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248 results on '"Genovese, Orazio"'

1. Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016

Author

Gardani, Alice, Costantino, Maria Antonella, Bitetti, Ilaria, Franguel, Matteo Tuana, Sframeli, Maria, Magnolato, Andrea, Rausa, Myriam, Pagliaccia, Elena, Negri, Mirea, Del Monaco, Cesare, Berti, Beatrice, Leone, Daniela, Palermo, Concetta, Bertini, Enrico, Longo, Antonella, Dosi, Claudia, Carnicella, Sara, Morando, Simone, Brolatti, Noemi, Vento, Alessandra, Cavallina, Ilaria, Ferrante, Roberta, Bernasconi, Laura, Piastra, Marco, Genovese, Orazio, Forcina, Nicola, Benedetti, Francesca, Damioli, Simona, Fanelli, Lavinia, Stanca, Giulia, Norcia, Giulia, Sacchini, Michele, Ticci, Chiara, Briganti, Elena, Pera, Maria Carmela, Coratti, Giorgia, Pane, Marika, Masson, Riccardo, Sansone, Valeria Ada, D’Amico, Adele, Catteruccia, Michela, Agosto, Caterina, Varone, Antonio, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Bruno, Irene, Procopio, Elena, Pini, Antonella, Siliquini, Sabrina, Zanin, Riccardo, Albamonte, Emilio, Berardinelli, Angela, Mastella, Chiara, Baranello, Giovanni, Previtali, Stefano Carlo, Trabacca, Antonio, Bravetti, Chiara, Gagliardi, Delio, Filosto, Massimiliano, de Sanctis, Roberto, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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2. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, and Mercuri, Eugenio

Published
2023
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3. Intrapartum use of zidovudine in a large cohort of pregnant women living with HIV in Italy

Author

Taramasso, Lucia, Bovis, Francesca, Di Biagio, Antonio, Mignone, Federica, Giaquinto, Carlo, Tagliabue, Claudia, Giacomet, Vania, Genovese, Orazio, Chiappini, Elena, Salomè, Serena, Badolato, Raffaele, Carloni, Ines, Cellini, Monica, Dodi, Icilio, Bossi, Grazia, Allodi, Alessandra, Bernardi, Stefania, Consolini, Rita, Dedoni, Maurizio, Banderali, Giuseppe, Mazza, Antonio, Pruccoli, Giulia, Rampon, Osvalda, Erba, Paola, Di Pietro, Giada, Montagnani, Carlotta, Capasso, Letizia, Dotta, Laura, Zallocco, Federica, De Martino, Maurizio, Lisi, Catiuscia, Tovo, Pier Angelo, Bassetti, Matteo, Gabiano, Clara, and Galli, Luisa

Published
2022
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6. Management of Anaesthesia

Author

Tosi, Federica, Genovese, Orazio, Jovanovic, Tamara, Visocchi, Massimiliano, Steiger, Hans-Jakob, Series Editor, and Visocchi, Massimiliano, editor

Published
2019
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7. Retrospective Study on Staphylococcus aureus Resistance Profile and Antibiotic Use in a Pediatric Population

Author

Buonsenso, Danilo, primary, Giaimo, Martina, additional, Pata, Davide, additional, Rizzi, Alessia, additional, Fiori, Barbara, additional, Spanu, Teresa, additional, Ruggiero, Antonio, additional, Attinà, Giorgio, additional, Piastra, Marco, additional, Genovese, Orazio, additional, Vento, Giovanni, additional, Costa, Simonetta, additional, Tiberi, Eloisa, additional, Sanguinetti, Maurizio, additional, and Valentini, Piero, additional

Published
2023
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8. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pane, Marika, primary, Berti, Beatrice, additional, Capasso, Anna, additional, Coratti, Giorgia, additional, Varone, Antonio, additional, D’Amico, Adele, additional, Messina, Sonia, additional, Masson, Riccardo, additional, Sansone, Valeria Ada, additional, Donati, Maria Alice, additional, Agosto, Caterina, additional, Bruno, Claudio, additional, Ricci, Federica, additional, Pini, Antonella, additional, Gagliardi, Delio, additional, Filosto, Massimiliano, additional, Corti, Stefania, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Onesimo, Roberta, additional, De Sanctis, Roberto, additional, Ricci, Martina, additional, Bitetti, Ilaria, additional, Sframeli, Maria, additional, Dosi, Claudia, additional, Albamonte, Emilio, additional, Ticci, Chiara, additional, Brolatti, Noemi, additional, Bertini, Enrico, additional, Finkel, Richard, additional, Mercuri, Eugenio, additional, Pera, Maria Carmela, additional, Bravetti, Chiara, additional, Piastra, Marco, additional, Genovese, Orazio, additional, Cicala, Gianpaolo, additional, Forcina, Nicola, additional, Carnicella, Sara, additional, Stanca, Giulia, additional, Sacchini, Michele, additional, Catteruccia, Michela, additional, Tosi, Michele, additional, Cutrera, Renato, additional, Cherchi, Claudio, additional, Chiarini, Maria Beatrice, additional, Salmin, Francesca, additional, Pedemonte, Marina, additional, Govoni, Alessandra, additional, Mizzoni, Irene, additional, Morando, Simone, additional, Zanin, Riccardo, additional, Rolle, Enrica, additional, Salomon, Eleonora, additional, Giannotta, Melania, additional, Scarpini, Gaia, additional, Toscano, Antonio, additional, Gitto, Eloisa, additional, Materia, Roberto, additional, and D’Alessandro, Rossella, additional

Published
2023
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9. Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen

Author

Salerno, Annalisa, Picconi, Enzo, Genovese, Orazio, Piastra, Marco, Pulitano', Silvia Maria, Tosi, Federica, Mancino, Aldo, Pane, Marika, De Sanctis, Roberto, Carlini, Debora, Mercuri, Eugenio Maria, Conti, Giorgio, Piastra, Marco (ORCID:0000-0002-3144-8970), Pulitanò, Silvia M (ORCID:0000-0002-8496-379X), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio M (ORCID:0000-0002-9851-5365), Conti, Giorgio (ORCID:0000-0002-8566-9365), Salerno, Annalisa, Picconi, Enzo, Genovese, Orazio, Piastra, Marco, Pulitano', Silvia Maria, Tosi, Federica, Mancino, Aldo, Pane, Marika, De Sanctis, Roberto, Carlini, Debora, Mercuri, Eugenio Maria, Conti, Giorgio, Piastra, Marco (ORCID:0000-0002-3144-8970), Pulitanò, Silvia M (ORCID:0000-0002-8496-379X), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio M (ORCID:0000-0002-9851-5365), and Conti, Giorgio (ORCID:0000-0002-8566-9365)

Abstract

BackgroundIntrathecal nusinersen administration, a fundamental step in the treatment of spinal muscular atrophy, is challenging in children. AimsThis retrospective monocentric analysis of prospectively collected data evaluated the feasibility of needleless general anesthesia exclusively with sevoflurane, without imaging guidance, for children undergoing nusinersen administration in a 24-month period. MethodsClinical data included demographics, type of spinal muscular atrophy, presence and severity of scoliosis. Primary outcome was defined by the number of predefined sentinel adverse events related to anesthesia. Secondary outcomes were assessed by duration of the procedure, number of lumbar puncture attempts, and number of failures. Other measures included number and type of moderate, minor and minimal adverse events, as well as number and type of puncture-related adverse events. Results116 patients (mean age: 8.7 (SD 6.9) years; with scoliosis: 49.1%) underwent 250 lumbar punctures; two cases of prolonged desaturation, considered as sentinel adverse events, (0.8%) were recorded during anesthesia (primary outcome). None of the patients underwent orotracheal intubation nor required an unplanned admission in the Pediatric Intensive Care Unit. No patient required an unplanned or prolonged hospitalization after the procedure. Mean number of puncture attempts was 1.6 (SD 1.3), and mean duration of the procedure was 14.1 (SD 8.3) minutes. No failure in the drug administration occurred (secondary outcomes). ConclusionIn this single-center experience, needleless general anesthesia with inhaled sevoflurane without imaging guidance has been shown to be feasible for children with spinal muscular atrophy undergoing lumbar puncture for nusinersen administration.

Published
2023

10. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pane, Marika, Berti, B., Capasso, Anna, Coratti, Giorgia, Varone, A., D'Amico, A., Messina, S., Masson, R., Sansone, V. A., Donati, M. A., Agosto, C., Bruno, C., Ricci, F., Pini, A., Gagliardi, D., Filosto, M., Corti, S., Leone, D., Palermo, C., Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, I., Sframeli, M., Dosi, C., Albamonte, E., Ticci, C., Brolatti, N., Bertini, Enrico Silvio, Finkel, R., Mercuri, Eugenio Maria, Pera, Maria Carmela, Bravetti, C., Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, N., Carnicella, S., Stanca, G., Sacchini, M., Catteruccia, M., Tosi, M., Cutrera, Renato, Chierchi, C., Chiarini, M. B., Salmin, F., Pedemonte, M., Govoni, A., Mizzoni, I., Morando, S., Zanin, R., Rolle, E., Salomon, E., Giannotta, M., Scarpini, G., Toscano, A., Gitto, E., Materia, R., D'Alessandro, R., Pane M. (ORCID:0000-0002-4851-6124), Capasso A., Coratti G. (ORCID:0000-0001-6666-5628), Onesimo R., De Sanctis R., Ricci M., Bertini E., Mercuri E. (ORCID:0000-0002-9851-5365), Pera M. C. (ORCID:0000-0001-6777-1721), Piastra M. (ORCID:0000-0002-3144-8970), Genovese O., Cicala G., Cutrera R., Pane, Marika, Berti, B., Capasso, Anna, Coratti, Giorgia, Varone, A., D'Amico, A., Messina, S., Masson, R., Sansone, V. A., Donati, M. A., Agosto, C., Bruno, C., Ricci, F., Pini, A., Gagliardi, D., Filosto, M., Corti, S., Leone, D., Palermo, C., Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, I., Sframeli, M., Dosi, C., Albamonte, E., Ticci, C., Brolatti, N., Bertini, Enrico Silvio, Finkel, R., Mercuri, Eugenio Maria, Pera, Maria Carmela, Bravetti, C., Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, N., Carnicella, S., Stanca, G., Sacchini, M., Catteruccia, M., Tosi, M., Cutrera, Renato, Chierchi, C., Chiarini, M. B., Salmin, F., Pedemonte, M., Govoni, A., Mizzoni, I., Morando, S., Zanin, R., Rolle, E., Salomon, E., Giannotta, M., Scarpini, G., Toscano, A., Gitto, E., Materia, R., D'Alessandro, R., Pane M. (ORCID:0000-0002-4851-6124), Capasso A., Coratti G. (ORCID:0000-0001-6666-5628), Onesimo R., De Sanctis R., Ricci M., Bertini E., Mercuri E. (ORCID:0000-0002-9851-5365), Pera M. C. (ORCID:0000-0001-6777-1721), Piastra M. (ORCID:0000-0002-3144-8970), Genovese O., Cicala G., and Cutrera R.

Abstract

Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days–72 months) and weight (3.2–17 kg) range, also including patients previously treated with other drugs. Methods: 46 patients were treated for 12 months between January 2020 and March 2022. Safety profile was also available for another 21 patients with at least 6 month follow-up after OA infusion. 19/67 were treatment naïve when treated with OA. Motor function was measured with the CHOP-INTEND. Findings: CHOP-INTEND changes varied among age groups. Baseline score and age at OA treatment best predicted changes. A mixed model post-hoc analysis showed that in patients treated before the age of 24 months the CHOP-INTEND changes were already significant 3 months after OA while in those treated after the age of 24 months the difference was only significant 12 months after OA. Adverse events occurred in 51/67. The risk for elevated transaminases serum levels was higher in older patients. This was also true for weight and for pre-treatment with nusinersen when analysed individually. A binomial negative regression analysis showed that only age at OA treatment had a significant effect on the risk of elevated transaminases. Interpretation: Our paper describes OA 12-month follow-up showing efficacy across various age and weight groups not targeted by clinical trials. The study identifies prognostic factors for safety and efficacy in treatment selection. Funding: None.

Published
2023

11. Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function

Author

Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, Brolatti, Noemi, Mizzoni, Irene, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Salmin, Francesca, De Sanctis, Roberto, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Ricci, Federica, Cavallina, Ilaria, Masson, Riccardo, Zanin, Riccardo, Agosto, Caterina, Salomon, Eleonora, Bruno, Irene, Magnolato, Andrea, Bertini, Enrico Silvio, Tiziano, Francesco Danilo, Bovis, Francesca, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), de Sanctis, Roberto, Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Piastra, Marco (ORCID:0000-0002-3144-8970), Bertini, Enrico, Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, Brolatti, Noemi, Mizzoni, Irene, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Salmin, Francesca, De Sanctis, Roberto, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Ricci, Federica, Cavallina, Ilaria, Masson, Riccardo, Zanin, Riccardo, Agosto, Caterina, Salomon, Eleonora, Bruno, Irene, Magnolato, Andrea, Bertini, Enrico Silvio, Tiziano, Francesco Danilo, Bovis, Francesca, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), de Sanctis, Roberto, Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Piastra, Marco (ORCID:0000-0002-3144-8970), Bertini, Enrico, Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Background: We report the 4 year follow up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number. Methods: The study included SMA 1 patients with at least one assessment after 12, 24 and 48 months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE-2). Results: Forty-eight patients, with age ranging from 7 days and 12 years (mean 3.3, SD 3.6) were included in the study. The CHOP INTEND and HINE-II score significantly increased between baseline and 48 months (p<0.001). When age at starting treatment subgroups (<210 days, <2 years, 2-4 years, 5-11 years, >12 years) were considered, the CHOP INTEND increased significantly in patients younger than 4 years at treatment, while the HINE-2 increased significantly in patients younger than 2 years at treatment. In a mixed model analysis, age, nutritional and respiratory status were predictive of changes on both scales while SMN2 copy number and decimal classification were not. Conclusions: Our results confirm the safety profile previously reported and support the durability of the efficacy of nusinersen at 4 years with an overall stability or mild improvement and no evidence of deterioration over a long period of time.

Published
2023

12. Retrospective Study on Staphylococcus aureus Resistance Profile and Antibiotic Use in a Pediatric Population

Author

Buonsenso, Danilo, Giaimo, Martina, Pata, Davide, Rizzi, Alessia, Fiori Alfarano, Barbara, Spanu Pennestri, Teresa, Ruggiero, Antonio, Attinà, Giorgio, Piastra, Marco, Genovese, Orazio, Vento, Giovanni, Costa, Simonetta, Tiberi, Eloisa, Sanguinetti, Maurizio, Valentini, Piero, Fiori, Barbara (ORCID:0000-0003-3318-5809), Spanu, Teresa (ORCID:0000-0003-1864-5184), Ruggiero, Antonio (ORCID:0000-0002-6052-3511), Piastra, Marco (ORCID:0000-0002-3144-8970), Vento, Giovanni (ORCID:0000-0002-8132-5127), Sanguinetti, Maurizio (ORCID:0000-0002-9780-7059), Valentini, Piero (ORCID:0000-0001-6095-9510), Buonsenso, Danilo, Giaimo, Martina, Pata, Davide, Rizzi, Alessia, Fiori Alfarano, Barbara, Spanu Pennestri, Teresa, Ruggiero, Antonio, Attinà, Giorgio, Piastra, Marco, Genovese, Orazio, Vento, Giovanni, Costa, Simonetta, Tiberi, Eloisa, Sanguinetti, Maurizio, Valentini, Piero, Fiori, Barbara (ORCID:0000-0003-3318-5809), Spanu, Teresa (ORCID:0000-0003-1864-5184), Ruggiero, Antonio (ORCID:0000-0002-6052-3511), Piastra, Marco (ORCID:0000-0002-3144-8970), Vento, Giovanni (ORCID:0000-0002-8132-5127), Sanguinetti, Maurizio (ORCID:0000-0002-9780-7059), and Valentini, Piero (ORCID:0000-0001-6095-9510)

Abstract

The growing phenomenon of antibiotic resistance and the presence of limited data concerning the pediatric area prompted us to focus on Staphylococcus aureus infection in this study, its antibiotic resistance profile, and the therapeutic management of affected children. We conducted a retrospective study by collecting clinical data on infants and children with antibiogram-associated S. aureus infection. We enrolled 1210 patients with a mean age of 0.9 years. We analyzed the resistance patterns and found 61.5% resistance to oxacillin, 58.4% resistance to cephalosporins, 41.6% resistance to aminoglycosides, and 38.3% resistance to fluoroquinolones. Importantly, we found no resistance to glycopeptides, a key antibiotic for MRSA infections whose resistance is increasing worldwide. We also found that the main risk factors associated with antibiotic resistance are being aged between 0 and 28 days, the presence of devices, and comorbidities. Antibiotic resistance is a growing concern; knowing the resistance profiles makes it possible to better target the therapy; however, it is important to use antibiotics according to the principles of antibiotic stewardship to limit their spread.

Published
2023

14. Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen

Author

Salerno, Annalisa, primary, Picconi, Enzo, additional, Genovese, Orazio, additional, Piastra, Marco, additional, Pulitanò, Silvia M., additional, Tosi, Federica, additional, Mancino, Aldo, additional, Pane, Marika, additional, De Sanctis, Roberto, additional, Carlini, Debora, additional, Mercuri, Eugenio M., additional, and Conti, Giorgio, additional

Published
2023
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15. Trauma

Author

Piek, Jürgen, Massimi, Luca, Chiaretti, Antonio, Genovese, Orazio, Di Rocco, Concezio, Arnold, Wolfgang, editor, Ganzer, Uwe, editor, Lumenta, Christianto B., editor, Di Rocco, Concezio, editor, Haase, Jens, editor, and Mooij, Jan Jakob A., editor

Published
2010
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16. Strategies for Prevention of Mother-to-Child Transmission Adopted in the “Real-World” Setting: Data From the Italian Register for HIV-1 Infection in Children

Author

Chiappini, Elena, Galli, Luisa, Lisi, Catiuscia, Gabiano, Clara, Esposito, Susanna, Giacomet, Vania, Giaquinto, Carlo, Rampon, Osvalda, Badolato, Raffaele, Genovese, Orazio, Buffolano, Wilma, Osimani, Patrizia, Cellini, Monica, Bernardi, Stefania, Maccabruni, Anna, Dodi, Icilio, Salvini, Filippo, Faldella, Giacomo, Quercia, Michele, Gotta, Cristina, Rabusin, Marco, Natale, Fabio, Mazza, Antonio, Merighi, Mara, Tovo, Pier-Angelo, and de Martino, Maurizio

Published
2018
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17. Risk of Perinatal HIV Infection in Infants Born in Italy to Immigrant Mothers

Author

Chiappini, Elena, Galli, Luisa, Lisi, Catiuscia, Gabiano, Clara, Giaquinto, Carlo, Giacomet, Vania, Buffolano, W., Esposito, Susanna, Badolato, Raffaele, Berbardi, S., Cellini, Monica, Dodi, Icilio, Faldella, Giacomo, Osimani, Patrizia, Genovese, Orazio, Nicastro, Emanuele, Viscoli, Claudio, Salvini, Federico, Tovo, Pier-Angelo, and de Martino, Maurizio

Published
2011
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18. Is the Interruption of Antiretroviral Treatment during Pregnancy an Additional Major Risk Factor for Mother-to-Child Transmission of HIV Type 1?

Author

Galli, Luisa, Puliti, Donella, Chiappini, Elena, Gabiano, Clara, Ferraris, Gabriele, Mignone, Federica, Viganò, Alessandra, Giaquinto, Carlo, Genovese, Orazio, Anzidei, Gianfranco, Badolato, Raffaele, Buffolano, Wilma, Maccabruni, Anna, Salvini, Filippo, Cellini, Monica, Ruggeri, Maurizio, Manzionna, Mariano, Bernardi, Stefania, Tovo, Pierangelo, and de Martino, Maurizio

Published
2009
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19. Noninvasive Ventilation in a Pediatric Trauma Center: A Cohort Study

Author

Piastra, Marco, De Bellis, Andrea, Morena, Tony Christian, De Luca, D., Pezza, Lucilla, Pizza, A., Genovese, Orazio, Mancino, Aldo, Picconi, Enzo, Conti, Giorgio, Piastra M. (ORCID:0000-0002-3144-8970), De Bellis A., Morena T. C., Pezza L., Genovese O., Mancino A., Picconi E., Conti G. (ORCID:0000-0002-8566-9365), Piastra, Marco, De Bellis, Andrea, Morena, Tony Christian, De Luca, D., Pezza, Lucilla, Pizza, A., Genovese, Orazio, Mancino, Aldo, Picconi, Enzo, Conti, Giorgio, Piastra M. (ORCID:0000-0002-3144-8970), De Bellis A., Morena T. C., Pezza L., Genovese O., Mancino A., Picconi E., and Conti G. (ORCID:0000-0002-8566-9365)

Abstract

Objective: To determine whether non-invasive ventilation (NIV) can avoid the need for tracheal intubation and/or reduce the duration of invasive ventilation (IMV) in previously intubated patients admitted to the pediatric intensive care unit (PICU) and developing acute hypoxemic respiratory failure (AHRF) after major traumatic injury. Study Design: A single center observational cohort study. Setting: Pediatric ICU in a University Hospital (tertiary referral Pediatric Trauma Centre) Population: During the 48-month study period, 276 patients (median age 6.4 years) with trauma were admitted to PICU; among 86 of them, who suffered from AHRF and received ventilation (IMV and/or NIV) for more than 12 hrs, 32 patients (median age 8.5 years) were treated with NIV. Inclusion/Exclusion Criteria: Inclusion criteria: at least 12 hours of NIV; exclusion criteria: patients with facial trauma or congenital malformations; patients receiving IMV <12 hours or perioperative ventilation. Measurements and Results: Among NIV patients, 27 (84,3%) were previously on IMV, while 5 (15,6%) could be managed exclusively with NIV. In patients with post-extubation respiratory distress, NIV was successful in 88.4% of cases. Before starting NIV, P/F ratio was 242.7 ± 71. After 8 hours of NIV treatment, a significant oxygenation improvement (PaO2/FiO2 = 354.3 ± 81; p = 0.0002) was found, with no significant changes in carbon dioxide levels. A trend toward increasing ventilation-free time has been evidenced; NIV resulted feasible and generally well tolerated. Conclusions: AHRF in trauma patients is multifactorial and may be due to many reasons, such as lung contusion, aspiration of blood or gastric contents. Systemic inflammatory response and transfusions may also contribute to hypoxia. Our pilot study strongly suggests that NIV can be applied in post-traumatic AHRF: it may successfully reduce the time of both invasive ventilation and deep sedation. Further data from controlled studies are needed

Published
2022

21. Neonatal Life-Threatening Nonoliguric Hyperkalemia Under Therapeutic Hypothermia

Author

Piastra, Marco, primary, Tempera, Alessia, additional, De Carolis, Maria Pia, additional, Pezza, Lucilla, additional, Genovese, Orazio, additional, Benassi, Cristina, additional, Morena, Tony C., additional, Picconi, Enzo, additional, Zito, Geremia, additional, De Rosa, Gabriella, additional, Conti, Giorgio, additional, and De Luca, Daniele, additional

Published
2021
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28. Neonatal Life-Threatening Nonoliguric Hyperkalemia under Therapeutic Hypothermia

Author

Piastra, Marco, Tempera, A., De Carolis, Maria Pia, Pezza, Lucilla, Genovese, Orazio, Benassi, C., Morena, Tony Christian, Picconi, Enzo, Zito, G., De Rosa, Gabriella, Conti, Giorgio, De Luca, D., Piastra M. (ORCID:0000-0002-3144-8970), De Carolis M. P. (ORCID:0000-0003-2054-8228), Pezza L., Genovese O., Morena T. C., Picconi E., De Rosa G. (ORCID:0000-0002-8780-5105), Conti G. (ORCID:0000-0002-8566-9365), Piastra, Marco, Tempera, A., De Carolis, Maria Pia, Pezza, Lucilla, Genovese, Orazio, Benassi, C., Morena, Tony Christian, Picconi, Enzo, Zito, G., De Rosa, Gabriella, Conti, Giorgio, De Luca, D., Piastra M. (ORCID:0000-0002-3144-8970), De Carolis M. P. (ORCID:0000-0003-2054-8228), Pezza L., Genovese O., Morena T. C., Picconi E., De Rosa G. (ORCID:0000-0002-8780-5105), and Conti G. (ORCID:0000-0002-8566-9365)

Abstract

To illustrate our experience with two cases of neonatal life-threatening hyperkalemia during therapeutic hypothermia (TH) despite a normal acid-base status, urine output, and preserved renal function. Clinical cases are presented from Pediatric Intensive Care Unit (PICU) admission to the onset of the hyperkalemia, with related complications and after resolution. Similar cases were not retrieved from a critical review of pertinent literature. Severe hyperkalemia pathophysiology and risk factors have been debated. Two full-term adequate for weight female neonates were admitted to PICU because of perinatal asphyxia who underwent TH. Prenatal history was completely uneventful, nor hereditary genetic conditions were reported; moreover, long-term follow-up ruled out any metabolic or renal disease. Despite an accurate evaluation of previous clinical series and literature on TH and perinatal asphyxia, these hyperkalemic episodes remain unexplained. The hypoxic-ischemic insult may affect multiple organs, mainly central nervous system, heart, lung, and kidneys; acute muscle breakdown and consequent rising of myoglobin may also have a precipitating role in acute kidney failure (AKF) and hyperkalemia. Electrolyte imbalance is a possible finding as a consequence of combined cell injury and AKF. In contrast, an isolated severe hyperkalemia is exceedingly rare in nonoliguric neonates.

Published
2021

29. Type I SMA “new natural history”: long-term data in nusinersen-treated patients

Author

Pane, Marika, Coratti, Giorgia, Sansone, V. A., Messina, S., Catteruccia, M., Bruno, C., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, Adele, Bravetti, C., Berti, B., Palermo, C., Leone, D., Brigati, G., Tacchetti, P., Salmin, F., De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico Silvio, Vita, G., Tiziano, Francesco Danilo, Mercuri, Eugenio Maria, Pane M. (ORCID:0000-0002-4851-6124), Coratti G. (ORCID:0000-0001-6666-5628), D'Amico A., De Sanctis R., Lucibello S., Pera M. C. (ORCID:0000-0001-6777-1721), Piastra M. (ORCID:0000-0002-3144-8970), Genovese O., Bertini E., Tiziano F. D. (ORCID:0000-0002-5545-6158), Mercuri E. (ORCID:0000-0002-9851-5365), Pane, Marika, Coratti, Giorgia, Sansone, V. A., Messina, S., Catteruccia, M., Bruno, C., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, Adele, Bravetti, C., Berti, B., Palermo, C., Leone, D., Brigati, G., Tacchetti, P., Salmin, F., De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico Silvio, Vita, G., Tiziano, Francesco Danilo, Mercuri, Eugenio Maria, Pane M. (ORCID:0000-0002-4851-6124), Coratti G. (ORCID:0000-0001-6666-5628), D'Amico A., De Sanctis R., Lucibello S., Pera M. C. (ORCID:0000-0001-6777-1721), Piastra M. (ORCID:0000-0002-3144-8970), Genovese O., Bertini E., Tiziano F. D. (ORCID:0000-0002-5545-6158), and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

Objective: The aim of this paper was to report the 2-year follow-up in type I patients treated with Nusinersen and to assess whether possible changes in motor function are related to the subtype, age, or SMN2 copy number. Methods: Sixty-eight patients, with ages ranging from 0.20 to 15.92 years (mean: 3.96; standard deviation: +3.90) were enrolled in the study. All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the developmental section of the Hammersmith Infant Neurological Examination (HINE-2) at the time they started treatment and 12 and 24 months after that. Results: For both CHOP and HINE-2 repeated measures analysis of variance showed a significant difference (P < 0.001) between baseline and 12 months, 12 months and 24 months, and baseline and 24-month scores for the whole group. When age subgroups (<210 days, <2 years, 2–4 years, 5–11 years, 12–18 years) were considered, on the CHOP INTEND the difference was significant between baseline and 24 months in all age subgroups. On the HINE-2, the difference between baseline and 24 months was significant in all the subgroups before the age of 4 years. Age was predictive of changes on both scales (P < 0.05), whereas SMN2 copy number and decimal classification were not. Interpretation: Our results suggest that some improvement of motor function can be observed even after the first year of treatment. This is more obvious in the infants treated in the first 2 years but some improvement can also be found in older children.

Published
2021

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

Author

Crichton, Siobhan, Belfrage, Eric, Collins, Intira Jeanne, Doerholt, Katja, Judd, Ali, Le Coeur, Sophie, Spoulou, Vana, Goodall, Ruth, Scherpbier, Henriette, Smit, Colette, Goetghebuer, Tessa, Gibb, Diana M., Noguera, Antoni, Luisa Navarro, Maria, Tomas Ramos, Jose, Galli, Luisa, Giaquinto, Carlo, Thorne, Claire, Santa Ansone, Marczynska, Magdalena, Okhonskaia, Liubov, de Tejada, Begona Martinez, Jourdain, Gonzague, Decker, Luc, Ene, Luminita, Hainaut, Marc, Van der Kelen, Evelyne, Delforge, Marc, de Martino, Maurizio, Tovo, Pier Angelo, Patrizia, Osimani, Larovere, Domenico, Ruggeri, Maurizio, Faldella, Giacomo, Baldi, Francesco, Badolato, Raffaele, Montagnani, Carlotta, Venturini, Elisabetta, Lisi, Catiuscia, Di Biagio, Antonio, Taramasso, Lucia, Giacomet, Vania, Erba, Paola, Esposito, Susanna, Lipreri, Rita, Salvini, Filippo, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, Lo Vecchio, Andrea, Rampon, Osvalda, Dona, Daniele, Romano, Amelia, Dodi, Icilio, Maccabruni, Anna, Consolini, Rita, Bernardi, Stefania, Kuekou, Hyppolite Tchidjou, Genovese, Orazio, Olmeo, Paolina, Cristiano, Letizia, Mazza, Antonio, Gabiano, Clara, Garazzino, Silvia, Pellegatta, Antonio, Pajkrt, D., Scherpbier, H. J., Weijsenfeld, A. M., de Boer, C. G., Jurriaans, S., Back, N. K. T., Zaaijer, H. L., Berkhout, B., Cornelissen, M. T. E., Schinkel, C. J., Wolthers, K. C., Fraaij, P. L. A., van Rossum, A. M. C., Vermont, C. L., van der Knaap, L. C., Visser, E. G., Boucher, C. A. B., Koopmans, M. P. G., van Kampen, J. J. A., Pas, S. D., Henriet, S. S., V, van de Flier, M., van Aerde, K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F. F., Scholvinck, E. H., de Groot-de Jonge, H., Niesters, H. G. M., van Leer-Buter, C. C., Knoester, M., Bont, L. J., Geelen, S. P. M., Wolfs, T. F. W., Nauta, N., Schuurman, R., Verduyn-Lunel, F., Wensing, A. M. J., Reiss, P., Zaheri, S., Bezemer, D. O., van Sighem, A., I, Smit, C., Wit, F. W. M. N., Hillebregt, M., de Jong, A., Woudstra, T., Bergsma, D., Grivell, S., Meijering, R., Raethke, M., Rutkens, T., de Groot, L., van den Akker, M., Bakker, Y., Bezemer, M., El Berkaoui, A., Geerlinks, J., Koops, J., Kruijne, E., Lodewijk, C., Lucas, E., van der Meer, R., Munjishvili, L., Paling, E., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., van de Sande, L., Schoorl, M., Schnorr, P., Tuijn, E., Veenenberg, L., van der Vliet, S., Wisse, A., Witte, E. C., Tuk, B., Popielska, Jolanta, Pokorska-Spiewak, Maria, Oldakowska, Agnieszka, Zawadka, Konrad, Coupland, Urszula, Doroba, Malgorzata, Voronin, Evgeny, Miloenko, Milana, Labutina, Svetlana, Soler-Palacin, Pere, Antoinette Frick, Maria, Perez-Hoyos, Santiago, Mur, Antonio, Lopez, Nuria, Mendez, Maria, Mayol, Lluis, Vallmanya, Teresa, Calavia, Olga, Garcia, Lourdes, Coll, Maite, Pineda, Valenti, Rius, Neus, Rovira, Nuria, Duenas, Joaquin, Gamell, Anna, Fortuny, Claudia, Noguera-Julian, Antoni, Jose Mellado, Maria, Escosa, Luis, Garcia Hortelano, Milagros, Sainz, Talia, Isabel Gonzalez-Tome, Maria, Rojo, Pablo, Blazquez, Daniel, Prieto, Luis, Guillen, Sara, Saavedra, Jesus, Santos, Mar, Angeles Munoz, Ma, Ruiz, Beatriz, Fernandez Mc Phee, Carolina, Jimenez de Ory, Santiago, Alvarez, Susana, Angel Roa, Miguel, Beceiro, Jose, Martinez, Jorge, Badillo, Katie, Apilanez, Miren, Pocheville, Itziar, Garrote, Elisa, Colino, Elena, Gomez Sirvent, Jorge, Garzon, Monica, Roman, Vicente, Montesdeoca, Abian, Mateo, Mercedes, Jose Munoz, Maria, Angulo, Raquel, Neth, Olaf, Falcon, Lola, Terol, Pedro, Luis Santos, Juan, Moreno, David, Lendinez, Francisco, Grande, Ana, Jose Romero, Francisco, Perez, Carlos, Lillo, Miguel, Losada, Begona, Herranz, Mercedes, Bustillo, Matilde, Guerrero, Carmelo, Collado, Pilar, Antonio Couceiro, Jose, Perez, Amparo, Isabel Piqueras, Ana, Breton, Rafael, Segarra, Inmaculada, Gavilan, Cesar, Jareno, Enrique, Montesinos, Elena, Dapena, Marta, Alvarez, Cristina, Gloria Andres, Ana, Marugan, Victor, Ochoa, Carlos, Alfayate, Santiago, Isabel Menasalvas, Ana, de Miguel, Elisa, Naver, Lars, Soeria-Atmadja, Sandra, Hagas, Vendela, Aebi-Popp, K., Anagnostopoulos, A., Asner, S., Battegay, M., Baumann, M., Bernasconi, E., Boni, J., Braun, D. L., Bucher, H. C., Calmy, A., Cavassini, M., Ciuffi, A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C. A., Grawe, C., Gunthard, H. F., Haerry, D., Hasse, B., Hirsch, H. H., Hoffmann, M., Hosli, I, Huber, M., Kahlert, C. R., Kaiser, L., Keiser, O., Klimkait, T., Kottanattu, L., Kouyos, R. D., Kovari, H., Ledergerber, B., Martinetti, G., de Tejada, Martinez B., Marzolini, C., Metzner, K. J., Mueller, N., Nicca, D., Paioni, P., Pantaleo, G., Perreau, M., Polli, Ch, Rauch, A., Rudin, C., Scherrer, A. U., Schmid, P., Speck, R., Stockle, M., Tarr, P., Lecompte, Thanh M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Wyler, C. A., Yerly, S., Wannarit, Pornpun, Techakunakorn, Pornchai, Hansudewechakul, Rawiwan, Wanchaitanawong, Vanichaya, Theansavettrakul, Sookchai, Nanta, Sirisak, Ngampiyaskul, Chaiwat, Phanomcheong, Siriluk, Hongsiriwon, Suchat, Karnchanamayul, Warit, Kwanchaipanich, Ratchanee, Kanjanavanit, Suparat, Kamonpakorn, Nareerat, Nantarukchaikul, Maneeratn, Layangool, Prapaisri, Mekmullica, Jutarat, Lucksanapisitkul, Paiboon, Watanayothin, Sudarat, Lertpienthum, Narong, Warachit, Boonyarat, Hanpinitsak, Sansanee, Potchalongsin, Sathit, Thanasiri, Pimpraphai, Krikajornkitti, Sawitree, Attavinijtrakarn, Pornsawan, Srirojana, Sakulrat, Bunjongpak, Suthunya, Puangsombat, Achara, Na-Rajsima, Sathaporn, Ananpatharachai, Pornchai, Akarathum, Noppadon, Lawtongkum, Weerasak, An, Prapawan Kheunj, Suriyaboon, Thitiporn, Saipanya, Airada, Than-in-at, Kanchana, Jaisieng, Nirattiya, Suaysod, Rapeepan, Chailoet, Sanuphong, Naratee, Naritsara, Kawilapat, Suttipong, Lyall, Hermione, Bamford, Alasdair, Butler, Karim, Doherty, Conor, Foster, Caroline, Francis, Kate, Harrison, Ian, Kenny, Julia, Klein, Nigel, Letting, Gillian, McMaster, Paddy, Murau, Fungai, Nsangi, Edith, Peters, Helen, Prime, Katia, Riordan, Andrew, Shackley, Fiona, Shingadia, Delane, Storey, Sharon, Tudor-Williams, Gareth, Turkova, Anna, Welch, Steve, Collins, Intira Jeannie, Cook, Claire, Dobson, Donna, Fairbrother, Keith, Harper, Lynda, Le Prevost, Marthe, Van Looy, Nadine, Butler, K., Walsh, A., Thrasyvoulou, L., Welch, S., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Sloper, K., Fidler, K., Hague, R., Price, V, Clapson, M., Flynn, J., Abou-Rayyah, A. Cardoso M., Klein, N., Shingadia, D., Gurtin, D., Yeadon, S., Segal, S., Ball, C., Hawkins, S., Dowie, M., Bandi, S., Percival, E., Eisenhut, M., Duncan, K., Clough, S., Anguvaa, L., Conway, S., Flood, T., Pickering, A., Murphy, P. McMaster C., Daniels, J., Lees, Y., Thompson, F., Williams, B., Pope, S., Cliffe, L., Smyth, A., Southall, S., Freeman, A., Freeman, H., Christie, S., Gordon, A., Clarke, D. Rogahn L., Jones, L., Offerman, B., Greenberg, M., Benson, C., Riordan, A., Ibberson, L., Shackley, F., Faust, S. N., Hancock, J., Doerholt, K., Prime, K., Sharland, M., Storey, S., Lyall, H., Monrose, C., Seery, P., Tudor-Williams, G., Menson, E., Callaghan, A., Bridgwood, A., McMaster, P., Evans, J., Blake, E., Yannoulias, A., European Pregnancy Paediat HIV Coh, Microbes in Health and Disease (MHD), Fundación Investigación y Educación en Sida, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Épidémiologie clinique, santé mère-enfant et VIH en Asie du Sud-Est (IRD_PHPT), Harvard University [Cambridge]-Chiang Mai University (CMU), Pediatrics, and Virology

Subjects
0301 basic medicine, Male, Pediatrics, puberty, [SDV]Life Sciences [q-bio], humanos, Human immunodeficiency virus (HIV), adolescente, LETTONIE, CHILDREN, HIV Infections, medicine.disease_cause, GRECE, desarrollo del niño, Cohort Studies, 0302 clinical medicine, Child Development, CHILD_DEVELOPMENT, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, ADOLESCENTS, Immunology and Allergy, Pooled data, 030212 general & internal medicine, SUEDE, Child, estudios de cohortes, ESPAGNE, 11 Medical and Health Sciences, Anthropometry, THAILANDE, Europe, growth, height, HIV, perinatal, Thailand, Adolescent, Anti-Retroviral Agents, Child, Preschool, Female, Humans, Infant, Puberty, virus diseases, Growth spurt, PAYS BAS, 3. Good health, 17 Psychology and Cognitive Sciences, AIDS, antirretrovirales, Infectious Diseases, POLOGNE, BELGIQUE, Life Sciences & Biomedicine, medicine.medical_specialty, Pediatric hiv, Epidemiology and Social, ROYAUME UNI, Immunology, MASS, European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) study group, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Virology, medicine, pubertad, Preschool, lactante, ROUMANIE, Science & Technology, business.industry, 06 Biological Sciences, VELOCITY, SUISSE, Regimen, 030104 developmental biology, VIRAL LOAD, antropometría, infecciones por VIH, BODY_HEIGHT, business, IRLANDE, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

The European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) study group., [Objective]: The aim of this study was to describe growth during puberty in young people with vertically acquired HIV. [Design]: Pooled data from 12 paediatric HIV cohorts in Europe and Thailand. [Methods]: One thousand and ninety-four children initiating a nonnucleoside reverse transcriptase inhibitor or boosted protease inhibitor based regimen aged 1–10 years were included. Super Imposition by Translation And Rotation (SITAR) models described growth from age 8 years using three parameters (average height, timing and shape of the growth spurt), dependent on age and height-for-age z-score (HAZ) (WHO references) at antiretroviral therapy (ART) initiation. Multivariate regression explored characteristics associated with these three parameters. [Results]: At ART initiation, median age and HAZ was 6.4 [interquartile range (IQR): 2.8, 9.0] years and −1.2 (IQR: −2.3 to −0.2), respectively. Median follow-up was 9.1 (IQR: 6.9, 11.4) years. In girls, older age and lower HAZ at ART initiation were independently associated with a growth spurt which occurred 0.41 (95% confidence interval 0.20–0.62) years later in children starting ART age 6 to 10 years compared with 1 to 2 years and 1.50 (1.21–1.78) years later in those starting with HAZ less than −3 compared with HAZ at least −1. Later growth spurts in girls resulted in continued height growth into later adolescence. In boys starting ART with HAZ less than −1, growth spurts were later in children starting ART in the oldest age group, but for HAZ at least −1, there was no association with age. Girls and boys who initiated ART with HAZ at least −1 maintained a similar height to the WHO reference mean. [Conclusion]: Stunting at ART initiation was associated with later growth spurts in girls. Children with HAZ at least −1 at ART initiation grew in height at the level expected in HIV negative children of a comparable age., This work has been partially funded by the Fundación para la Investigación y Prevención de SIDA en España (FIPSE) (FIPSE 3608229/09, FIPSE 240800/09, FIPSE 361910/10), Red Temática de Investigación en SIDA (RED RIS) supported by Instituto de Salud Carlos III (ISCIII) (RD12/0017/0035 and RD12/0017/0037), project as part of the Plan R+D+I and cofinanced by ISCIII- Subdirección General de Evaluación and Fondo Europeo de Desarrollo Regional (FEDER),Mutua Madrileña 2012/0077, Gilead Fellowship 2013/0071, FIS PI15/00694,CoRISpe (RED RIS RD06/0006/0035 y RD06/0006/0021).

Published
2019
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40. Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome

Author

Battini, R., Olivieri, G., Milone, R., Mazio, F., Scalise, R., Verdolotti, Tommaso, Primiano, Guido Alessandro, Genovese, Orazio, Mercuri, Eugenio Maria, Servidei, Serenella, Verdolotti T., Primiano G., Genovese O., Mercuri E. (ORCID:0000-0002-9851-5365), Servidei S. (ORCID:0000-0001-8478-2799), Battini, R., Olivieri, G., Milone, R., Mazio, F., Scalise, R., Verdolotti, Tommaso, Primiano, Guido Alessandro, Genovese, Orazio, Mercuri, Eugenio Maria, Servidei, Serenella, Verdolotti T., Primiano G., Genovese O., Mercuri E. (ORCID:0000-0002-9851-5365), and Servidei S. (ORCID:0000-0001-8478-2799)

Abstract

Background: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. Case description: We describe a 52-month-old female whose clinical and neuroradiological pictures were consistent with myelopathy, which is generally more frequent in older patients, as well as with symptoms of an infantile onset of biotinidase deficiency, revealed at 17 months. Results: A biochemical biotinidase test revealed a profound deficiency of biotinidase detecting a 10% residual enzymatic activity, which led to the diagnosis of BTD. Gene sequencing revealed a compound heterozigous mutation (c.454A > C/c.1612C > T). Conclusion: Our findings suggest that even if myelopathy is uncommonly reported in BTD, and generally occurs in older children, its presence in childhood-onset floppiness should always be considered as a possible marker for an atypical presentation of BTD. Although, until recently, BTD myelopathy was believed to be prevalent in older children, a spinal cord involvement has also been described in at least nine cases in early infancy. Thus, another early diagnosis suggests that myelopathy may be more frequent than previously thought, and it is probably underdiagnosed because spinal MRI is not always routinely performed on these children. Early recognition of BTD disease is important as it would lead to prompt treatment, preventing irreversible brain damage and increasing the chances of complete recovery.

Published
2020

43. A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Author

Leone, Daniela, de Sanctis, Roberto, Forcina, Nicola, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Versaci, Antonio, Rulli, Imma, Gitto, Eloisa, Faraone, Cristina, La Foresta, Stefania, Macrì, Maria, Colia, Giulia, Bonetti, Anna Maria, Carlesi, Adelina, Cutrera, Renato, Chiarini, Maria Beatrice, Ferretti, Marta, Garaventa, Alberto, Montobbio, Giovanni, Gandolfo, Carlo, Iurilli, Valentina, Tacchetti, Paola, Bobeica, Emilia, D'Agostino, Alessia, Pirola, Alice, Lupone, Sara, De Mattia, Elisa, Falcier, Elisa, Rao, Fabrizio, Casiraghi, Jacopo, Salmin, Francesca, Grandi, Cristina, Fedeli, Fausto, Mancini, Luca, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Travaglia, Beatrice, Mizzotti, Emma, Sansone, V.A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., and Mercuri, E.

Published
2018
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47. Five-year follow-up of children with perinatal HIV-1 infection receiving early highly active antiretroviral therapy

Author

Badolato Raffaele, Esposito Susanna, Giaquinto Carlo, Guarino Alfredo, Viganò Alessandra, Bernardi Stefania, Lisi Catiuscia, Gabiano Clara, Tovo Pier-Angelo, Galli Luisa, Chiappini Elena, Di Bari Cesare, Rosso Raffaella, Genovese Orazio, Masi Massimo, Mazza Antonio, and de Martino Maurizio

Subjects
Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Early highly active antiretroviral therapy (HAART), started within the first months of age, has been proven to be the optimal strategy to prevent immunological and clinical deterioration in perinatally HIV-infected children. Nevertheless, data about long-term follow-up of early treated children are lacking. Methods We report data from 40 perinatally HIV-infected-children receiving early HAART, with a median follow-up period of 5.96 years (interquartile range [IQR]:4.21–7.62). Children were enrolled at birth in the Italian Register for HIV Infection in Children. Comparison with 91 infected children born in the same period, followed-up from birth, and receiving deferred treatment was also provided. Results Nineteen children (47.5%) were still receiving their first HAART regimen at last follow-up. In the remaining children the first regimen was discontinued, after a median period of 3.77 years (IQR: 1.71–5.71) because of viral failure (8 cases), liver toxicity (1 case), structured therapy interruption (3 cases), or simplification/switch to a PI-sparing regimen (9 cases). Thirty-nine (97.5%) children showed CD4+ T-lymphocyte values>25%, and undetectable viral load was reached in 31 (77.5%) children at last visit. Early treated children displayed significantly lower viral load than not-early treated children, until 6 years of age, and higher median CD4+ T-lymphocyte percentages until 4 years of age. Twenty-seven (29.7%) not-early treated vs. 0/40 early treated children were in clinical category C at last follow-up (P < 0.0001). Conclusion Our findings suggest that clinical, virologic and immunological advantages from early-HAART are long-lasting. Recommendations indicating the long-term management of early treated children are needed.

Published
2009
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49. Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand

Author

Fundación Investigación y Educación en Sida, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Crichton, Siobhan, Belfrage, Eric, Collins, Intira Jeanne, Doerholt, Katja, Judd, Ali, Le Coeur, Sophie, Spoulou, Vana, Goodall, Ruth, Scherpbier, Henriette, Smit, Colette, Goetghebuer, Tessa, Muñoz, Maria José, Grande, Ana, Romero, Francisco Jose, Wensing, A. M. J., Scholvinck, E. H., Mazza, Antonio, Pérez, Carlos, Jiménez de Ory, Santiago, Henriet, S. S., V, Couceiro, José, Bakker, Y., Zaaijer, H. L., de Tejada, Begona Martinez, Wolfs, T. F. W., Lillo, Miguel, Marczynska, Magdalena, Bezemer, M., Santos, Mar, de Jong, A., Losada, Begoña, Cornelissen, M. T. E., van der Meer, R., Niesters, H. G. M., El Berkaoui, A., Gavilán, César, Gloria Andres, Ana, Rius, Neus, Zaheri, S., Marugan, Victor, Neth, Olaf, Piqueras, Ana I., Ochoa, Carlos, Munjishvili, L., Schnorr, P., Breton, Rafael, Strik-Albers, R., Martínez, Jorge, Grivell, S., Delforge, Marc, Wit, F. W. M. N., Bezemer, D. O., Tuijn, E., de Martino, Maurizio, Paling, E., de Groot-de Jonge, H., Koops, J., Lipreri, Rita, Muñoz-Fernández, María Ángeles, Noguera-Julián, Antoni, Tovo, Pier Angelo, van de Sande, L., Patrizia, Osimani, Saavedra-Lozano, Jesús, Di Biagio, Antonio, Montesinos, Elena, Soler-Palacín, Pere, Berkhout, B., Meijering, R., van der Vliet, S., van Aerde, K., Antoinette Frick, Maria, Salvini, Filippo, Verduyn-Lunel, F., Tagliabue, Claudia, Geerlinks, J., Garrote, Elisa, Rovira, Nuria, Tuk, B., Bergsma, D., Pineda, Valentí, Coupland, Urszula, Tomás Ramos, José, Cellini, Monica, Dueñas, Joaquin, Pellegatta, Antonio, Bustillo Alonso, Matilde, Navarro, Maria Luisa, Pajkrt, D., Badolato, Raffaele, Terol, Pedro, Scherpbier, H. J., Garcia Hortelano, Milagros, Beceiro, Jose, Bernardi, Stefania, Weijsenfeld, A. M., Pocheville, Itziar, López, Núria, Doroba, Malgorzata, Schinkel, C. J., Ruiz, Beatriz, Wolthers, K. C., Fraaij, P. L. A., Fernandez Mc Phee, Carolina, Sainz, Talia, Zawadka, Konrad, van Rossum, A. M. C., Romano, Amelia, Fortuny, Claudia, Peeck, B., Mur, Antonio, Gibb, Diana M., Santa Ansone, Vermont, C. L., Alfayate, Santiago, Apilanez, Miren, Kruijne, E., Okhonskaia, Liubov, van der Knaap, L. C., Méndez, María José, Rojo, Pablo, van Leer-Buter, C. C., Rahamat-Langendoen, J., Angulo, Raquel, Ruggeri, Maurizio, Álvarez, Susana, Knoester, M., Back, N. K. T., Lisi, Catiuscia, Bont, L. J., Guerrero, Carmelo, Larovere, Domenico, Mellado, Maria Jose, Herranz, Mercedes, Colino, Elena, Raethke, M., Badillo, Katie, Roa, Miguel Angel, Collado, Pilar, Rutkens, T., Gonzalez-Tome, Maria I., Lo Vecchio, Andrea, Pas, S. D., Falcón Neyra, Lola, Venturini, Elisabetta, de Groot, L., Jareno, Enrique, van den Akker, M., Olmeo, Paolina, Lucas, E., Decker, Luc, Segarra, Inmaculada, Gomez Sirvent, Jorge, Perez, Amparo, Thorne, Claire, Menasalvas, Ana Isabel, Ree, C., Hillebregt, M., Regtop, R., Nauta, N., Faldella, Giacomo, Jourdain, Gonzague, Moreno-Pérez, David, Taramasso, Lucia, Álvarez, Cristina, Reiss, Peter, Ruijs, Y., Baldi, Francesco, Voronin, Evgeny, Boucher, C. A. B., Galli, Luisa, Miguel, E. de, Wisse, A., Miloenko, Milana, Giacomet, Vania, Labutina, Svetlana, Witte, E. C., Consolini, Rita, Smit, C., Hainaut, Marc, Mayol, Lluis, Rampon, Osvalda, Vallmanya, Teresa, Giaquinto, Carlo, Dona, Daniele, Erba, Paola, Dapena, Marta, Calavia, Olga, Veenenberg, L., Montagnani, Carlotta, van de Flier, M., Schuurman, R., Bruzzese, Eugenia, García, Lourdes, Geelen, S. P. M., Coll, María T., Oldakowska, Agnieszka, de Boer, C. G., Genovese, Orazio, Van der Kelen, Evelyne, Blázquez-Gamero, Daniel, Escosa-García, Luis, Jurriaans, S., Dodi, Icilio, Santos, Juan Luis, Prieto, Luís, Perez-Hoyos, Santiago, Lodewijk, C., Guillén, Sara, Koopmans, M. P. G., Ene, Luminita, Visser, E. G., Gabiano, Clara, Garzon, Monica, Kuekou, Hyppolite Tchidjou, Maccabruni, Anna, van Kampen, J. J. A., Roman, Vicente, Esposito, Susanna, Schoorl, M., Gamell, Anna, Cristiano, Letizia, Montesdeoca, Abián, Stelma, F. F., Mateo, Mercedes, Pokorska-Spiewak, Maria, van Sighem, A., I, Woudstra, T., Popielska, Jolanta, Garazzino, Silvia, Lendinez, Francisco, Fundación Investigación y Educación en Sida, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Crichton, Siobhan, Belfrage, Eric, Collins, Intira Jeanne, Doerholt, Katja, Judd, Ali, Le Coeur, Sophie, Spoulou, Vana, Goodall, Ruth, Scherpbier, Henriette, Smit, Colette, Goetghebuer, Tessa, Muñoz, Maria José, Grande, Ana, Romero, Francisco Jose, Wensing, A. M. J., Scholvinck, E. H., Mazza, Antonio, Pérez, Carlos, Jiménez de Ory, Santiago, Henriet, S. S., V, Couceiro, José, Bakker, Y., Zaaijer, H. L., de Tejada, Begona Martinez, Wolfs, T. F. W., Lillo, Miguel, Marczynska, Magdalena, Bezemer, M., Santos, Mar, de Jong, A., Losada, Begoña, Cornelissen, M. T. E., van der Meer, R., Niesters, H. G. M., El Berkaoui, A., Gavilán, César, Gloria Andres, Ana, Rius, Neus, Zaheri, S., Marugan, Victor, Neth, Olaf, Piqueras, Ana I., Ochoa, Carlos, Munjishvili, L., Schnorr, P., Breton, Rafael, Strik-Albers, R., Martínez, Jorge, Grivell, S., Delforge, Marc, Wit, F. W. M. N., Bezemer, D. O., Tuijn, E., de Martino, Maurizio, Paling, E., de Groot-de Jonge, H., Koops, J., Lipreri, Rita, Muñoz-Fernández, María Ángeles, Noguera-Julián, Antoni, Tovo, Pier Angelo, van de Sande, L., Patrizia, Osimani, Saavedra-Lozano, Jesús, Di Biagio, Antonio, Montesinos, Elena, Soler-Palacín, Pere, Berkhout, B., Meijering, R., van der Vliet, S., van Aerde, K., Antoinette Frick, Maria, Salvini, Filippo, Verduyn-Lunel, F., Tagliabue, Claudia, Geerlinks, J., Garrote, Elisa, Rovira, Nuria, Tuk, B., Bergsma, D., Pineda, Valentí, Coupland, Urszula, Tomás Ramos, José, Cellini, Monica, Dueñas, Joaquin, Pellegatta, Antonio, Bustillo Alonso, Matilde, Navarro, Maria Luisa, Pajkrt, D., Badolato, Raffaele, Terol, Pedro, Scherpbier, H. J., Garcia Hortelano, Milagros, Beceiro, Jose, Bernardi, Stefania, Weijsenfeld, A. M., Pocheville, Itziar, López, Núria, Doroba, Malgorzata, Schinkel, C. J., Ruiz, Beatriz, Wolthers, K. C., Fraaij, P. L. A., Fernandez Mc Phee, Carolina, Sainz, Talia, Zawadka, Konrad, van Rossum, A. M. C., Romano, Amelia, Fortuny, Claudia, Peeck, B., Mur, Antonio, Gibb, Diana M., Santa Ansone, Vermont, C. L., Alfayate, Santiago, Apilanez, Miren, Kruijne, E., Okhonskaia, Liubov, van der Knaap, L. C., Méndez, María José, Rojo, Pablo, van Leer-Buter, C. C., Rahamat-Langendoen, J., Angulo, Raquel, Ruggeri, Maurizio, Álvarez, Susana, Knoester, M., Back, N. K. T., Lisi, Catiuscia, Bont, L. J., Guerrero, Carmelo, Larovere, Domenico, Mellado, Maria Jose, Herranz, Mercedes, Colino, Elena, Raethke, M., Badillo, Katie, Roa, Miguel Angel, Collado, Pilar, Rutkens, T., Gonzalez-Tome, Maria I., Lo Vecchio, Andrea, Pas, S. D., Falcón Neyra, Lola, Venturini, Elisabetta, de Groot, L., Jareno, Enrique, van den Akker, M., Olmeo, Paolina, Lucas, E., Decker, Luc, Segarra, Inmaculada, Gomez Sirvent, Jorge, Perez, Amparo, Thorne, Claire, Menasalvas, Ana Isabel, Ree, C., Hillebregt, M., Regtop, R., Nauta, N., Faldella, Giacomo, Jourdain, Gonzague, Moreno-Pérez, David, Taramasso, Lucia, Álvarez, Cristina, Reiss, Peter, Ruijs, Y., Baldi, Francesco, Voronin, Evgeny, Boucher, C. A. B., Galli, Luisa, Miguel, E. de, Wisse, A., Miloenko, Milana, Giacomet, Vania, Labutina, Svetlana, Witte, E. C., Consolini, Rita, Smit, C., Hainaut, Marc, Mayol, Lluis, Rampon, Osvalda, Vallmanya, Teresa, Giaquinto, Carlo, Dona, Daniele, Erba, Paola, Dapena, Marta, Calavia, Olga, Veenenberg, L., Montagnani, Carlotta, van de Flier, M., Schuurman, R., Bruzzese, Eugenia, García, Lourdes, Geelen, S. P. M., Coll, María T., Oldakowska, Agnieszka, de Boer, C. G., Genovese, Orazio, Van der Kelen, Evelyne, Blázquez-Gamero, Daniel, Escosa-García, Luis, Jurriaans, S., Dodi, Icilio, Santos, Juan Luis, Prieto, Luís, Perez-Hoyos, Santiago, Lodewijk, C., Guillén, Sara, Koopmans, M. P. G., Ene, Luminita, Visser, E. G., Gabiano, Clara, Garzon, Monica, Kuekou, Hyppolite Tchidjou, Maccabruni, Anna, van Kampen, J. J. A., Roman, Vicente, Esposito, Susanna, Schoorl, M., Gamell, Anna, Cristiano, Letizia, Montesdeoca, Abián, Stelma, F. F., Mateo, Mercedes, Pokorska-Spiewak, Maria, van Sighem, A., I, Woudstra, T., Popielska, Jolanta, Garazzino, Silvia, and Lendinez, Francisco

Abstract

[Objective]: The aim of this study was to describe growth during puberty in young people with vertically acquired HIV. [Design]: Pooled data from 12 paediatric HIV cohorts in Europe and Thailand. [Methods]: One thousand and ninety-four children initiating a nonnucleoside reverse transcriptase inhibitor or boosted protease inhibitor based regimen aged 1–10 years were included. Super Imposition by Translation And Rotation (SITAR) models described growth from age 8 years using three parameters (average height, timing and shape of the growth spurt), dependent on age and height-for-age z-score (HAZ) (WHO references) at antiretroviral therapy (ART) initiation. Multivariate regression explored characteristics associated with these three parameters. [Results]: At ART initiation, median age and HAZ was 6.4 [interquartile range (IQR): 2.8, 9.0] years and −1.2 (IQR: −2.3 to −0.2), respectively. Median follow-up was 9.1 (IQR: 6.9, 11.4) years. In girls, older age and lower HAZ at ART initiation were independently associated with a growth spurt which occurred 0.41 (95% confidence interval 0.20–0.62) years later in children starting ART age 6 to 10 years compared with 1 to 2 years and 1.50 (1.21–1.78) years later in those starting with HAZ less than −3 compared with HAZ at least −1. Later growth spurts in girls resulted in continued height growth into later adolescence. In boys starting ART with HAZ less than −1, growth spurts were later in children starting ART in the oldest age group, but for HAZ at least −1, there was no association with age. Girls and boys who initiated ART with HAZ at least −1 maintained a similar height to the WHO reference mean. [Conclusion]: Stunting at ART initiation was associated with later growth spurts in girls. Children with HAZ at least −1 at ART initiation grew in height at the level expected in HIV negative children of a comparable age.

Published
2019

50. Pulseless ventricular tachycardia and ventricular fibrillation complicating severe traumatic brain injury in pediatrics.

Author

Piastra, Marco, Tortorolo, Luca, Genovese, Orazio, Morena, Tc, Picconi, Enzo, De Rosa, Gabriella, Conti, Giorgio, Piastra M (ORCID:0000-0002-3144-8970), Tortorolo L (ORCID:0000-0003-4307-8310), Genovese O, Picconi E, De Rosa G (ORCID:0000-0002-8780-5105), Conti G (ORCID:0000-0002-8566-9365), Piastra, Marco, Tortorolo, Luca, Genovese, Orazio, Morena, Tc, Picconi, Enzo, De Rosa, Gabriella, Conti, Giorgio, Piastra M (ORCID:0000-0002-3144-8970), Tortorolo L (ORCID:0000-0003-4307-8310), Genovese O, Picconi E, De Rosa G (ORCID:0000-0002-8780-5105), and Conti G (ORCID:0000-0002-8566-9365)

Abstract

We report a pediatric case-series of malignant ventricular arrhythmias.

Published
2019

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