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

Author

Mchugh, Dm, Cameron, Ca, Abdenur, Je, Abdulrahman, M., Adair, O., Al Nuaimi SA, Åhlman, H., Allen, Jj, Antonozzi, I., Archer, S., Au, S., Auray Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, Gb, Berberich, Sl, Binard, R., Boemer, F., Bonham, J., Breen, Nn, Bryant, Sc, Caggana, M., Caldwell, Sg, Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, Am, Ramos, De, Chakraborty, P., Chandrasekar, R., Ramos, Ac, Cheillan, D., Chien, Yh, Childs, Ta, Chrastina, P., Sica, Yc, de Juan JA, Colandre, Me, Espinoza, Vc, Corso, G., Currier, R., Cyr, D., Czuczy, N., D Apolito, O., Davis, T., de Sain Van der Velden MG, Delgado Pecellin, C., Di Gangi IM, Di Stefano CM, Dotsikas, Y., Downing, M., Downs, Sm, Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, Bm, El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, Kf, Fisher, L., Franzson, L., Frazier, Dm, Garcia, Lr, Bermejo, Ms, Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Yg, Greed, Lc, Grier, R., Grycki, E., Gu, X., Gulamali Majid, F., Hagar, Af, Han, L., Hannon, Wh, Haslip, C., Hassan, Fa, He, M., Hietala, A., Himstedt, L., Hoffman, Gl, Hoffman, W., Hoggatt, P., Hopkins, Pv, Hougaard, Dm, Hughes, K., Hunt, Pr, Hwu, Wl, Hynes, J., Ibarra González, I., Ingham, Ca, Ivanova, M., Jacox, Wb, John, C., Johnson, Jp, Jónsson, Jj, Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., giancarlo la marca, Lavochkin, M., Lee, Sy, Lehotay, Dc, Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd Puryear MA, Lorey, F., Loukas, Yl, Luedtke, J., Maffitt, N., Magee, Jf, Manning, A., Manos, S., Marie, S., Hadachi, Sm, Marquardt, G., Martin, Sj, Matern, D., Mayfield Gibson SK, Mayne, P., Mccallister, Td, Mccann, M., Mcclure, J., Mcgill, Jj, Mckeever, Cd, Mcneilly, B., Morrissey, Ma, Moutsatsou, P., Mulcahy, Ea, Nikoloudis, D., Norgaard Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, Sp, Park, Hd, Pasquali, M., Pasquini, E., Patel, P., Pass, Ka, Peterson, C., Pettersen, Rd, Pitt, Jj, Poh, S., Pollak, A., Porter, C., Poston, Pa, Price, Rw, Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, Je, Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, Jd, Roberts, A., Rocha, H., Roche, G., Greenberg, Cr, Mellado, Jm, Juan Fita MJ, Ruiz, C., Ruoppolo, M., Rutledge, Sl, Ryu, E., Saban, C., Sahai, I., García Blanco MI, Santiago Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G., Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, Jr, Tomashitis, K., Domingos, Mt, Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, Ag, Vallance, H., Vela Amieva, M., Vilarinho, L., Döbeln, U., Vincent, Mf, Vorster, Bc, Watson, Ms, Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, Sk, Willis, Sa, Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., Zakowicz, W. M., Mchugh, D, Cameron, Ca, Abdenur, Je, Abdulrahman, M, Adair, O, Al Nuaimi, Sa, Åhlman, H, Allen, Jj, Antonozzi, I, Archer, S, Au, S, Auray Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, Gb, Berberich, Sl, Binard, R, Boemer, F, Bonham, J, Breen, Nn, Bryant, Sc, Caggana, M, Caldwell, Sg, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, Am, Ramos, De, Chakraborty, P, Chandrasekar, R, Ramos, Ac, Cheillan, D, Chien, Yh, Childs, Ta, Chrastina, P, Sica, Yc, de Juan, Ja, Colandre, Me, Espinoza, Vc, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain Van der Velden, Mg, Delgado Pecellin, C, Di Gangi, Im, Di Stefano, Cm, Dotsikas, Y, Downing, M, Downs, Sm, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, Bm, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, Kf, Fisher, L, Franzson, L, Frazier, Dm, Garcia, Lr, Bermejo, M, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, Yg, Greed, Lc, Grier, R, Grycki, E, Gu, X, Gulamali Majid, F, Hagar, Af, Han, L, Hannon, Wh, Haslip, C, Hassan, Fa, He, M, Hietala, A, Himstedt, L, Hoffman, Gl, Hoffman, W, Hoggatt, P, Hopkins, Pv, Hougaard, Dm, Hughes, K, Hunt, Pr, Hwu, Wl, Hynes, J, Ibarra González, I, Ingham, Ca, Ivanova, M, Jacox, Wb, John, C, Johnson, Jp, Jónsson, Jj, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, Sy, Lehotay, Dc, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd Puryear, Ma, Lorey, F, Loukas, Yl, Luedtke, J, Maffitt, N, Magee, Jf, Manning, A, Manos, S, Marie, S, Hadachi, Sm, Marquardt, G, Martin, Sj, Matern, D, Mayfield Gibson, Sk, Mayne, P, Mccallister, Td, Mccann, M, Mcclure, J, Mcgill, Jj, Mckeever, Cd, Mcneilly, B, Morrissey, Ma, Moutsatsou, P, Mulcahy, Ea, Nikoloudis, D, Norgaard Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, Sp, Park, Hd, Pasquali, M, Pasquini, E, Patel, P, Pass, Ka, Peterson, C, Pettersen, Rd, Pitt, Jj, Poh, S, Pollak, A, Porter, C, Poston, Pa, Price, Rw, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, Je, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, Jd, Roberts, A, Rocha, H, Roche, G, Greenberg, Cr, Mellado, Jm, Juan Fita, Mj, Ruiz, C, Ruoppolo, Margherita, Rutledge, Sl, Ryu, E, Saban, C, Sahai, I, García Blanco, Mi, Santiago Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G, Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, Jr, Tomashitis, K, Domingos, Mt, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, Ag, Vallance, H, Vela Amieva, M, Vilarinho, L, von Döbeln, U, Vincent, Mf, Vorster, Bc, Watson, M, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, Sk, Willis, Sa, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, and Zakowicz, W. M.

Subjects
Analyte, Percentile, Pediatrics, medicine.medical_specialty, International Cooperation, tandem mass spectrometry, amino acids, newborn screening, inborn errors of metabolism, acylcarnitines, Tandem mass spectrometry, Sensitivity and Specificity, Neonatal Screening, Metabolic Diseases, Reference Values, Carnitine, Range (statistics), Humans, Medicine, Cutoff, Clinical significance, Genetics (clinical), mass spectrometry, Newborn screening, business.industry, Infant, Newborn, Biochemistry, False positive rate, business, Software, metabolic disorders, newborn screening
Abstract

Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass 215 spectrometry through a worldwide collaboration. Methods: Cumulative percentiles of amino 216 acids and acylcarnitines in dried blood spots of approximately 30 million normal newborns and 217 10,615 true positive cases are compared to assign clinical significance, which is achieved when 218 the median of a disease range is either >99%ile or

Published
2011
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3. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh, D.M.S. Cameron, C.A. Abdenur, J.E. Abdulrahman, M. Adair, O. Al Nuaimi, S.A. Åhlman, H. Allen, J.J. Antonozzi, I. Archer, S. Au, S. Auray-Blais, C. Baker, M. Bamforth, F. Beckmann, K. Pino, G.B. Berberich, S.L. Binard, R. Boemer, F. Bonham, J. Breen, N.N. Bryant, S.C. Caggana, M. Caldwell, S.G. Camilot, M. Campbell, C. Carducci, C. Cariappa, R. Carlisle, C. Caruso, U. Cassanello, M. Castilla, A.M. Ramos, D.E.C. Chakraborty, P. Chandrasekar, R. Ramos, A.C. Cheillan, D. Chien, Y.-H. Childs, T.A. Chrastina, P. Sica, Y.C. Cocho De Juan, J.A. Colandre, M.E. Espinoza, V.C. Corso, G. Currier, R. Cyr, D. Czuczy, N. D'Apolito, O. Davis, T. De Sain-Van Der Velden, M.G. Pecellin, C.D. Di Gangi, I.M. Di Stefano, C.M. Dotsikas, Y. Downing, M. Downs, S.M. Dy, B. Dymerski, M. Rueda, I. Elvers, B. Eaton, R. Eckerd, B.M. El Mougy, F. Eroh, S. Espada, M. Evans, C. Fawbush, S. Fijolek, K.F. Fisher, L. Franzson, L. Frazier, D.M. Garcia, L.R.C. Bermejo, M.S.G.-V. Gavrilov, D. Gerace, R. Giordano, G. Irazabal, Y.G. Greed, L.C. Grier, R. Grycki, E. Gu, X. Gulamali-Majid, F. Hagar, A.F. Han, L. Hannon, W.H. Haslip, C. Hassan, F.A. He, M. Hietala, A. Himstedt, L. Hoffman, G.L. Hoffman, W. Hoggatt, P. Hopkins, P.V. Hougaard, D.M. Hughes, K. Hunt, P.R. Hwu, W.-L. Hynes, J. Ibarra-González, I. Ingham, C.A. Ivanova, M. Jacox, W.B. John, C. Johnson, J.P. Jónsson, J.J. Karg, E. Kasper, D. Klopper, B. Katakouzinos, D. Khneisser, I. Knoll, D. Kobayashi, H. Koneski, R. Kožich, V. Kouapei, R. Kohlmueller, D. Kremensky, I. La Marca, G. Lavochkin, M. Lee, S.-Y. Lehotay, D.C. Lemes, A. Lepage, J. Lesko, B. Lewis, B. Lim, C. Linard, S. Lindner, M. Lloyd-Puryear, M.A. Lorey, F. Loukas, Y.L. Luedtke, J. Maffitt, N. Magee, J.F. Manning, A. Manos, S. Marie, S. Hadachi, S.M. Marquardt, G. Martin, S.J. Matern, D. Gibson, S.K.M. Mayne, P. McCallister, T.D. McCann, M. McClure, J. McGill, J.J. McKeever, C.D. McNeilly, B. Morrissey, M.A. Moutsatsou, P. Mulcahy, E.A. Nikoloudis, D. Norgaard-Pedersen, B. Oglesbee, D. Oltarzewski, M. Ombrone, D. Ojodu, J. Papakonstantinou, V. Reoyo, S.P. Park, H.-D. Pasquali, M. Pasquini, E. Patel, P. Pass, K.A. Peterson, C. Pettersen, R.D. Pitt, J.J. Poh, S. Pollak, A. Porter, C. Poston, P.A. Price, R.W. Queijo, C. Quesada, J. Randell, E. Ranieri, E. Raymond, K. Reddic, J.E. Reuben, A. Ricciardi, C. Rinaldo, P. Rivera, J.D. Roberts, A. Rocha, H. Roche, G. Greenberg, C.R. Mellado, J.M.E. Juan-Fita, M.J. Ruiz, C. Ruoppolo, M. Rutledge, S.L. Ryu, E. Saban, C. Sahai, I. García-Blanco, M.I.S. Santiago-Borrero, P. Schenone, A. Schoos, R. Schweitzer, B. Scott, P. Seashore, M.R. Seeterlin, M.A. Sesser, D.E. Sevier, D.W. Shone, S.M. Sinclair, G. Skrinska, V.A. Stanley, E.L. Strovel, E.T. Jones, A.L.S. Sunny, S. Takats, Z. Tanyalcin, T. Teofoli, F. Thompson, J.R. Tomashitis, K. Domingos, M.T. Torres, J. Torres, R. Tortorelli, S. Turi, S. Turner, K. Tzanakos, N. Valiente, A.G. Vallance, H. Vela-Amieva, M. Vilarinho, L. Von Döbeln, U. Vincent, M.-F. Vorster, B.C. Watson, M.S. Webster, D. Weiss, S. Wilcken, B. Wiley, V. Williams, S.K. Willis, S.A. Woontner, M. Wright, K. Yahyaoui, R. Yamaguchi, S. Yssel, M. Zakowicz, W.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

7. Production of IL-5 and granulocyte-macrophage colony-stimulating factor by naive human mast cells activated by high-affinity IgE receptor ligation

Author

Bressler, R.B., Lesko^b, J., Jones^b, M.L., Wasserman^b, M., Dickason, R.R., Huston, M.M., Cook, S.W., and Huston, D.P.

Abstract

Background: The late-phase allergic reaction is an eosinophilic inflammatory response that begins several hours after allergen exposure, may persist for 24 hours, and is an important pathogenic mechanism in allergic disease. Objective: Cultured naive human mast cells were used to investigate whether mast cells are a direct source of the eosinophil-promoting cytokines IL-5, IL-3, and granulocyte-macrophage colony-stimulating factor (GM-CSF). Methods: Naive human mast cells were derived from bone marrow mononuclear cells cultured in the presence of stem-cell factor. Cytokine message and protein production in response to high-affinity IgE receptor ligation of cultured mast cells were measured by semiquantitative polymerase chain reaction and ELISA, respectively. Results: IL-5, IL-3, and GM-CSF messenger RNA increased within 2 hours of mast cell activation, with IL-5 and GM-CSF message remaining elevated for 24 hours, whereas IL-3 mRNA rapidly declined. IL-5 and GM-CSF protein were measurable 4 to 6 hours after stimulation and peaked by 24 and 12 hours, respectively. IL-3 protein was not detectable. Conclusion: These findings demonstrate that naive mast cells do not constitutively produce IL-5 or GM-CSF protein but are a major source of these eosinophilotropic cytokines on high-affinity IgE receptor ligation. (J Allergy Clin Immunol 1997;99:508-14.)

Published
1997
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8. Conceptual design of the main Ancillary Systems of the ITER Water Cooled Lithium Lead Test Blanket System

Author

Ruggero Forte, Veronica Pierantoni, Rocco Mozzillo, Antonio Cammi, Emanuela Martelli, Claudio Tripodo, I. Catanzaro, Pietro Alessandro Di Maio, Vincenzo Narcisi, Carlos Alfonso Reyes Ortiz, Andrea Tarallo, Balazs Lesko, Fabio Giannetti, Jessica Korzeniowska, Marco Utili, Erik Walcz, Stefano Lorenzi, Gandolfo Alessandro Spagnuolo, Maurizio Bruzzone, I. Ricapito, Pierluigi Chiovaro, Ferruccio Paoletti, A. Tincani, Cristiano Ciurluini, Konstantina Voukelatou, P. Arena, Alessandro Del Nevo, Carlos Hugo Moreno, Tincani A., Arena P., Bruzzone M., Catanzaro I., Ciurluini C., Del Nevo A., Di Maio P.A., Forte R., Giannetti F., Lorenzi S., Martelli E., Moreno C., Mozzillo R., Ortiz C., Paoletti F., Pierantoni V., Ricapito I., Spagnuolo G.A., Tarallo A., Tripodo C., Cammi A., Utili M., Voukelatou K., Walcz E., Lesko B., Korzeniowska J., Chiovaro P., Narcisi V., Tincani, A., Arena, P., Bruzzone, M., Catanzaro, I., Ciurluini, C., Del Nevo, A., Di Maio, P. A., Forte, R., Giannetti, F., Lorenzi, S., Martelli, E., Moreno, C., Mozzillo, R., Ortiz, C., Paoletti, F., Pierantoni, V., Ricapito, I., Spagnuolo, G. A., Tarallo, A., Tripodo, C., Cammi, A., Utili, M., Voukelatou, K., Walcz, E., Lesko, B., Korzeniowska, J., Chiovaro, P., and Narcisi, V.

Subjects
Nuclear engineering, CPS, ITER, PbLi loop, TES, WCLL TBS, WCS, chemistry.chemical_element, Blanket, 01 natural sciences, 010305 fluids & plasmas, Conceptual design, 0103 physical sciences, Water cooling, General Materials Science, 010306 general physics, Settore ING-IND/19 - Impianti Nucleari, Civil and Structural Engineering, Mechanical Engineering, Water cooled, Coolant, Nuclear Energy and Engineering, chemistry, Environmental science, Systems design, Lithium
Abstract

The Water Cooled Lithium Lead Test Blanket System (WCLL TBS) is one of the EU Test Blanket Systems candidate for being installed and operated in ITER. In view of its Conceptual Design Review by F4E and ITER Organization (IO), planned for mid-September 2020, several technical activities have been performed in the areas of WCLL TBS Ancillary Systems design. In this article the outcomes of the conceptual design phase of the four main Ancillary Systems of WCLL TBS, namely the Water Cooling System (WCS), the Coolant Purification System (CPS), the PbLi loop and the Tritium Extraction System (TES), are reported and critically discussed. In particular, for each Ancillary System hereafter are reported: i) a short design description, including the conceptual design of their main components together with their operative conditions under the so-called Normal Operational State (NOS), ii) the ESP-ESPN classification for their main components, and iii) their arrangement and integration in the assigned ITER areas (PC#16, Vertical Shaft, TCWS Vault, Galleries and Tritium Process Room).

Published
2021

9. Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.

Author

Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, and Miller MJ

Subjects
Infant, Newborn, Humans, Chromatography, Liquid, Tandem Mass Spectrometry, Biomarkers, ATPases Associated with Diverse Cellular Activities, Membrane Proteins genetics, Membrane Proteins metabolism, Adrenoleukodystrophy diagnosis, Adrenoleukodystrophy genetics, Peroxisomal Disorders diagnosis, Peroxisomal Disorders genetics
Abstract

The peroxisome is an essential eukaryotic organelle with diverse metabolic functions. Inherited peroxisomal disorders are associated with a wide spectrum of clinical outcomes and are broadly divided into two classes, those impacting peroxisome biogenesis (PBD) and those impacting specific peroxisomal factors. Prior studies have indicated a role for acylcarnitine testing in the diagnosis of some peroxisomal diseases through the detection of long chain dicarboxylic acylcarnitine abnormalities (C16-DC and C18-DC). However, there remains limited independent corroboration of these initial findings and acylcarnitine testing for peroxisomal diseases has not been widely adopted in clinical laboratories. To explore the utility of acylcarnitine testing in the diagnosis of peroxisomal disorders we applied a LC-MS/MS acylcarnitine method to study a heterogenous clinical sample set (n = 598) that included residual plasma specimens from nineteen patients with PBD caused by PEX1 or PEX6 deficiency, ranging in severity from lethal neonatal onset to mild late onset forms. Multiple dicarboxylic acylcarnitines were significantly elevated in PBD patients including medium to long chain (C8-DC to C18-DC) species as well as previously undescribed elevations of malonylcarnitine (C3-DC) and very long chain dicarboxylic acylcarnitines (C20-DC and C22-DC). The best performing plasma acylcarnitine biomarkers, C20-DC and C22-DC, were detected at elevated levels in 100% and 68% of PBD patients but were rarely elevated in patients that did not have a PBD. We extended our analysis to residual newborn screening blood spot cards and were able to detect dicarboxylic acylcarnitine abnormalities in a newborn with a PBD caused by PEX6 deficiency. Similar to prior studies, we failed to detect substantial dicarboxylic acylcarnitine abnormalities in blood spot cards from patients with x-linked adrenoleukodystrophy (x-ald) indicating that these biomarkers may have utility in quickly narrowing the differential diagnosis in patients with a positive newborn screen for x-ald. Overall, our study identifies widespread dicarboxylic acylcarnitine abnormalities in patients with PBD and highlights key acylcarnitine biomarkers for the detection of this class of inherited metabolic disease., Competing Interests: Declaration of Competing Interest The authors declare they have no conflicts of interest., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Published
2023
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10. Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.

Author

Dorley MC, Dizikes GJ, Pickens CA, Cuthbert C, Basheeruddin K, Gulamali-Majid F, Hetterich P, Hietala A, Kelsey A, Klug T, Lesko B, Mills M, Moloney S, Neogi P, Orsini J, Singer D, and Petritis K

Abstract

In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower positive predictive values. Harmonization has been proposed as a way to minimize false-negative and false-positive results and correct for method differences, so we harmonized enzyme activities for Pompe and MPS I across laboratories and testing methods (Tandem Mass Spectrometry (MS/MS) or Digital Microfluidics (DMF)). Participating states analyzed proofof- concept calibrators, blanks, and contrived specimens and reported enzyme activities, cutoffs, and other testing parameters to Tennessee. Regression and multiples of the median were used to harmonize the data. We observed varied cutoffs and results. Six of seven MS/MS labs reported enzyme activities for one specimen for MPS I marginally above their respective cutoffs with results classified as negative, whereas all DMF labs reported this specimen's enzyme activity below their respective cutoffs with results classified as positive. Reasonable agreement in enzyme activities and cutoffs was achieved with harmonization; however, harmonization does not change how a value would be reported as this is dependent on the placement of cutoffs.

Published
2023
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11. Dengue Virus Serotype 2 Established in Northern Mozambique (2015-2016).

Author

Oludele J, Lesko B, Mahumane Gundane I, de Bruycker-Nogueira F, Muianga A, Ali S, Mula F, Chelene I, Falk KI, Barreto Dos Santos F, and Gudo ES

Subjects
Adolescent, Adult, Antibodies, Viral blood, Cross-Sectional Studies, Dengue Virus classification, Disease Outbreaks, Female, Humans, Immunoglobulin M blood, Male, Mozambique epidemiology, Phylogeny, Serogroup, Young Adult, Dengue epidemiology, Dengue Virus genetics, Dengue Virus isolation & purification, Viral Nonstructural Proteins genetics
Abstract

After the report of an outbreak of dengue virus serotype 2 in 2014 in Nampula and Pemba cities, northern Mozambique, a surveillance system was established by the National Institute of Health. A study was performed during 2015-2016 to monitor the trend of the outbreak and confirm the circulating serotype of dengue virus (DENV). After the inclusion of consenting patients who met the case definition, samples from 192 patients were tested for the presence of nonstructural protein 1 antigen, and 60/192 (31%) samples were positive. Further analysis included DENV IgM antibodies, with 39 (20%) IgM positive cases. Reverse transcriptase (RT) PCR was performed for identification of the prevailing DENV serotype; 21/23 tested samples were DENV-2 positive, with DENV-2 present in both affected cities. When sequencing DENV, phenotype Cosmopolitan was identified. The surveillance indicates ongoing spread of DENV-2 in northern Mozambique 2 years after the first report of the outbreak.

Published
2017
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12. Seroepidemiologic Screening for Zoonotic Viral Infections, Maputo, Mozambique.

Author

Gudo ES, Lesko B, Vene S, Lagerqvist N, Candido SI, Razão de Deus N, Pinto FD, Pinto G, Monteiro V, Evaristo VL, Bhatt N, Manhica I, and Falk KI

Subjects
Adolescent, Adult, Aged, Animals, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Mozambique epidemiology, Population Surveillance, Seroepidemiologic Studies, Young Adult, Zoonoses transmission, Mass Screening, Zoonoses epidemiology, Zoonoses virology
Published
2016
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13. Universal single-probe RT-PCR assay for diagnosis of dengue virus infections.

Author

Alm E, Lesko B, Lindegren G, Ahlm C, Söderholm S, Falk KI, and Lagerqvist N

Subjects
Adult, Antibodies, Viral blood, Dengue Virus genetics, Female, Humans, Retrospective Studies, Sensitivity and Specificity, Young Adult, Dengue diagnosis, Real-Time Polymerase Chain Reaction methods, Reverse Transcriptase Polymerase Chain Reaction methods
Abstract

Background: Dengue is a mosquito-borne viral disease that has become more prevalent in the last few decades. Most patients are viremic when they present with symptoms, and early diagnosis of dengue is important in preventing severe clinical complications associated with this disease and also represents a key factor in differential diagnosis. Here, we designed and validated a hydrolysis-probe-based one-step real-time RT-PCR assay that targets the genomes of dengue virus serotypes 1-4., Methodology/principal Findings: The primers and probe used in our RT-PCR assay were designed to target the 3' untranslated region of all complete genome sequences of dengue virus available in GenBank (n = 3,305). Performance of the assay was evaluated using in vitro transcribed RNA, laboratory-adapted virus strains, external control panels, and clinical specimens. The linear dynamic range was found to be 104-1011 GCE/mL, and the detection limit was between 6.0×102 and 1.1×103 GCE/mL depending on target sequence. The assay did not cross-react with human RNA, nor did it produce false-positive results for other human pathogenic flaviviruses or clinically important etiological agents of febrile illnesses. We used clinical serum samples obtained from returning travelers with dengue-compatible symptomatology (n = 163) to evaluate the diagnostic relevance of our assay, and laboratory diagnosis performed by the RT-PCR assay had 100% positive agreement with diagnosis performed by NS1 antigen detection. In a retrospective evaluation including 60 archived serum samples collected from confirmed dengue cases 1-9 days after disease onset, the RT-PCR assay detected viral RNA up to 9 days after appearance of symptoms., Conclusions/significance: The validation of the RT-PCR assay presented here indicates that this technique can be a reliable diagnostic tool, and hence we suggest that it be introduced as the method of choice during the first 5 days of dengue symptoms.

Published
2014
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15. The cost-effectiveness of introducing nucleic acid testing to test for hepatitis B, hepatitis C, and human immunodeficiency virus among blood donors in Sweden.

Author

Davidson T, Ekermo B, Gaines H, Lesko B, and Åkerlind B

Subjects
Adult, Aged, Antibodies, Viral blood, Blood Safety methods, Blood Transfusion economics, Cost-Benefit Analysis, Female, HIV genetics, HIV immunology, HIV isolation & purification, HIV Infections diagnosis, HIV Infections economics, HIV Infections epidemiology, HIV Infections virology, Hepacivirus genetics, Hepacivirus immunology, Hepacivirus isolation & purification, Hepatitis B diagnosis, Hepatitis B economics, Hepatitis B epidemiology, Hepatitis B virology, Hepatitis B virus genetics, Hepatitis B virus immunology, Hepatitis B virus isolation & purification, Hepatitis C diagnosis, Hepatitis C economics, Hepatitis C epidemiology, Hepatitis C virology, Humans, Infant, Newborn, Male, Mass Screening methods, Pregnancy, Quality-Adjusted Life Years, Serologic Tests economics, Sweden epidemiology, Blood Donors, Blood Safety economics, DNA, Viral blood, HIV Infections prevention & control, Hepatitis B prevention & control, Hepatitis C prevention & control, Mass Screening economics, Nucleic Acid Amplification Techniques economics, RNA, Viral blood
Abstract

Background: The purpose of this study was to estimate the cost-effectiveness of using individual-donor nucleic acid testing (ID-NAT) in addition to serologic tests compared with the sole use of serologic tests for the identification of hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus (HIV) among blood donors in Sweden., Study Design and Methods: The two strategies analyzed were serologic tests and ID-NAT plus serologic tests. A health-economic model was used to estimate the lifetime costs and effects. The effects were measured as infections avoided and quality-adjusted life-years (QALYs) gained. A societal perspective was used., Results: The largest number of viral transmissions occurred with serologic testing only. However, the risks for viral transmissions were very low with both strategies. The total cost was mainly influenced by the cost of the test carried out. The cost of using ID-NAT plus serologic tests compared to serologic tests alone was estimated at Swedish Krona (SEK) 101 million (USD 12.7 million) per avoided viral transmission. The cost per QALY gained was SEK 22 million (USD 2.7 million)., Conclusion: Using ID-NAT for testing against HBV, HCV, and HIV among blood donors leads to cost-effectiveness ratios that are far beyond what is usually considered cost-effective. The main reason for this is that with current methods, the risks for virus transmission are very low in Sweden., (© 2010 American Association of Blood Banks.)

Published
2011
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16. Serologic analysis of returned travelers with fever, Sweden.

Author

Askling HH, Lesko B, Vene S, Berndtson A, Björkman P, Bläckberg J, Bronner U, Follin P, Hellgren U, Palmerus M, Ekdahl K, Tegnell A, and Struwe J

Subjects
Adolescent, Adult, Aged, Communicable Diseases, Emerging epidemiology, Communicable Diseases, Emerging transmission, Dengue diagnosis, Dengue epidemiology, Female, Fever of Unknown Origin epidemiology, Fever of Unknown Origin etiology, Gastroenteritis diagnosis, Gastroenteritis epidemiology, Humans, Influenza, Human diagnosis, Influenza, Human epidemiology, Influenza, Human transmission, Leptospirosis diagnosis, Leptospirosis epidemiology, Malaria diagnosis, Malaria epidemiology, Male, Middle Aged, Prospective Studies, Retrospective Studies, Rickettsia Infections diagnosis, Rickettsia Infections epidemiology, Serologic Tests, Sweden epidemiology, Young Adult, Communicable Diseases, Emerging diagnosis, Fever of Unknown Origin diagnosis, Travel
Abstract

We studied 1,432 febrile travelers from Sweden who had returned from malaria-endemic areas during March 2005-March 2008. In 383 patients, paired serum samples were blindly analyzed for influenza and 7 other agents. For 21% of 115 patients with fever of unknown origin, serologic analysis showed that influenza was the major cause.

Published
2009
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