Background: Although, substantial experimental evidence related to diagnosis and treatment of pediatric central nervous system (CNS) neoplasms have been demonstrated, the understanding of the etiology and pathogenesis of the disease remains scarce. Recent microRNA (miRNA)-based research reveals the involvement of miRNAs in various aspects of CNS development and proposes that they might compose key molecules underlying oncogenesis. The current study evaluated miRNA differential expression detected between pediatric embryonal brain tumors and normal controls to characterize candidate biomarkers related to diagnosis, prognosis and therapy.
Childhood pilocytic astrocytoma is the most frequent brain tumor affecting children. Proteomics analysis is currently considered a powerful tool for global evaluation of protein expression and has been widely applied in the field of cancer research. In the present study, a series of proteomics, genomics, and bioinformatics approaches were employed to identify, classify and characterize the proteome content of low-grade brain tumors as it appears in early childhood. Through bioinformatics database construction, protein profiles generated from pathological tissue samples were compared against profiles of normal brain tissues. Additionally, experiments of comparative genomic hybridization arrays were employed to monitor for genetic aberrations and sustain the interpretation and evaluation of the proteomic data. The current study confirms the dominance of MAPK pathway for the childhood pilocytic astrocytoma occurrence and novel findings regarding the ERK-2 expression are reported.
Head injury in children accounts for a large number of emergency department visits and hospital admissions. Falls are the most common type of injury, followed by motor-vehicle-related accidents. In the present study, we discuss the evaluation, neuroimaging and management of children with head trauma. Furthermore, we present the specific characteristics of each type of pediatric head injury.
Dandy-Walker malformation is a congenital disorder that involves the cerebellum and fourth ventricle. Regarding treatment, there is still controversy over the optimum surgical management. In the current study, we present 19 consecutive cases of Dandy-Walker malformation diagnosed between January 1992 and January 2008 that were treated in our institute. All patients presented with hydrocephalus at the time of diagnosis and were treated surgically. Combined drainage of the ventricular system and posterior fossa cyst, using a 3-way connector was performed in 5 patients. Posterior fossa cyst drainage alone was performed in 10 patients and the remaining 4 patients were treated by ventricular drainage alone. All patients improved after treatment. Dandy-Walker malformation is a developmental abnormality of the central nervous system associated with various brain and extracranial abnormalities. Surgical treatment remains controversial, whereas prognosis varies greatly according to the severity of syndrome and associated comorbidities.
Shunt placement is a safe and effective surgical treatment of symptomatic arachnoid cysts in children. Cyst reduction is greater in children younger than 2 years of age.
A term infant with Crouzon syndrome underwent a computed tomography (CT) study to rule out the presence of hydrocephalus. Computed tomography revealed hydrocephalus, a large cerebrospinal fluid cyst in the posterior fossa and hypoplastic cerebellar hemispheres with a winged appearance, consisting of Dandy-Walker malformation (Figure 1). The patient underwent a cystoperitoneal shunt insertion to alleviate pressure, and a craniofacial reconstructive procedure was performed at a later time.Crouzon syndrome is a genetic disorder characterized by cranial synostosis, exophthalmos, and midface hypoplasia. The birth prevalence has been calculated to be 16.5 cases per 1 000 000 live births and constitutes approximately 4.8% of all cases of craniosynostosis. 1 Patients with Crouzon syndrome often develop hydrocephalus that requires treatment. Dandy-Walker malformation is a congenital disorder that is characterized by cerebellar dysgenesis, cystic dilation of the fourth ventricle, and large posterior fossa with elevation of the dural sinuses and tentorium. 2 Although Dandy-Walker malformation is usually associated with several other disorders, to our best knowledge this is the first reported case of a patient with Crouzon syndrome. Physicians should be aware of this potential coexistence, given that both disorders have been associated with mental retardation and may act synergistically.
Low grade astrocytomas are the most common brain tumor in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene that result in mitogen activated protein kinase pathway activation. Herewith, we investigated the genetic changes of BRAF in pediatric low grade gliomas and their relation to pathological findings and Ki-67 proliferation index. The results showed gene fusions between KIAA1549 and BRAF in 66.7 % of tumors. The majority involved the KIAA1549-BRAF exon 16-exon 9 variant. Fusion junction between KIAA1549 exon 15 and BRAF exon 9 was found in five tumors, in which the myxoid component was the predominant. This has not been previously reported. No significant correlation was found between specific KIAA1549 and BRAF fusion junctions and Ki-67 index. All of the samples included in this study were tested for the presence of the BRAF(V600E) mutation, and no positive sample was found.
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