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29 results on '"Ferraris, Silvio"'

1. Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment

Author

Palmieri, Viviana Valeria, Lonero, Antonella, Bocchini, Sarah, Cassano, Gilda, Convertino, Alessio, Corica, Domenico, Crinò, Antonio, Fattorusso, Valentina, Ferraris, Silvio, Fintini, Danilo, Franzese, Adriana, Grugni, Graziano, Iughetti, Lorenzo, Lia, Rosanna, Macchi, Francesca, Madeo, Simona Filomena, Matarazzo, Patrizia, Nosetti, Luana, Osimani, Sara, Pajno, Roberta, Patti, Giuseppa, Pellegrin, Maria Chiara, Perri, Annamaria, Ragusa, Letizia, Rutigliano, Irene, Sacco, Michele, Salvatoni, Alessandro, Scarano, Emanuela, Stagi, Stefano, Tornese, Gianluca, Trifirò, Giuliana, Wasniewska, Malgorzata, Fischetto, Rita, Giordano, Paola, Licenziati, Maria Rosaria, and Delvecchio, Maurizio

Published
2019
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2. Italian pediatric nutrition survey

Author

Abate, Rosaria, Accorsi, Paola, Aidala, Enrico, Amarri, Sergio, Ancora, Gina, Angelotti, Luisella, Annibali, Roberta, Antonini Monica, Antonietta, Banzato, Claudia, Barbaglia, Michelangelo, Bardasi, Giulia, Barrani, Monica, Basso, Tiziano, Brach del Prever, Adalberto, Belli, Fina, Bellomo Anna, Rita, Besenzon, Luigi, Biagioni, Martina, Bonaudo, Roberto, Bruni, Giulia, Brunori, Elena, Cagnoli, Giacomo, Campanozzi, Angelo, Casaccia, Germana, Castello, Mario, Chiaro, Andrea, Cimadore, Nicoletta, Cioni, Maddalena, Cortinovis, Francesca, De Cosmi, Valentina, De Giacomo, Costantino, Del Vecchio, Sergio, Diamanti, Antonella, Di Leo, Grazia, Di Scala, Carmen, Famiani, Annalisa, Felici, Enrico, Ferraris, Silvio, Fomasi, Martina, Fontanella, Giovanna, Frimaire, Alessia, Fusco, Patrizia, Galvagno, Graziana, Gandullia, Paolo, Gasparrini, Enrico, Guanà, Riccardo, Guerra, Azzurra, Lanari, Marcello, Lacitignola, Laura, Lezo, Antonella, Lizzoli, Francesca, Maggiore, Giuseppe, Magistà Anna, Maria, Malaventura, Cristina, Marmetucci, Luigi, Mazzocchi, Alessandra, Mazzoni, Elisa, Melli, Paola, Memmini, Graziano, Meneghini, Anna, Miglietti, Nunzia, Migliore, Giuseppina, Mistura, Laura, Monaci, Alessandro, Morganti, Alessia, Nesi, Francesca, Opinto, Vittoria, Pace, Mariella, Palamone, Gianluigi, Panceri, Roberto, Parisi, Giuseppe, Pastore, Maria, Penagini, Francesca, Perrone, Michela, Petitti, Patrizia, Pettinari, Chiara, Peverelli, Paola, Pinon, Michele, Russo, Carla, Sala, Alessandra, Salata, Michele, Salmaso, Mara, Sangerardi, Maria, Santangelo, Barbara, Savino, Francesco, Scatà, Donata, Siani, Paolo, Spagnuolo, Maria Immacolata, Sparano, Paola, Stamati Filomena, Andreina, Tulli, Monica, Uga, Elena, Urbano, Flavia, Verlato, Giovanna, Zoppo, Marisa, Zuin, Giovanna, Lezo, A., Diamanti, A., Capriati, T., Gandullia, P., Fiore, P., Lacitignola, L., Gatti, S., Spagnuolo, M.I., Cecchi, N., Verlato, G., Borodani, S., Forchielli, L., Panceri, R., Brunori, E., Pastore, M., and Amarri, S.

Published
2017
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3. MagicplexTM Sepsis Real-Time test to improve bloodstream infection diagnostics in children

Author

Marco, Denina, Carlo, Scolfaro, Sara, Colombo, Carmelina, Calitri, Silvia, Garazzino, Maria, Barbui Anna, Silvia, Brossa, Pier-Angelo, Tovo, Neve, Valter, Conio, Alessandra, Vitale, Pasquale, Giacchino, Mareva, Saglio, Francesco, Iannandrea, Stefania, Grassitelli, Sergio Michele, Luccoli, Luigi, Esposito, Irene, Ragazzi, Paola, Carlino, Christian, Porcellini, Maria Gabriella, Bonaudo, Roberto, Calvo, Pier Luigi, Baldi, Maurizio, Laudati, Roberto, Ferraris, Silvio, Aidala, Enrico, Valori, Andrea, Banaudi, Elena, Riggi, Chiara, Bertino, Enrico, Coscia, Alessandra, Farinasso, Daniela, Cavecchia, Ilaria, Cerchio, Roberto, Farina, Daniele, Manzoni, Paolo, and Regina Margherita Children’s Hospital Bloodstream Infections Study Group participants

Published
2016
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11. Anthropometric characteristics of newborns with Prader–Willi syndrome

Author

Salvatoni, Alessandro, primary, Moretti, Alex, additional, Grugni, Graziano, additional, Agosti, Massimo, additional, Azzolini, Sara, additional, Bonaita, Valentina, additional, Cianci, Paola, additional, Corica, Domenico, additional, Crinò, Antonino, additional, Delvecchio, Maurizio, additional, Ferraris, Silvio, additional, Greggio, Nella A., additional, Iughetti, Lorenzo, additional, Licenziati, Maria R., additional, Madeo, Simona F., additional, Nosetti, Luana, additional, Pajno, Roberta, additional, Rutigliano, Irene, additional, Sacco, Michele, additional, Salvatore, Silvia, additional, Scarano, Emanuela, additional, Trifirò, Giuliana, additional, and Wasniewska, Malgorzata, additional

Published
2019
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12. Anthropometric characteristics of newborns with Prader-Willi syndrome

Author

Salvatoni, A, Moretti, A, Grugni, G, Agosti, M, Azzolini, S, Bonaita, V, Cianci, P, Corica, D, Crinò, A, Delvecchio, M, Ferraris, S, Greggio, N, Iughetti, L, Licenziati, M, Madeo, S, Nosetti, L, Pajno, R, Rutigliano, I, Sacco, M, Salvatore, S, Scarano, E, Trifirò, G, Wasniewska, M, Salvatoni, Alessandro, Moretti, Alex, Grugni, Graziano, Agosti, Massimo, Azzolini, Sara, Bonaita, Valentina, Cianci, Paola, Corica, Domenico, Crinò, Antonino, Delvecchio, Maurizio, Ferraris, Silvio, Greggio, Nella A, Iughetti, Lorenzo, Licenziati, Maria R, Madeo, Simona F, Nosetti, Luana, Pajno, Roberta, Rutigliano, Irene, Sacco, Michele, Salvatore, Silvia, Scarano, Emanuela, Trifirò, Giuliana, Wasniewska, Malgorzata, Salvatoni, A, Moretti, A, Grugni, G, Agosti, M, Azzolini, S, Bonaita, V, Cianci, P, Corica, D, Crinò, A, Delvecchio, M, Ferraris, S, Greggio, N, Iughetti, L, Licenziati, M, Madeo, S, Nosetti, L, Pajno, R, Rutigliano, I, Sacco, M, Salvatore, S, Scarano, E, Trifirò, G, Wasniewska, M, Salvatoni, Alessandro, Moretti, Alex, Grugni, Graziano, Agosti, Massimo, Azzolini, Sara, Bonaita, Valentina, Cianci, Paola, Corica, Domenico, Crinò, Antonino, Delvecchio, Maurizio, Ferraris, Silvio, Greggio, Nella A, Iughetti, Lorenzo, Licenziati, Maria R, Madeo, Simona F, Nosetti, Luana, Pajno, Roberta, Rutigliano, Irene, Sacco, Michele, Salvatore, Silvia, Scarano, Emanuela, Trifirò, Giuliana, and Wasniewska, Malgorzata

Abstract

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader–Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p <.0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS.

Published
2019

13. Etiological diagnosis of bloodstream infections through a multiplex real-time polymerase chain reaction test in pediatric patients: a case series from a tertiary Italian hospital

Author

Calitri, Carmelina, Denina, Marco, Scolfaro, Carlo, Garazzino, Silvia, Licciardi, Francesco, Burdino, Elisa, Allice, Tiziano, Carraro, Francesca, De Intinis, Gianfranco, Ghisetti, Valeria, Tovo, Pier Angelo, Regina Margherita Children's Hospital Bloodstream Infections Study Group including Neve, Valter, Colombo, Sara, Conio, Alessandra, Vitale, Pasquale, Giacchino, Mareva, Saglio, Francesco, Iannandrea, Stefania, Grassitelli, Sergio Michele, Luccoli, Luigi, Esposito, Irene, Ragazzi, Paola, Carlino, christian francesco, Porcellini, Maria Gabriella, Bonaudo, Roberto, Calvo, PIER LUIGI, Baldi, Maurizio, Laudati, Roberto, Ferraris, Silvio, Aidala, Enrico, Valori, Andrea, Banaudi, Elena, Riggi, Chiara, Bertino, Enrico, Coscia, Alessandra, Farinasso, Daniela, Cavecchia, Ilaria, Cerchio, Roberto, Bosetti, Francesca Maria, Farina, Daniele, and Manzoni, Paolo

Subjects
Multiplex polymerase chain reaction test, Male, Microbiology (medical), medicine.medical_specialty, Adolescent, Immunology and Microbiology (all), Real-Time Polymerase Chain Reaction, Roche Diagnostics, Tertiary Care Centers, Interquartile range, Sepsis, Internal medicine, Multiplex polymerase chain reaction, medicine, Humans, Multiplex, Blood culture, Child, Immunocompromised host, Invasive fungal disease, Child, Preschool, Female, Italy, Molecular Diagnostic Techniques, Multiplex Polymerase Chain Reaction, Retrospective Studies, Infectious Diseases, Medicine (all), Preschool, General Immunology and Microbiology, medicine.diagnostic_test, business.industry, Retrospective cohort study, General Medicine, Surgery, Real-time polymerase chain reaction, Etiology, business
Abstract

The outcome of bloodstream infections (BSIs) is strongly related to microbiological diagnosis. Several factors may reduce blood culture (BC) diagnostic yield in pediatric BSIs, making the application of molecular methods quite promising.Multiplex real-time polymerase chain reaction (PCR) tests (the LightCycler Septifast Test MGRADE by Roche Diagnostics--LC-SF) performed in the tertiary centre of Regina Margherita Children's Hospital (Turin, Italy) over a 3-year period were retrospectively evaluated. Results of the LC-SF test were compared with those of BC (Automated Bact/Alert 3D, Biomerieux) collected at a close time point.545 LC-SF tests were collected from 289 patients (183 males, median age 6.8 years, interquartile range (IQR) = 2.7-13.1); 163 had congenital or acquired immunodeficiency. In 515 cases (94.5%) the LC-SF test was performed with ongoing empirical antimicrobial therapy. Etiological definition was achieved in 111 BSI cases (20.4%). Both LC-SF and BC identified the responsible pathogen in 39 episodes. The LC-SF test alone gave a positive result in 29 septic episodes; BC alone permitted the etiological diagnosis in 43 episodes, but isolates were not included in the LC-SF master list in 10 cases. A 26% increase in bacterial identification chances due to the LC-SF test was documented. Cohen's kappa test indicated a moderate strength of agreement (0.49) between LC-SF tests and BCs closely collected.BC remains the gold standard for the etiological diagnosis of BSIs, but PCR methods proved to be a valuable adjunctive diagnostic tool in pediatric BSIs, especially in children receiving empirical chemotherapy.

Published
2014
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15. Italian pediatric nutrition survey

Author

Lezo, A., primary, Diamanti, A., additional, Capriati, T., additional, Gandullia, P., additional, Fiore, P., additional, Lacitignola, L., additional, Gatti, S., additional, Spagnuolo, M.I., additional, Cecchi, N., additional, Verlato, G., additional, Borodani, S., additional, Forchielli, L., additional, Panceri, R., additional, Brunori, E., additional, Pastore, M., additional, Amarri, S., additional, Abate, Rosaria, additional, Accorsi, Paola, additional, Aidala, Enrico, additional, Amarri, Sergio, additional, Ancora, Gina, additional, Angelotti, Luisella, additional, Annibali, Roberta, additional, Antonini Monica, Antonietta, additional, Banzato, Claudia, additional, Barbaglia, Michelangelo, additional, Bardasi, Giulia, additional, Barrani, Monica, additional, Basso, Tiziano, additional, Brach del Prever, Adalberto, additional, Belli, Fina, additional, Bellomo Anna, Rita, additional, Besenzon, Luigi, additional, Biagioni, Martina, additional, Bonaudo, Roberto, additional, Bruni, Giulia, additional, Brunori, Elena, additional, Cagnoli, Giacomo, additional, Campanozzi, Angelo, additional, Casaccia, Germana, additional, Castello, Mario, additional, Chiaro, Andrea, additional, Cimadore, Nicoletta, additional, Cioni, Maddalena, additional, Cortinovis, Francesca, additional, De Cosmi, Valentina, additional, De Giacomo, Costantino, additional, Del Vecchio, Sergio, additional, Diamanti, Antonella, additional, Di Leo, Grazia, additional, Di Scala, Carmen, additional, Famiani, Annalisa, additional, Felici, Enrico, additional, Ferraris, Silvio, additional, Fomasi, Martina, additional, Fontanella, Giovanna, additional, Frimaire, Alessia, additional, Fusco, Patrizia, additional, Galvagno, Graziana, additional, Gandullia, Paolo, additional, Gasparrini, Enrico, additional, Guanà, Riccardo, additional, Guerra, Azzurra, additional, Lanari, Marcello, additional, Lacitignola, Laura, additional, Lezo, Antonella, additional, Lizzoli, Francesca, additional, Maggiore, Giuseppe, additional, Magistà Anna, Maria, additional, Malaventura, Cristina, additional, Marmetucci, Luigi, additional, Mazzocchi, Alessandra, additional, Mazzoni, Elisa, additional, Melli, Paola, additional, Memmini, Graziano, additional, Meneghini, Anna, additional, Miglietti, Nunzia, additional, Migliore, Giuseppina, additional, Mistura, Laura, additional, Monaci, Alessandro, additional, Morganti, Alessia, additional, Nesi, Francesca, additional, Opinto, Vittoria, additional, Pace, Mariella, additional, Palamone, Gianluigi, additional, Panceri, Roberto, additional, Parisi, Giuseppe, additional, Pastore, Maria, additional, Penagini, Francesca, additional, Perrone, Michela, additional, Petitti, Patrizia, additional, Pettinari, Chiara, additional, Peverelli, Paola, additional, Pinon, Michele, additional, Russo, Carla, additional, Sala, Alessandra, additional, Salata, Michele, additional, Salmaso, Mara, additional, Sangerardi, Maria, additional, Santangelo, Barbara, additional, Savino, Francesco, additional, Scatà, Donata, additional, Siani, Paolo, additional, Spagnuolo, Maria Immacolata, additional, Sparano, Paola, additional, Stamati Filomena, Andreina, additional, Tulli, Monica, additional, Uga, Elena, additional, Urbano, Flavia, additional, Verlato, Giovanna, additional, Zoppo, Marisa, additional, and Zuin, Giovanna, additional

Published
2017
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16. Transient Abnormal Myelopoiesis in Noonan Syndrome

Author

Lanza Carlo, Ferraris Silvio, Farinasso Daniela, Barisone Elena, Bertorello Nicoletta, and Miniero Roberto

Subjects
Male, Pediatrics, medicine.medical_specialty, Pathology, Myeloproliferative Disorders, business.industry, Noonan Syndrome, Transient abnormal myelopoiesis, Infant, Newborn, Hematology, medicine.disease, Hematologic Diseases, Osteochondrodysplasia, Leukemia, Oncology, Refractory, hemic and lymphatic diseases, Recien nacido, Pediatrics, Perinatology and Child Health, medicine, Humans, Noonan syndrome, Myelopoiesis, business
Abstract

An infant affected by Noonan syndrome and presenting with abnormal hemopoiesis is described. Cytogenetic analysis, molecular studies, and in vitro culture assays ruled out myelodysplasia or other hematologic malignancies but were consistent with transient abnormal myelopoiesis. At present, 3 years and 10 months after diagnosis, the patient shows a normal hematologic picture. Supportive treatment in such patients, unless refractory cytopenias or overt leukemia develops, is emphasized.

Published
2002
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18. POLG mutations and Alpers syndrome

Author

Davidzon, Guido, primary, Mancuso, Michelangelo, additional, Ferraris, Silvio, additional, Quinzii, Catarina, additional, Hirano, Michio, additional, Peters, Heidi L., additional, Kirby, Denise, additional, Thorburn, David R., additional, and DiMauro, Salvatore, additional

Published
2005
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27. POLGmutations and Alpers syndrome

Author

Davidzon, Guido, Mancuso, Michelangelo, Ferraris, Silvio, Quinzii, Catarina, Hirano, Michio, Peters, Heidi L., Kirby, Denise, Thorburn, David R., and DiMauro, Salvatore

Abstract

Alpers–Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene (POLG). We have identified POLGmutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for AHS. All were compound heterozygous for the G848S and W748S mutations, previously reported in patients with progressive external ophtalmoplegia or ataxia. We conclude that AHS should be included in the clinical spectrum of mtDNA depletion and is often associated with POLGmutations, which can cause either multiple mtDNA deletions or mtDNA depletion. Ann Neurol 2005;57:921–924

Published
2005
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28. Italian pediatric nutrition survey

Author

Michelangelo Barbaglia, Luigi Marmetucci, Nicoletta Cimadore, Alessandro Monaci, P. Fiore, Sergio Amarri, Elena Brunori, Maddalena Cioni, Carla Russo, Monica Barrani, P. Gandullia, Giovanna Zuin, Giuseppe Parisi, Rita Bellomo Anna, Michele Pinon, Nunzia Miglietti, Francesca Lizzoli, Elisa Mazzoni, Giulia Bardasi, Marisa Zoppo, Giacomo Cagnoli, S. Borodani, L. Forchielli, Monica Tulli, Fina Belli, Michele Salata, Giovanna Verlato, Vittoria Opinto, Roberto Bonaudo, Luisella Angelotti, Giulia Bruni, Elena Uga, Costantino De Giacomo, Antonietta Antonini Monica, Riccardo Guanà, Flavia Urbano, Rosaria Abate, Barbara Santangelo, Chiara Pettinari, Giovanna Fontanella, Patrizia Fusco, L. Lacitignola, Adalberto Brach Del Prever, Gina Ancora, S. Amarri, Laura Lacitignola, Paola Sparano, Marcello Lanari, Stefano Gatti, Francesca Nesi, Valentina De Cosmi, Alessia Frimaire, A Lezo, Francesca Penagini, Carmen Di Scala, Giuseppina Migliore, Roberta Annibali, Grazia Di Leo, Paola Peverelli, Mara Salmaso, Antonella Lezo, Paola Melli, M. Pastore, E. Brunori, Claudia Banzato, M.I. Spagnuolo, Antonella Diamanti, G. Verlato, Angelo Campanozzi, Mariella Pace, Martina Biagioni, Graziano Memmini, Laura Mistura, Sergio Del Vecchio, Annalisa Famiani, Enrico Felici, Germana Casaccia, Graziana Galvagno, Mario Castello, R. Panceri, Paola Accorsi, Martina Fomasi, Francesca Cortinovis, Michela Perrone, Teresa Capriati, Andrea Chiaro, Silvio Ferraris, Nicola Cecchi, Maria Immacolata Spagnuolo, Patrizia Petitti, Cristina Malaventura, Maria Sangerardi, Enrico Gasparrini, Francesco Savino, Luigi Besenzon, Anna Meneghini, Azzurra Guerra, Alessandra Sala, Maria Magistã Anna, Enrico Aidala, Donata Scatã, Gianluigi Palamone, Tiziano Basso, Giuseppe Maggiore, A. Diamanti, Alessandra Mazzocchi, Alessia Morganti, Andreina Stamati Filomena, Paolo Siani, Roberto Panceri, Maria Pastore, Paolo Gandullia, Lezo, A., Diamanti, A., Capriati, T., Gandullia, P., Fiore, P., Lacitignola, L., Gatti, S., Spagnuolo, M. I., Cecchi, N., Verlato, G., Borodani, S., Forchielli, L., Panceri, R., Brunori, E., Pastore, M., Amarri, S., Abate, R., Accorsi, P., Aidala, E., Ancora, G., Angelotti, L., Annibali, R., Antonini Monica, A., Banzato, C., Barbaglia, M., Bardasi, G., Barrani, M., Basso, T., Brach del Prever, A., Belli, F., Bellomo Anna, R., Besenzon, L., Biagioni, M., Bonaudo, R., Bruni, G., Cagnoli, G., Campanozzi, A., Casaccia, G., Castello, M., Chiaro, A., Cimadore, N., Cioni, M., Cortinovis, F., De Cosmi, V., De Giacomo, C., Del Vecchio, S., Di Leo, G., Di Scala, C., Famiani, A., Felici, E., Ferraris, S., Fomasi, M., Fontanella, G., Frimaire, A., Fusco, P., Galvagno, G., Gasparrini, E., Guana, R., Guerra, A., Lanari, M., Lizzoli, F., Maggiore, G., Magista Anna, M., Malaventura, C., Marmetucci, L., Mazzocchi, A., Mazzoni, E., Melli, P., Memmini, G., Meneghini, A., Miglietti, N., Migliore, G., Mistura, L., Monaci, A., Morganti, A., Nesi, F., Opinto, V., Pace, M., Palamone, G., Parisi, G., Penagini, F., Perrone, M., Petitti, P., Pettinari, C., Peverelli, P., Pinon, M., Russo, C., Sala, A., Salata, M., Salmaso, M., Sangerardi, M., Santangelo, B., Savino, F., Scata, D., Siani, P., Sparano, P., Stamati Filomena, A., Tulli, M., Uga, E., Urbano, F., Zoppo, M., Zuin, G., Abate, Rosaria, Accorsi, Paola, Aidala, Enrico, Amarri, Sergio, Ancora, Gina, Angelotti, Luisella, Annibali, Roberta, Antonini Monica, Antonietta, Banzato, Claudia, Barbaglia, Michelangelo, Bardasi, Giulia, Barrani, Monica, Basso, Tiziano, Brach Del Prever, Adalberto, Belli, Fina, Bellomo Anna, Rita, Besenzon, Luigi, Biagioni, Martina, Bonaudo, Roberto, Bruni, Giulia, Brunori, Elena, Cagnoli, Giacomo, Campanozzi, Angelo, Casaccia, Germana, Castello, Mario, Chiaro, Andrea, Cimadore, Nicoletta, Cioni, Maddalena, Cortinovis, Francesca, De Cosmi, Valentina, De Giacomo, Costantino, Del Vecchio, Sergio, Diamanti, Antonella, Di Leo, Grazia, Di Scala, Carmen, Famiani, Annalisa, Felici, Enrico, Ferraris, Silvio, Fomasi, Martina, Fontanella, Giovanna, Frimaire, Alessia, Fusco, Patrizia, Galvagno, Graziana, Gandullia, Paolo, Gasparrini, Enrico, Guanã , Riccardo, Guerra, Azzurra, Lanari, Marcello, Lacitignola, Laura, Lezo, Antonella, Lizzoli, Francesca, Maggiore, Giuseppe, Magistã Anna, Maria, Malaventura, Cristina, Marmetucci, Luigi, Mazzocchi, Alessandra, Mazzoni, Elisa, Melli, Paola, Memmini, Graziano, Meneghini, Anna, Miglietti, Nunzia, Migliore, Giuseppina, Mistura, Laura, Monaci, Alessandro, Morganti, Alessia, Nesi, Francesca, Opinto, Vittoria, Pace, Mariella, Palamone, Gianluigi, Panceri, Roberto, Parisi, Giuseppe, Pastore, Maria, Penagini, Francesca, Perrone, Michela, Petitti, Patrizia, Pettinari, Chiara, Peverelli, Paola, Pinon, Michele, Russo, Carla, Sala, Alessandra, Salata, Michele, Salmaso, Mara, Sangerardi, Maria, Santangelo, Barbara, Savino, Francesco, Scatã , Donata, Siani, Paolo, Spagnuolo, Maria Immacolata, Sparano, Paola, Stamati Filomena, Andreina, Tulli, Monica, Uga, Elena, Urbano, Flavia, Verlato, Giovanna, Zoppo, Marisa, and Zuin, Giovanna

Subjects
0301 basic medicine, Male, Pediatrics, Hospitalized patients, Endocrinology, Diabetes and Metabolism, Pediatric nutrition, 0302 clinical medicine, Child Development, Endocrinology, Prevalence, 030212 general & internal medicine, Growth Charts, Child, Nutritional support, Wasting, Growth Disorders, Pediatric, Stunting, Nutrition and Dietetics, Nutritional status, Nutrition Surveys, Diabetes and Metabolism, Italy, Malnutrition, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Nutritional Status, Socio-culturale, Malnutrition in children, 03 medical and health sciences, Young Adult, medicine, Humans, 030109 nutrition & dietetics, business.industry, Infant, Anthropometry, medicine.disease, Parenteral nutrition, Chronic Disease, business, Child, Hospitalized
Abstract

Introduction the prevalence of malnutrition in children and its impact on clinical outcomes is underrecognized by clinicians in Italy as well as worldwide. A novel definition of pediatric malnutrition has been recently proposed by a working group of the Academy of Nutrition and Dietetics and American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.), based on the correlation between illness and the use of zscores of anthropometric measurements. Aim to investigate the prevalence of malnutrition and related nutritional support among hospitalized children in Italy, in a nationwide survey performed in a single day (16/4/2015). Methods an open access website (http://nday.biomedia.net) was used to collected data from 73 hospitals and 101 wards in 14 Italian regions (1994 patients). Anonymous information was collected on hospitals' characteristics, patient's anthropometry, admission diagnosis, presence of chronic diseases and use of nutritional support: oral nutritional supplements (ONS), enteral nutrition (EN) or parenteral nutrition (PN). Z-scores of anthropometric measurements, calculated with Epi Info 7.1.5, defined nutritional status: wasting was identified by BMI or Weight-for-Length z-score (

Published
2017

29. Dihydropteridine reductase deficiency in man: from biology to treatment.

Author

Ponzone A, Spada M, Ferraris S, Dianzani I, and de Sanctis L

Subjects
Female, Humans, Incidence, Infant, Newborn, Italy epidemiology, Male, Neonatal Screening, Research, Risk Factors, Sex Distribution, Genetic Predisposition to Disease, Phenylketonurias epidemiology, Phenylketonurias genetics, Phenylketonurias therapy
Abstract

In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article., (Copyright 2003 Wiley Periodicals, Inc.)

Published
2004
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