Explanipedia

150P Assessing the impact of comprehensive genomic profiling on therapeutic selection for advanced solid tumors in Portugal Open

N. Tavares, Sara Dâmaso, Raquel Lopes-Brás, Teresa R. Pacheco, Helena Guedes , et al. · 2025

Exploring Aneurysmal Bone Cysts of the Skull: Insights from a Review of the Literature and a Case Report Open

Flavio Panico, Leonardo Bradaschia, Pasquale Cardellicchio, Fabio Cofano, Enrico Lo Bue , et al. · 2025

Background/Objectives: Aneurysmal bone cysts (ABCs) are rare bone tumors that can occur in the skull, leading to extensive bone destruction and compression of surrounding tissues. Due to the rarity of these lesions, there are limited data …

Paediatric Meningioangiomatosis PD-L1+: A Case Report Open

Gabriele Gaggero, Silvia Bozzano, Antonia Ramaglia, Claudia Milanaccio, Marco Pavanello · 2025

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Subcutaneous Pediatric Nasal Glial Heterotopia Open

Gabriele Gaggero, Margherita Concardi, Marco Pavanello, Andrea Rossi, Jacopo Ferro , et al. · 2025

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center Open

Ferruccio Romano, Patrizia De Marco, Giulia Amico, Marisa Mallamaci, Marco Pavanello , et al. · 2025

Introduction Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and vein of Galen dilatation, which are considered secondary to arteriovenous malformations or arteriovenous fistulas. These enti…

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1 Open

Ferruccio Romano, Maria Cerminara, Patrizia De Marco, Michele Iacomino, Marco Di Duca , et al. · 2025

Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or anomalies in cerebral spinal fluid c…

Update on the role of S100B in traumatic brain injury in pediatric population: a meta-analysis Open

Alberto Morello, Irene Schiavetti, Enrico Lo Bue, Irene Portonero, Stefano Colonna , et al. · 2024

Objective Cranial computed tomography (CT) scan is the most widely used tool to rule out intracranial lesions after pediatric traumatic brain injury (TBI). However, in pediatric population, the radiation exposure can lead to an increased r…

IMG-24. MAPK-ALTERED PEDIATRIC LOW-GRADE GLIOMA: MRI HINTS TO EXPLAIN THE INTERPLAY BETWEEN GLIOMA AND IMMUNE CELLS Open

Antonia Ramaglia, Gianluca Piccolo, Marta Molteni, Claudia Mercuri, Gabriele Gaggero , et al. · 2024

BACKGROUND In MAPK-altered pediatric low-grade glioma (pLGG), immune infiltration may be involved in treatment response. It is debated whether tumor immune cell infiltration is due to expansion of endogenous resident microglia or to the ac…

Surgical Management of Chiari Malformation Type I in the Pediatric Population: A Single-Center Experience Open

Maria Sole Venanzi, Marco Pavanello, Mattia Pacetti, Francesca Secci, Andrea Rossi , et al. · 2024

Background: Chiari malformation type 1 (CM-1) involves the cerebellar tonsils’ descent below the foramen magnum. In Chiari malformation type 1.5 (CM-1.5), both the cerebellar tonsils and the brainstem are herniated. Common symptoms include…

Proteomic Profiling of Cerebrospinal Fluid and Its Extracellular Vesicles from Extraventricular Drainage in Pediatric Pilocytic Astrocytoma, towards Precision Oncology Open

Sonia Spinelli, Xhuliana Kajana, Andrea Garbarino, Martina Bartolucci, Andrea Petretto , et al. · 2024

Pediatric pilocytic astrocytoma (PA) is the most common brain tumor in children. Complete resection provides a favorable prognosis, except for unresectable PA forms. There is an incomplete understanding of the molecular and cellular pathog…

Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series Open

Alberto Morello, Marcello Scala, Irene Schiavetti, Maria Cristina Diana, Mariasavina Severino , et al. · 2024

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review Open

Marco Pavanello, Liliana Piro, Arianna Roggero, Andrea Rossi, Matteo Cataldi , et al. · 2024

Introduction Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations.…

Surgical Revascularization as a Procedure to Prevent Neurological Complications in children with Moyamoya Syndrome Associated with Neurofibromatosis I: a Single Institution Case Series Open

Alberto Morello, Marcello Scala, Irene Schiavetti, Maria Cristina Diana, Mariasavina Severino , et al. · 2024

Background The optimal timing and surgical approach for surgical revascularization in patients with Moyamoya syndrome (MMS) associated with Neurofibromatosis type I (NF1) remains so far elusive. We aimed to compare the long-term clinical, …

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study Open

Xhuliana Kajana, Sonia Spinelli, Andrea Garbarino, Ganna Balagura, Martina Bartolucci , et al. · 2023

Cerebrospinal fluid (CSF) is a biochemical–clinical window into the brain. Unfortunately, its wide dynamic range, low protein concentration, and small sample quantity significantly limit the possibility of using it routinely. Extraventricu…

Intra-Operative Role of Ultrasonography in Planning Surgical Decompression for Chiari Malformation Type I in Pediatric Population: A Single-Center Experience Open

Maria Sole Venanzi, Marco Pavanello, Mattia Pacetti, Francesca Secci, Andrea Rossi , et al. · 2023

Introduction- Chiari malformation type 1 (CM-1) is defined by the caudal displacement of cerebellar tonsils through the foramen magnum (cut off of 5 mm from McRae line.) In Chiari malformation type 1.5 (CM-1.5) both cerebellar tonsils and…

A case report of hemorrhagic presentation of diffuse neonatal hemangiomatosis (DNH) associated to obstructive hydrocephalus: Medical and neurosurgical considerations Open

Marco Pavanello, Liliana Piro, Arianna Roggero, Andrea Rossi, Gianluca Piatelli , et al. · 2023

Letter to the Editor. Tonsillectomy in Chiari malformation type I: is it always the right choice? Open

Francesca Rizzo, Raffaele De Marco, Gianluca Piatelli, Marco Pavanello · 2023

Neurosurgical ForumTonsillectomy in Chiari malformation type I: is it always the right choice?FIG. 1. Preoperative MRI (A and D) with tonsillar ptosis extended up to C2 and no signs of syringomyelia.Postoperative MRI (B, C, E, and F) in bo…

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center Open

Silvia Buratti, Marisa Mallamaci, Giulia Tuo, Mariasavina Severino, Domenico Tortora , et al. · 2023

Background Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high outp…

Expanding the phenotype associated with biallelic SLC20A2 variants Open

Gianluca D’Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano , et al. · 2023

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 Open

Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia , et al. · 2023

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred t…

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? Open

Cristina Chelleri, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene , et al. · 2023

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by pathogenic variants in the NF1 gene, encoding a multidomain inhibitor of Ras activity. Thus, NF1 is considered a RASopathy and drugs targeting the RAS/mitogen-activated …

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus Open

Gelsomina Aruta, Pietro Fiaschi, Marco Ceraudo, Gianluca Piatelli, Valeria Capra , et al. · 2023

Introduction: The association between multisutural craniosynostosis with Chiari malformation (CM), venous hypertension, and hydrocephalus is widely described in the literature, especially in children with paediatric craniofacial syndromes.…

Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report Open

Gianluca Piccolo, Antonio Verrico, Giovanni Morana, Gianluca Piatelli, Patrizia De Marco , et al. · 2022

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study Open

Ana Filipa Geraldo, Cesar Alves, Aysha Luis, Domenico Tortora, Joana Guimarães , et al. · 2022

Letter to the Editor. Intrathecal baclofen pump insertion versus selective dorsal rhizotomy Open

Anna Ronchetti, Marta Bertamino, Chiara Tacchino, Paolo Moretti, Marco Pavanello · 2022

From Henry Shrapnel (1761–1842) to today’s neurosurgery: how antipersonnel weapons have laid the foundation of clinical and surgical management of head injury fractures and penetrating brain injuries Open

Maria Sole Venanzi, Gianluca Piatelli, Marco Pavanello · 2022

Henry Shrapnel invented an antipersonnel weapon capable of defragmenting with the explosion of charge. Modern grenades or improvised explosive devices may be seen as an evolution of Shrapnel’s ammunition. Starting by analyzing the ballisti…

Weighted Gene Co-Expression Network Analysis and Support Vector Machine Learning in the Proteomic Profiling of Cerebrospinal Fluid from Extraventricular Drainage in Child Medulloblastoma Open

Maurizio Bruschi, Xhuliana Kajana, Andrea Petretto, Martina Bartolucci, Marco Pavanello , et al. · 2022

Medulloblastoma (MB) is the most common pediatric malignant central nervous system tumor. Overall survival in MB depends on treatment tuning. There is aneed for biomarkers of residual disease and recurrence. We analyzed the proteome of was…

SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma Open

Gianluca Piatelli, Marco Pavanello, Gianluca Piccolo, Andrea Rossi, Maria Luisa Garrè , et al. · 2022

We report two cases of pediatric low-grade glioma (pLGG) treated with vemurafenib, an oral BRAF-inhibitor: a 12-year-old girl with involvement of basal ganglia, hypothalamus, and diencephalic junction; a 3-year-old boy, with an optic pathw…

Distribution of large carnivores in Europe 2012 - 2016: Distribution map for Golden Jackal (Canis aureus) Open

Nathan Ranc, Ilya Acosta-Pankov, Vaidas Balys, Jozef Bučko, Duško Ćirović , et al. · 2022

Abstract Regular assessments of species’ status are an essential component of conservation planning and adaptive management. They allow the progress of past or ongoing conservation actions to be evaluated and can be used t…

Distribution of large carnivores in Europe 2012 - 2016: Distribution map for Golden Jackal (Canis aureus) Open

Nathan Ranc, Ilya Acosta-Pankov, Vaidas Balys, Jozef Bučko, Duško Ćirović , et al. · 2022

Abstract Regular assessments of species’ status are an essential component of conservation planning and adaptive management. They allow the progress of past or ongoing conservation actions to be evaluated and can be used t…

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