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5. Increased bronchiolitis burden and severity after the pandemic: a national multicentric study

Author

Ghirardo, Sergio, Ullmann, Nicola, Zago, Alessandro, Ghezzi, Michele, Minute, Marta, Madini, Barbara, D’Auria, Enza, Basile, Cecilia, Castelletti, Francesca, Chironi, Federica, Capodiferro, Agata, Andrenacci, Beatrice, Risso, Francesco Maria, Aversa, Salvatore, Dotta, Laura, Coretti, Antonella, Vittucci, Anna Chiara, Badolato, Raffaele, Amaddeo, Alessandro, Barbi, Egidio, and Cutrera, Renato

Published
2024
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18. 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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23. Correction: Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases

Author

Duse, Marzia, Santamaria, Francesca, Verga, Maria Carmen, Bergamini, Marcello, Simeone, Giovanni, Leonardi, Lucia, Tezza, Giovanna, Bianchi, Annamaria, Capuano, Annalisa, Cardinale, Fabio, Cerimoniale, Giovanni, Landi, Massimo, Malventano, Monica, Tosca, Mariangela, Varricchio, Attilio, Zicari, Anna Maria, Alfaro, Carlo, Barberi, Salvatore, Becherucci, Paolo, Bernardini, Roberto, Biasci, Paolo, Caffarelli, Carlo, Caldarelli, Valeria, Capristo, Carlo, Castronuovo, Serenella, Chiappini, Elena, Cutrera, Renato, De Castro, Giovanna, De Franciscis, Luca, Decimo, Fabio, Iacono, Iride Dello, Diaferio, Lucia, Di Cicco, Maria Elisa, Di Mauro, Caterina, Di Mauro, Cristina, Di Mauro, Dora, Di Mauro, Francesco, Di Mauro, Gabriella, Doria, Mattia, Falsaperla, Raffaele, Ferraro, Valentina, Fanos, Vassilios, Galli, Elena, Ghiglioni, Daniele Giovanni, Indinnimeo, Luciana, Kantar, Ahmad, Lamborghini, Adima, Licari, Amelia, Lubrano, Riccardo, Luciani, Stefano, Macrì, Francesco, Marseglia, Gianluigi, Martelli, Alberto Giuseppe, Masini, Luigi, Midulla, Fabio, Minasi, Domenico, Miniello, Vito Leonardo, Del Giudice, Michele Miraglia, Morandini, Sergio Renzo, Nardini, Germana, Nocerino, Agostino, Novembre, Elio, Pajno, Giovanni Battista, Paravati, Francesco, Piacentini, Giorgio, Piersantelli, Cristina, Pozzobon, Gabriella, Ricci, Giampaolo, Spanevello, Valter, Turra, Renato, Zanconato, Stefania, Borrelli, Melissa, Villani, Alberto, Corsello, Giovanni, Di Mauro, Giuseppe, and Peroni, Diego

Published
2022
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25. Use of Lung Ultrasound in Cystic Fibrosis: Is It a Valuable Tool?

Author

Boni, Alessandra, Cristiani, Luca, Majo, Fabio, Ullmann, Nicola, Esposito, Marianna, Supino, Maria Chiara, Tomà, Paolo, Villani, Alberto, Musolino, Anna Maria, and Cutrera, Renato

Subjects
DISEASE exacerbation, PLEURAL effusions, PULMONARY function tests, BRONCHIECTASIS, DISEASE management, COMPUTED tomography, LUNGS, ATELECTASIS, TREATMENT duration, BRONCHOALVEOLAR lavage, CYSTIC fibrosis, SENSITIVITY & specificity (Statistics), DISEASE complications
Abstract

Cystic fibrosis (CF) is a multisystem disorder characterized by progressive respiratory deterioration, significantly impacting both quality of life and survival. Over the years, lung ultrasound (LUS) has emerged as a promising tool in pediatric respiratory due to its safety profile and ease at the bedside. In the era of highly effective CF modulator therapies and improved life expectancy, the use of non-ionizing radiation techniques could become an integral part of CF management, particularly in the pediatric population. The present review explores the potential role of LUS in CF management based on available data, analyzing all publications from January 2015 to January 2024, focusing on two key areas: LUS in CF pulmonary exacerbation and its utility in routine clinical management. Nonetheless, LUS exhibits a robust correlation with computed tomography (CT) scans and serves as an additional, user-friendly imaging modality in CF management, demonstrating high specificity and sensitivity in identification, especially in consolidations and atelectasis in the CF population. Due to its ability, LUS could be an instrument to monitor exacerbations with consolidations and to establish therapy duration and monitor atelectasis over time or their evolution after therapeutic bronchoalveolar lavage. On the basis of our analysis, sufficient data emerged showing a good correlation between LUS score and respiratory function tests. Good sensitivity and specificity of the methodology have been found in rare CF pulmonary complications such as effusion and pneumothorax. Regarding its use in follow-up management, the literature reports a moderate correlation between LUS scores and the type, extent, and CT severity score of bronchiectasis. A future validation of ultrasound scores specifically in CF patients could improve the use of LUS to identify pulmonary exacerbations and monitor disease progression. However, further research is needed to comprehensively establish the role of LUS in the CF population, particularly in elucidating its broader utility and long-term impact on patient care. [ABSTRACT FROM AUTHOR]

Published
2024
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26. National Survey on Pediatric Respiratory Physiotherapy Units: Primary Ciliary Dyskinesia and Non-CF Bronchiectasis

Author

Tani, Beatrice, primary, Ullmann, Nicola, additional, Leone, Paola, additional, Boni, Alessandra, additional, Barbieri, Eugenio, additional, D'Angelo, Matteo, additional, De Dominicis, Sara, additional, Giacomodonato, Beniamino, additional, Monduzzi, Stefania, additional, Piermarini, Irene, additional, Pizziconi, Chiara, additional, Ferrari, Beatrice, additional, and Cutrera, Renato, additional

Published
2024
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28. Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

Author

Salerno, Teresa, Peca, Donatella, Menchini, Laura, Schiavino, Alessandra, Boldrini, Renata, Esposito, Fulvio, Danhaive, Olivier, and Cutrera, Renato

Subjects
Paediatrics, Biomedical and Clinical Sciences, Pediatric, Genetics, Infant Mortality, Lung, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Respiratory, Child, Preschool, Diagnosis, Differential, Diagnostic Imaging, Female, Humans, Infant, Lung Diseases, Interstitial, Male, Mutation, Phenotype, Pulmonary Surfactant-Associated Protein C, Surfactant protein C, SP-C surfactant protein C gene, Children interstitial lung disease children, Paediatrics and Reproductive Medicine, Pediatrics
Abstract

BackgroundMonoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported.Case presentationWe describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.ConclusionsThe disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.

Published
2016

30. 24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.

Author

Leoncini, Silvia, Boasiako, Lidia, Di Lucia, Sofia, Beker, Amir, Scandurra, Valeria, Vignoli, Aglaia, Canevini, Maria Paola, Prato, Giulia, Nobili, Lino, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Testa Chiarini, Maria Beatrice, Cutrera, Renato, Grosso, Salvatore, Lazzeri, Giacomo, Tongiorgi, Enrico, Morano, Pasquale, Botteghi, Matteo, Barducci, Alessandro, and De Felice, Claudio

Subjects
RETT syndrome, FATIGUE (Physiology), WEARABLE technology, PARASYMPATHETIC nervous system, SYMPATHETIC nervous system, CANCER fatigue
Abstract

Background: Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients. Methods: A total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7–35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L’Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients’ contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated. Results: Of the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03–82%)] and HR/LF [median: 3.75 (interquartile range 3.19–5.05)] were elevated, independent from the wake–sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing. Conclusion: Our findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Critical reappraisal of short-acting bronchodilators for pediatric respiratory diseases.

Author

Licari, Amelia, Manti, Sara, Mastellone, Francesco, Miraglia Del Giudice, Michele, Marseglia, Gian Luigi, Tosca, Maria Angela, Andrenacci, Beatrice, Capristo, Carlo, Cutrera, Renato, Di Cicco, Maria Elisa, Fierro, Vincenzo, Leone, Maddalena, Naso, Matteo, Pezone, Ilaria, and Trincianti, Chiara

Subjects
PARASYMPATHOMIMETIC agents, HEALTH literacy, RESPIRATORY organ sounds, PATIENT safety, BRONCHIOLE diseases, RESPIRATORY diseases, TREATMENT duration, TREATMENT effectiveness, PEDIATRICS, BRONCHODILATOR agents, ASTHMA, CHILDREN
Abstract

Short-acting bronchodilators are a class of medications commonly used to treat asthma, chronic obstructive pulmonary disease, and other respiratory conditions. The use of these medications has evolved over time as we have gained a better understanding of their effectiveness and safety in the pediatric population. This comprehensive review synthesizes the current understanding of short-acting β2-agonists and short-acting anticholinergics in children. It addresses indications, contraindications, safety considerations, and highlights areas where further research is needed to guide the most effective use of short-acting bronchodilators. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Whooping Cough Cases Increase in Central Italy after COVID-19 Pandemic.

Author

Linardos, Giulia, Coltella, Luana, Ranno, Stefania, Di Maio, Velia Chiara, Colagrossi, Luna, Pandolfi, Elisabetta, Chiarini Testa, Maria Beatrice, Genuini, Leonardo, Stoppa, Francesca, Di Nardo, Matteo, Grandin, Annalisa, Cutrera, Renato, Cecchetti, Corrado, Villani, Alberto, Raponi, Massimiliano, Bernaschi, Paola, Russo, Cristina, Perno, Carlo Federico, and Scutari, Rossana

Subjects
WHOOPING cough, COVID-19 pandemic, RESPIRATORY insufficiency, COUGH, CHILD patients, RESPIRATORY infections
Abstract

Pertussis continues to be a highly contagious respiratory infection, especially in children, with cyclical peaks of disease spread every three to five years. Here, we report relevant cases of B. pertussis infection between August 2023 and January 2024, and compare them with B. pertussis prevalence in pediatric patients admitted to the Reference Italian Pediatric Hospital, located in Rome, from January 2015 to July 2023. A total of 5464 tests for B. pertussis were performed during the study period, and 6.9% were positive. At the time of the COVID-19 pandemic, there was a sharp decrease in the presence of B. pertussis, which reappeared only in August 2023, recording five new cases. All five children presented with paroxysmal cough 5 to 10 days before admission. Four patients had other mild respiratory symptoms and moderate B. pertussis DNA levels (Ct mean: 26). Only one child, with very high B. pertussis DNA levels (Ct: 9), presented with severe respiratory failure. The patients with mild/moderate infection achieved clinical recovery while the patient with the severe manifestation died of cardiac arrest. These observations highlight the reemergence of pertussis even in vaccinated countries and its association with morbidity and mortality especially in young children. This emphasizes the importance of rapid diagnosis to immediately implement appropriate treatment and monitoring of immune status. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen

Author

Sansone, Valeria A., Pirola, Alice, Albamonte, Emilio, Pane, Marika, Lizio, Andrea, D'Amico, Adele, Catteruccia, Michela, Cutrera, Renato, Bruno, Claudio, Pedemonte, Marina, Messina, Sonia, Rao, Fabrizio, Roma, Elisabetta, Salmin, Francesca, Coratti, Giorgia, Di Bari, Alessandra, De Sanctis, Roberto, Pera, Maria Carmela, Sframeli, Maria, Piastra, Marco, Macagno, Francesco, Vita, Giuseppe, Bertini, Enrico, and Mercuri, Eugenio

Published
2020
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35. Hypoventilation in a case of congenital Rett syndrome

Author

Ghirardo, Sergio, primary, Sabatini, Letizia, additional, Onofri, Alessandro, additional, Testa, Beatrice Chiarini, additional, Paglietti, Maria Giovanna, additional, Diodato, Daria, additional, Atti, Marta Ciofi degli, additional, Cherchi, Claudio, additional, and Cutrera, Renato, additional

Published
2024
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36. Longitudinal Effects of Elexacaftor/Tezacaftor/Ivacaftor

Author

Graziano, Sonia, primary, Boldrini, Francesca, additional, Pellicano, Gaia Romana, additional, Milo, Francesco, additional, Majo, Fabio, additional, Cristiani, Luca, additional, Montemitro, Enza, additional, Alghisi, Federico, additional, Bella, Sergio, additional, Cutrera, Renato, additional, Fiocchi, Alessandro Giovanni, additional, Quittner, Alexandra, additional, and Tabarini, Paola, additional

Published
2023
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37. Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases

Author

Duse, Marzia, Santamaria, Francesca, Verga, Maria Carmen, Bergamini, Marcello, Simeone, Giovanni, Leonardi, Lucia, Tezza, Giovanna, Bianchi, Annamaria, Capuano, Annalisa, Cardinale, Fabio, Cerimoniale, Giovanni, Landi, Massimo, Malventano, Monica, Tosca, Mariangela, Varricchio, Attilio, Zicari, Anna Maria, Alfaro, Carlo, Barberi, Salvatore, Becherucci, Paolo, Bernardini, Roberto, Biasci, Paolo, Caffarelli, Carlo, Caldarelli, Valeria, Capristo, Carlo, Castronuovo, Serenella, Chiappini, Elena, Cutrera, Renato, De Castro, Giovanna, De Franciscis, Luca, Decimo, Fabio, Iacono, Iride Dello, Diaferio, Lucia, Di Cicco, Maria Elisa, Di Mauro, Caterina, Di Mauro, Cristina, Di Mauro, Dora, Di Mauro, Francesco, Di Mauro, Gabriella, Doria, Mattia, Falsaperla, Raffaele, Ferraro, Valentina, Fanos, Vassilios, Galli, Elena, Ghiglioni, Daniele Giovanni, Indinnimeo, Luciana, Kantar, Ahmad, Lamborghini, Adima, Licari, Amelia, Lubrano, Riccardo, Luciani, Stefano, Macrì, Francesco, Marseglia, Gianluigi, Martelli, Alberto Giuseppe, Masini, Luigi, Midulla, Fabio, Minasi, Domenico, Miniello, Vito Leonardo, del Giudice, Michele Miraglia, Morandini, Sergio Renzo, Nardini, Germana, Nocerino, Agostino, Novembre, Elio, Pajno, Giovanni Battista, Paravati, Francesco, Piacentini, Giorgio, Piersantelli, Cristina, Pozzobon, Gabriella, Ricci, Giampaolo, Spanevello, Valter, Turra, Renato, Zanconato, Stefania, Borrelli, Melissa, Villani, Alberto, Corsello, Giovanni, Di Mauro, Giuseppe, and Peroni, Diego

Published
2021
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38. Prevention of recurrent respiratory infections: Inter-society Consensus

Author

Chiappini, Elena, Santamaria, Francesca, Marseglia, Gian Luigi, Marchisio, Paola, Galli, Luisa, Cutrera, Renato, de Martino, Maurizio, Antonini, Sara, Becherucci, Paolo, Biasci, Paolo, Bortone, Barbara, Bottero, Sergio, Caldarelli, Valeria, Cardinale, Fabio, Gattinara, Guido Castelli, Ciarcià, Martina, Ciofi, Daniele, D’Elios, Sofia, Di Mauro, Giuseppe, Doria, Mattia, Indinnimeo, Luciana, Lo Vecchio, Andrea, Macrì, Francesco, Mattina, Roberto, Miniello, Vito Leonardo, del Giudice, Michele Miraglia, Morbin, Guido, Motisi, Marco Antonio, Novelli, Andrea, Palamara, Anna Teresa, Panatta, Maria Laura, Pasinato, Angela, Peroni, Diego, Perruccio, Katia, Piacentini, Giorgio, Pifferi, Massimo, Pignataro, Lorenzo, Sitzia, Emanuela, Tersigni, Chiara, Torretta, Sara, Trambusti, Irene, Trippella, Giulia, Valentini, Diletta, Valentini, Sandro, Varricchio, Attilio, Verga, Maria Carmen, Vicini, Claudio, Zecca, Marco, and Villani, Alberto

Published
2021
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39. ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

Author

Peca, Donatella, Cutrera, Renato, Masotti, Andrea, Boldrini, Renata, and Danhaive, Olivier

Subjects
Biochemistry and Cell Biology, Biological Sciences, Pediatric, Lung, Neonatal Respiratory Distress, Genetics, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Aetiology, 2.1 Biological and endogenous factors, Respiratory, ATP-Binding Cassette Transporters, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Humans, Infant, Newborn, Mutation, Pulmonary Surfactants, Respiratory Distress Syndrome, Newborn, genetics, interstitial lung disease, neonate, respiratory distress syndrome, surfactant, ultrastructure, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology
Abstract

Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies (LBs). Its expression is developmentally regulated, peaking prior to birth under the influence of steroids and transcription factors. Bi-allelic mutations of the ABCA3 gene represent the most frequent cause of congenital surfactant deficiency, indicating its critical role in lung function. Mutations affect surfactant lipid and protein processing and LBs' morphology, leading to partial or total surfactant deficiency. Approximately 200 mutations have been reported, most of which are unique to individuals and families, which makes diagnosis and prognosis challenging. Various types of mutations, affecting different domains of the protein, account in part for phenotype diversity. Disease-causing mutations have been reported in most coding and some non-coding regions of the gene, but tend to cluster in the first extracellular loop and the second nucleotide-binding domain (NBD), leading to defective glycosylation and trafficking defects and interfering with ATP binding and hydrolysis respectively. Mono-allelic damaging and benign variants are often subclinical but may act as disease modifiers in lung diseases such as RDS of prematurity or associate with mutations in other surfactant-related genes. Diagnosis is complex but essential and should combine pathology and ultrastructure studies on lung biopsy with broad-spectrum genetic testing of surfactant-related genes, made possible by recent technology advances in the massive parallel sequencing technology.

Published
2015

40. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Author

Peca, Donatella, Boldrini, Renata, Johannson, Jan, Shieh, Joseph T, Citti, Arianna, Petrini, Stefania, Salerno, Teresa, Cazzato, Salvatore, Testa, Raffaele, Messina, Francesco, Onofri, Alfredo, Cenacchi, Giovanna, Westermark, Per, Ullman, Nicola, Cogo, Paola, Cutrera, Renato, and Danhaive, Olivier

Subjects
Paediatrics, Biological Sciences, Biomedical and Clinical Sciences, Infant Mortality, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Pediatric, Genetics, Lung, Neonatal Respiratory Distress, 2.1 Biological and endogenous factors, Aetiology, Respiratory, Adult, Biopsy, Child, Female, Heterozygote, Humans, Infant, Newborn, Lung Diseases, Interstitial, Male, Microscopy, Electron, Transmission, Mutation, Phenotype, Protein C, Pulmonary Surfactant-Associated Protein C, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Genetic defects of surfactant metabolism are associated with a broad range of clinical manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease. Early therapies may improve symptoms but diagnosis is often delayed owing to phenotype and genotype variability. Our objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in children with idiopathic diffuse lung diseases. We sequenced SFTPC - the gene encoding SP-C - SFTPB and ABCA3, and analyzed morphology, ultrastructure and SP expression in lung tissue when available. We identified eight subjects who were heterozygous for SP-C mutations. Median age at onset and clinical course were variable. None of the mutations were located in the mature peptide-encoding region, but were either in the pro-protein BRICHOS or linker C-terminal domains. Although lung morphology was similar to other genetic surfactant metabolism disorders, electron microscopy studies showed specific anomalies, suggesting surfactant homeostasis disruption, plus trafficking defects in the four subjects with linker domain mutation and protein misfolding in the single BRICHOS mutation carrier in whom material was available. Immunolabeling studies showed increased proSP-C staining in all cases. In two cases, amyloid deposits could be identified. Immunochemistry and ultrastructural studies may be useful for diagnostic purposes and for genotype interpretation.

Published
2015

43. Identification of the blaOXA-23 Gene in the First Mucoid XDR Acinetobacter baumannii Isolated from a Patient with Cystic Fibrosis

Author

Rossitto, Martina, primary, Vrenna, Gianluca, additional, Tuccio Guarna Assanti, Vanessa, additional, Essa, Nour, additional, De Santis, Maria Luisa, additional, Granaglia, Annarita, additional, Fini, Vanessa, additional, Costabile, Valentino, additional, Onori, Manuela, additional, Cristiani, Luca, additional, Boni, Alessandra, additional, Cutrera, Renato, additional, Perno, Carlo Federico, additional, and Bernaschi, Paola, additional

Published
2023
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48. 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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49. Diaphragmatic dysfunction in SEPN1-related myopathy

Author

Caggiano, Serena, Khirani, Sonia, Dabaj, Ivana, Cavassa, Eliana, Amaddeo, Alessandro, Arroyo, Jorge Olmo, Desguerre, Isabelle, Richard, Pascale, Cutrera, Renato, Ferreiro, Ana, Estournet, Brigitte, Quijano-Roy, Susana, and Fauroux, Brigitte

Published
2017
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