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2. Including ELSI research questions in newborn screening pilot studies

Author

Goldenberg, Aaron J., Lloyd-Puryear, Michele, Brosco, Jeffrey P., Therrell, Bradford, Bush, Lynn, Berry, Susan, Brower, Amy, Bonhomme, Natasha, Bowdish, Bruce, Chrysler, Denise, Clarke, Angus, Crawford, Thomas, Goldman, Edward, Hiner, Sally, Howell, R. Rodney, Orren, David, Wilfond, Benjamin S., Watson, Michael, and for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network

Published
2019
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18. We need expanded newborn screening

Author

Howell, R. Rodney

Subjects
Health care industry, Health care industry -- Services, Infants (Newborn) -- Health aspects
Abstract

FOR many conditions, when newborn screening detects an abnormality that can be effectively treated, it can make the difference between a healthy life and one that requires long-term care. For [...]

Published
2006

19. Celebrating 50 years of newborn screening: newborn screening programs have greatly expanded over the past five decades, leading to the system being recognized as one of the most successful public health programs in the country. Through this program, thousands of babies' lives have been saved

Author

Lloyd-Puryear, Michele A., Vockley, Cate Walsh, Levy-Fisch, Jill, Camp, Kathryn, Therrell, Bradford L., and Howell, R. Rodney

Subjects
Infants (Newborn) -- Medical examination, Anniversaries, Consumer news and advice, Education, Family and marriage, Health
Abstract

What is Newborn Screening? Your baby has arrived and what an exciting event! While you are getting to know the newest member of your family, many things are happening in [...]

Published
2013

20. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Author

Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, and Nelson, Stanley F.

Published
2019
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22. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Author

Glascock, Jacqueline, primary, Sampson, Jacinda, additional, Connolly, Anne M., additional, Darras, Basil T., additional, Day, John W., additional, Finkel, Richard, additional, Howell, R. Rodney, additional, Klinger, Katherine W., additional, Kuntz, Nancy, additional, Prior, Thomas, additional, Shieh, Perry B., additional, Crawford, Thomas O., additional, Kerr, Douglas, additional, and Jarecki, Jill, additional

Published
2020
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24. Systems to determine treatment effectiveness in newborn screening.

Author

Howell, R. Rodney

Subjects
Genetic disorders -- Care and treatment, Infants (Newborn) -- Medical examination
Abstract

DR. HOWELL: Max, thank you, very much. It's my pleasure to be here today to talk about newborn screening with this distinguished group of LC researchers and clinicians. This afternoon, [...]

Published
2009

28. Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening

Author

Baker, Mei, primary, Griggs, Robert, additional, Byrne, Barry, additional, Connolly, Anne M., additional, Finkel, Richard, additional, Grajkowska, Lucja, additional, Haidet-Phillips, Amanda, additional, Hagerty, Laura, additional, Ostrander, Robert, additional, Orlando, Lianna, additional, Swoboda, Kathryn, additional, Watson, Michael, additional, and Howell, R. Rodney, additional

Published
2019
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30. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

Author

Glascock, Jacqueline, primary, Sampson, Jacinda, additional, Haidet-Phillips, Amanda, additional, Connolly, Anne, additional, Darras, Basil, additional, Day, John, additional, Finkel, Richard, additional, Howell, R. Rodney, additional, Klinger, Katherine, additional, Kuntz, Nancy, additional, Prior, Thomas, additional, Shieh, Perry B., additional, Crawford, Thomas O., additional, Kerr, Douglas, additional, and Jarecki, Jill, additional

Published
2018
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32. Phenylketonuria Scientific Review Conference:State Of The Science And Future Research Needs

Author

Camp, Kathryn M., Parisi, Melissa A., Acosta, Phyllis B., Berry, Gerard T., Bilder, Deborah A., Blau, Nenad, Bodamer, Olaf A., Brosco, Jeffrey P., Brown, Christine S., Burlina, Alberto B., Burton, Barbara K., Chang, Christine S., Coates, Paul M., Cunningham, Amy C., Dobrowolski, Steven F., Ferguson, John H., Franklin, Thomas D., Frazier, Dianne M., Grange, Dorothy K., Greene, Carol L., Groft, Stephen C., Harding, Cary O., Howell, R. Rodney, Huntington, Kathleen L., Hyatt-Knorr, Henrietta D., Jevaji, Indira P., Levy, Harvey L., Lichter-Konecki, Uta, Lindegren, Mary Lou, Lloyd-Puryear, Michele A., Matalon, Kimberlee, MacDonald, Anita, McPheeters, Melissa L., Mitchell, John J., Mofidi, Shideh, Moseley, Kathryn D., Mueller, Christine M., Mulberg, Andrew E., Nerurkar, Lata S., Ogata, Beth N., Pariser, Anne R., Prasad, Suyash, Pridjian, Gabriella, Rasmussen, Sonja A., Reddy, Uma M., Rohr, Frances J., Singh, Rani H., Sirrs, Sandra M., Stremer, Stephanie E., Tagle, Danilo A., Thompson, Susan M., Urv, Tiina K., Utz, Jeanine R., van Spronsen, Francjan, Vockley, Jerry, Waisbren, Susan E., Weglicki, Linda S., White, Desiree A., Whitley, Chester B., Wilfond, Benjamin S., Yannicelli, Steven, and Young, Justin M.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases
Abstract

New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 Rtnol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 [tmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism.

Published
2014
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33. CDC grand rounds: newborn screening and improved outcomes

Author

Howell, R. Rodney, Terry, Sharon, Tait, Vera F., Olney, Richard, Hinton, Cynthia F., Grosse, Scott, Eichwald, John, Cuthbert, Carla, Popovic, Tanja, and Glidewell, Jill

Subjects
United States. Health Resources and Services Administration, Infants (Newborn) -- Patient outcomes, Medical screening, Health
Abstract

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal conditions, such as hearing loss and certain genetic, endocrine, and metabolic disorders that typically are [...]

Published
2012

37. Phenylketonuria Scientific Review Conference: State of the science and future research needs

Author

Camp, Kathryn M., primary, Parisi, Melissa A., additional, Acosta, Phyllis B., additional, Berry, Gerard T., additional, Bilder, Deborah A., additional, Blau, Nenad, additional, Bodamer, Olaf A., additional, Brosco, Jeffrey P., additional, Brown, Christine S., additional, Burlina, Alberto B., additional, Burton, Barbara K., additional, Chang, Christine S., additional, Coates, Paul M., additional, Cunningham, Amy C., additional, Dobrowolski, Steven F., additional, Ferguson, John H., additional, Franklin, Thomas D., additional, Frazier, Dianne M., additional, Grange, Dorothy K., additional, Greene, Carol L., additional, Groft, Stephen C., additional, Harding, Cary O., additional, Howell, R. Rodney, additional, Huntington, Kathleen L., additional, Hyatt-Knorr, Henrietta D., additional, Jevaji, Indira P., additional, Levy, Harvey L., additional, Lichter-Konecki, Uta, additional, Lindegren, Mary Lou, additional, Lloyd-Puryear, Michele A., additional, Matalon, Kimberlee, additional, MacDonald, Anita, additional, McPheeters, Melissa L., additional, Mitchell, John J., additional, Mofidi, Shideh, additional, Moseley, Kathryn D., additional, Mueller, Christine M., additional, Mulberg, Andrew E., additional, Nerurkar, Lata S., additional, Ogata, Beth N., additional, Pariser, Anne R., additional, Prasad, Suyash, additional, Pridjian, Gabriella, additional, Rasmussen, Sonja A., additional, Reddy, Uma M., additional, Rohr, Frances J., additional, Singh, Rani H., additional, Sirrs, Sandra M., additional, Stremer, Stephanie E., additional, Tagle, Danilo A., additional, Thompson, Susan M., additional, Urv, Tiina K., additional, Utz, Jeanine R., additional, van Spronsen, Francjan, additional, Vockley, Jerry, additional, Waisbren, Susan E., additional, Weglicki, Linda S., additional, White, Desirée A., additional, Whitley, Chester B., additional, Wilfond, Benjamin S., additional, Yannicelli, Steven, additional, and Young, Justin M., additional

Published
2014
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39. Newborn screening resources

Author

Feero, Greg and Howell, R. Rodney

Subjects
Infants (Newborn) -- Diseases, Infants (Newborn) -- Genetic aspects, Health, Health care industry
Abstract

Technological advances in recent years have made it possible for newborn infants in the United States to be screened for more than two dozen conditions. The first genetic screen for [...]

Published
2009

40. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Author

Camp, Kathryn M., primary, Lloyd-Puryear, Michele A., additional, Yao, Lynne, additional, Groft, Stephen C., additional, Parisi, Melissa A., additional, Mulberg, Andrew, additional, Gopal-Srivastava, Rashmi, additional, Cederbaum, Stephen, additional, Enns, Gregory M., additional, Ershow, Abby G., additional, Frazier, Dianne M., additional, Gohagan, John, additional, Harding, Cary, additional, Howell, R. Rodney, additional, Regan, Karen, additional, Stacpoole, Peter W., additional, Venditti, Charles, additional, Vockley, Jerry, additional, Watson, Michael, additional, and Coates, Paul M., additional

Published
2013
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43. Committee Report: Considerations and Recommendations for National Guidance Regarding the Retention and Use of Residual Dried Blood Spot Specimens After Newborn Screening

Author

Therrell, Bradford L., primary, Hannon, W. Harry, additional, Bailey, Donald B., additional, Goldman, Edward B., additional, Monaco, Jana, additional, Norgaard-Pedersen, Bent, additional, Terry, Sharon F., additional, Johnson, Alissa, additional, and Howell, R. Rodney, additional

Published
2011
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45. Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening

Author

Therrell Jr, Bradford L., primary, Hannon, W. Harry, additional, Bailey Jr, Donald B., additional, Goldman, Edward B., additional, Monaco, Jana, additional, Norgaard-Pedersen, Bent, additional, Terry, Sharon F., additional, Johnson, Alissa, additional, and Howell, R. Rodney, additional

Published
2011
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49. Continuing lessons from glycogen storage diseases

Author

Howell, R. Rodney

Subjects
Liver -- Transplantation, Metabolism, Inborn errors of -- Case studies, Glycogenosis -- Case studies, Liver -- Physiological aspects
Abstract

Glycogen storage disorders were among the first inherited metabolic disorders to be identified, since it was possible to microscopically observe the accumulation of glycogen in body tissues obtained at autopsy. The development of more sophisticated chemical analysis, as well as the development of the electron microscope, permitted the more detailed classification of glycogen storage diseases, and now 10 distinct inherited abnormalities of glycogen storage are recognized. In the January 3, 1991 issue of The New England Journal of Medicine, researchers report on the use of liver transplantation in the treatment of Type IV glycogen storage disease. This disorder, also called Andersen's disease and amylopectinosis, results when the deficiency of a particular enzyme changes the molecular structure of glycogen. Rather than a repeatedly branching structure, the glycogen has a more straight structure, which resembles starch, and is far less soluble than glycogen. This insoluble glycogen accumulates not only in the liver, but in muscle and other tissues as well. Death usually results from liver failure early in life. It might be anticipated that liver transplantation would improve survival. However, since the enzyme causing the disorder remains defective in the muscles and the heart, it might also be expected that progression of the glycogen storage disorder would continue in other tissues, and the patient would die of heart failure. It is startling to find that this did not occur in the five long-term survivors of liver transplantation. Not only did the abnormal glycogen storage in muscle not progress, but it actually seemed to abate. In one case, the patient remains alive 73 months after surgery, far longer than he would otherwise be expected to survive. Since all the transplant patients were treated with immunosuppressive drugs, it is not impossible that these drugs exerted a beneficial effect on abnormal glycogen storage in other tissues. However, it is also possible that the normal enzyme being produced in the donated liver in some way favorably affected other organs and tissues as well. Although it is uncertain how this might occur, the observations of these patients may prove to be very important in the development of therapies for patients with many other sorts of enzyme deficiencies. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

50. Carrier testing for spinal muscular atrophy

Author

Gitlin, Jonathan M, primary, Fischbeck, Kenneth, additional, Crawford, Thomas O., additional, Cwik, Valerie, additional, Fleischman, Alan, additional, Gonye, Karla, additional, Heine, Deborah, additional, Hobby, Kenneth, additional, Kaufmann, Petra, additional, Keiles, Steven, additional, MacKenzie, Alex, additional, Musci, Thomas, additional, Prior, Thomas, additional, Lloyd-Puryear, Michele, additional, Sugarman, Elaine A., additional, Terry, Sharon F., additional, Urv, Tiina, additional, Wang, Ching, additional, Watson, Michael, additional, Yaron, Yuval, additional, Frosst, Phyllis, additional, and Howell, R. Rodney, additional

Published
2010
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