Resultados de pesquisa

Foram encontrados 2 registos.

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

To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort

Autor(es): McHugh, D.M.; Cameron, C.A.; Abdenur, J.E.; Vilarinho, L.; Zakowicz, W.M.; et al.

Datas: 2011-01-01

Base de dados: Repositório Científico do Instituto Nacional de Saúde

Ver detalhes de Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project (oai:repositorio.insa.pt:10400.18/1058)

Mais informação

Registo ou ficheiro original

Adicionar registo oai:repositorio.insa.pt:10400.18/1058 à minha lista

Adicionar à minha lista

Enhanced interpretation of newborn screening results without analyte cutoff values

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 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. RESULTS: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospe...

Autor(es): Marquardt, G.; Currier, R.; McHugh, D.M.; Gavrilov, D.; Magera, M.J.; Matern, D.; Oglesbee, D.; Raymond, K.; Rinaldo, P.; Smith, E.H.; Tortorelli, S.; Turgeon, C.T.; Lorey, F.; Wilcken, B.; Wiley, V.; Greed, L.C.; Lewis, B.; Boemer, F.; Schoos, R.; Marie, S.; Vincent, M.F.; Sica, Y.C.; Domingos, M.T.; Al-Thihli, K.; Sinclair, G.; Al-Dirbashi, O.Y.; Chakraborty, P.; Dymerski, M.; Porter, C.; Manning, A.; Seashore, M.R.; Quesada, J.; Reuben, A.; Chrastina, P.; Hornik, P.; Atef Mandour, I.; Atty Sharaf, S.A.; Bodamer, O.; Dy, B.; Torres, J.; Zori, R.; Cheillan, D.; Vianey-Saban, C.; Ludvigson, D.; Stembridge, A.; Bonham, J.; Downing, M.; Dotsikas, Y.; Loukas, Y.L.; Papakonstantinou, V.; Zacharioudakis, G.S.; Baráth, Á.; Karg, E.; Franzson, L.; Jonsson, J.J.; Breen, N.N.; Lesko, B.G.; Berberich, S.L.; Turner, K.; Ruoppolo, M.; Scolamiero, E.; Antonozzi, I.; Carducci, C.; Caruso, U.; Cassanello, M.; la Marca, G.; Pasquini, E.; Di Gangi, I.M.; Giordano, G.; Camilot, M.; Teofoli, F.; Manos, S.M.; Peterson, C.K.; Mayfield Gibson, S.K.; Sevier, D.W.; Lee, S.Y.; Park, H.D.; Khneisser, I.; Browning, P.; Gulamali-Majid, F.; Watson, M.S.; Eaton, R.B.; Sahai, I.; Ruiz, C.; Torres, R.; Seeterlin, S.M.A.; Stanley, E.L.; Hietala, A.; McCann, M.; Campbell, C.; Hopkins, P.V.; de Sain-Van der Velden, M.G.; Elvers, B.; Morrissey, M.A.; Sunny, S.; Knoll, D.; Webster, D.; Frazier, D.M.; McClure, J.D.; Sesser, D.E.; Willis, S.A.; Rocha, H.; Vilarinho, L.; John, C.; Lim, J.; Caldwell, S.G.; Tomashitis, K.; Castiñeiras Ramos, D.E.; Cocho de Juan, J.A.; Rueda Fernández, I.; Yahyaoui Macías, R.; Egea-Mellado, J.M.; González-Gallego, I.; Delgado Pecellin, C.; García-Valdecasas Bermejo, M.S.; Chien, Y.H.; Hwu, W.L.; Childs, T.; McKeever, C.D.; Tanyalcin, T.; Abdulrahman, M.; Queijo, C.; Lemes, A.; Davis, T.; Hoffman, W.; Baker, M.; Hoffman, G.L.

Datas: 2012-07-01