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2. Reduced prevalence of fetal exposure to alcohol in Italy: a nationwide survey

Author

La Maida, Nunzia, primary, Di Giorgi, Alessandro, additional, Pellegrini, Manuela, additional, Ceccanti, Mauro, additional, Caruso, Salvatore, additional, Ricci, Giuseppe, additional, Neri, Isabella, additional, Lana, Sheherazade, additional, Minutillo, Adele, additional, Berretta, Paolo, additional, Busardò, Francesco Paolo, additional, Pichini, Simona, additional, Camandona, Franco, additional, Vaccari, Lucia, additional, Travan, Laura, additional, Maso, Giampaolo, additional, Stampalija, Tamara, additional, Zanazzo, Lucia, additional, Pisana, Paola, additional, Driul, Lorenza, additional, Barbui, Elisa, additional, Caissutti, Claudia, additional, Valente, Elena, additional, Ricchi, Alba, additional, Bettiga, Elisa, additional, Piccolo, Elisa, additional, Pati, Mariangela, additional, Pedori, Simona, additional, Antonazzo, Patrizio, additional, Sottile, Gilda, additional, Faro, Fabrizio Lo, additional, Tini, Anastasio, additional, Massacesi, Mario, additional, Rapisarda, Carmen, additional, Vivirito, Gabriella, additional, Pinna, Giampiero, additional, D'anna, Mariarosa, additional, Klein, Lili, additional, Bucolo, Antonino, additional, D'Anna, Rosario, additional, Monaco, Caterina, additional, La Ferrera, Giuseppe, additional, Capobianco, Giampiero, additional, Olzai, Mauro Giorgio, additional, Angioni, Stefano, additional, D'Alterio, Maurizio Nicola, additional, Serravalle, Paolo, additional, Vicquéry, Christine, additional, Scalchi, Sabrina, additional, Morando, Carla, additional, Meneghin, Margherita, additional, Scapolan, Cinzia, additional, Maggino, Tiziano, additional, Guarinoni, Barbara, additional, Napolitano, Giovanna M. Cristina, additional, De Vita, Maria Grazia, additional, Carlo, Costantino Di, additional, Interlandi, Fabiana, additional, Bisceglia, Massimo, additional, Barbaglia, Michelangelo, additional, Arnulfo, Alberto, additional, Finale, Enrico, additional, Marozio, Luca, additional, Natali, Ilaria, additional, Grazia, Signoretti Maria, additional, Staffler, Alex, additional, Tarani, Luigi, additional, Coriale, Giovanna, additional, Messina, Marisa Patrizia, additional, D'Angelo, Alessio, additional, Bonito, Marco, additional, Haass, Cristina, additional, Capasso, Letizia, additional, Raimondi, Francesco, additional, De Bernardo, Giuseppe, additional, Iacobelli, Pietro, additional, Spadarella, Simona, additional, Mastantuoni, Enrica, additional, Rabuano, Raffaello, additional, Calzatini, Francesco, additional, Bossi, Anna, additional, Aversa, Salvatore, additional, Prefumo, Federico, additional, Bellan, Cristina, additional, Leone, Giovanna, additional, Ciammella, Massimo, additional, Von-Wunster, Silvia, additional, Liguori, Antonella, additional, Ornaghi, Sara, additional, Fumagalli, Simona, additional, Sanguineti, Fabio, additional, Gianola, Gaia, additional, Cagnacci, Angelo, additional, Amidani, Arianna, additional, Sisto, Antonio, additional, Marcello, Francesca Di, additional, Santillo, Vincenzo, additional, Bartolomeo, Cristina Di, additional, Gerli, Sandro, additional, Cagnoli, Giacomo, additional, Petrisano, Mirella, additional, Pesce, Simona, additional, Lascio, Nicola Di, additional, Falvino, Sonia, additional, Appio, Petronilla, additional, Targiani, Vincenza, additional, Cavaliere, Anna Franca, additional, Turrini, Irene, additional, Belli, Gilda, additional, Gambi, Beatrice, additional, Florio, Pasquale, additional, Innocenti, Elena Degli, additional, Magi, Letizia, additional, Civitelli, Flavio, additional, Nappi, Luigi, additional, Sorrentino, Felice, additional, Silvestris, Teresa, additional, Indrio, Flavia, additional, Laforgia, Nicola, additional, Rizzo, Valentina, additional, La Rocca, Maria, additional, Pradal, Ugo, additional, Memo, Luigi, additional, Diaz, Claudio, additional, Riscica, Patrizia, additional, and Bazz, Stefania, additional

Published
2023
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3. A complicated association between two different genetic rare disorders: cystic fibrosis and spinal muscular atrophy

Author

PALMA, Marta, primary, SPADARELLA, Simona, additional, DONNARUMMA, Bernadette, additional, ZOLLO, Giada, additional, NUNZIATA, Francesco, additional, CIMBALO, Chiara, additional, CASTALDO, Alice, additional, BUONPENSIERO, Paolo, additional, TERRONE, Gaetano, additional, VARONE, Antonio, additional, TOSCO, Antonella, additional, SEPE, Angela, additional, and RAIA, Valeria, additional

Published
2023
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4. Reduced prevalence of fetal exposure to alcohol in Italy: a nationwide survey

Author

Camandona, Franco, Vaccari, Lucia, Travan, Laura, Maso, Giampaolo, Stampalija, Tamara, Zanazzo, Lucia, Pisana, Paola, Driul, Lorenza, Barbui, Elisa, Caissutti, Claudia, Valente, Elena, Ricchi, Alba, Bettiga, Elisa, Piccolo, Elisa, Pati, Mariangela, Pedori, Simona, Antonazzo, Patrizio, Sottile, Gilda, Faro, Fabrizio Lo, Tini, Anastasio, Massacesi, Mario, Rapisarda, Carmen, Vivirito, Gabriella, Pinna, Giampiero, D'anna, Mariarosa, Klein, Lili, Bucolo, Antonino, D'Anna, Rosario, Monaco, Caterina, La Ferrera, Giuseppe, Capobianco, Giampiero, Olzai, Mauro Giorgio, Angioni, Stefano, D'Alterio, Maurizio Nicola, Serravalle, Paolo, Vicquéry, Christine, Scalchi, Sabrina, Morando, Carla, Meneghin, Margherita, Scapolan, Cinzia, Maggino, Tiziano, Guarinoni, Barbara, Napolitano, Giovanna M. Cristina, De Vita, Maria Grazia, Carlo, Costantino Di, Interlandi, Fabiana, Bisceglia, Massimo, Barbaglia, Michelangelo, Arnulfo, Alberto, Finale, Enrico, Marozio, Luca, Natali, Ilaria, Grazia, Signoretti Maria, Staffler, Alex, Tarani, Luigi, Coriale, Giovanna, Messina, Marisa Patrizia, D'Angelo, Alessio, Bonito, Marco, Haass, Cristina, Capasso, Letizia, Raimondi, Francesco, De Bernardo, Giuseppe, Iacobelli, Pietro, Spadarella, Simona, Mastantuoni, Enrica, Rabuano, Raffaello, Calzatini, Francesco, Bossi, Anna, Aversa, Salvatore, Prefumo, Federico, Bellan, Cristina, Leone, Giovanna, Ciammella, Massimo, Von-Wunster, Silvia, Liguori, Antonella, Ornaghi, Sara, Fumagalli, Simona, Sanguineti, Fabio, Gianola, Gaia, Cagnacci, Angelo, Amidani, Arianna, Sisto, Antonio, Marcello, Francesca Di, Santillo, Vincenzo, Bartolomeo, Cristina Di, Gerli, Sandro, Cagnoli, Giacomo, Petrisano, Mirella, Pesce, Simona, Lascio, Nicola Di, Falvino, Sonia, Appio, Petronilla, Targiani, Vincenza, Cavaliere, Anna Franca, Turrini, Irene, Belli, Gilda, Gambi, Beatrice, Florio, Pasquale, Innocenti, Elena Degli, Magi, Letizia, Civitelli, Flavio, Nappi, Luigi, Sorrentino, Felice, Silvestris, Teresa, Indrio, Flavia, Laforgia, Nicola, Rizzo, Valentina, La Rocca, Maria, Pradal, Ugo, Memo, Luigi, Diaz, Claudio, Riscica, Patrizia, Bazz, Stefania, La Maida, Nunzia, Di Giorgi, Alessandro, Pellegrini, Manuela, Ceccanti, Mauro, Caruso, Salvatore, Ricci, Giuseppe, Neri, Isabella, Lana, Sheherazade, Minutillo, Adele, Berretta, Paolo, Busardò, Francesco Paolo, and Pichini, Simona

Published
2023
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6. Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Author

Melis, Daniela, primary, Rossi, Alessandro, additional, Pivonello, Rosario, additional, Salerno, Mariacarolina, additional, Balivo, Francesca, additional, Spadarella, Simona, additional, Muscogiuri, Giovanna, additional, Casa, Roberto Della, additional, Formisano, Pietro, additional, Andria, Generoso, additional, Colao, Annamaria, additional, and Parenti, Giancarlo, additional

Published
2015
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8. Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

Author

Di Dato, Fabiola, Spadarella, Simona, Puoti, Maria Giovanna, Caprio, Maria Grazia, Pagliardini, Severo, Zuppaldi, Claudia, Vallone, Gianfranco, Fecarotta, Simona, Esposito, Gabriella, Iorio, Raffaele, Parenti, Giancarlo, and Spagnuolo, Maria Immacolata

Abstract

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients' clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake. [ABSTRACT FROM AUTHOR]

Published
2019
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9. A complicated association between two different genetic rare disorders: Cystic Fibrosis and Spinal Muscular Atrophy

Author

Antonio Varone, Alice Castaldo, Valeria Raia, P. Buonpensiero, Bernadette Donnarumma, Marta Palma, Antonella Tosco, Angela Sepe, Giada Zollo, Chiara Cimbalo, Simona Spadarella, Gaetano Terrone, Francesco Nunziata, Palma, Marta, Spadarella, Simona, Donnarumma, Bernadette, Zollo, Giada, Nunziata, Francesco, Cimbalo, Chiara, Castaldo, Alice, Buonpensiero, Paolo, Terrone, Gaetano, Varone, Antonio, Tosco, Antonella, Sepe, Angela, and Raia, Valeria

Subjects
Pathology, medicine.medical_specialty, Text mining, business.industry, Pediatrics, Perinatology and Child Health, medicine, MEDLINE, Spinal muscular atrophy, medicine.disease, business, Cystic fibrosis
Published
2021

10. Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Author

Giancarlo Parenti, Maria Grazia Caprio, Gianfranco Vallone, Raffaele Iorio, M.G. Puoti, Gabriella Esposito, Simona Fecarotta, Severo Pagliardini, Claudia Zuppaldi, Simona Spadarella, Maria Immacolata Spagnuolo, Fabiola Di Dato, Di Dato, Fabiola, Spadarella, Simona, Puoti, Maria Giovanna, Caprio, Maria Grazia, Pagliardini, Severo, Zuppaldi, Claudia, Vallone, Gianfranco, Fecarotta, Simona, Esposito, Gabriella, Iorio, Raffaele, Parenti, Giancarlo, and Spagnuolo, Maria Immacolata

Subjects
0301 basic medicine, Male, Sucrose, Hereditary fructose intolerance, Gastroenterology, Severity of Illness Index, fructose, chemistry.chemical_compound, Diet, Carbohydrate-Restricted, Fructose-Bisphosphate Aldolase, Child, chemistry.chemical_classification, Liver injury, Aldolase B, Fructose, Liver steatosis, Sialotransferrin profile, Sorbitol, Adolescent, Alanine Transaminase, Biomarkers, Fatty Liver, Female, Fructose Intolerance, Genetic Predisposition to Disease, Humans, Mutation, Phenotype, Retrospective Studies, Sialoglycoproteins, Transferrin, Nutrition and Dietetics, biology, sucrose, lcsh:Nutrition. Foods and food supply, medicine.medical_specialty, lcsh:TX341-641, Article, liver steatosis, liver steatosi, 03 medical and health sciences, Internal medicine, medicine, sorbitol, Carbohydrate-Restricted, 030102 biochemistry & molecular biology, sialotransferrin profile, business.industry, aldolase B, medicine.disease, Diet, 030104 developmental biology, chemistry, biology.protein, Steatosis, business, Food Science
Abstract

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients&rsquo, clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 &plusmn, 5.6 years and fructose intake 169 &plusmn, 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p &lt, 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 &plusmn, 55 IU/L vs. 143 &plusmn, 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

Published
2019
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11. Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation

Author

A. Rossi, Roberto Della Casa, Simona Spadarella, Giovanna Muscogiuri, F. Balivo, Daniela Melis, Giancarlo Parenti, Mariacarolina Salerno, Rosario Pivonello, Generoso Andria, Pietro Formisano, Annamaria Colao, Melis, Daniela, Rossi, A, Pivonello, R, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, G, Casa, Rd, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, and Parenti, Giancarlo

Subjects
Male, medicine.medical_specialty, Adolescent, 11BHSD1, GSDI, Insulin-resistance, Metabolic syndrome, Case-Control Studies, Child, Disease Susceptibility, Female, Glucose-6-Phosphate, Glycogen Storage Disease Type I, Humans, Metabolic Syndrome, Microsomes, Prospective Studies, Biology, Gastroenterology, chemistry.chemical_compound, Insulin resistance, Internal medicine, Glycogen Storage Disease Type Ib, medicine, Genetics(clinical), Pharmacology (medical), Prospective cohort study, Genetics (clinical), Medicine(all), Glycogen storage disease type I, Glycogen, Research, Case-control study, General Medicine, medicine.disease, Endocrinology, 11ΒHSD1, chemistry, Metabolic control analysis
Abstract

Background: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS). Objective: To evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. Patients and Methods: This was a prospective study. All the enrolled patients were followed at the Department of Pediatrics "Federico II" University of Naples for 10 years. Clinical and biochemical parameters of MS and the presence of IR were recorded. The results were correlated with the biochemical parameters of GSDI-related metabolic control. 10 GSDIa patient (median age 12.10 ± 1.50), 7 GSDIb patients (median age 14.90 ± 2.20 were enrolled in the study. They were compared to 20 and 14 age and sex matched controls, respectively. 10 GSDIa patients (median age 24.60 ± 1.50) and 6 GSDIb patients (median age 25.10 ± 2.00) completed the 10-year-follow-up. At the end of the study the patients' data were compared to 10 and 6 age and sex matched controls, respectively. Results: At study entry, 20 % GSDIa patients had MS and 80 % showed 2 criteria for MS. GSDIa patients showed higher HOMA-IR than controls and GSDIb patients (p < 0.001, p < 0.05), respectively. Baseline ISI was lower in GSDIa than controls (p < 0.001). QUICKI was significantly lower in GSDIa than in controls (p < 0.001). At the end of the study 70 % of GSDIa patients had MS and 30 % showed 2 criteria for MS. HOMA-IR was higher in GSDIa than controls (p < 0.01). Baseline ISI was higher in GSDIb than controls (p < 0.005) and GSD1a (p < 0.05). QUICKI was lower in GSD1a patients than in controls (p < 0.03). VAI was higher in GSDIa patients than controls (p < 0.001) and GSDIb patients (p = 0.002). Conclusions: Our data showed high prevalence of IR and MS in GSDIa patients. We speculate a possible role of 11βHSD1 modulation by G6P availability. We suggest a routine metabolic assessment in GSDIa patients.

Published
2015

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