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52. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

Author

Scolamiero, Emanuela, primary, Cozzolino, Carla, additional, Albano, Lucia, additional, Ansalone, Antonella, additional, Caterino, Marianna, additional, Corbo, Graziella, additional, di Girolamo, Maria Grazia, additional, Di Stefano, Cristina, additional, Durante, Adriano, additional, Franzese, Giovanni, additional, Franzese, Ignazio, additional, Gallo, Giovanna, additional, Giliberti, Paolo, additional, Ingenito, Laura, additional, Ippolito, Giovanni, additional, Malamisura, Basilio, additional, Mazzeo, Pietro, additional, Norma, Antonella, additional, Ombrone, Daniela, additional, Parenti, Giancarlo, additional, Pellecchia, Silvana, additional, Pecce, Rita, additional, Pierucci, Ippolito, additional, Romanelli, Roberta, additional, Rossi, Anna, additional, Siano, Massimo, additional, Stoduto, Teodoro, additional, Villani, Guglielmo R. D., additional, Andria, Generoso, additional, Salvatore, Francesco, additional, Frisso, Giulia, additional, and Ruoppolo, Margherita, additional

Published
2015
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53. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M., UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M.

Abstract

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.

Published
2011

54. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, Zakowicz Wendy M., McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, and Zakowicz Wendy M.

Published
2011

60. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Author

Zollino, Marcella, primary, Di Stefano, Cristina, additional, Zampino, Giuseppe, additional, Mastroiacovo, Pierpaolo, additional, Wright, Tracy J., additional, Sorge, Giovanni, additional, Selicorni, Angelo, additional, Tenconi, Romano, additional, Zappal�, Alessandro, additional, Battaglia, Agatino, additional, Di Rocco, Maja, additional, Palka, Giandomenico, additional, Pallotta, Rosanna, additional, Altherr, Michael R., additional, and Neri, Giovanni, additional

Published
2000
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62. Una Práctica de Laboratorio Innovadora: Crecimiento y Caracterización de ZnS Puro y Dopado con Fe2+.

Author

Soriano, Rosario, González, Julián, Pellizzer, Mariano, and di Stefano, Cristina

Subjects
INORGANIC chemistry, MAGNETIC properties, X-ray diffraction, SOLAR cells, NANOCRYSTALS, ELECTRIC fields
Abstract

Copyright of Formación Universitaria is the property of Centro de Informacion Tecnologica (CIT) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2009
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63. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Author

Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M

Abstract

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field., PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

64. Peripheral Inflammatory Markers and Antioxidant Response during the Post-Acute and Chronic Phase after Severe Traumatic Brain Injury

Author

Marco Malaguti, Silvana Hrelia, Roberto Piperno, Elisa Porcellini, Ilaria Carbone, Laura Simoncini, Federico Licastro, Cristina Angeloni, Cristina Di Stefano, Licastro, Federico, Hrelia, Silvana, Porcellini, Elisa, Malaguti, Marco, Di Stefano, Cristina, Angeloni, Cristina, Carbone, Ilaria, Simoncini, Laura, and Piperno, Roberto

Subjects
0301 basic medicine, Traumatic Brain Injury, Antioxidant, Traumatic brain injury, medicine.medical_treatment, Inflammation, Disorders of consciousness, medicine.disease_cause, lcsh:RC346-429, Superoxide dismutase, cytokines plasma level, 03 medical and health sciences, 0302 clinical medicine, follow-up, medicine, Neuropsychological assessment, lcsh:Neurology. Diseases of the nervous system, Original Research, chemistry.chemical_classification, oxidative stre, biology, medicine.diagnostic_test, business.industry, Glutathione peroxidase, cognitive outcome, cytokines plasma levels, medicine.disease, Oxidative Stress, 030104 developmental biology, Neurology, chemistry, Immunology, biology.protein, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Oxidative stress, Neuroscience
Abstract

Traumatic brain injury (TBI) is a mechanical insult to the brain caused by external forces and associated with inflammation and oxidative stress. The patients may show different profiles of neurological recovery and a combination of oxidative damage and inflammatory processes can affect their courses. It is known that an overexpression of cytokines can be seen in peripheral blood in the early hours/days after the injury, but little is known about the weeks and months encompassing the post-acute and chronic phases. In addition, no information is available about the antioxidant responses mediated by the major enzymes that regulate reactive oxygen species levels: superoxide dismutase, catalase, peroxidases, and GSH-related enzymes. This study investigates the 6-month trends of inflammatory markers and antioxidant responses in 22 severe TBI patients with prolonged disorders of consciousness, consecutively recruited in a dedicated neurorehabilitation facility. Patients with a high degree of neurological impairment often show an uncertain outcome. In addition, the profiles of plasma activities were related to the neurological recovery after 12 months. Venous peripheral blood samples were taken blindly as soon as clinical signs and laboratory markers confirmed the absence of infections, 3 and 6 months later. The clinical and neuropsychological assessment continued up to 12 months. Nineteen patients completed the follow-up. In the chronic phase, persistent high plasma levels of cytokines can interfere with cognitive functioning and higher post-acute levels of cytokines [interferon (IFN)-γ, tumor necrosis factor (TNF)-α, IL1b, IL6] are associated with poorer cognitive recoveries 12 months later. Moreover, higher IFN-γ, higher TNF-α, and lower glutathione peroxidase activity are associated with greater disability. The results add evidence of persistent inflammatory response, provide information about long-term imbalance of antioxidant activity, and suggest that the over-production of cytokines and the alteration of the redox homeostasis in the post-acute phase might adversely affect the neurological and functional recovery. Inflammatory and antioxidant activity markers might offer a feasible way to highlight some of the processes opposing recovery after a severe TBI.

Published
2016
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65. Hypotensive episodes at 24-h Ambulatory Blood Pressure Monitoring predict adverse outcomes in Parkinson's Disease.

Author

Vallelonga F, Valente M, Tangari MM, Covolo A, Milazzo V, Di Stefano C, Sobrero G, Giudici M, Milan A, Veglio F, Lopiano L, Maule S, and Romagnolo A

Abstract

Purpose: Neurogenic orthostatic hypotension (nOH) is a frequent non-motor feature of Parkinson's disease (PD), associated with adverse outcomes. Recently, 24-hour ambulatory BP monitoring (ABPM) has been shown to diagnose nOH with good accuracy (in the presence of at least 2 episodes of systolic BP drop ≥ 15 mmHg compared to the average 24-h). This study aims at evaluating the prognostic role of ABPM-hypotensive episodes in predicting PD disability milestones and mortality and comparing it to well-defined prognostic role of nOH., Methods: PD patients who underwent ABPM from January 2012 to December 2014 were retrospectively enrolled and assessed for the development of falls, fractures, dementia, bed/wheelchair confinement, hospitalization, mortality, during an up-to-10-year follow-up., Results: Ninety-nine patients (male 74%; age: 64.0 ± 10.1 years; PD duration: 6.4 ± 4.0 years) were enrolled. At baseline, 38.4% of patients had ABPM-hypotensive episodes and 46.5% had bedside nOH.At Kaplan-Meier analysis patients with ABPM-hypotensive episodes had an earlier onset of falls (p = 0.001), fractures (p = 0.004), hospitalizations (p = 0.009), bed/wheelchair confinement (p = 0.032), dementia (p = 0.001), and showed a shorter survival (8.0vs9.5 years; p = 0.009). At Cox regression analysis (adjusted for age, disease duration, Charlson Comorbidity Index, and H&Y stage at baseline) a significant association was confirmed between ABPM-hypotensive episodes and falls (OR:3.626; p = 0.001), hospitalizations (OR:2.016; p = 0.038), and dementia (OR:2.926; p = 0.008), while bedside nOH was only associated with falls (OR 2.022; p = 0.039) and dementia (OR:1.908; p = 0.048)., Conclusion: The presence of at least two ABPM-hypotensive episodes independently predicted the development of falls, dementia, and hospitalization, showing a stronger prognostic value than the simple bedside assessment., Competing Interests: CONFLICT OF INTEREST Financial disclosure FVa, MV, MMT, AC, VM, CD, GS, MG, FVe, LL, SM: None AR: he received grant support and speaker honoraria from Abbvie, speaker honoraria from Chiesi Farmaceutici and travel grants from Lusofarmaco, ChiesiFarmaceutici, Medtronic, and UCB Pharma. AM: he received supported from the NIH (KL2 TR001426), speaker honoraria from CSL Behring, Abbvie, Abbott, Theravance and Cynapsus Therapeutics. He has received grant support from Lundbeck and Abbvie

Published
2024
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66. Neuropsychological changes and cranioplasty: A group analysis.

Author

Di Stefano C, Rinaldesi ML, Quinquinio C, Ridolfi C, Vallasciani M, Sturiale C, and Piperno R

Subjects
Adult, Aged, Brain Injuries surgery, Cognition physiology, Decompressive Craniectomy methods, Executive Function physiology, Female, Humans, Male, Middle Aged, Plastic Surgery Procedures methods, Skull surgery, Time Factors, Treatment Outcome, Brain Injuries rehabilitation, Decompressive Craniectomy adverse effects
Abstract

Background: Cranioplasty is the surgical answer to cranial defect due to decompressive craniectomy in order to increase patient's safety and for cosmetic reasons. Two main neurological sequelae of skull breaches have been described and cranioplasty has been suggested as a way to treat these neurological symptoms, but its effects on cognitive and motor functions are still unclear., Materials and Methods: In order to better elucidate if and to what extent the cranioplasty affects the whole array of cognitive functions or just some specific domains, 29 patients were studied pre- and post-cranioplasty, with structured assessments of memory, attention, language and executive functioning performed ~ 4 months and 1 month before cranioplasty and 1 month and 6 months after surgery., Results and Conclusion: Cranioplasty affects the cognitive profile with a non-specific pattern of change. Timing of the cranioplasty plays a key role to enucleate cognitive improvement, indeed greater cognitive changes were seen in patients who had cranioplasty within 6 months following the injury. Thus, cranioplasty must be considered a key factor in neuropsychological recovery and should be performed as soon as possible following the injury in order to take advantage of the window of opportunity for rehabilitation.

Published
2016
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67. Mortality and prognosis in patients with neurogenic orthostatic hypotension.

Author

Maule S, Milazzo V, Maule MM, Di Stefano C, Milan A, and Veglio F

Subjects
Adult, Aged, Aged, 80 and over, Autonomic Nervous System Diseases mortality, Comorbidity, Female, Humans, Hypotension, Orthostatic mortality, Male, Middle Aged, Multiple System Atrophy mortality, Parkinson Disease mortality, Prognosis, Retrospective Studies, Autonomic Nervous System Diseases epidemiology, Hypotension, Orthostatic epidemiology, Multiple System Atrophy epidemiology, Parkinson Disease epidemiology
Abstract

The prognosis of neurogenic orthostatic hypotension (NOH) has been poorly studied. The aim of this study was to evaluate retrospectively comorbidities and causes of death in patients with NOH. Clinical information and causes of death were obtained for 104 patients (45 with multiple system atrophy, 9 with pure autonomic failure, 43 with Parkinson's disease, and 7 with other types of autonomic neuropathy) referred to the Autonomic Unit from 1996 to 2009. Cardiovascular diseases (hypertension, cardiac comorbidities, atrial fibrillation and heart failure) were present in 53 (51%) NOH patients. At the end of follow-up, 44 patients were deceased. Type of NOH was the main factor associated with mortality. The main causes of death were infectious/respiratory (54%) and cardiac (16%). In NOH patients, cardiovascular diseases are frequent, although mortality is mainly due to infectious and respiratory causes. Detection of cardiovascular diseases may be useful in the choice of anti-hypotensive treatments.

Published
2012

68. Late recovery from post-traumatic vegetative state.

Author

Sancisi E, Battistini A, Di Stefano C, Simoncini L, Simoncini L, Montagna P, and Piperno R

Subjects
Accidents, Traffic, Activities of Daily Living psychology, Humans, Male, Persistent Vegetative State rehabilitation, Time Factors, Tomography, X-Ray Computed, Treatment Outcome, Young Adult, Persistent Vegetative State physiopathology, Recovery of Function physiology
Abstract

Aim: Late recovery of consciousness after 12 months in vegetative state is very rare and is almost invariably associated with severe disability. The aim of this study was to report that late recovery with moderate disability is possible, even after several months in vegetative state., Case Report: This study describes the case of a 22-year-old male student who recovered consciousness from vegetative state 19 months after a traumatic brain injury which had occurred in December 2000. A further slow recovery of motor and cognitive functions up to a moderate disability was observed over 7 years after the brain injury. The patient now lives in the community, speaks, walks and undertakes daily living as well as outdoor leisure activities independently, has resumed his previous university studies and has a part-time non-competitive job., Conclusions: This case demonstrates that attaining a condition of independent living is possible even after more than 1 year of post-traumatic vegetative state, with an improvement of motor and cognitive functions that can continue for years. Cranioplasty and long-term rehabilitation programmes may be among the variables potentially influencing this unexpected recovery.

Published
2009
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