167 results on '"Mastrangelo A"'
Search Results
2. Harnessing the Power of Play: Opportunities for Children with Autism Spectrum Disorders
- Author
-
Mastrangelo, Sonia
- Abstract
Play is a complex phenomenon that occurs naturally for most children; they move through the various stages of play development and are able to add complexity, imagination, and creativity to their thought processes and actions. However, for many children with autism spectrum disorders (ASD), the various stages of play never truly develop, or occur in a fragmented fashion. Difficulties in motor planning, expressive and receptive communication, imitation, and fine and gross motor movements are just some of the many obstacles they encounter during play. ASD is a severe, lifelong, neurologically based condition, identifiable by deficits in imitation, gesturing, observational learning, joint attention, symbolic play, and understanding the expression of emotion. Students may also exhibit variability of intellectual functioning; uneven developmental profile; unusual perceptual responses; aggressive or self-injurious behavior; restricted, repetitive, and stereotyped patterns of behavior; preoccupations with a restricted range of interests; obsessive routines and rituals; repetitive motor mannerisms; distress over changes in the environment and odd responses to sensory stimuli; and difficulties in sleeping, toileting, and eating. Because children with ASD generally experience difficulties in the social, emotional, behavioral, and cognitive domains (all of which are essential to success in the home, school, and community) it is expected that their play experiences would also be compromised. Children with ASD have trouble initiating and sustaining their play, and typically display delayed patterns of social interaction. Extensive opportunities for play may enhance a child's awareness of other people's mental states and intentions. In this article, the author discusses the cognitive (rather than social) stages of play development because the majority of research studies on play and ASD come from the field of psychology, where such cognitive terminology is used. Further, this discussion includes peer play as a separate category because it is an important dimension of symbolic play that requires unique consideration--it is a common goal in play therapy for children with ASD. (Contains 3 tables.)
- Published
- 2009
3. Cardiovascular Fitness in Obese versus Nonobese 8-11-Year-Old Boys and Girls
- Author
-
Mastrangelo, M. Alysia, Chaloupka, Edward C., and Rattigan, Peter
- Abstract
The purpose of this study was to compare cardiovascular fitness between obese and nonobese children. Based on body mass index, 118 were classified as obese (boys [OB] = 62, girls [OG] = 56), while 421 were nonobese (boys [NOB] = 196, girls [NOG] = 225). Cardiovascular fitness was determined by a 1-mile [1.6 km] run/walk (MRW) and estimated peak oxygen uptake (VO[subscript 2]peak) and analyzed using two-way analyses of variance (Gender x Obese/Nonobese). MRW times were significantly faster (p less than 0.05) for the NOB (10 min 34 s) compared to the OB (13 min 8 s) and the NOG (13 min 15 s.) compared to the OG (14 min 44 s.). Predicted VO[subscript 2]peak values (mL multiplied by kg[superscript -1] multiplied by min[superscript -1]) were significantly higher (p less than 0.05) for the NOB (48.29) compared to the OB (41.56) and the NOG (45.99) compared to the OG (42.13). MRW was compared between obese and nonobese participants on the President's Challenge (2005), the National Children and Youth Fitness Study, and FITNESSGRAM[R] HFZ standards. The nonobese boys and girls scored higher on all three, exhibiting better cardiovascular fitness as compared to obese counterparts. (Contains 3 tables.)
- Published
- 2008
4. The Role of the Cerebellum in Advanced Cognitive Processes in Children
- Author
-
Stefano Mastrangelo, Laura Peruzzi, Antonella Guido, Laura Iuvone, Giorgio Attinà, Alberto Romano, Palma Maurizi, Daniela Pia Rosaria Chieffo, and Antonio Ruggiero
- Subjects
cerebellar lesions ,higher order functions ,cognitive disorders ,development ,procedural learning ,children ,Biology (General) ,QH301-705.5 - Abstract
Over the last several years, a growing body of evidence from anatomical, physiological, and functional neuroimaging studies has increasingly indicated that the cerebellum is actively involved in managing higher order cognitive functions and regulating emotional responses. It has become clear that when children experience congenital or acquired cerebellar lesions, these injuries can lead to a variety of cognitive and emotional disorders, manifesting in different combinations. This underscores the cerebellum’s essential role not only throughout developmental stages but particularly in facilitating learning processes, highlighting its critical importance beyond its traditional association with motor control. Furthermore, the intricate neural circuits within the cerebellum are believed to contribute to the fine-tuning of motor actions and coordination but are also increasingly recognized for their involvement in cognitive processes such as attention, language, and problem solving. Recent research has highlighted the importance of cerebellar health and integrity for optimal functioning across various domains of the human experience.
- Published
- 2024
- Full Text
- View/download PDF
5. International cohort of 382 children with lupus nephritis – presentation, treatment and outcome at 24 months
- Author
-
De Mutiis, Chiara, Wenderfer, Scott E., Basu, Biswanath, Bagga, Arvind, Orjuela, Alvaro, Sar, Tanmoy, Aggarwal, Amita, Jain, Avinash, Yap, Hui-Kim, Teo, Sharon, Ito, Shuichi, Ohnishi, Ai, Iwata, Naomi, Kasapcopur, Ozgur, Yildiz, Mehmet, Laurent, Audrey, Mastrangelo, Antonio, Ogura, Masao, Shima, Yuko, Rianthavorn, Pornpimol, Silva, Clovis A., Trindade, Vitor, Gianviti, Alessandra, Akinori, Miyazono, Hamada, Riku, Fujimura, Junya, Minamikawa, Shogo, Kamiyoshi, Naohiro, Kaito, Hiroshi, Ishimori, Shingo, Iannuzzella, Francesco, and Tullus, Kjell
- Published
- 2023
- Full Text
- View/download PDF
6. Psychological Experiences of Parents of Pediatric Cancer Patients during and after COVID-19 Pandemic
- Author
-
Antonella Guido, Elisa Marconi, Laura Peruzzi, Nicola Dinapoli, Gianpiero Tamburrini, Giorgio Attinà, Alberto Romano, Palma Maurizi, Stefano Mastrangelo, Silvia Chiesa, Maria Antonietta Gambacorta, Antonio Ruggiero, and Daniela Pia Rosaria Chieffo
- Subjects
stress ,quality of life ,parent perception ,COVID-19 ,cancer ,children ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: Family members dealing with the devastating impact of a cancer diagnosis are now facing even greater vulnerability due to the COVID-19 pandemic. Alongside the already overwhelming trauma, they must also bear the distressing burden of the infection risks. The purpose of this study was to examine and explore the effects in parents of pediatric cancer patients two years after the start of the COVID-19 pandemic to compare these data with the previous data. Methods: We conducted a single-center prospective observational study, enrolling 75 parents of 42 pediatric oncology patients. Four questionnaires (IES-R; PSS; STAI-Y and PedsQL) were given to the parents 2 years after the first evaluation. Results: The bivariate matrix of correlation found a strong significant positive correlation between IES-R and PSS scores (r = 0.526, p < 0.001) as in T1. Stress symptoms (t = 0.00, p < 0.001) and levels of anxiety (trait) (t = 0.32, p < 0.001) remained unchanged; anxiety state levels appeared to have increased (t = 0.425, p < 0.001); there was a significant decrease in the PedsQL tot (t = 5.25, p < 0.001). Conclusions: The COVID-19 pandemic has influenced the levels of stress and anxiety of parents and the quality of life of patients, also correlating with the traumatic impact of the diagnosis.
- Published
- 2024
- Full Text
- View/download PDF
7. Acute ischemic stroke in childhood: a comprehensive review
- Author
-
Mastrangelo, Mario, Giordo, Laura, Ricciardi, Giacomina, De Michele, Manuela, Toni, Danilo, and Leuzzi, Vincenzo
- Published
- 2022
- Full Text
- View/download PDF
8. The Role of the Cerebellum in Advanced Cognitive Processes in Children.
- Author
-
Mastrangelo, Stefano, Peruzzi, Laura, Guido, Antonella, Iuvone, Laura, Attinà, Giorgio, Romano, Alberto, Maurizi, Palma, Chieffo, Daniela Pia Rosaria, and Ruggiero, Antonio
- Subjects
NEURAL circuitry ,COGNITION disorders ,MOTOR ability ,COGNITIVE development ,LEARNING - Abstract
Over the last several years, a growing body of evidence from anatomical, physiological, and functional neuroimaging studies has increasingly indicated that the cerebellum is actively involved in managing higher order cognitive functions and regulating emotional responses. It has become clear that when children experience congenital or acquired cerebellar lesions, these injuries can lead to a variety of cognitive and emotional disorders, manifesting in different combinations. This underscores the cerebellum's essential role not only throughout developmental stages but particularly in facilitating learning processes, highlighting its critical importance beyond its traditional association with motor control. Furthermore, the intricate neural circuits within the cerebellum are believed to contribute to the fine-tuning of motor actions and coordination but are also increasingly recognized for their involvement in cognitive processes such as attention, language, and problem solving. Recent research has highlighted the importance of cerebellar health and integrity for optimal functioning across various domains of the human experience. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
9. Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.
- Author
-
Mastrangelo, Mario, Greco, Carlo, Tolve, Manuela, Bartolini, Emanuele, Russo, Angelo, Nicita, Francesco, Pruna, Dario, Galli, Jessica, Favaro, Jacopo, Terrone, Gaetano, De Felice, Claudio, and Pisani, Francesco
- Abstract
• Onset of epilepsy in IQSEC2- related encephalopathy, is mainly after the first year of age. • Predominance of focal seizures with impaired awareness and generalized motor seizures characterized the epilepsy phenotype. • No remarkable differences in the clinical severity was observed between males and females. • Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most commonly used ASM. Epilepsy is a hallmark of IQSEC2- related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy. Data including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in patients with IQSEC2 -related epilepsy referring to 8 Italian tertiary centres. The reported cohort included 11 patients (8 males and 3 females). Mean age at the onset of epilepsy was 3.90±2.80 years. No cases were reported in the first year of life. No specific epileptic syndromes were recognized. Predominant seizure-types in the age range 12–36 months included focal onset tonic seizures with impaired awareness, myoclonic seizures, and late onset spasms. Generalized motor seizures were predominant in patients between 3 and 6 years and between 12 and 18 years while focal motor seizures with impaired awareness were the most represented types between 6 and 12 years. No patients experienced status epilepticus. EEG patterns included a delayed maturation of EEG organization, irregular focal or diffuse slow activity, multifocal or diffuse epileptiform abnormalities. No structural epileptogenic lesions were detected at MRI. Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most used antiseizure medication. Complete seizure freedom was achieved only in 2 patients. Onset of epilepsy after the first year of age, predominance of focal seizures with impaired awareness and generalized motor seizures, no pathognomonic underlying epileptic syndrome and infrequent occurrence of status epilepticus emerged as the main features of IQSEC2 -related epilepsy phenotype. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
10. Aminoglycosides-Related Ototoxicity: Mechanisms, Risk Factors, and Prevention in Pediatric Patients
- Author
-
Serena Rivetti, Alberto Romano, Stefano Mastrangelo, Giorgio Attinà, Palma Maurizi, and Antonio Ruggiero
- Subjects
aminoglycosides ,children ,ototoxicity ,antibiotics ,antibiotic side effects ,childhood ,Medicine ,Pharmacy and materia medica ,RS1-441 - Abstract
Aminoglycosides are broad-spectrum antibiotics largely used in children, but they have potential toxic side effects, including ototoxicity. Ototoxicity from aminoglycosides is permanent and is a consequence of its action on the inner ear cells via multiple mechanisms. Both uncontrollable risk factors and controllable risk factors are involved in the pathogenesis of aminoglycoside-related ototoxicity and, because of the irreversibility of ototoxicity, an important undertaking for preventing ototoxicity includes antibiotic stewardship to limit the use of aminoglycosides. Aminoglycosides are fundamental in the treatment of numerous infectious conditions at neonatal and pediatric age. In childhood, normal auditory function ensures adequate neurocognitive and social development. Hearing damage from aminoglycosides can therefore strongly affect the normal growth of the child. This review describes the molecular mechanisms of aminoglycoside-related ototoxicity and analyzes the risk factors and the potential otoprotective strategies in pediatric patients.
- Published
- 2023
- Full Text
- View/download PDF
11. Kidney involvement and histological findings in two pediatric COVID-19 patients
- Author
-
Serafinelli, Jessica, Mastrangelo, Antonio, Morello, William, Cerioni, Valeria Fanny, Salim, Adib, Nebuloni, Manuela, and Montini, Giovanni
- Published
- 2021
- Full Text
- View/download PDF
12. Early and Long-Term Ototoxicity Noted in Children Due to Platinum Compounds: Prevalence and Risk Factors
- Author
-
Alberto Romano, Serena Rivetti, Francesca Brigato, Stefano Mastrangelo, Giorgio Attinà, Palma Maurizi, Jacopo Galli, Anna Rita Fetoni, and Antonio Ruggiero
- Subjects
ototoxicity ,childhood cancer survivors ,cisplatin ,carboplatin ,cancer ,children ,Biology (General) ,QH301-705.5 - Abstract
Background: Platinum compounds are a group of fundamental chemotherapeutics used in the treatment of solid tumors, but they are burdened by side effects, such as ototoxicity. The objective of this study was to evaluate the incidence of ototoxicity caused by platinum compounds and the risk factors affecting its appearance/progression. Methods: Data from 53 patients who received platinum compounds and who had been off therapy for at least 5 years were analyzed. We collected data relating to audiometry conducted annually from the end of treatment and for at least 5 subsequent years, as well as information concerning the oncological history and comorbidities. Results: At the end of the treatment, 17 patients (32.08%) presented ototoxicity, according to the Boston SIOP Ototoxicity Scale; the risk factors included a higher serum creatinine value at diagnosis, having undergone cranial radiotherapy, and needing magnesium supplementation. After 5 years from the end of the treatment, the number of patients with exhibiting ototoxicity was 31 (58.5%); the factors that influenced the onset/progression of the damage were having undergone radiotherapy (HR 1.23; p < 0.01) and having received therapy with aminoglycosides (HR 1.27; p < 0.01). Conclusions: Ototoxicity caused by platinum compounds can occur even after the conclusion of the treatments, and the factors affecting its progression are radiotherapy and the aminoglycosides therapy.
- Published
- 2023
- Full Text
- View/download PDF
13. Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management
- Author
-
Mastrangelo, Mario
- Published
- 2021
- Full Text
- View/download PDF
14. Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
- Author
-
Irene Toldo, Francesco Brunello, Paola Cavasin, Margherita Nosadini, Stefano Sartori, Anna Chiara Frigo, Roberto Mai, Veronica Pelliccia, Maria Margherita Mancardi, Pasquale Striano, Marisavina Severino, Federico Zara, Romana Rizzi, Susanna Casellato, Gabriella Di Rosa, Mario Mastrangelo, Alberto Spalice, Mauro Budetta, Luca De Palma, Renzo Guerrini, Dario Pruna, Duccio Maria Cordelli, Vito Sofia, Amanda Papa, Valentina Chiesa, Francesca Ragona, Pasquale Parisi, Alfredo D'Aniello, Pierangelo Veggiotti, Filippo Dainese, Lucio Giordano, Laura Licchetta, Paolo Tinuper, Giuseppe D'Orsi, Matteo Cassina, and Renzo Manara
- Subjects
Adults ,Children ,EGOS-ped ,Functional disability ,Subcortical band heterotopia ,Developmental Neuroscience ,Neurology ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) - Published
- 2023
15. BRAF and MEK Targeted Therapies in Pediatric Central Nervous System Tumors
- Author
-
Dario Talloa, Silvia Triarico, Pierpaolo Agresti, Stefano Mastrangelo, Giorgio Attinà, Alberto Romano, Palma Maurizi, and Antonio Ruggiero
- Subjects
central nervous system (CNS) tumors ,BRAF ,MEK ,children ,NGS ,targeted therapies ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
BRAF is a component of the MAPK and PI3K/AKT/mTOR pathways that play a crucial role in cellular proliferation, differentiation, migration, and angiogenesis. Pediatric central nervous system tumors very often show mutations of the MAPK pathway, as demonstrated by next-generation sequencing (NGS), which now has an increasing role in cancer diagnostics. The MAPK mutated pathway in pediatric CNS tumors is the target of numerous drugs, approved or under investigation in ongoing clinical trials. In this review, we describe the main aspects of MAPK and PI3K/AKT/mTOR signaling pathways, with a focus on the alterations commonly involved in tumorigenesis. Furthermore, we reported the main available data about current BRAF and MEK targeted therapies used in pediatric low-grade gliomas (pLLGs), pediatric high-grade gliomas (pHGGs), and other CNS tumors that often present BRAF or MEK mutations. Further molecular stratification and clinical trial design are required for the treatment of pediatric CNS tumors with BRAF and MEK inhibitors.
- Published
- 2022
- Full Text
- View/download PDF
16. Psychological Experiences of Parents of Pediatric Cancer Patients during and after COVID-19 Pandemic.
- Author
-
Guido, Antonella, Marconi, Elisa, Peruzzi, Laura, Dinapoli, Nicola, Tamburrini, Gianpiero, Attinà, Giorgio, Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Chiesa, Silvia, Gambacorta, Maria Antonietta, Ruggiero, Antonio, and Chieffo, Daniela Pia Rosaria
- Subjects
TUMORS in children ,SCIENTIFIC observation ,QUESTIONNAIRES ,CANCER patients ,ANXIETY ,PARENT attitudes ,DESCRIPTIVE statistics ,EMOTIONAL trauma ,LONGITUDINAL method ,PSYCHOLOGICAL stress ,QUALITY of life ,STATISTICS ,PSYCHOLOGY of parents ,DATA analysis software ,COVID-19 pandemic ,WELL-being ,CHILDREN - Abstract
Simple Summary: This study aimed to evaluate how the COVID-19 pandemic affected the psychological well-being of parents of pediatric oncology patients two years after the pandemic started. The authors' objective was to make a detailed comparison between the data collected in the current study and the data gathered in the previous research with the aim of observing any changes, whether for better or worse, at the psychological level in the caregivers of the patients in question. This research could be of great use for monitoring the psychological health of the sample and for being able to intervene promptly in the event of the worsening of the reported symptoms. Background: Family members dealing with the devastating impact of a cancer diagnosis are now facing even greater vulnerability due to the COVID-19 pandemic. Alongside the already overwhelming trauma, they must also bear the distressing burden of the infection risks. The purpose of this study was to examine and explore the effects in parents of pediatric cancer patients two years after the start of the COVID-19 pandemic to compare these data with the previous data. Methods: We conducted a single-center prospective observational study, enrolling 75 parents of 42 pediatric oncology patients. Four questionnaires (IES-R; PSS; STAI-Y and PedsQL) were given to the parents 2 years after the first evaluation. Results: The bivariate matrix of correlation found a strong significant positive correlation between IES-R and PSS scores (r = 0.526, p < 0.001) as in T1. Stress symptoms (t = 0.00, p < 0.001) and levels of anxiety (trait) (t = 0.32, p < 0.001) remained unchanged; anxiety state levels appeared to have increased (t = 0.425, p < 0.001); there was a significant decrease in the PedsQL tot (t = 5.25, p < 0.001). Conclusions: The COVID-19 pandemic has influenced the levels of stress and anxiety of parents and the quality of life of patients, also correlating with the traumatic impact of the diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
17. Neonatal outcomes and follow-up of children born to women with pregnancy-associated cancer: a prospective observational study.
- Author
-
Capozza, Michele Antonio, Romano, Alberto, Mastrangelo, Stefano, Attinà, Giorgio, Maurizi, Palma, Costa, Simonetta, Vento, Giovanni, Scambia, Giovanni, and Ruggiero, Antonio
- Subjects
CHEMOTHERAPY complications ,PRENATAL exposure delayed effects ,NEWBORN infants ,CANCER patients ,PREMATURE labor - Abstract
Background: During the last decade, there has been a growing number of cases of children born from pregnancy-associated cancer (PAC), however there are currently insufficient data on the follow up to be observed in this category of newborns. Objective of the study was to evaluate the neonatal outcomes of infants born to mother with PAC, the potential adverse effect of chemotherapy during pregnancy and the risk of metastasis to the fetus. Methods: Maternal clinical data and neonatal outcomes of child born to mothers diagnosed with PAC were collected; infants were divided into those were and were not exposed to chemotherapy during fetal life and their outcomes were compered. Results: A total of 37 newborn infants from 36 women with PAC were analyzed. Preterm delivery occurred in 83.8% of the cases. No significant differences in neonatal outcomes were found between infants who were and were not exposed to chemotherapy during pregnancy. The median follow-up period was 12 months. Conclusions: PAC treatment during the second or third trimester does not seem to be dangerous for the fetus, however infants born from PAC must be carefully evaluated for to rule out the consequences of chemotherapy and exclude the presence of metastasis. Long-term follow-up, especially in children exposed to chemotherapy, should be encouraged to obtain relevant data on long-term toxicity. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
18. Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents
- Author
-
Serena Cesario, Consuelo Basile, Matteo Trevisan, Federica Gigliotti, Filippo Manti, Rita Maria Esposito, Giuseppe Abbracciavento, and Mario Mastrangelo
- Subjects
COVID-19 pandemic ,caregiver ,perceived stress ,children ,Pediatrics ,RJ1-570 - Abstract
Background. This study aimed to investigate the consequence of the COVID 19-related lockdown on the well-being of children with neurological and neurodevelopmental disorders and the repercussion on parental stress during the period 9 March 2020–3 May 2020. Methods. A web-based survey was shared via mail with the parents of children affected by chronic neurologic disorders and neurodevelopmental disorders in the continuity of care in two Italian tertiary centers, independently by the severity of the diseases and the required frequency of controls. For each patient, they were asked to identify a single main caregiver, among the two parents, to fill in the questionnaire. Parental stress was measured via the Perceived Stress Scale (PSS). Statistical analysis was performed with IBM SPSS Statistics version 25. The differences between the clinical groups were performed with one way ANOVA. The dimensional effect of the clinical variables on outcome was evaluated by multiple linear regression analysis. Results. The survey was completed by 250 parents (response rate = 48.9 %). Sars-Cov2 infection was reported in two patients only. A total of 44.2% of the patients had completely interrupted school activities while 70% of parents underwent changes in their job modalities. Health care services were disrupted in 77% of patients. Higher PSS scores were detected in the parents of children with neurodevelopmental disorders (p = 0.035). Conclusions. The loss of continuity of care during the lockdown must be considered as a risk factor for parents caring for children with chronic neurologic diseases and neurodevelopmental disorders in further phases of the current pandemic.
- Published
- 2022
- Full Text
- View/download PDF
19. Henoch-Schönlein Purpura in children: not only kidney but also lung
- Author
-
Di Pietro, Giada Maria, Castellazzi, Massimo Luca, Mastrangelo, Antonio, Montini, Giovanni, Marchisio, Paola, and Tagliabue, Claudia
- Published
- 2019
- Full Text
- View/download PDF
20. Aminoglycosides-Related Ototoxicity: Mechanisms, Risk Factors, and Prevention in Pediatric Patients.
- Author
-
Rivetti, Serena, Romano, Alberto, Mastrangelo, Stefano, Attinà, Giorgio, Maurizi, Palma, and Ruggiero, Antonio
- Subjects
CHILD patients ,OTOTOXICITY ,INNER ear ,GROWTH of children ,ANTIMICROBIAL stewardship - Abstract
Aminoglycosides are broad-spectrum antibiotics largely used in children, but they have potential toxic side effects, including ototoxicity. Ototoxicity from aminoglycosides is permanent and is a consequence of its action on the inner ear cells via multiple mechanisms. Both uncontrollable risk factors and controllable risk factors are involved in the pathogenesis of aminoglycoside-related ototoxicity and, because of the irreversibility of ototoxicity, an important undertaking for preventing ototoxicity includes antibiotic stewardship to limit the use of aminoglycosides. Aminoglycosides are fundamental in the treatment of numerous infectious conditions at neonatal and pediatric age. In childhood, normal auditory function ensures adequate neurocognitive and social development. Hearing damage from aminoglycosides can therefore strongly affect the normal growth of the child. This review describes the molecular mechanisms of aminoglycoside-related ototoxicity and analyzes the risk factors and the potential otoprotective strategies in pediatric patients. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
21. Pediatric low-grade glioma and neurofibromatosis type 1: A single-institution experience
- Author
-
Antonio Ruggiero, Giorgio Attinà, Anastasia Campanelli, Palma Maurizi, Silvia Triarico, Alberto Romano, Luca Massimi, Gianpiero Tamburrini, Tommaso Verdolotti, and Stefano Mastrangelo
- Subjects
Oncology ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Chemotherapy ,Radiology, Nuclear Medicine and imaging ,General Medicine ,Glioma ,Children ,Carboplatin ,Neurofibromatosis type 1 ,Outcome - Published
- 2023
22. KETASER01 protocol: What went right and what went wrong
- Author
-
Anna Rosati, Manuela L’Erario, Roberto Bianchi, Sara Olivotto, Domenica Immacolata Battaglia, Francesca Darra, Paolo Biban, Annibale Biggeri, Dolores Catelan, Giacomo Danieli, Maria Cristina Mondardini, Duccio Maria Cordelli, Angela Amigoni, Elisabetta Cesaroni, Alessandra Conio, Paola Costa, Martina Lombardini, Rosanna Meleleo, Alessandra Pugi, Elena Eve Tornaboni, Marta Elena Santarone, Roberta Vittorini, Stefano Sartori, Carla Marini, Federico Vigevano, Massimo Mastrangelo, Silvia Maria Pulitanò, Francesca Izzo, Lucia Fusco, Rosati, Anna, L'Erario, Manuela, Bianchi, Roberto, Olivotto, Sara, Battaglia, Domenica Immacolata, Darra, Francesca, Biban, Paolo, Biggeri, Annibale, Catelan, Dolore, Danieli, Giacomo, Mondardini, Maria Cristina, Cordelli, Duccio Maria, Amigoni, Angela, Cesaroni, Elisabetta, Conio, Alessandra, Costa, Paola, Lombardini, Martina, Meleleo, Rosanna, Pugi, Alessandra, Tornaboni, Elena Eve, Santarone, Marta Elena, Vittorini, Roberta, Sartori, Stefano, Marini, Carla, Vigevano, Federico, Mastrangelo, Massimo, Pulitanò, Silvia Maria, Izzo, Francesca, and Fusco, Lucia
- Subjects
Male ,Anesthetic ,Infant ,Children ,Non-profit study ,Refractory Status Epilepticus ,Treatment ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,Status Epilepticus ,Neurology ,Clinical Protocols ,refractory status epilepticu ,Child, Preschool ,Humans ,Multicenter Studies as Topic ,Female ,Ketamine ,Neurology (clinical) ,Thiopental ,Clinical Protocol ,Child ,Human ,Randomized Controlled Trials as Topic ,Anesthetics - Abstract
Objective To discuss the results of the KETASER01 trial and the reasons for its failure, particularly in view of future studies. Methods KETASER01 is a multicenter, randomized, controlled, open-label, sequentially designed, non-profit Italian study that aimed to assess the efficacy of ketamine compared with conventional anesthetics in the treatment of refractory convulsive status epilepticus (RCSE) in children. Results During the 5-year recruitment phase, a total of 76 RCSEs treated with third-line therapy were observed in five of the 10 participating Centers; only 10 individuals (five for each study arm; five females, mean age 6.5 +/- 6.3 years) were enrolled in the KETASER01 study. Two of the five patients (40%) in the experimental arm were successfully treated with ketamine and two of the five (40%) children in the control arm, where successfully treated with thiopental. In the remaining six (60%) enrolled patients, RCSE was not controlled by the randomized anesthetic(s). Significance The KETASER01 study was prematurely halted due to low eligibility of patients and no successful recruitment. No conclusions can be drawn regarding the objectives of the study. Here, we discuss the KETASER01 results and critically analyze the reasons for its failure in view of future trials.
- Published
- 2022
23. Transdermal buprenorphine for pain management in children
- Author
-
Antonio Ruggiero, Alberto Romano, Silvia Triarico, Palma Maurizi, Stefano Mastrangelo, and Giorgio Attinà
- Subjects
medicine.medical_specialty ,RM1-950 ,children ,medicine ,pain ,Intensive care medicine ,Transdermal ,Pharmacology ,business.industry ,Chronic pain ,opioids ,General Medicine ,Pain management ,medicine.disease ,buprenorphine ,Sick child ,Opioid ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,transdermal ,Molecular Medicine ,Transdermal Buprenorphine ,Therapeutics. Pharmacology ,business ,Buprenorphine ,medicine.drug ,Paediatric population - Abstract
Pain is one of the main symptoms reported by sick children, particularly by those suffering from cancer. Opioids are very useful in controlling this symptom but they are burdened with significant side effects that limit their use in children. Buprenorphine is a strong opioid that, due to its particular pharmacological characteristics, ensures excellent pain relief with fewer side effects than other opioids. The transdermal formulation allows for good pain control associated with optimal compliance by patients and few limitations on daily life. Unfortunately, transdermal buprenorphine use remains off-label for the control of chronic pain in children; therefore, it is desirable that new studies can validate its use in the paediatric population. This review aims to analyse the clinical advantages of transdermal buprenorphine in the paediatric population and the possible side effects registered in daily clinical practice.
- Published
- 2021
24. Kidney involvement and histological findings in two pediatric COVID-19 patients
- Author
-
William Morello, Manuela Nebuloni, Giovanni Montini, Antonio Mastrangelo, Adib Salim, Valeria Fanny Cerioni, and Jessica Serafinelli
- Subjects
Nephrology ,medicine.medical_specialty ,Pathology ,Interstitial nephritis ,Biopsy ,Kidney biopsy ,Kidney ,Glomerulonephritis ,Internal medicine ,medicine ,Humans ,Hypouricemia ,Child ,Children ,medicine.diagnostic_test ,business.industry ,SARS-CoV-2 ,Brief Report ,fungi ,COVID-19 ,Tubular damage ,Glomerulonephritis, IGA ,medicine.disease ,Microscopy, Electron ,medicine.anatomical_structure ,IgA vasculitis ,Pediatrics, Perinatology and Child Health ,Nephritis, Interstitial ,Female ,business ,Nephritis - Abstract
Background Histological findings of kidney involvement have been rarely reported in pediatric patients with SARS-CoV-2 infection. Here, we describe clinical, laboratory, and histological findings of two pediatric cases with almost exclusive kidney involvement by SARS-CoV-2. Results A 10-year-old girl with IgA vasculitis nephritis underwent kidney biopsy, showing diffuse and segmental mesangial-proliferative glomerulonephritis, and steroid therapy was initiated. After the worsening of the clinical picture, including an atypical skin rash, she was diagnosed with SARS-CoV-2. The re-evaluation of initial biopsy showed cytoplasmatic blebs and virus-like particles in tubular cells at electron microscopy. Despite SARS-CoV-2 clearance and the intensification of immunosuppression, no improvement was observed. A second kidney biopsy showed a crescentic glomerulonephritis with sclerosis, while virus-like particles were no longer evident. The second patient was a 12-year-old girl with a 3-week history of weakness and weight loss. Rhinitis was reported the month before. No medications were being taken. Blood and urine analysis revealed elevated serum creatinine, hypouricemia, low molecular weight proteinuria, and glycosuria. A high SARS-CoV-2-IgG titre was detected. Kidney biopsy showed acute tubular-interstitial nephritis. Steroid therapy was started with a complete resolution of kidney involvement. Conclusion We can speculate that in both cases SARS-CoV-2 played a major role as inflammatory trigger of the kidney damage. Therefore, we suggest investigating the potential kidney damage by SARS-CoV-2 in children. Moreover, SARS-CoV-2 can be included among infectious agents responsible for pediatric acute tubular interstitial nephritis.
- Published
- 2021
25. Efficacy of Sofosbuvir/Ledipasvir in Adolescents With Chronic Hepatitis C Genotypes 1, 3, and 4: A Real-world Study
- Author
-
Silvia Riva, Pietro Vajro, Antonina Marta Cangelosi, Daniele Serranti, Erika Silvestro, Silvia Garazzino, Michele Pinon, Fabiola Di Dato, Greta Mastrangelo, Mara Cananzi, Raffaele Iorio, Federica Nuti, Emanuele Nicastro, Lorenzo D'Antiga, Pier Luigi Calvo, P. Gaio, Roberto Antonucci, Sandra Trapani, Icilio Dodi, Silvia Ricci, Elisa Bartolini, Matteo Lenge, Giuseppe Indolfi, Gabriella Nebbia, Federica Forlanini, Vania Giacomet, Serranti, Daniele, Nebbia, Gabriella, Cananzi, Mara, Nicastro, Emanuele, DI DATO, Fabiola, Nuti, Federica, Garazzino, Silvia, Silvestro, Erika, Giacomet, Vania, Forlanini, Federica, Pinon, Michele, Luigi Calvo, Pier, Riva, Silvia, Dodi, Icilio, Marta Cangelosi, Antonina, Antonucci, Roberto, Ricci, Silvia, Bartolini, Elisa, Mastrangelo, Greta, Trapani, Sandra, Lenge, Matteo, Gaio, Paola, Vajro, Pietro, Iorio, Raffaele, D'Antiga, Lorenzo, and Indolfi, Giuseppe
- Subjects
hepatitis C virus ,Ledipasvir ,medicine.medical_specialty ,Adolescent ,Genotype ,Sofosbuvir ,growth ,Hepatitis C virus ,adolescents ,children ,direct-acting antivirals ,Hepacivirus ,medicine.disease_cause ,Antiviral Agents ,Benzimidazole ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Chronic hepatitis ,030225 pediatrics ,Internal medicine ,medicine ,Humans ,Prospective Studies ,Child ,Adverse effect ,Antiviral Agent ,Fluorenes ,Hepaciviru ,business.industry ,Ribavirin ,Gastroenterology ,Hepatitis C, Chronic ,Fluorene ,Prospective Studie ,Safety profile ,Treatment Outcome ,chemistry ,Pediatrics, Perinatology and Child Health ,Benzimidazoles ,Drug Therapy, Combination ,Female ,030211 gastroenterology & hepatology ,business ,Human ,medicine.drug - Abstract
OBJECTIVES: Sofosbuvir/Ledipasvir (SOF/LDV) has been approved by the European Medicine Agency (EMA) for the treatment of children and adolescents (at least 3 years of age) with chronic hepatitis C (CHC) genotype 1, 3, and 4 infection. The aim of this study was to evaluate the efficacy and safety of SOF/LDV in adolescents (12 to
- Published
- 2020
26. 131-I-metaiodobenzylguanidine and chemotherapy for advanced neuroblastoma
- Author
-
Antonio Ruggiero, Giorgio Attinà, and Stefano Mastrangelo
- Subjects
Oncology ,medicine.medical_specialty ,medicine.medical_treatment ,Antineoplastic Agents ,chemotherapy ,Iodine Radioisotopes ,Neuroblastoma ,children ,Internal medicine ,medicine ,Humans ,Pharmacology (medical) ,General Pharmacology, Toxicology and Pharmaceutics ,Stage (cooking) ,Child ,Solid tumor ,131-I-metaiodobenzylguanidine ,induction ,Neoplasm Staging ,Chemotherapy ,treatment ,business.industry ,Infant ,General Medicine ,Prognosis ,medicine.disease ,3-Iodobenzylguanidine ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Drug Resistance, Neoplasm ,Child, Preschool ,business - Abstract
Neuroblastoma (NB) is the most frequent solid tumor in children after cerebral tumors. The prognosis of patients over 18 months of age with stage 4 NB remains poor, despite increasingly aggressive ...
- Published
- 2021
27. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease
- Author
-
Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, UCL - (SLuc) Département de pédiatrie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, and Ajiri R., Burgmaier K., Akinci N., Broekaert I., Büscher A., Dursun I., Duzova A., Eid L. A., Fila M., Gessner M., et al.
- Subjects
Internal Diseases ,LIVER ,GENETICS ,ARPKD ,Medizin ,CHILDREN ,PKHD1 ,Sağlık Bilimleri ,İç Hastalıkları ,Clinical Medicine (MED) ,CONGENITAL HEPATIC-FIBROSIS ,UROLOGY & NEPHROLOGY ,Health Sciences ,Fibrocystin ,Klinik Tıp (MED) ,ÜROLOJİ VE NEFROLOJİ ,PRENATAL-DIAGNOSIS ,Internal Medicine Sciences ,Klinik Tıp ,RENAL-TRANSPLANTATION ,MUTATIONS ,PKD ,Dahili Tıp Bilimleri ,CLINICAL MEDICINE ,Ciliopathies ,Tıp ,CLINICAL-EXPERIENCE ,Nefroloji ,Nephrology ,DZIP1L ,Medicine - Abstract
© 2022 International Society of NephrologyIntroduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. Methods: We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. Results: We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1–6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2–6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. Conclusion: In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.
- Published
- 2022
28. LOSS OF CONTINUITY OF CARE IN PEDIATRIC NEUROLOGY SERVICES DURING COVID-19 LOCKDOWN: AN ADDITIONAL STRESSOR FOR PARENTS
- Author
-
Cesario, Serena, Abbracciavento, Giuseppe, Basile, Consuelo, Gigliotti, Federica, Manti, Filippo, Esposito, RITA MARIA, and Mastrangelo, Mario
- Subjects
children ,perceived stress ,COVID 19 pandemic, caregiver, perceived stress, children ,caregiver ,COVID 19 pandemic - Published
- 2022
29. Paediatric sudden unexpected death in epilepsy: From pathophysiology to prevention
- Author
-
Mario Mastrangelo and Dario Esposito
- Subjects
Epilepsy ,SUDEP ,Perinatal Death ,Prevention ,General Medicine ,Death, Sudden ,Children ,Status epilepticus ,Neurology ,Risk Factors ,Seizures ,Humans ,Female ,Neurology (clinical) ,Sudden Unexpected Death in Epilepsy ,Biomarkers - Abstract
Sudden unexpected death in epilepsy (SUDEP) is a fatal event, occurring in patients with epilepsy, in which seizures may or may not precede the exitus, and no other potential causes of death are identifiable. The proposed pathophysiological mechanisms for SUDEP include cardio-respiratory dysfunctions, brainstem arousal system impairment, and dysregulation in the neurotransmitter/neuromodulator systems. This narrative review provides an overview of primary research on SUDEP in paediatric populations. Some studies report an incidence of paediatric SUDEP which is about five times lower than in adults (between 0.02 and 0,34 per 1,000 person-years) even if more recent studies suggested similar incidence rates than in adulthood (between 1.20 / 1,000 and 1.45 / 1,000 person per years). Risk factors for SUDEP in children include genetic predisposition, neurological comorbidities, epilepsy phenotype, adequacy/adherence to treatment, adequate supervision by caregivers and access to adequate health care support. The early identification of risk factors, the definition of reliable biomarkers and the building of efficacious preventive strategies, including parental/caregiver counselling, novel technological devices, and pharmacological treatments, may reduce the risk of paediatric SUDEP.
- Published
- 2022
30. PRICKLE1-Related Disorders
- Author
-
Mastrangelo, M, Caputi, C., Esposito, D., and Leuzzi, V.
- Subjects
progressive myoclonic epilepsy ,children ,PRICKLE 1 ,ataxia - Published
- 2022
31. Pediatric low‑grade glioma and neurofibromatosis type 1: A single‑institution experience.
- Author
-
Ruggiero, Antonio, Attinà, Giorgio, Campanelli, Anastasia, Maurizi, Palma, Triarico, Silvia, Romano, Alberto, Massimi, Luca, Tamburrini, Gianpiero, Verdolotti, Tommaso, and Mastrangelo, Stefano
- Subjects
GLIOMAS ,CHILD patients ,NEUROFIBROMATOSIS 1 - Abstract
Background: Neurofibromatosis type 1 (NF1)‑related gliomas appear to have a clinical behavior different from that of sporadic cases. The purpose of the study was to investigate the role of different factors in influencing the tumor response rate of children receiving chemotherapy for their symptomatic glioma. Methods: Between 1995 and 2015, 60 patients with low‑grade glioma (42 sporadic cases and 18 cases with NF1) were treated. Patients with brainstem gliomas were excluded. Thirty‑nine patients underwent exclusive or postsurgical chemotherapy (vincristine/ carboplatin‑based regimen). Results: Disease reduction was achieved in 12 of the 28 patients (42.8%) with sporadic low‑grade glioma and in 9 of the 11 patients (81.8%) with NF1, with a significant difference between the 2 groups (P < 0.05). The response to chemotherapy in both the patient groups was not significantly influenced by sex, age, tumor site, and histopathology, although disease reduction occurred more frequently in children aged under 3 years. Conclusions: Our study showed that pediatric patients with low‑grade glioma and NF1 are more likely to respond to chemotherapy than those with non‑NF1. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
32. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
- Author
-
Mastrangelo, Mario, Gasparri, Valentina, Bernardi, Katerina, Foglietta, Silvia, Ramantani, Georgia, and Pisani, Francesco
- Subjects
VITAMIN B6 metabolism ,DIAGNOSIS of epilepsy ,GENETICS of epilepsy ,DIET in disease ,BIOMARKERS ,ANTICONVULSANTS ,VITAMIN B6 ,ELECTROENCEPHALOGRAPHY ,INTRAVENOUS therapy ,EPILEPSY ,SYSTEMATIC reviews ,ORAL drug administration ,MOLECULAR pathology ,DEVELOPMENTAL disabilities ,ARGININE ,ALDEHYDE dehydrogenase ,TREATMENT effectiveness ,DIET therapy ,DIETARY supplements ,LYSINE ,SOCIODEMOGRAPHIC factors ,SEIZURES (Medicine) ,OXIDOREDUCTASES ,PHENOTYPES ,NEURORADIOLOGY ,CARRIER proteins ,SYMPTOMS ,CHILDREN - Abstract
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). Patients and methods: We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected. Results: 497 published patients fulfilled the inclusion criteria. Seizure onset manifested at 59.8 ± 291.6 days (67.8% of cases in the first month of life). Clonic, tonic-clonic, and myoclonic seizures accounted for two-thirds of the cases, while epileptic spasms were observed in 7.6%. Burst-suppression/suppression-burst represented the most frequently reported specific EEG pattern (14.4%), mainly in PLPB, ALDH7A1, and PNPO deficiency. Pyridoxine was administered to 312 patients (18.5% intravenously, 76.9% orally, 4.6% not specified), and 180 also received antiseizure medications. Pyridoxine dosage ranged between 1 and 55 mg/kg/die. Complete seizure freedom was achieved in 160 patients, while a significant seizure reduction occurred in 38. PLP, lysine-restricted diet, and arginine supplementation were used in a small proportion of patients with variable efficacy. Global developmental delay was established in 30.5% of a few patients in whom neurocognitive tests were performed. Conclusions: Despite the wide variability, the most frequent hallmarks of the epilepsy phenotype in patients with vitamin B6-dependent seizures include generalized or focal motor seizure semiology and a burst suppression/suppression burst pattern in EEG. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
33. Early and Long-Term Ototoxicity Noted in Children Due to Platinum Compounds: Prevalence and Risk Factors.
- Author
-
Romano, Alberto, Rivetti, Serena, Brigato, Francesca, Mastrangelo, Stefano, Attinà, Giorgio, Maurizi, Palma, Galli, Jacopo, Fetoni, Anna Rita, and Ruggiero, Antonio
- Subjects
PLATINUM compounds ,OTOTOXICITY ,AMINOGLYCOSIDES ,AUDIOMETRY ,TUMOR treatment - Abstract
Background: Platinum compounds are a group of fundamental chemotherapeutics used in the treatment of solid tumors, but they are burdened by side effects, such as ototoxicity. The objective of this study was to evaluate the incidence of ototoxicity caused by platinum compounds and the risk factors affecting its appearance/progression. Methods: Data from 53 patients who received platinum compounds and who had been off therapy for at least 5 years were analyzed. We collected data relating to audiometry conducted annually from the end of treatment and for at least 5 subsequent years, as well as information concerning the oncological history and comorbidities. Results: At the end of the treatment, 17 patients (32.08%) presented ototoxicity, according to the Boston SIOP Ototoxicity Scale; the risk factors included a higher serum creatinine value at diagnosis, having undergone cranial radiotherapy, and needing magnesium supplementation. After 5 years from the end of the treatment, the number of patients with exhibiting ototoxicity was 31 (58.5%); the factors that influenced the onset/progression of the damage were having undergone radiotherapy (HR 1.23; p < 0.01) and having received therapy with aminoglycosides (HR 1.27; p < 0.01). Conclusions: Ototoxicity caused by platinum compounds can occur even after the conclusion of the treatments, and the factors affecting its progression are radiotherapy and the aminoglycosides therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
34. Cisplatin-induced nephrotoxicity in children: what is the best protective strategy?
- Author
-
Alberto Romano, Anna Ariano, Palma Maurizi, Giorgio Attinà, Antonio Ruggiero, Silvia Triarico, Stefano Mastrangelo, and Michele Antonio Capozza
- Subjects
Adolescent ,Antineoplastic Agents ,Pharmacology ,030226 pharmacology & pharmacy ,Nephrotoxicity ,03 medical and health sciences ,0302 clinical medicine ,children ,Cisplatin induced nephrotoxicity ,Humans ,Medicine ,Pharmacology (medical) ,Child ,Diuretics ,Cisplatin ,business.industry ,nephrotoxicity ,mannitol ,Infant ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Oncology ,Child, Preschool ,030220 oncology & carcinogenesis ,Kidney Diseases ,Mannitol ,business ,hydration ,medicine.drug - Abstract
Introduction Platinum compounds, which are considerably effective for the treatment of childhood malignancies, have significantly contributed to the increase in long-term survival of children with cancer. Unfortunately, children receiving cisplatin-based chemotherapy have been known to be at risk for severe disabling adverse effects, such as nephrotoxicity. Methods A literature research of the MEDLINE PubMed database was conducted to identify articles published between 1980 and 2019 reviewing “Cisplatin AND mannitol.” Results The primary pharmacodynamics and clinical characteristics of cisplatin were described, focusing on its renal toxic effects and potential preventive strategies, in order to improve clinical outcomes among children with cancer aged 1 to 14 years. Currently, selecting either hydration alone or hydration plus mannitol for preventing nephrotoxicity has been controversial considering the lack of guidelines to provide treatment recommendations both among adults and children. Conclusions Appropriate knowledge regarding the pharmacokinetics and toxicological profile of cisplatin may help physicians prevent renal toxicity. Unfortunately, published data regarding the nephroprotective utility of adding mannitol appear to be inconclusive. As such, appropriate hydration remains the main fundamental strategy for reducing the risk of cisplatin-induced nephrotoxicity. Considering the increasing number of children safely cured of their tumours, it is imperative that those treated with cisplatin receive the most appropriate nephroprotective strategy for reducing the negative impact of platinum compounds on quality of life.
- Published
- 2020
35. Cisplatin Toxicity in Children with Malignancy
- Author
-
Stefano Mastrangelo, Antonio Ruggiero, Silvia Triarico, Giorgio Attinà, Michele Antonio Capozza, Paola Coccia, Palma Maurizi, and Giovanna Trombatore
- Subjects
0301 basic medicine ,Pharmacology ,Cisplatin ,business.industry ,nephrotoxicity ,cisplatin ,Malignancy ,medicine.disease ,03 medical and health sciences ,ototoxicity ,Myelotoxicity ,030104 developmental biology ,0302 clinical medicine ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,030220 oncology & carcinogenesis ,Toxicity ,Neurotoxicity ,medicine ,Cancer research ,business ,Children ,medicine.drug - Abstract
Platinum’ derivates are antineoplastic agents widely adopted for their efficacy for the treatment of many pediatric cancers. The use of cisplatin has positively influenced the results of the cure of different childhood malignancies. However, cisplatin-based treatments are limited by the risk of severe and progressive toxicities, such as oto- or nephrotoxicity, that can be more serious in very young children expecially when high cumulative doses and/or radiotherapy is administered. A correct knowledge of the cisplatin’ pharmacological features might be of interest for clinicians in order to manage its potential toxicities. Based on the positive trend in the cure of children with cancer, it is crucial that all children receiving cisplatin-based chemotherapy have and appropriate and long-term follow-up to improve their quality of life.
- Published
- 2019
36. Nutritional status in the pediatric oncology patients
- Author
-
Antonio Ruggiero, Stefano Mastrangelo, Palma Maurizi, Alberto Romano, Giorgio Attinà, Emanuele Rinninella, and Silvia Triarico
- Subjects
Sarcopenia ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,General Immunology and Microbiology ,Neoplasms ,Malnutrition ,Quality of Life ,Humans ,Nutritional Status ,Pediatric oncology ,Child ,Children ,General Biochemistry, Genetics and Molecular Biology ,Cancer - Abstract
Nutritional status plays a vital role in the growth of children. In pediatric patients, disease-related malnutrition is a dynamic and multifactorial process supported by several factors such as inflammation, increased energy expenditure, decreased intake or reduced utilization of nutrients. In pediatric patients with malignancies, sarcopenia may coexist with malnutrition, amplifying its negative impact on prognosis. Careful monitoring of nutritional status both at diagnosis and during chemotherapy treatment allows early detection of the risk and/or presence of malnutrition. A rapid and personalized nutritional intervention can improve adherence to treatment, reduce complications and improve the patients' quality of life.
- Published
- 2021
37. Actual insights into the clinical management of febrile seizures
- Author
-
Mastrangelo, Mario, Midulla, Fabio, and Moretti, Corrado
- Published
- 2014
- Full Text
- View/download PDF
38. Impact of COVID-19 Pandemic in Children with CKD or Immunosuppression
- Author
-
Antonio, Mastrangelo, William, Morello, Enrico, Vidal, Isabella, Guzzo, Luigi, Annicchiarico Petruzzelli, Elisa, Benetti, Marco, Materassi, Mario, Giordano, Andrea, Pasini, Ciro, Corrado, Giuseppe, Puccio, Roberto, Chimenz, Carmine, Pecoraro, Laura, Massella, Licia, Peruzzi, and Giovanni, Montini
- Subjects
Male ,medicine.medical_specialty ,2019-20 coronavirus outbreak ,Adolescent ,Coronavirus disease 2019 (COVID-19) ,Epidemiology ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,medicine.medical_treatment ,glomerular disease ,030232 urology & nephrology ,Comorbidity ,030204 cardiovascular system & hematology ,Critical Care and Intensive Care Medicine ,Risk Assessment ,chronic kidney disease ,COVID-19 ,immunosuppression ,kidney transplantation ,children ,Immunocompromised Host ,03 medical and health sciences ,0302 clinical medicine ,Renal Dialysis ,Risk Factors ,Internal medicine ,Pandemic ,Humans ,Medicine ,Renal Insufficiency, Chronic ,Child ,Age Factors ,Child, Preschool ,Female ,Infant ,Italy ,Kidney Transplantation ,Kidney transplantation ,Transplantation ,business.industry ,Outbreak ,Immunosuppression ,medicine.disease ,Research Letters ,Nephrology ,Dialysis unit ,business - Abstract
Infections are a major concern in children on KRT and with CKD. Risk factors include immunosuppression, multiple contacts in dialysis units, and hospital visits ([1][1]). Italy was one of the countries most affected by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak ([2][2
- Published
- 2020
39. Paediatric sudden unexpected death in epilepsy: From pathophysiology to prevention.
- Author
-
Mastrangelo, Mario and Esposito, Dario
- Abstract
Sudden unexpected death in epilepsy (SUDEP) is a fatal event, occurring in patients with epilepsy, in which seizures may or may not precede the exitus, and no other potential causes of death are identifiable. The proposed pathophysiological mechanisms for SUDEP include cardio-respiratory dysfunctions, brainstem arousal system impairment, and dysregulation in the neurotransmitter/neuromodulator systems. This narrative review provides an overview of primary research on SUDEP in paediatric populations. Some studies report an incidence of paediatric SUDEP which is about five times lower than in adults (between 0.02 and 0,34 per 1,000 person-years) even if more recent studies suggested similar incidence rates than in adulthood (between 1.20 / 1,000 and 1.45 / 1,000 person per years). Risk factors for SUDEP in children include genetic predisposition, neurological comorbidities, epilepsy phenotype, adequacy/adherence to treatment, adequate supervision by caregivers and access to adequate health care support. The early identification of risk factors, the definition of reliable biomarkers and the building of efficacious preventive strategies, including parental/caregiver counselling, novel technological devices, and pharmacological treatments, may reduce the risk of paediatric SUDEP. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
40. Platinum compounds and sodium metabolism in children with diencephalic glioma
- Author
-
Puma, N., Ruggiero, A., Scalzone, M., Coccia, P., Triarico, S., Trombatore, G., Mastrangelo, S., and Riccardi, R.
- Published
- 2013
- Full Text
- View/download PDF
41. Adult medulloblastoma: an overview on current and future strategies of treatment
- Author
-
Palma Maurizi, Michele Antonio Capozza, Giorgio Attinà, Giovanna Trombatore, Stefano Mastrangelo, Silvia Triarico, and Antonio Ruggiero
- Subjects
Oncology ,medicine.medical_specialty ,Adult Medulloblastoma ,medicine.medical_treatment ,Adult population ,SHH pathway ,chemotherapy ,Targeted therapy ,03 medical and health sciences ,0302 clinical medicine ,children ,Internal medicine ,adults ,medicine ,Pharmacology (medical) ,Pharmacology, Toxicology and Pharmaceutics (miscellaneous) ,radiotherapy ,Medulloblastoma ,Chemotherapy ,Settore MED/06 - ONCOLOGIA MEDICA ,business.industry ,Health Policy ,targeted therapy ,medicine.disease ,Radiation therapy ,030220 oncology & carcinogenesis ,business ,030217 neurology & neurosurgery - Abstract
Introduction: Medulloblastoma (MB) is the most common brain malignant tumor in children, conversely it is less frequent among adult population, accounting less 1% of adult intracranial tumo...
- Published
- 2019
42. Oral Microbiota during Childhood and Its Role in Chemotherapy-Induced Oral Mucositis in Children with Cancer
- Author
-
Silvia Triarico, Pierpaolo Agresti, Emanuele Rinninella, Maria Cristina Mele, Alberto Romano, Giorgio Attinà, Palma Maurizi, Stefano Mastrangelo, and Antonio Ruggiero
- Subjects
Microbiology (medical) ,stomatognathic diseases ,Infectious Diseases ,children ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,General Immunology and Microbiology ,cancer ,Immunology and Allergy ,Settore MED/49 - SCIENZE TECNICHE DIETETICHE APPLICATE ,chemotherapy ,oral microbiota ,Molecular Biology ,oral mucositis - Abstract
The human oral cavity harbors the second most abundant microbiota after the gastrointestinal tract, with over 700 species currently identified in the oral microflora. The oral microbiota develops from intrauterine life and after birth is continuously shaped by several influencing factors. The perturbation of the diversity and proportions of species within the oral microbiota leads to dysbiosis and associated increased risk of local and systemic diseases. In children who receive chemotherapy for cancer, oral mucositis is a common and painful side effect that decreases quality of life (QoL) and treatment adherence. The oral microbiota undergoes a substantial dysbiosis as an effect of cancer and its treatment, characterized by lower richness and less diversity. Furthermore, this dysbiosis seems to promote pro-inflammatory cytokine release and pro-apoptotic mediators, enhancing the oral tissue damage. Further studies on the role of the oral microbiota in the pathogenesis of oral mucositis should be performed among children with cancer who receive chemotherapy, to find preventive and protective factors against the pathogenesis of oral mucositis.
- Published
- 2022
43. Management of Oral Mucositis in Children With Malignant Solid Tumors
- Author
-
Giorgio Attinà, Sara D’Amuri, Palma Maurizi, Silvia Triarico, Michele Antonio Capozza, Alberto Romano, Antonio Ruggiero, and Stefano Mastrangelo
- Subjects
Cancer Research ,medicine.medical_specialty ,medicine.medical_treatment ,Population ,Neutropenia ,chemotherapy ,lcsh:RC254-282 ,World health ,03 medical and health sciences ,0302 clinical medicine ,children ,Internal medicine ,Mucositis ,Medicine ,cancer ,pain ,education ,Original Research ,Chemotherapy ,education.field_of_study ,business.industry ,030206 dentistry ,medicine.disease ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Pediatric cancer ,mucositis ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Oncology ,030220 oncology & carcinogenesis ,Complication ,business ,Pediatric population - Abstract
IntroductionIn recent years, the use of intensive regimens for the treatment of pediatric cancer has led to a marked improvement in patient survival. However, these treatments are associated with an increase in toxic effects. Among these side effects, mucositis (inflammation of the oral cavity) significantly affect the success of treatment. The aim of this study was to assess the prevalence of mucositis in a pediatric population with solid tumor and undergoing chemotherapy, identify the risk factors that influence its occurrence, and verify the usefulness of pain rating scales.MethodsWe registered episodes of mucositis which occurred in a sample of 84 consecutive children with solid tumors between 1 January, 2012 and 30 April, 2018. The World Health Organization (WHO) oral mucositis grading scale and the modified Wong–Baker FACES Pain Rating Scale (WBS) were used to assess the severity of each episode. Moreover, data on the treatments used and blood count results were collected.ResultsThe prevalence of mucositis in our population was 50%, without statistically significant difference according to sex and a higher prevalence observed in patients aged >10 years. The presence of neutropenia, higher number of cycles of chemotherapy, and co-existence of lymphomas and sarcomas were identified as factors favoring the occurrence of mucositis. The WBS showed results superimposed on the WHO oral mucositis grading scale in choosing the intensity and duration of mucositis treatment.ConclusionOral mucositis is a common complication of chemotherapy against childhood malignancies. The WHO oral mucositis scale is a valuable tool for assessing its severity in pediatric patients. Furthermore, WBS can be used as an assessment tool to establish the therapy to be adopted for patients in whom direct evaluation of the oral cavity is not possible.
- Published
- 2021
44. Opioid transdermal delivery system: a useful method for pain management in children
- Author
-
Giorgio Attinà, Palma Maurizi, Stefano Mastrangelo, Antonio Ruggiero, Michele Antonio Capozza, Silvia Triarico, and Alberto Romano
- Subjects
fentanyl ,Fentanyl ,03 medical and health sciences ,0302 clinical medicine ,children ,medicine ,Transdermal ,business.industry ,Chronic pain ,General Medicine ,Pain management ,medicine.disease ,Buprenorphine ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Opioid ,030220 oncology & carcinogenesis ,Anesthesia ,transdermal ,Drug delivery ,opioid ,Delivery system ,business ,030217 neurology & neurosurgery ,medicine.drug ,Review Article on Pain Therapy - Abstract
Transdermal delivery system (TDDS) is a non-invasive and less expensive method for drug delivery. Despite its feasibility, only a restricted group of drugs can be delivered by TDDS, because of the little permeability of skin. Moreover, TDDS is limited to lipophilic drugs with small molecular masses and it is not indicated for peptides, macromolecules and hydrophilic drugs. Among opioids, fentanyl and buprenorphine are suitable for transdermal administration only for chronic pain management (not for acute pain). However, opioid TDDS still remains off-label for chronic pain management in children. In this review, we describe the main features of the adhesive TDDS and the main characteristics of pediatric skin and the differences from the adult one. Moreover, we focus on fentanyl and buprenorphine patches and their non-invasive mechanism of action, and on the main aspects that make them suitable for pain management among the pediatric population.
- Published
- 2021
45. Acute ischemic stroke in childhood: a comprehensive review
- Author
-
Danilo Toni, Giacomina Ricciardi, Laura Giordo, Manuela De Michele, Vincenzo Leuzzi, and Mario Mastrangelo
- Subjects
Pediatrics ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Neuroimaging ,Review ,law.invention ,Brain Ischemia ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,law ,030225 pediatrics ,Medicine ,Pediatric stroke ,Humans ,Thrombolytic Therapy ,Recanalization therapies ,Child ,Acute ischemic stroke ,Stroke ,Children ,Ischemic Stroke ,Randomized Controlled Trials as Topic ,business.industry ,Incidence (epidemiology) ,Infant, Newborn ,Thrombolysis ,medicine.disease ,Treatment Outcome ,Pediatrics, Perinatology and Child Health ,Diagnostic protocol ,business ,Live birth ,Intracranial Hemorrhages ,030217 neurology & neurosurgery - Abstract
This review provides an updated analysis of the main aspects involving the diagnosis and the management of children with acute ischemic stroke. Acute ischemic stroke is an emergency of rare occurrence in children (rate of incidence of 1/3500 live birth in newborns and 1–2/100,000 per year during childhood with peaks of incidence during the perinatal period, under the age of 5 and in adolescence). The management of ischemic stroke in the paediatric age is often challenging because of pleomorphic age-dependent risk factors and aetiologies, high frequency of subtle or atypical clinical presentation, and lacking evidence-based data about acute recanalization therapies. Each pediatric tertiary centre should activate adequate institutional protocols for the optimization of diagnostic work-up and treatments.Conclusion: The implementation of institutional standard operating procedures, summarizing the steps for the selection of candidate for neuroimaging among the ones presenting with acute neurological symptoms, may contribute to shorten the times for thrombolysis and/or endovascular treatments and to improve the long-term outcome. What is Known:•Acute ischemic stroke has a higher incidence in newborns than in older children (1/3500 live birth versus 1–2/100,000 per year).•Randomized clinical trial assessing safety and efficacy of thrombolysis and/or endovascular treatment were never performed in children What is New:•Recent studies evidenced a low risk (2.1% of the cases) of intracranial haemorrhages in children treated with thrombolysis.•A faster access to neuroimaging and hyper-acute therapies was associated with the implementation of institutional protocols for the emergency management of pediatric stroke.
- Published
- 2021
46. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
- Author
-
Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas, Clinical sciences, Pediatrics, Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, and National Center for Tumor Diseases (Germany)
- Subjects
Biogenic Amines ,Movement disorders ,Child, preschool ,Science ,Metabolic disorders ,General Physics and Astronomy ,Congenital microcephaly ,Paediatric research ,Bioinformatics ,Article ,General Biochemistry, Genetics and Molecular Biology ,neurotransmitter disorders ,dopamine ,children ,Pregnancy ,Biogenic Amines/metabolism ,Humans ,Medicine ,Neurotransmitter metabolism ,Global developmental delay ,Multidisciplinary ,business.industry ,Confounding ,Genetic Diseases, Inborn ,Infant, Newborn ,Infant ,General Chemistry ,International working group ,Delivery, Obstetric ,medicine.disease ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,Phenotype ,Paediatric neurological disorders ,Child, Preschool ,Genetic Diseases, Inborn/diagnosis ,Small for gestational age ,Female ,pregnancy ,medicine.symptom ,business - Abstract
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders., We thank all patients and their families for their contributions to this study and for their trust. T.H. and J.K. were supported the grant from the Ministry of Health of the Czech Republic RVO-VFN 64165 GJIH-0599-00-7-846 and ProgresQ26/LF1. A.G.C. and N.J.P. are supported by FIS P118/00111 “Instituto de Salud Carlos III (ISCIII)” and “Fondo Europeo de desarrollo regional (FEDER)”. T.O., K.J., G.F.H. and O.K.H. were supported in parts by the Dietmar Hopp Foundation, St. Leon-Rot, Germany. M.A.K. is funded by an NIHR Professorship, the Sir Jules Thorn Award for Biomedical Research and the Rosetrees trust. M.V. is supported by Stichting Stofwisselkracht Grant. D.H. acknowledges funding by the Molecular Diagnostics Program of the National Center for Tumor Diseases (NCT) Heidelberg.
- Published
- 2021
47. Role of Partial Splenectomy in Hematologic Childhood Disorders
- Author
-
Giorgio Attinà, Silvia Triarico, Stefano Mastrangelo, Alberto Romano, Antonio Ruggiero, and Palma Maurizi
- Subjects
Microbiology (medical) ,medicine.medical_specialty ,hematologic disorders ,medicine.medical_treatment ,Splenectomy ,Spleen ,Review ,vaccinations ,Sepsis ,sepsis ,Hematologic disorders ,children ,Immunology and Allergy ,Medicine ,Antibiotic prophylaxis ,Prospective cohort study ,Intensive care medicine ,Molecular Biology ,partial splenectomy ,General Immunology and Microbiology ,business.industry ,medicine.disease ,Vaccination ,Partial splenectomy ,Infectious Diseases ,medicine.anatomical_structure ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,prophylaxis ,business - Abstract
The spleen is a secondary lymphoid organ that belongs to the reticular-endothelial system, directly connected to blood circulation. The spleen is greatly involved in the immune response, especially against capsulated bacteria. Splenectomy plays a fundamental role in the treatment of numerous pediatric hematologic disorders. Taking into account all the possible complications (especially infections) linked to this procedure, alternatives to total splenectomy have been sought. Partial splenectomy has been proposed as a treatment that allows the reduction of infectious risk. This approach has proven safe and feasible in most patients, but multicentric and prospective studies are necessary to more accurately define the indications for performing partial splenectomy. However, vaccinations and antibiotic prophylaxis remain fundamental for preventing serious infections, even in the case of partial splenectomy. We review anatomical and functional properties of the spleen, with a focus on medical or surgical indications to splenectomy, aiming to give practical educational information to patients and their families after splenectomy. Furthermore, we discuss the feasibility of partial splenectomy in children with hematologic diseases who require splenectomy.
- Published
- 2021
48. Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management
- Author
-
Mario Mastrangelo
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Neurology ,Epileptic and developmental encephalopathies ,Neurotransmission ,Glycine encephalopathy ,Biochemistry ,Biogenic amine ,Children ,GABA ,Serine metabolism disorders ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Epilepsy ,chemistry.chemical_compound ,0302 clinical medicine ,Neurotransmitter receptor ,medicine ,Humans ,Neurotransmitter metabolism ,Receptor ,Neurotransmitter ,business.industry ,Brain Diseases, Metabolic, Inborn ,medicine.disease ,030104 developmental biology ,chemistry ,Neurology (clinical) ,business ,Neuroscience ,030217 neurology & neurosurgery - Abstract
Inborn errors of neurotransmitter metabolism are ultrarare disorders affecting neurotransmitter biosynthesis, breakdown or transport or their essential cofactors. Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is the main clinical hallmark in some of these diseases (e.g. disorders of GABA metabolism, glycine encephalopathy) while it is infrequent in others (e.g. all the disorders of monoamine metabolism in exception for dihydropteridine reductase deficiency). This review analyzes the epileptogenic mechanisms, the epilepsy phenotypes and the principle for the clinical management of epilepsy in primary and secondary inherited disorders of neurotransmitter metabolism (disorders of GABA, serine and glycine metabolism, disorders of neurotransmitter receptors and secondary neurotransmitter diseases).
- Published
- 2021
49. BRAF and MEK Targeted Therapies in Pediatric Central Nervous System Tumors.
- Author
-
Talloa, Dario, Triarico, Silvia, Agresti, Pierpaolo, Mastrangelo, Stefano, Attinà, Giorgio, Romano, Alberto, Maurizi, Palma, and Ruggiero, Antonio
- Subjects
GENETIC mutation ,SEQUENCE analysis ,CENTRAL nervous system tumors ,ANTINEOPLASTIC agents ,TUMORS in children ,CELLULAR signal transduction ,TRANSFERASES ,MITOGEN-activated protein kinases ,PHARMACODYNAMICS ,CHEMICAL inhibitors - Abstract
Simple Summary: This review is divided into two parts. The first analyzes the mechanisms of two important cellular pathways that are involved in tumoral proliferation, differentiation, migration, and angiogenesis: RAS/RAF/MEK/MAPK and PI3K/AKT/mTOR. The second part focuses on the currently available experience regarding targeted therapies against the mitogen-activated protein kinase (MAPK) pathway in pediatric CNS tumors, with the hope of offering a practical guide for consultation. BRAF is a component of the MAPK and PI3K/AKT/mTOR pathways that play a crucial role in cellular proliferation, differentiation, migration, and angiogenesis. Pediatric central nervous system tumors very often show mutations of the MAPK pathway, as demonstrated by next-generation sequencing (NGS), which now has an increasing role in cancer diagnostics. The MAPK mutated pathway in pediatric CNS tumors is the target of numerous drugs, approved or under investigation in ongoing clinical trials. In this review, we describe the main aspects of MAPK and PI3K/AKT/mTOR signaling pathways, with a focus on the alterations commonly involved in tumorigenesis. Furthermore, we reported the main available data about current BRAF and MEK targeted therapies used in pediatric low-grade gliomas (pLLGs), pediatric high-grade gliomas (pHGGs), and other CNS tumors that often present BRAF or MEK mutations. Further molecular stratification and clinical trial design are required for the treatment of pediatric CNS tumors with BRAF and MEK inhibitors. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
50. Diagnostic work-up and therapeutic options in management of pediatric status epilepticus
- Author
-
Mastrangelo, Mario and Celato, Andrea
- Published
- 2012
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.