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1. Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand

Author: Crichton, Siobhan, Belfrage, Eric, Collins, Intira Jeanne, Doerholt, Katja, Judd, Ali, Le Coeur, Sophie, Spoulou, Vana, Goodall, Ruth, Scherpbier, Henriette, Smit, Colette, Goetghebuer, Tessa, Gibb, Diana M., Noguera, Antoni, Luisa Navarro, Maria, Tomas Ramos, Jose, Galli, Luisa, Giaquinto, Carlo, Thorne, Claire, Santa Ansone, Marczynska, Magdalena, Okhonskaia, Liubov, de Tejada, Begona Martinez, Jourdain, Gonzague, Decker, Luc, Ene, Luminita, Hainaut, Marc, Van der Kelen, Evelyne, Delforge, Marc, de Martino, Maurizio, Tovo, Pier Angelo, 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, Rampon, Osvalda, Dona, Daniele, Romano, Amelia, Dodi, Icilio, Maccabruni, Anna, Consolini, Rita, Bernardi, Stefania, Kuekou, Hyppolite Tchidjou, Genovese, Orazio, Olmeo, Paolina, Cristiano, Letizia, Mazza, Antonio, Gabiano, Clara, Garazzino, Silvia, Pellegatta, Antonio, Pajkrt, D., Scherpbier, H. J., Weijsenfeld, A. M., de Boer, C. G., 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. G., Boucher, C. A. B., Koopmans, M. P. G., van Kampen, J. J. A., Pas, S. D., Henriet, S. S., V, van de Flier, M., van Aerde, K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F. F., 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., Wolfs, T. F. W., Nauta, N., Schuurman, R., Verduyn-Lunel, F., Wensing, A. M. J., Reiss, P., Zaheri, S., Bezemer, D. O., van Sighem, A., I, Smit, C., Wit, F. W. M. N., Hillebregt, M., de Jong, A., Woudstra, T., Bergsma, D., Grivell, S., Meijering, R., Raethke, M., Rutkens, T., de Groot, L., van den Akker, M., Bakker, Y., Bezemer, M., El Berkaoui, A., Geerlinks, J., Koops, J., Kruijne, E., Lodewijk, C., Lucas, E., van der Meer, R., Munjishvili, L., Paling, E., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., van de Sande, L., Schoorl, M., Schnorr, P., Tuijn, E., Veenenberg, L., van der Vliet, S., Wisse, A., Witte, E. C., Tuk, B., Popielska, Jolanta, Pokorska-Spiewak, Maria, Oldakowska, Agnieszka, Zawadka, Konrad, Coupland, Urszula, Doroba, Malgorzata, Voronin, Evgeny, Miloenko, Milana, Labutina, Svetlana, Soler-Palacin, Pere, Antoinette Frick, Maria, Perez-Hoyos, Santiago, Mur, Antonio, Lopez, Nuria, Mendez, Maria, Mayol, Lluis, Vallmanya, Teresa, Calavia, Olga, Garcia, Lourdes, Coll, Maite, Pineda, Valenti, Rius, Neus, Rovira, Nuria, Duenas, Joaquin, Gamell, Anna, Fortuny, Claudia, Noguera-Julian, Antoni, Jose Mellado, Maria, Escosa, Luis, Garcia Hortelano, Milagros, Sainz, Talia, Isabel Gonzalez-Tome, Maria, Rojo, Pablo, Blazquez, Daniel, Prieto, Luis, Guillen, Sara, Saavedra, Jesus, Santos, Mar, Angeles Munoz, Ma, Ruiz, Beatriz, Fernandez Mc Phee, Carolina, Jimenez de Ory, Santiago, Alvarez, Susana, Angel Roa, Miguel, Beceiro, Jose, Martinez, Jorge, Badillo, Katie, Apilanez, Miren, Pocheville, Itziar, Garrote, Elisa, Colino, Elena, Gomez Sirvent, Jorge, Garzon, Monica, Roman, Vicente, Montesdeoca, Abian, Mateo, Mercedes, Jose Munoz, Maria, Angulo, Raquel, Neth, Olaf, Falcon, Lola, Terol, Pedro, Luis Santos, Juan, Moreno, David, Lendinez, Francisco, Grande, Ana, Jose Romero, Francisco, Perez, Carlos, Lillo, Miguel, Losada, Begona, Herranz, Mercedes, Bustillo, Matilde, Guerrero, Carmelo, Collado, Pilar, Antonio Couceiro, Jose, Perez, Amparo, Isabel Piqueras, Ana, Breton, Rafael, Segarra, Inmaculada, Gavilan, Cesar, Jareno, Enrique, Montesinos, Elena, Dapena, Marta, Alvarez, Cristina, Gloria Andres, Ana, Marugan, Victor, Ochoa, Carlos, Alfayate, Santiago, Isabel Menasalvas, Ana, de Miguel, Elisa, Naver, Lars, Soeria-Atmadja, Sandra, Hagas, Vendela, Aebi-Popp, K., Anagnostopoulos, A., Asner, S., Battegay, M., Baumann, M., Bernasconi, E., Boni, J., Braun, D. L., Bucher, H. C., Calmy, A., Cavassini, M., Ciuffi, A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C. A., Grawe, C., Gunthard, H. F., Haerry, D., Hasse, B., Hirsch, H. H., Hoffmann, M., Hosli, I, Huber, M., Kahlert, C. R., Kaiser, L., Keiser, O., Klimkait, T., Kottanattu, L., Kouyos, R. D., Kovari, H., Ledergerber, B., Martinetti, G., de Tejada, Martinez B., Marzolini, C., Metzner, K. J., Mueller, N., Nicca, D., Paioni, P., Pantaleo, G., Perreau, M., Polli, Ch, Rauch, A., Rudin, C., Scherrer, A. U., Schmid, P., Speck, R., Stockle, M., Tarr, P., Lecompte, Thanh M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Wyler, C. A., Yerly, S., Wannarit, Pornpun, Techakunakorn, Pornchai, Hansudewechakul, Rawiwan, Wanchaitanawong, Vanichaya, Theansavettrakul, Sookchai, Nanta, Sirisak, Ngampiyaskul, Chaiwat, Phanomcheong, Siriluk, Hongsiriwon, Suchat, Karnchanamayul, Warit, Kwanchaipanich, Ratchanee, Kanjanavanit, Suparat, Kamonpakorn, Nareerat, Nantarukchaikul, Maneeratn, Layangool, Prapaisri, Mekmullica, Jutarat, Lucksanapisitkul, Paiboon, Watanayothin, Sudarat, Lertpienthum, Narong, Warachit, Boonyarat, Hanpinitsak, Sansanee, Potchalongsin, Sathit, Thanasiri, Pimpraphai, Krikajornkitti, Sawitree, Attavinijtrakarn, Pornsawan, Srirojana, Sakulrat, Bunjongpak, Suthunya, Puangsombat, Achara, Na-Rajsima, Sathaporn, Ananpatharachai, Pornchai, Akarathum, Noppadon, Lawtongkum, Weerasak, An, Prapawan Kheunj, Suriyaboon, Thitiporn, Saipanya, Airada, Than-in-at, Kanchana, Jaisieng, Nirattiya, Suaysod, Rapeepan, Chailoet, Sanuphong, Naratee, Naritsara, Kawilapat, Suttipong, Lyall, Hermione, Bamford, Alasdair, Butler, Karim, Doherty, Conor, Foster, Caroline, Francis, Kate, Harrison, Ian, Kenny, Julia, Klein, Nigel, Letting, Gillian, McMaster, Paddy, Murau, Fungai, Nsangi, Edith, Peters, Helen, Prime, Katia, Riordan, Andrew, Shackley, Fiona, Shingadia, Delane, Storey, Sharon, Tudor-Williams, Gareth, Turkova, Anna, Welch, Steve, Collins, Intira Jeannie, Cook, Claire, Dobson, Donna, Fairbrother, Keith, Harper, Lynda, Le Prevost, Marthe, Van Looy, Nadine, Butler, K., Walsh, A., Thrasyvoulou, L., Welch, S., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Sloper, K., Fidler, K., Hague, R., Price, V, Clapson, M., Flynn, J., Abou-Rayyah, A. Cardoso M., Klein, N., Shingadia, D., 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, P. McMaster 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., Clarke, D. Rogahn L., Jones, L., Offerman, B., Greenberg, M., Benson, C., Riordan, A., Ibberson, L., Shackley, F., Faust, S. N., Hancock, J., Doerholt, K., Prime, K., Sharland, M., Storey, S., Lyall, H., Monrose, C., Seery, P., Tudor-Williams, G., Menson, E., Callaghan, A., Bridgwood, A., McMaster, P., Evans, J., Blake, E., Yannoulias, A., European Pregnancy Paediat HIV Coh, Microbes in Health and Disease (MHD), Fundación Investigación y Educación en Sida, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Épidémiologie clinique, santé mère-enfant et VIH en Asie du Sud-Est (IRD_PHPT), Harvard University [Cambridge]-Chiang Mai University (CMU), Pediatrics, and Virology
Subjects: 0301 basic medicine, Male, Pediatrics, puberty, [SDV]Life Sciences [q-bio], humanos, Human immunodeficiency virus (HIV), adolescente, LETTONIE, CHILDREN, HIV Infections, medicine.disease_cause, GRECE, desarrollo del niño, Cohort Studies, 0302 clinical medicine, Child Development, CHILD_DEVELOPMENT, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, ADOLESCENTS, Immunology and Allergy, Pooled data, 030212 general & internal medicine, SUEDE, Child, estudios de cohortes, ESPAGNE, 11 Medical and Health Sciences, Anthropometry, THAILANDE, Europe, growth, height, HIV, perinatal, Thailand, Adolescent, Anti-Retroviral Agents, Child, Preschool, Female, Humans, Infant, Puberty, virus diseases, Growth spurt, PAYS BAS, 3. Good health, 17 Psychology and Cognitive Sciences, AIDS, antirretrovirales, Infectious Diseases, POLOGNE, BELGIQUE, Life Sciences & Biomedicine, medicine.medical_specialty, Pediatric hiv, Epidemiology and Social, ROYAUME UNI, Immunology, MASS, European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) study group, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Virology, medicine, pubertad, Preschool, lactante, ROUMANIE, Science & Technology, business.industry, 06 Biological Sciences, VELOCITY, SUISSE, Regimen, 030104 developmental biology, VIRAL LOAD, antropometría, infecciones por VIH, BODY_HEIGHT, business, IRLANDE, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: The European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) study group., [Objective]: The aim of this study was to describe growth during puberty in young people with vertically acquired HIV. [Design]: Pooled data from 12 paediatric HIV cohorts in Europe and Thailand. [Methods]: One thousand and ninety-four children initiating a nonnucleoside reverse transcriptase inhibitor or boosted protease inhibitor based regimen aged 1–10 years were included. Super Imposition by Translation And Rotation (SITAR) models described growth from age 8 years using three parameters (average height, timing and shape of the growth spurt), dependent on age and height-for-age z-score (HAZ) (WHO references) at antiretroviral therapy (ART) initiation. Multivariate regression explored characteristics associated with these three parameters. [Results]: At ART initiation, median age and HAZ was 6.4 [interquartile range (IQR): 2.8, 9.0] years and −1.2 (IQR: −2.3 to −0.2), respectively. Median follow-up was 9.1 (IQR: 6.9, 11.4) years. In girls, older age and lower HAZ at ART initiation were independently associated with a growth spurt which occurred 0.41 (95% confidence interval 0.20–0.62) years later in children starting ART age 6 to 10 years compared with 1 to 2 years and 1.50 (1.21–1.78) years later in those starting with HAZ less than −3 compared with HAZ at least −1. Later growth spurts in girls resulted in continued height growth into later adolescence. In boys starting ART with HAZ less than −1, growth spurts were later in children starting ART in the oldest age group, but for HAZ at least −1, there was no association with age. Girls and boys who initiated ART with HAZ at least −1 maintained a similar height to the WHO reference mean. [Conclusion]: Stunting at ART initiation was associated with later growth spurts in girls. Children with HAZ at least −1 at ART initiation grew in height at the level expected in HIV negative children of a comparable age., This work has been partially funded by the Fundación para la Investigación y Prevención de SIDA en España (FIPSE) (FIPSE 3608229/09, FIPSE 240800/09, FIPSE 361910/10), Red Temática de Investigación en SIDA (RED RIS) supported by Instituto de Salud Carlos III (ISCIII) (RD12/0017/0035 and RD12/0017/0037), project as part of the Plan R+D+I and cofinanced by ISCIII- Subdirección General de Evaluación and Fondo Europeo de Desarrollo Regional (FEDER),Mutua Madrileña 2012/0077, Gilead Fellowship 2013/0071, FIS PI15/00694,CoRISpe (RED RIS RD06/0006/0035 y RD06/0006/0021).
Published: 2019

2. Declining Prevalence of HIV-1 Drug Resistance in Antiretroviral Treatment-exposed Individuals in Western Europe

Author: De Luca, A, Dunn, D, Zazzi, M, Camacho, R, Torti, C, Fanti, I, Kaiser, R, Sönnerborg, A, Codoñer, Fm, Van Laethem, K, Vandamme, Am, Bansi, L, Ghisetti, V, van de Vijver DA, Asboe, D, Prosperi, Mc, Di Giambenedetto, S, Collaborators: Giacometti A, SEHERE collaboration in C. h. a. i. n., Butini, L, del Gobbo, R, Menzo, S, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Maggiolo, F, Callegaro, A, Calza, L, Pristerà, 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, Colao, G, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, Penco, G, Trezzi, M, Orani, A, Pardelli, R, De Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Monforte, Ad, 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, Santirocchi, M, Brustia, D, Ravanini, P, Dal Bello, F, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Filice, G, Baldanti, F, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, Rita, De Luca, A, Dunn, D, Zazzi, M, Camacho, R, Torti, C, Fanti, I, Kaiser, R, Sönnerborg, A, Codoñer, F, Van Laethem, K, Vandamme, A, Bansi, L, Ghisetti, V, Van De Vijver, D, Asboe, D, Prosperi, M, Di Giambenedetto, S, Mancuso, S, and Virology
Subjects: Male, Multivariate analysis, Databases, Factual, Drug Resistance, HIV Infections, Drug resistance, 0302 clinical medicine, Retrospective Studie, Risk Factors, Epidemiology, Genotype, pol Gene Products, Human Immunodeficiency Viru, Odds Ratio, Prevalence, Immunology and Allergy, HIV Infection, 030212 general & internal medicine, pol Gene Products, Viral, Multivariate Analysi, media_common, 0303 health sciences, Drug Resistance Prevalence HIV-1, Middle Aged, Resistance mutation, 3. Good health, Reverse Transcriptase Inhibitor, Europe, Infectious Diseases, Reverse Transcriptase Inhibitors, epidemiology, Female, Multiple, Human Immunodeficiency Virus, Human, Drug, Adult, medicine.medical_specialty, Evolution, media_common.quotation_subject, Sexual Behavior, antiretroviral therapy, Infectious Disease, Biology, Settore MED/17 - MALATTIE INFETTIVE, Evolution, Molecular, 03 medical and health sciences, Databases, SDG 3 - Good Health and Well-being, Drug Resistance, Multiple, Viral, medicine, Humans, HIV Protease Inhibitor, Factual, Retrospective Studies, 030306 microbiology, Risk Factor, Molecular, Retrospective cohort study, Odds ratio, HIV Protease Inhibitors, CD4 Lymphocyte Count, drug resistance, genotyping, HIV-1, Multivariate Analysis, Mutation, pol Gene Products, Human Immunodeficiency Virus, Immunology, Demography
Abstract: HIV-1 drug resistance represents a major obstacle to infection and disease control. This retrospective study analyzes trends and determinants of resistance in antiretroviral treatment (ART)-exposed individuals across 7 countries in Europe. Of 20 323 cases, 80% carried at least one resistance mutation: these declined from 81% in 1997 to 71% in 2008. Predicted extensive 3-class resistance was rare (3.2% considering the cumulative genotype) and peaked at 4.5% in 2005, decreasing thereafter. The proportion of cases exhausting available drug options dropped from 32% in 2000 to 1% in 2008. Reduced risk of resistance over calendar years was confirmed by multivariable analysis. © 2013 The Author.
Published: 2013
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3. Outcomes in off-pump vs. on-pump coronary artery bypass grafting stratified by pre-operative risk profile: an assessment using propensity score

Author: Ferreira Gonzalez IJ, Ribera, A, Cascant, P, Permanyer Miralda, G, Consolini, Rita, and ARCA study grp
Subjects: Male, medicine.medical_specialty, medicine.medical_treatment, Coronary Disease, Revascularization, Risk Assessment, Cohort Studies, Coronary artery bypass surgery, Postoperative Complications, Risk Factors, Internal medicine, medicine, Humans, Prospective Studies, Myocardial infarction, Coronary Artery Bypass, Risk factor, Aged, business.industry, Extracorporeal circulation, EuroSCORE, Middle Aged, medicine.disease, Surgery, Hospitalization, Treatment Outcome, Propensity score matching, Cardiology, Regression Analysis, Female, Cardiology and Cardiovascular Medicine, business, Cohort study
Abstract: Aims To assess the benefit of off-pump coronary surgery stratified by the pre-operative risk profile. Methods and results Prospective and multicentric cohort study. All consecutive patients undergoing a first coronary bypass procedure between November 2001 and November 2003 were potentially eligible. Pre-operative EuroSCORE and in-hospital outcomes were prospectively collected using strictly standardized criteria. To ensure optimal adjustment, a propensity score was constructed using clinically relevant variables and incorporating individual centres. Of 1602 patients who underwent a first coronary bypass, EuroSCORE could be calculated in 1585: 787 were of moderate/high pre-operative risk profile (EuroSCORE>3), of which 347 underwent off-pump procedures, and 798 were of low pre-operative risk profile (EuroSCORE≤3), of which 349 underwent off-pump procedures. After risk adjusting for propensity score, off-pump patients had less major events (post-operative death, myocardial infarction, and need for reoperation). This benefit was higher in the low-risk stratum (OR ranged between 0.27 and 0.4; P =0.02−0.07) than in the high-risk stratum (OR between 0.4 and 0.7; P , not significant). Conclusion In real-life conditions, off-pump coronary surgery may be more effective than on-pump surgery. In contrast with previous reports, our results suggest that this benefit may be higher in patients with low pre-operative risk.
Published: 2006

4. Interpretation of Genotypic Resistance to Predict Darunavir/Ritonavir Failure in Antiretroviral Experienced Patients

Author: Sterrantino, G, Zaccarelli, M, Trotta, M, De Luca, A, Borghi, V, Meraviglia, P, Corsi, P, Bonora, S, Leoncini, F, Zazzi, M, for ARCA Database Study Group, and Consolini, Rita
Subjects: Adult, Male, medicine.medical_specialty, HIV Infections, Pharmacology, Settore MED/17 - MALATTIE INFETTIVE, Drug Resistance, Multiple, Viral, Risk Factors, Interquartile range, Antiretroviral Therapy, Highly Active, Internal medicine, Statistical significance, medicine, Humans, Pharmacology (medical), Treatment Failure, Darunavir, Sulfonamides, Ritonavir, business.industry, Hazard ratio, HIV Protease Inhibitors, Middle Aged, Confidence interval, Regimen, Infectious Diseases, Italy, Mutation, HIV-1, Female, business, Algorithms, Cohort study, medicine.drug
Abstract: From the Italian Antiretroviral Resistance Cohort Analysis database, 1104 patients starting ritonavir-boosted darunavir-containing regimen were included as follows: 118 subsequently failed treatment at a median of 11 months (interquartile range: 5-20); 3 years failure proportion: 24.6%. HIV Drug Resistance Database and ANRS interpretation algorithms were associated with a progressive risk prediction of virological failure at adjusted Cox. In contrast, Rega algorithm allows to identify a higher number of patients at risk of failure, without losing statistical significance. Four mutations (V32I, I50V, L76V, I84V) were predictive of failure, the hazard ratio progressively increased by detecting 1 (hazard ratio: 2.0, 95% confidence interval: 1.3 to 3.0), 2 (3.6, 2.0 to 6.6), or 3 of them (9.7, 2.8 to 33.5).
Published: 2012

5. The role of baseline HIV-1 RNA, drug resistance, and regimen type as determinants of response to first-line antiretroviral therapy

Author: Di Biagio, Antonio, Rusconi, Stefano, Marzocchetti, Angela, Signori, Alessio, Schiavetti, Irene, Bruzzone, Bianca, Monno, Laura, Punzi, Grazia, Colao, Maria Grazia, Penco, Giovanni, Zazzi, Maurizio, De Luca, Andrea, Giacometti, Andrea, Butini, Luca, Del Gobbo, Romana, Bagnarelli, Patrizia, Tacconi, Danilo, Corbelli, Giovanni, Zanussi, Stefania, Maggiolo, Franco, Callegaro, Annapaola, Calza, Leonardo, Maria Carla, Re, Pristerà, Raffaele, Turconi, Paola, Mandas, Antonella, Pozzo, Alessandra, Simeone, Nuccia, Tini, Sauro, Zoncada, Alessia, Paolini, Elisabetta, Amadio, Giorgio, Sighinolfi, Laura, Zuccati, Giuliano, Morfini, Massimo, Manetti, Roberto, Corsi, Paola, Galli, Luisa, Di Pietro, Massimo, Bartalesi, Filippo, Colao, Grazia, Tosti, Andrea, Setti, Maurizio, Trezzi, Michele, Bonfanti, Paolo, Pardelli, Riccardo, Arcidiacono, Irene, Degiuli, Alberto, De Gennaro, Michele, Chiodera, Alessandro, Scalzini, Alfredo, Palvarini, Loredana, Almi, Paolo, Todaro, Giovanni, Cicconi, Paola, Gismondo, Maria Rita, Micheli, Valeria, Biondi, Maria Luisa, Gianotti, Nicola, Capetti, Amedeo, Meraviglia, Paola, Boeri, Enzo, Mussini, Cristina, Pecorari, Monica, Soria, Alessandro, Malandrin, Sergio, Santirocchi, Maurizio, Brustia, Diego, Ravanini, Paolo, Dal Bello, Federico, Romano, Nino, Mineo, Maurizio, Mancuso, Salvatrice, Calzetti, Carlo, Maserati, Renato, Filice, Gaetano, Baldanti, Fausto, Francisci, Daniela, Parruti, Giustino, Polilli, Ennio, Sacchini, Daria, Martinelli, Chiara, Consolini, Rita, Vatteroni, Linda, Vivarelli, Angela, Nerli, Alessandro, Lenzi, Lucia, Magnani, Giacomo, Ortolani, Patrizia, Andreoni, Massimo, Palamara, Guido, Fimiani, Caterina, Palmisano, Lucia, Di Gaimbenedetto, Simona, Colafigli, Manuela, Vullo, Vincenzo, Turriziani, Ombretta, Montano, Marco, Senatore, Cataldo, Dentone, Chiara, Gonnelli, Angela, Palumbo, Michele, Ghisetti, Valeria, Bonora, Stefano, Foglie, Palma Delle, Rossi, Cristina, Grossi, Paolo, Seminari, Elena, Poletti, Federica, Mondino, Vincenzo, and Malena, Marina
Subjects: Adult, Male, Adolescent, Genotype, Antiretroviral Therapy, HIV Infections, Settore MED/17 - MALATTIE INFETTIVE, wGSS, Young Adult, Virology, Antiretroviral Therapy, Highly Active, Drug Resistance, Viral, 80 and over, Humans, Highly Active, HIV-1 RNA, Viral, Longitudinal Studies, CD4, Drug regimen, Drug resistance, N(n)RTI backbone, WGSS, Infectious Diseases, Aged, Aged, 80 and over, Anti-Retroviral Agents, CD4 Lymphocyte Count, Female, HIV-1, Italy, Middle Aged, RNA, Viral, Retrospective Studies, Treatment Outcome, Viral Load, drug regimen, drug resistance, RNA
Abstract: The factors influencing virological response to first-line combined antiretroviral therapy (cART) in an Italian cohort of HIV-1-infected patients were examined. Eligible patients were those enrolled in a national prospective observational cohort (Antiretroviral Resistance Cohort Analysis), starting first-line cART between 2001 and 2011 and who had at least one follow-up of HIV-1 RNA. The primary endpoint was virological success, defined as the first viral load50 copies/ml. Time to events were analyzed by Kaplan-Meier analysis and Cox proportional hazard model. One thousand three hundred five patients met the study inclusion criteria. In a multivariable model adjusting for transmission mode, presence of transmitted drug resistance, baseline CD4(+) cell count, viral subtype, and type of NRTI backbone employed, independent predictors of virological success were higher baseline viral load (≥500,000 vs.100,000 HR 0.52; P 0.001), a weighted genotypic susceptibility score (wGSS)3 (HR 0.58; P = 0.003), male sex (HR 0.76 P = 0.001), and type of initial third drug employed (integrase inhibitor vs. boosted protease inhibitors HR 3.23; P 0.001). In the subset with HIV-1 RNA100,000 copies/ml, virologic success was only associated with the use of integrase inhibitors in the first cART regimen. Independent predictors of immunological success were baseline CD4(+) cell count and wGSS3. High baseline HIV-1 RNA, predicted activity of the first-line regimen based on genotypic resistance testing, gender, and use of new agents were found to predict time to achieve virological success. The type of initial nucleoside analog backbone was not found to predict virological response.
Published: 2014

6. Risk of perinatal HIV infection in infants born in Italy to immigrant mothers

Author: Author:, Chiappini, Galli, E, Lisi, L, Gabiano, C, Giaquinto, C, Giacomet, C, Buffolano, V, Esposito, W, Badolato, S, Berbardi, R, Cellini, S, M, Dodi, I, Faldella, G, Osimani, P, Genovese, O, Nicastro, E, Viscoli, C, Salvini, F, Tovo, Pa, Martino, De, Italian Register for HIV Infection in Children: Maccabruni, Mazza, A, Rabusin, T, Acutis, M, Ruggeri, Ms, Anzidei, M, Casadei, G, Catania, Am, S, Consolini, Rita, Chiappini, E, Galli, L, Lisi, C, Gabiano, C, Giaquinto, C, Giacomet, V, Buffolano, Wilma, Esposito, S, Badolato, R, Berbardi, S, Cellini, M, Dodi, I, Faldella, G, Osimani, P, Genovese, O, Nicastro, Emanuele, Viscoli, C, Salvini, F, Tovo, Pa, Maurizio de, M, Italian Register for HIV Infection in, C. h. i. l. d. r. e. n., Chiappini E., Galli L., Lisi C., Gabiano C., Giaquinto C., Giacomet V., Buffolano W., Esposito S., Badolato R., Berbardi S., Cellini M., Dodi I., Faldella G., Osimani P., Genovese O., Nicastro E., Viscoli C., Salvini F., Tovo PA., Maurizio de M., and Italian Register for HIV Infection in Children.
Subjects: Male, Postnatal Care, Microbiology (medical), Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Immigration, Emigrants and Immigrants, HIV Infections, hiv, infants. TO-CHILD TRANSMISSION, Perinatal hiv, Pregnancy, Risk Factors, Prevalence, Humans, Medicine, Pregnancy Complications, Infectious, media_common, business.industry, Infant, Newborn, Infectious Disease Transmission, Vertical, Infectious Diseases, Italy, Female, business
Published: 2011

7. Update on emergence of HIV-1 resistance to antiretroviral drug classes in an Italian national database: 2007-2009

Author: Di Giambenedetto, S, Prosperi, M, Fanti, I, Bruzzone, B, Paolucci, S, Penco, G, Meini, G, Di Biagio, A, Paolini, E, Micheli, V, Meraviglia, P, Castelli, P, Corsi, P, Gonnelli, A, Fabbiani, M, Zazzi, M, De Luca, A, on behalf of the ARCA Collaborative Group, and Consolini, Rita
Subjects: Male, Databases, Factual, medicine.medical_treatment, Human immunodeficiency virus (HIV), Drug resistance mutations, Drug Resistance, HIV Infections, Drug resistance, medicine.disease_cause, Logistic regression, Nucleoside Reverse Transcriptase Inhibitor, 0302 clinical medicine, Antiretroviral Therapy, Highly Active, Prevalence, 030212 general & internal medicine, Viral, Treatment Failure, Human immunodeficiency virus-1, media_common, 0303 health sciences, General Medicine, Middle Aged, 3. Good health, Antiretroviral therapy, Adult, Anti-HIV Agents, Drug Resistance, Viral, Female, Humans, Italy, Logistic Models, HIV-1, Infectious Diseases, Drug, Microbiology (medical), medicine.medical_specialty, media_common.quotation_subject, Antiretroviral Therapy, Settore MED/17 - MALATTIE INFETTIVE, 03 medical and health sciences, Databases, Acquired immunodeficiency syndrome (AIDS), Internal medicine, medicine, Highly Active, Factual, Protease, 030306 microbiology, business.industry, medicine.disease, Virology, National database, business
Abstract: We analysed trends of human immunodeficiency virus type 1 (HIV-1) drug resistance during 2007–2009 in the Italian national HIV drug resistance database ‘ARCA'. Prevalence of resistance in each year was examined on the basis of the presence of major International AIDS Society-2009 mutations. Predictors of resistance were analysed by multivariable logistic regression. Nine hundred and sixty-six patients were selected. Resistance to nucleoside reverse transcriptase inhibitors and protease inhibitors showed a significant decline with respect to previous surveys. Resistance to any class of drug and three drug classes remained stable. Independent predictors of three-class resistance were the number of treatment regimens experienced, prior suboptimal nucleoside reverse transcriptase inhibitor therapy and the current use of ritonavir-boosted protease inhibitors.
Published: 2011

8. Low Rate of Virological Failure and Maintenance of Susceptibility to HIV-1 Protease Inhibitors with First-Line Lopinavir/Ritonavir-Based Antiretroviral Treatment in Clinical Practice

Author: Prosperi, Mc, Zazzi, M, Punzi, G, Monno, L, Colao, G, Corsi, P, Di Giambenedetto, S, Meini, G, Ghisetti, V, Bonora, S, Pecorari, M, Gismondo, Mr, Bagnarelli, P, Carli, T, De Luca, A, ARCA Collaborative Group, Giacometti, A, Butini, L, del Gobbo, R, Menzo, S, Tacconi, D, Corbelli, G, Zanussi, S, Maggiolo, F, Callegaro, A, Calza, L, Re, Mc, Raffaele, P, Turconi, P, Mandas, A, Tini, S, Zoncada, A, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Galli, L, Di Pietro, M, Bartalesi, F, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, Penco, G, Trezzi, M, Orani, A, Pardelli, R, De Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Monforte, A, Cicconi, P, Rusconi, S, Micheli, V, Biondi, Ml, Gianotti, N, 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, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, Rita, Clinic of Infectious Diseases, Università cattolica del Sacro Cuore [Roma] (Unicatt), Molecular Biology, Microbiology and Virology, Bari University Hospital, Clinical Infectious Diseases, Careggi University Hospital, Unit of Infectious Diseases, Catholic Universisty of Sacred Heart, A. Savoia Hospital, infectiuos diseases, Università degli studi di Torino (UNITO), Modena University Hospital, L. Sacco University Hospital, Ancona University Hospital, Grosseto General Hospital, Institute of Infectious Diseases, Sacro Cuore Catholic University, Infectious Diseases Unit, University Hospital of Siena, Prosperi, M, Zazzi, M, Punzi, G, Monno, L, Colao, G, Corsi, P, Di Giambenedetto, S, Meini, G, Ghisetti, V, Bonora, S, Pecorari, M, Gismondo, M, Bagnarelli, P, Carli, T, De Luca, A, Mancuso, S, Prosperi MC, Zazzi M, Punzi G, Monno L, Colao G, Corsi P, Di Giambenedetto S, Meini G, Ghisetti V, Bonora S, Pecorari M, Gismondo MR, Bagnarelli P, Carli T, De Luca A, ARCA Collaborative Group [.., Giacometti A, Butini L, del Gobbo R, Menzo S, Tacconi D, Corbelli G, Zanussi S, Maggiolo F, Callegaro A, Calza L, Re MC, Raffaele P, Turconi P, Mandas A, Tini S, Zoncada A, Paolini E, Amadio G, Sighinolfi L, and ]
Subjects: Male, Lopinavir/ritonavir, HIV Infections, boosted protease inhibitor, Lopinavir, Cohort Studies, 0302 clinical medicine, Antiretroviral Therapy, Highly Active, virologic failure, HIV Infection, Treatment Failure, 030212 general & internal medicine, Pyrimidinone, 0303 health sciences, education.field_of_study, lopinavir/ritonavir, Viral Load, Resistance mutation, first-line antiretroviral therapy, Reverse Transcriptase Inhibitor, 3. Good health, Treatment Outcome, Infectious Diseases, RNA, Viral, Reverse Transcriptase Inhibitors, Medicine, Drug Therapy, Combination, Female, Survival Analysi, Viral load, Human, medicine.drug, Anti-HIV Agents, Population, Pyrimidinones, Settore MED/17 - MALATTIE INFETTIVE, Emtricitabine, human immunodeficiency virus type 1, 03 medical and health sciences, Virology, Drug Resistance, Viral, antiretroviral drug resistance, medicine, Humans, Protease inhibitor (pharmacology), education, HIV Protease Inhibitor, Ritonavir, 030306 microbiology, business.industry, Anti-HIV Agent, HIV Protease Inhibitors, Survival Analysis, HIV-1, Cohort Studie, business
Abstract: Protease inhibitor (PI)-resistant HIV-1 has hardly ever been detected at failed boosted PI-based first-line antiretroviral regimens in clinical trials. However, this phenomenon has not been investigated in clinical practice. To address this gap, data from patients starting a first-line lopinavir/ritonavir (LPV/rtv)-based therapy with available baseline HIV-1 RNA load, a viral genotype and follow-up viral load after 3 and 6 months of treatment were extracted from the Italian Antiretroviral Resistance Cohort Analysis (ARCA) observational database. Based on survival analysis, 39 (7.1%) and 43 (7.8%) of the 548 examined patient cases had an HIV-1 RNA >500 and >50 copies/ml, respectively, after 6 months of treatment. Cox proportional hazard models detected baseline HIV-1 RNA (RH 1.79, 95%CI 1.10-2.92 per 1 - log10 increase, P = 0.02) and resistance to the nucleoside backbone (RH 1.04, 95%CI 1.02-1.06 per 10-point increase using the Stanford HIVdb algorithm, P < 0.001) as independent predictors of HIV-1 RNA at >500 copies/ml, but not at the >50 copies/ml cutoff criteria. Higher baseline viral load, older patient age, heterosexual route of infection and use of tenofovir/emtricitabine were predictors of failure at month 3 using the 50-copy and/or 500-copy threshold. Resistance to LPV/rtv did not occur or increase in any of the available 36 follow-up HIV-1 genotypes. Resistance to the nucleoside backbone (M184V) developed in four cases. Despite the likely differences in patient population and adherence, both the low rate of virological failure and the lack of development of LPV/rtv resistance documented in clinical trials are thus confirmed in clinical practice. J. Med. Virol. 82:1996-2003, 2010. © 2010 Wiley-Liss, Inc.
Published: 2010

9. Discordance between CD4 cell count and CD4 cell percentage: implications for when to start antiretroviral therapy in HIV-1 infected children

Author: Author:, Boyd, Dunn, K, David, T, Castro, H, Gibb, D. M, Duong, T, Aboulker, J. P, Bulterys, M, Cortina, Borja, Gabiano, M, Galli, C, Giaquinto, L, Harris, C, D. R, Hughes, Mckinney, M, Mofenson, R, Moye, L, Newell, J, M. L, Pahwa, Palumbo, S, Rudin, P, Sharland, C, Shearer, M, Thompson, W, Tookey, B, Corporate Author: HIV Paediatric Prognostic Markers Collaborative Study: Osimani, P., P, Mattia, De, Manzionna, D, M, Bari, Di, Ruggeri, C, Pellegrini, M, Masi, N, Ciccia, M, Lanari, M, Venturi, M, Baldi, V, Chiriacò, F, Schumacher, P, Duse, Rf, Castagna, M, Dessi, M, Dedoni, C, Cavallini, M, Gariel, R, Sabatino, D, Pomero, G, Sticca, G, Anastasio, M, Bezzi, E, Gervaso, Mt, Chiappini, P, Paganelli, E, Cecchi, S, Bassetti, Mt, Rosso, D, Cosso, R, Bartolini, D, Gotta, M, Amoretti, C, Pinzani, C, R, Bojanin, J, Viganò, A, Giacomet, V, Schneider, L, Zuccotti, Gv, Riva, E, Giovannini, M, Ferraris, G, Liprei, R, Moretti, C, Stronati, M, Cellini, M, Del, Carmen, Ciccimarra, M, Buffolano, F, Guarino, W, Bruzzese, A, Tarallo, E, Sanfilippo, L, A, Romano, A, Rampon, O, D'Elia, R, Ruga, E, and Consolini, Rita
Subjects: Male, medicine.medical_specialty, Immunology, HIV Infections, Zidovudine, Pharmacotherapy, Acquired immunodeficiency syndrome (AIDS), Internal medicine, Antiretroviral Therapy, Highly Active, Epidemiology, medicine, Immunology and Allergy, Humans, Longitudinal Studies, Child, business.industry, Proportional hazards model, Infant, medicine.disease, Prognosis, Antiretroviral therapy, United States, CD4 Lymphocyte Count, Natural history, Europe, Infectious Diseases, Child, Preschool, Practice Guidelines as Topic, Disease Progression, HIV-1, Female, business, Cohort study, medicine.drug
Abstract: Objective: Antiretroviral therapy (ART) guidelines for HIV-1-infected children specify both absolute CD4 cell count and CD4 percentage thresholds at which consideration should be given to initiating ART. This leads to clinical dilemma when one marker is below the threshold, whereas the other is above. Design: Data were obtained on a large group of children followed longitudinally in trials and cohort studies in Europe and the USA. Follow-up was censored 6 months after the start of any antiretroviral drug other than zidovudine monotherapy. Methods: Discordance between CD4 cell count and percentage was defined in relation to ART initiation thresholds in World Health Organization (WHO) and European paediatric treatment guidelines. The relative prognostic value of CD4 cell count and percentage for progression to AIDS/death was investigated using time-updated Cox proportional hazards models, stratified by age. Results: Among 3345 children, with a total of 21 815 pairs of CD4 measurements analysed, 980 developed AIDS and/or died after a median follow-up of 1.7 years. Over one-half of children had discordant values of CD4 cell markers at the first visit when one or both treatment thresholds were crossed and approximately one-third had the same pattern of discordance at a subsequent measurement. Models suggested that CD4 percentage had little or no prognostic value over and above that contained in CD4 cell count, irrespective of age. Conclusions: More emphasis should be placed on CD4 cell count than on CD4 percentage in deciding when to start ART in HIV-1-infected children. (C) 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins
Published: 2010

10. Prevalence of mutations and determinants of genotypic resistance to etravirine (TMC125) in a large Italian resistance database (ARCA)

Author: Di Vincenzo, P, Rusconi, S, Adorni, F, Vitiello, P, Maggiolo, F, Francisci, D, Di Biagio, A, Monno, L, Antinori, A, Boeri, E, Punzi, G, Perno, Cf, Callegaro, A, Bruzzone, B, Zazzi, M, on behalf of the ARCA Collaborative Group, and Consolini, Rita
Subjects: Adult, Male, Nevirapine, Efavirenz, Genotype, Drug Resistance, Etravirine, HIV Infections, Drug resistance, viral, male, retrospective studies, multivariate analysis, mutation, HIV infections, female, HIV reverse transcriptase, Italy, genotype, treatment failure, humans, prevalence, HIV-1, pyridazines, adult, anti-retroviral agents, Drug resistance, Biology, computer.software_genre, chemistry.chemical_compound, Drug Resistance, Viral, Nitriles, medicine, Prevalence, Humans, Pharmacology (medical), TMC125, ARCA, Anti-Retroviral Agents, Female, HIV Reverse Transcriptase, Multivariate Analysis, Pyridazines, Retrospective Studies, Treatment Failure, Mutation, Viral, Database, Health Policy, Odds ratio, Settore MED/07 - Microbiologia e Microbiologia Clinica, Virology, Infectious Diseases, Pyrimidines, chemistry, Cohort, computer, Viral load, medicine.drug
Abstract: To evaluate whether etravirine (TMC125) might be effective in patients failing therapy with current nonnucleoside reverse transcriptase inhibitors (NNRTIs), we analysed the prevalence of TMC125 mutations and the possible determinants of genotypic resistance to this drug among sequences reported to a large database in Italy [Antiretroviral Resistance Cohort Analysis (ARCA)].We analysed the prevalence of TMC125 resistance-associated mutations (RAMs) and the TMC125 weighted genotypic score (WGS) together with the determinants of genotypic resistance. A total of 5011 sequences from 2955 patients failing NNRTI therapy were evaluated.Among the sequences in ARCA, 68% had at least one and 9.8% at least three TMC125 RAMs, whereas 31% had a WGS2. Frequent RAMs were Y181C, G190A, K101E and A98G, whereas V179F, Y181V and G190S appeared in5% of sequences. Multivariate analysis revealed a higher risk of developing at least three TMC125 RAMs associated with both nevirapine and efavirenz exposure, whereas CD4 countsor = 200 cells/microL retained their protective effect. An increased risk of WGS2 was linked to higher HIV RNA values (maximum risk at5 log(10) copies/mL) and nevirapine exposure; CD4 countsor = 200 cells/microL were protective.The prevalence of TMC125 resistance mutations in the ARCA cohort was 68%. The DUET studies showed that at least three TMC125-associated mutations were required to impair the efficacy of the drug and Y181C/V, V179F and G190S had the greatest effect on response. The prevalence of these mutations among the patients examined in our study was low. However, WGS2 was found for one-third of our sequences. Previous nevirapine exposure was associated with an increased risk of having WGS2 (adjusted odds ratio 1.76).
Published: 2010

11. Emerging mutations at virological failure of HAART combinations containing tenofovir and lamivudine or emtricitabine

Author: Maserati, R, De Silvestri, A, Uglietti, A, Colao, G, Di Biagio, A, Bruzzone, B, Di Pietro, M, Re, Mc, Tinelli, C, Zazzi, M, on behalf of the ARCA Collaborative Group, Consolini, Rita, Maserati R, De Silvestri A, Uglietti A, Colao G, Di Biagio A, Bruzzone B, Di Pietro M, Re MC, Tinelli C, Zazzi M, and on behalf of the ARCA Collaborative Group.
Subjects: Oncology, Adult, Male, medicine.medical_specialty, HAART, Multivariate analysis, Anti-HIV Agents, Immunology, Drug Resistance, Organophosphonates, Antiretroviral Therapy, HIV Infections, Drug resistance, Antiviral drug resistance, Emtricitabine, Deoxycytidine, Lamivudine, Mutations, Adenine, Analysis of Variance, Antiretroviral Therapy, Highly Active, Drug Resistance, Viral, Female, HIV-1, Humans, Mutation, RNA, Viral, Retrospective Studies, Tenofovir, Treatment Failure, Viral Load, Internal medicine, medicine, Immunology and Allergy, Highly Active, Viral, Reverse-transcriptase inhibitor, business.industry, Odds ratio, Resistance mutation, Infectious Diseases, RNA, business, Cohort study, medicine.drug
Abstract: OBJECTIVE To compare the emergence of drug-resistant HIV variants at failure of lamivudine (3TC)/tenofovir (TDF)-containing or emtricitabine (FTC)/TDF-containing HAART as a consequence of the different 3TC and FTC intracellular half-lives. DESIGN Retrospective evaluation of 859 patients selected from an Italian HIV resistance database (Antiretroviral Resistance Cohort Analysis). METHODS Patients were selected for analysis if treated with a HAART whose nucleoside/nucleotide reverse transcriptase inhibitor backbone was either 3TC/TDF or FTC/TDF; if they experienced a virological failure after at least 6 months of plasma HIV-RNA undetectability; and if HIV genotypes before treatment and at failure were available. Univariate and multivariate logistic regression analyses were done to detect predictors of resistance mutations emerging at failure. RESULTS Of 714 patients failing with 3TC/TDF and 145 with FTC/TDF, 35.8 and 21.1% were in Centers for Disease Control and Prevention stage C, and 8.8 and 15.2% were on first-line HAART, respectively. At multivariate analysis, the emergence of K70R (P = 0.002), M184V (P = 0.031), T215F (P = 0.020) and Y181C (P = 0.005) was significantly more common in 3TC-treated than in FTC-treated patients, with an odds ratio of 4, 1.56, 1.89 and 3.84, respectively. CONCLUSION Despite their close structural similarity, 3TC and FTC are associated with a significantly different rate of drug resistance at treatment failure when combined with TDF in HAART regimens independently of the third drug used.
Published: 2010

12. Rules-based HIV-1 genotypic resistance interpretation systems predict 8 week and 24 week virological antiretroviral treatment outcome and benefit from drug potency weighting

Author: Zazzi, M, Prosperi, M, Vicenti, I, Di Giambenedetto, S, Callegaro, A, Bruzzone, B, Baldanti, F, Gonnelli, A, Boeri, E, Paolini, E, Rusconi, S, Giacometti, A, Maggiolo, F, Menzo, S, De Luca, A, ARCA Collaborative Group, Butini, L, del Gobbo, R, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Calza, L, Re, Mc, Pristerà, R, Turconi, P, Mandas, A, Tini, S, Carnevale, G, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Corsi, P, Galli, L, Di Pietro, M, Bartalesi, F, Colao, G, Tosti, A, Di Biagio, A, Setti, M, Penco, G, Trezzi, M, Orani, A, Pardelli, R, De Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Cicconi, P, Gismondo, Mr, Micheli, V, Biondi, Ml, Gianotti, N, Capetti, A, Meraviglia, P, Mussini, C, Pecorari, M, Santirocchi, M, Brustia, D, Ravanini, P, Dal Bello, F, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Filice, G, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, Rita, Zazzi, M, Prosperi, M, Vicenti, I, Di Giambenedetto, S, Callegaro, A, Bruzzone, B, Baldanti, F, Gonnelli, A, Boeri, E, Paolini, E, Rusconi, S, Giacometti, A, Maggiolo, F, Menzo, S, De Luca, A, Mancuso, S, Zazzi M, Prosperi M, Vicenti I, Di Giambenedetto S, Callegaro A, Bruzzone B, Baldanti F, Gonnelli A, Boeri E, Paolini E, Rusconi S, Giacometti A, Maggiolo F, Menzo S, De Luca A, ARCA Collaborative Group: [.., Butini L, del Gobbo R, Tacconi D, Corbelli G, Zanussi S, Monno L, Punzi G, Calza L, Re M C, Pristerà R, Turconi P, Mandas A, Tini S, and ]
Subjects: Male, interpretation system, HIV Infections, Drug resistance, Logistic regression, Retrospective Studie, HIV Infection, Pharmacology (medical), Microbial Sensitivity Test, Middle Aged, Prognosis, genotype, drug resistance, algorithm, Algorithm, Treatment Outcome, Infectious Diseases, Italy, RNA, Viral, Female, Cohort study, Human, Microbiology (medical), Adult, medicine.medical_specialty, Genotype, Logistic Model, Anti-HIV Agents, Prognosi, antiretroviral, Microbial Sensitivity Tests, Internal medicine, medicine, Potency, Animals, Humans, Retrospective Studies, Pharmacology, Receiver operating characteristic, business.industry, Animal, Anti-HIV Agent, Retrospective cohort study, Odds ratio, genotype, drug potency weighting, Weighting, Logistic Models, ROC Curve, Immunology, HIV-1, business
Abstract: Objectives: To test retrospectively the ability of four freely available rules-based expert systems to predict short- and medium-term virological outcome following an antiretroviral treatment switch in pre-treated HIV-1 patients. Methods: The HIV-1 genotype interpretation systems (GISs) HIVdb, ANRS, Rega and AntiRetroScan were tested for their accuracy in predicting response to highly active antiretroviral therapy using 8 week (n = 765) and 24 week (n = 634) follow-up standardized treatment change episodes extracted from the Italian Antiretroviral Resistance Cohort Analysis (ARCA) database. A genotypic sensitivity score (GSS) was derived for each genotype-treatment pair for the different GISs and tested as a predictor of virological treatment outcome by univariable and multivariable logistic regression as well as by receiver operating characteristic curve analysis. The two systems implementing drug potency weights (AntiRetroScan and Rega) were evaluated with and without this correction factor. Results: All four GSSs were strong predictors of virological treatment outcome at both 8 and 24 weeks after adjusting for baseline viro-immunological parameters and previous drug exposure (odds ratios ranging from 2.04 to 2.43 per 1 unit GSS increase; P < 0.001 for all the systems). The accuracy of AntiRetroScan and Rega was significantly increased by drug potency weighting with respect to the unweighted versions (P ≤ 0.001). HIVdb and ANRS also increased their performance with the same drug potency weighting adopted by AntiRetroScan and Rega, respectively (P < 0.001 for both analyses). Conclusions: Currently available GISs are valuable tools for assisting antiretroviral treatment choices. Drug potency weighting can increase the accuracy of all systems. © The Author 2009. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved.
Published: 2009

13. The second generation of HIV-1 vertically exposed infants: a case series from the Italian Register for paediatric HIV infection

Author: Carmelina, Calitri, Clara, Gabiano, Luisa, Galli, Elena, Chiappini, Carlo, Giaquinto, Wilma, Buffolano, Orazio, Genovese, Susanna, Esposito, Stefania, Bernardi, Maurizio De Martino, Pier Angelo Tovo, Osimani, P, Larovere, D, Ruggeri, M, Pession, A, Faldella, G, Capra, F, Pulcini, S, Zattoni, V, Dedoni, M, Aliffi, A, Anastasio, E, Fiumana, E, Gervaso, P, Montagnani, C, Di Biagio, A, Nicolini, La, De Hoffer, L, Acutis, Ms, Bondi, E, Erba, P, Fabiano, V, Ramponi, G, Salvini, F, Lipreri, R, Esposito, S, Plebani, A, Tagliabue, C, Giubbarelli, F, Nicastro, E, Lo Vecchio, A, Buffolano, W, Agnese, M, Romano, A, Giaquinto, C, Rampon, O, Pennazzato, M, Consolini, Rita, Dodi, I, Maccabruni, A, Genovese, O, Palma, P, Pontrelli, G, Tchidjou, H, Olmeo, P, Mazza, A, Silvestro, E, Virano, S, Portelli, V, Rabusin, M, and Pellegatta, A.
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Pediatric hiv, Anti-HIV Agents, Birth weight, HIV Infections, Young Adult, Medical microbiology, Pregnancy, Antiretroviral Therapy, Highly Active, medicine, Birth Weight, Humans, Prospective Studies, Young adult, Pregnancy Complications, Infectious, Prospective cohort study, AZT, Drug-resistant virus, HIV-1, Vertical transmission, Cesarean Section, Child, Female, Infant, Italy, Pregnancy Outcome, Viral Load, Zidovudine, Infectious Disease Transmission, Vertical, Infectious Diseases, business.industry, virus diseases, medicine.disease, Antiretroviral therapy, Settore MED/38, business, Viral load, Research Article
Abstract: Background In the Highly Active Antiretroviral Therapy (HAART) era, the prognosis of children perinatally infected with HIV-1 has significantly improved, so the number of perinatally-infected females entering child-bearing age and experiencing motherhood is increasing. Methods A description of the medical history and pregnancy outcomes of women with perinatal acquired HIV-1 infection enrolled in the Italian Register for HIV infection in Children. Results Twenty-three women had 29 pregnancies. They had started an antiretroviral therapy at a median of 7.7 years (interquartile range, IQR 2.3 - 11.4), and had experienced a median of 4 therapeutic regimens (IQR 2–6). Twenty women (87%) had taken zidovudine (AZT) before pregnancy, in 14 cases as a starting monotherapy. In 21 pregnancies a protease inhibitor-based regimen was used. At delivery, the median of CD4+ T lymphocytes was 450/μL (IQR 275–522), and no viral load was detectable in 15 cases (reported in 21 pregnancies). Twenty-eight children were delivered through caesarean section (median gestational age: 38 weeks, IQR 36–38, median birth weight: 2550 grams, IQR 2270 – 3000). Intravenous AZT was administered during delivery in 26 cases. All children received oral AZT (median: 42 days, IQR 31 – 42), with no adverse events reported. No child acquired HIV-1 infection. Conclusions Despite a long history of maternal infection, multiple antiretroviral regimens and, perhaps, the development of drug-resistant viruses, the risk of mother-to-child transmission does not seem to have increased among the second-generation of HIV-1 exposed infants.
Published: 2014

14. Use of Post‐Natal Antiretroviral Prophylaxis for Prevention of Mother‐to‐Child Transmission of HIV Is Increasing in Italy

Author: Author:, Chiappini, Galli, E, Tovo, L, Gabiano, Pa, Buffolano, C, Cellini, W, Portelli, M, Esposito, V, S, Gotta, C, Martino, De, Italian Register for HIV Infection in Children: Boscardini, M., L, Rioi, Da, Cristiano, R, Bernardi, L, Genovese, S, Casadei, O, Anastasio, E, Giannattasio, A, Tarallo, L, Viganò, A, Salvini, F, Lipreri, R, Romano, A, Dalle, Nogare, Maccabruni, E, Giaquinto, A, Cosso, C, Bondi, D, Rosso, E, Mazza, R, Pellegatta, A, Dedoni, A, Larovere, M, Baldi, D, Faldella, F, Masi, G, Ciccia, M, Dodi, M, Paolo, I, Rabusin, F, Quercia, M, Ruggeri, M, Abbagnato, M, Osimani, L, Badolato, P, R, Consolini, Rita, Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Buffolano, Wilma, Cellini, M, Portelli, V, Esposito, S, Gotta, C, and de Martino, M.
Subjects: Male, Microbiology (medical), Pediatrics, medicine.medical_specialty, Anti-HIV Agents, MEDLINE, HIV Infections, Chemoprevention, Zidovudine, medicine, Humans, Maternal Transmission, Infectious disease transmission, business.industry, Infant, Newborn, Prevention of mother to child transmission, Virology, Infectious Disease Transmission, Vertical, Infectious Diseases, Italy, Chemoprophylaxis, Female, Disease prevention, business, Viral load, medicine.drug
Published: 2009

15. Serum amyloid protein A concentration in cryopyrin-associated periodic syndrome patients treated with interleukin-1 beta antagonist

Author: Pastore, S, Paloni, G, Caorsi, R, Ronfani, L, Taddio, A, Lepore, L, CAPS Italian Register, Alessio, M, Cantarini, L, Cattalini, M, Consolini, Rita, Gattorno, R, Gerloni, V, Insalaco, A, Martini, G, Martini, S, Obici, L, Rigante, D., Pastore, Serena, Paloni, Giulia, Caorsi, Roberta, Ronfani, Luca, Taddio, Andrea, Lepore, Loredana, Pastore, S., Paloni, G., Caorsi, R., Ronfani, L., Taddio, A., Lepore, L., Alessio, M., Cantarini, L., Cattalini, M., Consolini, R., Gattorno, M., Gerloni, V., Insalaco, A., Martini, G., Martino, S., Obici, L., and Rigante, D.
Subjects: Adult, Male, Cryopyrin-associated periodic syndrome, Adolescent, Interleukin-1beta, IL-1β inhibitor, Immunosuppressive Agent, Young Adult, Amyloidosi, Humans, Child, Preschool, Inflammation, Serum Amyloid A Protein, Child, Preschool, Drug Monitoring, Female, Immunosuppressive Agents, Middle Aged, Treatment Outcome, Amyloidosis, Cryopyrin-Associated Periodic Syndromes, IL-1 beta inhibitor, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Serum amyloid protein A, serum amyloid protein A, cryopyrin-associated periodic syndromes, amyloidosis, inflammation, Human
Abstract: Objective: Cryopyrin-associated periodic syndromes (CAPS) are a group of chronic, relapsing autoinflammatory disorders which may be complicated by systemic AA amyloidosis. The aim of our study was to evaluate serum amyloid protein A (SAA) level in CAPS patients treated with Interleukin-1 beta (IL-1β) antagonist and to correlate its level with treatment response. Methods: All patients of CAPS Italian Register treated with IL-1β inhibitor were enrolled. SAA levels before starting therapy, and at last visit were evaluated. Patients were then divided in complete responders and partial responders. Results: Twenty-five patients were enrolled. SAA level before starting therapy was increased (median 118.5 mg/L, IQR 96.4-252.8; normal value < 6.4 mg/L), while at last visit SAA was significantly reduced (median 4.3 mg/L, IQR 2.3-12.7) (p < 0.001). However 12 patients still presented SAA levels beyond normal range, 10/25 patients (40%) showed a complete response to treatment. Conversely, 15 patients presented only a partial response, of which 12 for increased SAA value and 3 for increased CRP value. Patients with partial response had SAA values significantly higher than patients with complete response (median 12.6 mg/L; IQR 8.3-20.0 vs. 2.7 mg/L; IQR 1.6-4.1, p < 0.001). Conclusion: Our results confirm the long term efficacy of anti IL-1β treatment in CAPS and the decrease of SAA levels; however 48% of patients still presented SAA elevation despite treatment. The real risk of these patients in developing amyloidosis is not clear but the persistent increase of SAA needs a close follow-up.

16. 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

17. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome

Author: Stefano Volpi, Francesca Conti, Baldassarre Martire, Emanuela Ricotti, Silvia Ricci, Ugo Ramenghi, Francesco Licciardi, Donato Amodio, Carmela Giancotta, Grazia Bossi, Chiara Azzari, Agostina Marolda, Marco Gattorno, Francesca Robasto, Giuliana Giardino, Caterina Cancrini, Claudio Pignata, Marzia Duse, Alessandro Plebani, Lucia Leonardi, Rosa Maria Dellepiane, Annarosa Soresina, Rita Consolini, Silvana Martino, Maria Caterina Putti, Francesca Ferro, Davide Montin, Giacomo Scaioli, Lucia Augusta Baselli, Silvia Di Cesare, Montin, Davide, Marolda, Agostina, Licciardi, Francesco, Robasto, Francesca, Di Cesare, Silvia, Ricotti, Emanuela, Ferro, Francesca, Scaioli, Giacomo, Giancotta, Carmela, Amodio, Donato, Conti, Francesca, Giardino, Giuliana, Leonardi, Lucia, Ricci, Silvia, Volpi, Stefano, Baselli, Lucia Augusta, Azzari, Chiara, Bossi, Grazia, Consolini, Rita, Dellepiane, Rosa Maria, Duse, Marzia, Gattorno, Marco, Martire, Baldassarre, Caterina Putti, Maria, Soresina, Annarosa, Plebani, Alessandro, Ramenghi, Ugo, Martino, Silvana, Pignata, Claudio, and Cancrini, Caterina
Subjects: Male, Hemolytic anemia, T-Lymphocytes, Lymphocyte, NK cells, Gastroenterology, 0302 clinical medicine, Immunophenotyping, Immunology and Allergy, 030212 general & internal medicine, CD4 naïve cell, Child, hemolytic anemia, B-Lymphocytes, thrombocytopenic purpura, 22q11.2 deletion syndrome, Autoimmune cytopenia, B immunophenotype, CD4 naïve cells, DiGeorge syndrome, Switched memory B cells, T immunophenotype, Thrombocytopenic purpura, Middle Aged, diGeorge syndrome, medicine.anatomical_structure, Child, Preschool, Female, Switched memory B cell, autoimmune cytopenia, switched memory B cells, Autoimmune hemolytic anemia, Adolescent, Adult, Autoimmune Diseases, Case-Control Studies, DiGeorge Syndrome, Humans, Lymphopenia, Young Adult, medicine.medical_specialty, Naive B cell, 03 medical and health sciences, Internal medicine, medicine, NK cell, Preschool, Survival rate, Settore MED/38 - Pediatria Generale e Specialistica, Cytopenia, business.industry, medicine.disease, 030228 respiratory system, business
Abstract: Background Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia. There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients. Objective To describe the peculiar B and T subpopulation defects in patients with 22q11DS who have developed HA and test if these defects precede the development of HA. Methods We performed a case-control multicenter study. Patients with HA were compared with a control population of 22q11.2DS without HA (non-HA). A complete immunological evaluation was performed at diagnosis and at the last follow-up including extensive T and B phenotypes. Results Immunophenotype at the last follow-up was available in 23 HA and 45 non-HA patients. HA patients had significantly decreased percentage of naive CD4+ cells (26.8% vs 43.2%, P = .003) and recent thymic emigrants (48.6% vs 80.5%, P = .046); decreased class-switched B cells (2.0% vs 5.9%, P = .04) and increased naive B cells (83.5% vs 71.4%, P = .02); increased CD16+/56+ both in absolute number (312 vs 199, P = .009) and percentage (20.0% vs 13.0%, P = .03). Immunophenotype was performed in 36 patients (11 HA and 25 non-HA) at diagnosis. Odds ratio (OR) of immune cytopenia were estimated for both CD4 naive ≤30% (OR 14.0, P = .002) and switched memory B cells ≤2% (OR 44.0, P = .01). The estimated survival curves reached statistical significance, respectively, P = .0001 and P = .002. Conclusions Among patients with 22q11.2DS, those with HA have characteristic lymphocyte anomalies that appear considerably before HA onset. Systematic immunophenotyping of patients with 22q11.2DS at diagnosis is advisable for early identification of patients at risk for this severe complication.
Published: 2019

18. 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

19. Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

Author: Adriana Apostol, Matilda Laday, Michael Hofer, Amita Aggarwal, Pierre Quartier, Dirk Foell, Raju Khubchandani, Nikolay Tzaribachev, Patrizia Barone, Angela Pistorio, Ivan Foeldvari, Angela Miniaci, Pamela Weiss, Nicolino Ruperto, Violeta Panaviene, Claudia Saad Magalhães, Betül Sözeri, Gordana Vijatov-Djuric, Erkan Demirkaya, Carine Wouters, Calin Lazar, Rubén Burgos-Vargas, Tamás Constantin, Zoilo Morel Ayala, Carmen De Cunto, Elena Tsitsami, Marta Torcoletti, B Varbanova, Angelo Ravelli, Nahid Shafaie, Soad Hashad, Maria Greca Magnolia, José Melo-Gomes, Kirsten Minden, Ilonka Orbán, Flavio Sztajnbok, Maka Ioseliani, Ingrida Rumba-Rozenfelde, Silvia Magni Manzoni, Francesca Bovis, Berit Flatø, Stella Garay, Olga Arguedas, Maria Cristina Maggio, Yahya Aghighi, Sujata Sawhney, Francesco La Torre, Ruben Cuttica, Jaime de Inocencio, Clara Malagon, Alina Boteanu, Gerd Horneff, Silvana Martino, Sulaiman M. Al-Mayouf, Alberto Martini, Maria Trachana, Christiaan Scott, Rolando Cimaz, Nuray Aktay Ayaz, Maya-Feriel Aiche, Irina Nikishina, Valeria Gerloni, Sylvia Kamphuis, Olga Vougiouka, Dirk Holzinger, Reza Shiari, Sara Pieropan, Nico M Wulffraat, Inmaculada Calvo Penades, MM Katsicas, Pablo Mesa-del-Castillo, Lidia Rutkowska-Sak, Cristina Herrera, Jelena Vojinovic, Daniel J. Lovell, Erbil Unsal, Miroslav Harjacek, Yosef Uziel, Dimitrina Mihaylova, Gordana Susic, Susan Nielsen, Pekka Lahdenne, Soamarat Vilaiyuk, Rita Consolini, Ekaterina Alexeeva, Chris Pruunsild, Gaëlle Chédeville, Nicolae Iagaru, Ozgur Kasapcopur, Troels Herlin, Anne Estmann Christensen, Yaryna Boyko, Carolina Montobbio, Sarah Ringold, Johannes-Peter Haas, Gerd Ganser, Jordi Anton, Marite Rygg, Liisa Kröger, Reem Abdwani, Pavla Dolezalova, Paivi Miettunen, Rosa Anna Podda, Sheila Knupp Feitosa de Oliveira, Graciela Espada, Richard Vesely, Merja Malin, Liora Harel, Veronika Vargova, Mohammad Hasan Moradinejad, Neil A. Martin, Adele Civino, Tadej Avcin, Hans-Iko Huppertz, Ellen Nordal, Ximena Norambuena, Alessandra Alongi, Serena Pastore, Karaman Pagava, Maria Ekelund, Donato Rigante, Rotraud K. Saurenmann, Lillemor Berntson, Tomáš Dallos, Elżbieta Smolewska, Rik Joos, Andrea Militaru, Alessandro Consolaro, C. Ailioaie, Romina Gallizzi, Gabriella Giancane, Agustin Remesal, Anuela Kondi, Safiya Al-Abrawi, Anne Putto-Laurila, Joost F Swart, Paula Vähäsalo, Evert Hendrik Pieter van Dijkhuizen, Amparo Ibanez Estrella, Yasser El Miedany, Consolaro, Alessandro, Giancane, Gabriella, Alongi, Alessandra, van Dijkhuizen, Evert Hendrik Pieter, Aggarwal, Amita, Al-Mayouf, Sulaiman M, Bovis, Francesca, De Inocencio, Jaime, Demirkaya, Erkan, Flato, Berit, Foell, Dirk, Garay, Stella Mari, Lazăr, Călin, Lovell, Daniel J, Montobbio, Carolina, Miettunen, Paivi, Mihaylova, Dimitrina, Nielsen, Susan, Orban, Ilonka, Rumba-Rozenfelde, Ingrida, Magalhães, Claudia Saad, Shafaie, Nahid, Susic, Gordana, Trachana, Maria, Wulffraat, Nico, Pistorio, Angela, Martini, Alberto, Ruperto, Nicolino, Ravelli, Angelo, Abdwani, Reem, Aghighi, Yahya, Aiche, Maya-Feriel, Ailioaie, Constantin, Aktay Ayaz, Nuray, Al-Abrawi, Safiya, Alexeeva, Ekaterina, Anton, Jordi, Apostol, Adriana, Arguedas, Olga, Avcin, Tadej, Barone, Patrizia, Berntson, Lillemor, Boteanu, Alina Lucica, Boyko, Yaryna, Burgos-Vargas, Ruben, Calvo Penades, Inmaculada, Chédeville, Gaëlle, Cimaz, Rolando, Civino, Adele, Consolini, Rita, Constantin, Tama, Cuttica, Ruben, Dallos, Toma, Martin, Neil, Magni Manzoni, Silvia, De Cunto, Carmen, Dolezalova, Pavla, Ekelund, Maria, El Miedany, Yasser, Espada, Graciela, Estmann Christensen, Anne, Foeldvari, Ivan, Gallizzi, Romina, Ganser, Gerd, Gerloni, Valeria, Haas, Johannes-Peter, Harel, Liora, Harjacek, Miroslav, Hashad, Soad, Herlin, Troel, Herrera, Cristina, Hofer, Michael, Holzinger, Dirk, Horneff, Gerd, Huppertz, Hans-Iko, Iagăru, Nicolae, Ibanez Estrella, Amparo, Ioseliani, Maka, Joos, Rik, Knupp Oliveira, Sheila, Kamphuis, Sylvia, Kasapcopur, Ozgur, Katsicas, Maria Martha, Khubchandani, Raju, Kondi, Anuela, Kröger, Liisa, La Torre, Francesco, Laday, Matilda, Lahdenne, Pekka, Maggio, Maria Cristina, Magnolia, Maria Greca, Malagon, Clara, Malin, Merja, Martino, Silvana, Melo-Gomes, Jose Antonio, Mesa-del-Castillo, Pablo, Militaru, Andrea, Minden, Kirsten, Miniaci, Angela, Moradinejad, Mohammad Hasan, Morel Ayala, Zoilo, Nikishina, Irina, Norambuena, Ximena, Nordal, Ellen Berit, Pagava, Karaman, Panaviene, Violeta, Pastore, Serena, Pieropan, Sara, Podda, Rosa Anna, Pruunsild, Chri, Putto-Laurila, Anne, Quartier, Pierre, Remesal, Agustin, Rigante, Donato, Ringold, Sarah, Rutkowska-Sak, Lidia, Rygg, Marite, Saurenmann, Rotraud Katharina, Sawhney, Sujata, Scott, Christiaan, Shiari, Reza, Smolewska, Elzbieta, Sozeri, Betul, Swart, Joost Fran, Sztajnbok, Flavio, Torcoletti, Marta, Tsitsami, Elena, Tzaribachev, Nikolay, Unsal, Erbil, Uziel, Yosef, Vähäsalo, Paula, Varbanova, Boriana, Vargova, Veronika, Vesely, Richard, Vijatov-Djuric, Gordana, Vilaiyuk, Soamarat, Vojinovic, Jelena, Vougiouka, Olga, Weiss, Pamela, Wouters, Carine, Pediatrics, Univ Genoa, Wilhelmina Childrens Hosp, Sanjay Gandhi Postgrad Inst Med Sci, Univ Hosp 12 Octubre, Alfaisal Univ, Western Univ Childrens Hosp, Oslo Univ Hosp, Univ Oslo, Univ Hosp Munster, Hosp Sor Maria Ludovica, Bucharest Emergency Hosp, Childrens Emergency Hosp, Cincinnati Childrens Hosp Med Ctr, Alberta Childrens Prov Gen Hosp, Sofiamed, Rigshosp, Natl Inst Rheumatism & Physiotherapy, Univ Latvia, Universidade Estadual Paulista (Unesp), Shariati Hosp, Inst Rheumatol Belgrade, and Thessaloniki Univ
Subjects: Male, medicine.medical_specialty, Childhood arthritis, Cross-sectional study, Population, Global Health, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Epidemiology, medicine, Developmental and Educational Psychology, Journal Article, Humans, Pediatrics, Perinatology and Child Health, 030212 general & internal medicine, Healthcare Disparities, Child, education, Disease burden, Pain Measurement, Retrospective Studies, education.field_of_study, Oligoarthritis, business.industry, Perinatology and Child Health, Juvenile idiopathic arthritis, medicine.disease, JUVENILE IDIOPATHIC ARTHRITIS, OF-RHEUMATOLOGY RECOMMENDATIONS, DISEASE-ACTIVITY SCORE, DEFINING CRITERIA, CLASSIFICATION, CHILDREN, EPIDEMIOLOGY, VALIDATION, COUNTRIES, VALIDITY, Arthritis, Juvenile, childhood arthritis,phenotypic variability,observational cohort study, Cross-Sectional Studies, Biological Variation, Population, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Antirheumatic Agents, Child, Preschool, Quality of Life, Female, Polyarthritis, Juvenile idiopatic arthritis, of-rheumatology recommentadions, disease-activity score, defining criteria, classification, children, epidemiology, validation, countries, validity, business, Demography, Cohort study
Abstract: Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile idiopathic arthritis, according to International League of Associations for Rheumatology criteria, who were seen consecutively for a period of 6 months. Each patient underwent retrospective and cross-sectional assessments, including measures of disease activity and damage and questionnaires on the wellbeing and quality of life of the children. We qualitatively compared the collected data across eight geographical areas, and we explored an association between disease activity and damage and a country's gross domestic product (GDP) with a multiple logistic regression analysis. Findings Between April 4, 2011, and Nov 21, 2016, 9081 patients were enrolled at 130 centres in 49 countries, grouped into eight geographical areas. Systemic arthritis (125 [33.0%] of 379 patients) and enthesitis-related arthritis (113 [29.8%] of 379) were more common in southeast Asia, whereas oligoarthritis was more prevalent in southern Europe (1360 [56.7%] of 2400) and rheumatoid factor-negative polyarthritis was more frequent in North America (165 [31.5%] of 523) than in the other areas. Prevalence of uveitis was highest in northern Europe (161 [19.1%] of 845 patients) and southern Europe (450 [18.8%] of 2400) and lowest in Latin America (54 [6.4%] of 849), Africa and Middle East (71 [5.9%] of 1209), and southeast Asia (19 [5.0%] of 379). Median age at disease onset was lower in southern Europe (3.5 years, IQR 1.9-7.3) than in other regions. Biological, disease-modifying antirheumatic drugs were prescribed more frequently in northern Europe and North America than in other geographical settings. Patients living in countries with lower GDP had greater disease activity and damage than those living in wealthier countries. Damage was associated with referral delay. Interpretation Our study documents a variability in prevalence of disease phenotypes and disparities in therapeutic choices and outcomes across geographical areas and wealth status of countries. The greater disease burden in lowerresource settings highlights the need for public health efforts aimed at improving equity in access to effective treatments and care for juvenile idiopathic arthritis. Copyright (C) 2019 Elsevier Ltd. All rights reserved. Univ Genoa, Ist Giannina Gaslini, IRCCS, Clin Paediat & Rheumatol, Genoa, Italy Univ Genoa, Ist Giannina Gaslini, IRCCS, Epidemiol & Biostat Serv, Genoa, Italy Univ Genoa, Ist Giannina Gaslini, IRCCS, Sci Directory, Genoa, Italy Univ Genoa, PRINTO, IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Wilhelmina Childrens Hosp, Dept Pediat Immunol & Rheumatol, Utrecht, Netherlands Sanjay Gandhi Postgrad Inst Med Sci, Lucknow, Uttar Pradesh, India Univ Hosp 12 Octubre, Dept Pediat Rheumatol, Madrid, Spain Alfaisal Univ, Dept Pediat Rheumatol, King Faisal Specialist Hosp, Riyadh, Saudi Arabia Alfaisal Univ, Res Ctr, Riyadh, Saudi Arabia Western Univ Childrens Hosp, Hlth Sci Ctr, London, ON, Canada Oslo Univ Hosp, Dept Rheumatol, Oslo, Norway Oslo Univ Hosp, Med Fac, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Norwegian Natl Advisory Unit Rheumat Dis Children, Oslo, Norway Univ Hosp Munster, Dept Pediat Rheumatol & Immunol, Munster, Germany Hosp Sor Maria Ludovica, Rheumatol Serv, La Plata, Buenos Aires, Argentina Bucharest Emergency Hosp, Cluj Napoca, Romania Childrens Emergency Hosp, Cluj Napoca, Romania Cincinnati Childrens Hosp Med Ctr, Div Rheumatol, Cincinnati, OH 45229 USA Alberta Childrens Prov Gen Hosp, Div Pediat Rheumatol, Dept Pediat, Calgary, AB, Canada Sofiamed, Pediat Dept, Sofia, Bulgaria Rigshosp, Juliane Marie Ctr, Paediat Rheumatol Unit, Copenhagen, Denmark Natl Inst Rheumatism & Physiotherapy, Clin Immunol Adult & Paediat Rheumatol Dept, Budapest, Hungary Univ Latvia, Pediat Dept, Riga, Latvia Univ Latvia, Univ Childrens Hosp, Riga, Latvia Univ Estadual Paulista, Botucatu Fac Med, Botucatu, SP, Brazil Shariati Hosp, Rheumatol Res Ctr, Dept Pediat & Rheumatol, Tehran, Iran Inst Rheumatol Belgrade, Div Pediat Rheumatol, Belgrade, Serbia Thessaloniki Univ, Dept Pediat 1, Hippokrat Gen Hosp, Sch Med, Thessaloniki, Greece Univ Estadual Paulista, Botucatu Fac Med, Botucatu, SP, Brazil
Published: 2019

20. The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

Author: Adele Civino, Claudia Toppino, Francesca Perfetti, Monica Tonelli, Silvia Scala, Alessandro Consolaro, Silvia Magni-Manzoni, Angela Miniaci, Francesca Bovis, Nicolino Ruperto, Patrizia Barone, Angela Pistorio, Donato Rigante, Giovanni Filocamo, Francesco La Torre, Elisabetta Cortis, Alberto Martini, Romina Gallizzi, Fabrizio De Benedetti, Fabrizia Corona, Rolando Cimaz, Sara Pieropan, Rita Consolini, Serena Pastore, Rosa Anna Podda, Angelo Ravelli, Valeria Gerloni, Elisa Patrone, Silvana Martino, Francesco Licciardi, Maria Cristina Maggio, Daniela Tani, Marco Garrone, Consolaro, Alessandro, Bovis, Francesca, Pistorio, Angela, Cimaz, Rolando, De Benedetti, Fabrizio, Miniaci, Angela, Corona, Fabrizia, Gerloni, Valeria, Martino, Silvana, Pastore, Serena, Barone, Patrizia, Pieropan, Sara, Cortis, Elisabetta, Podda, Rosa Anna, Gallizzi, Romina, Civino, Adele, Torre, Francesco La, Rigante, Donato, Consolini, Rita, Maggio, Maria Cristina, Magni-Manzoni, Silvia, Perfetti, Francesca, Filocamo, Giovanni, Toppino, Claudia, Licciardi, Francesco, Garrone, Marco, Scala, Silvia, Patrone, Elisa, Tonelli, Monica, Tani, Daniela, Ravelli, Angelo, Martini, Alberto, and Ruperto, Nicolino
Subjects: Gerontology, Male, Parents, Patient Reported Outcome Measure, Psychometrics, Health Status, Arthritis, Juvenile, Predictive Value of Test, Health Statu, Disability Evaluation, 0302 clinical medicine, Medicine, Immunology and Allergy, Functional ability, Age of Onset, Child, JAMAR, Patient, Prognosis, Disease status, Health Related Quality of Life, Juvenile idiopathic arthritis, Adolescent, Arthritis, Juvenile, Case-Control Studies, Child, Preschool, Cultural Characteristics, Female, Humans, Italy, Patients, Predictive Value of Tests, Quality of Life, Reproducibility of Results, Rheumatology, Translating, Patient Reported Outcome Measures, Cultural Characteristic, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Predictive value of tests, Case-Control Studie, Psychometric, Human, medicine.medical_specialty, Prognosi, Immunology, Reproducibility of Result, 03 medical and health sciences, Juvenile idiopathic arthriti, Quality of life (healthcare), Disease status, Functional ability, Health Related Quality of Life, JAMAR, Juvenile idiopathic arthritis, Adolescent, Age of Onset, Arthritis, Juvenile, Case-Control Studies, Child, Child, Preschool, Cultural Characteristics, Female, Health Status, Humans, Italy, Male, Parents, Patients, Predictive Value of Tests, Prognosis, Psychometrics, Quality of Life, Reproducibility of Results, Rheumatology, Translating, Disability Evaluation, Patient Reported Outcome Measures, 030225 pediatrics, Internal medicine, Validation Studies, Disease statu, Preschool, 030203 arthritis & rheumatology, business.industry, medicine.disease, Parent, Age of onset, business
Abstract: The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test–retest reliability, and construct validity (convergent and discriminant validity). A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Health Related Quality of Life (HRQoL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
Published: 2018

21. 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

22. 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

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22 results on '"Consolini, Rita"'

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22. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

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