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5. Newborn screening for homocystinurias: recent recommendations versus current practice

Author

Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., González-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G., Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H., and Zeyda, M.

Published
2018
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20. Multiple Factors Influencing the Incidence of Congenital Hypothyroidism Detected by Neonatal Screening

Author

Olivieri, A, Fazzini, C, Medda, E, Altamura, R, Angeloni, A, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Camilot, M, Cappa, M, Carducci, C, Caruso, U, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, Mp, Corbetta, C, Costa, P, De Luca, F, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Minelli, G, Napolitano, G, Narducci, P, Oggiano, N, Pafundi, V, Pagliardini, S, Parlato, G, Pasquini, E, Pilia, S, Pizzolante, M, Radetti, G, Righetti, F, Rizzo, A, Salerno, Mc, Scognamiglio, D, Stoppioni, V, Tonacchera, M, Vignola, G, Vigone, Mc, Weber, G., CASSIO, ALESSANDRA, Olivieri, Antonella, Fazzini, Cristina, Medda, Emanuela, Salerno, Mariacarolina, Olivieri, A, Fazzini, C, Medda, E, Altamura, R, Angeloni, A, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Camilot, M, Cappa, M, Carducci, C, Caruso, U, Cassio, A, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, Mp, Corbetta, C, Costa, P, De Luca, F, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Minelli, G, Napolitano, G, Narducci, P, Oggiano, N, Pafundi, V, Pagliardini, S, Parlato, G, Pasquini, E, Pilia, S, Pizzolante, M, Radetti, G, Righetti, F, Rizzo, A, Salerno, Mc, Scognamiglio, D, Stoppioni, V, Tonacchera, M, Vignola, G, Vigone, Mc, and Weber, G

Subjects
Male, medicine.medical_specialty, Pediatrics, Thyroid, Congenital hypothyroidism, Iodine deficiency, Endocrinology, Diabetes and Metabolism, Transient hypothyroidism, Endocrinology, Retrospective Studie, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Mass Screening, Survival rate, Mass screening, Retrospective Studies, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Retrospective cohort study, medicine.disease, Diabetes and Metabolism, Multiple factors, Italy, Congenital hypothyroidism · Incidence · Prematurity · Cutoff levels · Ethnicity, Pediatrics, Perinatology and Child Health, Female, National registry, business, Infant, Premature, Human
Abstract

Background/Aims: Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. Methods: Data were derived from the Italian National Registry of Infants with Congenital Hypothyroidism. Since 1998 the laboratory procedures related to neonatal screening for CH have changed drastically. Accordingly, we estimated the CH incidence during the period 1987-1998 (period 1) and the period 1999-2008 (period 2). Results: The incidence of CH confirmed at birth (including transient hypothyroidism) has increased from 1:3,000 liveborn infants in period 1 to 1:1,940 in period 2 (+54%), whereas the incidence of purely permanent CH increased from 1:3,200 to 1:2,320 (+38%). Lowering of the TSH cutoff was the most important factor contributing to the increase of CH incidence in Italy. Moreover, an increment of 58% of preterm babies with permanent CH was found in period 2 compared with period 1. Conclusion: Our results suggest that more than one cause is responsible for the rise in the increasing CH incidence, with lowering of the screening TSH cutoff and an increased survival rate of a growing number of preterm babies both playing an important role.

Published
2015

22. Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study

Author

Rabbone, I., Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., d(')Annunzio, G., Frongia, A. P., Iafusco, D., Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Scaramuuzza, A. E., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mamm(`i), F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Delvecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, I, Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., D'Annunzio, G., Frongia, A. P., Iafusco, Dario, Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Rabbone, I., Iafusco, D., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mammi, F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Del Vecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, Minuto, Mammì, F., and Mozzillo, Enza.

Subjects
Blood Glucose, Male, Pediatrics, Adolescent, Blood Glucose Self-Monitoring, Child, Child, Preschool, Diabetes Mellitus, Type 1, Equipment Failure, Female, Humans, Infant, Insulin, Italy, Retrospective Studies, Insulin Infusion Systems, type 1 diabetes, medicine.medical_treatment, Endocrinology, Diabetes and Metabolism, Internal Medicine, Endocrinology, 0302 clinical medicine, Retrospective Studie, Medicine, 030212 general & internal medicine, Diabetes, Diabetology, failure, Diabetes and Metabolism, children and adolescents, insulin pump, Cohort study, Type 1, Human, Insulin pump, medicine.medical_specialty, Disease duration, 030209 endocrinology & metabolism, 03 medical and health sciences, Diabetes mellitus, Diabetes Mellitus, Preschool, Type 1 diabetes, business.industry, Diabetes, Type1, Pump, Insulin, Type1, Retrospective cohort study, Pump, medicine.disease, Surgery, Insulin Infusion System, business
Abstract

Aims Insulin pump failure and/or malfunction requiring replacement have not been thoroughly investigated. This study evaluated pump replacement in children and adolescents with Type 1 diabetes using insulin pump therapy. Methods Data were collected for all participants younger than 19 years, starting insulin pump therapy before 31 December 2013. For each child, age, disease duration, date of insulin pump therapy initiation, insulin pump model, failure/malfunction/replacement yes/no and reason were considered for the year 2013. Results Data were returned by 40 of 43 paediatric centres belonging to the Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. In total, 1574 of 11 311 (13.9%) children and adolescents with Type 1 diabetes were using an insulin pump: 29.2% Animas VIBE™, 9.4% Medtronic MiniMed 715/515™, 34.3% Medtronic MiniMed VEO™, 24.3% Accu-Check Spirit Combo™ and 2.8% other models. In 2013, 0.165 insulin pump replacements per patient-year (11.8% due to pump failure/malfunction and 4.7% due to accidental damage) were recorded. Animas VIBE™ (22.1%) and Medtronic MiniMed VEO™ (17.7%) were the most replaced. Conclusions In a large cohort of Italian children and adolescents with Type 1 diabetes, insulin pump failure/malfunction and consequent replacement are aligned with rates previously reported and higher in more sophisticated pump models. This article is protected by copyright. All rights reserved.

Published
2017

23. Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

Author

Crinò A, Fintini D, Bocchini S, Carducci C, and Grugni G

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, lcsh:Internal medicine, lcsh:RC648-665, lcsh:Specialties of internal medicine, lcsh:R, nutritional and metabolic diseases, lcsh:Medicine, lcsh:Diseases of the endocrine glands. Clinical endocrinology, nervous system diseases, lcsh:RC581-951, Prader-Willi, intellectual disabilities, lcsh:RC31-1245, transition period
Abstract

Antonino Crinò,1Danilo Fintini,1 Sarah Bocchini,1 Chiara Carducci,1 Graziano Grugni,2 1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, 2Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy Abstract: Prader–Willi syndrome (PWS) represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS live longer and survive to adulthood. Currently, because of the many physical and behavioral manifestations, transitional health care is not easy for these patients and is considered a very important issue. Moreover, very few studies have examined these transitional problems in young adults with PWS. In recent years, there has been great interest in improving transition planning and support for young people with PWS reaching adulthood. In this article, we underline the main clinical problems in transition and give some advice to make this period less difficult and easier for adolescents with PWS. Special attention should be paid to obesity, diabetes mellitus, hypertension, osteoporosis, and sleep apnea during the period of transition. In PWS, for an effective transition from childhood to adulthood, a multidisciplinary team is needed, and should maintain the same approach to food, environment, and psychiatric issues. For comprehensive care, it is necessary to involve adult endocrinologists and other medical specialists in conjunction with the pediatric team. Parental involvement is, however, a great help for supervising adolescents with PWS during this particular period. Keywords: Prader–Willi, transition period, intellectual disabilities

Published
2016

27. Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake

Author

Olivieri, A, Radetti, G, Medda, E, Altamura, R, Angeloni, A, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Camilot, M, Cappa, M, Carducci, C, Caruso, U, Cassio, A, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, Mp, Corbetta, C, Costa, P, De Luca, F, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Minelli, G, Napolitano, G, Narducci, P, Oggiano, N, Pafundi, V, Pagliardini, S, Parlato, G, Pasquini, E, Pilia, S, Pizzolante, M, Righetti, F, Rizzo, A, Salerno, Mc, Scognamiglio, D, Stoppioni, V, Tonacchera, Massimo, Vignola, G, Vigone, Mc, Weber, G., Olivieri, A, Radetti, G, Medda, E, Salerno, Mariacarolina, Italian Study Group for Congenital, Hypothyroidism, Altamura, R, Angeloni, A, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Camilot, M, Cappa, M, Carducci, C, Caruso, U, Cassio, A, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, Mp, Corbetta, C, Costa, P, De Luca, F, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Minelli, G, Napolitano, G, Narducci, P, Oggiano, N, Pafundi, V, Pagliardini, S, Parlato, G, Pasquini, E, Pilia, S, Pizzolante, M, Righetti, F, Rizzo, A, Salerno, Mc, Scognamiglio, D, Stoppioni, V, Tonacchera, M, Vignola, G, Vigone, Mc, and Weber, G.

Subjects
Male, Thyroid · Congenital hypothyroidism · Iodine deficiency, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Population, Dietary, chemistry.chemical_element, Sodium Chloride, Iodine, Endocrinology, Congenital hypothyroidism, Iodine deficiency, Thyroid, Salt iodization, medicine, Humans, Sodium Chloride, Dietary, Child, Preschool, education, Iodine intake, education.field_of_study, business.industry, Incidence, Medicine (all), Incidence (epidemiology), Infant, Newborn, Infant, Congenital hypothyroidism, Iodine deficiency, Thyroid, Newborn, medicine.disease, Surgery, Child, Preschool, Congenital Hypothyroidism, Female, Italy, Treatment Outcome, Diabetes and Metabolism, medicine.anatomical_structure, chemistry, business
Abstract

PURPOSE: Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency. Differently from the rest of Italy, an efficient program of iodine prophylaxis was implemented in 1981 in the Autonomous Province of Bolzano. The aim of this study was to investigate whether an adequate iodine intake in the population may affect the incidence of permanent congenital hypothyroidism (CH). METHODS: The incidence trends of permanent CH between 1987 and 2006 in Bolzano Province and in the rest of Italy were estimated. RESULTS: Over the years, the CH incidence has remained steadily lower in Bolzano than in the rest of the country. CONCLUSIONS: Primary prevention of permanent CH may be possible by assuring an adequate nutritional iodine intake in the population. However, the time needed to observe a decrease in the incidence of CH is about a decade under conditions of iodine sufficiency.

Published
2014

28. 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

49. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

Marquardt, G. Currier, R. McHugh, D.M.S. 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.A. Baráth, K. 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, 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. Castĩeiras 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. Mei, B. Hoffman, G.L.

Abstract

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. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics.

Published
2012

50. 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

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