Criterios de extracción de muestra en situaciones especiales del cribado neonatal. Revisión

Autor: Vanesa Escribano Hernández, Dolores Bóveda Fontán, Teresa Rodríguez, Raquel Yahyaoui Macías, Olaia Rodríguez Fraga, Hugo Rocha, Rosa María López Galera, José Luis Marín Soria, Dolores Rausell Felix, María Magdalena Vila Vidal, Yolanda González Irazabal, José María Egea Mellado, Carmen Delgado Pecellín, Daisy E. Castiñeiras Ramos

Publikováno v: Revista del Laboratorio Clínico. 12:189-195

Resumen La espectrometria de masas en tandem (MS-MS) ha permitido ampliar el alcance del cribado neonatal. Eso hace mas complicado determinar el momento mas adecuado para la toma de muestra, sobre todo en recien nacidos prematuros y/o bajo peso y/o i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b0fb635bf04e6c52be9fd2f21246467a
https://doi.org/10.1016/j.labcli.2019.01.006

Enhanced interpretation of newborn screening results without analyte cutoff values

Autor: Gregg Marquardt 1, Robert Currier, PhD 2, David M. S. McHugh 1, Dimitar Gavrilov, PhD 1, Mark J. Magera 1, Dietrich Matern, MD 1, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman T. Turgeon 1, Fred Lorey, Bridget Wilcken, MD 3, Veronica Wiley, PhD 3, Lawrence C. Greed, BSc 4, Barry Lewis, MD 4, François Boemer, PharmD PhD 5, Roland Schoos, PhD 5, Sandrine Marie, PhD 6, Marie Françoise Vincent, Yuri Cleverthon Sica, Msc 7, Mouseline Torquado Domingos 7, Khalid Al Thihli, MD 8, Graham Sinclair, PhD 8, Osama Y. Al Dirbashi, PhD 9, Pranesh Chakraborty, MD 9, Mark Dymerski 10, Cory Porter 10, Adrienne Manning, Margretta R. Seashore, MD 12, Jonessy Quesada, MD 13, Alejandra Reuben 13, Petr Chrastina, MSc 14, Petr Hornik, PhD 14, Iman Atef Mandour, MD 15, Sahar Abdel Atty Sharaf, Olaf Bodamer, PhD 16, Bonifacio Dy, MD 17, Jasmin Torres 17, Roberto Zori, MD 18, David Cheillan, PhD 19, Christine Vianey Saban, David Ludvigson 20, Adrya Stembridge 21, Jim Bonham, PhD 22, Melanie Downing, Msc 22, Yannis Dotsikas, PhD 23, Yannis L. Loukas, Vagelis Papakonstantinou, PhD 24, Georgios S. A. Zacharioudakis, Ákos Baráth, PhD 25, Eszter Karg, Leifur Franzson, PhD 26, Jon J. Jonsson, Nancy N. Breen 27, Barbara G. Lesko 27, Stanton L. Berberich, PhD 28, Kimberley Turner, RN 29, MD 30, Emanuela Scolamiero 30, Italo Antonozzi, MD 31, Claudia Carducci, MS 31, Ubaldo Caruso 32, Michela Cassanello 32, Giancarlo la Marca, Pharm Sc 33, Elisabetta Pasquini, MD 34, Iole Maria Di Gangi, PhD 35, Giuseppe Giordano, Marta Camilot, PhD 36, Francesca Teofoli 36, Shawn M. Manos, BS 37, Colleen K. Peterson, Stephanie K. Mayfield Gibson, MD 38, Darrin W. Sevier 38, Soo Youn Lee, PhD 39, Hyung2 Doo Park, Issam Khneisser, MS 40, Phaidra Browning 41, Fizza Gulamali Majid, PhD 42, Michael S. Watson, PhD 43, Roger B. Eaton, PhD 44, Inderneel Sahai, MD 44, Consuelo Ruiz 45, Rosario Torres 45, Mary A. Seeterlin, PhD 46, Eleanor L. Stanley 46, Amy Hietala 47, Mark McCann 47, Carlene Campbell 48, Patrick V. Hopkins 48, Monique G. de Sain Van der Velden, PhD 49, Bert Elvers 50, Mark A. Morrissey, PhD 51, Sherlykutty Sunny 51, Detlef Knoll, MSc 52, Dianne Webster, PhD 52, Dianne M. Frazier, PhD 53, Julie D. McClure, MPH 53, David E. Sesser 54, Sharon A. Willis 54, Hugo Rocha, Msc 55, Laura Vilarinho, PhD 55, Catharine John, PhD 56, James Lim, S. Graham Caldwell 57, Kathy Tomashitis, MNS 57, Daisy E. Castiñeiras Ramos 58, Jose Angel Cocho de Juan, PhD 58, Inmaculada Rueda Fernández, MD 59, Raquel Yahyaoui Macías, José María Egea Mellado 60, Inmaculada González Gallego, PhD 60, Carmen Delgado Pecellin, PhD 61, Maria Sierra García Valdecasas Bermejo, Yin Hsiu Chien, PhD 62, Wuh Liang Hwu, Thomas Childs, MT 63, Christine D. McKeever 63, Tijen Tanyalcin, PhD 64, Mahera Abdulrahman, PhD 65, Cecilia Queijo, PhD 66, Aída Lemes, MD 66, Tim Davis 67, William Hoffman 67, Mei Baker, MD 68, Gary L. Hoffman 6.8., RUOPPOLO, MARGHERITA

A collaboration among 157 newborn screening programs in 47 countries has lead to the creation of a database of 705,333 discrete analyte concentrations from 11,462 cases affected with 57 metabolic disorders, and from 631 heterozygotes for 12 condition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::dfa15fc0545603c550ef053eb448d9c3
http://hdl.handle.net/11588/464388

The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity

Autor: Laura Pérez-Gay, Santiago Rodríguez-Segade, Manuel Castro-Gago, Carmen Gómez-Lado, Santiago Otero-Martínez, Daisy E. Castiñeiras-Ramos

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

We determined the serum concentration of biotin, zinc, antiepileptic drugs, and biotinidase enzyme activity in 20 children treated with valproic acid, in 10 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c828eb11020eb180b374ceaef153ad69
http://hdl.handle.net/20.500.11940/5548

Enhanced interpretation of newborn screening results without analyte cutoff values

Autor: Carlene Campbell, Nancy N. Breen, Silvia Tortorelli, Yin-Hsiu Chien, Carmen Delgado Pecellin, Kathy Tomashitis, Sahar A. Sharaf, Olaf Bodamer, Claudia Carducci, Veronica Wiley, Phaidra Browning, José María Egea-Mellado, Gregg Marquardt, Daisy E. Castiñeiras Ramos, Hugo Rocha, Hyung-Doo Park, Francesca Teofoli, Osama Y. Al-Dirbashi, Jon J. Jonsson, Michael S. Watson, Gary Hoffman, Petr Chrastina, Elisabetta Pasquini, Inmaculada González-Gallego, Mark McCann, David Cheillan, Jonessy Quesada, Sandrine Marie, Christine D. McKeever, Christine Vianey-Saban, Kimiyo Raymond, Adrienne Manning, Raquel Yahyaoui Macías, Patrick V. Hopkins, Dimitar Gavrilov, Stephanie K. Mayfield Gibson, James Lim, Leifur Franzson, Mark Dymerski, S. Graham Caldwell, Barry Lewis, Yannis L. Loukas, Soo-Youn Lee, Italo Antonozzi, Dietrich Matern, Marie-Françoise Vincent, William Hoffman, Stanton L. Berberich, Marta Camilot, James R. Bonham, Piero Rinaldo, Ákos Baráth, Mahera Abdulrahman, Ubaldo Caruso, Graham Sinclair, Aida Lemes, Tijen Tanyalcin, Catharine John, Eszter Karg, François Boemer, Emanuela Scolamiero, David M.S. McHugh, Shawn M. Manos, Pranesh Chakraborty, Inderneel Sahai, Julie McClure, David Ludvigson, Coleman T. Turgeon, Giuseppe Giordano, Petr Hornik, Thomas A. Childs, Mouseline Torquado Domingos, Amy Hietala, Dianne M. Frazier, Emily H. Smith, Sherlykutty Sunny, Roland Schoos, Inmaculada Rueda Fernández, Georgios S.A. Zacharioudakis, Lawrence Greed, Darrin W. Sevier, M. Downing, Vagelis Papakonstantinou, Yannis Dotsikas, Issam Khneisser, Khalid Al-Thihli, Alejandra Reuben, Tim Davis, Roger B. Eaton, Iman Atef Mandour, Mark J. Magera, Barbara G. Lesko, Michela Cassanello, Bert Elvers, Fred Lorey, Mary Seeterlin, Wuh-Liang Hwu, Jose Angel Cocho de Juan, Bridget Wilcken, Mark A. Morrissey, Cecilia Queijo, Robert Currier, Maria Sierra García Valdecasas Bermejo, Mei W. Baker, Consuelo Ruiz, Margretta R. Seashore, Colleen K. Peterson, Adrya Stembridge, Rosario Torres, Yuri Cleverthon Sica, David E. Sesser, Kimberley Turner, Margherita Ruoppolo, Devin Oglesbee, Cory Porter, Fizza Gulamali-Majid, Dianne Webster, Sharon A. Willis, Bonifacio Dy, Iole Maria Di Gangi, Jasmin Torres, Monique G. de Sain–Van der Velden, Giancarlo la Marca, Eleanor Stanley, Detlef Knoll, Laura Vilarinho, Roberto T. Zori

Publikováno v: Università degli studi di Firenze-IRIS

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 condi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e36d954bb0dfa97b0d4e606e52fa32
https://flore.unifi.it/handle/2158/676511