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1. First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis

Author

Santoro, L., Monachesi, C., Zampini, L., Padella, L., Galeazzi, T., Santori, E., Cordiali, R., Dardis, A., Catassi, C., Boccieri, E., Galaverna, F., Locatelli, Franco, Locatelli F. (ORCID:0000-0002-7976-3654), Santoro, L., Monachesi, C., Zampini, L., Padella, L., Galeazzi, T., Santori, E., Cordiali, R., Dardis, A., Catassi, C., Boccieri, E., Galaverna, F., Locatelli, Franco, and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

We describe the first case of bridge therapy in alpha-mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre- and peri-transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post-HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl-oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC–MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms.

Published
2023

4. 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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5. Antiretroviral use in Italian children with perinatal HIV infection over a 14-year period

Author

Chiappini E, Galli L, Tovo PA, Gabiano C, Lisi C, Giacomet V, Bernardi S, Esposito S, Rosso R, Giaquinto C, Badolato R, GUARINO, ALFREDO, Maccabruni A, Masi M, Cellini M, Salvini F, Di Bari C, Dedoni M, Dodi I, de Martino M, Osimani P, Cordiali R., Larovere D, De Serio G, Giannini AM, Quercia M., Ruggeri M., Miniaci A, Specchia F, Ciccia M, Faldella G, Baldi F, Lanari M. Ciccia M, Bertulli C, Sorlini A, Ricci F, Dessy C, Pintor M, Fenu ML, Cavallini R, Aliffi A, Anastasio E, Aloe M., Abbagnato L., Merlino S, Fiumana E, Burnelli R, Bonsignori F, Gervaso P, Sollai S., Viscoli C, Cosso D, Timitilli A, Amoretti M., Vigano` A, Zuccotti GV, Mameli C, Fabiano V, Coletto S, Nello F, Riva E, Bettiga C, Picciolli, Irene, Preti Valentina, Tagliaferri Laura, Lipreri R, Mancini L., Mariotti I, Manzotti E, Giubbarelli F., GIANNATTASIO, ANTONIETTA, LO VECCHIO, ANDREA, BRUZZESE, EUGENIA, Tarallo L, Buffolano W., Pennazzato M, Rampon O., Dalle Nogare ER, Sanfilippo A, Romano A, Saitta M, Bandello MA, Tchana I, Maccabruni A., Felici L., Verrotti M., Consolini R, Palla G, Magnani C., Palma P, Pontrelli G, Tchidjou K. H, Genovese O, Falconieri P, Casadei M, Valentini P, Casadei, Martino, Anzidei, Cerilli, Catania Ajissa, Castelli Gattinara G., Cristiano R, Labalestra G, Portelli V., Mazza A, Chiarello P, Garazzino S, Mignone F, Calitri C., Rabusin M, Verzegnassi F., Pellegatta A., Boscardini L, Fortunati P, Da Riol R., Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Giacomet, V, Bernardi, S, Esposito, S, Rosso, R, Giaquinto, C, Badolato, R, Guarino, Alfredo, Maccabruni, A, Masi, M, Cellini, M, Salvini, F, Di Bari, C, Dedoni, M, Dodi, I, de Martino, M, Osimani, P, Cordiali, R., Larovere, D, De Serio, G, Giannini, Am, Quercia, M., Ruggeri, M., Miniaci, A, Specchia, F, Ciccia, M, Faldella, G, Baldi, F, Lanari M., Ciccia M, Bertulli, C, Sorlini, A, Ricci, F, Dessy, C, Pintor, M, Fenu, Ml, Cavallini, R, Aliffi, A, Anastasio, E, Aloe, M., Abbagnato, L., Merlino, S, Fiumana, E, Burnelli, R, Bonsignori, F, Gervaso, P, Sollai, S., Viscoli, C, Cosso, D, Timitilli, A, Amoretti, M., Vigano`, A, Zuccotti, Gv, Mameli, C, Fabiano, V, Coletto, S, Nello, F, Riva, E, Bettiga, C, Picciolli, Irene, Preti, Valentina, Tagliaferri, Laura, Lipreri, R, Mancini, L., Mariotti, I, Manzotti, E, Giubbarelli, F., Giannattasio, Antonietta, LO VECCHIO, Andrea, Bruzzese, Eugenia, Tarallo, L, Buffolano, W., Pennazzato, M, Rampon, O., Dalle Nogare, Er, Sanfilippo, A, Romano, A, Saitta, M, Bandello, Ma, Tchana, I, Maccabruni, A., Felici, L., Verrotti, M., Consolini, R, Palla, G, Magnani, C., Palma, P, Pontrelli, G, Tchidjou, K. H., Genovese, O, Falconieri, P, Casadei, M, Valentini, P, Casadei, Martino, Anzidei, Cerilli, Catania, Ajissa, Castelli Gattinara, G., Cristiano, R, Labalestra, G, Portelli, V., Mazza, A, Chiarello, P, Garazzino, S, Mignone, F, Calitri, C., Rabusin, M, Verzegnassi, F., Pellegatta, A., Boscardini, L, Fortunati, P, and Da Riol, R.

Abstract

BACKGROUND: Information on the use of new antiretroviral drugs in children in the real setting of clinical fields is largely unknown. METHODS: Data from 2554 combined antiretroviral therapy (cART) regimens administered to 911 children enrolled in the Italian Register for HIV infection in children, between 1996 and 2009, were analysed. Factors potentially associated with undetectable viral load and immunological response to cART were explored by Cox regression analysis. RESULTS: Proportion of protease inhibitor (PI)-based regimens significantly decreased from 88.0% to 51.2% and 54.9%, while proportion on non-nucleoside reverse transcriptase inhibitor (NNRTI)-based regimens increased from 4.5% to 38.8% and 40.2% in 1996-1999, 2000-2004 and 2005-2009, respectively (p < 0.0001). Significant change in the use of each antiretroviral drug occurred over the time periods (p < 0.0001). Factors independently associated with virological and immunological success were as follows: later calendar periods, younger age at regimen (only for virological success) and higher CD4(+) T-lymphocyte percentage at baseline. Use of unboosted PI was associated with lower adjusted hazard ratio (aHR) of virological or immunological success with respect to NNRTI- and boosted PI-based regimens, with no difference among these two latter types. CONCLUSION: Use of new generation antiretroviral drugs in Italian HIV-infected children is increasing. No different viro-immunological outcomes between NNRTI- and boosted PI-based cART were observed

Published
2012

6. Case 1: An infant with water intoxication

Author

Baldoni, I, Cordiali, R, Jorini, M, Maghnie, Mohamad, and DE BENEDICTIS FM

Subjects
Diagnosis, Differential, Seizures, Water Intoxication, Humans, Infant, Family, Female, Psychophysiologic Disorders
Published
2007

7. Changing patterns of clinical events in perinatally HIV-1-infected children during the era of HAART. The Italian Register for HIV Infection in Children

Author

WRITING COMMITTEE CHIAPPINI, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Gattinara, Gc, Esposito, S, Viganò, A, Giaquinto, C, Rosso, R, Guarino, A, Osimani, DE MARTINO M. MEMBERS OF THE ITALIAN REGISTER FOR HIV INFECTION IN CHILDREN 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., Schumacher, R., Duse, M., Sinelli, M., Bennato, V., Dessì, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Zicchinella, D., Sticca, M., Pomero, G., Contiero, R., Fiumana, E., Gervaso, P., Gabrielli, G., Braccesi, G., Becherucci, S., DE GAUDIO, M., Innocenti, L., Cecchi, M. T., Ginocchio, F., Nicolini, L. A., Ciravegna, B. W., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Bojanin, J., Porta, A., Principi, N., Giacomet, V., Bianchi, R., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., MORETTI MILANO, C., Cellini, M., Cano, M. C., Palazzi, G., Bruzzese, E., Giannattazio, A., Tarallo, L., Tancredi, F., D'Elia, R., Rampon, O., DALLE NOGARE, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Consolini, Rita, Legitimo, Annalisa, Magnani, C., Falconieri, P., Fundarò, C., Salvucci, P. VALENTINI S., Casadei, A. M., Bernardi, S., Palma, P., Anzidei, M., Cerilli, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Gentilini, L., Mignone, F., Versace, A., Antonielli, E., Sovatzis, S., Scolfaro, C., Palomba, E., Portelli, V., Rabusin, M., Pellegatta, A., and Fortunati, P.

Published
2007

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

Author

Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Giaquinto, C, Rampon, O, Gattinara, Gc, De Marco, G, Osimani, P, Manzionna, M, Miniaci, A, Pintor, C, Rosso, R, Esposito, S, Viganò, A, Dodi, I, Maccabruni, A, Fundarò, C, de Martino, M, Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini, Elena, Galli, Luisa, Tovo, Pier-Angelo, Gabiano, Clara, Lisi, Catiuscia, Giaquinto, Carlo, Rampon, Osvalda, Gattinara, Guido Castelli, De Marco, Giulio, Osimani, Patrizia, Manzionna, Mariano, Miniaci, Angela, Pintor, Carlo, Rosso, Raffaella, Esposito, Susanna, Viganò, Alessandra, Dodi, Icilio, Maccabruni, Anna, Fundarò, Carlo, De Martino, Maurizio, Italian Register for HIV Infection in, Children, and Lanari, M.

Subjects
Registrie, Pediatrics, Cancer Research, Time Factors, HIV Infections, Antiretroviral Therapy, Highly Active, Neoplasms, HIV Infection, Registries, Sida, Child, biology, Incidence (epidemiology), Medicine (all), Incidence, Child, Preschool, Disease Progression, Humans, Infant, Infant, Newborn, Italy, Treatment Outcome, Oncology, symbols, Population study, Viral disease, Human, medicine.medical_specialty, cancer rates, HIV infection, children, Time Factor, Antiretroviral Therapy, symbols.namesake, Acquired immunodeficiency syndrome (AIDS), medicine, cancer, Highly Active, Poisson regression, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, Perinatal HIV infection, business.industry, Cancer, Newborn, medicine.disease, biology.organism_classification, Italian Register for HIV infection in children, El Niño, Neoplasm, business
Abstract

Purpose To evaluate the impact of highly active antiretroviral therapy (HAART) on cancer incidence in HIV-infected children throughout a 20-year period. Patients and Methods An observational population study was conducted on 1,190 perinatally HIV-infected children enrolled onto the Italian Register for HIV Infection in Children from 1985 to 2004 and never lost to follow-up (total observation time, 10,037.66 years). Cancer rates were calculated in the pre-HAART (1985 to 1995), early HAART (1996 to 1999), and late HAART (2000 to 2004) periods and compared using Poisson regression adjusted for age. The proportion of HAART-treated children increased from 4.1% in 1996 to 60.4% in 1999 and to 81.5% in 2004. In the same time frame, the proportion of children receiving HAART for at least 2 years increased from 3.1% to 77.0%. Results Overall, 35 cancers occurred. Cancer rates were 4.49 (95% CI, 2.37 to 6.64), 4.09 (95% CI, 1.68 to 6.50), and 0.76 (95% CI, 0.00 to 1.80) per 1,000 children per year in 1985 to 1995, 1996 to 1999, and 2000 to 2004, respectively. Notably, there was no significant difference comparing the periods from 1985 to 1995 and 1996 to 1999 (P = .081). By contrast, cancer rates were significantly lower in the period from 2000 to 2004 than in 1996 to 1999 (P < .0001). Results were confirmed by separately analyzing data from children observed from birth (P = .418 for 1985 to 1995 v 1996 to 1999; P = .001 for 1996 to 1999 v 2000 to 2004). Conclusion Dramatically reduced cancer rates were observed only in the late HAART period in parallel to the increasing proportion of children receiving HAART therapy.

Published
2007

9. 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

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

Author

Chiappini, E, Galli, L, Gabiano, C, Tovo, Pa, de Martino, M, Osimani, P., Cordiali, R., De Mattia, D., Manzionna, M., Di Bari, C., Ruggeri, M., Masi, M., Miniaci, A., Specchia, F., Ciccia, M., Lanari, M., Baldi, F., Battisti, L., Fiorino, C., Dessı`, C., Pintor, C., Dedoni, M., Fenu, M. L., Cavallini, R., Anastasio, E., Merolla, F., Sticca, M., Pomero, G., Bezzi, Teresa Maria, Fiumana, Elisa, Bonsignori, F., Gervaso, P., Seini, E., Cecchi, M. T., Cosso, D., Timitilli, A., Stronati, M., Plebani, A., Pinzani, R., Bongianin, I., Vigano`, A., Giacomet, V., Erba, P., Salvini, F., Zuccotti, G. V., Giovannini, M., Ferraris, G., Lipreri, R., Moretti, C., Cellini, M., Cano, M. C., Paolucci, P., Bruzzese, E., De Marco, G., Tarallo, L., Tancredi, F., Pennazzato, M., Rampon, O., Dalle Nogare, E. R., Sanfilippo, A., Romano, A., Saitta, M., Dodi, I., Barone, A., Maccabruni, A., Consolini, R., Legitimo, A., Magnani, C., Falconieri, P., Fundaro`, C., Genovese, O., Panzanella, A., Casadei, A. M., Martino, A., Concato, C., Anzidei, G., Bove, G., Cerilli, S., Catania, S., Ajassa, C., Ganau, A., Cristiano, L., Mazza, A., Di Palma, A., Mignone, F., Riva, C., Scorfaro, C., Portelli, V., Rabusin, M., Pellegatta, A., Molesini, M., Chiappini E., Galli L., Gabiano C., Tovo P A., De Martino M., for the Italian Register for HIV Infection in Children: [.., Osimani P., Specchia F., Molesini M., and ]

Subjects
Perinatal HIV infection, Pediatrics, medicine.medical_specialty, HIV INFECTIONS, business.industry, Therapy, General Medicine, Virology, Perinatal hiv, medicine, INFANT, Dual therapy, business, MATERNAL-FETAL RELATIONS, DISEASE TRANSMISSION, ANTIHIV AGENTS
Abstract

The time at which antiretroviral therapy (ART) should be initiated in children with perinatal human immunodeficiencyvirus (HIV) infection remains controversial. In a cohort study, Berk et al1 reported clinical benefit from mono/dual ART started before 60 days of life in 10 children compared with treatment administered at 61 to 120 days of life in 16 children. The 23 children who received early triple ART were not investigated because none of them progressed to category C diagnosis by 3 years of age. We performed a similar analysis in a cohort study of a larger data set of children with a longer follow-up to evaluate the outcomes of early and very early triple ART.

Published
2006

11. Lower mother-to-child HIV-1 transmission in boys is independent of type of delivery and antiretroviral prophylaxis. The Italian register for HIV intection in children

Author

Galli, L., Puliti, D., Chiappini, E., Gabiano, C., Tovo, P. A., Pezzotti, P., 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., and Molesini, M.

Subjects
infant's gender, vertical transmission, antiretroviral prophylaxis
Published
2005

12. 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

13. Linear and whorled nevoid hypermelanosis in a 6 year old boy.

Author

Caporelli N., Cordiali R., Ficcadenti A., Postacchini V., Simonetti O., Offidani A., and Morroni M.

Subjects
*HYPERPIGMENTATION, *CHROMOSOME abnormalities, *INFANTS, *SKIN diseases, *KERATINOCYTES
Abstract

A case of linear and whorled nevoid hypermelanosis with multisystem malformations in a 6 year old boy was reported. The Authors discussed the differential diagnosis and the chromosome, pathological and ultramicroscopy alterations of the patient. [ABSTRACT FROM AUTHOR]

Published
2016

17. Bone marrow transplantation in a Hunter patient with P266H mutation

Author

Orazio Gabrielli, R Cordiali, P. Di Natale, Giovanni V. Coppa, Guglielmo R. D. Villani, Coppa, G. V., Gabrielli, O., Cordiali, R., Villani, GUGLIELMO ROSARIO DOMENI, and DI NATALE, P.

Subjects
Male, Mutation, Mutant, Cancer, Hunter syndrome, Iduronate Sulfatase, General Medicine, Disease, Biology, medicine.disease, medicine.disease_cause, Molecular medicine, Immunology, Genetics, medicine, Humans, Transplantation, Homologous, Mucopolysaccharidosis type II, Allele, Child, Alleles, Bone Marrow Transplantation, Mucopolysaccharidosis II
Abstract

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal disease caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS, EC 3.1.6.13). Affected patients show a wide spectrum of clinical phenotypes, from severe to mild. Mutational analysis on this disease resulted in the identification of more than 200 alterations. Bone marrow transplantation (BMT) is considered, at present, an appropriate therapy for MPS II subjects without severe neuropsychological impairment, however molecular analysis in BMT treated patients has been poorly studied. We describe here a patient subjected to BMT in 1995 whose IDS gene alteration, mutation P266H, was identified thereafter. The 4-year follow-up included clinical, biochemical and molecular parameters. DNA analysis showed, after BMT, coexisting host mutant and donor normal alleles, ensuring the effectiveness of the therapy and providing a fast and accurate tool to monitor the colonization of donor cells after treatment.

18. First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis.

Author

Santoro L, Monachesi C, Zampini L, Padella L, Galeazzi T, Santori E, Cordiali R, Dardis A, Catassi C, Boccieri E, Galaverna F, and Locatelli F

Subjects
Infant, Humans, Enzyme Replacement Therapy methods, Chromatography, Liquid, Tandem Mass Spectrometry, alpha-Mannosidosis diagnosis, alpha-Mannosidosis therapy, Hematopoietic Stem Cell Transplantation
Abstract

We describe the first case of bridge therapy in alpha-mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre- and peri-transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post-HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl-oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC-MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms., (© 2023 Wiley Periodicals LLC.)

Published
2023
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19. Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.

Author

Santoro L, Zampini L, Padella L, Monachesi C, Zampieri S, Dardis A, Cordiali R, Galeazzi T, and Catassi C

Abstract

Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible therapeutic option. Only in 2018, the European Medicines Agency's committee approved the recombinant enzyme velmanase alfa for long-term treatment of non-neurological manifestations in mild and moderate forms of alpha-mannosidosis. In this study, the very early biochemical effects of enzyme replacement therapy in in a 7-month-old patient with alpha-mannosidosis were described. Velmanase alpha was administered as supporting therapy awaiting for hematopoietic stem cell transplantation, the treatment chosen for the patient because of the early onset form. The results showed that the enzyme replacement therapy was able to reduce the content of three different mannosyl-oligosaccharides monitored by tandem mass spectrometry after 2 months of treatment. In particular, the mean relative changes from baseline values were -67% in urine and -53% in serum at the latest observation. The study also showed that the enzymatic activity detected in serum 1 week after the first infusion was four times higher than the normal values and constant in the following points of observation. These findings led us to assume that velmanase alfa might be biologically active in this young patient., Competing Interests: L. S., L. Z., L. P., C. M., S. Z., A. D., R. C., T. G., and C. C. declare that they have no conflict of interest., (© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

Published
2020
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20. Peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation: a new syndrome?

Author

Gabrielli O, Carloni I, Cordiali R, Bruschi B, Rocchi E, and Coppa GV

Subjects
Child, Preschool, Cleft Lip diagnosis, Cleft Palate diagnosis, Female, Humans, Intellectual Disability diagnosis, Obesity diagnosis, Cleft Lip genetics, Cleft Palate genetics, Facies, Human Growth Hormone deficiency, Intellectual Disability genetics, Obesity genetics
Abstract

A female child with peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation is described. The present case does not appear to fit any of the known syndromes.

Published
2000
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