1,005 results on '"Suppiej A"'
Search Results
2. Factors associated with mortality and neurodevelopmental impairment at 12 months in asphyxiated newborns: a retrospective cohort study in rural Tanzania from January 2019 to June 2022
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Elisa Manzini, Martina Borellini, Paolo Belardi, Evodia Mlawa, Emmanuel Kadinde, Christina Mwibuka, Francesco Cavallin, Daniele Trevisanuto, and Agnese Suppiej
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Neonatal asphyxia ,Low- and middle-income countries ,Mortality ,Risk factors ,Post-discharge follow up ,Neurodevelopmental impairment ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Worldwide about 2.3 million newborns still die in the neonatal period and the majority occurs in low- and middle-income countries (LMICs). Intrapartum-related events account for 24% of neonatal mortality. Of these events, intrapartum birth asphyxia with subsequent neonatal encephalopathy is the main cause of child disabilities in LMICs. Data on neurodevelopmental outcome and early risk factors are still missing in LMICs. This study aimed at investigating the factors associated with mortality, risk of neurodevelopmental impairment and adherence to follow-up among asphyxiated newborns in rural Tanzania. Methods This retrospective observational cohort study investigated mortality, neurodevelopmental risk and adherence to follow-up among asphyxiated newborns who were admitted to Tosamaganga Hospital (Tanzania) from January 2019 to June 2022. Neurodevelopmental impairment was assessed using standardized Hammersmith neurologic examination. Admission criteria were Apgar score 1500 g. Babies with clinically visible congenital malformations were excluded. Comparisons between groups were performed using the Mann-Whitney test, the Chi-square test, and the Fisher test. Results Mortality was 19.1% (57/298 newborns) and was associated with outborn (p
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- 2024
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3. Factors associated with mortality and neurodevelopmental impairment at 12 months in asphyxiated newborns: a retrospective cohort study in rural Tanzania from January 2019 to June 2022
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Manzini, Elisa, Borellini, Martina, Belardi, Paolo, Mlawa, Evodia, Kadinde, Emmanuel, Mwibuka, Christina, Cavallin, Francesco, Trevisanuto, Daniele, and Suppiej, Agnese
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- 2024
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4. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
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Di Iorio, Enzo, Adamo, Ginevra Giovanna, Sorrentino, Ugo, De Nadai, Katia, Barbaro, Vanessa, Mura, Marco, Pellegrini, Marco, Boaretto, Francesca, Tavolato, Marco, Suppiej, Agnese, Nasini, Francesco, Salviati, Leonardo, and Parmeggiani, Francesco
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- 2024
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5. Cognitive dysfunction in pediatric multiple sclerosis
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Suppiej A and Cainelli E
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Agnese Suppiej,1 Elisa Cainelli1,2 1Child Neurology and Clinical Neurophysiology, Pediatric University Hospital, Padua, Italy; 2Lifespan Cognitive Neuroscience Laboratory (LCNL), Department of General Psychology, University of Padua, Italy Abstract: Cognitive and neuropsychological impairments are well documented in adult multiple sclerosis (MS). Research has only recently focused on cognitive disabilities in pediatric cases, highlighting some differences between pediatric and adult cases. Impairments in several functions have been reported in children, particularly in relation to attention, processing speed, visual–motor skills, and language. Language seems to be particularly vulnerable in pediatric MS, unlike in adults in whom it is usually preserved. Deficits in executive functions, which are considered MS-specific in adults, have been inconsistently reported in children. In children, as compared to adults, the relationship between cognitive dysfunctions and the two other main symptoms of MS, fatigue and psychiatric disorders, was poorly explored. Furthermore, data on the correlations of cognitive impairments with clinical and neuroimaging features are scarce in children, and the results are often incongruent; interestingly, involvement of corpus callosum and reduced thalamic volume differentiated patients identified as having a cognitive impairment from those without a cognitive impairment. Further studies about pediatric MS are needed in order to better understand the impact of the disease on brain development and the resulting effect on cognitive functions, particularly with respect to different therapeutic strategies. Keywords: central nervous system, child, deficit, IQ, inflammatory demyelination, neuropsychological
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- 2014
6. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
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Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, and Francesco Parmeggiani
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Inherited retinal dystrophy ,Autosomal recessive retinitis pigmentosa ,EYS gene variant ,Pseudodominant inheritance ,Genetic testing ,Copy-number variation ,Medicine ,Science - Abstract
Abstract Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses of central vision. To investigate this apparently autosomal dominant pedigree, next generation sequencing (NGS) of a custom panel of RP-related genes was performed, further enhanced by bioinformatic detection of copy-number variations (CNVs). Unexpectedly, all patients had a compound heterozygosity involving two known pathogenic EYS variants i.e., the exon 33 frameshift mutation c.6714delT and the exon 29 deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del, with the exception of the youngest son who was homozygous for the above-detailed frameshift mutation. No pathologic eye conditions were instead observed in the proband’s husband, who was a heterozygous healthy carrier of the same c.6714delT variant in exon 33 of EYS gene. These findings provide evidence that pseudodominant pattern of inheritance can hide an autosomal recessive RP partially or totally due to CNVs, recommending CNVs study in those pedigrees which remain genetically unsolved after the completion of NGS or whole exome sequencing analysis.
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- 2024
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7. Correction: Long-Term Follow-Up Before and During Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7
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Suppiej, Agnese, Ceccato, Chiara, Tzekov, Radouil, Cermakova, Iveta, Parmeggiani, Francesco, Bellucci, Gianmarco, Salvetti, Marco, Zesiewicz, Theresa, Ristori, Giovanni, and Romano, Silvia
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- 2024
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8. Pediatric acute-onset neuropsychiatric syndrome and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections: a delphi study and consensus document about definition, diagnostic criteria, treatment and follow-up
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Roberto Grandinetti, Nicole Mussi, Simone Pilloni, Greta Ramundo, Angela Miniaci, Emanuela Turco, Benedetta Piccolo, Maria Elena Capra, Roberta Forestiero, Serena Laudisio, Giovanni Boscarino, Laura Pedretti, Martina Menoni, Giuditta Pellino, Silvia Tagliani, Andrea Bergomi, Francesco Antodaro, Maria Cristina Cantù, Maria Teresa Bersini, Sandra Mari, Franco Mazzini, Giacomo Biasucci, Agnese Suppiej, and Susanna Esposito
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group A streptococcus ,neuroinflammation ,obsessive-compulsive disorder ,pandas ,pans ,tics ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) are broad diagnoses that encompass a range of sudden-onset neuropsychiatric symptoms in children, which can include obsessive-compulsive disorder (OCD), tics, anxiety, emotional instability, and cognitive difficulties. Unlike PANDAS, PANS is not strictly linked to group A streptococcal infections but can be triggered by various infectious or environmental factors. Lights and shadows remain upon the management of children with PANS and PANDAS and there is no clear consensus regarding definition, diagnostic criteria, treatment, and follow-up. The aim of the present study was to evaluate the level of agreement on PANS and PANDAS definition, diagnostic criteria, treatment and follow-up and to assess on the basis of recent studies whether there is a need to modify the current recommendations used by primary care pediatricians and hospital pediatricians in clinical practice in order to improve outcomes. Using the Delphi method, this consensus provides shared indications on PANS and PANDAS management in pediatric age, based on the most updated literature. This work represents, in our opinion, the most complete and up-to-date information on the diagnosis of PANS and PANDAS, as well as consensus statements about several aspects of clinical care. Undoubtedly, more randomized and controlled trials are needed in the pediatric population to better define the best management, also in terms of adequate follow-up examinations and period of observation.
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- 2024
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9. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
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Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, and Duccio Maria Cordelli
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Medicine - Abstract
Abstract Background Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern. Moreover, a literature review differentiating the different types of neuroimaging data was conducted for comparison with our population. Results Thirty-one individuals were enrolled (17 females/14 males; age range 0.1–17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14. Conclusions Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.
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- 2024
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10. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022
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Matteo Puntoni, Giuseppe Maglietta, Caterina Caminiti, Angela Miniaci, Marcello Lanari, Fabio Caramelli, Federico Marchetti, Alessandro De Fanti, Lorenzo Iughetti, Giacomo Biasucci, Agnese Suppiej, Andrea Miceli, Chiara Ghizzi, Gianluca Vergine, Melodie Aricò, Marcello Stella, Susanna Esposito, the Emilia-Romagna Paediatric COVID-19 network, Francesca Diodati, Chiara Maria Palo, Luca Bertelli, Giovanni Biserni, Angela Troisi, Alessandra Iacono, Federico Bonvicini, Domenico Bartolomeo, Andrea Trombetta, Tommaso Zini, Nicoletta de Paulis, Cristina Forest, Battista Guidi, Francesca Di Florio, Enrico Valletta, Francesco Accomando, Greta Ramundo, Alberto Argentiero, Valentina Fainardi, and Michela Deolmi
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COVID-19 epidemiology ,Non-Pharmaceutical Intervention ,quasi-experimental design ,Interrupted Time Series regression analysis ,Diseases of the Respiratory System ,mental disorders ,Public aspects of medicine ,RA1-1270 - Abstract
BackgroundThe use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important.MethodsThis is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event. The 3 years preceding NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (SC) and a subsequent mitigation measures phase (MM) with milder restrictions. Interrupted Time Series (ITS) regression analysis was used to calculate PED Standardized Incidence Rate Ratios (SIRR) on the diagnostic categories exhibiting the greatest frequency and/or variation.ResultsIn the 60 months of the study there were 765,215 PED visits. Compared to the pre-pandemic rate, overall PED presentations dropped by 58 and 39% during SC and MM, respectively. “Symptoms, signs and Ill-defined conditions,” “Injury and poisoning” and “Diseases of the Respiratory System” accounted for 74% of the reduction. A different pattern was instead seen for “Mental Disorders,” which exhibited the smallest decrease during SC, and is the only category which rose already at the end of SC. ITS analysis confirmed the strong decrease during SC (level change, IRR 0.17, 95%CI 0.12–0.27) and a significant increase in MM (slope change, IRR 1.23, 95%CI 1.13–1.33), with the sharpest decline (−94%) and rise (+36%) observed in the “Diseases of the Respiratory System” category. Mental Disorders showed a significant increasing trend of 1% monthly over the whole study period exceeding pre-pandemic levels at the end of MM. Females and adolescents showed higher increasing rates both in SC and MM.ConclusionNPIs appear to have influenced PED attendance in different ways according to diagnostic categories, mirroring different mechanisms of action. These effects are beneficial in some cases and harmful in others, and establishing a clear balance between pros and cons is a difficult task for public health decision makers. The role of NPIs on PED use appropriateness deserves investigation. The rise in pediatric mental disorders independent of the pandemic makes interventions addressing these issues urgent.
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- 2024
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11. The development of checklists and reference charts for activities of daily living of normal developing children
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Suppiej, Agnese, Tessari, Laura, Fasolo, Adriano, Casarotto, Martina, Borghini, Carlotta, Gregori, Dario, and Mercuriali, Elena
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- 2024
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12. Prospective assessment of early developmental markers and their association with neuropsychological impairment
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Cainelli, Elisa, Vedovelli, Luca, Trevisanuto, Daniele, Suppiej, Agnese, and Bisiacchi, Patrizia
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- 2023
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13. Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review
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Lanza, Martina, Incagli, Francesca, Ceccato, Chiara, Reffo, Maria Eleonora, Mercuriali, Elena, Parmeggiani, Francesco, Pagliano, Emanuela, Saletti, Veronica, Leonardi, Matilde, Suppiej, Agnese, Dollfus, Hélène, LeBreton, David, Finger, Robert P., Leroy, Bart Peter, Zemaitiene, Reda, Nowomiejska, Katarzyna, and Guastafierro, Erika
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- 2024
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14. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric hospital admissions in North Italian hospitals, 2017 to 2022: a quasi-experimental study interrupted time-series analysis
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Giuseppe Maglietta, Matteo Puntoni, Caterina Caminiti, Andrea Pession, Marcello Lanari, Fabio Caramelli, Federico Marchetti, Alessandro De Fanti, Lorenzo Iughetti, Giacomo Biasucci, Agnese Suppiej, Andrea Miceli, Chiara Ghizzi, Gianluca Vergine, Melodie Aricò, Marcello Stella, Susanna Esposito, Emilia-Romagna Paediatric COVID-19 network, Francesca Diodati, Chiara Maria Palo, Angela Miniaci, Luca Bertelli, Giovanni Biserni, Angela Troisi, Alessandra Iacono, Federico Bonvicini, Domenico Bartolomeo, Andrea Trombetta, Tommaso Zini, Nicoletta de Paulis, Cristina Forest, Battista Guidi, Francesca Di Florio, Enrico Valletta, Francesco Accomando, Greta Ramundo, Alberto Argentiero, Valentina Fainardi, and Michela Deolmi
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COVID-19 epidemiology ,non-pharmaceutical intervention (NPI) ,quasi-experimental design ,observational study ,Interrupted Time Series (ITS) regression analysis ,time series analysis ,Public aspects of medicine ,RA1-1270 - Abstract
BackgroundThe use of Non-Pharmaceutical Interventions (NPIs), such as lockdowns, social distancing and school closures, against the COVID-19 epidemic is debated, particularly for the possible negative effects on vulnerable populations, including children and adolescents. This study therefore aimed to quantify the impact of NPIs on the trend of pediatric hospitalizations during 2 years of pandemic compared to the previous 3 years, also considering two pandemic phases according to the type of adopted NPIs.MethodsThis is a multicenter, quasi-experimental before-after study conducted in 12 hospitals of the Emilia-Romagna Region, Northern Italy, with NPI implementation as the intervention event. The 3 years preceding the beginning of NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (up to September 2020) and a subsequent mitigation measures phase with less stringent restrictions. School closure was chosen as delimitation as it particularly concerns young people. Interrupted Time Series (ITS) regression analysis was applied to calculate Hospitalization Rate Ratios (HRR) on the diagnostic categories exhibiting the greatest variation. ITS allows the estimation of changes attributable to an intervention, both in terms of immediate (level change) and sustained (slope change) effects, while accounting for pre-intervention secular trends.ResultsOverall, in the 60 months of the study there were 84,368 cases. Compared to the pre-pandemic years, statistically significant 35 and 19% decreases in hospitalizations were observed during school closure and in the following mitigation measures phase, respectively. The greatest reduction was recorded for “Respiratory Diseases,” whereas the “Mental Disorders” category exhibited a significant increase during mitigation measures. ITS analysis confirms a high reduction of level change during school closure for Respiratory Diseases (HRR 0.19, 95%CI 0.08–0.47) and a similar but smaller significant reduction when mitigation measures were enacted. Level change for Mental Disorders significantly decreased during school closure (HRR 0.50, 95%CI 0.30–0.82) but increased during mitigation measures by 28% (HRR 1.28, 95%CI 0.98–1.69).ConclusionOur findings provide information on the impact of COVID-19 NPIs which may inform public health policies in future health crises, plan effective control and preventative interventions and target resources where needed.
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- 2024
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15. Drug resistant epilepsies: A multicentre case series of steroid therapy
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Falsaperla, Raffaele, Collotta, Ausilia Desiree, Marino, Simona D., Sortino, Vincenzo, Leonardi, Roberta, Privitera, Grete Francesca, Pulvirenti, Alfredo, Suppiej, Agnese, Vecchi, Marilena, Verrotti, Alberto, Farello, Giovanni, Spalice, Alberto, Elia, Maurizio, Spitaleri, Orazio, Micale, Marco, Mailo, Janette, and Ruggieri, Martino
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- 2024
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16. Acute Respiratory Tract Infections (ARTIs) in Children after COVID-19-Related Social Distancing: An Epidemiological Study in a Single Center of Southern Italy
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Raffaele Falsaperla, Vincenzo Sortino, Daria La Cognata, Chiara Barberi, Giovanni Corsello, Cristina Malaventura, Agnese Suppiej, Ausilia Desiree Collotta, Agata Polizzi, Patrizia Grassi, and Martino Ruggieri
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epidemiology ,respiratory infections ,BioFire® FilmArray® Respiratory Panel 2.1 Plus ,multiplex PCR ,RSV ,rhinovirus ,Medicine (General) ,R5-920 - Abstract
In Sicily (Italy), respiratory syncytial virus (RSV), rhinovirus (HRV), and influenza virus triggered epidemics among children, resulting in an increase in acute respiratory tract infections (ARTIs). Our objective was to capture the epidemiology of respiratory infections in children, determining which pathogens were associated with respiratory infections following the lockdown and whether there were changes in the epidemiological landscape during the post-SARS-CoV-2 pandemic era. Materials and Methods: We analyzed multiplex respiratory viral PCR data (BioFire® FilmArray® Respiratory Panel 2.1 Plus) from 204 children presenting with respiratory symptoms and/or fever to our Unit of Pediatrics and Pediatric Emergency. Results: Viruses were predominantly responsible for ARTIs (99%), with RSV emerging as the most common agent involved in respiratory infections, followed by human rhinovirus/enterovirus and influenza A. RSV and rhinovirus were also the primary agents in coinfections. RSV predominated during winter months, while HRV/EV exhibited greater prevalence than RSV during the fall. Some viruses spread exclusively in coinfections (human coronavirus NL63, adenovirus, metapneumovirus, and parainfluenza viruses 1–3), while others primarily caused mono-infections (influenza A and B). SARS-CoV-2 was detected equally in both mono-infections (41%) and coinfections (59%). Conclusions: Our analysis underlines the predominance of RSV and the importance of implementing preventive strategies for RSV.
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- 2024
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17. Riluzole in Progressive Cerebellar Ataxias
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Romano, Silvia, Romano, Carmela, Morena, Emanuele, Troili, Fernanda, Suppiej, Agnese, Salvetti, Marco, Ristori, Giovanni, Manto, Mario, Series Editor, Soong, Bing-wen, editor, Brice, Alexis, editor, and Pulst, Stefan M., editor
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- 2023
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18. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls
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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
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thrombosis ,stroke ,children ,pediatric ,registry ,thromboembolism ,Pediatrics ,RJ1-570 - Published
- 2024
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19. Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
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Santorelli Filippo Maria, Garavaglia Barbara, Cardona Francesco, Nardocci Nardo, Bernardina Bernardo Dalla, Sartori Stefano, Suppiej Agnese, Bertini Enrico, Claps Dianela, Battini Roberta, Biancheri Roberta, Filocamo Mirella, Pezzini Francesco, and Simonati Alessandro
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Childhood NCL ,NCL Genes ,Epidemiology ,Italy ,Medicine - Abstract
Abstract Background To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations. Methods A cohort of NCL patients was recruited through CLNet, a nationwide network of child neurology units. Diagnosis was based on clinical and pathological criteria following ultrastructural investigation of peripheral tissues. Molecular confirmation was obtained during the diagnostic procedure or, when possible, retrospectively. Results One hundred eighty-three NCL patients from 156 families were recruited between 1966 and 2010; 124 of these patients (from 88 families) were tested for known NCL genes, with 9.7% of the patients in this sample having not a genetic diagnosis. Late infantile onset NCL (LINCL) accounted for 75.8% of molecularly confirmed cases, the most frequent form being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL patients accounted for 17.7% of this cohort, a smaller proportion than found in other European countries. Gene mutations predicted severe protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 cases. An incidence rate of 0.98/100,000 live births was found in 69 NCL patients born between 1992 and 2004, predicting 5 new cases a year. Prevalence was 1.2/1,000,000. Conclusions Descriptive epidemiology data indicate a lower incidence of NCLs in Italy as compared to other European countries. A relatively high number of private mutations affecting all NCL genes might explain the genetic heterogeneity. Specific gene mutations were associated with severe clinical courses in selected NCL forms only.
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- 2013
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20. Glucose-to-lactate ratio and neurodevelopment in infants with hypoxic-ischemic encephalopathy: an observational study
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Galderisi, Alfonso, Tordin, Mattia, Suppiej, Agnese, Cainelli, Elisa, Baraldi, Eugenio, and Trevisanuto, Daniele
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- 2023
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21. Mood and anxiety spectrum disorders detected by neuropsychiatric interviews in young adults born preterm: A prospective cohort study
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Bacchin, Maria Elena, Vitaliti, Giovanna, Malaventura, Cristina, Meggiolaro, Silvia, Zanardo, Vincenzo, Ballardini, Elisa, Cainelli, Elisa, and Suppiej, Agnese
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- 2023
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22. Trajectory of serum bilirubin in offspring of women with gestational diabetes mellitus
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Zanardo, Vincenzo, Suppiej, Agnese, Tortora, Domenico, Sandri, Andrea, Severino, Lorenzo, Mezzalira, Laura, Grego, Lisa, and Straface, Gianluca
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- 2023
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23. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
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Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, null, null, Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, and null, null
- Abstract
Background In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD.Main body Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care.Conclusion Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents.
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- 2024
24. Sleep spindles across youth affected by schizophrenia or anti-N-methyl-D-aspartate-receptor encephalitis
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Maria E. Dimitriades, Andjela Markovic, Silvano R. Gefferie, Ashura Buckley, David I. Driver, Judith L. Rapoport, Margherita Nosadini, Kevin Rostasy, Stefano Sartori, Agnese Suppiej, Salome Kurth, Maurizia Franscini, Susanne Walitza, Reto Huber, Leila Tarokh, Bigna K. Bölsterli, and Miriam Gerstenberg
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psychosis ,schizophrenia ,anti-NMDAR encephalitis ,sleep EEG ,sleep spindles ,thalamocortical network ,Psychiatry ,RC435-571 - Abstract
BackgroundSleep disturbances are intertwined with the progression and pathophysiology of psychotic symptoms in schizophrenia. Reductions in sleep spindles, a major electrophysiological oscillation during non-rapid eye movement sleep, have been identified in patients with schizophrenia as a potential biomarker representing the impaired integrity of the thalamocortical network. Altered glutamatergic neurotransmission within this network via a hypofunction of the N-methyl-D-aspartate receptor (NMDAR) is one of the hypotheses at the heart of schizophrenia. This pathomechanism and the symptomatology are shared by anti-NMDAR encephalitis (NMDARE), where antibodies specific to the NMDAR induce a reduction of functional NMDAR. However, sleep spindle parameters have yet to be investigated in NMDARE and a comparison of these rare patients with young individuals with schizophrenia and healthy controls (HC) is lacking. This study aims to assess and compare sleep spindles across young patients affected by Childhood-Onset Schizophrenia (COS), Early-Onset Schizophrenia, (EOS), or NMDARE and HC. Further, the potential relationship between sleep spindle parameters in COS and EOS and the duration of the disease is examined.MethodsSleep EEG data of patients with COS (N = 17), EOS (N = 11), NMDARE (N = 8) aged 7–21 years old, and age- and sex-matched HC (N = 36) were assessed in 17 (COS, EOS) or 5 (NMDARE) electrodes. Sleep spindle parameters (sleep spindle density, maximum amplitude, and sigma power) were analyzed.ResultsCentral sleep spindle density, maximum amplitude, and sigma power were reduced when comparing all patients with psychosis to all HC. Between patient group comparisons showed no differences in central spindle density but lower central maximum amplitude and sigma power in patients with COS compared to patients with EOS or NMDARE. Assessing the topography of spindle density, it was significantly reduced over 15/17 electrodes in COS, 3/17 in EOS, and 0/5 in NMDARE compared to HC. In the pooled sample of COS and EOS, a longer duration of illness was associated with lower central sigma power.ConclusionsPatients with COS demonstrated more pronounced impairments of sleep spindles compared to patients with EOS and NMDARE. In this sample, there is no strong evidence that changes in NMDAR activity are related to spindle deficits.
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- 2023
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25. Parental Satisfaction with the Quality of Care in an Early Intervention Service for Children with Visual Impairment: A Retrospective Longitudinal Study
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Tiziana Battistin, Elena Mercuriali, Carlotta Borghini, Maria Eleonora Reffo, and Agnese Suppiej
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early intervention ,pediatrics ,infants ,vision ,low ,blindness ,Pediatrics ,RJ1-570 - Abstract
The fundamental role of vision during development and the nurturing role of early intersubjectivity have enabled the Robert Hollman Foundation to develop an early intervention program providing holistic support to visually impaired children and their families, where fostering parent-infant interactions is at the heart of our care. The aim of this study is to understand how parents perceive this approach. It is an eleven-year retrospective study of children following the Robert Hollman Foundation’s early intervention program, in which parents’ (n = 1086) perceptions of quality of care were measured through the administration of a specifically designed 4-point scale questionnaire. Annual longitudinal trends of parents’ perceptions were calculated for every single response. Parents reported a very high satisfaction value in 21/23 questions (Mean > 3.7 out of a maximum score of 4, with the highest scores in human and soft skills of professionals) with a statistically positive trend (p < 0.05), throughout the period considered. Our core approach, based on an individualized nurturing relational support, has been appreciated and confirmed by the high satisfaction reported in the questionnaires by parents of children with visual impairment. We therefore hypothesize that parent-infant relationship-based and individualized approaches may help parents achieve better health, well-being, and quality of daily life for their children.
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- 2024
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26. Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)
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Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti, Naire Sansotta, Silvia Caimmi, Salvatore Savasta, Giovanna Zuin, Marina Di Stefano, Silvia Provera, Angelo Campanozzi, Paolo Rossi, Simona Gatti, Mara Corpino, Patrizia Alvisi, Stefano Martelossi, Agnese Suppiej, Paolo Gandullia, Alberto Verrotti, Gianluca Terrin, Caterina Pacenza, Fabiola Fornaroli, Donatella Comito, Stefano D’Arrigo, Pasquale Striano, Federico Raviglione, Marco Carotenuto, Alessandro Orsini, Vincenzo Belcastro, Giovanna Di Corcia, Vincenzo Raieli, Michela Ada Noris Ferilli, Claudia Ruscitto, Elisabetta Spadoni, Salvatore Grosso, Renato D’Alonzo, Amanda Papa, Piero Pavone, Mariaclaudia Meli, Mario Velardita, Martina Mainetti, Nicola Vanacore, and Osvaldo Borrelli
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Cyclic vomiting ,Management ,Outcomes ,Pediatric ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment. Methods Cross-sectional multicenter web-based survey involving members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP). Results A total of 67 responses were received and analyzed. Most of the respondent units cared for less than 20 patients. More than half of the patients were referred after 3 to 5 episodes, and a quarter after 5 attacks. We report different diagnostic approaches among Italian clinicians, which was particularly evident when comparing gastroenterologists and neurologists. Moreover, our survey demonstrated a predilection of certain drugs during emetic phase according to specific clinic, which reflects the cultural background of physicians. Conclusion In conclusion, our survey highlights poor consensus amongst clinicians in our country in the diagnosis and the management of children with CVS, raising the need for a national consensus guideline in order to standardize the practice.
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- 2022
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27. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls
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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
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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.
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- 2023
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28. Antibiotic Resistance in Paediatric Febrile Urinary Tract Infections
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Esposito, Susanna, Biasucci, Giacomo, Pasini, Andrea, Predieri, Barbara, Vergine, Gianluca, Crisafi, Antonella, Malaventura, Cristina, Casadio, Luca, Sella, Marcello, Pierantoni, Luca, Gatti, Claudia, Paglialonga, Letizia, Sodini, Chiara, La Scola, Claudio, Bernardi, Luca, Autore, Giovanni, Canto, Giulia Dal, Argentiero, Alberto, Cantatore, Sante, Ceccoli, Martina, De Fanti, Alessandro, Suppiej, Agnese, Lanari, Marcello, Principi, Nicola, Pession, Andrea, and Iughetti, Lorenzo
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- 2022
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29. Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)
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Isoldi, Sara, Di Nardo, Giovanni, Mallardo, Saverio, Parisi, Pasquale, Raucci, Umberto, Tambucci, Renato, Quitadamo, Paolo, Salvatore, Silvia, Felici, Enrico, Cisarò, Fabio, Pensabene, Licia, Banzato, Claudia, Strisciuglio, Caterina, Romano, Claudio, Fusco, Patrizia, Rigotti, Francesca, Sansotta, Naire, Caimmi, Silvia, Savasta, Salvatore, Zuin, Giovanna, Di Stefano, Marina, Provera, Silvia, Campanozzi, Angelo, Rossi, Paolo, Gatti, Simona, Corpino, Mara, Alvisi, Patrizia, Martelossi, Stefano, Suppiej, Agnese, Gandullia, Paolo, Verrotti, Alberto, Terrin, Gianluca, Pacenza, Caterina, Fornaroli, Fabiola, Comito, Donatella, D’Arrigo, Stefano, Striano, Pasquale, Raviglione, Federico, Carotenuto, Marco, Orsini, Alessandro, Belcastro, Vincenzo, Di Corcia, Giovanna, Raieli, Vincenzo, Ferilli, Michela Ada Noris, Ruscitto, Claudia, Spadoni, Elisabetta, Grosso, Salvatore, D’Alonzo, Renato, Papa, Amanda, Pavone, Piero, Meli, Mariaclaudia, Velardita, Mario, Mainetti, Martina, Vanacore, Nicola, and Borrelli, Osvaldo
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- 2022
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30. Operational diagnosis of epilepsy in children at undetermined risk: A meta-analysis of prognostic factors for seizure recurrence
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Pellino, Giuditta, Faggioli, Raffaella, Madrassi, Laura, Falsaperla, Raffaele, and Suppiej, Agnese
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- 2022
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31. Social skills and psychopathology are associated with autonomic function in children: a cross-sectional observational study
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Elisa Cainelli, Luca Vedovelli, Daniele Bottigliengo, Dario Boschiero, and Agnese Suppiej
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affect recognition ,autonomic nervous system ,children ,hypoxic-ischemic encephalopathy ,impairment ,neonatal ,prematurity ,psychopathology ,recovery ,theory of mind ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
In recent years, the increase of psychopathological disorders in the population has become a health emergency, leading to a great effort to understand psychological vulnerability mechanisms. In this scenario, the role of the autonomic nervous system (ANS) has become increasingly important. This study investigated the association between ANS, social skills, and psychopathological functioning in children. As an ANS status proxy, we measured heart rate variability (HRV). Infants admitted to the neonatal intensive care unit of the University Hospital of Padova because of preterm birth or neonatal hypoxic-ischemic encephalopathy were sequentially recruited from January 2011 to June 2013 and followed long-term up to school age in this cross-sectional observational study. We recorded 5 minutes of HRV immediately before measuring performance in social abilities tasks (affect recognition and theory of mind, NEPSY-II) in 50 children (mean age 7.4 ± 1.4 years) with and without risk factors for developing neuropsychiatric disorders due to pre-/perinatal insults without major sequelae. Children also completed extensive cognitive, neuropsychological, and psychosocial assessment. Parents were assessed with psychopathological interviews and a questionnaire (CBCL 6-18). Analysis in a robust Bayesian framework was used to unearth dependencies between HRV, social skills, and psychopathological functioning. Social task scores were associated with HRV components, with high frequency the most consistent. HRV bands were also associated with the psychopathological questionnaire. Only normalized HRV high frequency was able to distinguish impaired children in the affect recognition task. Our data suggest that ANS may be implicated in social cognition both in typical and atypical developmental conditions and that HRV has cross-disease sensitivity. We suggest that HRV parameters may reflect a neurobiological vulnerability to psychopathology. The study was approved by the Ethics Committee of the University Hospital of Padova (Comitato Etico per la Sperimentazione, Azienda Opedaliera di Padova, approval No. 1693P).
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- 2022
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32. ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature
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Russo, Angelo, Forest, Cristina, Leone, Giulia Joy, Iascone, Maria, Tenconi, Romano, Maffei, Monica, Cersosimo, Antonella, Cordelli, Duccio Maria, and Suppiej, Agnese
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- 2021
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33. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
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Fetta, Anna, primary, Toni, Francesco, additional, Pettenuzzo, Ilaria, additional, Ricci, Emilia, additional, Rocca, Alessandro, additional, Gambi, Caterina, additional, Soliani, Luca, additional, Di Pisa, Veronica, additional, Martini, Silvia, additional, Sperti, Giacomo, additional, Cagnazzo, Valeria, additional, Accorsi, Patrizia, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Bernardo, Pia, additional, Canevini, Maria Paola, additional, Ferrari, Anna Rita, additional, Giordano, Lucio, additional, Locatelli, Chiara, additional, Mancardi, Margherita, additional, Orsini, Alessandro, additional, Pippucci, Tommaso, additional, Pruna, Dario, additional, Rosati, Anna, additional, Suppiej, Agnese, additional, Tagliani, Sara, additional, Vaisfeld, Alessandro, additional, Vignoli, Aglaia, additional, Izumi, Kosuke, additional, Krantz, Ian, additional, and Cordelli, Duccio Maria, additional
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- 2024
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34. Maturational aspects of visual P300 in children: a research window for pediatric Brain Computer Interface (BCI).
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Cristina Forest, Gloria Beraldo, Roberto Mancin, Emanuele Menegatti, and Agnese Suppiej
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- 2020
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35. Brain-Computer Interface for children: state-of-the-art and challenges*.
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Gloria Beraldo, Agnese Suppiej, Cristina Forest, Luca Tonin, and Emanuele Menegatti
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- 2020
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36. Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis
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Gefferie, Silvano R., Maric, Angelina, Critelli, Hanne, Gueden, Sophie, Kurlemann, Gerhard, Kurth, Salome, Nosadini, Margherita, Plecko, Barbara, Ringli, Maya, Rostásy, Kevin, Sartori, Stefano, Schmitt, Bernhard, Suppiej, Agnese, Van Bogaert, Patrick, Wehrle, Flavia M., Huber, Reto, and Bölsterli, Bigna K.
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- 2021
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37. Antibiotic Prophylaxis for the Prevention of Urinary Tract Infections in Children: Guideline and Recommendations from the Emilia-Romagna Pediatric Urinary Tract Infections (UTI-Ped-ER) Study Group
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Giovanni Autore, Luca Bernardi, Filippo Ghidini, Claudio La Scola, Alberto Berardi, Giacomo Biasucci, Federico Marchetti, Andrea Pasini, Maria Elena Capra, Claudia Castellini, Vera Cioni, Sante Cantatore, Andrea Cella, Francesca Cusenza, Alessandro De Fanti, Elisa Della Casa Muttini, Margherita Di Costanzo, Alessandra Dozza, Claudia Gatti, Cristina Malaventura, Luca Pierantoni, Giovanni Parente, Gabriella Pelusi, Serafina Perrone, Laura Serra, Francesco Torcetta, Enrico Valletta, Gianluca Vergine, Francesco Antodaro, Andrea Bergomi, Jennifer Chiarlolanza, Laura Leoni, Franco Mazzini, Roberto Sacchetti, Agnese Suppiej, Lorenzo Iughetti, Andrea Pession, Mario Lima, Susanna Esposito, and The UTI-Ped-ER Study Group
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antibiotic prophylaxis ,antibiotic resistance ,obstructive uropathies ,pediatrics ,urinary tract infection ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Background: Urinary tract infection (UTI) represents one of the most common infectious diseases and a major cause of antibiotic prescription in children. To prevent recurrent infections and long-term complications, low-dose continuous antibiotic prophylaxis (CAP) has been used. However, the efficacy of CAP is controversial. The aim of this document was to develop updated guidelines on the efficacy and safety of CAP to prevent pediatric UTIs. Methods: A panel of experts on pediatric infectious diseases, pediatric nephrology, pediatric urology, and primary care was asked clinical questions concerning the role of CAP in preventing UTIs in children. Overall, 15 clinical questions were addressed, and the search strategy included accessing electronic databases and a manual search of gray literature published in the last 25 years. After data extraction and narrative synthesis of results, recommendations were developed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) methodology. Results: The use of CAP is not recommended in children with a previous UTI, with recurrent UTIs, with vesicoureteral reflux (VUR) of any grade, with isolated hydronephrosis, and with neurogenic bladder. CAP is suggested in children with significant obstructive uropathies until surgical correction. Close surveillance based on early diagnosis of UTI episodes and prompt antibiotic therapy is proposed for conditions in which CAP is not recommended. Conclusions: Our systematic review shows that CAP plays a limited role in preventing recurrences of UTI in children and has no effect on its complications. On the other hand, the emergence of new antimicrobial resistances is a proven risk.
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- 2023
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38. Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates
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Dilena, Robertino, Raviglione, Federico, Cantalupo, Gaetano, Cordelli, Duccio M., De Liso, Paola, Di Capua, Matteo, Falsaperla, Raffaele, Ferrari, Fabrizio, Fumagalli, Monica, Lori, Silvia, Suppiej, Agnese, Tadini, Laura, Dalla Bernardina, Bernardo, Mastrangelo, Massimo, and Pisani, Francesco
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- 2021
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39. Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study
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Suppiej, A., Ceccato, C., Maritan, V., Cermakova, I., Colavito, D., and Leon, A.
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- 2021
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40. Neonatal spectral EEG is prognostic of cognitive abilities at school age in premature infants without overt brain damage
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Cainelli, Elisa, Vedovelli, Luca, Wigley, Isabella Lucia Chiara Mariani, Bisiacchi, Patrizia Silvia, and Suppiej, Agnese
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- 2021
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41. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022.
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Puntoni, Matteo, Maglietta, Giuseppe, Caminiti, Caterina, Miniaci, Angela, Lanari, Marcello, Caramelli, Fabio, Marchetti, Federico, De Fanti, Alessandro, Iughetti, Lorenzo, Biasucci, Giacomo, Suppiej, Agnese, Miceli, Andrea, Ghizzi, Chiara, Vergine, Gianluca, Aricò, Melodie, Stella, Marcello, and Esposito, Susanna
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- 2024
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42. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric hospital admissions in North Italian hospitals, 2017 to 2022: a quasi-experimental study interrupted time-series analysis.
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Maglietta, Giuseppe, Puntoni, Matteo, Caminiti, Caterina, Pession, Andrea, Lanari, Marcello, Caramelli, Fabio, Marchetti, Federico, De Fanti, Alessandro, Iughetti, Lorenzo, Biasucci, Giacomo, Suppiej, Agnese, Miceli, Andrea, Ghizzi, Chiara, Vergine, Gianluca, Aricò, Melodie, Stella, Marcello, and Esposito, Susanna
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- 2024
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43. Acute Respiratory Tract Infections (ARTIs) in Children after COVID-19-Related Social Distancing: An Epidemiological Study in a Single Center of Southern Italy.
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Falsaperla, Raffaele, Sortino, Vincenzo, La Cognata, Daria, Barberi, Chiara, Corsello, Giovanni, Malaventura, Cristina, Suppiej, Agnese, Collotta, Ausilia Desiree, Polizzi, Agata, Grassi, Patrizia, and Ruggieri, Martino
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RESPIRATORY infections in children ,RESPIRATORY syncytial virus ,RESPIRATORY infections ,VIRAL transmission ,PARAINFLUENZA viruses ,CORONAVIRUS diseases - Abstract
In Sicily (Italy), respiratory syncytial virus (RSV), rhinovirus (HRV), and influenza virus triggered epidemics among children, resulting in an increase in acute respiratory tract infections (ARTIs). Our objective was to capture the epidemiology of respiratory infections in children, determining which pathogens were associated with respiratory infections following the lockdown and whether there were changes in the epidemiological landscape during the post-SARS-CoV-2 pandemic era. Materials and Methods: We analyzed multiplex respiratory viral PCR data (BioFire
® FilmArray® Respiratory Panel 2.1 Plus) from 204 children presenting with respiratory symptoms and/or fever to our Unit of Pediatrics and Pediatric Emergency. Results: Viruses were predominantly responsible for ARTIs (99%), with RSV emerging as the most common agent involved in respiratory infections, followed by human rhinovirus/enterovirus and influenza A. RSV and rhinovirus were also the primary agents in coinfections. RSV predominated during winter months, while HRV/EV exhibited greater prevalence than RSV during the fall. Some viruses spread exclusively in coinfections (human coronavirus NL63, adenovirus, metapneumovirus, and parainfluenza viruses 1–3), while others primarily caused mono-infections (influenza A and B). SARS-CoV-2 was detected equally in both mono-infections (41%) and coinfections (59%). Conclusions: Our analysis underlines the predominance of RSV and the importance of implementing preventive strategies for RSV. [ABSTRACT FROM AUTHOR]- Published
- 2024
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44. Abnormal heart rate variability at school age in survivors of neonatal hypoxic-ischemic encephalopathy managed with therapeutic hypothermia
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Suppiej, A., Vedovelli, L., Boschiero, D., Bolzon, M., and Cainelli, E.
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- 2020
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45. Delayed neonatal visual evoked potentials are associated to asymmetric growth pattern in twins
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Piro, Ettore, Suppiej, Agnese, Puccio, Giuseppe, Falsaperla, Raffaele, and Corsello, Giovanni
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- 2020
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46. Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
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Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, and Raffaele Falsaperla
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Blindness ,Child ,Low vision ,Electroretinography ,Nystagmus ,Pediatrics ,RJ1-570 - Abstract
Abstract Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as for genetic diagnosis and possible gene therapy. The aim of this study is to characterize a pattern of the initial visual symptoms, which could help the pediatricians and the primary care providers to suspect an inherited retinal disorder in its early stage. Methods We analyzed the initial clinical symptoms, based on parental report during the first visit to specialist, in 50 children diagnosed with retinal dystrophy confirmed by full-field electroretinography. The analysis included the age of symptoms onset and the type of visual symptoms, both in the total population and in the following diagnostic subgroups: rod-cone dystrophy (n.17), cone-rod dystrophy (n.12), achromatopsia (n.13), congenital stationary night blindness (n.6) and Leber’s congenital amaurosis (n.2). Results The majority of children (80%) had the onset of clinical symptoms before one year of age. The most frequent visual complaints reported by parents were nystagmus (76%), visual loss (28%) and photophobia (8%). Nystagmus was the first symptom reported by parents if the disease onset was before the age of six months, while the onset after the six months of age was more likely associated with the complain of vision loss. Conclusions Low vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.
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- 2019
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47. Prognostic role of acute kidney injury on long-term outcome in infants with hypoxic-ischemic encephalopathy
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Cavallin, Francesco, Rubin, Giulia, Vidal, Enrico, Cainelli, Elisa, Bonadies, Luca, Suppiej, Agnese, and Trevisanuto, Daniele
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Child development deviations -- Risk factors ,Encephalopathy -- Patient outcomes ,Acute renal failure -- Prognosis ,Pediatric research ,Developmental disabilities -- Risk factors ,Health - Abstract
Background The objective of this study was to evaluate the prognostic role of postnatal acute kidney injury (AKI) on neurodevelopmental outcome in infants with hypoxic-ischemic encephalopathy (HIE) receiving therapeutic hypothermia (TH). Methods This is a prospective observational study including all neonates with HIE receiving TH between 2009 and 2016 at a single center. AKI was classified according to the Kidney Disease: Improving Global Outcomes definition modified for neonatal age. Child development was assessed using the Griffiths Mental Development Scales (GMDS). Study outcome was defined as unfavorable outcome (including death or disability according to GMDS) or favorable otherwise, at 12 and 24 months. Results One-hundred and one neonates (median gestational age 39 weeks) were included. AKI was diagnosed in 10 neonates (10%). Seven patients died within the first year, 35 patients had disability at 12 months, and 45 patients at 24 months. AKI was associated with increased likelihood of unfavorable outcome at 24 months (100% vs. 59% in neonates without AKI; p = 0.01). AKI showed good positive predictive value (1.00, 95% CI 0.71-1.00) and specificity (1.00, 95% CI 0.88-1.00), but poor negative predictive value (0.41, 95% CI 0.30-0.52) and sensitivity (0.19, 95% CI 0.11-0.32) at 24 months. Conclusions AKI might be a reliable indicator of death or long-term disability in infants with HIE receiving TH, but the absence of AKI does not guarantee a favorable long-term outcome., Author(s): Francesco Cavallin [sup.1] , Giulia Rubin [sup.2] , Enrico Vidal [sup.3] , Elisa Cainelli [sup.4] , Luca Bonadies [sup.2] , Agnese Suppiej [sup.2] [sup.5] , Daniele Trevisanuto [sup.2] Author [...]
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- 2020
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48. Electroencephalographic functional connectivity in extreme prematurity: a pilot study based on graph theory
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Cainelli, Elisa, Di Bono, Maria Grazia, Bisiacchi, Patrizia S., and Suppiej, Agnese
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- 2020
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49. Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis
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Silvano R. Gefferie, Angelina Maric, Hanne Critelli, Sophie Gueden, Gerhard Kurlemann, Salome Kurth, Margherita Nosadini, Barbara Plecko, Maya Ringli, Kevin Rostásy, Stefano Sartori, Bernhard Schmitt, Agnese Suppiej, Patrick Van Bogaert, Flavia M. Wehrle, Reto Huber, and Bigna K. Bölsterli
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NMDA receptor ,Encephalitis ,Synaptic plasticity ,Slow waves ,Sleep homeostasis ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Plasticity of synaptic strength and density is a vital mechanism enabling memory consolidation, learning, and neurodevelopment. It is strongly dependent on the intact function of N-Methyl-d-Aspartate Receptors (NMDAR). The importance of NMDAR is further evident as their dysfunction is involved in many diseases such as schizophrenia, Alzheimer's disease, neurodevelopmental disorders, and epilepsies. Synaptic plasticity is thought to be reflected by changes of sleep slow wave slopes across the night, namely higher slopes after wakefulness at the beginning of sleep than after a night of sleep. Hence, a functional NMDAR deficiency should theoretically lead to altered overnight changes of slow wave slopes. Here we investigated whether pediatric patients with anti-NMDAR encephalitis, being a very rare but unique human model of NMDAR deficiency due to autoantibodies against receptor subunits, indeed show alterations in this sleep EEG marker for synaptic plasticity.We retrospectively analyzed 12 whole-night EEGs of 9 patients (age 4.3–20.8 years, 7 females) and compared them to a control group of 45 healthy individuals with the same age distribution. Slow wave slopes were calculated for the first and last hour of Non-Rapid Eye Movement (NREM) sleep (factor ‘hour’) for patients and controls (factor ‘group’). There was a significant interaction between ‘hour’ and ‘group’ (p = 0.013), with patients showing a smaller overnight decrease of slow wave slopes than controls. Moreover, we found smaller slopes during the first hour in patients (p = 0.022), whereas there was no group difference during the last hour of NREM sleep (p = 0.980). Importantly, the distribution of sleep stages was not different between the groups, and in our main analyses of patients without severe disturbance of sleep architecture, neither was the incidence of slow waves. These possible confounders could therefore not account for the differences in the slow wave slope values, which we also saw in the analysis of the whole sample of EEGs. These results suggest that quantitative EEG analysis of slow wave characteristics may reveal impaired synaptic plasticity in patients with anti-NMDAR encephalitis, a human model of functional NMDAR deficiency. Thus, in the future, the changes of sleep slow wave slopes may contribute to the development of electrophysiological biomarkers of functional NMDAR deficiency and synaptic plasticity in general.
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- 2021
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50. Pre-surgery urine metabolomics may predict late neurodevelopmental outcome in children with congenital heart disease
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Vedovelli, Luca, Cogo, Paola, Cainelli, Elisa, Suppiej, Agnese, Padalino, Massimo, Tassini, Maria, Simonato, Manuela, Stellin, Giovanni, Carnielli, Virgilio P., Buonocore, Giuseppe, and Longini, Mariangela
- Published
- 2019
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