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Article
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant
GNAO1 encephalopathy is characterized by severe hypotonia, psychomotor retardation, epilepsy, and movement disorders. Genetic variations in GNAO1 have been linked to neurological symptoms including movement disor...
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Article
Open AccessPoint-of-care ultrasound (POCUS) pediatric resident training course: a cross-sectional survey
Point-of-care ultrasound (POCUS) is becoming increasingly crucial in the Pediatric Emergency Department for objective patient examination. However, despite its growing interest and wide-ranging applications, P...
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Article
Open AccessAdolescent 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
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...
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Article
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through the blood–brain barrier (BBB) due to mutation involving the GLUT-1 transporter. The fu...
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Comment on: “Steps to Improve Precision Medicine in Epilepsy”: Are we all Agreed on the Definition?
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Article
Simple febrile seizures: new cut off for the duration of the crises
Our study aimed to identify a new cut-off for febrile seizure (FS) with a good prognosis, thereby replacing the 15 min described in the standard definition of simple febrile seizure (SFS).
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Article
Open AccessUPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants
Bronchiolitis is an acute respiratory illness that is the leading cause of hospitalization in young children. This document aims to update the consensus document published in 2014 to provide guidance on the cu...
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Article
Open AccessFebrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases
FIRES is defined as a disorder that requires a prior febrile infection starting between 2 weeks and 24 h before the onset of the refractory status epilepticus with or without fever at the onset of status epile...
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Article
Open AccessPathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct c...
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Article
Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis
Multiple primary malignancies (MPM) are defined as tumors originating in the same individual without any correlation between them. In addition to morphological and immunohistochemical analyses, sensitive DNA s...
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Article
Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review
Acute autoimmune encephalitis is a severe neurological disorder presenting with altered level of consciousness, confusion, irritability, headache, vomiting, and in some cases seizures. An infective event prece...
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Open AccessNeonatal neurologic emergencies requiring access to paediatric emergency units: a retrospective observational study
Herein, authors present a retrospective, multi-center study to determine the number of accesses to Pediatric Emergency Unit (PEU) of patients within 28 days of life, admitted to (1) the Acute and Emergency Ped...
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Article
Open AccessDiagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic review
Ophthalmoplegic migraine, renamed "Recurrent Painful Ophthalmoplegic Neuropathy" (RPON) in 2013 by the International Headache Society is a rare neurologic disorder characterized by recurrent attacks of ophthalmop...
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Article
Open AccessEvidences of emerging pain consciousness during prenatal development: a narrative review
The study of consciousness has always been considered a challenge for neonatologists, even more when considering the uterine period. Our review aimed to individuate at what gestational age the fetus, which lat...
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Article
Open AccessAlternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is m...
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Article
Open AccessSutures ultrasound: useful diagnostic screening for posterior plagiocephaly
Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurolog...
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Article
COVID-19 vaccination for children: may be necessary for the full eradication of the disease
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Article
Open AccessNeonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intrav...
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Article
Open AccessObservational study on the efficiency of Neonatal Emergency Transport in reducing mortality and morbidity indexes in Sicily
In these last 25 years, the Neonatal Emergency Transport (NET) service has been widely improved in Italy. To date, all National areas are covered by a NET service; 53 NET centers have been activated in all the...
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Article
Open AccessTreating the symptom or treating the disease in neonatal seizures: a systematic review of the literature
The existing treatment options for neonatal seizures have expanded over the last few decades, but no consensus has been reached regarding the optimal therapeutic protocols. We systematically reviewed the avail...
