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5. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

Author

Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, Franco, Plebani, A., Pignata, C., Locatelli F. (ORCID:0000-0002-7976-3654), Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, Franco, Plebani, A., Pignata, C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Medical advances have dramatically improved the long-term prognosis of children and adolescents with inborn errors of immunity (IEIs). Transfer of the medical care of individuals with pediatric IEIs to adult facilities is also a complex task because of the large number of distinct disorders, which requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in the literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult health care services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network centers formulated and answered questions after examining the currently published literature on the transition from childhood to adulthood. The authors voted on each recommendation. The most frequent IEIs sharing common main clinical problems requiring full attention during the transitional phase were categorized into different groups of clinically related disorders. For each group of clinically related disorders, physicians from major Italian Primary Immunodeficiency Network institutions focused on selected clinical issues representing the clinical hallmark during early adulthood.

Published
2020

7. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184

Author

Cifaldi, C, Brigida, I, Barzaghi, F, Zoccolillo, M, Ferradini, V, Petricone, D, Cicalese, Mp, Lazarevic, D, Cittaro, D, Omrani, M, Attardi, E, Conti, F, Scarselli, A, Chiriaco, M, Cesare, Sd, Licciardi, F, Davide, M, Ferrua, F, Canessa, C, Pignata, C, Giliani, S, Ferrari, S, Fousteri, G, Barera, G, Merli, P, Palma, P, Cesaro, S, Gattorno, M, Trizzino, A, Moschese, V, Chini, L, Villa, A, Azzari, C, Finocchi, A, Locatelli, F, Rossi, P, Sangiuolo, F, Aiuti, A, Cancrini, C, and Di Matteo, G

Subjects
Settore MED/38 - Pediatria Generale e Specialistica, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, primary immunodeficiencies
Published
2019

8. Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316)

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Cesare, S. D., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., and Di Matteo, G.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, Settore MED/38, primary immunodeficiencies
Published
2019

10. Noncoordinated expression of alpha-, beta-, and gamma-subunit mRNAs of epithelial Na+ channel along rat respiratory tract

Author

Farman, N., Talbot, C.R., Boucher, R., Fay, M., Canessa, C., Rossier, B., and Bonvalet, J.P.

Subjects
Epithelial cells -- Physiological aspects, Sodium channels -- Physiological aspects, Respiratory organs -- Physiological aspects, Biological sciences
Abstract

Rat upper airway epithelial cells were analyzed by in sifu hybridization to determine the prevalence of rat epithelial Na2+ channel (rENaC) alpha-, beta- and gamma-subunit messenger ribonucleic acid (mRNA) expression. Analysis of amiloride-sensitive ENaC mRNA expression in rat epithelial cells indicated the presence of high levels of ENaC alpha-subunits. Rat superficial epithelium from the nose and trachea also expressed ENaC gamma-subunits with little beta-subunit mRNA expression.

Published
1997

11. Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., Locatelli F. (ORCID:0000-0002-7976-3654), Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders. Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes. Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology. Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage. Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successful

Published
2019

12. Lung epithelial Na channel subunits are differentially regulated during development and by steroids

Author

Tchepichev, S., Ueda, J., Canessa, C., Rossier, B.C., and O'Brodovich, H.

Subjects
Lungs -- Research, Fetus -- Growth, Epithelial cells -- Observations, Biological sciences
Abstract

Differential regulation of alpha-, beta- and gamma-subunits of rat lung epithelial Na channel (rENaC) occurs during normal fetal development. Pseudoglandular stage lungs do not show all three subunits. During later canalicular and saccular stages of lung development, alpha-rENaC subunit is expressed in significant amounts. There is a decrease in mRNA levels of alpha-rENaC subunit during the first week after birth. The levels increase later on to adult levels.

Published
1995

13. Expression of the epithelial Na+ channel in the developing rat lung

Author

O'Brodovich, H., Canessa, C., Ueda, J., Rafii, B., Rossier, B.C., and Edelson, J.

Subjects
Rats -- Research, Thyroid hormones -- Influence, Sodium channels -- Physiological aspects, Biological sciences
Abstract

Hormones that cause variations in the fetal lung have an impact on adult rat colonic epithelial Na+ channel (alpha-r-ENaC), which is expressed in adult alveolar epithelium and mature fetal epithelium. During the saccular stage of lung development, increased mRNA levels were observed while it was low in the gestational age. The salt-deprived rat colonic epithelium and the lung alpha-r-ENaC are similar.

Published
1993

21. Calidad en el posgrado

Author

Villegas, Abelardo, primary, Pisanty Baruch, Alejandro, additional, Rugarcía Torres, Armando, additional, Canessa C., Guido, additional, Villa Rivera, José Enrique, additional, Abraham, José Miguel, additional, and Martínez Martínez, Manuel, additional

Published
2018
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22. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

23. Potential serotype coverage of three pneumococcal conjugate vaccines against invasive pneumococcal infection in Italian children

Author

Azzari, Chiara, Moriondo, Maria, Cortimiglia, Martina, Valleriani, C, Canessa, C, Indolfi, G, Ricci, S, De Martino, Maurizio, Resti, M, Collaborators: Agostiniani R, Italian group for the study of Invasive Pneumococcal D. i. s. e. a. s. e., Allievi, P, Allù, G, Amigoni, A, Bernardi, P, Bernardini, R, Biban, P, Bigi, M, Boldrini, A, Bossi, G, Bottone, U, Cardinale, A, Cardona, A, Castronari, R, Celandroni, A, Chiossi, M, Colleselli, P, Correra, A, D'Ascola, G, D'Aquino, A, De Benedictis FM, Dini, E, Dollfus, L, Domenici, R, Flacco, V, Furbetta, M, Gaetti, Mt, Gagliardi, L, Giani, I, Giglio, P, Guala, A, Lanari, M, Lippi, F, Lizzoli, C, Lombardi, E, Macchia, Pa, Magnini, M, Memmini, G, Mesirca, P, Micheletti, E, Migliozzi, L, Nunziata, F, Pecile, P, Pepe, G, Perferi, G, Peris, A, Perri, Pf, Pescollderungg, L, Pezzati, M, Poggi, Giovanni Maria, Prato, R, Principi, N, Rapisardi, G, Regoli, M, Riva, A, Rizzo, L, Roman, B, Toffolo, A, Strano, M, Trapani, Sandra, Vasarri, P, Vascotto, M, Vecchi, V, Ventura, A, Verini, M, Zorzi, C., Azzari, Chiara, Moriondo, Maria, Cortimiglia, Martina, Valleriani, Claudia, Canessa, Clementina, Indolfi, Giuseppe, Ricci, Silvia, Nieddu, Francesco, de Martino, Maurizio, Resti, Massimo, Italian group for the study of Invasive Pneumococcal Disease [, Lanari, Marcello, and ]

Subjects
Pneumococcal Vaccine, Male, Serotype, medicine.medical_specialty, Adolescent, Sepsi, Vaccination schedule, Longitudinal Studie, Bacteremia, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Pneumococcal Vaccines, Sepsis, Internal medicine, Streptococcus pneumoniae, medicine, Humans, Longitudinal Studies, Serotyping, Child, Vaccines, Conjugate, Bacterial disease, General Veterinary, General Immunology and Microbiology, Meningitis, Pneumococcal, business.industry, Public Health, Environmental and Occupational Health, Infant, medicine.disease, Pneumonia, Infectious Diseases, Italy, Child, Preschool, Pneumococcal pneumonia, Immunology, Molecular Medicine, Female, business, Meningitis, Human
Abstract

Background and aim of the work Since the introduction of the 7-valent vaccine, invasive pneumococcal disease have greatly decreased; however, changes in the distribution of pneumococcal serotypes have recently highlighted the need for vaccines with wider coverage. The aim of the work was to assess the potential serotype coverage of three pneumococcal conjugate vaccines (7-, 10- and 13-valent) against bacteremic pneumococcal pneumonia and meningitis/sepsis in Italian children. Patients and methods We determined pneumococcal serotypes in immunocompetent patients who had been admitted to hospital with suspicion of invasive bacterial disease and had confirmed bacteremic pneumococcal pneumonia or meningitis/sepsis determined by molecular detection of Streptococcus pneumoniae in a normally sterile site. Positive samples were serotyped using Realtime-PCR. Results Between April 2008 and March 2011, a total of 144 patients (age median 4.1 years; Interquartile range 1.8–5.6) with pneumococcal meningitis/sepsis (n = 43) or pneumonia (n = 101) from 83 participating centers located in 19 of 20 Italian regions were serotyped. The 10 most prevalent serotypes were 1 (29.9%), 3 (16.0%), 19A (13.2%), 7F (8.3%), 5 (4.2%), 14 (4.2%), 6A (3.5%), 6B (3.5%), 18C (3.5%), 19F (3.5%). Overall, serotype coverage for PCV-7, -10 and -13 were respectively 19.4%, 61.8% and 94.4% with no statistical difference between pneumonia and meningitis/sepsis. Potential coverage was similar for children 0–2 or 2–5 years of age. Cultures resulted positive in 35/99 (35.4%) samples simultaneously obtained for both culture and RT-PCR. Conclusion These findings indicate that increasing the potential serotype coverage by introducing PCV13 in the vaccination schedule for infancy could provide substantial added benefit for protection from pneumococcal pneumonia or meningitis/sepsis in Italy in children below 2 years as well in older children. The importance of molecular methods for diagnosis and serotyping of invasive pneumococcal disease was confirmed.

Published
2012
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25. Calidad en el posgrado

Author

José Miguel Abraham, José Enrique Villa Rivera, Manuel Martínez Martínez, Alejandro Pisanty Baruch, Armando Rugarcía Torres, Abelardo Villegas, and Guido Canessa C.

Subjects
General Chemistry, Education
Abstract

Para evitar los problemas de significado propios de palabras polisémicas y empezar a acotar este escrito en congruencia con su titulo, diré que la calidad es un juicio que se establece cuando un producto cubre ciertas especificaciones que se consideran valiosas en cierto sentido.

Published
2018
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26. Community acquired bacteremic pneumococcal pneumonia in children: diagnosis and serotyping by real time polymerase chain reaction using blood samples

Author

Resti M, Moriondo M, Cortimiglia M, Indolfi G, Canessa C, Becciolini L, Bartolini E, Maria de Benedictis F, de Martino M, Azzari C, Italian Group for the Study of Invasive Pneumococcal Disease, VENTURA, ALESSANDRO, Resti, M, Moriondo, M, Cortimiglia, M, Indolfi, G, Canessa, C, Becciolini, L, Bartolini, E, Maria de Benedictis, F, de Martino, M, Azzari, C, Italian Group for the Study of Invasive Pneumococcal, Disease, and Ventura, Alessandro

Subjects
pneumococcal pneumonia, children
Published
2010

29. Community‐acquired bacteremic pneumococcal pneumonia in children: diagnosis and serotyping by real‐time polymerase chain reaction using blood samples

Author

Resti, M., Moriondo, M., Cortimiglia, M., Indolfi, G., Canessa, C., Becciolini, L., Bartolini, E., De Benedictis, F. M., De Martino, M., Azzari, C., Agostiniani, R, Allievi, P, Allù, G, Amigoni, A, Baldo, E, Barlocco, G, Bernardi, P, Bernardini, R, Biban, P, Bossi, G, Bottone, U, Cardinale, A, Cardona, A, Castelli Gattinara, G, Celandroni, A, Chiossi, M, Colleselli, P, Correra, A, D'Ascola, G, D'Aquino, A, Dollfus, L, Domenici, R, Flacco, V, Furbetta, M, Gaetti, Mt, Gagliardi, L, Ghiori, F, Giani, I, Giglio, P, Guala, A, Icardi, G, Lanari, M, Lippi, F, Lizzoli, C, Lombardi, E, Macchia, Pa, Magnini, M, Memmini, G, Mesirca, P, Micheletti, E, Migliozzi, L, Nunziata, F, Osimani, P, Paravati, D, Pecile, P, Pepe, G, Peris, A, Perri, Pf, Pescollderungg, L, Pezzati, M, Poggi, Gm, Poggiolesi, C, Prato, R, Principi, N, Rapisardi, G, Ridi, F, Riva, A, Rizzo, L, Roman, B, Toffolo, A, Strano, M, Trapani, S, Vasarri, P, Vascotto, M, Vecchi, V, Ventura, A, Verini, M, Zorzi, C., Resti, Massimo, Moriondo, Maria, Cortimiglia, Martina, Indolfi, Giuseppe, Canessa, Clementina, Becciolini, Laura, Bartolini, Elisa, de Benedictis, Fernando Maria, de Martino, Maurizio, Azzari, Chiara, Italian Group for the, Study of Invasive Pneumococcal Disease, and Lanari, M.

Subjects
Microbiology (medical), Male, medicine.medical_specialty, Adolescent, Bacteremia, medicine.disease_cause, Polymerase Chain Reaction, Parapneumonic effusion, Community-acquired pneumonia, Bacterial Typing Technique, Internal medicine, Streptococcus pneumoniae, medicine, Humans, Community-Acquired Infection, Serotyping, Preschool, Child, business.industry, Bacterial pneumonia, Infant, Newborn, Infant, Odds ratio, Pneumonia, Pneumonia, Pneumococcal, medicine.disease, Newborn, Bacterial Typing Techniques, Community-Acquired Infections, Infectious Diseases, Blood, Italy, Child, Preschool, Pneumococcal pneumonia, Immunology, Pneumococcal, Female, business, Human
Abstract

Background. The aim of this study was to use real-time polymerase chain reaction (RT-PCR) on blood samples to diagnose and serotype pneumococcal infection in a large cohort of Italian children hospitalized for community-acquired pneumonia. Methods. We conducted an observational study from April 2007 through June 2009 of children aged 0-16 years with a diagnosis of community-acquired pneumonia admitted to 83 pediatric hospitals in Italy. Results. Seven hundred fifty-three children were studied. RT-PCR found pneumococcal infection in 80 (10.6%) of 753 patients. In 292 patients, culture and RT-PCR were simultaneously performed. Streptococcus pneumoniae was identified in 47 of 292 patients; 45 (15.4%) tested positive by RT-PCR and 11 (3.8%) tested positive by culture. RT-PCR was significantly more sensitive than culture in revealing bacteremic pneumonia (odds ratio, 30.6; 95% confidence interval, 5.8-97.5; P < .001). Complicated pneumonia was found in 162 (21.5%) of 753 children; 152 (93.8%) of these 162 had parapneumonic effusion, and 51 (33.6%) had empyema. Children with complicated pneumonia were significantly older. Pneumococcal bacteremia was found by RT-PCR to occur significantly more frequently in children with complications (38 [23.5%] of 162) than in children with uncomplicated pneumonia (44 [7.4%] of 591; odds ratio, 3.8; 95% confidence interval, 2.30-6.30; P

Published
2010

30. Streptococcus pneumoniae: elusive mechanisms of the body?s defense systems

Author

Bondi, T, Canessa, C, Lippi, F, Iacopelli, J, Nieddu, F, Azzari, C, Bondi, T, Canessa, C, Lippi, F, Iacopelli, J, Nieddu, F, and Azzari, C

Abstract

Streptococcus pneumoniae is one of the most important human pathogens. It represents the most frequent cause of pneumonia, meningitis, sinusitis and otitis. After the PCV7 vaccine introduction, a serotypic switch was noticed. This phenomenon led to the replacement of the seven sero- types contained in the vaccine with other less common ones, some of which are invasive or characterised by antibiotic-resistance. This replacement is only partially due to the vaccination. Many causes have been suggested to explain this effect: apearance of new serotypes, diffusion of minority serotypes and replacement of common serotypes due to natural secular trend. Pneumococcus has a promiscuous ?sex life?, characterized by homologous recombinations within the same species and also between different species. This fact can unlock the secret of how these pathogens can develop antibiotic or vaccine-resistanceThe serotypic switch involves big loci that are responsible for capsular polysaccharide synthesis. The most important region of the genome involved in this process is near the gene tetM. The same mechanisms are also responsible for antibiotic resist- ance. In recent years the growth of penicillin, macrolides and clindamycine resistance has been noticed. It is also important to underline that multidrug-resistant bacteria isolation has increased. In conclusion, to obtain more information about bacteria compo- sition and evolution, antibiotic-resistance and vaccine response, it is fundamental to improve the epidemiological surveillance of pneumococcal infections using modern molecular diagnostic techinques. The full article is free available on www.jpmh.org

Published
2012

31. Sodium transport systems in human chondrocytes. II. Expression of ENaC, Na+/K+/2Cl- cotransporter and Na+/H+ exchangers in healthy and arthritic chondrocytes

Author

Trujillo, E., Alvarez La Rosa, D., Ali Mobasheri, González, T., Canessa, C. M., and Martín-Vasallo, P.

Subjects
Arthritis, Rheumatoid, Chondrocytes, Sodium-Hydrogen Exchangers, Sodium-Potassium-Chloride Symporters, Osteoarthritis, Sodium, Humans, Protein Isoforms, Carrier Proteins, Epithelial Sodium Channels, Sodium Channels
Abstract

In this article, the second of two, we continue our studies of sodium-dependent transport systems in human cartilage from healthy individuals and with osteoarthritis (OA) and rheumatoid arthritis (RA). We demonstrate the presence of the epithelial sodium channel (ENaC), previously undescribed in chondrocytes. This system is composed of three subunits, alpha, beta and gamma. We have shown that the human chondrocytes express at least the alpha and the beta subunit of ENaC. The expression of these subunits is altered in arthritic chondrocytes. In RA samples the quantity of alpha and beta is significantly higher than in control samples. On the other hand, ENaC alpha and beta subunits are absent in the chondrocytes of OA cartilage. Human chondrocytes also possess three isoforms of the Na+/H+ exchanger (NHE), NHE1, NHE2 and NHE3. The NHE system is composed of a single protein and is believed to participate in intracellular pH regulation. Furthermore, our studies indicate that at least one isoform of the electroneutral Na+/K+/2Cl- cotransporter (NKCC) is present in human chondrocytes. There are no obvious variations in the relative expression of NHE isoforms or NKCC between healthy and arthritic cartilage. Our data suggests that chondrocytes from arthritic cartilage may adapt to changes in their environmental sodium concentration through variations in ENaC protein levels. ENaC is also likely to serve as a major sodium entry mechanism, a process that, along with cytoskeletal proteins, may be part of mechanotransduction in cartilage.

Published
1999

46. Bcgitis and Vaccine-Derived Poliovirus Infection in a Patient with a Novel Deletion in RAG1Binding Site

Author

Canessa, C., Romano, F., Lippi, F., Bianchi, L., Kashef, S., Rezaei, N., Moriondo, M., Nieddu, F., Martini, M., and Azzari, C.

Abstract

A girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1. A neonatal screening program for SCID would identify affected infants at birth, before live vaccines are administered.

Published
2013
Full Text
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47. Epithelial sodium channels.

Author

Rossier, Bernard C., Canessa, Cecilia M., Schild, Laurent, Horisberger, Jean-Daniel, Rossier, B C, Canessa, C M, Schild, L, and Horisberger, J D

Published
1994
Full Text
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