and policy analysts are active on both sides of the issue. Although PKU screening is now considered the gold standard for public health screening programs, the early history reminds us of the complexity of what was once considered a simple Mendelian genetic disorder. Lainie Friedman Ross, MD, PhD Department of Pediatrics University of Chicago Chicago, Illinois
References
http://dx.doi.org/10.1016/j.jpeds.2012.04.061
1. American Academy of Pediatrics, Committee on the Handicapped Child. Statement on treatment of phenylketonuria. Pediatrics 1965;35:501-3. 2. American Academy of Pediatrics, Committee on Fetus and Newborn. Screening of newborn infants for metabolic disease. Pediatrics 1965;35: 499-501. 3. National Research Council, Committee for the Study of Inborn Errors of Metabolism. Genetic screening: programs, principles and research. Washington, DC: National Academy of Sciences; 1975. 4. President’s Council on Bioethics. The changing moral focus of newborn screening. Washington, DC: US Government Printing Office; 2008.
530
Kanter