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4. Synthesis, structure, and second-order nonlinear optical properties of copper(II) and palladium(II) acentric complexes with N-salicylidene-N'-aroylhydrazine tridentate ligands

Author

Cariati, F., Caruso, U., Centore, R., Marcolli, W., De Maria, A., Panunzi, B., Roviello, A., and Tuzi, A.

Subjects
Chemistry, Inorganic -- Research, Copper compounds, Palladium, Arsenic compounds, Coordination compounds, Ligands -- Composition, Chemistry
Abstract

Research has been conducted on N-salicylidene-N'-aroylhydrazine tridentate ligands. The preparation of these compounds has been carried out, and the results demonstrate that they are functionalized with strong electron-acceptor groups and are of interest in second-order nonlinear optics.

Published
2002

17. 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
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20. Preface

Author

CERONE, R., CARUSO, U., BESLEY, G. T. N., POLLITT, R. J., BROWN, G. K., HOFFMANN, G. F., and GIBSON, K. M.

Published
2000

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
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29. 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
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31. Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism

Author

Olivieri A, Corbetta C, Weber G, Vigone MC, Fazzini C, Medda E, Angeloni U, Antonozzi I, Baserga M, Bernasconi S, Bona G, Bucci I, Calaciura F, Caldarera R, Camilot M, Cappa M, Caruso U, Casini M, Cavallo L, Cesaretti G, Chiarelli F, Ciannamea B, Ciatti R, Cicciò M, Cordova R, Correra A, Costa P, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Grasso G, Gurrado R, Lelli A, Leonardi D, Loche S, Lorini R, Manente G, Monaco F, Minelli G, Narducci P, Oggiano N, Pagliardini S, Parlato G, Pasquini E, Pinchera A, Pizzolante M, Radetti G, Righetti F, Rizzo A, Saggese G, Sala D, Salerno C, Sava L, Scognamiglio D, Stoppioni V, Tonacchera M, Vigneri R, Vignola G, De Luca F., CASSIO, ALESSANDRA, Olivieri, A, Corbetta, C, Weber, Giovanna, Vigone, Mc, Fazzini, C, Medda, E., Angeloni, U, Antonozzi, I, Baserga, M, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Caldarera, R, Camilot, M, Cappa, M, Caruso, U, Casini, M, Cassio, A, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, M, Cordova, R, Correra, A, Costa, P, De Santis, C, Di Maio, S, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Manente, G, Monaco, F, Minelli, G, Narducci, P, Oggiano, N, Pagliardini, S, Parlato, G, Pasquini, E, Pinchera, A, Pizzolante, M, Radetti, G, Righetti, F, Rizzo, A, Saggese, G, Sala, D, Salerno, Mariacarolina, Sava, L, Scognamiglio, D, Stoppioni, V, Tonacchera, M, Vigneri, R, Vignola, G, De Luca, F., Olivieri A, Corbetta C, Weber G, Vigone MC, Fazzini C, Medda E, Angeloni U, Antonozzi I, Baserga M, Bernasconi S, Bona G, Bucci I, Calaciura F, Caldarera R, Camilot M, Cappa M, Caruso U, Casini M, Cassio A, Cavallo L, Cesaretti G, Chiarelli F, Ciannamea B, Ciatti R, Cicciò M, Cordova R, Correra A, Costa P, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Grasso G, Gurrado R, Lelli A, Leonardi D, Loche S, Lorini R, Manente G, Monaco F, Minelli G, Narducci P, Oggiano N, Pagliardini S, Parlato G, Pasquini E, Pinchera A, Pizzolante M, Radetti G, Righetti F, Rizzo A, Saggese G, Sala D, Salerno C, Sava L, Scognamiglio D, Stoppioni V, Tonacchera M, Vigneri R, Vignola G, and De Luca F

Subjects
endocrine system, Pediatrics, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Thyroid Gland, Thyrotropin, IODINE, Context (language use), Infant, Premature, Diseases, Thyroid Function Tests, Biochemistry, Thyroid function tests, Thyroid dysgenesis, Severity of Illness Index, Endocrinology, Neonatal Screening, Thyroid Hormone Treatment, PRETERM INFANTS, Internal medicine, Congenital Hypothyroidism, Medicine, Humans, Registries, defects of thyroid development, Ultrasonography, Newborn screening, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Incidence, Biochemistry (medical), Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, Up-Regulation, Thyroxine, medicine.anatomical_structure, Italy, Thyroid Dysgenesis, mild increase of TSH at screening, business, hormones, hormone substitutes, and hormone antagonists
Abstract

Context: Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted in a progressive increase in detecting additional mild forms of the disease, essentially with normally located and shaped thyroid. However, the question of whether such additional mild CH cases can benefit from detection by newborn screening and early thyroid hormone treatment is still open. Objective: The aim of this study was to estimate the frequency of cases with mild increase of TSH at screening in the Italian population of babies with permanent CH and to characterize these babies in terms of diagnosis classification and neonatal features. Methods: Data recorded in the Italian National Registry of infants with CH were analyzed. Results: Between 2000 and 2006, 17 of the 25 Italian screening centers adopted a TSH cutoff at screening of < 15.0 mu U/mL. It was found that 21.6% of babies with permanent CH had TSH at screening of 15.0 mu U/mL or less, whereas this percentage was 54% in infants with transient hypothyroidism. Among the babies with permanent CH and mild increase of TSH at screening (

Published
2013

32. The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance

Author

Cassio, A, Corbetta, C, Antonozzi, I, Calaciura, F, Caruso, U, Cesaretti, G, Gastaldi, R, Medda, E, Mosca, F, Pasquini, E, Salerno, Mc, Stoppioni, V, Tonacchera, Massimo, Weber, G, Olivieri, Antonella, Italian Society for Pediatric Endocrinology, Diabetology, Italian Society for the Study of Metabolic Diseases, Neonatal, Screening, Italian National Institute of Health, Italian National Coordinating Group for Congenital Hypothyroidism, Italian Thyroid Association, Italian Society of Pediatrics, Italian Society of Neonatology, Italian Society of Endocrinology, Associazione Medici Endocrinologi, Cassio A, Corbetta C, Antonozzi I, Calaciura F, Caruso U, Cesaretti G, Gastaldi R, Medda E, Mosca F, Pasquini E, Salerno MC, Stoppioni V, Tonacchera M, Weber G, Olivieri A, Cassio, A, Corbetta, C, Antonozzi, I, Calaciura, F, Caruso, U, Cesaretti, G, Gastaldi, R, Medda, E, Mosca, F, Pasquini, E, Salerno, Mc, Stoppioni, V, Tonacchera, M, Weber, Giovanna, Olivieri, A., Salerno, Mariacarolina, and Weber, G

Subjects
Italy, Reference Values, Population Surveillance, Infant, Newborn, Humans, Thyrotropin, Quality Improvement, CONGENITAL HYPOTHYROIDISM, NEONATAL SCREENING, Follow-Up Studies
Abstract

The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian screening program for CH is to identify not only babies with severe permanent CH (core target), but also babies with mild persistent and transient forms of CH who could have a benefit from an early replacement therapy (secondary target). In the last years, despite the important results obtained in terms of standardization of screening and follow-up procedures, it has become clear the need of optimizing the program in order to harmonize the screening strategy and the screening procedures among Regions, and to improve the diagnostic and therapeutic approach in all affected infants. On the basis of available guidelines, the experience of the Italian screening and clinical reference centers, and the knowledge derived from the nation-wide surveillance activity performed by the Italian National Registry of Infants with CH, the Italian Society for Pediatric Endocrinology and Diabetology together with the Italian Society for the Study of Metabolic Diseases and Neonatal Screening and the Italian National Institute of Health promoted actions aimed at improving diagnosis, treatment, follow-up and surveillance of CH in our country. In this paper the most important actions to improve the Italian screening program for CH are described. The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian screening program for CH is to identify not only babies with severe permanent CH (core target), but also babies with mild persistent and transient forms of CH who could have a benefit from an early replacement therapy (secondary target). In the last years, despite the important results obtained in terms of standardization of screening and follow-up procedures, it has become clear the need of optimizing the program in order to harmonize the screening strategy and the screening procedures among Regions, and to improve the diagnostic and therapeutic approach in all affected infants. On the basis of available guidelines, the experience of the Italian screening and clinical reference centers, and the knowledge derived from the nation-wide surveillance activity performed by the Italian National Registry of Infants with CH, the Italian Society for Pediatric Endocrinology and Diabetology together with the Italian Society for the Study of Metabolic Diseases and Neonatal Screening and the Italian National Institute of Health promoted actions aimed at improving diagnosis, treatment, follow-up and surveillance of CH in our country. In this paper the most important actions to improve the Italian screening program for CH are described

Published
2013

33. Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism

Author

Olivieri A, Altamura R, Angeloni U, Antonozzi I, Baserga M, Bernasconi S, Bona G, Bucci I, Calaciura F, Caldarera R, Camilot M, Cappa M, Caruso U, Casini MR, Cassio A, Cavallo L, Cesaretti G, Chiarelli F, Ciannamea B, Ciatti R, Cicciò M, Civolani P, Corbetta C, Cordova R, Correra A, Costa P, De Luca F, De Santis C, Fazzini C, Gallicchio G, Gastaldi R, Grasso G, Gurrado R, Lelli A, Leonardi D, Loche S, Lorini R, Medda E, Monaco F, Minelli G, Narducci P, Oggiano N, Pagliardini S, Parlato G, Pasquini E, Pinchera A, Pizzolante M, Radetti G, Righetti F, Rizzo A, Saggese G, Salerno C, Sava L, Scognamiglio D, Stoppioni V, Tonacchera M, Vigneri R, Vignola G, Vigone MC, WEBER , GIOVANNA, Olivieri, A, Altamura, R, Angeloni, U, Antonozzi, I, Baserga, M, Bernasconi, S, Bona, G, Bucci, I, Calaciura, F, Caldarera, R, Camilot, M, Cappa, M, Caruso, U, Casini, Mr, Cassio, A, Cavallo, L, Cesaretti, G, Chiarelli, F, Ciannamea, B, Ciatti, R, Cicciò, M, Civolani, P, Corbetta, C, Cordova, R, Correra, A, Costa, P, De Luca, F, De Santis, C, Fazzini, C, Gallicchio, G, Gastaldi, R, Grasso, G, Gurrado, R, Lelli, A, Leonardi, D, Loche, S, Lorini, R, Medda, E, Monaco, F, Minelli, G, Narducci, P, Oggiano, N, Pagliardini, S, Parlato, G, Pasquini, E, Pinchera, A, Pizzolante, M, Radetti, G, Righetti, F, Rizzo, A, Saggese, G, Salerno, C, Sava, L, Scognamiglio, D, Stoppioni, V, Tonacchera, M, Vigneri, R, Vignola, G, Vigone, Mc, Weber, G, Salerno, Mariacarolina, Weber, G., and Weber, Giovanna

Subjects
Registry, Pediatrics, medicine.medical_specialty, Population, Congenital hypothyroidism, Italy, Neonatal screening, Congenital Hypothyroidism, Diseases in Twins, Humans, Infant, Newborn, Neonatal Screening, Thyrotropin, Registries, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Disease, Thyroid dysgenesis, Epidemiology, medicine, education, Newborn screening, education.field_of_study, business.industry, Incidence (epidemiology), Infant, Congenital hypothyroidism, Italy, registry, neonatal screening, Perinatology and Child Health, Newborn, medicine.disease, Etiology, business
Abstract

"In Italy, the nationwide newborn screening programme for congenital hypothyroidism (CH) represents an integrated approach to the disease including screening tests, diagnosis, treatment, follow up and nation-wide surveillance of the disease. The latter is performed by the Italian National Registry of Infants with Congenital Hypothyroidism (INRICH). The INRICH is a population-based Registry, this implies that results obtained in the analyses conducted on the data collected in the INRICH are highly representative, can be easily used to improve the health of CH children, and provide information critical to understanding the etiology of the disease. Over the years, the INRICH has contributed: i) to improve procedures for diagnosis, treatment and follow-up of affected babies, by identifying critical points in screening program procedures; ii) to estimate the incidence of CH and the prevalence of the different forms of the disease (thyroid dysgenesis, normally located and shaped thyroid) in our country; iii) to provide a unique opportunity for research into this condition given the large amount and the high quality of information collected in this registry."

Published
2012
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41. Use of diode laser 980 nm as adjunctive therapy in the treatment of chronic periodontitis. A randomized controlled clinical trial

Author

Caruso, U., Nastri, L., Piccolomini, R., Simonetta D'Ercole, Mazza, C., Guida, L., Caruso, U., Nastri, Livia, Piccolomini, R., D'Ercole, S., Mazza, C., and Guida, Luigi

Subjects
Laser, Chronic periodontiti, Non surgical periodontal therapy
Abstract

The primary goal of periodontal therapy is the removal of supra and subgingival bacterial deposits by mechanical debridement consisting in scaling and root-planing (SRP) using manual or power-driven instruments. The complete removal of bacteria and their toxins from periodontal pockets is not always achieved with conventional mechanical treatment. The use of lasers as an adjunctive therapy for periodontal disease may improve tissue healing by bactericidal and detoxification effects. The aim of this study was to compare the effectiveness of Diode laser used as adjunctive therapy of SRP to that of SRP alone for non surgical periodontal treatment in patients with chronic periodontitis. Nineteen pairs of teeth with untreated chronic periodontitis were selected in 13 patients and randomly treated by SRP alone (control group) or by SRP + laser irradiation (test group). Clinical measurements (PPD, CAL, BOP, GI, PI) were performed before treatment at baseline (T0) and at T1 (after 4 weeks), T2 (8 weeks), T3 (12 weeks), T4 (6 months). Subgingival plaque samples were taken at baseline and after treatment and examined for 8 periopathogens bacteria using PCR technique. The present study showed that the additional treatment with diode laser may lead to a slightly improvement of clinical parameters, whereas no significant differences between test and control group in reduction of periodontopathogens were found.

Published
2008

42. Association between thraetened pre-term labour and periodontal disease: does a relationship exist? A matched case-control study

Author

CARUSO F., ARIENZO M. P., PICARDI C., MAZZA C., CARUSO U., NASTRI, Livia, SIGNORIELLO, Giuseppe, GALLO, Ciro, Caruso, F., Nastri, Livia, Arienzo, M. P., Signoriello, Giuseppe, Picardi, C., Mazza, C., Caruso, U., and Gallo, Ciro

Subjects
Pregnancy, Risk factors, Periodontal disease, Postoperative complication
Abstract

Aìm. The relatìonship between periodontal disease and preterm labour has been target of several studies with contrasting findings. The aim ofthis study is to verify thè associatìon between periodontal diseases in pregnant women and threatened preterm labour (TPL). Methods. Two hundred and twenty pregnant women were enrolled in a matched prospective case-control study. Matching factors were age, parity and date of admission. Cases were defìned as women admitted with a diagnosi» of TPL before thè 37th week; controls were defìned as women with terni labour (>37 weeks) in thè same ward. Primary exposure was defined as thè presence of at least one tooth with probing depth (PD) >6 mm andBOP+. Average pocket depth, full-mouth bleeding on probing (FMBS) and thè presence of plaque (FMPS) were also investigated. Matched univariate (McNemar's test and Wilcoxon signed ranktest) and multivariate (conditional logistic regression model) analyses were performed. Results. At least one PD >6 mm BOP+ was found in 30 TPL cases (27.3 %) and 37 controls (33.6%), without significant difference (P=0.27). There was also no difference was found in shallowpockets. The average pocket depth was similar in TPL cases (2.67 mm) and controls (2.78 mm) (P=0.29). The average FMPS was 56.4% in thè cases and 50.7% in thè controls, while FMPS was 36.5% and 39.6%, respectively, though these differences are not statistically significant (P=0.26 and P=0.42, respectively).Conclusion. From our study, there seems to he no association between threatened preterm labour and periodontal disease.

Published
2007

45. 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

46. 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

47. The Role of Medical Counseling in Secondary Prevention of Cancer in the Elderly

Author

Fiori L, Caruso U, Morresi A, Groppa G, Basso A, Piantanelli L, Lanza R, and S. Giunta

Subjects
Counseling, Gerontology, Cancer Research, medicine.medical_specialty, animal structures, media_common.quotation_subject, Alternative medicine, Context (language use), Affect (psychology), 030218 nuclear medicine & medical imaging, Paternalism, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Intervention (counseling), medicine, Humans, Aged, media_common, business.industry, fungi, Age Factors, General Medicine, Oncology, Action (philosophy), 030220 oncology & carcinogenesis, Family medicine, Anxiety, medicine.symptom, business, Autonomy
Abstract

In western countries the elderly are those who experience the major impact of cancer, as epidemiologic data clearly show. Thus, secondary prevention of cancer (SPC) in older persons deserves more attention than it has received until now. Target subjects, however, are often reluctant to enter SPC plans. The reasons range from the lack of knowledge about the importance of SPC to the underevaluation of the risk of cancer, or, even more often, to the anxiety and fear that may stem from such a clinical investigation. In this context, the intervention known as couseling finds its natural and essential role. In the paper some general considerations on the significance of medical counseling is given, with particular emphasis on its role in SPC in the elderly. The analysis herein reported points out the specific skills and methods that physicians can adopt to cope with the eventually adverse influences that may affect the participation of the elderly in SPC initiatives. However, such action should avoid any paternalistic approach and respect the patient's will and autonomy.

Published
1993
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48. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

Author

Olivieri, A., Altamura, R., Angeloni, U., Antonozzi, I., Baserga, M., Berardi, R., Bernasconi, S., Bona, G., Bucci, I., Burroni, M., Calaciura, F., Caldarera, R., Cappa, M., Caruso, U., Casini, M. R., Cassio, A., Cavallo, L., Cerone, R., Cesaretti, G., Cherubini, V., Chiarelli, F., Chiumello, G., Cicchetti, M., Ciccio', M. P., Cicognani, A., Coppola, A., Corbetta, C., Cordova, R., Correra, A., Costa, P., Dammacco, F., Sala, D., De Luca, F., De Santis, C., Di Maio, S., Gallicchio, G., Gastaldi, R., Grasso, G., Gurrado, R., Lasciarrea, L., Lelli, A., Leonardi, D., Liotta, A., Loche, S., Monaco, F., Lorini, R., Manente, G., Minelli, G., Moschini, L., Musaro', M. A., Narducci, T., Pagliardini, S., Palillo, L., Parlato, G., Pasquini, E., Peruzzi, L., Pinchera, Aldo, Pizzolante, M., Radetti, G., Righetti, F., Rizzo, A., Saggese, Giuseppe, Salerno, M. C., Salti, R., Sava, L., Scognamiglio, D., Stoppioni, V., Tato', L., Tonacchera, Massimo, Vigneri, R., Vignola, G., Vigone, M. C., Volta, C., Weber, G., Medda, E., Fazzini, C., De Angelis, S., Stazi, M. A., and Sorcini, M.

Subjects
Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Maternal and child health, lcsh:RJ1-570, lcsh:Pediatrics, Disease, Integrated approach, Perinatology and Child Health, medicine.disease, Congenital hypothyroidism, Transient hypothyroidism, Pediatrics, Perinatology and Child Health, medicine, Commentary, Christian ministry, National registry, business
Abstract

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country. The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition.

Published
2009

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