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1. Off-label use of combined antiretroviral therapy, analysis of data collected by the Italian Register for HIV-1 infection in paediatrics in a large cohort of children

Author: Chiappini, E., Lisi, C., Giacomet, V., Erba, P., Bernardi, S., Zangari, P., Di Biagio, A., Taramasso, L., Giaquinto, C., Rampon, O., Gabiano, C., Garazzino, S., Tagliabue, C., Esposito, S., Bruzzese, E., Badolato, R., Zanaboni, D., Cellini, M., Dedoni, M., Mazza, A., Pession, A., Giannini, A. M., Salvini, F., Dodi, I., Carloni, I., Cazzato, S., Tovo, P. A., de Martino, M., Galli, L., Parigi, S., Orlandi, F., de Martino, A., Pinzani, R., Abbagnato, L., Ruggeri, M., Baldi, F., Faldella, G., Chiriaco, P., Dessi, C., Panto, M. G., Anastasio, E., Govoni, M. R., Bigi, M., Bondi, E., Borea, R., Cenderello, G., Tommasi, D., Nogare, E. R. D., Saitta, M., Felici, L., Consolini, R., Antonellini, A., Anzidei, G., Genovese, O., Catania, S., Natale, F., Olmeo, P., Cristiano, L., Portelli, V., Rabusin, M., Di Pietro, G. M., Fabrizio, L., Chiappini, Elena, Lisi, Catiuscia, Giacomet, Vania, Erba, Paola, Bernardi, Stefania, Zangari, Paola, Di Biagio, Antonio, Taramasso, Lucia, Giaquinto, Carlo, Rampon, Osvalda, Gabiano, Clara, Garazzino, Silvia, Tagliabue, Claudia, Esposito, Susanna, Bruzzese, Eugenia, Badolato, Raffaele, Zanaboni, Domenico, Cellini, Monica, Dedoni, Maurizio, Mazza, Antonio, Pession, Andrea, Giannini, Anna Maria, Salvini, Filippo, Dodi, Icilio, Carloni, Ine, Cazzato, Salvatore, Tovo, Pier Angelo, de Martino, Maurizio, and Galli, Luisa
Subjects: Register (sociolinguistics), Pediatrics, medicine.medical_specialty, HAART, Adolescent, Anti-HIV Agents, Off-label therapy, Human immunodeficiency virus (HIV), HIV Infections, Infectious and parasitic diseases, RC109-216, HIV-1 infection, medicine.disease_cause, Off-label use, Retrospective Studie, Antiretroviral Therapy, Highly Active, medicine, Humans, Highly Active, HIV Infection, Child, Children, Antiretroviral therapy, CD4 Lymphocyte Count, Off-Label Use, Retrospective Studies, Viral Load, HIV-1, business.industry, Research, Anti-HIV Agent, virus diseases, Large cohort, Infectious Diseases, business, Human
Abstract: Background Early start of highly active antiretroviral therapy (HAART) in perinatally HIV-1 infected children is the optimal strategy to prevent immunological and clinical deterioration. To date, according to EMA, only 35% of antiretroviral drugs are licenced in children Methods An observational retrospective study investigating the rate and the outcomes of off-label prescription of HAART was conducted on 225 perinatally HIV-1 infected children enrolled in the Italian Register for HIV Infection in Children and followed-up from 2001 to 2018. Results 22.2% (50/225) of included children were receiving an off-label HAART regimen at last check. Only 26% (13/50) of off-label children had an undetectable viral load (VL) before the commencing of the regimen and the 52.0% (26/50) had a CD4 + T lymphocyte percentage > 25%. At last check, during the off label regimen, the 80% (40/50) of patients had an undetectable VL, and 90% (45/50) of them displayed CD4 + T lymphocyte percentage > 25%. The most widely used off-label drugs were: dolutegravir/abacavir/lamivudine (16%; 8/50), emtricitbine/tenofovir disoproxil (22%; 11/50), lopinavir/ritonavir (20%; 10/50) and elvitegravir/cobicistat/emtricitabine/ tenofovir alafenamide (10%; 10/50). At logistic regression analysis, detectable VL before starting the current HAART regimen was a risk factor for receiving an off-label therapy (OR: 2.41; 95% CI 1.13–5.19; p = 0.024). Moreover, children Conclusion The prescription of an off-label HAART regimen in perinatally HIV-1 infected children was common, in particular in children with detectable VL despite previous HAART and in younger children, especially those receiving their first regimen. Our data suggest similar proportions of virological and immunological successes at last check among children receiving off-label or on-label HAART. Larger studies are needed to better clarify efficacy and safety of off-label HAART regimens in children, in order to allow the enlargement of on-label prescription in children.
Published: 2022

2. Prevalence and Clinical Outcomes of Poor Immune Response Despite Virologically Suppressive Antiretroviral Therapy Among Children and Adolescents With Human Immunodeficiency Virus in Europe and Thailand: Cohort Study

Author: Chappell, E., Riordan, A., Jourdain, G., Soriano-Arandes, A., Ene, L., Scherpbier, H., Warszawski, J., Collins, I., Smit, C., Marques, L., Klein, N., Guillén, S., Judd, A., Thorne, C., Goodall, R., Königs, C., Spoulou, V., Prata, F., Goetghebuer, T., Chiappini, E., Galli, L., Naver, L., Giaquinto, C., Gibb, D., Marczynska, M., Okhonskaia, L., Klimkait, T., Lallemant, M., Ngo-Giang-Huong, N., Kiseleva, G., Malyuta, R., Volokha, A., Hainaut, M., Delforge, M., Le Chenadec, J., Ramos, E., Dialla, O., Wack, T., Laurent, C., Ait Si Selmi, L., Leymarie, I., Ait Benali, F., Brossard, M., Boufassa, L., Floch-Tudal, C., Firtion, G., Hau, I., Chace, A., Bolot, P., Blanche, S., Levine, M., Bicëtre, L., Fourcade, C., Heller-Roussin, B., Runel-Belliard, C., Tricoire, J., Chirouze, C., Reliquet, V., Brouard, J., Kebaili, K., Fialaire, P., Lalande, M., Schultze-Strasser, S., Baumann, U., Niehues, T., Neubert, J., Kobbe, R., Berlin, C., Feiterna-Sperling, C., Buchholz, B., Notheis, G., de Martino, M., Angelo Tovo, P., Patrizia, O., Larovere, D., Ruggeri, M., Faldella, G., Baldi, F., Badolato, R., Montagnani, C., Venturini, E., Lisi, C., Di Biagio, A., Taramasso, L., Giacomet, V., Erba, P., Esposito, S., Lipreri, R., Salvini, F., Tagliabue, C., Cellini, M., Bruzzese, E., Lo Vecchio, A., Rampon, O., Donà, D., Romano, A., Dodi, I., Maccabruni, A., Consolini, R., Bernardi, S., Tchidjou Kuekou, H., Genovese, O., Olmeo, P., Cristiano, L., Mazza, A., Gabiano, C., Garazzino, S., Pellegatta, A., Pajkrt, D., Weijsenfeld, A., de Boer CG, Jurriaans, S., Back, N., Zaaijer, H., Berkhout, B., Cornelissen, M., Schinkel, C., Wolthers, K., Fraaij, P., van Rossum AMC, van der Knaap LC, Visser, E., Koopmans, M., van Kampen JJA, Pas, S., Henriet, S., van de Flier, M., van Aerde, K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F., Schölvinck, E., de Groot-de Jonge, H., Niesters, H., van Leer-Buter CC, Knoester, M., Bont, L., Geelen, S., Wolfs, T., Nauta, N., Ang, C., van Houdt, R., Pettersson, A., Vandenbroucke-Grauls, C., Reiss, P., Bezemer, D., van Sighem AI, Wit, F., Boender, T., Zaheri, S., Hillebregt, M., de Jong, A., Bergsma, D., Grivell, S., Jansen, A., Raethke, M., Meijering, R., de Groot, L., van den Akker, M., Bakker, Y., Claessen, E., El Berkaoui, A., Koops, J., Kruijne, E., Lodewijk, C., Munjishvili, L., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., Rutkens, T., Schoorl, M., Timmerman, A., Tuijn, E., Veenenberg, L., van der Vliet, S., Wisse, A., Woudstra, T., Tuk, B., Popielska, J., Pokorska-Śpiewak, M., Ołdakowska, A., Zawadka, K., Coupland, U., DorobaLaura Marques, M., Teixeira, C., Fernandes, A., Voronin, E., Miloenko, M., Labutina, S., Tomás Ramos, J., Prieto, L., Luisa Navarro, M., Saavedra, J., Santos, M., Angeles Muñoz, M., Ruiz, B., Mc Phee CF, de Ory SJ, Alvarez, S., Ángel Roa, M., Beceiro, J., Martínez, J., Badillo, K., Apilanez, M., Pocheville, I., Garrote, E., Colino, E., Gómez Sirvent, J., Garzón, M., Román, V., Montesdeoca, A., Mateo, M., José Muñoz, M., Angulo, R., Neth, O., Falcón, L., Terol, P., Luis Santos, J., Moreno, D., Lendínez, F., Grande, A., José Romero, F., Lillo, M., Losada, B., Herranz, M., Bustillo, M., Guerrero, C., Collado, P., Antonio Couceiro, J., Pérez, A., Isabel Piqueras, A., Bretón, R., Segarra, I., Gavilán, C., Jareño, E., Montesinos, E., Dapena, M., Álvarez, C., Gloria Andrés, A., Marugán, V., Ochoa, C., Alfayate, S., Isabel Menasalvas, A., de Miguel, E., Aebi-Popp, K., Asner, S., Aubert, V., Battegay, M., Baumann, M., Bernasconi, E., Böni, J., Brazzola, P., Bucher, H., Calmy, A., Cavassini, M., Ciuffi, A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C., Grawe, C., Günthard, H., Haerry, D., Hasse, B., Hirsch, H., Hoffmann, M., Hösli, I., Kahlert, C., Kaiser, L., Keiser, O., Kovari, H., Kouyos, R., Ledergerber, B., Martinetti, G., de Tejada BM, Metzner, K., Müller, N., Nicca, D., Paioni, P., Pantaleo, G., Polli, C., Posfay-Barbe, K., Rauch, A., Rudin, C., Schmid, P., Scherrer, A., Speck, R., Tarr, P., Thanh Lecompte, M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Wyler, C., Yerly, S., Techakunakorn, P., Hansudewechakul, R., Kham, C., Wanchaitanawong, V., Theansavettrakul, S., Sai, M., Nanta, S., Ngampiyaskul, C., Phanomcheong, S., Hongsiriwon, S., Karnchanamayul, W., Kwanchaipanich, R., Kanjanavanit, S., Kamonpakorn, N., Nantarukchaikul, M., Layangool, P., Mekmullica, J., Lucksanapisitkul, P., Watanayothin, S., Lertpienthum, N., Warachit, B., Hanpinitsak, S., Potchalongsin, S., Thanasiri, P., Krikajornkitti, S., Attavinijtrakarn, P., Srirojana, S., Bunjongpak, S., Puangsombat, A., Na-Rajsima, S., Ananpatharachai, P., Akarathum, N., Phuket, V., Lawtongkum, W., Kheunjan, P., Suriyaboon, T., Saipanya, A., Than-In-At, K., Jaisieng, N., Suaysod, R., Chailoet, S., Naratee, N., Kawilapat, S., Kaleeva, T., Baryshnikova, Y., Soloha, S., Bashkatova, N., Raus, I., Glutshenko, O., Ruban, Z., Prymak, N., Bailey, H., Bamford, A., Butler, K., Doerholt, K., Doherty, C., Foster, C., Francis, K., Harrison, I., Kenny, J., Letting, G., Mcmaster, P., Murau, F., Nsangi, E., Peters, H., Prime, K., Shackley, F., Shingadia, D., Storey, S., Tudor-Williams, G., Turkova, A., Welch, S., Jeannie Collins, I., Cook, C., Crichton, S., Dobson, D., Fairbrother, K., M Gibb D, Harper, L., Le Prevost, M., Van Looy, N., Walsh, A., Thrasyvoulou, L., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Sloper, K., Fidler, K., Hague, R., Price, V., Clapson, M., Flynn, J., Cardoso, A., Abou-Rayyah, M., Gurtin, D., Yeadon, S., Segal, S., Ball, C., Hawkins, S., Dowie, M., Bandi, S., Percival, E., Eisenhut, M., Duncan, K., Clough, S., Anguvaa, L., Conway, S., Flood, T., Pickering, A., Murphy, C., Daniels, J., Lees, Y., Thompson, F., Williams, B., Pope, S., Cliffe, L., Smyth, A., Southall, S., Freeman, A., Freeman, H., Christie, S., Gordon, A., Rogahn, D., Clarke, L., Jones, L., Offerman, B., Greenberg, M., Benson, C., Ibberson, L., Faust, S., Hancock, J., Sharland, M., Lyall, H., Monrose, C., Seery, P., Menson, E., Callaghan, A., Bridgwood, A., Evans, J., Blake, E., Yannoulias, A., Critchton, S., Duff, C., Gomezpena, D., Lundin, R., Mangiarini, L., Nardone, A., Posfay Barbe, Klara, Universidad de Alcalá - University of Alcalá (UAH), Department of Sciences for Woman and Child's Health, Università degli Studi di Firenze = University of Florence (UniFI), Épidémiologie clinique, santé mère-enfant et VIH en Asie du Sud-Est (IRD_PHPT), Harvard University-Chiang Mai University (CMU), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier de Saint-Denis [Ile-de-France], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), service de maladies infectieuses CHU J Minjoz Besancon, Service des maladies infectieuses et tropicales [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Pédiatrie Médicale [Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'hématologie : Immuno-Hématologie pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Universitätsklinikum Frankfurt, Infectious Diseases, San Martino Hospital, Università degli studi di Genova = University of Genoa (UniGe), Department of Maternal and Pediatric Sciences, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Maternal-Infantile Department, Unit of Paediatrics and Oncohematology, University Hospital of Parma, Department of Infectious Diseases, IRCCS S. Matteo, Department of Paediatrics, Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Dipartimento di Ingegneria [Benevento], Università degli Studi del Sannio, University of Twente, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Laboratory for Infectious Diseases and Perinatal Screening, Center for Infectious Disease Control, National Institute for Public Health and the Environment [Bilthoven] (RIVM), Architecture et réactivité de l'ARN (ARN), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Synthèse, Structure et Propriétés de Matériaux Fonctionnels (STEP), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Stichting HIV Monitoring, Universidade Federal do Ceará = Federal University of Ceará (UFC), Departamento de Química Orgánica, Universidade de Vigo, Polytechnical University of Valencia, Fac Biol, Dept Genet, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU), Service des maladies infectieuses, Hôpitaux Universitaires de Genève (HUG), University of Basel (Unibas), Dysfonctions métaboliques et diabètes: Mécanismes et approches thérapeutiques, Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM), University Heart Centre Freiburg - Bad Krozingen, Prapokklao Hospital [Chanthaburi, Thailand], Nakornping Hospital [Chiang Mai, Thailand], Samutsakhon Hospital [Samutsakhon, Thailand], Kalasin Hospital [Kalasin, Thailand], Sanpatong Hospital [Chiang Mai, Thailand], Chiang Mai University (CMU), Microbiology Department, St. Jame's Hospital, University of Edinburgh, Infectious Diseases and Microbiology Unit, Great Ormond Street Hospital for Children [London] (GOSH)-Institute of Child Health, European Synchrotron Radiation Facility (ESRF), Centre for Ecology and Hydrology [Bangor] (CEH), Natural Environment Research Council (NERC), Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), University of London [London], London South Bank University (LSBU), Dipartimento di Pediatria, Azienda Ospedaliera di Padova, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), The European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) Study Group in EuroCoord, Florence University, Harvard University [Cambridge]-Chiang Mai University (CMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Genoa (UNIGE), Catholic University of Rome, University of Twente [Netherlands], Institut de Chimie du CNRS (INC)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), University of the Basque Country [Bizkaia] (UPV/EHU), Université Nice Sophia Antipolis (... - 2019) (UNS), Pediatrics, Virology, Chappell, Elizabeth, Riordan, Andrew, Jourdain, Gonzague, Soriano-Arandes, Antoni, Ene, Luminita, J Scherpbier, Henriette, Warszawski, Josiane, J Collins, Intira, Smit, Colette, Marques, Laura, Klein, Nigel, Guillén, Sara, Judd, Ali, Thorne, Claire, Goodall, Ruth, Königs, Christoph, Spoulou, Vana, Prata, Filipa, Goetghebuer, Tessa, Chiappini, Elena, Galli, Luisa, Naver, Lar, Giaquinto, Carlo, M Gibb, Diana, Marczynska, Magdalena, Okhonskaia, Liubov, Klimkait, Thoma, Lallemant, Marc, Ngo-Giang-Huong, Nicole, Kiseleva, Galyna, Malyuta, Ruslan, Volokha, Alla, Hainaut, Marc, Delforge, Marc, Le Chenadec, Jerome, Ramos, Elisa, Dialla, Olivia, Wack, Thierry, Laurent, Corine, Ait Si Selmi, Lamya, Leymarie, Isabelle, Ait Benali, Fazia, Brossard, Maud, Boufassa, Leila, Floch-Tudal, Corinne, Firtion, Ghislaine, Hau, Isabelle, Chace, Anne, Bolot, Pascal, Blanche, Stéphane, Levine, Martine, Kremlin Bicëtre, Le, Fourcade, Corinne, Heller-Roussin, Brigitte, Runel-Belliard, Camille, Tricoire, Joëlle, Chirouze, Catherine, Reliquet, Véronique, Brouard, Jacque, Kebaili, Kamila, Fialaire, Pascale, Lalande, Muriel, Schultze-Strasser, Stephan, Baumann, U, Niehues, T, Neubert, J, Kobbe, R, Berlin, Charite, Feiterna-Sperling, C, Königs, C, Buchholz, B, Notheis, G, de Martino, Maurizio, Angelo Tovo, Pier, Patrizia, Osimani, Larovere, Domenico, Ruggeri, Maurizio, Faldella, Giacomo, Baldi, Francesco, Badolato, Raffaele, Montagnani, Carlotta, Venturini, Elisabetta, Lisi, Catiuscia, Di Biagio, Antonio, Taramasso, Lucia, Giacomet, Vania, Erba, Paola, Esposito, Susanna, Lipreri, Rita, Salvini, Filippo, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, LO VECCHIO, Andrea, Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam institute for Infection and Immunity, AII - Infectious diseases, Amsterdam Reproduction & Development (AR&D), APH - Aging & Later Life, Infectious diseases, and Global Health
Subjects: 0301 basic medicine, medicine.medical_treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], HIV Infections, Rate ratio, Cohort Studies, 0302 clinical medicine, Pregnancy, Antiretroviral Therapy, Highly Active, Prevalence, 030212 general & internal medicine, Child, poor immune response, ddc:618, Immunosuppression, Viral Load, Hepatitis B, Thailand, 3. Good health, Europe, Thailand/epidemiology, Infectious Diseases, Cohort, Coinfection, Female, Cohort study, Adult, Microbiology (medical), viral suppression, medicine.medical_specialty, Adolescent, Anti-HIV Agents, antiretroviral therapy, 030106 microbiology, Europe/epidemiology, 03 medical and health sciences, children, Acquired immunodeficiency syndrome (AIDS), SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, HIV, Aged, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Immunity, medicine.disease, HIV Infections/drug therapy/epidemiology, CD4 Lymphocyte Count, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Anti-HIV Agents/therapeutic use, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background In human immunodeficiency virus (HIV)–positive adults, low CD4 cell counts despite fully suppressed HIV-1 RNA on antiretroviral therapy (ART) have been associated with increased risk of morbidity and mortality. We assessed the prevalence and outcomes of poor immune response (PIR) in children receiving suppressive ART. Methods Sixteen cohorts from the European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) contributed data. Children Results Of 2318 children included, median age was 6.4 years and 68% had advanced/severe immunosuppression at ART initiation. At 1 year of VS, 12% had PIR. In multivariable analysis, PIR was associated with older age and worse immunological stage at ART start, hepatitis B coinfection, and residing in Thailand (all P ≤ .03). Rates of AIDS/death (95% confidence interval) per 100 000 person-years were 1052 (547, 2022) among PIR versus 261 (166, 409) among immune responders; rate ratio of 4.04 (1.83, 8.92; P < .001). Conclusions One in eight children in our cohort experienced PIR despite sustained VS. While the overall rate of AIDS/death was low, children with PIR had a 4-fold increase in risk of event as compared with immune responders.
Published: 2020
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3. Children living with HIV in Europe: do migrants have worse treatment outcomes?

Author: Chappell, E., Kohns Vasconcelos, M., Goodall, R. L., Galli, L., Goetghebuer, T., Noguera-Julian, A., Rodrigues, L. C., Scherpbier, H., Smit, C., Bamford, A., Crichton, S., Navarro, M. L., Ramos, J. T., Warszawski, J., Spolou, V., Chiappini, E., Venturini, E., Prata, F., Kahlert, C., Marczynska, M., Marques, L., Naver, L., Thorne, C., Gibb, D. M., Giaquinto, C., Judd, A., Collins, I. J., Goodall, R., Rodrigues, L., Duff, C., Gomezpena, D., Jackson, C., Lundin, R., Mangiarini, L., Milanzi, E., Nardone, A., Hainaut, M., Van der Kelen, E., Delforge, M., Le Chenadec, J., Ramos, E., Dialla, O., Wack, T., Laurent, C., Ait si Selmi, L., Leymarie, I., Ait Benali, F., Brossard, M., Boufassa, L., Floch-Tudal, C., Firtion, G., Hau, I., Chace, A., Bolot, P., Blanche, S., Granier, M., Labrune, P., Lachassine, E., Dollfus, C., Levine, M., Fourcade, C., Heller-Roussin, B., Runel-Belliard, C., Tricoire, J., Monpoux, F., Chirouze, C., Reliquet, V., Brouard, J., Kebaili, K., Fialaire, P., de Villeneuve, A., Lalande, M., de Flandres, J., Mazingue, F., Partisani, M. L., de Martino, M., Angelo Tovo, P., Gabiano, C., Carloni, I., Larovere, D., Baldi, F., Miniaci, A., Pession, A., Badolato, R., Panto, G., Anastasio, E., Montagnani, C., Bianchi, L., Allodi, A., Di Biagio, A., Grignolo, S., Giacomet, V., Marchisio, P., Banderali, G., Tagliabue, C., Cellini, M., Bruzzese, E., Di Costanzo, P., Lo Vecchio, A., Dona, D., Rampon, O., Romano, A., Dodi, I., Esposito, S., Zuccaro, V., Zanaboni, D., Consolini, R., Bernardi, S., Genovese, O., Cristiano, L., Mazza, A., Garazzino, S., Mignone, F., Silvestro, E., Portelli, V., Kinderziekenhuis, E., van der Kuip, M., Pajkrt, D., Scherpbier, H. J., de Boer, C., Weijsenfeld, A. M., Jurriaans, S., Back, N. K. T., Zaaijer, H. L., Berkhout, B., Cornelissen, M. T. E., Schinkel, C. J., Wolthers, K. C., Fraaij, P. L. A., van Rossum, A. M. C., Vermont, C. L., van der Knaap, L. C., Visser, E., Boucher, C. A. B., Koopmans, M. P. G., van Kampen, J. J. A., Henriet, S. S. V., van Aerde, M. K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F. F., Burger, D., Scholvinck, E. H., de Groot-de Jonge, H., Niesters, H. G. M., van Leer-Buter, C. C., Knoester, M., Bont, L. J., Geelen, S. P. M., Loeffen, Y. G. T., Wolfs, T. F. W., Nauta, N., Schuurman, R., Hofstra, L. M., Wensing, A. M. J., Reiss, P., Zaheri, S., Boyd, A. C., Bezemer, D. O., van Sighem, A. I., Wit, F. W. M. N., Hillebregt, M. M. J., Woudstra, T. J., Bergsma, D., van de Sande, L., Rutkens, T., van der Vliet, S., Lelivelt, K. J., Scheijgrond, A., de Groot, L., van den Akker, M., Bakker, Y., EI Berkaoui, A., Bezemer, M., Bretin, N., Djoechro, E., Groters, M., Kruijne, E., Lodewijk, C., Lucas, E., Munjishvili, L., Paling, F., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., Schoorl, M., Schnorr, P., Tuijn, E., Veenenberg, L., Visser, K. M., Witte, E. C., Popielska, J., Pokorska-Spiewak, M., Oldakowska, A., Zawadka, K., Coupland, U., Doroba, M., Teixeira, C., Fernandes, A., Soler-Palacin, P., Antoinette Frick, M., Perez-Hoyos, S., Mur, A., Lopez, N., Mendez, M., Mayol, L., Vallmanya, T., Calavia, O., Garcia, L., Coll, M., Pineda, V., Rius, N., Rovira, N., Duenas, J., Fortuny, C., Jose Mellado, M., Escosa, L., Garcia Hortelano, M., Sainz, T., Gonzalez-Tome, M. I., Rojo, P., Blazquez, D., Prieto-Tato, L., Epalza, C., Tomas Ramos, J., Guillen, S., Saavedra, J., Santos, M., Santiago, B., de Ory, S. J., Carrasco, I., Munoz-Fernandez, M. A., Angel Roa, M., Penin, M., Martinez, J., Badillo, K., Onate, E., Pocheville, I., Garrote, E., Colino, E., Gomez Sirvent, J., Garzon, M., Roman, V., Angulo, R., Neth, O., Falcon, L., Terol, P., Luis Santos, J., Moreno, D., Lendinez, F., Peromingo, E., Uberos, J., Ruiz, B., Grande, A., Jose Romero, F., Perez, C., Lillo, M., Losada, B., Herranz, M., Bustillo, M., Collado, P., Antonio Couceiro, J., Vila, L., Calvino, C., Isabel Piqueras, A., Oltra, M., Gavilan, C., Montesinos, E., Dapena, M., Alvarez, C., Jimenez, B., Gloria Andres, A., Marugan, V., Ochoa, C., Alfayate, S., Isabel Menasalvas, A., del Prado, Y. R., Navernaver, L., Soeria-Atmadja, S., Belfrage, E., Hagas, V., Aebi-Popp, K., Anagnostopoulos, A., Battegay, M., Baumann, M., Bernasconi, E., Boni, J., Braun, D. L., Bucher, H. C., Calmy, A., Cavassini, M., Ciuffi, A., Crisinel, P. A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C. A., Gunthard, H. F., Haerry, D., Hasse, B., Hirsch, H. H., Hoffmann, M., Hosli, I., Huber, M., Kaiser, L., Keiser, O., Klimkait, T., Kottanattu, L., Kouyos, R. D., Kovari, H., Ledergerber, B., Martinetti, G., Martinez de Tejada, B., Marzolini, C., Metzner, K. J., Muller, N., Nicca, D., Paioni, P., Pantaleo, G., Perreau, M., Polli, C., Rauch, A., Rudin, C., Scherrer, A. U., Schmid, P., Speck, R., Stockle, M., Sultan-Beyer, L., Tarr, P., Thanh Lecompte, M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Yerly, S., Lyall, H., Butler, K., Doerholt, K., Doherty, C., Foster, C., Harrison, I., Kenny, J., Klein, N., Letting, G., Mcmaster, P., Murau, F., Nsangi, E., Prime, K., Riordan, A., Shackley, F., Shingadia, D., Storey, S., Tudor-Williams, G., Turkova, A., Welch, S., Cook, C., Dobson, D., Fairbrother, K., Prevost, M. L., Van Looy, N., Peters, H., Francis, K., Thrasyvoulou, L., Fidler, K., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Hague, R., Price, V., Flynn, J., Cardoso, A., Abou - Rayyah, M., Yeadon, S., Segal, S., Hawkins, S., Dowie, M., Bandi, S., Percival, E., Eisenhut, M., Duncan, K., Anguvaa, L., Wren, L., Flood, T., Pickering, A., Murphy, C., Daniels, J., Lees, Y., Thompson, F., Williams, A., Williams, B., Pope, S., Libeschutz, S., Cliffe, L., Southall, S., Freeman, A., Freeman, H., Christie, S., Gordon, A., Rosie Hague, D., Clarke, L., Jones, L., Brown, L., Greenberg, M., Benson, C., Ibberson, L., Patel, S., Hancock, J., Sharland, M., Lyall, E. G. H., Seery, P., Kirkhope, N., Raghunanan, S., Callaghan, A., Bridgwood, A., Evans, J., Blake, E., Yannoulias, A., Department of Sciences for Woman and Child's Health, Florence University, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam institute for Infection and Immunity, Infectious diseases, AII - Infectious diseases, Amsterdam Reproduction & Development (AR&D), Medical Microbiology and Infection Prevention, Gastroenterology and Hepatology, Global Health, APH - Aging & Later Life, Biomedical Engineering and Physics, ACS - Atherosclerosis & ischemic syndromes, 1, Elizabeth Chappell, 2 3 4, Malte Kohns Vasconcelo, L Goodall 1, Ruth, 5, Luisa Galli, 6, Tessa Goetghebuer, 9 10, Antoni Noguera-Julian 7 8, C Rodrigues 2, Laura, Scherpbier 11, Henriette, Smit 12, Colette, 1 13 14, Alasdair Bamford, 1, Siobhan Crichton, Luisa Navarro 10 15 16 17, Marissa, T Ramos 18, Jose, Warszawski 19 20, Josiane, Spolou 21, Vana, 5, Elena Chiappini, 5, Elisabetta Venturini, Prata 22, Filipa, Kahlert 23, Christian, Marczynska 24, Magdalena, Marques 25, Laura, Naver 26, Lar, Thorne 14, Claire, M Gibb 1, Diana, Giaquinto 27, Carlo, 1, Ali Judd, 1, Intira Jeannie Collin, Pregnancy and Paediatric Infections Cohort Collaboration (EPPICC), European, Goodall, Ruth, Rodrigues, Laura, Duff, Charlotte, Gomezpena, Daniel, Jackson, Charlotte, Lundin, Rebecca, Mangiarini, Laura, Milanzi, Edith, Nardone, Alessandra, Hainaut, Marc, Van der Kelen, Evelyne, Delforge, Marc, Le Chenadec, Jerome, Ramos, Elisa, Dialla, Olivia, Wack, Thierry, Laurent, Corine, Ait Si Selmi, Lamya, Leymarie, Isabelle, Ait Benali, Fazia, Brossard, Maud, Boufassa, Leila, Floch-Tudal, Corinne, Firtion, Ghislaine, Hau, Isabelle, Chace, Anne, Bolot, Pascal, Blanche, Stéphane, Granier, Michèle, Labrune, Philippe, Lachassine, Eric, Dollfus, Catherine, Levine, Martine, Fourcade, Corinne, Heller-Roussin, Brigitte, Runel-Belliard, Camille, Tricoire, Joëlle, Monpoux, Fabrice, Chirouze, Catherine, Reliquet, Véronique, Brouard, Jacque, Kebaili, Kamila, Fialaire, Pascale, de Villeneuve, Arnaud, Lalande, Muriel, de Flandres, Jeanne, Mazingue, Françoise, Luisa Partisani, Maria, de Martino, Maurizio, Angelo Tovo, Pier, Gabiano, Clara, Carloni, Ine, Larovere, Domenico, Baldi, Francesco, Miniaci, Angela, Pession, Andrea, Badolato, Raffaele, Pantò, Grazia, Anastasio, Elisa, Montagnani, Carlotta, Bianchi, Leila, Allodi, Alessandra, Di Biagio, Antonio, Grignolo, Sara, Giacomet, Vania, Marchisio, Paola, Banderali, Giuseppe, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, DI COSTANZO, Pasquale, LO VECCHIO, Andrea, Donà, Daniele, Rampon, Osvalda, Romano, Amelia, Dodi, Icilio, Esposito, Susanna, Zuccaro, Valentina, Zanaboni, Domenico, Consolini, Rita, Bernardi, Stefania, Genovese, Orazio, Cristiano, Letizia, Mazza, Antonio, Garazzino, Silvia, Mignone, Federica, Silvestro, Erika, Portelli, Vincenzo, Pediatric surgery, Pediatrics, and Virology
Subjects: children, Europe, HIV, migrant, mortality, Adolescent, Child, Humans, Treatment Outcome, Viral Load, Anti-HIV Agents, HIV Infections, Transients and Migrants, medicine.medical_treatment, Human immunodeficiency virus (HIV), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, 0302 clinical medicine, Medicine, Pharmacology (medical), 030212 general & internal medicine, health care economics and organizations, Health Policy, Hazard ratio, virus diseases, Immunosuppression, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, population characteristics, 0305 other medical science, Viral load, geographic locations, education, 03 medical and health sciences, Acquired immunodeficiency syndrome (AIDS), SDG 3 - Good Health and Well-being, 030505 public health, business.industry, Proportional hazards model, medicine.disease, Confidence interval, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Observational study, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Demography
Abstract: Contains fulltext : 249078.pdf (Publisher’s version ) (Open Access) OBJECTIVES: To assess the effect of migrant status on treatment outcomes among children living with HIV in Europe. METHODS: Children aged
Published: 2022
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4. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee

Author: Giancane G1, Swart JF2, Castagnola E3, Groll AH4, Horneff G5, 6, Huppertz HI7, Lovell DJ8, Wolfs T2, Herlin T9, Dolezalova P10, Sanner H11, Susic G13, Sztajnbok F14, Maritsi D15, Constantin T16, Vargova V17, Sawhney S18, Rygg M19, K Oliveira S21, Cattalini M22, Bovis F1, Bagnasco F1, Pistorio A23, Martini A24, Wulffraat N2, Ruperto N25, Paediatric Rheumatology International Trials Organisation (PRINTO). Cuttica R, Garay SM, Brunner J, Emminger W, Appenzeller S, Len C, Saad Magalhaes C, Telcharova-Mihaylovska A, Harjacek M, Jelusic M, Estmann A, Nielsen S, Herrera Mora C, Gervais E, Koné-Paut I, Quartier P, Foeldvari I, Horneff G, Lutz T, Minden K, Tzaribachev N, Trachana M, Tsitsami E, Vougiouka O, Orban I, Harel L, Hashkes P, Uziel Y, Cimaz R, Civino A, Consolini R, D'Angelo G, De Benedetti F, Filocamo G, Fueri E, Gallizzi R, Maggio MC, Magnolia MG, Miniaci A, Montin D, Olivieri A. N., Pastore S, Rigante D, Zulian F, Rumba-Rozenfelde I, Stanevicha V, Panaviene V, Rodriguez Lozano AL, Rubio-Perez N, Vega Cornejo G, Hoppenreijs E, Kamphuis S, Flato B, Nordal EB, Abdwani R, Miraval T, Paz Gastanaga ME, Smolewska E, Ailioaie C, Cochino AV, Laday M, Lazar C, Alexeeva E, Chasnyk V, Keltsev V, Suwairi WMS, Vijatov-Djuric G, Vojinovic J, Arkachaisri T, Koskova E, Avcin T, Ally M, Van Rensburg CJ, Louw I, Lopez JA, Boteanu AL, Calvo Penades I, De Inocencio J, Mesa-Del-Castillo P, Moreno E, Remesal A, Hofer M, Gok F, Ozen S, Ramanan A, Pallotti C, Villa L., Giancane, G1, Swart, Jf2, Castagnola, E3, Groll, Ah4, Horneff, G5, Huppertz, Hi7, Lovell, Dj8, Wolfs, T2, Herlin, T9, Dolezalova, P10, Sanner, H11, Susic, G13, Sztajnbok, F14, Maritsi, D15, Constantin, T16, Vargova, V17, Sawhney, S18, Rygg, M19, K Oliveira, S21, Cattalini, M22, Bovis, F1, Bagnasco, F1, Pistorio, A23, Martini, A24, Wulffraat, N2, Ruperto, N25, Paediatric Rheumatology International Trials Organisation (PRINTO)., Cuttica R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Horneff, G, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, A. N., Pastore, S, Rigante, D, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L., Giancane, Gabriella, Swart, Joost F, Castagnola, Elio, Groll, Andreas H, Horneff, Gerd, Huppertz, Hans-Iko, Lovell, Daniel J, Wolfs, Tom, Herlin, Troel, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tama, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, K Oliveira, Sheila, Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Mari, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thoma, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis-Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, and Pediatrics
Subjects: Male, lcsh:Diseases of the musculoskeletal system, Biologic, Paediatrics: 760 [VDP], Artritis infecciosa, MedDRA, Infants malalts, Arthritis, Severity of Illness Index, Hospital patients, Cohort Studies, Pharmacovigilance, 0302 clinical medicine, 030212 general & internal medicine, Registries, Child, Biologics, Immunosuppressive therapy, Infections, Juvenile idiopathic arthritis, Opportunistic, biologics, immunosuppressive therapy, infections, juvenile idiopathic arthritis, opportunistic, Barneleddgikt, 3. Good health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Antirheumatic Agents, Child, Preschool, Cohort, Pediatric Infectious Disease, Female, Infection, Research Article, medicine.medical_specialty, Tuberculosis, juvenil idiopathic arthritis, Opportunistic Infections, Herpes Zoster, 03 medical and health sciences, Immunocompromised Host, Juvenile idiopathic arthriti, Internal medicine, medicine, Humans, book, 030203 arthritis & rheumatology, Malalts hospitalitzats, Immunosupressió, business.industry, Sick children, medicine.disease, Rheumatology, Arthritis, Juvenile, Infectious arthritis, Pediatri: 760 [VDP], Orthopedic surgery, Opportunistiske infeksjoner, book.journal, lcsh:RC925-935, business, Infeccions oportunistes, Immunosuppression
Abstract: Background: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). Methods: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. Results: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. Conclusions: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies. © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Published: 2020
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5. Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients

Author: Ungaro, R., Taramasso, L., Bruzzone, B., Vicenti, I., Galli, L., Borghi, V., Francisci, D., Pecorari, M., Zoncada, A., Callegaro, A. P., Paolini, E., Monno, L., Bonora, S., Di Biagio, A., ARCA Study Group, Giacometti, A., Butini, L., del Gobbo, R., Bagnarelli, P., Tacconi, D., Corbelli, G., Zanussi, S., Punzi, G., Maggiolo, F., Calza, L., Carla Re, M., Pristera, R., Turconi, P., Mandas, A., Tini, S., Amadio, G., Sighinolfi, L., Corsi, P., Di Pietro, M., Colao, G., Tosti, A., Setti, M., Cenderello, G., Trezzi, M., Orani, A., Arcidiacono, I., Degiuli, A., De Gennaro, M., Chiodera, A., Scalzini, A., Palvarini, L., Todaro, G., Rusconi, S., Gismondo, M. R., Micheli, V., Biondi, M. L., Capetti, A., Meraviglia, P., Boeri, E., Mussini, C., Soria, A., Vecchi, L., Santirocchi, M., Brustia, D., Ravanini, P., Dal Bello, F., Romano, N., Mancuso, S., Calzetti, C., Maserati, R., Filice, G., Baldanti, F., Parruti, G., Polilli, E., Sacchini, D., Martinelli, C., Consolini, R., Vatteroni, L., Vivarelli, A., Nerli, A., Lenzi, L., Magnani, G., Ortolani, P., Andreoni, M., Fimiani, C., Palmisano, L., Di Giambenedetto, S., Vullo, V., Turriziani, O., Montano, M., Antinori, A., Zaccarelli, M., Dentone, C., Gonnelli, A., De Luca, A., Palumbo, M., Ghisetti, V., Delle Foglie, P., Rossi, C., Mondino, V., Malena, M., Grossi, P., Seminari, E., Poletti, F., Ungaro R., Taramasso L., Bruzzone B., Vicenti I., Galli L., Borghi V., Francisci D., Pecorari M., Zoncada A., Callegaro A.P., Paolini E., Monno L., Bonora S., Di Biagio A., Giacometti A., Butini L., del Gobbo R., Bagnarelli P., Tacconi D., Corbelli G., Zanussi S., Punzi G., Maggiolo F., Calza L., Carla Re M., Pristera R., Turconi P., Mandas A., Tini S., Amadio G., Sighinolfi L., Corsi P., Di Pietro M., Colao G., Tosti A., Setti M., Cenderello G., Trezzi M., Orani A., Arcidiacono I., Degiuli A., De Gennaro M., Chiodera A., Scalzini A., Palvarini L., Todaro G., Rusconi S., Gismondo M.R., Micheli V., Biondi M.L., Capetti A., Meraviglia P., Boeri E., Mussini C., Soria A., Vecchi L., Santirocchi M., Brustia D., Ravanini P., Dal Bello F., Romano N., Mancuso S., Calzetti C., Maserati R., Filice G., Baldanti F., Parruti G., Polilli E., Sacchini D., Martinelli C., Consolini R., Vatteroni L., Vivarelli A., Nerli A., Lenzi L., Magnani G., Ortolani P., Andreoni M., Fimiani C., Palmisano L., Di Giambenedetto S., Vullo V., Turriziani O., Montano M., Antinori A., Zaccarelli M., Dentone C., Gonnelli A., De Luca A., Palumbo M., Ghisetti V., Delle Foglie P., Rossi C., Mondino V., Malena M., Grossi P., Seminari E., and Poletti F.
Subjects: Male, antiretroviral treatment, Infectious Disease Transmission, genotype, Human immunodeficiency virus (HIV), Drug Resistance, HIV Infections, Drug resistance, medicine.disease_cause, Retrospective Studie, Genotype, pol Gene Products, Human Immunodeficiency Viru, Prevalence, Medicine, Vertical, HIV Infection, Viral, pol Gene Products, Young adult, General Medicine, Infectious Diseases, Italy, Mutation (genetic algorithm), Female, Human Immunodeficiency Virus, Human, Microbiology (medical), Adult, Settore MED/17 - Malattie Infettive, Adolescent, Anti-HIV Agents, Young Adult, Acquired resistance, Drug Resistance, Viral, Humans, vertical HIV transmission, HIV-1, Mutation, Retrospective Studies, pol Gene Products, Human Immunodeficiency Virus, Infectious Disease Transmission, Vertical, HIV perinatally infection, business.industry, Anti-HIV Agent, Retrospective cohort study, Virology, Large cohort, business
Published: 2019

6. Missed opportunities to prevent mother-to-child transmission of HIV in Italy

Author: Di Biagio, A., Taramasso, L., Gustinetti, G., Burastero, G., Giacomet, V., La Rovere, D., Genovese, O., Giaquinto, C., Rampon, O., Carloni, I., Hyppolite, Tk., Palandri, L., Bernardi, S., Bruzzese, E., Badolato, R., Gabiano, C., Chiappini, E, De Martino, M, Galli, L., Osimani, P., Larovere, D., Ruggeri, M., Pession, A., Faldella, G., Capra, F., Pulcini, S., Zattoni, V., Dotta, L., Aliffi, A., Anastasio, E., Fiumana, E., Chiappini, E., Gervaso, P., Montagnani, C., De Martino, M., Viscoli, C., Erba, P., Zuccotti, G., Benincaso, A., Salvini, F., Lipreri, R., Esposito, S., Plebani, A., Tagliabue, C., Giubbarelli, F., Nicastro, E., Lo Vecchio, A., Buffolano, W., Agnese, M., Romano, A., Marcello, S., Pennazzato, M., Consolini, R., Dodi, I., Zanaboni, D., Palma, P., Pontrelli, G., Tchidjou, H., Mazza, A., Tovo, Pa., Silvestro, E., Virano, S., Portelli, V., Pellegatta, A., Di Biagio, A., Taramasso, L., Gustinetti, G., Burastero, G., Giacomet, V., La Rovere, D., Genovese, O., Giaquinto, C., Rampon, O., Carloni, I., Hyppolite, T. K., Palandri, L., Bernardi, S., Bruzzese, E., Badolato, R., Gabiano, C., Chiappini, E., De Martino, M., Galli, L., Osimani, P., Larovere, D., Ruggeri, M., Pession, A., Faldella, G., Capra, F., Pulcini, S., Zattoni, V., Dotta, L., Aliffi, A., Anastasio, E., Fiumana, E., Gervaso, P., Montagnani, C., Viscoli, C., Erba, P., Zuccotti, G., Benincaso, A., Salvini, F., Lipreri, R., Esposito, S., Plebani, A., Tagliabue, C., Giubbarelli, F., Nicastro, E., Lo Vecchio, A., Buffolano, W., Agnese, M., Romano, A., Marcello, S., Pennazzato, M., Consolini, R., Dodi, I., Zanaboni, D., Palma, P., Pontrelli, G., Tchidjou, H., Mazza, A., Tovo, P. A., Silvestro, E., Virano, S., Portelli, V., and Pellegatta, A.
Subjects: Male, 0301 basic medicine, Pediatrics, newborns, medicine.medical_treatment, children, HIV, missed opportunities, mothers, pregnancy, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Health Services Accessibility, Health Policy, Infectious Diseases, Pharmacology (medical), 0302 clinical medicine, newborn, Childbirth, Registries, 030212 general & internal medicine, Pregnancy Complications, Infectious, Transmission (medicine), mother, virus diseases, Settore MED/38, children, HIV, missed opportunities, mothers, newborns, pregnancy, Italy, Female, medicine.medical_specialty, Mother to child transmission, Anti-HIV Agents, Prenatal care, Risk Assessment, 03 medical and health sciences, medicine, Humans, Caesarean section, Peripartum Period, Pregnancy, Cesarean Section, business.industry, Infant, Newborn, Infant, medicine.disease, 030112 virology, Infectious Disease Transmission, Vertical, missed opportunitie, business
Abstract: OBJECTIVES: Vertical transmission of HIV can be effectively controlled through antenatal screening, antiretroviral treatment and the services provided during and after childbirth for mother and newborn. In Italy, the National Health Service guarantees universal access to prenatal care for all women, including women with HIV infection. Despite this, children are diagnosed with HIV infection every year. The aim of the study was to identify missed opportunities for prevention of mother-to-child transmission of HIV. METHODS: The Italian Register for HIV Infection in Children, which was started in 1985 and involves 106 hospitals throughout the country, collects data on all new cases of HIV infection in children. For this analysis, we reviewed the database for the period 2005 to 2015. RESULTS: We found 79 HIV-1-infected children newly diagnosed after birth in Italy. Thirty-two of the mothers were Italian. During the pregnancy, only 15 of 19 women with a known HIV diagnosis were treated with antiretroviral treatment, while, of 34 women who had received an HIV diagnosis before labour began, only 23 delivered by caesarean section and 17 received intrapartum prophylaxis. In 25 mothers, HIV infection was diagnosed during pregnancy or in the peripartum period. Thirty-one newborns received antiretroviral prophylaxis and 39 received infant formula. CONCLUSIONS: We found an unacceptable number of missed opportunities to prevent mother-to-child transmission (MCTC). Eliminating HIV MTCT is a universal World Health Organization goal. Elucidating organization failures in Italy over the past decade should help to improve early diagnosis and to reach the zero transmission target in newborns.
Published: 2019

7. Time to Switch to Second-line Antiretroviral Therapy in Children With Human Immunodeficiency Virus in Europe and Thailand

Author: Goetghebuer T, Hainaut M, Van der Kelen E, Delforge M, Warszawski J, Le Chenadec J, Ramos E, Dialla O, Wack T, Laurent C, Selmi L, Leymarie I, Benali F, Brossard M, Boufassa L, Floch-Tudal C, Firtion G, Hau I, Chace A, Bolot P, Blanche S, Granier M, Labrune P, Lachassine E, Dollfus C, Levine M, Fourcade C, Heller-Roussin B, Runel-Belliard C, Tricoire J, Monpoux F, Chirouze C, Reliquet V, Brouard J, Kebaili K, Fialaire P, Lalande M, Mazingue F, Partisani M, Koenigs C, Schultze-Strasser S, Baumann U, Niehues T, Neubert J, Kobbe R, Feiterna-Sperling C, Buchholz B, Notheis G, Spoulou V, Tovo P, Galli L, Chiappini E, Patrizia O, Larovere D, Ruggeri M, Faldella G, Baldi F, Badolato R, Montagnani C, Venturini E, Lisi C, Di Biagio A, Taramasso L, Giacomet V, Erba P, Esposito S, Lipreri R, Salvini F, Tagliabue C, Cellini M, Bruzzese E, Lo Vecchio A, Rampon O, Dona D, Romano A, Dodi I, Maccabruni A, Consolini R, Bernardi S, Genovese O, Olmeo P, Cristiano L, Mazza A, Garazzino S, Pellegatta A, Pajkrt D, Scherpbier H, Weijsenfeld A, van der Plas A, Jurriaans S, Back N, Zaaijer H, Berkhout B, Cornelissen M, Schinkel C, Wolthers K, Fraaij P, van Rossum A, van der Knaap L, Visser E, Boucher C, Koopmans M, van Kampen J, Pas S, Henriet S, de Flier M, van Aerde K, Strik-Albers R, Rahamat-Langendoen J, Stelma F, Scholvinck E, de Groot-de Jonge H, Niesters H, van Leer-Buter C, Knoester M, Bont L, Geelen S, Wolfs T, Nauta N, Ang C, van Houdt R, Pettersson A, Vandenbroucke-Grauls C, Reiss P, Bezemer D, van Sighem A, Smit C, Wit F, Boender T, Zaheri S, Hillebregt M, de Jong A, Bergsma D, Grivell S, Jansen A, Raethke M, Meijering R, de Groot L, van den Akker M, Bakker Y, Claessen E, El Berkaoui A, Koops J, Kruijne E, Lodewijk C, Munjishvili L, Peeck B, Ree C, Regtop R, Ruijs Y, Rutkens T, Schoorl M, Timmerman A, Tuijn E, Veenenberg L, van der Vliet S, Wisse A, Woudstra T, Tuk B, Marczynska M, Oldakowska A, Popielska J, Coupland U, Doroba M, Marques L, Teixeira C, Fernandes A, Prata F, Ene L, Gingaras C, Radoi R, Okhonskaia L, Voronin E, Miloenko M, Labutina S, Soler-Palacin P, Antoinette Frick M, Perez-Hoyos S, Mur A, Lopez N, Mendez M, Mayol L, Vallmanya T, Calavia O, Garcia L, Coll M, Pineda V, Rius N, Rovira N, Duenas J, Fortuny C, Noguera-Julian A, Jose Mellado M, Escosa L, Garcia Hortelano M, Sainz T, Isabel Gonzalez-Tome M, Rojo P, Blazquez D, Tomas Ramos J, Prieto L, Guillen S, Luisa Navarro M, Saavedra J, Santos M, Angeles Munoz M, Ruiz B, Fernandez Mc Phee C, Jimenez de Ory S, Alvarez S, Angel Roa M, Beceiro J, Martinez J, Badillo K, Apilanez M, Pocheville I, Garrote E, Colino E, Gomez Sirvent J, Garzon M, Roman V, Montesdeoca A, Mateo M, Jose Munoz M, Angulo R, Neth O, Falcon L, Terol P, Luis Santos J, Moreno D, Lendinez F, Grande A, Jose Romero F, Perez C, Lillo M, Losada B, Herranz M, Bustillo M, Guerrero C, Collado P, Antonio Couceiro J, Perez A, Isabel Piqueras A, Breton R, Segarra I, Gavilan C, Jareno E, Montesinos E, Dapena M, Alvarez C, Gloria Andres A, Marugan V, Ochoa C, Alfayate S, Isabel Menasalvas A, de Miguel E, Naver L, Soeria-Atmadja S, Hagas V, Aebi-Popp K, Asner S, Aubert V, Battegay M, Baumann M, Bernasconi E, Boni J, Brazzola P, Bucher H, Calmy A, Cavassini M, Ciuffi A, Duppenthaler A, Dollenmaier G, Egger M, Elzi L, Fehr J, Fellay J, Francini K, Furrer H, Fux C, Grawe C, Gunthard H, Haerry D, Hasse B, Hirsch H, Hoffmann M, Hosli I, Kahlert C, Kaiser L, Keiser O, Klimkait T, Kovari H, Kouyos R, Ledergerber B, Martinetti G, de Tejada M, Metzner K, Muller, Nicca D, Paioni P, Pantaleo G, Polli C, Posfay-Barbe K, Rauch A, Rudin C, Schmid P, Scherrer A, Speck R, Tarr P, Lecompte T, Trkola A, Vernazza P, Wagner N, Wandeler G, Weber R, Wyler C, Yerly S, Techakunakorn P, Prachanukroh C, Hansudewechakul R, Wanchaitanawong V, Theansavettrakul S, Nanta S, Ngampiyaskul C, Phanomcheong S, Hongsiriwon S, Karnchanamayul W, Chacheongsao B, Kwanchaipanich R, Kanjanavanit S, Prapinklao S, Kamonpakorn N, Nantarukchaikul M, Adulyadej B, Layangool P, Mekmullica J, Lucksanapisitkul P, Watanayothin S, Lertpienthum N, Warachit B, Hanpinitsak S, Potchalongsin S, Thanasiri P, Krikajornkitti S, Attavinijtrakarn P, Srirojana S, Bunjongpak S, Puangsombat A, Na-Rajsima S, Ananpatharachai P, Akarathum N, Phuket V, Lawtongkum W, Kheunjan P, Suriyaboon T, Saipanya A, Than-in-at K, Jaisieng N, Suaysod R, Chailoet S, Naratee N, Kawilapat S, Kaleeva T, Baryshnikova Y, Soloha S, Bashkatova N, Raus I, Glutshenko O, Ruban Z, Prymak N, Kiseleva G, Bailey H, Lyall H, Butler K, Doerholt K, Foster C, Klein N, Menson E, Riordan A, Shingadia D, Tudor-Williams G, Tookey P, Welch S, Collins I, Cook C, Dobson D, Fairbrother K, Gibb D, Judd A, Harper L, Parrott F, Tostevin A, Van Looy N, Walsh A, Scott S, Vaughan Y, Laycock N, Bernatoniene J, Finn A, Hutchison L, Sharpe G, Williams A, Lyall E, Seery P, Lewis P, Miles K, Subramaniam B, Hutchinson L, Ward P, Sloper K, Gopal G, Doherty C, Hague R, Price V, Bamford A, Bundy H, Clapson M, Flynn J, Novelli V, Ainsley-Walker P, Tovey P, Gurtin D, Garside J, Fall A, Porter D, Segal S, Ball C, Hawkins S, Chetcuti P, Dowie M, Bandi S, McCabe A, Eisenhut M, Handforth J, Roy P, Flood T, Pickering A, Liebeschuetz S, Kavanagh C, Murphy C, Rowson K, Tan T, Daniels J, Lees Y, Kerr E, Thompson F, Le Provost M, Cliffe L, Smyth A, Stafford S, Freeman A, Reddy T, Fidler K, Christie S, Gordon A, Rogahn D, Harris S, Collinson A, Jones L, Offerman B, Van Someren V, Benson C, Riddell A, O'Connor R, Brown N, Ibberson L, Shackley F, Faust S, Hancock J, Donaghy S, Prime K, Sharland M, Storey S, Gorman S, Monrose C, Walters S, Cross R, Broomhall J, Scott D, Stroobant J, Bridgwood A, McMaster P, Evans J, Gardiner T, Jones R, Gardiner K, European Pregnancy Paediat HIV Coh, Stichting HIV Monitoring, Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Department of Sciences for Woman and Child's Health, Florence University, Dipartimento di Pediatria, Azienda Ospedaliera di Padova, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Pediatrics, and Virology
Subjects: Male, 0301 basic medicine, Time Factors, HIV, antiretroviral therapy, children, second-line, switch, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Drug Resistance, INFANTS, HIV Infections, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Interquartile range, Antiretroviral Therapy, Highly Active, ADOLESCENTS, Cumulative incidence, Viral, Treatment Failure, 030212 general & internal medicine, Child, ComputingMilieux_MISCELLANEOUS, Antiretroviral therapy, Children, Second-line, Switch, Age Factors, Anti-HIV Agents, Child, Preschool, Drug Resistance, Viral, Drug Substitution, Europe, Female, Humans, Infant, Reverse Transcriptase Inhibitors, Thailand, Viral Load, Reverse-transcriptase inhibitor, Immunosuppression, OPEN-LABEL, VIROLOGICAL FAILURE, 3. Good health, Infectious Diseases, Viral load, medicine.drug, Microbiology (medical), medicine.medical_specialty, Efavirenz, Nevirapine, SCALE-UP, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Highly Active, Preschool, business.industry, HIV-1 DRUG-RESISTANCE, ADULTS, 030112 virology, RANDOMIZED-TRIAL, Regimen, INFECTED CHILDREN, VIRAL LOAD, chemistry, business
Abstract: Background. Data on durability of first-line antiretroviral therapy (ART) in children with human immunodeficiency virus (HIV) are limited. We assessed time to switch to second-line therapy in 16 European countries and Thailand.Methods. Children aged = 2 nucleoside reverse transcriptase inhibitors p[NRTIs] plus nonnucleoside reverse transcriptase inhibitor p[NNRTI] or boosted protease inhibitor p[PI]) were included. Switch to second-line was defined as (i) change across drug class (PI to NNRTI or vice versa) or within PI class plus change of >= 1 NRTI; (ii) change from single to dual PI; or (iii) addition of a new drug class. Cumulative incidence of switch was calculated with death and loss to follow-up as competing risks.Results. Of 3668 children included, median age at ART initiation was 6.1 (interquartile range (IQR), 1.7-10.5) years. Initial regimens were 32% PI based, 34% nevirapine (NVP) based, and 33% efavirenz based. Median duration of follow-up was 5.4 (IQR, 2.9-8.3) years. Cumulative incidence of switch at 5 years was 21% (95% confidence interval, 20%-23%), with significant regional variations. Median time to switch was 30 (IQR, 16-58) months; two-thirds of switches were related to treatment failure. In multivariable analysis, older age, severe immunosuppression and higher viral load (VL) at ART start, and NVP-based initial regimens were associated with increased risk of switch.Conclusions. One in 5 children switched to a second-line regimen by 5 years of ART, with two-thirds failure related. Advanced HIV, older age, and NVP-based regimens were associated with increased risk of switch.
Published: 2017
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8. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author: Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG
Subjects: Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract: Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.
Published: 2014

9. Combined antiretroviral therapy reduces hyperimmunoglobulinemia in HIV-1 infected children

Author: Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, DI BARI, DANIELA COLOMBA, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, CAVALLINI, RAFFAELLA, D'ANASTASIO, ELISABETTA, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, CECCHI, MARIA TERESA, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, PINZANI, ROBERTO, VIGANO', ALDO, Giacomet, V, Bianchi, R, SALVINI, FRANCESCO, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, DE MARCO, GIUSEPPINA, Tarallo, L, TANCREDI, FERNANDO ANTONIO, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, SANFILIPPO, ALESSIA, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, PALMA, PASQUALE, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, Molesini, M, Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, Di Bari, C, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, Cavallini, R, Anastasio, E, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, Cecchi, MT, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, Pinzani, R, Vigano, A, Giacomet, V, Bianchi, R, Salvini, F, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, De Marco, G, Tarallo, L, Tancredi, F, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, Sanfilippo, A, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, Palma, P, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, and Molesini, M
Subjects: Adult, medicine.medical_specialty, Adolescent, immunogiobulins, Immunology, immunoglobulins, combined antiretroviral therapy, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Gastroenterology, children, Hypergammaglobulinemia, Internal medicine, medicine, Humans, Immunology and Allergy, Child, Therapeutic regimen, biology, business.industry, Immunoglobulins, Intravenous, Infant, Normal population, hiv-1 infection, Settore MED/38, Antiretroviral therapy, HIV Reverse Transcriptase, Infectious Diseases, Child, Preschool, Intravenous IG, HIV-1, biology.protein, HIV-1 infection, Drug Evaluation, Reverse Transcriptase Inhibitors, Drug Therapy, Combination, Antibody, business, Viral load
Abstract: Objective: To evaluate the effect of combined antiretroviral therapy on serum immunoglobulin (Ig) levels in HIV-1 perinatally infected children.Methods: Data from 1250 children recorded by the Italian Register for HIV Infection in Children from 1985 to 2002 were analysed. Since Ig levels physiologically vary with age, differences at different age periods were evaluated as differences in z-scores calculated using means and standard deviations of normal population for each age period. Combined antiretroviral therapy has become widespread in Italy since 1996, thus differences in Ig z-scores between the periods 1985-1995 and 1996-2002 were analysed. Data according to type of therapeutic regimen were also analysed.Results: Between the two periods 1985-1995 and 1996-2002, significant (P < 0.0001) decreases in IgG (6.29 +/- 4.72 versus 4.44 +/- 4.33), IgM (9.25 +/- 13.32 versus 5.61 +/- 7.93), and IgA (10.25 +/- 15.68 versus 6.48 +/- 11.56) z-scores, together with a parallel significant (P < 0.0001) increase in CD4 T-lymphocyte percentages, were found. These decreases were confirmed regardless of whether the children were receiving intravenous Ig or not. Ig z-scores were significantly higher in children receiving mono-therapy than in those receiving double-combined therapy (IgG, P < 0.0001; IgM, P = 0.003; IgA, P = 0.031) and in the latter children than in those receiving three or more drugs (P < 0.0001 for all z-scores). Ig z-scores correlated inversely with CD4 T lymphocyte percentages and, directly, with viral loads.Conclusions: Our data show that in HIV-1 infected children combined antiretroviral therapy leads to reduction of hyperimmunoglobulinemia which parallels restoration of CD4 T-lymphocyte percentage and viral load decrease, which it turn probably reflects improved B-lymphocyte functions.(C) 2004 Lippincott Williams Wilkins.
Published: 2004
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10. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study

Author: Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigators, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, Cazzola G.A., PESSION, ANDREA, Quinti., I, Soresina, A., Guerra, A., Rondelli, R., Spadaro, Giuseppe, Agostini, C., Milito, C., Trombetta, A. C., Visentini, M., Martini, H., Plebani, A., Fiorilli, M., De Mattia, D., Martire, B., Cardinale, F., Ranieri, G., Silvestri, F., Masi, M., Pession, A., Cossu, F., Anastasio, E., Schillirò, G., Matucci, A., Vultaggio, A., Aricò, M., Pietrogrande, M. C., Delle Piane, R. M., Panisi, C., Cambiaghi, G., Pignata, Claudio, Putti, M. C., Trizzino, A., Bertolini, P., Consolini, R., Ugazio, A. G., Duse, M., Iacobini, M., Moschese, V., Cancrini, C., Finocchi, A., Pesce, A. M., Cagliuso, M., Conti, V., Granata, G., Mitrevski, M., Cecere, F., Tovo, P. A., Martino, S., Montin, D., Nespoli, L., Marinoni, M., Pellegrini, F. P., Cazzola, G. A., Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigator, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Pession A, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, and Cazzola GA.
Subjects: Male, bronchiectasis, X-linked agammaglobulinemia, Comorbidity, Gastroenterology, Immunoglobulin G, 0302 clinical medicine, Agammaglobulinemia, Risk Factors, Immunology and Allergy, Prospective Studies, Child, Prospective cohort study, 0303 health sciences, biology, Incidence, common variable immunodeficiency, Middle Aged, 3. Good health, Treatment Outcome, Italy, Female, Intravenous, Adult, x-linked agammaglobulinemia, medicine.medical_specialty, immunoglobulin replacement, Adolescent, effectiveness, iga, Immunology, Disease-Free Survival, Injections, Databases, 03 medical and health sciences, Immunoglobulin replacement, common variable immunodeficiency, X-linked agammaglobulinemia, bronchiectasis, IgA, effectiveness, Internal medicine, medicine, Humans, Risk factor, Preschool, Factual, Aged, 030304 developmental biology, Settore MED/38 - Pediatria Generale e Specialistica, Bronchiectasis, business.industry, Common variable immunodeficiency, Infant, Pneumonia, X-Linked, medicine.disease, Databases, Factual, Injections, Intravenous, Child, Preschool, Immunoglobulin A, Follow-Up Studies, Common Variable Immunodeficiency, Genes, X-Linked, Genes, biology.protein, Trough level, business, 030215 immunology
Abstract: A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently < 400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level < 7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.
Published: 2011

11. Duration of ruptured membranes and vertical transmission of HIV-1: a meta-analysis from 15 prospective cohort studies

Author: Bulterys, M. B., Fowler, M. G., Hanson, I. C., Lemay, M., Mayaux, M. J., Mofenson, L., Newell, M. -L., Peavy, H., Peckham, C., Read, J. S., Rother, C., Simpson, B. J., Van Dyke, R. B., Harris, D. R., Peavy, H. H., Easley, K., Khammy, A., Nugent, R. P., Mitchell, R., Owen, W., Van Dyke, R., Widmayer, S., Bardeguez, A., Hanson, C., Wiznia, A., Luzuriaga, K., Viscarello, R., Ho, D., Koup, R., Chen, I., Krogstad, P., Mullins, J., Wolinsky, S., Korber, B., Walker, B., Ammann, A., Clapp, S., Mcdonald, D., Lapointe, N., Boucher, M., Fauvel, M., Hankins, C., Samson, J., Newell, M. L., Peckham, C. S., Thorne, C. N., Giaquinto, C., Ruga, E., De Rossi, A., Truscia, D., Grosch-Worner, I., Schafer, A., Mok, J., Johnstone, F., Jiminez, J., de Alba, C., Garcia Rodriguez, M. C., Bates, I., de Josee, I., Hawkins, F., Martinez Zapico, R., Pena, J. M., Gonzalez Garcia, J., Arribas Lopez, J. R., Asensi-Botet, F., Otero, M. C., Peerez-Tamarit, D., Moya, A., Galbis, M. J., Scherpbier, H., Boer, K., Bohlin, A. B., Lindgren, S., Anzen, B., Belfrage, E., Lidin-Jansson, G., Levy, J., Barlow, P., Hainaut, M., Peltier, A., Ferrazin, A., De Maria, A., Gotta, C., Mur, A., Vinolas, M., Paya, A., Loepez-Vilchez, M. A., Coll, O., Fortuny, C., Boguna, J., Casellas Caro, M., Canet, Y., Pardi, G., Ravizza, M., Semprini, E., Castagna, C., Fiore, S., Guerra, B., Lanari, M., Bianchi, S., Bovicelli, L., Prati, E., Zanelli, S., Duse, M., Soresina, A., Scaravelli, G., Stegagno, M., De Santis, M., Muggiasca, M. L., Vigano, A., Spinillo, A., Ravagni Probizer, F., Bucceri, A., Rancilio, L., Taylor, G. P., Lyall, H., Penn, Z., Blott, M., Valerius, N. H., Martinelli, P., Buffolano, W., Tibaldi, C., Ziarati, N., Semprini, A., Della Torre, M., Parazzini, F., Dallacasa, P., Bianchi, U., Pachi, A., Mancuso, S., Villa, P., Conti, M., Principi, N., Muggiasca, M., Marchisio, P., Zara, C., Ravagni, F., Vignali, M., Rossi, G., Selvaggi, L., Greco, P., Vimercati, A., Massi, G., Innocenti, T., Fiscella, A., Sansone, M., Benedetto, C., Tadrist, B., Thevenieau, D., Gondry, J., Paulard, B., Alisy, C., Brault, D., Tordjeman, N., Mamou, J., Rozan, M., Colombani, D., Pincemaille, O., Salvetti, A., Chabanier, C., Hernandorena, X., Leroy, J., Schaal, J., Balde, P., Faucher, P., Lachassinne, E., Benoit, S., Douard, D., Hocke, C., Barjot, P., Brouard, J., Delattre, P., Stien, L., Audibert, F., Labrune, P., Vial, M., Mazy, F., Sitbon, D., Crenn-Hebert, C., Floch-Tudal, C., Akakpo, R., Daveau, C., Leblanc, A., Cesbron, P., Duval-Arnould, M., Huraux-Rendu, C., Lemerle, S., Touboul, C., Guerin, M., Maingueneau, C., Reynaud, I., Rousseau, T., Ercoil, V., Lanza, M., Denavit, M., Garnier, J., Lahsinat, K., Pia, P., Allouche, C., Nardou, M., Grall, F., May, A., Dallot, M., Lhuillier, P., Cecile, W., Mezin, R., Bech, A., Lobut, J., Algava, G., Chalvon Dermesay, A., Busuttil, R., Jacquemot, M., Bader-Meunier, B., Fridman, S., Codaccioni, X., Maxingue, F., Thomas, D., Alain, J., De Lumley, L., Tabaste, J., Bailly Salin, P., Seaume, H., Guichard, A., Kebaill, K., Roussouly, C., Botto, C., De Lanete, A., Wipff, P., Cravello, L., De Boisse, P., Leclaire, M., Michel, G., Crumiere, C., Lefevre, V., Le Lorier, B., Pauly, I., Robichez, B., Seguy, D., Delhinger, M., Rideau, F., Talon, P., Benos, P., Huret, C., Nicolas, J., Heller-Roussin, B., Saint-Leger, S., Delaporte, M., Hubert, C., De Sarcus, B., Karoubi, P., Mechinaud, F., Bertcrottiere, D., Bongain, A., Monpoux, F., De Gennes, C., Devianne, F., Nisand, I., Rousset, M., Mouchnino, G., Muray, J., Munzer, M., Quereux, C., Brossard, V., Clavier, B., Allemon, M., Rotten, D., Stephan, J., Varlet, M., Guyot, B., Narcy, P., Bardinet, F., De Caunes, F., Jeny, R., Robin, M., Raison Boulley, A., Savey, L., Berrebi, A., Tricoire, J., Borderon, J., Fignon, A., Guillot, F., Maria, B., Broyard, A., Chitrit, Y., Firtion, G., Mandelbrot, L., Lafay Pillet, M., Parat, S., Boissinot, C., Garec, N., Levine, M., Ottenwalter, A., Schaller, F., Vilmer, E., Courpotin, C., Brunner, C., Ciraru-Vigneron, N., Hatem-Gantzer, G., Fritel, X., Wallet, A., Bouille, J., Milliez, J., Bensaid Mrejen, D., Dermer, E., Noseda, G., Bardou, D., Cressaty, J., Francoual, C., Carlus Moncomble, C., Cohen, H., Blanche, S., Bastion, H., Benifla, J., Benkhatar, F., Berkane, N., Hervee, F., Ronzier, M., Mayaux, Mj., de Martino, M., Tovo, P. -A., Galli, L., Gabiano, C., Ferraris, G., Garetto, S., Palomba, E., Riva, C., Vierucci, A., de Luca, M., Farina, S., Fundaro, C., Genovese, O., Mereu, G., Forni, G. L., Casadei, A., Zuccotti, G. V., Riva, E., Cellini, M., Baraldi, C., Consolini, R., Palla, G., Ruggeri, M., Ciccimarra, F., Guarino, A., Osimani, P., Benaglia, G., Romano, A., De Mattia, D., Caselli, D., Boni, S., Dell'Erba, G., Bassanetti, F., Sticca, M., Timpano, C., Magnani, C., Salvatore, C., Lipreri, R., Tornaghi, R., Pinzani, R., Cecchi, M. T., Bezzi, T., Battisti, L., Bresciani, E., Castelli Gattinara, G., Nasi, C., Pellegatta, A., Mazza, A., Baldi, F., Altobelli, R., Deiana, M., Colnaghi, C., Tarallo, L., Tondo, U., Anastasio, E., Chiriaco, P. 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Isenschmid, M., Poorbeik, M., Schupbach, J., Perrin, L., Erb, P., Joller, H., Kovacs, A., Stek, A., Chan, L., Khoury, M., Diaz, C., Pacheco-Acosta, E., Tuomala, R., Cooper, E., Mesthene, D., Pitt, J., Higgins, A., Moroso, G., Rich, K., Turpin, D., Cooper, N., Davenny, K., Thompson, B., Andiman, W., Simpson, J., THE INTERNATIONAL PERINATAL HIV, Group, Martinelli, Pasquale, Bulterys M.B., Fowler M.G., Hanson I.C., Lemay M., Mayaux M.J., Mofenson L., Newell M.-L., Peavy H., Peckham C., Read J.S., Rother C., Simpson B.J., Van Dyke R.B., Harris D.R., Peavy H.H., Easley K., Khammy A., Nugent R.P., Mitchell R., Owen W., Van Dyke R., Widmayer S., Bardeguez A., Hanson C., Wiznia A., Luzuriaga K., Viscarello R., Ho D., Koup R., Chen I., Krogstad P., Mullins J., Wolinsky S., Korber B., Walker B., Ammann A., Clapp S., McDonald D., Lapointe N., Boucher M., Fauvel M., Hankins C., Samson J., Newell M.L., Peckham C.S., Thorne C.N., Giaquinto C., Ruga E., De Rossi A., Truscia D., Grosch-Worner I., 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Jacquemot M., Bader-Meunier B., Fridman S., Codaccioni X., Maxingue F., Thomas D., Alain J., De Lumley L., Tabaste J., Bailly Salin P., Seaume H., Guichard A., Kebaill K., Roussouly C., Botto C., De Lanete A., Wipff P., Cravello L., De Boisse P., Leclaire M., Michel G., Crumiere C., Lefevre V., Le Lorier B., Pauly I., Robichez B., Seguy D., Delhinger M., Rideau F., Talon P., Benos P., Huret C., Nicolas J., Heller-Roussin B., Saint-Leger S., Delaporte M., Hubert C., De Sarcus B., Karoubi P., Mechinaud F., Bertcrottiere D., Bongain A., Monpoux F., De Gennes C., Devianne F., Nisand I., Rousset M., Mouchnino G., Muray J., Munzer M., Quereux C., Brossard V., Clavier B., Allemon M., Rotten D., Stephan J., Varlet M., Guyot B., Narcy P., Bardinet F., De Caunes F., Jeny R., Robin M., Raison Boulley A., Savey L., Berrebi A., Tricoire J., Borderon J., Fignon A., Guillot F., Maria B., Broyard A., Chitrit Y., Firtion G., Mandelbrot L., Lafay Pillet M., Parat S., Boissinot C., Garec N., Levine M., Ottenwalter A., Schaller F., Vilmer E., Courpotin C., Brunner C., Ciraru-Vigneron N., Hatem-Gantzer G., Fritel X., Wallet A., Bouille J., Milliez J., Bensaid Mrejen D., Dermer E., Noseda G., Bardou D., Cressaty J., Francoual C., Carlus Moncomble C., Cohen H., Blanche S., Bastion H., Benifla J., Benkhatar F., Berkane N., Hervee F., Ronzier M., Mayaux MJ., de Martino M., Tovo P.-A., Galli L., Gabiano C., Ferraris G., Garetto S., Palomba E., Riva C., Vierucci A., de Luca M., Farina S., Fundaro C., Genovese O., Mereu G., Forni G.L., Casadei A., Zuccotti G.V., Riva E., Cellini M., Baraldi C., Consolini R., Palla G., Ruggeri M., Ciccimarra F., Guarino A., Osimani P., Benaglia G., Romano A., De Mattia D., Caselli D., Boni S., Dell'Erba G., Bassanetti F., Sticca M., Timpano C., Magnani C., Salvatore C., Lipreri R., Tornaghi R., Pinzani R., Cecchi M.T., Bezzi T., Battisti L., Bresciani E., Castelli Gattinara G., Nasi C., Pellegatta A., Mazza A., Baldi F., Altobelli R., Deiana M., Colnaghi C., Tarallo L., Tondo U., Anastasio E., Chiriaco P.G., Ruggeri C., Scott G., Hutto C., O'Sullivan M., Malmsberry A., Willoughby A., Burns D., Goedert J., Landesman S., Minkoff H., Mendez H., Holman S., Rubinstein A., Durako S., Muenz L., Goodwin S., Bryson Y., Dillon M., Nielsen K., Boyer P., Liao D., Keller M., Deveikis A., Nesheim S., Lindsay M., Lee F., Nahmias A., Sawyer M., Vink P., Farley J., Alger L., Abrams E., Bamji M., Lambert G., Schoenbaum E., Thomas P., Weedon J., Palumbo P., Denny T., Oleske J., Bulterys M., Simonds R., Ethier-Ives J., Rogers M., Schluchter M., Kutner M., Kaplan S., Kattan M., Lipshultz S., Mellins R., Shearer W., Sopko G., Sloand E., Wu M., Kind C., Nadal D., Rudin C., Siegrist C.-A., Wyler C.-A., Cheseaux J.-J., Aebi C., Gnehm H., Schubiger G., Klingler J., Hunziker U., Kuchler H., Gianinazzi M., Buhlmann U., Biedermann K., Lauper U., Irion O., Brunelli A., Spoletini G., Schreyer A., Hosli I., Saurenmann E., Drack G., Isenschmid M., Poorbeik M., Schupbach J., Perrin L., Erb P., Joller H., Kovacs A., Stek A., Chan L., Khoury M., Diaz C., Pacheco-Acosta E., Tuomala R., Cooper E., Mesthene D., Pitt J., Higgins A., Moroso G., Rich K., Turpin D., Cooper N., Davenny K., Thompson B., Andiman W., and Simpson J.
Subjects: Time Factors, Epidemiology, Infectious Disease Transmission, Prevention of perinatal transmission, Extraembryonic Membranes, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Cohort Studies, Pregnancy, Risk Factors, INFECTION, Vertical, Immunology and Allergy, HIV Infection, MOTHER-TO-CHILD, Pregnancy Complications, Infectious, Prospective cohort study, prevention of perinatal transmission, vertical transmission, obstetrics/gynaecology, epidemiology, Obstetrics, Transmission (medicine), Infectious, HUMAN-IMMUNODEFICIENCY-VIRUS, MOTHER-TO-CHILD, ZIDOVUDINE PROPHYLAXIS, RISK-FACTORS, TYPE-1, PREGNANCY, INFECTION, TRIAL, PREVENTION, Breast Feeding, Infectious Diseases, Meta-analysis, HUMAN-IMMUNODEFICIENCY-VIRUS, Vertical transmission, Regression Analysis, TRIAL, Female, Delivery, Obstetrics gynaecology, Human, medicine.medical_specialty, Time Factor, Ruptured membranes, Immunology, Regression Analysi, NO, ZIDOVUDINE PROPHYLAXIS, Extraembryonic Membrane, medicine, Humans, TYPE-1, business.industry, Risk Factor, Infant, Newborn, Infant, Obstetric, Delivery, Obstetric, Newborn, PREVENTION, Infectious Disease Transmission, Vertical, Pregnancy Complications, Obstetrics/gynaecology, RISK-FACTORS, Cohort Studie, business
Abstract: Objective: To test the a priori hypothesis that longer duration of ruptured membranes is associated with increased risk of vertical transmission of HIV. Design: The relationship between duration of ruptured membranes and vertical transmission of HIV was evaluated in an individual patient data meta-analysis. Methods: Eligible studies were prospective cohort studies including at least 100 mother-child pairs, from regions where HIV-infected women are counselled not to breastfeed. Analyses were restricted to vaginal deliveries and non-elective Cesarean sections; elective Cesarean section deliveries (those performed before onset of labour and before rupture of membranes) were excluded. Results: The primary analysis included 4721 deliveries with duration of ruptured membranes ≤ 24 h. After adjusting for other factors known to be associated with vertical transmission using logistic regression analysis to assess the strength of the relationship, the risk of vertical HIV transmission increased approximately 2% with an increase of 1 h in the duration of ruptured membranes [adjusted odds ratio, 1.02; 95% confidence interval, 1.01-1.04; for each 1 h increment]. There were no significant interactions of duration of ruptured membranes with study cohort or with any of the covariates, except maternal AIDS. Among women diagnosed with AIDS, the estimated probability of transmission increased from 8% to 31% with duration of ruptured membranes of 2 h and 24 h respectively (P < 0.01). Conclusions: These results support the importance of duration of ruptured membranes as a risk factor for vertical transmission of HIV and suggest that a diagnosis of AIDS in the mother at the time of delivery may potentiate the effect of duration of ruptured membranes. © 2001 Lippincott Williams & Wilkins.
Published: 2001
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12. Corrigendum to: 'Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)' [Vaccine 36 (2018) Pages 3541–3542]

Author: Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, Mc, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, Gl, Bossi, G, Consolini, R, and Et, Al.
Subjects: ANTIBODY-RESPONSES, Secondary immunodeficiency KeyWords Plus:CHRONIC GRANULOMATOUS-DISEASE, ADVISORY-COMMITTEE, ROTAVIRUS VACCINATION, IMMUNIZATION PRACTICES, Medicine, HUMORAL IMMUNITY, Author Keywords:Vaccination, Primary immunodeficiency, Syndromic immunodeficiency, ACUTE LYMPHOBLASTIC-LEUKEMIA, CALMETTE-GUERIN, POLYSACCHARIDE VACCINATION, MENDELIAN SUSCEPTIBILITY, General Veterinary, General Immunology and Microbiology, business.industry, Public Health, Environmental and Occupational Health, medicine.disease, Virology, Vaccination, Infectious Diseases, Molecular Medicine, business, Host (network)
Published: 2018
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13. Genotypic resistance profiles associated with virological failure to darunavir-containing regimens: a cross-sectional analysis

Author: Sterrantino, G, Zaccarelli, M, Colao, G, Baldanti, F, Di Giambenedetto, S, Carli, T, Maggiolo, F, Zazzi, M, Giacometti, A, Butini, L, Del Gobbo, R, Bagnarelli, P, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Callegaro, A, Calza, L, Re, MC, Pristera, R, Turconi, P, Mandas, A, Tini, S, Zoncada, A, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Corsi, P, Galli, L, Di Pietro, M, Bartalesi, F, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, di Biagio, A, Penco, G, Trezzi, M, Orani, A, Pardelli, R, Arcidiacono, I, Degiuli, A, de Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Cicconi, P, Rusconi, S, Gismondo, MR, Micheli, V, Biondi ML, Gianotti, N, Capetti, A, Meraviglia, P, Boeri, E, Mussini, C, Pecorari, M, Soria, A, Vecchi, L, Gerardo, AO, Santirocchi, M, Brustia, D, Maggiore, AO, Ravanini, P, Bello, FD, Romano, N, MANCUSO, Salvatrice, Calzetti, C, Maserati, R, Filice, G, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, di Giambenedetto, S, Colafigli, M, Vullo, V, Turriziani, O, Montano, M, Antinori, A, Dentone, C, Gonnelli, A, de Luca, A, Palumbo, M, Ghisetti, V, Bonora, S, Foglie, PD, Rossi, C, Mondino, V, Malena, M, Grossi, P, Seminari, E, Poletti, F., Sterrantino, G, Zaccarelli, M, Colao, G, Baldanti, F, Di Giambenedetto, S, Carli, T, Maggiolo, F, Zazzi, M, Giacometti, A, Butini, L, Del Gobbo, R, Bagnarelli, P, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Callegaro, A, Calza, L, Re, MC, Pristera, R, Turconi, P, Mandas, A, Tini, S, Zoncada, A, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Corsi, P, Galli, L, Di Pietro, M, Bartalesi, F, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, di Biagio, A, Penco, G, Trezzi, M, Orani, A, Pardelli, R, Arcidiacono, I, Degiuli, A, de Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Cicconi, P, Rusconi, S, Gismondo, MR, Micheli, V, Biondi ML, Gianotti, N, Capetti, A, Meraviglia, P, Boeri, E, Mussini, C, Pecorari, M, Soria, A, Vecchi, L, Gerardo, AO, Santirocchi, M, Brustia, D, Maggiore, AO, Ravanini, P, Bello, FD, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Filice, G, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, di Giambenedetto, S, Colafigli, M, Vullo, V, Turriziani, O, Montano, M, Antinori, A, Dentone, C, Gonnelli, A, de Luca, A, Palumbo, M, Ghisetti, V, Bonora, S, Foglie, PD, Rossi, C, Mondino, V, Malena, M, Grossi, P, Seminari, E, and Poletti, F
Subjects: Male, Time Factors, Cross-sectional study, Human immunodeficiency virus (HIV), Drug Resistance, HIV Infections, Drug resistance, medicine.disease_cause, Cohort Studies, Antiretroviral Therapy, Highly Active, Ritonavir-boosted darunavir, Genotype, HIV Infection, Treatment Failure, Viral, Genotypic resistance, Darunavir, Sulfonamides, General Medicine, Middle Aged, Virological failure, Infectious Diseases, Female, Human, medicine.drug, Adult, Microbiology (medical), Logistic Model, Time Factor, Antiretroviral Therapy, Settore MED/17 - MALATTIE INFETTIVE, Sulfonamide, Drug Resistance, Viral, medicine, Humans, Highly Active, Protease inhibitors, Cross-Sectional Studies, HIV Protease Inhibitors, HIV-1, Logistic Models, Mutation, HIV Protease Inhibitor, Cross-Sectional Studie, business.industry, Antiretroviral therapy, Virology, Protease inhibitor, Cohort Studie, business
Abstract: Introduction: This study aimed at defining protease (PR) resistance mutations associated with darunavir (DRV) failure and PR resistance evolution at DRV failure in a large database of treatment-experienced human immunodeficiency virus (HIV) patients. Results: Overall, 1,104 patients were included: 118 (10.7%) failed at a median observation time of 16 months. The mean number of PR mutations at baseline was 2.7, but it was higher in patients who subsequently failed DRV. In addition, the number of PR mutations increased at failure. The increase in the mean number of mutations was completely related to mutations considered to be associated with DRV resistance following the indications of the main DRV clinical trials. Discussion The higher statistical difference at baseline between failing versus non-failing patients was observed for the V32I and I84V mutations. At DRV failure, the major increase was still observed for V32I; I54L, V11I, T74P and I50V also increased. Despite the increment in the mean number of mutations per patient between baseline and failure, in 21 patients (17.8%) at baseline and 36 (30.5%) at failure, no PR mutation was detected. Conclusion: The HIV-DB interpretation algorithm identified few patients with full DRV resistance at baseline and few patients developed full resistance at DRV failure, indicating that complete resistance to DRV is uncommon. © Springer-Verlag 2011.
Published: 2012

14. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author: Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.
Subjects: Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract: Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.
Published: 2009

15. A Pre-HAART Follow-up Study of the Hematologic Manifestations in Children With Perinatal HIV-1 Infection: Suggestions for Reclassification of Clinical Staging

Author: Consolini R, Bencivelli W, Legitimo A, Galli L, Tovo P, Gabiano C, De Martino M, for the Italian Register for HIV infection in children [ . . ., MASI, MASSIMO, Consolini R, Bencivelli W, Legitimo A, Galli L, Tovo P, Gabiano C, De Martino M, for the Italian Register for HIV infection in children [ .., Masi M, and ]
Subjects: medicine.medical_specialty, Anemia, HIV Infections, Disease, Perinatal hiv, Single entity, Internal medicine, medicine, Humans, Intensive care medicine, Survival analysis, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Follow up studies, Infant, Hematology, Prognosis, medicine.disease, Hematologic Diseases, Survival Analysis, Antiretroviral therapy, Italy, Oncology, Pediatrics, Perinatology and Child Health, Disease Progression, HIV-1, business, Follow-Up Studies
Abstract: Hematologic manifestations in perinatally human immunodeficiency virus-1-infected children have not been widely described in literature. Knowledge of the spontaneous evolution of this disease is essential for achieving optimum care of patients. We analyzed the main hematologic manifestations developed in the prehighly active antiretroviral therapy period of 1217 children, collected from the Italian Register for HIV infection. In 111 patients, the hematologic sign was the first clinical manifestation. Among anemic and neutropenic patients, the fraction of patients in clinical class C was significantly higher than the corresponding fraction in class B (76%, P
Published: 2007

16. The Mode of Delivery and the Risk of Vertical Transmission of Human Immunodeficiency Virus Type 1 — A Meta-Analysis of 15 Prospective Cohort Studies

Author: Andiman, W., Boucher, M., Burns, D., Bryson, Y., Farley, J., Fowler, H., Gabiano, C., Galli, L., Hutto, C., Kind, C., Korber, B., Kovacs, A., Krogstad, P., Landesman, S., Lapointe, N., Lemay, M., Lew, J., Mandelbrot, L., Mayaux, Mj, Mellins, R., Minkoff, H., Mofenson, L., Nielsen, K., Newell, Ml, Pardi, G., Peavy, H., Peckham, C., Read, J., Rother, C., Rudin, C., Scott, G., Semprini, A., Shearer, W., Simonds, R., Simpson, B., Stek, A., Tovo, Pa, Tuomala, R., Dyke, R., Weedon, J., Martino, M., Lindsay, M., Belair, S., Chan, L., Harris, D., Kalish, L., Muenz, L., Nugent, R., Schluchter, M., Durako, S., Goodwin, S., Mitchell, R., Nourjah, P., Owen, W., Widmayer, S., Bardeguez, A., Hanson, C., Wiznia, A., Luzuriaga, K., Viscarello, R., Ho, D., Koup, R., Chen, I., Mullins, J., Wolinsky, S., Walker, B., Ammann, A., Clapp, S., Mcdonald, D., Fauvel, M., Hankins, C., Samson, J., Bailey, A., Giaquinto, C., Ruga, E., Rossi, A., Truscia, D., Grosch-Worner, I., Schafer, A., Mok, J., Johnstone, F., Jiminez, J., Alba, C., Garcia-Rodriguez, M., Bates, I., Jose, I., Hawkins, F., Zapico, Rm, Asensi-Botet, F., Otero, M., Perez-Tamarit, D., Moya, A., Galbis, M., Scherpbier, H., Boer, K., Bohlin, A., Lindgren, S., Ehrnst, A., Anzen, B., Belfrage, E., Levy, J., Alimenti, A., Barlow, P., Ferrazin, A., Maria, A., Gotta, C., Maritati, V., Mur, A., Rovira, M., Paya, A., Coll, O., Fortuny, C., Boguna, J., Caro, Mc, Canet, Y., Ravizza, M., Castagna, C., Fiore, S., Guerra, B., Lanari, M., Bianchi, S., Bovicelli, L., Prati, E., Duse, M., Soresina, A., Scaravelli, G., Santis, M., Muggiasca, M., Vigano, A., Marchisio, P., Iasci, A., Spinillo, A., Bucceri, A., Grossi, E., Rancilio, L., Della Torre, M., Dallacasa, P., Pachi, A., Principi, N., Zara, C., Vignali, M., Rossi, G., Selvaggi, L., Greco, P., Vimercati, A., Massi, G., Innocenti, T., Fiscella, A., Sansone, M., Benedetto, C., Tibaldi, C., Ziarati, N., Tadrist, B., Thevenicau, D., Gondry, J., Paulard, B., Alisy, C., Brault, D., Tordjeman, P., Mamou, J., Rozan, M., Colombani, D., Pincemaille, O., Salvetti, A., Chabanier, C., Hernandorena, X., Leroy, J., Schaal, J., Balde, P., Faucher, P., Lachassinne, E., Benoit, S., Douard, D., Hocke, C., Barjot, P., Brouard, J., Delattre, P., Stien, L., Audibert, F., Labrune, P., Vial, M., Mazy, F., Sitbon, D., Crenn-Hebert, C., Floch-Tudal, C., Akakpo, R., Daveau, C., Leblanc, A., Cesbron, P., Duval-Arnould, H., Huraux-Rendu, C., Lemerle, S., Touboul, C., Guerin, M., Maingueneau, C., Reynaud, I., Rousseau, T., Ercoil, V., Lanza, M., Denavit, M., Garnier, J., Lahsinat, K., Pia, R., Allouche, C., Nardou, M., Grall, F., May, A., Dallot, M., Lhuillier, P., Cecile, W., Mezin, R., Bech, A., Lobut, J., Algava, G., Dermesay, Ac, Busuttil, R., Jacquemot, M., Bader-Meunier, B., Fridman, S., Codaccioni, X., Maxingue, F., Thomas, D., Alain, J., Lumley, L., Tabaste, J., Salin, Pb, Seaume, H., Guichard, A., Kebaili, K., Roussouly, C., Botto, C., Lanete, A., Wipff, P., Cravello, L., Boisse, P., Leclaire, M., Michel, G., Crumiere, C., Lefevre, V., Le Lorier, B., Pauly, I., Robichez, B., Seguy, D., Dehlinger, M., Rideau, F., Talon, P., Benos, P., Huret, C., Nicolas, J., Heller-Roussin, B., Saint-Leger, S., Delaporte, M., Hubert, C., Sarcus, B., Karoubi, P., Mechinaud, F., Bertcrottiere, D., Bongain, A., Monpoux, F., Gennes, C., Devianne, F., Nisand, I., Rousset, M., Mouchnino, G., Muray, J., Munzer, M., Quereux, C., Brossard, V., Clavier, B., Allemon, M., Rotten, D., Stephan, J., Varlet, M., Guyot, B., Narey, P., Bardinet, F., Caunes, F., Jeny, R., Robin, M., Bouley, Ar, Savey, L., Berrebi, A., Tricoire, J., Borderon, J., Fignon, A., Guillot, F., Maria, B., Broyard, A., Chitrit, Y., Firtion, G., Pillet, Ml, Parat, S., Boissinot, C., Garec, N., Levine, M., Ottenwalter, A., Schaller, F., Vilmer, B., Courpotin, C., Brunner, C., Ciraru-Vigneron, N., Hatem-Gantzer, G., Xavier FRITEL, Wallet, A., Bouille, J., Milliez, J., Mrejen, Db, Dermer, E., Noseda, G., Bardou, D., Cressaty, J., Francoual, C., Moncomble, Cc, Cohen, H., Blanche, S., Bastion, H., Benifla, J., Benkhatar, F., Berkane, N., Herve, F., Ronzier, M., Ferraris, G., Rancillo, L., Tulisso, S., Scolfaro, C., Riva, C., Vierucci, A., Luca, M., Farina, S., Fundaro, C., Genovese, O., Mercu, G., Forni, G., Stegagno, M., Falconieri, P., Zuccotti, G., Riva, E., Cellini, M., Baraldi, C., Consolini, R., Palla, G., Ruggeri, M., Pignata, C., Guarino, A., Osimani, P., Metri, A., Antonellini, A., Benaglia, G., Romano, A., Mattia, D., Caselli, D., Boni, S., Erba, G., Bassanetti, F., Sticca, M., Timpano, C., Magnani, C., Salvatore, C., Gambaretto, G., Lipreri, R., Tornaghi, R., Pinzani, R., Cecchi, M., Bezzi, T., Battisti, L., Bresciani, E., Gattinara, G., Berrino, R., Pellegatta, A., Mazza, A., Baldi, F., Micheletti, E., Altobelli, R., Deiana, M., Colnaghi, C., Tarallo, L., Tondo, U., Anastasio, E., Chiriaco, P., Contardi, I., Ruggeri, C., Ibba, P., O Sullivan, M., Malmsberry, A., Willoughby, A., Goedert, J., Mendez, H., Holman, S., Rubinstein, A., Nesheim, S., Clark, S., Lee, F., Nahmias, A., Sawyer, M., Vink, P., Alger, L., Abrams, E., Bamji, M., Lambert, G., Schoenbaum, E., Thea, D., Thomas, P., Palumbo, P., Denny, T., Oleske, J., Orloff, S., Ethier-Ives, J., Rogers, M., Kutner, M., Kaplan, S., Kattan, M., Lipshultz, S., Sopko, G., Sloand, E., Wu, M., Nadal, D., Siegrist, Ca, Wyler, Ca, Cheseaux, Jj, Aebi, C., Gnehm, H., Schubiger, G., Klingler, J., Hunziker, U., Kuchler, H., Gianinazzi, M., Buhlmann, U., Biedermann, K., Lauper, U., Irion, O., Brunelli, A., Spoletini, G., Schreyer, A., Hosli, I., Saurenmann, E., Drack, G., Isenschmid, M., Poorbeik, M., Schupbach, J., Perrin, L., Erb, P., Joller, H., Dillon, M., Nielsen, R., Boyer, P., Liao, D., Keller, M., Deveikis, A., Khoury, M., Diaz, C., Pacheco-Acosta, E., Cooper, E., Mesthene, D., Pitt, J., Higgins, A., Moroso, G., Rich, K., Turpin, D., Cooper, N., Fowler, M., Smeriglio, V., Mckinlay, S., and Ellis, S.
Subjects: Male, medicine.medical_specialty, Multivariate analysis, Anti-HIV Agents, Birth weight, HIV Infections, Cohort Studies, Pregnancy, Risk Factors, medicine, Birth Weight, Humans, Rupture of membranes, Pregnancy Complications, Infectious, Prospective cohort study, Cesarean Section, Obstetrics, business.industry, Infant, Newborn, General Medicine, Odds ratio, Delivery, Obstetric, medicine.disease, Infectious Disease Transmission, Vertical, Confidence interval, Logistic Models, Multivariate Analysis, Immunology, HIV-1, Female, business, Zidovudine, Cohort study
Abstract: Background To evaluate the relation between elective cesarean section and vertical transmission of human immunodeficiency virus type 1 (HIV-1), we performed a meta-analysis using data on individual patients from 15 prospective cohort studies. Methods North American and European studies of at least 100 mother-child pairs were included in the meta-analysis. Uniform definitions of modes of delivery were used. Elective cesarean sections were defined as those performed before onset of labor and rupture of membranes. Multivariate logistic-regression analysis was used to adjust for other factors known to be associated with vertical transmission. Results The primary analysis included data on 8533 mother-child pairs. After adjustment for receipt of antiretroviral therapy, maternal stage of disease, and infant birth weight, the likelihood of vertical transmission of HIV-1 was decreased by approximately 50 percent with elective cesarean section, as compared with other modes of delivery (adjusted odds ratio, 0.43; 95 percent confidence interval, 0.33 to 0.56). The results were similar when the study population was limited to those with rupture of membranes shortly before delivery. The likelihood of transmission was reduced by approximately 87 percent with both elective cesarean section and receipt of antiretroviral therapy during the prenatal, intrapartum, and neonatal periods, as compared with other modes of delivery and the absence of therapy (adjusted odds ratio, 0.13; 95 percent confidence interval, 0.09 to 0.19). Among mother-child pairs receiving antiretroviral therapy during the prenatal, intrapartum, and neonatal periods, rates of vertical transmission were 2.0 percent among the 196 mothers who underwent elective cesarean section and 7.3 percent among the 1255 mothers with other modes of delivery. Conclusions The results of this meta-analysis suggest that elective cesarean section reduces the risk of transmission of HIV-1 from mother to child independently of the effects of treatment with zidovudine.
Published: 1999
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17. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

Author: Plebani, A, Soresina, A, Rondelli, R, Amato, Gm, Azzari, C, Cardinale, F, Cazzola, G, Consolini, R, De Mattia, D, Dell'Erba, G, Duse, M, Fiorini, M, Martino, Silvana, Martire, B, Masi, M, Monafo, V, Moschese, V, Notarangelo, Ld, Orlandi, P, Panei, P, Pession, A, Pietrogrande, Mc, Pignata, C, Quinti, I, Ragno, V, Rossi, P, Sciotto, A, Stabile, A, Italian Pediatric Group for XLA AIEOP, Plebani, A., Soresina, A., Rondelli, R., Amato, G. M., Azzari, C., Cardinale, F., Cazzola, G., Consolini, R., DE MATTIA, D., Dell'Erba, G., Duse, M., Fiorini, M., Martino, S., Martire, B., Masi, M., Monafo, V., Moschese, V., Notarangelo, L. D., Orlandi, P., Panei, P., Pession, A., Pietrogrande, M. C., Pignata, Claudio, Quinti, I., Ragno, V., Rossi, P., Sciotto, A., and Stabile, A.
Subjects: Lung Diseases, Adult, Male, Pediatrics, medicine.medical_specialty, Genetic Linkage, Agammaglobulinemia, Humans, Infant, Newborn, Protein-Tyrosine Kinases, Child, Child, Preschool, X Chromosome, Immunoglobulins, Intravenous, Cohort Studies, Chronic Disease, Follow-Up Studies, Adolescent, Mutation, clinical features, X-linked agammaglobulinemia, Immunology, Immunoglobulins, infections, intravenous immunoglobulin, BTK mutation, Sepsis, Immunopathology, Epidemiology, medicine, Agammaglobulinaemia Tyrosine Kinase, Immunology and Allergy, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, BTK mutations, business.industry, Chronic sinusitis, Meningoencephalitis, Infant, medicine.disease, Newborn, agammaglobulinemia, business, Intravenous, Meningitis, Cohort study
Abstract: A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG.
Published: 2002

18. Puberty in perinatal HIV-1 infection: a multicentre longitudinal study of 212 children

Author: de Martino M, Tovo PA, Galli L, Gabiano C, Chiarelli F, Zappa M, Gattinara GC, Bassetti D, Giacomet V, Chiappini E, Duse M, Garetto S, Caselli D, Italian Register for HIV infection in Children ( Catania S, FundaroÁ C, Cellini M, Lipreri R, Zuccotti GV, Cecchi MT, Mazza A, Masi M, Consolini R, Bezzi MT, Benaglia G, Ganau A., GUARINO, ALFREDO, de Martino, M, Tovo, Pa, Galli, L, Gabiano, C, Chiarelli, F, Zappa, M, Gattinara, Gc, Bassetti, D, Giacomet, V, Chiappini, E, Duse, M, Garetto, S, Caselli, D, Italian Register for HIV infection in Children, ( Catania S, Fundaroá, C, Cellini, M, Lipreri, R, Zuccotti, Gv, Cecchi, Mt, Guarino, Alfredo, Mazza, A, Masi, M, Consolini, R, Bezzi, Mt, Benaglia, G, and Ganau, A.
Subjects: Male, Percentile, Pediatrics, medicine.medical_specialty, Longitudinal study, adolescence, HIV-1, perinatal infection, puberty, Tanner stage, Adolescent, Anti-HIV Agents, Immunology, HIV Infections, Age Distribution, Acquired immunodeficiency syndrome (AIDS), Immunopathology, medicine, Immunology and Allergy, Humans, Longitudinal Studies, Child, Rank correlation, business.industry, Puberty, Infant, Newborn, medicine.disease, Confidence interval, Log-rank test, Fetal Diseases, Infectious Diseases, El Niño, Female, business
Abstract: OBJECTIVE: To define age at entry into Tanner stages in children with perinatal HIV-1 infection. DESIGN: Multicentre longitudinal study including 212 perinatally HIV-1-infected children (107 girls and 105 boys) followed-up during puberty (from 8 and 9 years onwards in girls and boys, respectively). Healthy children (843 girls and 821 boys) provided reference percentiles. P2 or B2 stages in girls and P2 or G2 stages in boys defined onset of puberty. METHODS: The cumulative probability [95% confidence limit (CI)] of entry into each stage at different ages was estimated by the Kaplan-Meier product-limit method; differences were evaluated by log rank test. Relationships were tested using the Spearman's rank correlation coefficient. RESULTS: Ages of girls [years (95%CI)] at P2 [12.9 (12.6-13.2)], P3 [13.4 (13.0-13.8)], P4 [14.6 (14.0-15.2)], B2 [12.7 (12.2-13.2)], B3 [13.3 (12.8-14.0)] and B4 [14.6 (14.0-15.2)] stages were > 97th percentile (> or = 21 month delay) of controls. Ages of boys [years (95%CI)] at P2 [12.6 (12.1-13.1)], P3 [13.9 (13.4-14.4)], P4 [14.9 (14.2-15.6)], G2 [12.1 (11.5-12.7)], G3 [13.6 (13.1-14.1)] and G4 [14.9 (14.1-15.7)] stages were at the 75-97th percentiles (< or = 15 month delay). Age at onset of puberty was not related to clinical and immunological condition, antiretroviral treatment, weigh for height and age at onset of severe disease or immune suppression. CONCLUSION: Perinatal HIV-1 infection interferes with sexual maturation. The mechanisms by which this occurs should be elucidated and intervention strategies designed. Intervention could save much psychological distress, since associated linear growth failure can exacerbate adolescents' feelings of being different and unwell.
Published: 2001

19. HIV-1 transmission through breast-milk

Author: De Martino, M., Tovo, P. A., Tozzi, A. E., Pezzotti, P., Galli, L., Liviadotti, S., Caselli, D., Marchisio, P., Giaquinto, G., Fioredda, F., Plebani, A., Gabiano, C., Zuccotti, V. G., Conte, A., Rizzi, M., Mazzoni, P. L., Ibba, P., Ferrarris, G., Benaglia, G., Stegagno, M., Masi, M., Dallacasa, P., Duse, Marzia, Rossi, G., Sciotto, A., Barbanera, M., De Mattia, D., Zaniboni, M., Bezzi, T., Campelli, A., Ciccimarra, F., Bassanetti, F., Consolini, R., Mazza, A., Tarallo, L., Altobelli, R., Castaldo, A., and Fundarò, C.
Subjects: medicine.medical_specialty, Multivariate analysis, business.industry, Immunology, Gestational age, Odds ratio, Logistic regression, medicine.disease, Confidence interval, Surgery, Infectious Diseases, Acquired immunodeficiency syndrome (AIDS), Immunology and Allergy, Medicine, Risk factor, business, Breast feeding, Demography
Abstract: Objectives To estimate the risk of HIV-1 transmission through breast-milk in children born to infected mothers, and to determine the relationship between duration of breast-feeding and risk. Design and methods The study population included 168 breast-fed and 793 bottle-fed children born to seropositive mothers. All subjects were enrolled and followed-up in the Italian Register for HIV Infection in Children; HIV sero-status was defined in all children. Multivariate analysis was performed using a logistic regression model. Independent variables included biological factors (duration of breast-feeding, gestational age, clinical condition of mother at delivery, mode of delivery, birth-weight and sex). Year of birth and age when HIV infection was diagnosed were also considered in the analysis attempting to control for possible selection biases. Results Breast-feeding increased the risk of HIV-1 transmission. The estimated adjusted odds ratio for 1 day of breast- versus bottle-feeding was 1.19 (95% confidence interval, 1.10-1.28). The infection odds ratio of breast- versus bottle-feeding increased with the natural logarithm of the duration of practice. Conclusions These results are the first to provide an appraisal of the additional risk of HIV-1 transmission associated with a seropositive mother breast-feeding her child. Biological significance of this route of transmission was supported by demonstration of a relationship between duration of breast-feeding and risk of HIV-1 transmission.
Published: 1992
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20. Is the interruption of antiretroviral treatment during pregnancy an additional major risk factor for mother-to-child transmission of HIV type 1?

Author: Galli, L, Puliti, D, Chiappini, E, Gabiano, C, Ferraris, G, Mignone, F, Viganò, A, Giaquinto, C, Genovese, O, Anzidei, G, Badolato, R, Buffolano, W, Maccabruni, A, Salvini, F, Cellini, M, Ruggeri, M, Manzionna, M, Bernardi, S, Tovo, P, de Martino, M, De Benedictis, F, Osimani, P, La Rovere, D, Quercia, M, Baldi, F, Ciccia, M, Faldella, A, Masi, M, Plebani, A, Spinelli, E, Dedoni, M, Gariel, D, Chiarello, P, Magnolia, Mg, Sticca, M, Vivalda, L, Bezzi, Teresa Maria, Fiumana, Elisa, Bianchi, L, Battiglia, N, Gervaso, P, Bondi, E, Cosso, D, Gotta, C, Ginocchio, L, Rosso, R, Viscoli, C, Amoretti, C, Esposito, S, Farina, F, Giacomet, V, Lipreri, R, Salvatici, E, Stucchi, S, Palazzi, G, Paolucci, P, De Luca, G, Giannattasio, A, Tancredi, F, Tarallo, L, Rampon, O, Dalle Nogare, E, Romano, A, Saitta, M, Mariani, B, Biver, P, Consolini, R, Palla, G, De Fanti, A, Dodi, I, Verna, M, Bove, G, Casadei, Am, Castelli Gattinara, G, Catania, S, Martino, Am, Sirufo, Mm, Ganau, A, Cristiano, L, Scolfaro, C, Versace, A, Portelli, V, Gentilini, L, Mazza, A, Bernardon, M, Bua, J, Rabusin, M, Pellegatta, A, Fortunati, P., Galli, L, Puliti, D, Chiappini, E, Gabiano, C, Ferraris, G, Mignone, F, Viganò, A, Giaquinto, C, Genovese, O, Anzidei, G, Badolato, R, Buffolano, Wilma, Maccabruni, A, Salvini, F, Cellini, M, Ruggeri, M, Manzionna, M, Bernardi, S, Tovo, P, de Martino, M, and Italian Register for HIV Infection in, C. h. i. l. d. r. e. n.
Subjects: Microbiology (medical), antiretroviral treatment, medicine.medical_specialty, Anti-HIV Agents, Pregnancy Trimester, Third, HIV Infections, transmission mother-to-child, HIV infection, Cohort Studies, HIV, Italian Register for HIV Infection in Children, therapeutic use, Cohort Studies, Delivery, Obstetric, Female, HIV Infections, drug therapy/transmission, HIV-1, isolation /&/ purification, Humans, Infant, Newborn, Infectious Disease Transmission, Vertical, Pregnancy, Pregnancy Complications, Infectious, drug therapy, Pregnancy Trimester, First, Pregnancy Trimester, Third, Prospective Studies, Risk Factors, Viral Load, Withholding Treatment, Pregnancy, Risk Factors, medicine, Elective Cesarean Delivery, Humans, Prospective Studies, Risk factor, Pregnancy Complications, Infectious, Maternal Transmission, Obstetrics, business.industry, Infant, Newborn, Viral Load, medicine.disease, Delivery, Obstetric, Confidence interval, Infectious Disease Transmission, Vertical, Surgery, Pregnancy Trimester, First, Infectious Diseases, Withholding Treatment, Cohort, HIV-1, Gestation, Female, business, Viral load
Abstract: There is currently an experts' agreement discouraging interruption of antiretroviral treatment (ART) during the first trimester of pregnancy in women infected with human immunodeficiency virus type 1 (HIV-1). However, this recommendation is poorly supported by data. We evaluated the effects of discontinuing ART during pregnancy on the rate of mother-to-child transmission.Logistic regression models were performed in a prospective cohort of 937 children who were perinatally exposed to HIV-1 to estimate adjusted odds ratios for confounding factors on mother-to-child transmission, including maternal interruption of ART.Among 937 pregnant women infected with HIV-1, ART was interrupted in 81 (8.6%) in the first trimester and in 11 (1.2%) in the third trimester. In the first trimester, the median time at suspension of ART was 6 weeks (interquartile range [IQR], 5-6 weeks) and the time without treatment was 8 weeks (IQR, 7-11 weeks). In the third trimester, the median time at suspension of ART was 32 weeks (IQR, 23-36 weeks) and the time without treatment was 6 weeks (IQR, 2-9 weeks). The plasma viral load was similar in women who had treatment interrupted in the first trimester and in those who did not have treatment interrupted. Overall, the rate of mother-to-child transmission in the whole cohort was 1.3% (95% confidence interval [CI], 0.7%-2.3%), whereas it was 4.9% (95% CI, 1.9%-13.2%) when ART was interrupted in the first trimester and 18.2% (95% CI, 4.5%-72.7%) when ART was interrupted in the third trimester. In the multiple logistic regression models, only interruption of ART during either the first or the third trimester, maternal mono- or double therapy, delivery by a mode other than elective cesarean delivery, and a viral load at delivery4.78 log(10) copies/mL were independently associated with an increased rate of mother-to-child transmission.Discontinuing ART during pregnancy increases the rate of mother-to-child transmission of HIV-1, either when ART is stopped in the first trimester and subsequently restarted or when it is interrupted in the third trimester. This finding supports recommendations to continue ART in pregnant women who are already receiving treatment for their health.
Published: 2009

21. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency

Author: Quinti, I, Soresina, A, Spadaro, G, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, Pesce, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, De Mattia, D, Martire, B, Cossu, F, Schirillo, G, Castagnola, E, Pietrogrande, M, Delle Piane, R, Putti, C, Trizzino, A, Amato, G, Bertolini, P, Zecca, M, Consolini, R, Moschese, V, Rossi, P, Cancrini, C, Cazzola, G, Quinti, I, Soresina, A, Spadaro, Giuseppe, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, MARIA PESCE, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, ITALIAN PRIMARY IMMUNODEFICIENCY, Network, SORESINA A., SPADARO G, Pignata, Claudio, and Plebani, A.
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, clinical features, Time Factors, Adolescent, common variable immunodeficiency, Immunology, Immunoglobulins, intravenous immunoglobulins, chronic lung disease, Autoimmune Diseases, Cohort Studies, Age Distribution, Neoplasms, medicine, Immunology and Allergy, Humans, pneumonia, Sinusitis, Prospective cohort study, Child, Preschool, mortality, Aged, Settore MED/38 - Pediatria Generale e Specialistica, Respiratory tract infections, business.industry, Common variable immunodeficiency, Chronic sinusitis, Middle Aged, medicine.disease, Surgery, Survival Rate, Pneumonia, Treatment Outcome, Child, Preschool, Common Variable Immunodeficiency, Female, Follow-Up Studies, Immunotherapy, Cohort, business, Cohort study
Abstract: Common Variable Immunodeficiency belongs to the group of rare diseases encompassing antibody deficiency syndromes of highly variable clinical presentation and outcome. The multicenter prospective study on a cohort of 224 patients with Common Variable Immunodeficiency provides an updated view of the spectrum of illnesses which occurred at the clinical onset and over a long period of follow-up (mean time: 11 years) and information on the effects of long-term immunoglobulin treatment. The mean age at the time of diagnosis was 26.6 years. Seventy-five patients were younger than 14 years of age. The mean age at the onset of symptoms was 16.9 years. This implicates with a mean diagnostic delay of 8.9 years. Respiratory tract infections were the most prominent clinical problem observed at diagnosis and during the follow-up. Intravenous immunoglobulin administration induced a significant reduction in the incidence of acute infections, mainly acute pneumonia and acute otitis. However, a progressive increase in the prevalence of patients with chronic diseases, mainly sinusitis and lung disease, was observed in all age groups, including the pediatric population. The morbidity of Common Variable Immunodeficiency due to all associated clinical conditions increased over time despite an adequate replacement with intravenous immunoglobulins. Our data stressed the need to develop international guidelines for the prevention and therapy of chronic lung disease, chronic sinusitis, chronic diarrhoea, and chronic granulomatosis in patients with humoral immunodeficiencies.
Published: 2007

22. Cancer rates after year 2000 significantly decrease in children with perinatal HIV infection: A study by the Italian Register for HIV Infection in Children

Author: Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Giaquinto, C, Rampon, O, Gattinara, Gc, De Marco, G, Osimani, P, Manzionna, M, Miniaci, A, Pintor, C, Rosso, R, Esposito, S, Viganò, A, Dodi, I, Maccabruni, A, Fundarò, C, de Martino, M, Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini, Elena, Galli, Luisa, Tovo, Pier-Angelo, Gabiano, Clara, Lisi, Catiuscia, Giaquinto, Carlo, Rampon, Osvalda, Gattinara, Guido Castelli, De Marco, Giulio, Osimani, Patrizia, Manzionna, Mariano, Miniaci, Angela, Pintor, Carlo, Rosso, Raffaella, Esposito, Susanna, Viganò, Alessandra, Dodi, Icilio, Maccabruni, Anna, Fundarò, Carlo, De Martino, Maurizio, Italian Register for HIV Infection in, Children, and Lanari, M.
Subjects: Registrie, Pediatrics, Cancer Research, Time Factors, HIV Infections, Antiretroviral Therapy, Highly Active, Neoplasms, HIV Infection, Registries, Sida, Child, biology, Incidence (epidemiology), Medicine (all), Incidence, Child, Preschool, Disease Progression, Humans, Infant, Infant, Newborn, Italy, Treatment Outcome, Oncology, symbols, Population study, Viral disease, Human, medicine.medical_specialty, cancer rates, HIV infection, children, Time Factor, Antiretroviral Therapy, symbols.namesake, Acquired immunodeficiency syndrome (AIDS), medicine, cancer, Highly Active, Poisson regression, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, Perinatal HIV infection, business.industry, Cancer, Newborn, medicine.disease, biology.organism_classification, Italian Register for HIV infection in children, El Niño, Neoplasm, business
Abstract: Purpose To evaluate the impact of highly active antiretroviral therapy (HAART) on cancer incidence in HIV-infected children throughout a 20-year period. Patients and Methods An observational population study was conducted on 1,190 perinatally HIV-infected children enrolled onto the Italian Register for HIV Infection in Children from 1985 to 2004 and never lost to follow-up (total observation time, 10,037.66 years). Cancer rates were calculated in the pre-HAART (1985 to 1995), early HAART (1996 to 1999), and late HAART (2000 to 2004) periods and compared using Poisson regression adjusted for age. The proportion of HAART-treated children increased from 4.1% in 1996 to 60.4% in 1999 and to 81.5% in 2004. In the same time frame, the proportion of children receiving HAART for at least 2 years increased from 3.1% to 77.0%. Results Overall, 35 cancers occurred. Cancer rates were 4.49 (95% CI, 2.37 to 6.64), 4.09 (95% CI, 1.68 to 6.50), and 0.76 (95% CI, 0.00 to 1.80) per 1,000 children per year in 1985 to 1995, 1996 to 1999, and 2000 to 2004, respectively. Notably, there was no significant difference comparing the periods from 1985 to 1995 and 1996 to 1999 (P = .081). By contrast, cancer rates were significantly lower in the period from 2000 to 2004 than in 1996 to 1999 (P < .0001). Results were confirmed by separately analyzing data from children observed from birth (P = .418 for 1985 to 1995 v 1996 to 1999; P = .001 for 1996 to 1999 v 2000 to 2004). Conclusion Dramatically reduced cancer rates were observed only in the late HAART period in parallel to the increasing proportion of children receiving HAART therapy.
Published: 2007

23. Virologic, immunologic, and clinical benefits from early combined antiretroviral therapy in infants with perinatal HIV-1 infection

Author: Chiappini, E., Galli, L., Atovo, P. i. e. r., Gabiano, C., Castelli Gattinara, G., Guarino, A., Baddato, R., Giaquinto, C., Lisi, C., de Martino, M., Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Gattinara, Gc, Guarino, Alfredo, Baddato, R, Giaquinto, C, Lisi, C, and DE MARTINO, M.
Subjects: medicine.medical_specialty, Pediatrics, Anti-HIV Agents, medicine.medical_treatment, Immunology, combined antiretroviral therapy, CD4-CD8 Ratio, HIV Infections, HIV-1 infection, Asymptomatic, Drug Administration Schedule, Acquired immunodeficiency syndrome (AIDS), Immunopathology, Antiretroviral Therapy, Highly Active, Medicine, Immunology and Allergy, Humans, Sida, ART, infants, Chemotherapy, biology, business.industry, Age Factors, Infant, Viral Load, biology.organism_classification, medicine.disease, Infectious Disease Transmission, Vertical, Surgery, CD4 Lymphocyte Count, Infectious Diseases, Treatment Outcome, Child, Preschool, Lentivirus, Disease Progression, HIV-1, Viral disease, medicine.symptom, business, Epidemiologic Methods, Viral load
Abstract: Objective: To investigate the impact of early versus deferred combined antiretroviral treatment (ART) in asymptomatic or moderately symptomatic [Centers for Disease Control and Prevention (CDC) category N, A or B] infants with perinatal HIV-1 infection. Methods: A multi-centre nationwide case-control study was conducted. Data from 30 infants treated with combined ART with three or more drugs before 6 months of age were compared with data from 103 infants starting ART with three or more drugs after 6 months of age. The median follow-up time was 4.1 years (range, 1.0-6.5 years). Results: No difference was evident in the first available viral load and CD4 T-lymphocyte percentage between the two groups of children. Early-treated infants showed significantly lower viral loads than infants receiving deferred treatment at all the follow-up periods. A higher proportion of early-treated infants than infants receiving deferred treatment (73.3% versus 30.1%; P < 0.0001) reached an undetectable viral load. Higher CD4 T-lymphocyte percentages were found in early-treated infants at 13-24 (P < 0.0001), 25-36 (P < 0.0001), and 37-48 (P = 0.003) months of age. No early-treated infant versus 20 of 103 (19.4%) infants receiving deferred ART (P=0.02) showed a CD4 T-lymphocyte percentage of less than 15% at one time point during follow-up. No CDC category A, B or C clinical event occurred in early-treated infants over the follow-up period while 44 of 103 (42.7%) infants receiving deferred treatment presented a decline in the CDC category. Kaplan-Meier analyses revealed significant differences in CDC category A (P = 0.0002), B (P = 0.0003), and C (P = 0.0018) event-free survivals. Conclusion: The data suggest virologic, immunologic, and clinical benefits from early administration of ART.
Published: 2006

24. Early triple therapy vs mono or dual therapy for children with perinatal HIV infection

Author: Chiappini, E, Galli, L, Gabiano, C, Tovo, Pa, de Martino, M, Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini E., Galli L., Gabiano C., Tovo P A., De Martino M., for the Italian Register for HIV Infection in Children: [.., Osimani P., Specchia F., Molesini M., and ]
Subjects: Perinatal HIV infection, Pediatrics, medicine.medical_specialty, HIV INFECTIONS, business.industry, Therapy, General Medicine, Virology, Perinatal hiv, medicine, INFANT, Dual therapy, business, MATERNAL-FETAL RELATIONS, DISEASE TRANSMISSION, ANTIHIV AGENTS
Abstract: The time at which antiretroviral therapy (ART) should be initiated in children with perinatal human immunodeficiencyvirus (HIV) infection remains controversial. In a cohort study, Berk et al1 reported clinical benefit from mono/dual ART started before 60 days of life in 10 children compared with treatment administered at 61 to 120 days of life in 16 children. The 23 children who received early triple ART were not investigated because none of them progressed to category C diagnosis by 3 years of age. We performed a similar analysis in a cohort study of a larger data set of children with a longer follow-up to evaluate the outcomes of early and very early triple ART.
Published: 2006

25. Persistently high IgA serum levels are a marker of immunological or virological failure of combined antiretroviral therapy in children with perinatal HIV-1 infection

Author: Chiappini, E., Galli, L., Tovo, P. A., Gabiano, C., de Martino, M., Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini E., Galli L., Tovo PA., Gabiano C., de Martino M., Osimani P, Masi M., Specchia F., Molesini M., and The Italian Register for HIV Infection in Children
Subjects: Adolescent, Anti-HIV Agents, Immunology, HIV Infections, HIV-1 infection, Perinatal hiv, Antiretroviral Therapy, Highly Active, Clinical Studies, Immunology and Allergy, Medicine, Humans, Treatment Failure, Child, viremia, business.industry, combinedantiretroviral therapy, hyper-IgA, Infant, Newborn, Normal population, Infant, Viral Load, Antiretroviral therapy, Virological failure, Infectious Disease Transmission, Vertical, CD4 Lymphocyte Count, Immunoglobulin A, Child, Preschool, HIV-1, Drug Monitoring, business, Viral load, Biomarkers, Follow-Up Studies
Abstract: Summary Non-expensive and low-complexity surrogate markers for monitoring the response to combined antiretroviral therapy (combined-ART) are needed in poor-resource settings where routine assessment of CD4+ T-lymphocyte count and viral load can not be afforded. We longitudinally evaluated Ig serum levels in 234 HIV-1 infected children receiving combined-ART with ≥ 3 drugs. Since Ig levels physiologically vary with age, differences at different age periods were evaluated as differences in z-scores calculated using the mean and standard deviation of the normal population for each age period. Data from 17 (7·3%) children with immunological failure and from 54 (23·1%) children with virological failure of combined-ART were compared with data from not-failed children. At baseline children with immunological failure showed higher IgM z-scores (P = 0·042) than children without. After 3–12 months of therapy immunologically failed children displayed higher viral loads (P < 0·0001) and IgA (P = 0·043) z-scores than not-failed children. Similarly, at the same follow-up time, children with virological failure showed lower CD4+ T-lymphocyte percentages (P = 0·005) and higher IgA z-scores (P < 0·0001) than not-failed children. No difference in IgG or IgM z-scores was evidenced between failed and not-failed children after 3–12 months of therapy. In conclusion, IgA serum level is a cheap and low-complexity marker of immunological or virological failure of combined-ART which might be adopted in poor-resource settings.
Published: 2005

26. A Prognostic Model for Estimating the Time to Virologic Failure in HIV-1 Infected Patients Undergoing a New Combination Antiretroviral Therapy Regimen

Author: PProsperi MC, Di Giambenedetto S, Fanti I, Meini G, Bruzzone B, Callegaro A, Penco G, Bagnarelli P, Micheli V, Paolini E, Di Biagio A, Ghisetti V, Di Pietro M, Zazzi M, De Luca A, Giacometti A, Butini L, del Gobbo R, Menzo S, Tacconi D, Corbelli G, Zanussi S, Monno L, Punzi G, Maggiolo F, CALZA, LEONARDO, RE, MARIA CARLA, Pristerà R, Turconi P, Mandas A, Tini S, Carnevale G, Amadio G, Sighinolfi L, Zuccati G, Morfini M, Manetti R, Galli L, Bartalesi F, Colao G, Tosti A, Setti M, Trezzi M, Orani A, Pardelli R, De Gennaro M, Chiodera A, Scalzini A, Palvarini L, Almi P, Todaro G, Gianotti N, Cicconi P, Rusconi S, Gismondo MR, Biondi ML, Capetti A, Meraviglia P, Boeri E, Pecorari M, Mussini C, Santirocchi M, Brustia D, Ravanini P, Dal Bello F, Romano N, Mancuso S, Calzetti C, Maserati R, Baldanti F, Francisci D, Parruti G, Polilli E, Sacchini D, Martinelli C, Consolini R, Vatteroni L, Vivarelli A, Nerli A, Lenzi L, Magnani G, Ortolani P, Andreoni M, Palamara G, Fimiani C, Palmisano L, Antinori A, Vullo V, Turriziani O, Perno CF, Montano M, Cenderello G, Gonnelli A, Romano L, Palumbo M, Bonora S, Delle Foglie P, Rossi C, Poletti F, Mondino V, Malena M, Lattuada E., PProsperi MC, Di Giambenedetto S, Fanti I, Meini G, Bruzzone B, Callegaro A, Penco G, Bagnarelli P, Micheli V, Paolini E, Di Biagio A, Ghisetti V, Di Pietro M, Zazzi M, De Luca A, Giacometti A, Butini L, del Gobbo R, Menzo S, Tacconi D, Corbelli G, Zanussi S, Monno L, Punzi G, Maggiolo F, Calza L, Re MC, Pristerà R, Turconi P, Mandas A, Tini S, Carnevale G, Amadio G, Sighinolfi L, Zuccati G, Morfini M, Manetti R, Galli L, Bartalesi F, Colao G, Tosti A, Setti M, Trezzi M, Orani A, Pardelli R, De Gennaro M, Chiodera A, Scalzini A, Palvarini L, Almi P, Todaro G, Gianotti N, Cicconi P, Rusconi S, Gismondo MR, Biondi ML, Capetti A, Meraviglia P, Boeri E, Pecorari M, Mussini C, Santirocchi M, Brustia D, Ravanini P, Dal Bello F, Romano N, Mancuso S, Calzetti C, Maserati R, Baldanti F, Francisci D, Parruti G, Polilli E, Sacchini D, Martinelli C, Consolini R, Vatteroni L, Vivarelli A, Nerli A, Lenzi L, Magnani G, Ortolani P, Andreoni M, Palamara G, Fimiani C, Palmisano L, Antinori A, Vullo V, Turriziani O, Perno CF, Montano M, Cenderello G, Gonnelli A, Romano L, Palumbo M, Bonora S, Delle Foglie P, Rossi C, Poletti F, Mondino V, Malena M, Lattuada E., Prosperi, M, Di Giambenedetto, S, Fanti, I, Meini, G, Bruzzone, B, Callegaro, A, Penco, G, Bagnarelli, P, Micheli, V, Paolini, E, Di Biagio, A, Ghisetti, V, Di Pietro, M, Zazzi, M, De Luca, A, and Mancuso, S
Subjects: Oncology, Male, Adult, Anti-HIV Agents, Cohort Studies, Drug Therapy, Combination, Female, HIV Infections, HIV-1, Humans, Middle Aged, Proportional Hazards Models, Treatment Failure, Viral Load, 0302 clinical medicine, ANTIRETROVIRAL THERAPY, Medicine, HIV Infection, 030212 general & internal medicine, 0303 health sciences, Health Policy, 3. Good health, Computer Science Applications, Censoring (clinical trials), Cohort, Combination, lcsh:R858-859.7, Viral load, Human, Research Article, Cart, medicine.medical_specialty, antiretroviral therapy, Health Informatics, Settore MED/17 - MALATTIE INFETTIVE, lcsh:Computer applications to medicine. Medical informatics, 03 medical and health sciences, Drug Therapy, Internal medicine, Survival analysis, 030306 microbiology, business.industry, Proportional hazards model, ANTIRETROVIRAL DRUGS, Anti-HIV Agent, HIV, GENOTYPES, Discontinuation, Regimen, Immunology, Proportional Hazards Model, Cohort Studie, business
Abstract: Background HIV-1 genotypic susceptibility scores (GSSs) were proven to be significant prognostic factors of fixed time-point virologic outcomes after combination antiretroviral therapy (cART) switch/initiation. However, their relative-hazard for the time to virologic failure has not been thoroughly investigated, and an expert system that is able to predict how long a new cART regimen will remain effective has never been designed. Methods We analyzed patients of the Italian ARCA cohort starting a new cART from 1999 onwards either after virologic failure or as treatment-naïve. The time to virologic failure was the endpoint, from the 90th day after treatment start, defined as the first HIV-1 RNA > 400 copies/ml, censoring at last available HIV-1 RNA before treatment discontinuation. We assessed the relative hazard/importance of GSSs according to distinct interpretation systems (Rega, ANRS and HIVdb) and other covariates by means of Cox regression and random survival forests (RSF). Prediction models were validated via the bootstrap and c-index measure. Results The dataset included 2337 regimens from 2182 patients, of which 733 were previously treatment-naïve. We observed 1067 virologic failures over 2820 persons-years. Multivariable analysis revealed that low GSSs of cART were independently associated with the hazard of a virologic failure, along with several other covariates. Evaluation of predictive performance yielded a modest ability of the Cox regression to predict the virologic endpoint (c-index≈0.70), while RSF showed a better performance (c-index≈0.73, p < 0.0001 vs. Cox regression). Variable importance according to RSF was concordant with the Cox hazards. Conclusions GSSs of cART and several other covariates were investigated using linear and non-linear survival analysis. RSF models are a promising approach for the development of a reliable system that predicts time to virologic failure better than Cox regression. Such models might represent a significant improvement over the current methods for monitoring and optimization of cART.
Published: 2011
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27. EPIDEMIOLOGY, CLINICAL FEATURES, AND PROGNOSTIC FACTORS OF PAEDIATRIC HIV INFECTION

Author: Tovo, P. A., de Martino, M., Caramia), G., Armenio, L., Schettini, F., De Mattia, D., Chiodo, F., Masi, M., Trombacco, M. G., Zaniboni, M. G., Duse, Marzia, Vertua, G., Quarta, G., Cao, A., Dessi', C., Di Gregorio, F., Bezzi, T., Cocchi, P., Calabri, G., Vierucci, A., Galli, L., Boeri, E., Jannuzzi, C., Terragna, A., De Maria, A., Sanpietro, F., Barbanera, M., Bardare, M., Plebani, A., Giovannini, M., Magni, L. A., Marchisio, P., Tornaghi, R., Rossi, A., Esposito, L., Guarino, A., Romano, G., Viggiano, D., Zacchello, F., Giaquinto, C., Chieco Bianchi, L., Benaglia, G., Bertolini, P., Arico', M., Caselli, D., Bassanetti, F., Consolini, R., Antonellini, A., Magnani, C., Calvani, M., Falconieri, P., Segni, G., Fundaro', C., Gabiano, C., Palomba, E., Perugini, L., and Negro, F.
Subjects: Hepatitis, Pediatrics, medicine.medical_specialty, Pregnancy, business.industry, Vaginal delivery, Mortality rate, Secondary infection, General Medicine, medicine.disease, Substance abuse, Epidemiology, medicine, Lymphoid interstitial pneumonia, business
Abstract: 486 children born to HIV-positive mothers, 57 children infected by blood products, and 1 child for whom the personal history was not available were studied. Perinatal infection had a more varied clinical picture and a worse outcome compared with infection acquired later in childhood. Severe secondary infections, neurological disorders, and hepatitis (but not lymphoid interstitial pneumonia) were linked to a high mortality rate in perinatally infected children, in whom an early onset of symptoms was also a bad prognostic factor. Perinatal HIV infection occurred in 32·6% of children born to seropositive mothers, with a higher transmission rate in children born by vaginal delivery and then breast-fed. Preterm delivery and low birthweight seemed to be related to drug abuse during pregnancy, not to intrauterine HIV infection. Girls had a higher rate of perinatal infection and, of those infected, had an increased mortality.
Published: 1988
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28. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

Author: Giovanna Russo, Valentino Conter, M Caniglia, A Garaventa, Giulia Stabile, MF Gicchino, Elisa Rossi, Annalisa Arlotta, S Ladogana, C Atzeni, Rita Consolini, Luciana Vinti, Daniela Onofrillo, Roberto Rondelli, Nicola Santoro, Loredana Lepore, F Locatelli, Elisa Coassin, Monica Ficara, Micol Romano, S Martino, Roberta Burnelli, I Fontanili, Francesca Soscia, Eleonora Prete, Francesca Santarelli, Romina Gallizzi, Patrizia Barone, MG Cefalo, E Cortis, Giovanni Filocamo, M Amatruda, Angela Miniaci, Anna Maria Caroleo, Massimo Eraldo Abate, Maria Cristina Maggio, M Mascarin, Simone Cesaro, E Fabbri, F De Benedetti, Angelo Ravelli, Alma Nunzia Olivieri, C Micalizzi, A Magnolato, B Bigucci, Francesca Ricci, Elisa Tirtei, Antonella Colombini, Luciana Breda, Tamara Belotti, Raffaela De Santis, Roberta Pericoli, Serena Pastore, Silvia Magni-Manzoni, Rosa Anna Podda, Chiara Mainardi, Donato Rigante, Federico Verzegnassi, C Messina, Adele Civino, Cristina Pizzato, M Marsili, Chiara Gorio, Rossella Mura, M Cattalini, Andrea Pession, M Cappella, A Di Cataldo, Francesco La Torre, Assunta Tornesello, Andrea Roncadori, F Porta, Maria Antonietta Pelagatti, F Fagioli, P Bertolini, Ilaria Capolsini, C Rizzari, M Cellini, Bianca Lattanzi, Alessandro De Fanti, S Davì, Carmela De Fusco, Giovanni Alighieri, Andrea Biondi, Civino, Adele, Alighieri, Giovanni, Prete, Eleonora, Maria Caroleo, Anna, SilviaMagni-Manzoni, Vinti, Luciana, Romano, Micol, Santoro, Nicola, Filocamo, Giovanni, Belotti, Tamara, Santarelli, Francesca, Gorio, Chiara, Ricci, Francesca, Colombini, Antonella, Pastore, Serena, Cesaro, Simone, Barone, Patrizia, Verzegnassi, Federico, Olivieri, Alma Nunzia, Ficara, Monica, Miniaci, Angela, Russo, Giovanna, Gallizzi, Romina, Pericoli, Roberta, Breda, Luciana, Mura, Rossella, Annapodda, Rosa, Onofrillo, Daniela, Lattanzi, Bianca, Elisatirtei, Cristina Maggio, Maria, De Santis, Raffaela, Ritaconsolini, Arlotta, Annalisa, La Torre, Francesco, Mainardi, Chiara, Antonietta Pelagatti, Maria, Coassin, Elisa, Capolsini, Ilaria, Burnelli, Roberta, Tornesello, Assunta, Soscia, Francesca, De Fanti, Alessandro, Donatorigante, Pizzato, Cristina, De Fusco, Carmela, Eraldo Abate, Massimo, Roncadori, Andrea, Rossi, Elisa, Stabile, Giulia, Biondi, Andrea, Lepore, Loredana, Conter, Valentino, Rondelli, Roberto, Pession, Andrea, Ravelli, Angelo, Association of Paediatric Haematology and Oncology†and the Italian Paediatric Rheumatology Study Group†, Italian, Amatruda, M, Atzeni, C, Pbertolini, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, Mg, Cellini, M, Cortis, E, Davì, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, MARIA FRANCESCA, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A.M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A.N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R.A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M.C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M.A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M.E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M.G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M.F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., Rizzari C., Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Bertolini, P, Cefalo, M, Davi, S, and Gicchino, M
Subjects: medicine.medical_specialty, business.industry, Immunology, Arthritis, Cancer, Odds ratio, Musculoskeletal manifestation, Juvenile idiopathic arthritis, medicine.disease, Histiocytosis, Rheumatology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Prednisone, Internal medicine, Joint pain, Arthropathy, Musculoskeletal manifestations, childhood cancer, juvenile idiopathic arthritis, medicine, childhood cancer, Immunology and Allergy, Differential diagnosis, medicine.symptom, business, medicine.drug
Abstract: Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. Findings Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0–27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2–4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89–408·12]), followed by weight loss (59·88 [6·34–565·53]), thrombocytopenia (12·67 [2·40–66·92]), monoarticular involvement (11·30 [4·09–31·19]), hip involvement (3·30 [1·13–9·61]), and male sex (2·40 [1·03–5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01–0·20]), joint swelling (0·03 [0·01–0·09]), and involvement of the small hand joints (0·02 [0–1·05]). Interpretation Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis. Funding Associazione Lorenzo Risolo.
Published: 2021

29. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author: A G Ugazio, Giovanna Russo, Maria Giovanna Danieli, Alberto Tommasini, Maria Cristina Pietrogrande, Raffaele Badolato, Andrea Pession, Carlo Agostini, Fabio Cardinale, Eleonora Gambineri, Baldassare Martire, Adele Civino, Manuela Baronio, Marco Gattorno, Marco Zecca, Viviana Moschese, Chiara Azzari, Alessio Benvenuto, Marzia Duse, Antonino Trizzino, Luisa Gazzurelli, Isabella Quinti, Vassilios Lougaris, Andrea Matucci, Giuseppe Spadaro, Claudio Lunardi, Angelo Vacca, Roberto Rondelli, Maria Caterina Putti, Luciana Chessa, Giovanna Fabio, Andrea Biondi, Fausto Cossu, Roberto Paganelli, Paolo Rossi, Rita Consolini, Alessandro Aiuti, Gian Luigi Marseglia, Luigi Carpino, Caterina Cancrini, Maddalena Marinoni, Silvana Martino, Claudio Pignata, Annarosa Soresina, Patrizia Bertolini, Alessandro Plebani, Lougaris, V., Pession, A., Baronio, M., Soresina, A., Rondelli, R., Gazzurelli, L., Benvenuto, A., Martino, S., Gattorno, M., Biondi, A., Zecca, M., Marinoni, M., Fabio, G., Aiuti, A., Marseglia, G., Putti, M. C., Agostini, C., Lunardi, C., Tommasini, A., Bertolini, P., Gambineri, E., Consolini, R., Matucci, A., Azzari, C., Danieli, M. G., Paganelli, R., Duse, M., Cancrini, C., Moschese, V., Chessa, L., Spadaro, G., Civino, A., Vacca, A., Cardinale, F., Martire, B., Carpino, L., Trizzino, A., Russo, G., Cossu, F., Badolato, R., Pietrogrande, M. C., Quinti, I., Rossi, P., Ugazio, A., Pignata, C., Plebani, A., Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, and Plebani, A
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Primary immunodeficiencies, Adolescent, Databases, Factual, Primary Immunodeficiency Diseases, Immunology, Age at diagnosis, History, 21st Century, Combined immunodeficiencies, Young Adult, Medical microbiology, patient registry, Epidemiology, medicine, Prevalence, Immunology and Allergy, Humans, Registries, Geography, Medical, Child, Adult patients, business.industry, Infant, Newborn, Infant, History, 20th Century, medicine.disease, Prognosis, Settore MED/38, Natural history, Italy, Child, Preschool, Population Surveillance, Cohort, Primary immunodeficiency, Original Article, Female, business
Abstract: Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.
Published: 2020

30. A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

Author: Rolando Cimaz, Giovanni Filocamo, Alma Nunzia Olivieri, Nicolino Ruperto, Romina Gallizzi, Adele Civino, Luca Cantarini, Martina Finetti, Rita Consolini, Angela Mauro, Marco Cattalini, Maria Cristina Maggio, Silvana Martino, Caterina Pidone, Giuseppe Trimarchi, Serena Pastore, Antonella Insalaco, Donato Rigante, Diana Sutera, Giovanna Fabio, Marco Gattorno, Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M., Civino, A., Martino, S., Olivieri, A., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., Galizzi, R, Pidone, C, Cantarini, L, Finetti, M, Cattalini, M, Filocamo, G, Insalaco, A, Rigante, D, Consolini, R, Maggio, Mc, Civino, A, Martino, S, Olivieri, An, Fabio, G, Pastore, S, Mauro, A, Sutera, D, Trimarchi, G, Ruperto, N, and Gattorno, M
Subjects: Male, lcsh:Diseases of the musculoskeletal system, Diagnostic criteria, Cross-sectional study, Constitutional symptoms, Behcet's disease, Pediatrics, Cohort Studies, Behçet’s disease, Biological Factors, 0302 clinical medicine, Epidemiology, Immunology and Allergy, Longitudinal Studies, Registries, 030212 general & internal medicine, Behçet’s disease, Children, Clinical features, Diagnostic criteria, Treatment, Pediatrics, Perinatology and Child Health, Rheumatology, Immunology and Allergy, Child, Children, Behçet's disease, Clinical features, Treatment, Adolescent, Behcet Syndrome, Cross-Sectional Studies, Female, Glucocorticoids, Humans, Immunosuppressive Agents, Italy, Pediatrics, Perinatology and Child Health, Rheumatology, education.field_of_study, lcsh:RJ1-570, Perinatology and Child Health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cohort, Research Article, Cohort study, medicine.medical_specialty, Population, BehÃ§et's disease, 03 medical and health sciences, Internal medicine, medicine, education, 030203 arthritis & rheumatology, business.industry, lcsh:Pediatrics, medicine.disease, Clinical feature, Etiology, lcsh:RC925-935, business
Abstract: Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. Data on demographic characteristics, clinical features and therapy were collected. We then compared our findings to those of international pediatric cohort studies and also retrospectively evaluated the ability to diagnose BD using ISG, ICBD and, for the first time, the new PEDBD criteria. Results The study included 110 patients (62 M, 48F). Average age at onset was 8.34±4.11 years. The frequencies of signs/symptoms were: recurrent oral aphtosis 94.5%, genital ulcers 33.6%, ocular 43.6%, gastrointestinal 42.7%, musculoskeletal 42.7%, neurological 30.9% and vascular involvement 10%. Thirty-two patients (29.1%) fulfilled ISG, 78 (70.9%) ICBD, 50 (45.5%) PEDBD criteria and 31 (28%) didn’t fulfill any of them. The most frequently used treatments were colchicine and corticosteroids followed by immunosuppressants. Four patients received biologic therapy (anti TNF-α and anti-IL-1) to treat severe organ involvement. Conclusions Recurrent oral aphtosis was the most frequent clinical manifestation, followed by ocular involvement. Gastrointestinal lesions were more frequent in Italy than in non-European countries as opposed to genital ulcers. Skin, ocular and vascular manifestations had a higher frequency in males and genital ulcers in females. Constitutional symptoms were present in 44.5% and recurrent fever in one third of our population.
Published: 2017

31. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Author: Ludovica Crescenzi, Emilia Cirillo, Alessio Benvenuto, Fabio Cardinale, Andrea Pession, Federica Pulvirenti, Simona Ferrari, Maria Caterina Putti, Giovanna Fabio, Rita Consolini, Fausto Cossu, Andrea Finocchi, Stefano Volpi, Angelo Vacca, Carolina Marasco, Marco Zecca, Claudio Pignata, Viviana Moschese, Gigliola Di Matteo, Lucia Leonardi, Raffaele Badolato, Marzia Duse, A G Ugazio, Manuela Baronio, Maddalena Marinoni, Chiara Azzari, Sara Signa, Silvana Martino, Maria Licciardello, Rosa Maria Dellepiane, Lucia Augusta Baselli, Luisa Gazzurelli, Giuseppe Spadaro, Claudio Lunardi, Cinzia Milito, Baldassare Martire, Alessandro Plebani, Francesca Conti, Caterina Cancrini, Maria Carrabba, Patrizia Bertolini, Francesco Cinetto, Davide Montin, Antonino Trizzino, Isabella Quinti, Vassilios Lougaris, Annarosa Soresina, Silvia Ricci, Silvia Giliani, Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F., Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C., and Plebani, A.
Subjects: Lung Diseases, Male, 0301 basic medicine, Pediatrics, X-linked agammaglobulinemia, Bruton tyrosine kinase, 0302 clinical medicine, Bruton’s tyrosin kinase, Agammaglobulinemia, Immunology and Allergy, Medicine, Child, biology, Incidence (epidemiology), Chronic sinusitis, Genetic Diseases, X-Linked, Middle Aged, Settore MED/38, Natural history, Italy, chronic lung disease, Genetic Diseases, Child, Preschool, Adolescent, Adult, Follow-Up Studies, Humans, Infant, Infant, Newborn, Infections, Sinusitis, Survival Analysis, Young Adult, Antibody, medicine.medical_specialty, Long term follow up, Immunology, 03 medical and health sciences, Preschool, business.industry, X-Linked, Newborn, medicine.disease, 030104 developmental biology, Lung disease, Primary immunodeficiency, biology.protein, business, 030215 immunology
Abstract: Background X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce. Objective Our aim was to describe the natural history of XLA. Methods A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base. Results Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease. Conclusions This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians.
Published: 2020

32. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network

Author: Maria Caterina Putti, Fernando Specchia, Andrea Pession, Alberto Tommasini, Paolo Rossi, Alessandro Aiuti, Andrea Finocchi, Emilia Cirillo, Federica Barzaghi, Caterina Cancrini, Alessandro Plebani, Davide Montin, Irene D'Alba, Baldassarre Martire, Silvana Martino, Raffaele Badolato, Rita Consolini, Gigliola Di Matteo, Franco Locatelli, Paolo Pierani, Federica Esposito, Chiara Azzari, Enrico Attardi, Claudio Pignata, Antonio Marzollo, Silvia Giliani, Samuele Naviglio, Maria Pia Cicalese, Giuliana Giardino, Giuseppe Quaremba, Vassilios Lougaris, Rosaria Prencipe, Alessia Scarselli, Silvia Ricci, Fiorentino Grasso, Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G., Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A., Pignata, C., Cirillo, Emilia, Cancrini, Caterina, Azzari, Chiara, Martino, Silvana, Martire, Baldassarre, Pession, Andrea, Tommasini, Alberto, Naviglio, Samuele, Finocchi, Andrea, Consolini, Rita, Pierani, Paolo, D'Alba, Irene, Putti, Maria Caterina, Marzollo, Antonio, Giardino, Giuliana, Prencipe, Rosaria, Esposito, Federica, Grasso, Fiorentino, Scarselli, Alessia, Di Matteo, Gigliola, Attardi, Enrico, Ricci, Silvia, Montin, Davide, Specchia, Fernando, Barzaghi, Federica, Cicalese, Maria Pia, Quaremba, Giuseppe, Lougaris, Vassilio, Giliani, Silvia, Locatelli, Franco, Rossi, Paolo, Aiuti, Alessandro, Badolato, Raffaele, Plebani, Alessandro, and Pignata, Claudio
Subjects: 0301 basic medicine, Male, Severe combined immunodeficiencie, Atypical SCID, Lymphopenia, Maternal engraftment, Next generation sequencing, Omenn syndrome, Primary immunodeficiencies, Severe combined immunodeficiencies, T-cell defects, Pediatrics, atypical SCID, Disease, lymphopenia, maternal engraftment, next generation sequencing, primary immunodeficiencies, severe combined immunodeficiencies, Cohort Studies, 0302 clinical medicine, Primary immunodeficiencie, Immunology and Allergy, Longitudinal Studies, Prospective Studies, Age of Onset, Child, Original Research, T-cell defect, Syndrome, Settore MED/38, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Italy, Child, Preschool, Cohort, Female, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Genotype, Immunology, 03 medical and health sciences, Combined immunodeficiencies, omenn syndrome, Intensive care, medicine, Humans, Retrospective Studies, Newborn screening, Severe combined immunodeficiency, business.industry, Infant, medicine.disease, 030104 developmental biology, Primary immunodeficiency, Severe Combined Immunodeficiency, business, lcsh:RC581-607, 030215 immunology
Abstract: Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. A positive relationship between the age at onset and the DD was found. SCID patients with later onset were identified only in the last decade of observation. Syndromic SCIDs represented 28% of the cohort. Eight percent of the subjects were diagnosed in Intensive Care Units. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. Pre-treatment mortality was higher in atypical and syndromic patients. Our study broadens the knowledge of clinical and laboratory manifestations and genotype/phenotype correlation in patients with SCID and may facilitate the diagnosis of both typical and atypical forms of the disease in countries where newborn screening programs have not yet been implemented.
Published: 2019

33. Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

Author: Isabella Ceccherini, Giuseppe Santamaria, Francesca Antonini, Anna Rubartelli, Rita Consolini, Ryuta Nishikomori, Federica Penco, Denise Lasigliè, Francesca Santarelli, Marco Di Duca, Antonella Insalaco, Genny Del Zotto, Marco Cattalini, Juan I. Aróstegui, Denise Ferrera, Mariasavina Severino, Alberto Martini, Giulia Amico, Anna Mensa-Vilaro, Marco Gattorno, Roberto Ravazzolo, Laura Obici, Kenji Nakagawa, Silvia Borghini, Roberta Caorsi, Alberto Tommasini, Romina Gallizzi, Lasiglie, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A., Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I., and Borghini, S.
Subjects: 0301 basic medicine, Male, Somatic cell, 0302 clinical medicine, Medicine, Immunology and Allergy, Pediatric rheumatic diseases inflammation, Child, Genetics, Sanger sequencing, Mosaicism, Brain, High-Throughput Nucleotide Sequencing, Amplicon, Neurologic manifestations, Phenotype, Magnetic Resonance Imaging, White Matter, Italy, Child, Preschool, symbols, Female, Genetic studies, Rheumatology, Immunology, Human, NLR Family, Deep sequencing, DNA sequencing, Neurologic manifestation, 03 medical and health sciences, symbols.namesake, NLR Family, Pyrin Domain-Containing 3 Protein, Humans, Preschool, Allele frequency, 030203 arthritis & rheumatology, business.industry, Infant, Newborn, Cryopyrin-associated periodic syndrome, Infant, Cryopyrin-Associated Periodic Syndromes, medicine.disease, Newborn, Pyrin Domain-Containing 3 Protein, Cryopyrin-Associated Periodic Syndrome, 030104 developmental biology, business, Genetic studie
Abstract: Objective.To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS).Methods.The study enrolled 14 patients with a clinical phenotype consistent with CAPS in whom Sanger sequencing of the NLRP3 gene yielded negative results. Patients’ DNA were subjected to amplicon-based NLRP3 deep sequencing.Results.Low-level somatic NLRP3 mosaicism has been detected in 4 patients, 3 affected with chronic infantile neurological cutaneous and articular syndrome and 1 with Muckle-Wells syndrome. Identified nucleotide substitutions encode for 4 different amino acid exchanges, with 2 of them being novel (p.Y563C and p.G564S). In vitro functional studies confirmed the deleterious behavior of the 4 somatic NLRP3 mutations. Among the different neurological manifestations detected, 1 patient displayed mild loss of white matter volume on brain magnetic resonance imaging.Conclusion.The allele frequency of somatic NLRP3 mutations occurs generally under 15%, considered the threshold of detectability using the Sanger method of DNA sequencing. Consequently, routine genetic diagnostic of CAPS should be currently performed by next-generation techniques ensuring high coverage to identify also low-level mosaicism, whose actual frequency is yet unknown and probably underestimated.
Published: 2017

34. Disease status, reasons for discontinuation and adverse events in 1038 Italian children with juvenile idiopathic arthritis treated with etanercept

Author: Marta Torcoletti, Achille Marino, Francesco La Torre, Giovanni Conti, Patrizia Barone, Donato Rigante, Francesco Zulian, Francesca Rovelli, Angelo Ravelli, Fabrizio De Benedetti, Gianfranco D'Angelo, Adele Civino, Alessandro De Fanti, Rebecca Nicolai, Valeria Gerloni, Irene Pontikaki, Silvia Magni-Manzoni, Francesca Bovis, Maria Cristina Maggio, Nicolino Ruperto, Serena Pastore, C Fede, Denise Pires Marafon, Alberto Martini, Chiara Sandrin, Fabrizia Corona, Romina Gallizzi, Sergio Davì, MG Alpigiani, Rita Consolini, Sara Verazza, Alessandro Consolaro, Giorgia Martini, Antonella Insalaco, Mauro Jorini, Alma Nunzia Olivieri, Rolando Cimaz, Rosanna Podda, Valentina Muratore, Luciana Breda, Marco Cattalini, Elisabetta Cortis, Verazza, Sara, Davì, Sergio, Consolaro, Alessandro, Bovis, Francesca, Insalaco, Antonella, Magni Manzoni, Silvia, Nicolai, Rebecca, Marafon, Denise Pire, De Benedetti, Fabrizio, Gerloni, Valeria, Pontikaki, Irene, Rovelli, Francesca, Cimaz, Rolando, Marino, Achille, Zulian, Francesco, Martini, Giorgia, Pastore, Serena, Sandrin, Chiara, Corona, Fabrizia, Torcoletti, Marta, Conti, Giovanni, Fede, Claudia, Barone, Patrizia, Cattalini, Marco, Cortis, Elisabetta, Breda, Luciana, Olivieri, Alma Nunzia, Civino, Adele, Podda, Rosanna, Rigante, Donato, La Torre, Francesco, D'Angelo, Gianfranco, Jorini, Mauro, Gallizzi, Romina, Maggio, Maria Cristina, Consolini, Rita, De Fanti, Alessandro, Muratore, Valentina, Alpigiani, Maria Giannina, Ruperto, Nicolino, Martini, Alberto, Ravelli, Angelo, Verazza, S., Davì, S., Consolaro, A., Bovis, F., Insalaco, A., Magni-Manzoni, S., Nicolai, R., Marafon, D., De Benedetti, F., Gerloni, V., Pontikaki, I., Rovelli, F., Cimaz, R., Marino, A., Zulian, F., Martini, G., Pastore, S., Sandrin, C., Corona, F., Torcoletti, M., Conti, G., Fede, C., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A., Civino, A., Podda, R., Rigante, D., La Torre, F., D'Angelo, G., Jorini, M., Gallizzi, R., Maggio, M., Consolini, R., De Fanti, A., Muratore, V., Alpigiani, M., Ruperto, N., Martini, A., and Ravelli, A.
Subjects: Male, Biologic therapie, Biologic therapies, Etanercept, Juvenile idiopathic arthritis, Pediatric rheumatology, TNF inhibitors, Adolescent, Antirheumatic Agents, Arthritis, Juvenile, Child, Child, Preschool, Cross-Sectional Studies, Drug Substitution, Female, Humans, Methotrexate, Patient Outcome Assessment, Retrospective Studies, Treatment Outcome, Pediatrics, Perinatology and Child Health, Rheumatology, Immunology and Allergy, Arthritis, Juvenile, Pediatrics, Inflammatory bowel disease, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Quality of life, Retrospective Studie, 030212 general & internal medicine, Antirheumatic Agent, Perinatology and Child Health, 3. Good health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Research Article, Human, medicine.drug, medicine.medical_specialty, 03 medical and health sciences, Juvenile idiopathic arthriti, Internal medicine, medicine, Pediatrics, Perinatology, and Child Health, Adverse effect, Preschool, Cross-Sectional Studie, 030203 arthritis & rheumatology, business.industry, Retrospective cohort study, medicine.disease, Discontinuation, Physical therapy, business, TNF inhibitor
Abstract: Background: Data from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN). Methods: In 2013, all centers of the Italian Pediatric Rheumatology Study Group were asked to make a census of patients given ETN after January 2000. Patients were classified in three groups: group 1 = patients still taking ETN; group 2 = patients discontinued from ETN for any reasons; group 3 = patients lost to follow-up while receiving ETN. All three groups received a retrospective assessment; patients in group 1 also underwent a cross-sectional assessment. Results: 1038 patients were enrolled by 23 centers: 422 (40.7%) were in group 1, 462 (44.5%) in group 2, and 154 (14.8%) in group 3. Median duration of ETN therapy was 2.5 years. At cross-sectional assessment, 41.8% to 48.6% of patients in group 1 met formal criteria for inactive disease, whereas 52.4% of patients in group 2 and 55.8% of patients in group 3 were judged in clinical remission by their caring physician at last visit. A relatively greater proportion of patients with systemic arthritis were discontinued or lost to follow-up. Parent evaluations at cross-sectional visit in group 1 showed that 52.4% of patients had normal physical function, very few had impairment in quality of life, 51.2% had no pain, 76% had no morning stiffness, and 82.7% of parents were satisfied with their child's illness outcome. Clinically significant adverse events were reported for 27.8% of patients and ETN was discontinued for side effects in 9.5%. The most common adverse events were new onset or recurrent uveitis (10.2%), infections (6.6%), injection site reactions (4.4%), and neuropsychiatric (3.1%), gastrointestinal (2.4%), and hematological disorders (2.1%). Ten patients developed an inflammatory bowel disease and 2 had a malignancy. One patient died of a fulminant streptococcal sepsis. Conclusions: Around half of the patients achieved complete disease quiescence under treatment with ETN. The medication was overall well tolerated, as only one quarter of patients experienced clinically significant adverse events and less than 10% had treatment discontinued for toxicity.
Published: 2016

35. Differentiating PFAPA Syndrome From Monogenic Periodic Fevers

Author: Roberta Caorsi, Joost Frenkel, Rita Consolini, Alberto Martini, Alberto Tommasini, Maria Pia Sormani, Francesco Zulian, Marco Gattorno, Maurizia Baldi, Gabriele Simonini, Elisabetta Cortis, MA Pelagatti, Marco Cattalini, Alessandro Plebani, G Calcagno, Silvia Federici, Isabella Ceccherini, Antonella Meini, Gattorno, M., Caorsi, R., Meini, A., Cattalini, M., Federici, S., Zulian, F., Cortis, E., Calcagno, G., Tommasini, A., Consolini, R., Simonini, G., Pelagatti, M. A., Baldi, M., Ceccherini, I., Plebani, A., Frenkel, J., Sormani, M. P., and Martini, A.
Subjects: Male, Abdominal pain, Familial Mediterranean fever, Receptors, Tumor Necrosis Factor, Cohort Studies, Diagnosis, Receptors, differential diagnosis, Child, Preschool, Cohort Studies, Diagnosi, Mevalonate kinase deficiency, medicine.diagnostic_test, PFAPA, Pharyngitis, Aphthous, Syndrome, MEFV, Child, Child, Familial Mediterranean Fever, Phosphotransferases (Alcohol Group Acceptor), Child, Preschool, Female, Stomatitis, Aphthous, medicine.symptom, Tumor Necrosis Factor, Stomatiti, medicine.medical_specialty, PFAPA syndrome, Aphthous, Syndrome, Fever of Unknown Origin, Diagnosis, Differential, Lymphadenitis, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Preschool, Genetic testing, Preschool, Cohort Studies, Diagnosis, Differential, Familial Mediterranean Fever, Female, Fever of Unknown Origin, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Lymphadenitis, Male, Mutation, Pharyngitis, Phosphotransferases (Alcohol Group Acceptor), Receptors, Tumor Necrosis Factor, Stomatitis, Stomatitis, business.industry, medicine.disease, Differential, Familial Mediterranean Fever, Female, Fever of Unknown Origin, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Lymphadenitis, Male, Mutation, Pharyngitis, Phosphotransferases (Alcohol Group Acceptor), Receptor, Gene Expression Regulation, Differential, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Periodic fever, aphthous stomatitis, pharyngitis and adenitis, Tumor Necrosis Factor, business
Abstract: OBJECTIVES: To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic fevers. METHODS: Complete clinical and genetic information was available for 393 children with periodic fever; 82 had positive genetic test results, 75 had incomplete genetic test results, and 236 had negative results for MVK, TNFRSF1A, and MEFV mutations. Current diagnostic criteria for PFAPA syndrome were applied. RESULTS: Of 393 children, 210 satisfied PFAPA syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n = 33; tumor necrosis factor receptor-associated periodic syndrome: n = 3; familial Mediterranean fever: n = 7), 37 displayed low-penetrance mutations or incomplete genotypes, and 130 demonstrated negative genetic testing results. Genetically positive patients had higher frequencies of abdominal pain and diarrhea (P < .001), vomiting (P = .006), and cutaneous rash and arthralgia (P = .01). Genetically negative patients had a higher frequency of exudative pharyngitis (P = .010). Genetically undetermined patients showed the same pattern of symptom frequency as genetically negative patients. The Gaslini diagnostic score was able to identify 91% of genetically positive patients correctly, with a global accuracy of 66%. CONCLUSION: The Gaslini diagnostic score represents a useful tool to identify patients meeting PFAPA syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers.
Published: 2009
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36. Unusual onset of a case of chronic recurrent multifocal osteomyelitis

Author: M. C Caparello, Sergio Crovella, Sonia Vitali, A Paolicchi, Rita Consolini, M Barrani, Eugenio Ciancia, Francesco Massei, Mariagrazia Stefania Scaglione, Barrani, M, Massei, F, Scaglione, MARIAGRAZIA STEFANIA, Paolicchi, A, Vitali, Sonia, Ciancia, E. M, Crovella, Sergio, Caparello, M. C, and Consolini, R.
Subjects: medicine.medical_specialty, Acute painful headache, Chronic recurrent multifocal osteomyelitis, CRMO, Rheumatology, Immunology and Allergy, Pediatrics, Perinatology and Child Health, Case Report, Pediatrics, Diagnosis, Differential, Biopsy, Dyschromia, Orbital Diseases, Medicine, Humans, Pediatrics, Perinatology, and Child Health, Child, medicine.diagnostic_test, business.industry, Osteomyelitis, Headache, Magnetic resonance imaging, Perinatology and Child Health, medicine.disease, Clavicle, Magnetic Resonance Imaging, Surgery, Skull, medicine.anatomical_structure, Chronic recurrent multifocal osteomyelitis, CRMO, Acute painful headache, Female, Radiology, Differential diagnosis, business, Tomography, X-Ray Computed
Abstract: Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition that commonly affects the clavicle and pelvis. Case presentation: We report here a case a 12 years old girl with CRMO arising with recurrent episodes of left supraorbital headache, followed by the appearance of a periorbital dyschromia. Magnetic resonance imaging (MRI) of the skull and orbits revealed an important subacute inflammatory process. Few months after, the child presented a painful swelling of the left clavicle; the histological examination of the related biopsy allowed to establish the diagnosis of CRMO. Conclusion: CRMO presenting as acute headache involving neurocranium is rare; to our knowledge this is the first recognized case in the world literature. This pathological condition is frequently misdiagnosed as infection or neoplasm and needs a deep investigation for the differential diagnosis. The physical, laboratoristic and instrumental diagnostic investigations of the patient and the treatment employed are described in detail.
Published: 2015

37. Estimating minimum adult HIV prevalence: A cross-sectional study to assess the characteristics of people living with HIV in Italy

Author: Margherita Busso, Tullio Prestileo, Ermenegildo Francavilla, Marco Anselmo, Francesco Montella, Evangelista Sagnelli, Teresa Santantonio, Massimo Galli, Marcello Saitta, Giuseppe Foti, Cecilia Guariglia, Franco Baldelli, Simona Di Gianbenedetto, Pierluigi Viale, Francesco Castelli, Antonella d'Arminio Monforte, Angelo Pan, Gabriella D’Ettore, Maria Dorrucci, Salvatore Bruno, Tiziana Quirino, Mariangela Raimondo, Alessandro Bartoloni, Vinicio Manfrin, Giovanni Mazzarello, Eugenio Mantia, Raffaele Pempinello, Antonio Traverso, Barbara Suligoi, Fabio Bulla, Pietro Mesina, Alessia Zoncada, Gianfranco Orofino, Oliviero Bosco, Gianmichele Moise, Angelo Salomone Megna, Roberto Ferretto, Mauro Valle, Manuela Colafigli, Claudio Paternoster, S. Artioli, Giovanni Riccio, Stefania Bernardi, Paolo Grossi, Milena Zoppi, Sebastiano Maiuzzo, Giorgio Perboni, Sauro Tini, Giuseppe Ferrea, Nicoletta Ladisa, Enzo M. Farinella, Daniela Francisci, Dino Sgarabotto, Roberto Monarca, Enzo Petrelli, A. Franco, Izzo Cm, Pietro Bellissima, Francesco Ortu, Laura Sighinolfi, Antonio Chirianni, Filippo Bartalesi, Giulio De Stefano, Claudia Colomba, Laura Camoni, Salvatore Galvagna, Benedetto Maurizio Celesia, Andrea Petrucci, Camillo Baretti, Pierluigi Brugnaro, Federica Poletti, Maurilio Chimenti, Camilla Ajassa, Mario Falciano, Rosaria La Sala, Sauro Luchi, V. Portelli, Annamaria Degli Antoni, Francesco Mazzotta, Giuliano Zuccati, Vincenzo Colangeli, Ercole Concia, Giordano Madeddu, Maria Cristina Salfa, Francesca Cattelan, Nicola Acone, Vincenza Regine, Olivia Bargiacchi, Maurizio de Martino, F. Paoletti, Giovanni Cassola, Giuliano Schettino, Carlo De Stefano, Enza Anzalone, D. Aquilini, Giacomo Magnani, Vanni Borghi, Roberta Gastaldi, Alessandra Govoni, Cristina Rossi, Rita Consolini, Gioacchino Angarano, Gloria Taliani, Tommaso Fontana, Sergio Lo Caputo, Davide Vitullo, Pierpaolo Congedo, Emanuela Vaccher, Paolo Viganò, Maria Stella Mura, Claudio Cancellieri, Enrico Girardi, Francesca Savalli, Cecilia Fico, Anna Maria Cattelan, Alessandro Chiodera, Renzo Scaggiante, P. Osimani, Caterina Bramato, Nicola Pietrosillo, Giovanna D'Alessio, Salvatore Bonfante, Vincenzo Vullo, Andrea Gori, Margherita Dalessandro, Domenico Lucchino, Massimo Deseraca, Paolo Tundo, Alfredo Pennica, M. Paoloni, Antonella Castagna, Nicola Serrao, Paolo Costa, Franco Marranconi, Massimo Villa, Pietro Filippini, Maurizio Setti, Eligio Pizzigallo, Marco Tinelli, Mauro Marchili, Domenico Santoro, Cesira Nencioni, Piera Dones, Vincenzo Renda, Alberto Giannetti, Domenico La Rovere, Nicoletta Dorigoni, Guido Palamara, Angelo Iodice, Clara Gabiano, Peter Mian, Luigi Guarnieri, Andrea De Luca, Nicola Tripodi, Giovanni Cristina, Giustino Parruti, Maria Montroni, Loredana Palvarini, Marco Rizzi, Benvenuto Grisorio, Corrado Catalani, Paolo Emilio Manconi, Jacopo Vecchiett, Tiziana Carli, Riccardo Iapoce, Massimo Andreoni, Adriano Lazzarin, Giorgetta Casalino Finocchio, D Sacchini, Mario Gobber, Spartaco Sani, Marco Campus, Rosario La Rosa, Maurizio Mazzeo, Stefano Bonora, Michele Trezzi, Paolo Bassi, Angela La Gala, Alessandro Grimaldi, Dante Di Giammartino, Guido Leo, Gaetano Filice, Antonio Salvo, Paolo Bonfanti, Chiara Pasqualini, Marcello Tavio, Luca Butini, N. Abrescia, Angela Linzalone, Gianpaolo Natalini Ramponi, Pierangelo Rovere, Piero Cortese, Dario Bartolozzi, F. Resta, Miriam Lichtner, Loredana Sarmati, Francesco Cesario, Renato F. Frongillo, Ivano Mezzaroma, Carlo Ferrari, Lorenzo Minoli, Paola Di Stefano, Lucina Titone, Rosa Boncoraglio, Mariana Farenga, Giuliano Rizzardini, Stefano Aviani Barbacci, Andrea Giacometti, Andrea Antinori, Antonio Caterini, Consuelo Geraci, Piergiorgio Chiriacò, Lucio Cosco, Claudio Viscoli, Alfredo Scalzini, Sandro Piga, Massimo Arlotti, Cecilia Occhino, Roberto Luzzati, Paola Sabbatini, Guglielmo Borgia, Umberto Tirelli, Antonio Davi, Letizia Cristiano, Cristina Mussini, Roberto Cauda, Patrizio Vittucci, B. Salassa, Marco Libanore, Maria Pina Sciotti, Isa Picerno, Matteo Bassetti, Benedetto Caroleo, Oswald Moling, Danilo Tacconi, Massimo Puoti, Camoni, Laura, Raimondo, Mariangela, Dorrucci, Maria, Regine V, Salfa MC, CARPHA Study, Group, Lazzarin, Adriano, Castagna, Antonella, Camoni, L, Raimondo, M, Dorrucci, M, Regine, V, Salfa, M, Suligoi, B, Di Giammartino, D, Parruti, G, Di Stefano, P, Paoloni, M, D'Alessandro, M, Grimaldi, A, Sciotti, M, Pizzigallo, E, Vecchiett, J, De Stefano, C, La Gala, A, De Stefano, G, Linzalone, A, Cesario, F, Cosco, L, Caroleo, B, Foti, G, Serrao, N, Lucchino, D, Chirianni, A, Abrescia, N, Pempinello, R, Izzo, C, Borgia, G, Filippini, P, Sagnelli, E, Iodice, A, Megna, A, D'Alessio, G, Acone, N, Mazzeo, M, Sacchini, D, Ferrari, C, Degli Antoni, A, Magnani, G, Mussini, C, Borghi, V, Viale, P, Colangeli, V, Sighinolfi, L, Libanore, M, Govoni, A, Cancellieri, C, Bassi, P, Arlotti, M, Luzzati, R, Bassetti, M, Tirelli, U, Vaccher, E, Moise, G, Palamara, G, Bernardi, S, Falciano, M, Vullo, V, D'Ettore, G, Renda, V, Guariglia, C, Taliani, G, Mezzaroma, I, Paoletti, F, Ajassa, C, Gastaldi, R, Andreoni, M, Sarmati, L, Montella, F, Antinori, A, Giannetti, A, Pietrosillo, N, Girardi, E, Pennica, A, Cauda, R, Colafigli, M, Di Gianbenedetto, S, Caterini, A, Monarca, R, Barbacci, S, Ramponi, G, Marchili, M, Anzalone, E, Lichtner, M, Ferrea, G, Cassola, G, Viscoli, C, Mazzarello, G, Setti, M, Artioli, S, Riccio, G, Finocchio, G, Anselmo, M, Rizzi, M, Scalzini, A, Castelli, F, Quirino, T, Santoro, D, Pan, A, Zoncada, A, Bonfanti, P, Viganò, P, Villa, M, Tinelli, M, Perboni, G, Palvarini, L, Costa, P, Puoti, M, Galli, M, Rizzardini, G, Monforte, A, Lazzarin, A, Castagna, A, Gori, A, Minoli, L, Filice, G, Grossi, P, Giacometti, A, Tavio, M, Montroni, M, Butini, L, Osimani, P, Petrelli, E, Chiodera, A, Vittucci, P, Sabbatini, P, Pasqualini, C, Valle, M, Zoppi, M, Mantia, E, Schettino, G, Deseraca, M, Vitullo, D, Bargiacchi, O, Orofino, G, Bramato, C, Busso, M, Salassa, B, Farenga, M, Bonora, S, Leo, G, Poletti, F, Gobber, M, Cristina, G, Gabiano, C, Mian, P, Moling, O, Paternoster, C, Dorigoni, N, Fontana, T, Angarano, G, Ladisa, N, La Rovere, D, Fico, C, Bulla, F, Santantonio, T, Grisorio, B, Chiriacò, P, Congedo, P, Tundo, P, Resta, F, Cristiano, L, Mura, M, Madeddu, G, Mesina, P, Piga, S, Campus, M, Manconi, P, Ortu, F, Salvo, A, Baretti, C, La Sala, R, Bellissima, P, Bonfante, S, Galvagna, S, Celesia, B, La Rosa, R, Maiuzzo, S, Guarnieri, L, Bruno, S, Picerno, I, Tripodi, N, Farinella, E, Occhino, C, Titone, L, Colomba, C, Prestileo, T, Saitta, M, Dones, P, Boncoraglio, R, Davi, A, Franco, A, Portelli, V, Savalli, F, Geraci, C, Chimenti, M, Luchi, S, Catalani, C, Trezzi, M, Aquilini, D, Sani, S, Nencioni, C, Carli, T, Mazzotta, F, Lo Caputo, S, Zuccati, G, Iapoce, R, Consolini, R, Bartolozzi, D, Bartoloni, A, Bartalesi, F, DE LUCA, A, De Martino, M, Tacconi, D, Tini, S, Baldelli, F, Francisci, D, Frongillo, R, Traverso, A, Francavilla, E, Ferretto, R, Marranconi, F, Manfrin, V, Cortese, P, Rossi, C, Cattelan, F, Petrucci, A, Brugnaro, P, Sgarabotto, D, Scaggiante, R, Cattelan, A, Bosco, O, Concia, E, Rovere, P, Regine, Vincenza, Salfa, Maria Cristina, Suligoi, Barbara, and Luzzati, Roberto
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Immunology, Infectious Diseases, Virology, Settore MED/17 - Malattie Infettive, Epidemiology, Cross-sectional study, Human immunodeficiency virus (HIV), MEDLINE, HIV Infections, medicine.disease_cause, Anti-Retroviral Agents, CD4 Lymphocyte Count, Cross-Sectional Studies, Female, Humans, Italy, Middle Aged, Prevalence, Retrospective Studies, medicine, HIV Infection, HIV, prevalence, Italy, Cross-Sectional Studie, business.industry, Transmission (medicine), HIV, Retrospective cohort study, Hiv prevalence, Northern italy, Anti-Retroviral Agent, business, Viral load, Human, Demography
Abstract: In 2012, we conducted a retrospective cross-sectional study to assess the number of people living with HIV linked to care and, among these, the number of people on antiretroviral therapy. The health authority in each of the 20 Italian Regions provided the list of Public Infectious Diseases Clinics providing antiretroviral therapy and monitoring people with HIV infection. We asked every Public Infectious Diseases Clinic to report the number of HIV-positive people diagnosed and linked to care and the number of those on antiretroviral therapy during 2012. In 2012, 94,146 people diagnosed with HIV and linked to care were reported. The majority were males (70.1%), Italians (84.4%), and aged between 25 and 49 years (63.4%); the probable route of transmission was heterosexual contact in 37.5% of cases, injecting drug use in 28.1%, and male-to-male contact in 27.9%. Among people in care, 20.1% had less than 350 CD4 cells/Î¼l, 87.6% received antiretroviral therapy, and among these, 62.4% had a CD4 cell count higher than 350 cells/Î¼l. The overall estimated prevalence of individuals diagnosed and linked to care in 2012 in Italy was 0.16 per 100 residents (all ages). Adding the estimated proportion of undiagnosed people, the estimated HIV prevalence would range between 0.19 and 0.26 per 100 residents. In Italy, the majority of people diagnosed and linked to care receive antiretroviral therapy. A higher prevalence of individuals diagnosed and linked to care was observed in Northern Italy and among males. More information for developing the HIV care continuum is necessary to improve the entire engagement in care, focusing on test-and-treat strategies to substantially reduce the proportion of people still undiagnosed or with a detectable viral load.
Published: 2015

38. Evaluation of the disease course of Italian children with juvenile idiopathic arthritis treated with etanercept: preliminary results in 772 patients

Author: Alessandro Consolaro, Romina Gallizzi, Donato Rigante, Francesco La Torre, Alma Nunzia Olivieri, Maria Cristina Maggio, Adele Civino, Angelo Ravelli, Antonella Insalaco, Alberto Martini, Luciana Breda, Sara Verazza, Loredana Lepore, Cristina Robbiano, Rolando Cimaz, Giovanni Conti, MG Alpigiani, Patrizia Barone, Gianfranco D'Angelo, Fabrizia Corona, Rita Consolini, Verazza S, Consolaro A, Robbiano C, Insalaco A, Cimaz R, Corona F, Conti G, Lepore L, Olivieri AN, Rigante D, La Torre F, Breda L, Civino A, D’Angelo G, Barone P, Consolini R, Gallizzi R, Maggio MC, Alpigiani MG, Martini A, and Ravelli1 A
Subjects: juvenile idiopathic arthritis, etanercept, medicine.medical_specialty, Pediatrics, business.industry, Alternative medicine, Arthritis, medicine.disease, Rheumatology, Etanercept, Disease course, Settore MED/38 - Pediatria Generale E Specialistica, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Immunology and Allergy, Juvenile, Pediatrics, Perinatology, and Child Health, business, medicine.drug
Abstract: The advent of biologic medications has considerably increased the potential for treatment benefit in juvenile idiopathic arthritis (JIA), with clinical remission being now achievable in a substantial proportion of patients.
Published: 2014

39. A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: Results from the Italian Primary Immunodeficiency Network

Author: Fabio Cardinale, M. Marconi, A Soresina, Marco Zecca, Viviana Moschese, Plinio Rossi, P Bertolini, M.A. Avanzini, Rita Carsetti, Isabella Quinti, Rita Consolini, S Di Cesare, Simona Graziani, Maria Cristina Pietrogrande, A Trizzino, Claudio Pignata, Gian Luigi Marseglia, Alessandro Plebani, M La Rocca, Roberto Rondelli, Loredana Chini, Grazia Bossi, Silvana Martino, Moschese, V., Graziani, S., Avanzini, M. A., Carsetti, R., Marconi, M., LA ROCCA, M., Chini, L., Pignata, Claudio, Soresina, A. R., Consolini, R., Bossi, G., Trizzino, A., Martino, S., Cardinale, F., Bertolini, P., Marseglia, G. L., Zecca, M., DI CESARE, S., Quinti, I., Rondelli, R., Pietrogrande, M. C., Rossi, P., and Plebani, A.
Subjects: Male, Aging, Pediatrics, medicine.medical_specialty, Allergy, Immunology, Immunoglobulins, primary immunodeficiency, transient hypogammaglobulinemia of infancy, Memory B cell subsets, in vitro immunoglobulin production, Hypogammaglobulinemia, Agammaglobulinemia, medicine, Humans, Immunology and Allergy, Prospective Studies, Transient hypogammaglobulinemia of infancy, Prospective cohort study, Memory B cell, Pharmacology, Autoimmune disease, Settore MED/38 - Pediatria Generale e Specialistica, B-Lymphocytes, biology, business.industry, Immunologic Deficiency Syndromes, Infant, medicine.disease, Immunoglobulin A, Treatment Outcome, Immunoglobulin M, Italy, Child, Preschool, Immunoglobulin G, Disease Progression, Primary immunodeficiency, biology.protein, Female, memory b cell subsets, Antibody, business, Immunologic Memory
Abstract: Transient hypogammaglobulinemia of infancy (THI) is a heterogeneous disorder characterized by reduced serum IgG levels in early infancy. A putative diagnosis is initially made after exclusion of other causes of hypogammaglobulinemia while a definitive diagnosis of THI can only be made a posteriori in patients with normalization of IgG levels. The aim of this study is to characterize clinical and immunological features of children with an initial diagnosis of THI in correlation to natural outcome, and to assess predictive laboratory parameters of clinical evolution for this disorder. We prospectively analysed clinical and immunological characteristics of 77 THI children at initial diagnosis and of 57 patients at follow-up. Memory B cell subsets and in vitro immunoglobulin production were evaluated. Seventy patients (91 percent) showed clinical symptoms. Patients suffered from infections (91 percent), allergies (47 percent) and autoimmune disease (4 percent). During follow-up 41/57 children (72 percent) normalized IgG values, mostly within 24 months of age (p less than 0.001), allowing the diagnosis of THI. The 16 children who did not normalize their IgG levels showed a higher frequency of severe infections and autoimmune disease (p less than 0.01). Moreover, they expressed a reduced frequency of IgM and switched memory B cells (p less than 0.01) and an inability to produce IgG in vitro (p less than 0.02). We conclude that most patients with an initial diagnosis of THI spontaneously recover within 24 months of age and have a benign clinical course, while a subgroup of children with undefined hypogammaglobulinemia share a clinical and immunological profile with other primary immunodeficiencies. Early recognition of children with hypogammaglobulinemia during infancy who are likely to suffer from permanent immunodeficiencies later in life would allow prompt and appropriate laboratory and clinical interventions.

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