"Consolini R." / Topic: immunology - Searchworks@Jio Institute Digital Library Search Results

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39 results on '"Consolini R."'

1. The decrease of Kawasaki syndrome during the second COVID-19 wave: a potential, unexpected effect of social distancing

Author: Mastrolia, Mv, Agostiniani, R, Azzari, C, Bernardini, R, Bottone, U, Calabri, Gb, Civitelli, F, Consolini, R, Danieli, R, Di Silvio, R, Falorni, S, Gagliardi, L, Grosso, S, Indolfi, G, L'Erario, M, Martini, M, Memmini, G, Peroni, D, Pezzati, M, Suriano, G, Tafi, L, Trapani, S, Vaccaro, A, Vasarri, Pl, and Gabriele, S
Subjects: Rheumatology, SARS-CoV-2, Immunology, Physical Distancing, Immunology and Allergy, COVID-19, Humans, Mucocutaneous Lymph Node Syndrome
Published: 2021

2. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author: Haar, N. Ter, Jeyaratnam, J., Lachmann, H.J., Simon, A., Brogan, P.A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E.P., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., and Gattorno, M.
Subjects: Diarrhea, Male, Adolescent, Genotype, Vomiting, Immunology, Lymphadenopathy, Mevalonic Aciduria, Eurofever Project, Hereditary Autoinflammatory Disease, Hyper IgD syndrome, Mevalonate Kinase Deficiency, Mevalonic Aciduria, Skin Diseases, Uveitis, Rheumatology, Cerebellar Diseases, Intellectual Disability, Journal Article, Immunology and Allergy, Humans, Registries, Hyper IgD syndrome, Age of Onset, Child, Preschool, Eurofever Project, Retrospective Studies, Stomatitis, Arthritis, Infant, Newborn, Headache, Infant, Pharyngitis, Amyloidosis, Myalgia, Aphthous, Conjunctivitis, Newborn, Arthralgia, Hereditary Autoinflammatory Disease, Abdominal Pain, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Stomatitis, Aphthous, Female, Mevalonate Kinase Deficiency, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract: OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.
Published: 2016

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

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

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

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

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

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

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

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

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

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

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

10. Detection of drug resistance mutations at low plasma HIV-1 RNA load in a European multicentre cohort study

Author: Prosperi, Mc1, Mackie, N, Di Giambenedetto, S, Zazzi, M, Camacho, R, Fanti, I, Torti, C, Sönnerborg, A, Kaiser, R, Codoñer, Fm, Van Laethem, K, Bansi, L, van de Vijver DA, Geretti, Am, De Luca, A, Giacometti A, SEHERE c. o. n. s. o. r. t. i. u. m., Butini, L, del Gobbo, R, Menzo, S, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Maggiolo, F, Callegaro, A, Calza, L, Carla Re, M, 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, d'Arminio Monforte, A, 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, Bello, Fd, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Filice, G, Baldanti, F, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Dionisio, D, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, Fadda, G, Vullo, Vincenzo, Turriziani, O, Montano, M, Cenderello, G, Gonnelli, A, Palumbo, M, Ghisetti, V, Bonora, S, Foglie, Pd, Rossi, C, Grossi, P, Seminari, E, Poletti, F, Mondino, V, Malena, M, Lattuada, E, Lengauer, T, Däumer, M, Hoffmann, D, Schülter, E, Müller, C, Oette, M, Reuter, S, Esser, S, Fätkenheuer, G, Rockstroh, J, Incardona, F, Rosen Zvi, M, Clotet, B, Thalme, A, Svedhem, V, Bratt, G, Gargiulo, F, Lapadula, G, Manca, N, Paraninfo, G, Quiros Roldan, E, Carosi, G, Castelnuovo, F, Vandamme, Am, Van Wijngaerden, E, Ainsworth, J, Anderson, J, Babiker, A, Dunn, D, Easterbrook, P, Fisher, M, Gazzard, B, Garrett, N, Gilson, R, Gompels, M, Hill, T, Johnson, M, Leen, C, Orkin, C, Phillips, A, Pillay, D, Porter, K, Post, F, Sabin, C, Sadiq, T, Schwenk, A, Walsh, J, Delpech, V, Palfreeman, A, Glabay, A, Lynch, J, Hand, J, de Souza, C, Perry, N, Tilbury, S, Churchill, D, Nelson, M, Waxman, M, Mandalia, S, Kall, M, Korat, H, Taylor, C, Ibrahim, F, Campbell, L, James, L, Brima, N, Williams, I, Youle, M, Lampe, F, Smith, C, Grabowska, H, Chaloner, C, Puradiredja, Di, Weber, J, Ramzan, F, Carder, M, Wilson, A, Dooley, D, Asboe, D, Pozniak, A, Cameron, S, Cane, P, Chadwick, D, Clark, D, Collins, S, Lazarus, L, Dolling, D, Fearnhill, E, Castro, H, Coughlin, K, Zuckerman, M, Booth, C, Goldberg, D, Hale, A, Kaye, S, Kellam, P, Leigh Brown, A, Smit, E, Templeton, K, Tilston, P, Tong, W, Zhang, H, Ushiro Lumb, I, Oliver, T, Bibby, D, Mitchell, S, Mbisa, T, Wildfire, A, Tandy, R, Shepherd, J, Maclean, A, Bennett, D, Hopkins, M, Garcia Diaz, A, Kirk, S, Sloot, P. M., Virology, Prosperi, M, Mackie, N, di Giambenedetto, S, Zazzi, M, Camacho, R, Fanti, I, Torti, C, Sönnerborg, A, Kaiser, R, Codoñer, F, van laethem, K, Bansi, L, van de Vijver, D, Geretti, A, de luca, A, and Mancuso, S
Subjects: Male, Drug Resistance, HIV Infections, Drug resistance, Cohort Studies, 0302 clinical medicine, Genotype, HIV Infection, Pharmacology (medical), 030212 general & internal medicine, Viral, 0303 health sciences, Proteolytic enzymes, Genotypic testing, HIV, Viral load, Adult, Anti-HIV Agents, CD4 Lymphocyte Count, Europe, Female, HIV-1, Humans, RNA, Viral, Viral Proteins, Drug Resistance, Viral, Mutation, Missense, Viral Load, Pharmacology, Infectious Diseases, 3. Good health, Cohort, Cohort study, Human, Microbiology (medical), Biology, Settore MED/17 - MALATTIE INFETTIVE, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Viral Protein, 030306 microbiology, Anti-HIV Agent, Virology, Reverse transcriptase, Regimen, genotypic testing, viral load, Immunology, Mutation, RNA, Missense, Cohort Studie
Abstract: Background and objectives: Guidelines indicate a plasma HIV-1 RNA load of 500-1000 copies/mL as the minimal threshold for antiretroviral drug resistance testing. Resistance testing at lower viral load levels may be useful to guide timely treatment switches, although data on the clinical utility of this remain limited. We report here the influence of viral load levels on the probability of detecting drug resistance mutations (DRMs) and other mutations by routine genotypic testing in a large multicentre European cohort, with a focus on tests performed at a viral load
Published: 2011

11. HIV-1 transmission through breast-milk

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

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

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

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

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

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

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

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

Author: Justiz-Vaillant, Angel, Gopaul, Darren, Soodeen, Sachin, Unakal, Chandrashekhar, Thompson, Reinand, Pooransingh, Shalini, Arozarena-Fundora, Rodolfo, Asin-Milan, Odalis, and Akpaka, Patrick Eberechi
Subjects: SEVERE combined immunodeficiency, BACTERIAL proteins, CLINICAL immunology, SYSTEMIC lupus erythematosus, MEDICAL research
Abstract: Immunology and microbiology research has witnessed remarkable growth and innovation globally, playing a pivotal role in advancing our understanding of immune mechanisms, disease pathogenesis, and therapeutic interventions. This manuscript presents a comprehensive exploration of the key areas in immunology research, spanning from the utilisation of bacterial proteins as antibody reagents to the intricate realms of clinical immunology and disease management. The utilisation of bacterial immunoglobulin-binding proteins (IBPs), including protein A (SpA), protein G (SpG), and protein L (SpL), has revolutionised serological diagnostics, showing promise in early disease detection and precision medicine. Microbiological studies have shed light on antimicrobial resistance patterns, particularly the emergence of extended-spectrum beta-lactamases (ESBLs), guiding antimicrobial stewardship programmes and informing therapeutic strategies. Clinical immunology research has elucidated the molecular pathways underlying immune-mediated disorders, resulting in tailored management strategies for conditions such as severe combined immunodeficiency (SCID), neuropsychiatric systemic lupus erythematosus (NPSLE), etc. Additionally, significant efforts in vaccine development against tuberculosis and HIV are highlighted, underscoring the ongoing global pursuit of effective preventive measures against these infectious diseases. In summary, immunology and microbiology research have provided significant contributions to global healthcare, fostering collaboration, innovation, and improved patient outcomes. [ABSTRACT FROM AUTHOR]
Published: 2024
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17. A prospective cohort study to identify clinical diagnostic and prognostic markers of primary immune thrombocytopenia in dogs.

Author: Brooks, Marjory B., Goggs, Robert, Frye, Amelia H., Armato, Jessica, Forman, Marnin, Hertl, Julia, Koch, Michael, Loftus, John P., Lucy, John, Mattison, Brandi, Merriam, Julia, Shropshire, Sarah, Van Vertloo, Laura, Viall, Austin, and LeVine, Dana N.
Subjects: IDIOPATHIC thrombocytopenic purpura, PROGNOSIS, BIOMARKERS, PLATELET count, DOG owners, DOGS
Abstract: Background: Primary immune thrombocytopenia (pITP) in dogs presents a diagnostic challenge, and clinical markers of severity are lacking. Objectives: Identify clinicopathologic features that differentiate pITP from secondary ITP (sITP) and markers related to bleeding severity, transfusion, and survival of dogs with pITP. Animals: Ninety‐eight thrombocytopenic dogs (58 pITP and 40 sITP). Methods: Client‐owned dogs with platelet counts <50 000/μL were enrolled in a prospective, multi‐institution cohort study. History and treatment information, through a maximum of 7 days, was recorded on standard data forms. Bleeding severity was scored daily using a bleeding assessment tool (DOGiBAT). At‐admission blood samples were collected for CBC, biochemistry, C‐reactive protein concentration, and coagulation panels, and to measure platelet surface‐associated immunoglobulin G (PSAIg) and expression of platelet membrane proteins and phospholipids. Dogs with evidence of coincident disease were classified as sITP. Results: No definitive pITP diagnostic test was found. However, pITP cases were characterized by lower platelet counts, D dimer concentrations, and platelet membrane protein expression than sITP cases. Differentiation between pITP and sITP was further enhanced using logistic regression modeling combining patient sex, coagulation profile, platelet count, D dimer, and PSAIg. A second model of pITP severity indicated that low hematocrit and high BUN concentration were associated with non‐survival. Low hematocrit at admission, but not platelet count or DOGiBAT score, was associated with transfusion. Conclusions and Clinical Importance: Pending validation studies, models constructed from at‐admission clinicopathologic findings may improve differentiation of pITP from sITP and identify the most severe pITP cases at the time of presentation. [ABSTRACT FROM AUTHOR]
Published: 2024
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18. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

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

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

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

20. Immune thrombocytopenia (ITP): Pathophysiology update and diagnostic dilemmas.

Author: LeVine, Dana N. and Brooks, Marjory B.
Subjects: IDIOPATHIC thrombocytopenic purpura, PATHOLOGICAL physiology, BONE marrow, PROGNOSTIC tests, DILEMMA, PLATELET count
Abstract: Immune thrombocytopenia (ITP) is a common autoimmune bleeding disorder. The understanding of ITP pathogenesis is rapidly evolving. We now recognize ITP as a complex and heterogeneous syndrome that results from a combination of humoral and cell‐mediated attacks on platelets peripherally and megakaryocytes in the bone marrow. Autoantibody‐mediated ITP also varies in the pathway used to clear platelets, which depends on the platelet glycoprotein being targeted. Moreover, ITP patients present with variable bleeding severities and treatment responses that do not closely correlate with platelet count. A gold standard diagnostic test for ITP is lacking, and biomarkers to assess disease severity are in their infancy. This review provides an update on the immunopathogenesis of ITP and summarizes currently available tests for ITP diagnosis, prediction of disease severity, and treatment responses. Given the heterogeneous pathogenesis and clinical presentation of ITP, we highlight the need for the development of diagnostic and prognostic tests that would allow for the individualized management of a complex disease. [ABSTRACT FROM AUTHOR]
Published: 2019
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21. Abstracts TPS.

Subjects: AUTOIMMUNE diseases, IMMUNOLOGY
Abstract: B Background: b The aim of this study was to investigate the serum lipid metabolomic differences between patients with allergic asthma and healthy controls, and analysis of changes in serum arachidonic acid metabolism in allergic asthma patients with conventional drug therapy and specific immunotherapy respectively. Among those, there were 54 (4.5%) children without physician-diagnosed asthma at enrollment, but with physician-diagnosed asthma at follow-up, defined as incidence of physician-diagnosed asthma; 113 (9.3%) children with physician-diagnosed asthma at both enrollment and follow-up, defined as persistence of physician-diagnosed asthma; and 165 (13.6%) children with physician-diagnosed asthma at enrollment, but without physician-diagnosed asthma at follow-up, defined as remission of physician-diagnosed asthma. 31 patients suffered from allergic asthma and 13 patients from non-allergic asthma. The inflammatory process is increased among non-allergic asthma patients in comparison to allergic asthma patients. [Extracted from the article]
Published: 2019
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22. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Author: Emilia Cirillo, Agata Polizzi, Annarosa Soresina, Rosaria Prencipe, Giuliana Giardino, Caterina Cancrini, Andrea Finocchi, Beatrice Rivalta, Rosa M. Dellepiane, Lucia A. Baselli, Davide Montin, Antonino Trizzino, Rita Consolini, Chiara Azzari, Silvia Ricci, Lorenzo Lodi, Isabella Quinti, Cinzia Milito, Lucia Leonardi, Marzia Duse, Maria Carrabba, Giovanna Fabio, Patrizia Bertolini, Paola Coccia, Irene D’Alba, Andrea Pession, Francesca Conti, Marco Zecca, Claudio Lunardi, Manuela Lo Bianco, Santiago Presti, Laura Sciuto, Roberto Micheli, Dario Bruzzese, Vassilios Lougaris, Raffaele Badolato, Alessandro Plebani, Luciana Chessa, Claudio Pignata, Cirillo, E., Polizzi, A., Soresina, A., Prencipe, R., Giardino, G., Cancrini, C., Finocchi, A., Rivalta, B., Dellepiane, R. M., Baselli, L. A., Montin, D., Trizzino, A., Consolini, R., Azzari, C., Ricci, S., Lodi, L., Quinti, I., Milito, C., Leonardi, L., Duse, M., Carrabba, M., Fabio, G., Bertolini, P., Coccia, P., D'Alba, I., Pession, A., Conti, F., Zecca, M., Lunardi, C., Bianco, M. L., Presti, S., Sciuto, L., Micheli, R., Bruzzese, D., Lougaris, V., Badolato, R., Plebani, A., Chessa, L., and Pignata, C.
Subjects: B lymphocyte, T-Lymphocytes, genotype, Immunology, T lymphocytes, Ataxia Telangiectasia Mutated Proteins, lymphopenia, primary immunodeficiency, Settore MED/02, Mutation, Humans, Ataxia telangiectasia, B lymphocytes, Immunology and Allergy, Retrospective Studies
Abstract: Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological profile over time, the clinical immune-related manifestations at diagnosis and during follow-up, and to attempt a genotype–phenotype correlation of an Italian cohort of AT patients. Retrospective data of 69 AT patients diagnosed between December 1984 and November 2019 were collected from the database of the Italian Primary Immunodeficiency Network. Patients were classified at diagnosis as lymphopenic (Group A) or non-lymphopenic (Group B). Fifty eight out of 69 AT patients (84%) were genetically characterized and distinguished according to the type of mutations in truncating/truncating (TT; 27 patients), non-truncating (NT)/T (28 patients), and NT/NT (5 patients). In 3 patients, only one mutation was detected. Data on age at onset and at diagnosis, cellular and humoral compartment at diagnosis and follow-up, infectious diseases, signs of immune dysregulation, cancer, and survival were analyzed and compared to the genotype. Lymphopenia at diagnosis was related per se to earlier age at onset. Progressive reduction of cellular compartment occurred during the follow-up with a gradual reduction of T and B cell number. Most patients of Group A carried bi-allelic truncating mutations, had a more severe B cell lymphopenia, and a reduced life expectancy. A trend to higher frequency of interstitial lung disease, immune dysregulation, and malignancy was noted in Group B patients. Lymphopenia at the onset and the T/T genotype are associated with a worst clinical course. Several mechanisms may underlie the premature and progressive immune decline in AT subjects.
Published: 2022

23. AB0579 EVALUATION OF PATIENTS WITH PEDIATRIC BEHÇET’S DISEASE: A TERTIARY CENTER EXPERIENCE

Author: Z. Karali, Ş. Çekiç, I. Çakir, and S. S. Kilic
Subjects: Rheumatology, Immunology, Immunology and Allergy, General Biochemistry, Genetics and Molecular Biology
Abstract: BackgroundBehçet’s disease (BD) is an systemic inflammatory vasculitis characterized by recurrent oral aphthae and genital ulcers. In the course of the disease, skin, eye, musculoskeletal, nervous system and gastrointestinal system involvements can be detected.ObjectivesTo evaluate the clinical, laboratory and radiological findings of pediatric cases diagnosed with BD.MethodsFifty patients (0-20 years old) who were followed up with the diagnosis of BD at the Pediatric Rheumatology outpatient clinic of Uludag University Faculty of Medicine between January 2011 and July 2021 were included in our study. The patients were diagnosed according to the diagnostic criteria of the International BD Study Group.ResultsTwenty-four (48%) of the patients were male and 26 (52%) were female. The mean age at the diagnosis of patients was 9 ±4.55 years (10.75±4.55 years in boys, 12.35±3.65 years in girls). Twenty patients (36.3%) had a family history of Behçet’s Disease. Oral aphthae were present in 96% (n=48) patients, while genital ulcers were in 32% (n=16) (Table 1). Of the nine patients with uveitis, 6 had panuveitis, 2 had anterior uveitis and 1 had posterior uveitis. . There was no difference in the distribution of symptoms according to the gender of the patients. HLA-B51 allel was found in 39 (78%) and ANA was positive in 14 patients (28%). Immunological tests showed that serum immunoglobulins were low in 11 (32.3%) of 34 patients.Low IgG levels were detected in 6 patients, low IgM levels were in 3, and low IgA levels were in 2. Thrombus was presented in three cases (thrombus in the right ventricle in one case, in the intracranial transverse sigmoid sinus and left jugular vein in two cases). The most commonly used drug for aphthae was colchicine (n=45, 82%). The use of biological agents according to patient manifestations is shown in Table 2. In the follow-up, clinical findings improved in 35 patients (70%)Complete improvement was detected only with biological agents in 8 patients with uveitis. One patient was operated due to the development of complicated cataracts secondary to uveitis. Three patients were diagnosed with Covid-19, one of them was followed without treatment, while two of them were treated with favipiravir at home. Three patients with Covid-19 infection were using only colchicine treatment.Table 1.Findings at the time of diagnosisn%Uveitis918Skin findings1836Gastrointestinal tract involvement1938Central nervous system involvement612Vascular involvement36Arthritis1734Table 2.Findings Biological AgentsUveitis (n)Arthritis (n)Venous thrombus (n)Central nervous system involvement (n)Azathioprine2231Methotrexate22--Adalimumab31--Infliximab31--ConclusionBehçet’s disease is rare in childhood. Although it is not common, life-threatening complications can be observed. To reduce morbidity and complications, physicians should be aware of manifestations and rare clinical pictures of the BD.References[1]Hu YC, Chiang BL, Yang YH. Clinical Manifestations and Management of Pediatric Behçet’s Disease. Clin Rev Allergy Immunol. 2021 Oct;61(2):171-180.[2]Costagliola G, Cappelli S, Consolini R. Behçet’s Disease in Children: Diagnostic and Management Challenges. Ther Clin Risk Manag. 2020 Jun 11;16:495-507.[3]Balt J, Jamyanjav B, Jav S, Dandii Z, Ganbold C, Horie Y, Lennikov A, Uehara O, Ohno S, Kitaichi N. Clinical features of Behcet’s disease in Mongolia: a multicenter study. Clin Rheumatol. 2020 Sep;39(9):2697-2706.[4]Muruganandam M, Rolle NA, Sibbitt WL Jr, Cook GB, Emil NS, Fangtham M, Reiter KJ, Bankhurst AD. Characteristics of Behcet’s Disease in the American Southwest. Semin Arthritis Rheum. 2019 Oct;49(2):296-302.Disclosure of InterestsNone declared
Published: 2022
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24. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

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

25. Identification of Genes Responsive to Solar Simulated UV Radiation in Human Monocyte-Derived Dendritic Cells.

Author: de la Fuente, Hortensia, Lamana, Amalia, Mittelbrunn, María, Perez-Gala, Silvia, Gonzalez, Salvador, García-Diez, Amaro, Vega, Miguel, and Sanchez-Madrid, Francisco
Subjects: ULTRAVIOLET radiation, HEREDITY, GENES, LYMPHOID tissue, IMMUNOLOGY, ANTIGEN presenting cells, DENDRITIC cells, IMMUNOREGULATION, TYROSINE, KERATINOCYTES
Abstract: Ultraviolet (UV) irradiation has profound effects on the skin and the systemic immune system. Several effects of UV radiation on Dendritic cells (DCs) functions have been described. However, gene expression changes induced by UV radiation in DCs have not been addressed before. In this report, we irradiated human monocyte-derived DCs with solar-simulated UVA/UVB and analyzed regulated genes on human whole genome arrays. Results were validated by RT-PCR and further analyzed by Gene Set Enrichment Analysis (GSEA). Solar-simulated UV radiation up-regulated expression of genes involved in cellular stress and inflammation, and down-regulated genes involved in chemotaxis, vesicular transport and RNA processing. Twenty four genes were selected for comparison by RT-PCR with similarly treated human primary keratinocytes and human melanocytes. Several genes involved in the regulation of the immune response were differentially regulated in UVA/UVB irradiated human monocyte-derived DCs, such as protein tyrosine phosphatase, receptor type E (PTPRE), thrombospondin-1 (THBS1), inducible costimulator ligand (ICOSL), galectins, Src-like adapter protein (SLA), IL-10 and CCR7. These results indicate that UV-exposure triggers the regulation of a complex gene repertoire involved in human-DC-mediated immune responses. [ABSTRACT FROM AUTHOR]
Published: 2009
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26. Author Index — Volume 61.

Subjects: AUTHORS, PERIODICAL indexes, IMMUNOLOGY, PERIODICALS
Abstract: Presents the author index published to the June 2005 issue of the "Scandinavian Journal of Immunology."
Published: 2005
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27. 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

28. Knowledge Discovery from Medical Data and Development of an Expert System in Immunology.

Author: Pac, Małgorzata, Mikutskaya, Irina, and Mulawka, Jan
Subjects: ARTIFICIAL intelligence, SYSTEMS development, COMPUTER science, DATA mining, EXPERT systems, DECISION trees
Abstract: Artificial intelligence is one of the fastest-developing areas of science that covers a remarkably wide range of problems to be solved. It has found practical application in many areas of human activity, also in medicine. One of the directions of cooperation between computer science and medicine is to assist in diagnosing and proposing treatment methods with the use of IT tools. This study is the result of collaboration with the Children's Memorial Health Institute in Warsaw, from where a database containing information about patients suffering from Bruton's disease was made available. This is a rare disorder, difficult to detect in the first months of life. It is estimated that one in 70,000 to 90,000 children will develop Bruton's disease. But even these few cases need detailed attention from doctors. Based on the data contained in the database, data mining was performed. During this process, knowledge was discovered that was presented in a way that is understandable to the user, in the form of decision trees. The best models obtained were used for the implementation of expert systems. Based on the data introduced by the user, the system conducts expertise and determines the severity of the course of the disease or the severity of the mutation. The CLIPS language was used for developing the expert system. Then, using this language, software was developed producing six expert systems. In the next step, experimental verification was performed, which confirmed the correctness of the developed systems. [ABSTRACT FROM AUTHOR]
Published: 2021
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29. Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

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

30. The size of the thymus: an important immunological diagnostic tool?

Author: Jeppesen, D.L.
Subjects: IMMUNODIAGNOSIS, THYMUS, ULTRASONIC imaging, INFANT care
Abstract: The report on the influence of seasonal factors on thymic size in early life describes a pattern of ultrasonographically measured thymic growth in Gambian infants including the finding of a smaller thymus in the hungry season. These factors raise a number of important questions: Is the size of the thymus relevant to its function and could measurement of the thymus be a useful immunological diagnostic tool in the investigation of thymic function in humans with a depressed immune system? Conclusion: Studies using the size of the thymus as an immunological diagnostic tool should be encouraged. [ABSTRACT FROM AUTHOR]
Published: 2003
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31. Differentiating PFAPA Syndrome From Monogenic Periodic Fevers

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

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

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

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

34. Encyclopedia of Medical Immunology : Immunodeficiency Diseases

Author: Ian R. MacKay, Noel R. Rose, Jordan Scott Orange, Javier Chinen, Ian R. MacKay, Noel R. Rose, Jordan Scott Orange, and Javier Chinen
Subjects: Public health, Immunology, Immunologic diseases, Immunodeficiency, Vaccines, Immunoglobulins, Medical microbiology
Abstract: Volume Immunodeficiency Diseases in Springer's gold-standard reference work on medical immunology focuses on infectious diseases. In tandem with its three counterpart volumes it offers the most wide-ranging and authoritative repository of knowledge on infectious diseases, with readily accessed contributions by the world's leading authorities on the subject. The encyclopedia covers the material from all angles, with more than 1000 pages of essays on the genetics, physiology, metabolism, pathogenesis and applied microbiology of all known infectious diseases, and includes access to an e-reference work that will include ongoing updates reflecting the latest advances in the field.An outstanding new resource of immense value to a wide range of medical researchers and practitioners, the encyclopedia features a user-friendly subdivision of diseases according to their affective locus in the human body. The sections cover integumentary, skeletal, respiratory, digestive, urinary, and reproductive transmissible pathogens. This high-profile encyclopedia will be an essential addition to academic libraries worldwide.
Published: 2020

35. Tumor Microenvironment

Author: Peter P. Lee, Francesco M. Marincola, Peter P. Lee, and Francesco M. Marincola
Subjects: Oncology, Immunology
Abstract: This book addresses the biological processes relevant to the immune phenotypes of cancer and their significance for immune responsiveness, based on the premise that malignant cells manipulate their surroundings through an evolutionary process that is controlled by interactions with innate immune sensors as well as the adaptive recognition of self/non-self. Checkpoint inhibitor therapy is now an accepted new form of cancer treatment. Other immuno-oncology approaches, such as adoptive cell therapy and metabolic inhibitors, have also shown promising results for specific indications. Immune resistance is common, however, limiting the efficacy of immunotherapy in many common cancer types. The reasons for such resistance are diverse and peculiar to the immune landscapes of individual cancers, and to the treatment modality used. Accordingly, approaches to circumvent resistance need to take into account context-specific genetic, biological and environmental factors that may affect the cancer immune cycle, and which can best be understood by studying the target tissue and correlated systemic immune markers. Understanding the major requirements for the evolutionary process governing human cancer growth in the immune-competent host will guide effective therapeutic choices that are tailored to the biology of individual cancers.
Published: 2020

36. Principles of Cancer Biotherapy

Author: Robert K. Oldham, Robert O. Dillman, Robert K. Oldham, and Robert O. Dillman
Subjects: Oncology, Immunology, Biochemistry, Radiology, Bioethics
Abstract: At the time of the first edition of Principles of Cancer Biotherapy in 1987, this book represented the first comprehensive textbook on biological therapy. In 1991, when the second edition was published, there was still some doubt on the part of many oncologists and cancer researchers as to the therapeutic value of these new approaches. By 2003 and the fourth edition, it was generally agreed that biopharmaceuticals were producing major opportunities for new cancer therapies. Cancer biotherapy has now truly matured into the fourth modality of cancer treatment. This fifth revised edition describes the tremendous progress that has been made in recent years using biologicals in cancer treatment. This book summarizes an evolving science and a rapidly changing medical practice in biotherapy. In this new millennium, it is now possible to envision a much more diversified system of cancer research and treatment that will afford greater opportunities for a patient's personalized cancer treatment. This was first envisioned in the 1987 initial edition of this textbook and is now a'new'and popular approach to cancer treatment. Some forms of cancer biotherapy use the strategy of tumor stabilization and control though continued biological therapy, akin to the use of insulin in the treatment of diabetes. This textbook illustrates new methods of thinking and new strategies for control of cancer. It is always difficult to move from past dogma to future opportunity, but this fifth edition of Principles of Cancer Biotherapy illustrates why it is so important to the patients for researchers and clinicians to explore and quickly apply these new opportunities in cancer biotherapy.
Published: 2019

37. Humoral Primary Immunodeficiencies

Author: Mario Milco D'Elios, Marta Rizzi, Mario Milco D'Elios, and Marta Rizzi
Subjects: Rheumatology, Immunology, Diseases, Oncology
Abstract: This book presents detailed state of the art knowledge on the humoral primary immunodeficiencies (PIDs), i.e., disorders arising from impaired antibody production due to defects intrinsic to B cells or defective interaction between B and T cells. There is extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured in accordance with the most recent classification of PIDs and also covers updates on the B cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel humoral PID genes and related clinical applications, mucosal B cells, and the various clinical phenotypes of humoral PIDs. Aspects such as differential diagnosis, clinical management in children and adults, and the role of vaccines are also addressed. The authors are all recognized experts from Europe, Australia, and the United States. Humoral Primary Immunodeficiencies will be of high value for immunologists, pediatricians,rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD and PhD students.
Published: 2018

38. Blood Cell Biochemistry Volume 3 : Lymphocytes and Granulocytes

Author: J. Robin Harris and J. Robin Harris
Subjects: Oncology, Hematology, Immunology, Biochemistry, Medical genetics
Published: 2013

39. Experimental Hematology Today—1985 : Selected Papers From the 14th Annual Meeting of the International Society for Experimental Hematology, July 14–18, 1985, Jerusalem, Israel

Author: S.J. Baum, D.H. Pluznik, L.A. Rosenszajn, Ramat-Gan, S.J. Baum, D.H. Pluznik, L.A. Rosenszajn, and Ramat-Gan
Subjects: Hematology, Allergy, Immunology
Published: 2012

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