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3. 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

Author

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, and Wasniewska, Malgorzata

Published
2024
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6. Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience

Author

Orsini, Alessandro, Santangelo, Andrea, Costagliola, Giorgio, Scacciati, Massimo, Massart, Francesco, Operto, Francesca Felicia, D'Elios, Sofia, Consolini, Rita, De Benedetti, Fabrizio, Maggio, Maria Cristina, Miniaci, Angela, Ferretti, Alessandro, Cordelli, Duccio Maria, Battini, Roberta, Bonuccelli, Alice, Savasta, Salvatore, Parisi, Pasquale, Fazzi, Elisa, Ruggieri, Martino, Striano, Pasquale, Peroni, Diego Giampietro, and Foiadelli, Thomas

Published
2024
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9. UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants

Author

Manti, Sara, Staiano, Annamaria, Orfeo, Luigi, Midulla, Fabio, Marseglia, Gian Luigi, Ghizzi, Chiara, Zampogna, Stefania, Carnielli, Virgilio Paolo, Favilli, Silvia, Ruggieri, Martino, Perri, Domenico, Di Mauro, Giuseppe, Gattinara, Guido Castelli, D’Avino, Antonio, Becherucci, Paolo, Prete, Arcangelo, Zampino, Giuseppe, Lanari, Marcello, Biban, Paolo, Manzoni, Paolo, Esposito, Susanna, Corsello, Giovanni, and Baraldi, Eugenio

Published
2023
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12. Drug resistant epilepsies: A multicentre case series of steroid therapy

Author

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

Published
2024
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21. Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesis

Author

Greco, Giacomo, primary, Risi, Mario, additional, Masciocchi, Stefano, additional, Businaro, Pietro, additional, Rigoni, Eleonora, additional, Zardini, Elisabetta, additional, Scaranzin, Silvia, additional, Morandi, Chiara, additional, Diamanti, Luca, additional, Foiadelli, Thomas, additional, Giannoccaro, Maria Pia, additional, Morelli, Luana, additional, Liguori, Rocco, additional, Barone, Paolo, additional, Tozzo, Alessandra, additional, Passarini, Alice, additional, Gelibter, Stefano, additional, Patti, Francesco, additional, Banfi, Paola, additional, Simone, Anna Maria, additional, Bisecco, Alvino, additional, Ruggieri, Martino, additional, Maimone, Davide, additional, Bruno, Giorgia, additional, Siliquini, Sabrina, additional, Bova, Stefania, additional, Di Filippo, Massimiliano, additional, Lanzillo, Roberta, additional, Gallo, Antonio, additional, Colombo, Elena, additional, Franciotta, Diego, additional, and Gastaldi, Matteo, additional

Published
2024
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22. Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients

Author

Di Pietro, Stefano, primary, Reali, Linda, additional, Tona, Emanuela, additional, Belfiore, Giuseppe, additional, Praticò, Andrea Domenico, additional, Ruggieri, Martino, additional, David, Emanuele, additional, Foti, Pietro Valerio, additional, Santonocito, Orazio Giuseppe, additional, Basile, Antonio, additional, and Palmucci, Stefano, additional

Published
2024
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29. Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.

Author

Falsaperla, Raffaele, Sortino, Vincenzo, Giacchi, Valentina, Saporito, Marco Andrea Nicola, Marino, Silvia, Tardino, Lucia Giovanna, Marino, Lidia, Gennaro, Alessia, Ruggieri, Martino, Barberi, Chiara, and Polizzi, Agata

Subjects
SUDDEN infant death syndrome, STARTLE reaction, SYMPTOMS, GENETIC mutation, BRAIN injuries
Abstract

Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome. Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were GLRA1 in 9 of 14 (64.28%), SLC6A5 in 2 of 14 (14.28%), GPHN in 1 of 14 (7.14%), and GLRB in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable. Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Advancing Pediatric Epilepsy Care: Efficacy and Mechanisms of Melatonin Intervention.

Author

Carnazzo, Salvatore Michele, Balconara, Desirèe, Comisi, Francesco Fabrizio, and Ruggieri, Martino

Subjects
TREATMENT of epilepsy, ANTICONVULSANTS, MELATONIN, CIRCADIAN rhythms, SLEEP disorders
Abstract

Seizures and epilepsies pose significant challenges in pediatric populations, necessitating precise classification and effective management. The International League Against Epilepsy updated its classification system in 2017 to standardize epilepsy care. This study investigated melatonin, a neurohormone known for its role in circadian rhythm regulation, and its potential to enhance the diagnosis, management, and quality of life of pediatric epilepsy patients. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic review was conducted to explore the relationship between melatonin and pediatric epilepsies. PubMed searches were performed using specific search terms, with eligibility criteria including studies on melatonin's pathophysiological, biochemical, and therapeutic effects in pediatric epilepsy. Studies involving patients aged 0-18 years were published between 2003 and 2023. Four-teen studies with 898 pediatric patients were included. Melatonin was administered as an adjunct to antiepileptic therapy with the aim of alleviating disorders associated with epileptic encephalopathies or assisting electroencephalogram procedures. Findings were varied: Some studies indicated a reduction in seizure frequency with melatonin, while others provided inconclusive results. Improvements in sleep disorders related to epilepsy were noted with melatonin supplementation, which indirectly enhanced the overall quality of life. Melatonin has potential as an adjunctive therapy for pediatric epilepsy, with positive effects on seizure frequency and sleep quality. However, methodological limitations in some studies and inconclusive data underscore the need for further research to determine the efficacy of melatonin in pediatric epilepsy management. The diverse potential of melatonin in treating neurological disorders highlights the importance of continued, comprehensive research into its therapeutic application. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia

Author

Gulino, Alessandro, additional, Dierna, Federica, additional, Zanghì, Antonio, additional, Vecchio, Michele, additional, Salafia, Stefania, additional, Marino, Francesco, additional, Foti, Pietro, additional, Belfiore, Giuseppe, additional, Basile, Antonio, additional, Ruggieri, Martino, additional, and Polizzi, Agata, additional

Published
2024
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41. Neurocutaneous Disorders

Author

Ruggieri, Martino, Praticò, Andrea D., Polizzi, Agata, Di Rocco, Concezio, Section editor, Tamburrini, Gianpiero, Section editor, Di Rocco, Concezio, editor, Pang, Dachling, editor, and Rutka, James T., editor

Published
2020
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42. A Phenylalanine Sensor Exploiting a Capacitive Readout Strategy Embedding a Selective Enzymatic Mechanism

Author

Petralia, Salvatore, Castorina, Salvatore, Maugeri, Ludovica, Messina, Maria Anna, Ruggieri, Martino, Neri, Giovanni, Ferlazzo, Angelo, Sardini, Emilio, Serpelloni, Mauro, Bellitti, Paolo, and Ando, Bruno

Abstract

This article introduces a cost-effective and fast-response capacitive sensor designed for quantifying phenylalanine (Phe) levels in PKU patients. The sensor comprises planar interdigitated electrodes (IDEs) on a substrate, with NH3-sensitive dielectric material, and exploits an enzymatic reaction to indirectly assess Phe levels. IDEs are created using aerosol jet printing (AJP), with two variants differing in the type of ink used. Experimental results achieved by exposing sensors to standard NH3 and Phe solutions have been reported. The proposed approach provides a capacitive readout strategy for low analyte concentrations, high specificity to NH3 using yttria-stabilized zirconia (YSZ), easy miniaturization, faster response times, and cost-effectiveness through rapid-prototyping technologies. A sensor limit of detection of $0.52~\mu $ M has been estimated for Phe detection, along with an accuracy of $6.27~\mu $ M.

Published
2024
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43. 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

Author

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.

Published
2024

45. PURA -Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.

Author

Falsaperla, Raffaele, Sortino, Vincenzo, Schinocca, Marina Antonietta, Fusto, Gaia, Rizzo, Roberta, Barberi, Chiara, Ruggieri, Martino, and Pappalardo, Xena Giada

Subjects
FRAMESHIFT mutation, KETOGENIC diet, LITERATURE reviews, DROOLING, CONGENITAL disorders
Abstract

PURA syndrome is a congenital developmental disorder caused by de novo mutations in the PURA gene, which encodes a DNA/RNA-binding protein essential for transcriptional and translational regulation. We present the case of an 11-year-old patient with a de novo frameshift variant in the PURA gene, identified through whole exome sequencing (WES). In addition to the classical PURA deficiency phenotype, our patient exhibited pronounced sialorrhea and seizures, which were effectively treated with the ketogenic diet (KD). Our integrative approach, combining a literature review and bioinformatics data, has led to the first documented clinical case showing improvement in both sialorrhea and seizures with KD treatment, a phenomenon not previously reported. Although a direct relationship between the de novo PURA mutation and the KD was not established, we identified a novel frameshift deletion associated with a new clinical phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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46. Acute Respiratory Tract Infections (ARTIs) in Children after COVID-19-Related Social Distancing: An Epidemiological Study in a Single Center of Southern Italy.

Author

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

Subjects
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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