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1. Neurotoxicity and PRES after severe citalopram intoxication in a 12-months-old baby

Author

Sara Minghetti, Alessandra Lazzerotti, Debora Sala, Chiara Vimercati, Sofia Giudici, Santa Florio, Francesca Formica, Stefania Zambrano, Nivedita Agarwal, and Cinzia Peruzzi

Subjects
Citalopram intoxication, serotonin syndrome, posterior reversible encephalopathy syndrome, cyproheptadine, Medicine (General), R5-920
Abstract

Citalopram intoxications can lead to Serotonin Syndrome (SS) development, characterized by altered mental status, seizures, autonomic instability, hyperthermia and extrapyramidal signs. We review the literature about pediatric acute citalopram intoxications, and we report a case of severe SS in an infant associated to Posterior Reversible Encephalopathy Syndrome (PRES) treated with cyproheptadine as an antidote. An adequate12-month-old girl displayed a sudden global neurological regression with hypotonia, prolonged occipital seizures, right hemiparesis and a progressive wakefulness reduction associated with blindness. Plasmatic concentration of citalopram was equal to 3225 ng/mL (50-110 ng/mL). MRI revealed a transient bilateral caudate and putamen hyperintensity, associated to an occipital cortical and subcortical hyperintensity. She was treated with IV cyproheptadine with progressive benefit in few days. Only 4 children with citalopram intoxication are previously described with neurological involvement. Pediatric citalopram intoxication could cause SS leading to PRES, and cyproheptadine could be used with benefit.

Published
2024
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2. Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life

Author

Silvia Molinari, Chiara Fossati, Maria Laura Nicolosi, Santo Di Marco, Martha Caterina Faraguna, Francesca Limido, Laura Ocello, Claudia Pellegrinelli, Martina Lattuada, Alessandra Gazzarri, Alessandra Lazzerotti, Debora Sala, Chiara Vimercati, Giulia Capitoli, Cecilia Daolio, Andrea Biondi, Adriana Balduzzi, and Alessandro Cattoni

Subjects
Down syndrome, hypothyroidism, hyperthyroidism, hypogonadism, diabetes mellitus, osteopenia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population. Additionally, male individuals with DS often show infertility, while women tend to experience menopause at an overall younger age than healthy controls. Given the recent outstanding improvements in the care of severe DS-related comorbidities, infant mortality has dramatically decreased, with a current average life expectancy exceeding 60 years. Accordingly, the awareness of the specificities of DS in this field is pivotal to timely detect endocrine dysfunctions and to undertake a prompt dedicated treatment. Notably, best practices for the screening and monitoring of pediatric endocrine disorders in DS are still controversial. In addition, specific guidelines for the management of metabolic issues along the challenging period of transitioning from pediatric to adult health care are lacking. By performing a review of published literature, we highlighted the issues specifically involving children and adolescent with DS, aiming at providing clinicians with a detailed up-to-date overview of the endocrine, metabolic and auxological disorders in this selected population, with an additional focus on the management of patients in the critical phase of the transitioning from childhood to adult care.

Published
2024
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3. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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4. Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life

Author

Molinari, S, Fossati, C, Nicolosi, M, Di Marco, S, Faraguna, M, Limido, F, Ocello, L, Pellegrinelli, C, Lattuada, M, Gazzarri, A, Lazzerotti, A, Sala, D, Vimercati, C, Capitoli, G, Daolio, C, Biondi, A, Balduzzi, A, Cattoni, A, Molinari, Silvia, Fossati, Chiara, Nicolosi, Maria Laura, Di Marco, Santo, Faraguna, Martha Caterina, Limido, Francesca, Ocello, Laura, Pellegrinelli, Claudia, Lattuada, Martina, Gazzarri, Alessandra, Lazzerotti, Alessandra, Sala, Debora, Vimercati, Chiara, Capitoli, Giulia, Daolio, Cecilia, Biondi, Andrea, Balduzzi, Adriana, Cattoni, Alessandro, Molinari, S, Fossati, C, Nicolosi, M, Di Marco, S, Faraguna, M, Limido, F, Ocello, L, Pellegrinelli, C, Lattuada, M, Gazzarri, A, Lazzerotti, A, Sala, D, Vimercati, C, Capitoli, G, Daolio, C, Biondi, A, Balduzzi, A, Cattoni, A, Molinari, Silvia, Fossati, Chiara, Nicolosi, Maria Laura, Di Marco, Santo, Faraguna, Martha Caterina, Limido, Francesca, Ocello, Laura, Pellegrinelli, Claudia, Lattuada, Martina, Gazzarri, Alessandra, Lazzerotti, Alessandra, Sala, Debora, Vimercati, Chiara, Capitoli, Giulia, Daolio, Cecilia, Biondi, Andrea, Balduzzi, Adriana, and Cattoni, Alessandro

Abstract

Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population. Additionally, male individuals with DS often show infertility, while women tend to experience menopause at an overall younger age than healthy controls. Given the recent outstanding improvements in the care of severe DS-related comorbidities, infant mortality has dramatically decreased, with a current average life expectancy exceeding 60 years. Accordingly, the awareness of the specificities of DS in this field is pivotal to timely detect endocrine dysfunctions and to undertake a prompt dedicated treatment. Notably, best practices for the screening and monitoring of pediatric endocrine disorders in DS are still controversial. In addition, specific guidelines for the management of metabolic issues along the challenging period of transitioning from pediatric to adult health care are lacking. By performing a review of published literature, we highlighted the issues specifically involving children and adolescent with DS, aiming at providing clinicians with a detailed up-to-date overview of the endocrine, metabolic and auxological disorders in this selected population, with an additional focus on the management of patients in the critical phase of the transitioning from childhood to adult care.

Published
2024

5. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Abstract

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Published
2023
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7. Thyroid Function Tests in Children and Adolescents with Trisomy 21: Definition of Syndrome-Specific Reference Ranges

Author

Cattoni, A, Molinari, S, Capitoli, G, Masera, N, Nicolosi, M, Barzaghi, S, Marziali, G, Lazzerotti, A, Gazzarri, A, Vimercati, C, Sala, D, Biondi, A, Galimberti, S, Fossati, C, Cattoni, Alessandro, Molinari, Silvia, Capitoli, Giulia, Masera, Nicoletta, Nicolosi, Maria Laura, Barzaghi, Silvia, Marziali, Giulia, Lazzerotti, Alessandra, Gazzarri, Alessandra, Vimercati, Chiara, Sala, Debora, Biondi, Andrea, Galimberti, Stefania, Fossati, Chiara, Cattoni, A, Molinari, S, Capitoli, G, Masera, N, Nicolosi, M, Barzaghi, S, Marziali, G, Lazzerotti, A, Gazzarri, A, Vimercati, C, Sala, D, Biondi, A, Galimberti, S, Fossati, C, Cattoni, Alessandro, Molinari, Silvia, Capitoli, Giulia, Masera, Nicoletta, Nicolosi, Maria Laura, Barzaghi, Silvia, Marziali, Giulia, Lazzerotti, Alessandra, Gazzarri, Alessandra, Vimercati, Chiara, Sala, Debora, Biondi, Andrea, Galimberti, Stefania, and Fossati, Chiara

Abstract

CONTEXT: The lack of syndrome-specific reference ranges for thyroid function tests (TFT) among pediatric patients with Down syndrome (DS) results in an overestimation of the occurrence of hypothyroidism in this population. OBJECTIVE: To (a) outline the age-dependent distribution of TFT among pediatric patients with DS; (b) describe the intraindividual variability of TFT over time; and (c) assess the role of elevated thyrotropin (TSH) in predicting the future onset of overt hypothyroidism. METHODS: In this retrospective, monocentric, observational analysis, we included 548 patients with DS (0-18 years) longitudinally assessed between 1992 and 2022. Exclusion criteria were abnormal thyroid anatomy, treatments affecting TFT, and positive thyroid autoantibodies. RESULTS: We determined the age-dependent distribution of TSH, FT3, and FT4 and outlined the relative nomograms for children with DS. Compared with non-syndromic patients, median TSH levels were statistically greater at any age (P < .001). Median FT3 and FT4 levels were statistically lower than controls (P < .001) only in specific age classes (0-11 for FT3, 11-18 years for FT4). TSH levels showed a remarkable fluctuation over time, with a poor (23%-53%) agreement between the TSH centile classes at 2 sequential assessments. Finally, the 75th centile was the threshold above which TSH values predicted future evolution into overt hypothyroidism with the best statistical accuracy, with a satisfactory negative predictive value (0.91), but poor positive predictive value (0.15). CONCLUSION: By longitudinally assessing TFT in a wide pediatric DS population, we outlined the syndrome-specific reference nomograms for TSH, FT3, and FT4 and demonstrated a persistent upward shift of TSH compared to non-syndromic children.

Published
2023

8. THYROID FUNCTION DISORDERS IN THE CHILD AND ADOLESCENT WITH TRISOMY 21

Author

Molinari, S, Fossati, C, Gazzarri, A, Lazzerotti, A, Barzaghi, S, Ocello, L, Grimaldi, C, Nicolosi, M, Biondi, A, Cattoni, A, Molinari S., Fossati C., Gazzarri A., Lazzerotti A., Barzaghi S., Ocello L., Grimaldi C., Nicolosi M. L., Biondi A., Cattoni A., Molinari, S, Fossati, C, Gazzarri, A, Lazzerotti, A, Barzaghi, S, Ocello, L, Grimaldi, C, Nicolosi, M, Biondi, A, Cattoni, A, Molinari S., Fossati C., Gazzarri A., Lazzerotti A., Barzaghi S., Ocello L., Grimaldi C., Nicolosi M. L., Biondi A., and Cattoni A.

Abstract

Thyroid function disorders are the most frequently detected medical complication among patients with trisomy 21, with a reported prevalence ranging from 4-8% in childhood to 50% or more in adulthood. Over 1% of newborns with Down syndrome show clinical and/or biochemical signs consistent with congenital hypothyroidism, which is generally promptly identified by means of the neonatal screening. 30% of patients are diagnosed with transient congenital hypothyroidism, while 70% show a lifelong need for hormonal replacement therapy with levothyroxine. Moreover, non-autoimmune subclinical hypothyroidism is the most frequent finding, with reported prevalence ranging from 23 to 60%. It is still controversial whether subclinical hypothyroidism can be labelled as a pathological condition or the expression of a mere asymptomatic upwards shift of TSH, with no clinical impact. In addition, syndrome-related abnormalities in the mechanisms underlying immune tolerance result in a greater occurrence of autoimmune disorders. Graves’ disease and autoimmune hypothyroidism in Hashimoto thyroiditis are experienced by almost 30% of patients with trisomy 21. Finally, it is frequent that the latter clinical picture switches into hyperthyroidism and vice versa in an unpredictable clinical continuum. Given the increased lifelong risk of experiencing thyroid function disorders in children and adolescents with trisomy 21, a systematic periodic clinical and biochemical assessment is recommended to promptly detect and possibly treat pathological conditions.

Published
2023

9. Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

Author

Molinari, Silvia, Fossati, Chiara, Nicolosi, Maria Laura, Di Marco, Santo, Faraguna, Martha Caterina, Limido, Francesca, Ocello, Laura, Pellegrinelli, Claudia, Lattuada, Martina, Gazzarri, Alessandra, Lazzerotti, Alessandra, Sala, Debora, Vimercati, Chiara, Capitoli, Giulia, Daolio, Cecilia, Biondi, Andrea, Balduzzi, Adriana, and Cattoni, Alessandro

Subjects
DOWN syndrome, ENDOCRINE diseases, YOUNG adults, ADULTS, THYROID diseases, CHILDREN with intellectual disabilities, YOUNG women
Abstract

Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population. Additionally, male individuals with DS often show infertility, while women tend to experience menopause at an overall younger age than healthy controls. Given the recent outstanding improvements in the care of severe DS-related comorbidities, infant mortality has dramatically decreased, with a current average life expectancy exceeding 60 years. Accordingly, the awareness of the specificities of DS in this field is pivotal to timely detect endocrine dysfunctions and to undertake a prompt dedicated treatment. Notably, best practices for the screening and monitoring of pediatric endocrine disorders in DS are still controversial. In addition, specific guidelines for the management of metabolic issues along the challenging period of transitioning from pediatric to adult health care are lacking. By performing a review of published literature, we highlighted the issues specifically involving children and adolescent with DS, aiming at providing clinicians with a detailed up-to-date overview of the endocrine, metabolic and auxological disorders in this selected population, with an additional focus on the management of patients in the critical phase of the transitioning from childhood to adult care. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Thyroid Function Tests in Children and Adolescents With Trisomy 21: Definition of Syndrome-Specific Reference Ranges

Author

Cattoni, Alessandro, primary, Molinari, Silvia, additional, Capitoli, Giulia, additional, Masera, Nicoletta, additional, Nicolosi, Maria Laura, additional, Barzaghi, Silvia, additional, Marziali, Giulia, additional, Lazzerotti, Alessandra, additional, Gazzarri, Alessandra, additional, Vimercati, Chiara, additional, Sala, Debora, additional, Biondi, Andrea, additional, Galimberti, Stefania, additional, and Fossati, Chiara, additional

Published
2023
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11. Thyroid Function Tests in Children and Adolescents with Trisomy 21: Definition of Syndrome-Specific Reference Ranges

Author

Cattoni, Alessandro, Molinari, Silvia, Capitoli, Giulia, Masera, Nicoletta, Nicolosi, Maria Laura, Barzaghi, Silvia, Marziali, Giulia, Lazzerotti, Alessandra, Gazzarri, Alessandra, Vimercati, Chiara, Sala, Debora, Biondi, Andrea, Galimberti, Stefania, Fossati, Chiara, Cattoni, A, Molinari, S, Capitoli, G, Masera, N, Nicolosi, M, Barzaghi, S, Marziali, G, Lazzerotti, A, Gazzarri, A, Vimercati, C, Sala, D, Biondi, A, Galimberti, S, and Fossati, C

Subjects
thyrotropin, thyroid function test, Down syndrome, reference value, hypothyroidism, thyroxine
Abstract

Context: The lack of syndrome-specific reference ranges for thyroid function tests (TFT) among pediatric patients with Down syndrome (DS) results in an overestimation of the occurrence of hypothyroidism in this population. Objectives: a) to outline the age-dependent distribution of TFT among pediatric patients with DS; b) to describe the intraindividual variability of TFT over time; c) to assess the role of elevated TSH in predicting the future onset of overt hypothyroidism. Design: Retrospective, monocentric, observational analysis. Patients: We included 548 Down patients (0-18 years) longitudinally assessed between 1992 and 2022. Exclusion criteria: abnormal thyroid anatomy, treatments affecting TFT and positive thyroid auto-antibodies. Results: We determined the age-dependent distribution of TSH, FT3 and FT4 and outlined the relative nomograms for children with DS. Compared to non-syndromic patients, median TSH levels were statistically greater at any age (p

Published
2023

12. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini M, Della Paolera S, Zunica F, Bracaglia C, Giangreco M, Verdoni L, Meini A, Sottile R, Caorsi R, Zuccotti G, Fabi M, Montin D, Meneghel A, Consolaro A, Dellepiane RM, Maggio MC, La Torre F, Marchesi A, Simonini G, Villani A, Cimaz R, Ravelli A, Taddio A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities 'G. D’Alessandro', University of Palermo, Palermo Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan Italy, Veronica Bennato: U. O. Pediatria, Ospedale A, Manzoni Lecco, Francesca Biscaro: UOC Pediatria, Ospedale Ca’ Foncello, Treviso, Grazia Bossi: UOC Pediatria, Fondazione IRCCS Policlinico San Matteo, Pavia Italy, Andrea Campana: Bambino Gesù Children’s Hospital, Rome Italy, Maurizio Carone: UO Malattie Infettive, Ospedale Pediatrico ‘Giovanni XXIII’, Bari Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of Trieste, Trieste Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological Sciences, Sapeinza University of Rome, Polo Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O. Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s Hospital, Piazza S. Onofrio n. 4, 00165 Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency Unit, The Children Hospital, AO SS Antonio e Biago e C. Arrigo, Alessandria Italy, Giovanni Filocamo: Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Ilenia Floretta: Pediatria, Ospedale Santa Chiara, Trento Italy, Maria Loreta Foschini: SC Pediatria, PO SAN MICHELE AOBrotzu, Cagliari Italy, Marcello Lanari: Department of Pediatrics, University of Bologna, IRCCS S. Orsola-Malpighi Hospital, Bologna Italy, Bianca Lattanzi: SOD Pediatria, Ospedali Riuniti, Ancona Italy, Alessandra Lazzerotti: Clinica Pediatrica, Università Milano Bicocca, Fondazione MBBM - onlus c/o Ospedale San Gerardo, Monza Italy, Francesco Licciardi: Department of Pediatrics and Public Health, University of Turin, Turin Italy, Alessandra Manerba: Child Cardiology, ASST Spedali Civili di Brescia and University of Brescia, Brescia Italy, Savina Mannarino: Division of Cardiology, Children’s Hospital V Buzzi, ASST FBF Sacco, Achille Marino: Department of Pediatrics, Desio Hospital, ASST Monza, Desio Italy, Agostina Marolda: Pediatrics and Neonatology Dipartment, ASST Ovest Milanese, 'G. Fornaroli' Hospital, Magenta Milan, Laura Martelli: Paediatric Department, Hospital Papa Giovanni XXIII, Bergamo Italy, Giorgia Martini, Department of Woman’s and Child’s Health, University of Padova, Padua Italy, Angela Mauro: Department of Paediatrics, Emergency Department, Santobono-Pausilipon Children’s Hospital, Naples, Italy. Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, AOU Meyer, University of Florence, Florence, Italy. Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di Bologna, Francesca Minoia: Fondazione IRCCS Cà Granda, Alma Olivieri: Dipartimento della donna, del bambino e di chirurgia generale e specialistica, Università della Campania, 'L Vanvitelli, Napoli, Guido Pennoni: Dipartimento Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria e Neonatologia, ASST Lodi, Lodi, Francesca Ricci, Clinica Pediatrica, ASST Spedali Civili di Brescia e Università degli Studi di Brescia, Donato Rigante: Department of Pediatrics, Univarsità Cattolica Sacro Cuore, Matilde Rossi: UOC di Pediatrai e Neonatologia, Ospedale di Macerata, Macerata, Claudia Santagati: Dipartimento di Pediatria, Ospedale di Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child Health, Division of Paediatrics, ASST Grande Ospedale Metropolitano Niguarda, Milano Italy, Barbara Teruzzi: Maternal and Child Health, Elpidio Tierno: UOC di Pediatria, Dipartimento della Salute della Donna e del Bambin, AORN 'Sant’Anna e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento Materno-Infantile, Pediatria, ASST Bergamo-EST, Seriate Bergamo, Piero Valentini, Department of Pediatrics, Gianluca Vergine, UOC Pediatria Rimini, Ospedale Infermi, ASL Romagna, Rimini Italy., Cattalini, Marco, Della Paolera, Sara, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, La Torre, Francesco, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, Taddio, Andrea, Cattalini, M, Della Paolera, S, Zunica, F, Bracaglia, C, Giangreco, M, Verdoni, L, Meini, A, Sottile, R, Caorsi, R, Zuccotti, G, Fabi, M, Montin, D, Meneghel, A, Consolaro, A, Dellepiane, Rm, Maggio, Mc, La Torre, F, Marchesi, A, Simonini, G, Villani, A, Cimaz, R, Ravelli, A, Taddio, A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile, Care, Internal Medicine and Medical Specialities 'G., D’Alessandro', University of, Palermo, Palermo, Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico, - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care, Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Policlinico, Milan, Italy, Veronica Bennato: U. O., Pediatria, Ospedale, A, Manzoni, Lecco, Francesca Biscaro: UOC, Pediatria, Ospedale Ca’, Foncello, Treviso, Grazia Bossi: UOC, Pediatria, Fondazione IRCCS Policlinico San, Matteo, Pavia, Italy, Andrea Campana: Bambino Gesù Children’s, Hospital, Rome, Italy, Maurizio Carone: UO Malattie, Infettive, Ospedale Pediatrico ‘Giovanni, Xxiii’, Bari, Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of, Trieste, Trieste, Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological, Science, Sapeinza University of, Rome, Polo, Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O., Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s, Hospital, Piazza, S. Onofrio n. 4., 00165, Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency, Unit, The Children, Hospital, AO SS Antonio e Biago e C., Arrigo, Alessandria, Italy, Giovanni Filocamo: Fondazione IRCCS Cà, Granda, Ospedale Maggiore, Policlinico, Milano, Ilenia Floretta:, Pediatria, Ospedale Santa, Chiara, Trento, Italy, Maria Loreta Foschini: SC, Pediatria, PO SAN MICHELE, Aobrotzu, Cagliari, Italy, Marcello Lanari: Department of, Pediatric, University of, Bologna, IRCCS S., Orsola-Malpighi Hospital, Bologna, Italy, Bianca Lattanzi: SOD, Pediatria, Ospedali, Riuniti, Ancona, Italy, Alessandra Lazzerotti: Clinica, Pediatrica, Università Milano, Bicocca, Fondazione MBBM, - onlus c/o Ospedale San Gerardo, Monza, Italy, Francesco Licciardi: Department of Pediatrics and Public, Health, University of, Turin, Turin, Italy, Alessandra Manerba: Child, Cardiology, ASST Spedali Civili di Brescia and University of, Brescia, Brescia, Italy, Savina Mannarino: Division of, Cardiology, Children’s Hospital, V Buzzi, ASST FBF, Sacco, Achille Marino: Department of, Pediatric, Desio, Hospital, Asst, Monza, Desio, Italy, Agostina Marolda: Pediatrics and Neonatology, Dipartment, ASST Ovest, Milanese, 'G., Fornaroli' Hospital, Magenta, Milan, Laura Martelli: Paediatric, Department, Hospital Papa Giovanni, Xxiii, Bergamo, Italy, Giorgia, Martini, Department of Woman’s and Child’s, Health, University of, Padova, Padua, Italy, Angela Mauro: Department of, Paediatric, Emergency, Department, Santobono-Pausilipon Children’s, Hospital, Naples, Italy., Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, Aou, Meyer, University of, Florence, Florence, Italy., Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica, Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di, Bologna, Francesca Minoia: Fondazione IRCCS Cà, Granda, Alma Olivieri: Dipartimento della, Donna, del bambino e di chirurgia generale, e specialistica, Università della, Campania, 'L, Vanvitelli, Napoli, Claudio, Guido Pennoni: Dipartimento, Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria, e Neonatologia, Asst, Lodi, Lodi, Francesca, Ricci, Clinica, Pediatrica, ASST Spedali Civili di Brescia, e Università degli Studi di Brescia, Donato Rigante: Department of, Pediatric, Univarsità Cattolica Sacro, Cuore, Matilde Rossi: UOC di Pediatrai, e Neonatologia, Ospedale di, Macerata, Macerata, Claudia Santagati: Dipartimento di, Pediatria, Ospedale di, Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of, Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child, Health, Division of, Paediatric, ASST Grande Ospedale Metropolitano, Niguarda, Milano, Italy, Barbara Teruzzi: Maternal and Child, Health, Elpidio Tierno: UOC di, Pediatria, Dipartimento della Salute della Donna, e del Bambin, AORN 'Sant’Anna, e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento, Materno-Infantile, Pediatria, Asst, Bergamo-EST, Seriate, Bergamo, Piero, Valentini, Department of, Pediatric, Gianluca, Vergine, UOC Pediatria, Rimini, Ospedale, Infermi, Asl, Romagna, Rimini, Italy., Cattalini M., Della Paolera S., Zunica F., Bracaglia C., Giangreco M., Verdoni L., Meini A., Sottile R., Caorsi R., Zuccotti G., Fabi M., Montin D., Meneghel A., Consolaro A., Dellepiane R.M., Maggio M.C., La Torre F., Marchesi A., Simonini G., Villani A., Cimaz R., Ravelli A., Taddio A., Adamoli P., Alberelli M.C., Alizzi C., Barone P., Bennato V., Biscaro F., Bossi G., Campana A., Carone M., Civino A., Conti G., Rossi E.D., Del Giudice E., Dell'Anna A., De Luca M., Felici E., Filocamo G., Floretta I., Foschini M.L., Lanari M., Lattanzi B., Lazzerotti A., Licciardi F., Manerba A., Mannarino S., Marino A., Marolda A., Martelli L., Martini G., Mauro A., Mastrolia M.V., Mazza A., Miniaci A., Minoia F., Olivieri A., Pennoni G., Pignataro R., Ricci F., Rigante D., Rossi M., Santagati C., Soliani M., Sonego S., Sperli D., Stucchi S., Teruzzi B., Tierno E., Utytatnikova T., Valentini P., and Vergine G.

Subjects
Coronary artery abnormalities, Hypotension, Kawasaki disease, Multisystem inflammatory syndrome associated with coronavirus disease, Myocarditis, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, SARS-CoV-2, Age Distribution, Antirheumatic Agents, Aspirin, C-Reactive Protein, COVID-19, Child, Child, Preschool, Coronary Artery Disease, Cough, Diarrhea, Dyspnea, Female, Glucocorticoids, Heart Failure, Humans, Hyperferritinemia, Immunoglobulins, Intravenous, Immunologic Factors, Infant, Intensive Care Units, Pediatric, Interleukin 1 Receptor Antagonist Protein, Italy, Lymphopenia, Male, Mucocutaneous Lymph Node Syndrome, Platelet Aggregation Inhibitors, Shock, Systemic Inflammatory Response Syndrome, Tachypnea, Troponin T, Vomiting, lcsh:Diseases of the musculoskeletal system, coronary artery abnormalities, hypotension, kawasaki disease, multisystem inflammatory syndrome associated with coronavirus disease, myocarditis, pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, age distribution, antirheumatic agents, aspirin, C-reactive protein, child, preschool, coronary artery disease, cough, diarrhea, yspnea, female, glucocorticoids, heart failure, humans, hyperferritinemia, immunoglobulins, intravenous, immunologic factors, infant, intensive care units, pediatric, interleukin 1 receptor antagonist protein, italy, lymphopenia, male, mucocutaneous lymph node syndrome, platelet aggregation inhibitors, shock, systemic inflammatory response syndrome, tachypnea, troponin T, vomiting, Myocarditi, 030204 cardiovascular system & hematology, SARS-CoV-2, Kawasaki disease, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, Myocarditis, Hypotension, Multisystem inflammatory syndrome associated with coronavirus disease, Coronary artery abnormalities, Coronary artery disease, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Glucocorticoid, Immunologic Factor, Immunology and Allergy, Coronary artery abnormalitie, Fisher's exact test, Pediatric, biology, lcsh:RJ1-570, Antirheumatic Agent, Settore MED/38, Intensive Care Units, Cohort, symbols, Platelet aggregation inhibitor, Intravenous, Human, Research Article, medicine.medical_specialty, Immunoglobulins, 03 medical and health sciences, symbols.namesake, Rheumatology, Internal medicine, medicine, Preschool, 030203 arthritis & rheumatology, business.industry, Platelet Aggregation Inhibitor, lcsh:Pediatrics, medicine.disease, Systemic inflammatory response syndrome, Immunoglobulins, Intravenou, Pediatrics, Perinatology and Child Health, biology.protein, lcsh:RC925-935, business
Abstract

Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p Conclusion Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths.

Published
2020

13. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, M, Della Paolera, S, Zunica, F, Bracaglia, C, Giangreco, M, Verdoni, L, Meini, A, Sottile, R, Caorsi, R, Zuccotti, G, Fabi, M, Montin, D, Meneghel, A, Consolaro, A, Dellepiane, Rm, Maggio, Mc, La Torre, F, Marchesi, A, Simonini, G, Villani, A, Cimaz, R, Ravelli, A, Taddio, A, Adamoli, P, Alberelli, Mc, Alizzi, C, Barone, P, Bennato, V, Biscaro, F, Bossi, G, Campana, A, Carone, M, Civino, A, Conti, Giorgio, Dei Rossi, E, Del Giudice, E, Dell'Anna, A, De Luca, M, Felici, E, Filocamo, G, Floretta, I, Foschini, Ml, Lanari, M, Lattanzi, B, Lazzerotti, A, Licciardi, F, Manerba, A, Mannarino, S, Marino, A, Marolda, A, Martelli, L, Martini, G, Mauro, A, Mastrolia, Mv, Mazza, A, Miniaci, A, Minoia, F, Olivieri, A, Pennoni, G, Pignataro, R, Ricci, F, Rigante, Donato, Rossi, M, Santagati, C, Soliani, M, Sonego, S, Sperlì, D, Stucchi, S, Teruzzi, B, Tierno, E, Utytatnikova, T, Valentini, Piero, Vergine, G, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), Valentini P (ORCID:0000-0001-6095-9510), Cattalini, M, Della Paolera, S, Zunica, F, Bracaglia, C, Giangreco, M, Verdoni, L, Meini, A, Sottile, R, Caorsi, R, Zuccotti, G, Fabi, M, Montin, D, Meneghel, A, Consolaro, A, Dellepiane, Rm, Maggio, Mc, La Torre, F, Marchesi, A, Simonini, G, Villani, A, Cimaz, R, Ravelli, A, Taddio, A, Adamoli, P, Alberelli, Mc, Alizzi, C, Barone, P, Bennato, V, Biscaro, F, Bossi, G, Campana, A, Carone, M, Civino, A, Conti, Giorgio, Dei Rossi, E, Del Giudice, E, Dell'Anna, A, De Luca, M, Felici, E, Filocamo, G, Floretta, I, Foschini, Ml, Lanari, M, Lattanzi, B, Lazzerotti, A, Licciardi, F, Manerba, A, Mannarino, S, Marino, A, Marolda, A, Martelli, L, Martini, G, Mauro, A, Mastrolia, Mv, Mazza, A, Miniaci, A, Minoia, F, Olivieri, A, Pennoni, G, Pignataro, R, Ricci, F, Rigante, Donato, Rossi, M, Santagati, C, Soliani, M, Sonego, S, Sperlì, D, Stucchi, S, Teruzzi, B, Tierno, E, Utytatnikova, T, Valentini, Piero, Vergine, G, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), and Valentini P (ORCID:0000-0001-6095-9510)

Abstract

Background: There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods: The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARSCoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste; AOU Meyer, Florence;IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results: One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/ non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more freque

Published
2021

16. Acute myocardial infarction - from territory to definitive treatment in an Italian province

Author

Enrico Giuliani, Maria Grazia Modena, Alberto Barbieri, E Guerri, G Fantini, Carlo Serantoni, and Sara Lazzerotti

Subjects
medicine.medical_specialty, Percutaneous transluminal coronary angioplasty, business.industry, Health Policy, Treatment process, Public Health, Environmental and Occupational Health, medicine.disease, Group B, Surgery, Teaching hospital, Elevated st segment, Internal medicine, medicine, Ambulance service, Myocardial infarction, business
Abstract

Rationale, aims and objectives Early reperfusion is the key to therapeutic success in acute myocardial infarction (AMI). The duration of the process is influenced by various factors which in most of the cases are not easily modifiable. The aim of this study is to analyse AMI treatment process duration to identify determining factors. The objective is to better exploit time intervals imposed by spatial distance from the hospital. Method One-year data regarding acute coronary syndromes with elevated ST segment for patients presenting to Policlinico teaching hospital (Modena, Italy) have been studied. Patients were divided into two groups for hospital access: A – ambulance access to Policlinico emergency room (ER); B – self-referral to ER. Results A total of 141 patients have undergone percutaneous transluminal coronary angioplasty for AMI at Policlinico, 106 males, 35 females (58.1% males in group A, 82.7% in B, P 0.002), with an average age of 66.09 ± 14.30 years in group A and 60.90 ± 13.47 in B (P 0.047). Mean pre-hospital time for group A was 122.54 ± 130.69 minutes and B 171.49 ± 353.60 (P 0.25), mean hospital time in group A was 196.03 ± 67.66 and B 255.14 ± 113.16 (P

Published
2010

17. Increasing evidence of hereditary lymphedema caused by CELSR1 loss‐of‐function variants.

Author

Maltese, Paolo E., Michelini, Sandro, Ricci, Maurizio, Maitz, Silvia, Fiorentino, Alessandro, Serrani, Roberta, Lazzerotti, Alessandra, Bruson, Alice, Paolacci, Stefano, Benedetti, Sabrina, and Bertelli, Matteo

Abstract

A whole exome sequencing approach was recently used to detect a CELSR1 truncating variant associated with lymphedema in a large pedigree. Since this first report, no other similar associations have been reported in the literature. Here, we present the genetic results of 95 probands tested using a next generation sequencing panel that covered all known lymphedema‐associated genes, including CELSR1. Five out of 95 probands (5.3%) were found to carry novel loss‐of‐function variants in CELSR1. Family segregation studies were possible in four out of five probands and showed possible sex‐specific differences: CELSR1 variants showed almost complete penetrance in females and were associated with early‐onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition. Since the percentage of lymphedema patients carrying CELSR1 variants is not negligible, we do not hesitate to recommend including this gene in routine genetic testing. [ABSTRACT FROM AUTHOR]

Published
2019
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18. Education in anesthesia: three years of online logbook implementation in an Italian school

Author

Alberto Farinetti, Alberto Barbieri, Enrico Giuliani, Matteo Villani, and Sara Lazzerotti

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, Observational Trial, education, MEDLINE, Documentation, Online Systems, Education, Anesthesiology, medicine, Humans, Training, Registries, Retrospective Studies, Medicine(all), Medical education, training, logbook, anesthesiology, business.industry, Internship and Residency, Retrospective cohort study, General Medicine, Problem-Based Learning, Online logbook, Residency, Problem-based learning, Italy, Family medicine, Anesthesia, Observational study, Female, Clinical Competence, business, Logbook, Research Article
Abstract

Background The progress of physicians through residency training in anesthesiology can be monitored using an online logbook. The aim of this investigation was to establish how residents record clinical activities in their computerized web-based logbooks during their first years of anesthesiology training. Methods For this retrospective observational trial, the ESSE 3© digital registry of the University of Modena and Reggio Emilia, Italy was used to record all anesthesia-related activities performed by three consecutive year-groups of residents (Groups A, B and C) between 2009 and 2012. The ratio of activities to sessions was chosen as a surrogate measure of compliance. Results A total of 41,348 actions were analyzed. The ratio of activities to sessions showed a statistically significant decline for all activities concerning the perioperative management of anesthesia, with a steady reduction from the first to the last year-group (Group A 23.7, Group B 14.1 and Group C 2.2; p = 0.003). Conclusions An online activities logbook is a useful tool for recording and assessing the clinical activities undertaken by each resident during residency training in anesthesiology.

Published
2013

19. OATS IN THE DIET OF CHILDREN WITH CELIAC DISEASE: PRELIMINARY RESULTS OF A RANDOMIZED, DOUBLE-BLIND, MULTICENTER ITALIAN STUDY

Author

Lionetti, E., Gatti, S., Caporelli, N., Grilli, M., Galeazzi, T., Francavilla, R., Fontana, C., Malamisura, B., Passaro, T., Barbato, Maria, DI CAMILLO, Chiara, Celletti, I., Leoni, S., Panceri, R., Lazzerotti, A., Roggero, P., Iacono, G., Lospalluti, M. L., Kleon, W., La Rosa, M., Tomarchio, S., Brusca, I., Restani, P., Pe˜nas1, E., Budelli, A., Manferdelli, S., Grinzato, A., Gesuita, R., Carle, F., and Catassi, C.

Published
2012

20. Log-book implementation in anaesthesiology residency training: a retrospective analysis

Author

Alberto Barbieri, Enrico Giuliani, and Sara Lazzerotti

Subjects
Medical education, medicine.medical_specialty, residency training, business.industry, log-book, anaesthesiology, MEDLINE, Internship and Residency, Retrospective cohort study, Documentation, General Medicine, Education, Anesthesiology, Family medicine, Retrospective analysis, Humans, Medicine, business, Residency training, Retrospective Studies
Published
2012

21. Oats in the diet of children with celiac disease: preliminary results of a randomized, double-blind, multicenter italian study

Author

Gatti, S, Lionetti, E, Caporelli, N., Grilli, M, Galeazzi, T, Francavilla, R, Fico, S, Fontana, C, Malamisura, B, Passaro, T, Barbato, Maria, Celletti, I, DI CAMILLO, Chiara, Valitutti, Francesco, Panceri, R., Lazzerotti, A., Roggero, P., Iacono, G, Lospalluti, L, Kleonh W, ., La Rosa, B, Brusca, I, Restani, P., Vacca, E, Manferdelli, S, Gesuita, R, Carle, F, and Catassi, C.

Published
2011

24. PP87 OATS IN THE DIET OF CHILDREN WITH CELIAC DISEASE: PRELIMINARY RESULTS OF A RANDOMIZED, DOUBLE-BLIND, MULTICENTER ITALIAN STUDY

Author

S. Gatti, E. Lionetti, N. Caporelli, M. Grilli, T. Galeazzi, R. Francavilla, S. Fico, C. Fontana, B. Malamisura, T. Passaro, M. Barbato, I. Celletti, C. Di Camillo, F. Valitutti, R. Panceri, A. Lazzerotti, P. Roggero, G. Iacono, M.L. Lospalluti, W. Kleon, M. La Rosa, I. Brusca, P. Restani, E. Vacca, S. Manferdelli, R. Gesuita, F. Carle, and C. Catassi

Subjects
Hepatology, Gastroenterology
Published
2011

26. PP87 OATS IN THE DIET OF CHILDREN WITH CELIAC DISEASE: PRELIMINARY RESULTS OF A RANDOMIZED, DOUBLE-BLIND, MULTICENTER ITALIAN STUDY

Author

Gatti, S., primary, Lionetti, E., additional, Caporelli, N., additional, Grilli, M., additional, Galeazzi, T., additional, Francavilla, R., additional, Fico, S., additional, Fontana, C., additional, Malamisura, B., additional, Passaro, T., additional, Barbato, M., additional, Celletti, I., additional, Di Camillo, C., additional, Valitutti, F., additional, Panceri, R., additional, Lazzerotti, A., additional, Roggero, P., additional, Iacono, G., additional, Lospalluti, M.L., additional, Kleon, W., additional, La Rosa, M., additional, Brusca, I., additional, Restani, P., additional, Vacca, E., additional, Manferdelli, S., additional, Gesuita, R., additional, Carle, F., additional, and Catassi, C., additional

Published
2011
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