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12 results on '"Azzolini, Sara"'

1. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Author

Rossini, Linda, Ricci, Silvia, Montin, Davide, Azzari, Chiara, Gambineri, Eleonora, Tellini, Marco, Conti, Francesca, Pession, Andrea, Saettini, Francesco, Naviglio, Samuele, Valencic, Erica, Magnolato, Andrea, Baselli, Lucia, Azzolini, Sara, Consolini, Rita, Leonardi, Lucia, D’Alba, Irene, Carraro, Elisa, Romano, Roberta, Melis, Daniela, Stagi, Stefano, Cirillo, Emilia, Giardino, Giuliana, Biffi, Alessandra, Pignata, Claudio, Putti, Maria Caterina, and Marzollo, Antonio

Published
2024
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2. Rhinencephalon changes in tuberous sclerosis complex

Author

Manara, Renzo, Brotto, Davide, Bugin, Samuela, Pelizza, Maria Federica, Sartori, Stefano, Nosadini, Margherita, Azzolini, Sara, Iaconetta, Giorgio, Parazzini, Cecilia, Murgia, Alessandra, Peron, Angela, Canevini, Paola, Labriola, Francesca, Vignoli, Aglaia, and Toldo, Irene

Published
2018
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4. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort

Author

Capalbo, Donatella, primary, Moracas, Cristina, additional, Cappa, Marco, additional, Balsamo, Antonio, additional, Maghnie, Mohamad, additional, Wasniewska, Malgorzata Gabriela, additional, Greggio, Nella Augusta, additional, Baronio, Federico, additional, Bizzarri, Carla, additional, Ferro, Giusy, additional, Di Lascio, Alessandra, additional, Stancampiano, Marianna Rita, additional, Azzolini, Sara, additional, Patti, Giuseppa, additional, Longhi, Silvia, additional, Valenzise, Mariella, additional, Radetti, Giorgio, additional, Betterle, Corrado, additional, Russo, Gianni, additional, and Salerno, Mariacarolina, additional

Published
2020
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5. 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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6. 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

7. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

Author

Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, and Salerno, Mariacarolina

Subjects
ADRENAL insufficiency, AUTOANTIBODIES, CYTOMEGALOVIRUS diseases, MEDICAL sciences
Abstract

Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.Patients and Methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.Results: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was -0.70 ± 1.20 standard deviation score.Conclusions: We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition. [ABSTRACT FROM AUTHOR]

Published
2021
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8. Long-term safety and efficacy of Omnitrope®, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study

Author

Iughetti, Lorenzo, primary, Tornese, Gianluca, additional, Street, Maria Elisabeth, additional, Napoli, Flavia, additional, Giavoli, Claudia, additional, Antoniazzi, Franco, additional, Stagi, Stefano, additional, Luongo, Caterina, additional, Azzolini, Sara, additional, Ragusa, Letizia, additional, Bona, Gianni, additional, Zecchino, Clara, additional, Aversa, Tommaso, additional, Persani, Luca, additional, Guazzarotti, Laura, additional, Zecchi, Emiliano, additional, Pietropoli, Alberto, additional, and Zucchini, Stefano, additional

Published
2016
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12. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort

Author

Mariacarolina Salerno, Giuseppa Patti, Mohamad Maghnie, Sara Azzolini, Silvia Longhi, Alessandra di Lascio, Gianni Russo, Corrado Betterle, Giusy Ferro, Carla Bizzarri, Marco Cappa, Giorgio Radetti, Marianna Rita Stancampiano, Mariella Valenzise, Donatella Capalbo, Cristina Moracas, Antonio Balsamo, Nella Augusta Greggio, Malgorzata Wasniewska, Federico Baronio, Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, and Salerno, Mariacarolina

Subjects
Male, medicine.medical_specialty, Pediatrics, Delayed Diagnosis, Adolescent, adrenal crisis, Addison’s disease, Pediatric endocrinology, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Comorbidity, Adrenocorticotropic hormone, Biochemistry, Primary Adrenal Insufficiency, Cohort Studies, Endocrinology, Internal medicine, Prevalence, medicine, Adrenal insufficiency, Humans, Congenital adrenal hyperplasia, Addison’s disease, Primary adrenal insufficiency, adrenal crisis, adult height, Age of Onset, Child, Preschool, Retrospective Studies, adult height, Primary adrenal insufficiency, business.industry, Adrenal hypoplasia, Biochemistry (medical), Infant, Adrenal crisis, medicine.disease, Addison's disease, Adrenal Insufficiency, Child, Preschool, Female, Italy, Mutation, medicine.symptom, business
Abstract

Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. Patients and Methods Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Results The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was −0.70 ± 1.20 standard deviation score. Conclusions We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.

Published
2020
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