Explanipedia

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop Open

Antonella Riva, Gianluca D’Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin , et al. · 2025

Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical…

Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy Open

Giovanni Battista Dell’Isola, Antonella Fattorusso, F Pisani, Mario Mastrangelo, Duccio Maria Cordelli , et al. · 2024

Isolated Intracranial Hypertensions as Onset of Myelin Oligodendrocyte Glycoprotein Antibody Disease Open

Laura Papetti, Giulia Moltoni, Daniela Longo, Gabriele Monte, Francesco Dellepiane , et al. · 2024

Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) is characterized by multiple phenotypic conditions such as acute disseminated encephalomyelitis, optic neuritis, and myelitis. MOGAD’s spectrum is expanding, with potential sympt…

Child Maltreatment and Psychopathology: A Brief Review on the Potential Role of the Hypothalamic-pituitary-adrenal Axis Open

Pietro Ferrara, Ignazio Cammisa, Margherita Zona, Ivana Pacucci, Maria Teresa Grimaldi , et al. · 2024

: Child maltreatment is a widespread global issue involving any form of harm or neglect by a parent or caregiver, leading to various forms of physical or emotional damage, with approximately 150 million affected children globally. : This s…

Predictive Role of Fluorescein Angiography in Retinopathy of Prematurity Open

Gianluca Dini, Alfredo Beccasio, Francesco Della Lena, Alberto Verrotti, Carlo Cagini · 2024

Background: Fluorescein angiography (FA) has been a pivotal tool for studying the pathophysiology of retinopathy of prematurity (ROP) in vivo. We examined the course of ROP using FA to assess the predictive value of angiographic features. …

The Effectiveness of Glycopyrronium in Drooling Managment: A Scoping Review Protocol Open

Giovanni Battista Dell’Isola, Antonella De Lillo, Martina Giorgia Perinelli, Valeria Ottaviani, Pasquale Striano , et al. · 2024

The management of pediatric drooling presents challenges requiring tailored therapeutic approaches. This scoping review examines the efficacy and safety of glycopyrronium in addressing drooling across diverse pediatric populations. Glycopy…

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 Open

Valeria Calcaterra, Gianluca Tornese, Gianvincenzo Zuccotti, Annamaria Staiano, Valentino Cherubini , et al. · 2024

Pharmacodynamic rationale for the choice of antiseizure medications in the paediatric population Open

Gianluca D’Onofrio, Roberta Roberti, Antonella Riva, Emilio Russo, Alberto Verrotti , et al. · 2024

In the landscape of paediatric epilepsy treatment, over 20 anti-seizure medications (ASMs) have gained approval from Drug Regulatory Agencies, each delineating clear indications. However, the complexity of managing drug-resistant epilepsy …

Meconium aspiration syndrome: from pathophysiology to treatment Open

Gianluca Dini, Sara Ceccarelli, Federica Celi, Carla Maria Semeraro, Paolo Gorello , et al. · 2024

Meconium aspiration syndrome (MAS) is a clinical condition characterized by respiratory distress in neonates born through meconium-stained amniotic fluid (MSAF). Despite advances in obstetric practices and perinatal care, MAS remains an im…

Drug resistant epilepsies: A multicentre case series of steroid therapy Open

Raffaele Falsaperla, Ausilia Desiree Collotta, Simona Domenica Marino, Vincenzo Sortino, Roberta Leonardi , et al. · 2024

A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus Open

Roberta Roberti, Antonella Riva, Gianluca D’Onofrio, Emanuele Giacheri, Elisabetta Amadori , et al. · 2024

Current Overview of CDKL-5 Deficiency Disorder Treatment Open

Giovanni Battista Dell’Isola, Katherin Elizabeth Portwood, Kirsten Consing, Antonella Fattorusso, Arnaldo Bartocci , et al. · 2024

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine–threonine kinase involved in neural maturation and synaptogenesis [...]

Traditional and innovative interventions in the management of enuresis Open

Pietro Ferrara, Ignazio Cammisa, Margherita Zona, Antonio Gatto, Roberto Sacco , et al. · 2024

Multiple treatment approaches, both pharmacological and non pharmacological, have been established and validated to reduce signs and symptoms of NE and improve quality of life and the social and emotional discomfort experienced by children…

Quo Vadis, pediatrics? Upcoming challenges and opportunity in child health Open

Francesco Valitutti, Alberto Verrotti · 2023

Pediatric practice daily deals with physical/emotional well-being and affections of children from birth to young adulthood. It embraces health issues of each child, in a wider context of the family and the whole society. As a medical field…

NFIA haploinsufficiency: case series and literature review Open

Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli , et al. · 2023

Background NFIA -related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affe…

Effect of melatonin on sleep quality and EEG features in childhood epilepsy: a possible non-conventional treatment Open

Giovanni Battista Dell’Isola, Giorgia Tascini, Valerio Vinti, Eleonora Tulli, Gianluca Dini , et al. · 2023

Background Sleep and epilepsy are characterized by a bidirectional relationship. Indeed, epilepsy predisposes to the development of sleep disorders, while sleep deprivation may exacerbate epilepsy. In addition, antiseizure medication can d…

Minipuberty assessment in newborns with hypoxic ischemic encephalopathy treated with therapeutic hypothermia: a single-center case–control study Open

Lucia Lanciotti, Rossella Sica, Laura Penta, Francesca Parisi, Alberto Argentiero , et al. · 2023

Introduction The aim of our single-center case–control study is to evaluate whether minipuberty occurs in patients with hypoxic ischemic encephalopathy (HIE) who underwent therapeutic hypothermia (TH). We intend to conduct this evaluation …

Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study Open

Umberto Raucci, Pasquale Parisi, Valentina Ferro, Erika Margani, Nicola Vanacore , et al. · 2023

Background Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache. We investigated the cl…

Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study Open

Sara Matricardi, Elisabetta Cesaroni, Paolo Bonanni, Nicoletta Foschi, Alfredo D’Aniello , et al. · 2023

This retrospective study assessed long‐term effectiveness of add‐on perampanel (PER) in patients with Lennox–Gastaut syndrome (LGS). Outcomes included time to PER failure and time to seizure relapse in responders. PER failure was defined a…

Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome Open

Giovanni Battista Dell’Isola, Gianluca Dini, Kaleb Logan Culpepper, Katherin Elizabeth Portwood, Pietro Ferrara , et al. · 2023

Background Aicardi–Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phen…

Corrigendum: Improving therapy of pharmacoresistant epilepsies: The role of fenfluramine Open

Gianluca Dini, Eleonora Tulli, Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Giuseppe Di Cara , et al. · 2023

[This corrects the article DOI: 10.3389/fphar.2022.832929.].

Infective endocarditis caused by <i>Gemella haemolysans</i> in a patient with bicuspid aortic valve: A case report Open

Gianluca Dini, Alberto Verrotti, E Girella, Francesca De Angelis, Mariagrazia Sardone , et al. · 2023

Gemella haemolysans is a gram-positive coccus, and commensal of the upper respiratory tract and oral mucosa. In rare cases, it has been identified as an opportunistic pathogen in the development of endocarditis. Here, we describe a case of…

4q interstitial and terminal deletion: clinical features comparison in two unrelated children Open

Piero Pavone, Xena Giada Pappalardo, Riccardo Lubrano, Salvatore Savasta, Alberto Verrotti , et al. · 2023

The 4q deletion syndrome defines a disorder, which may involve patients affected by either the deletion of the interstitial region from the centromere to 4q31 or by the deletion of the terminal region from 4q31 to 4qter. Here, we describe…

Acute lymphoblastic leukemia relapse presenting with optic nerve infiltration Open

Gianluca Dini, Ilaria Capolsini, Carla Cerri, Maria Speranza Massei, Elena Mastrodicasa , et al. · 2023

Acute lymphoblastic leukemia is the most common childhood malignancy. Despite many advances in therapy, about 15%–20% of children with acute lymphoblastic leukemia experience a disease relapse. Isolated ocular relapse is relatively rare. A…

Clinical comparison between terminal and interstitial 4q deletion in two unrelated children Open

Xena Giada Pappalardo, Riccardo Lubrano, Alberto Verrotti, Pasquale Parisi, Raffaele Falsaperla , et al. · 2022

Background. The term “4q deletion syndrome” is defined to include two different regions: an interstitial sequence deleted from the centromere to 4q31 and a terminal deletion from 4q31 to 4qter. Objective. To compare clinical similarities a…

Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP) Open

Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci , et al. · 2022

Background Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and …

Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham’s Chorea: A Multicenter Prospective Study Open

Alessandro Orsini, Thomas Foiadelli, Attilio Sica, Andrea Santangelo, Niccolò Carli , et al. · 2022

Sydenham’s chorea (SC) is a post-streptococcal autoimmune disorder of the central nervous system, and it is a major criterium for the diagnosis of acute rheumatic fever (ARF). SC typically improves in 12–15 weeks, but patients can be affec…

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease Open

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca, Yavuz Şahin, Aisha Al Shamsi , et al. · 2022

Loss of the C-terminal of MED subunit 11 may affect its binding efficiency to other MED subunits, thus implicating the MED-complex stability in brain development and neurodegeneration.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations Open

Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera , et al. · 2022

Biologic therapies for juvenile idiopathic arthritis-associated uveitis Open

Gianluca Dini, Giovanni Battista Dell’Isola, Alfredo Beccasio, Giuseppe Di Cara, Alberto Verrotti , et al. · 2022

Juvenile idiopathic arthritis (JIA) is the most frequent rheumatic disease of childhood and uveitis is its most common extra-articular manifestation. JIA-associated uveitis (JIA-U) is one of the main causes of visual impairment in children…

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