Dual origin of vertebral artery and intimal relationship with spontaneous artery dissection: a case report and systematic review.

Dual origin of the vertebral artery (VA) is an uncommon anatomical variation. We describe a case of duplication origin at right vertebral artery (RVA) found incidentally in one elderly patient on investigation for cerebral aneurysm. Angiogram study showed a pseudoaneurysm at V4 segment of the RVA associated with embryological anatomy. The authors performed a systematic review of the similar cases reported worldwide.

Meningiomas: An Overview of the Landscape of Copy Number Alterations in Samples from an Admixed Population.

Meningiomas are considered the most common intracranial tumors, affecting mainly women. Studies in mixed populations can be of great importance to clarify issues related to the genetic diversity of tumors and their development. Considering that data obtained from analyses of the profile of copy number alterations (CNA) have been a useful diagnostic indicator for many types of tumors and that meningiomas show a complex pattern of gains and losses in the number of copies, our objective was to analyze the CNA profile in 33 samples of meningiomas of different histological grades (WHO Grade I-III) from patients in a city located in the Amazon region of Brazil, using aCGH. We found that the female to male ratio was 3 : 1. The aCGH analysis revealed a total of 2304 CNA, with an average of 69.8 ± 57.4 per case, of which 1197 were gains (52%), 926 were losses (40.2%), 105 were amplifications (4. 5%), and 76 were deletions (3.3%). A significant relationship was observed between the type of CNA and the degree of the tumor (chi-square test: χ 2 = 65,844; p < 0.0001; contingency coefficient: C = 0.1772; p < 0.0001). Evaluating the recurrent changes in at least 50% of the samples, we observe as the most frequent losses of the segments 22q13.1-q13.2 (82%), 1p35.3 (76%), and 14q13.1-q13.2 (67%), involving all histopathological grades. The analysis of these regions showed the inclusion of genes with functions such as regulation, maintenance of cell survival, reorganization of the cytoskeleton, cell signaling, and DNA repair, among others. However, overall, the profiles observed in meningiomas of this admixed population were very similar to the ones observed in Caucasian groups. An interesting finding was a recurrent gain of 8p22 observed only in grade I meningiomas, a region which includes DLC1, a suppressor candidate gene probably implicated in the developments or progression of meningiomas, usually found deleted, when related to CNAs.

Expression Analysis of Genes Involved in the RB/E2F Pathway in Astrocytic Tumors.

Astrocytic gliomas, which are derived from glial cells, are considered the most common primary neoplasias of the central nervous system (CNS) and are histologically classified as low grade (I and II) or high grade (III and IV). Recent studies have shown that astrocytoma formation is the result of the deregulation of several pathways, including the RB/E2F pathway, which is commonly deregulated in various human cancers via genetic or epigenetic mechanisms. On the basis of the assumption that the study of the mechanisms controlling the INK4/ARF locus can help elucidate the molecular pathogenesis of astrocytic tumors, identify diagnostic and prognostic markers, and help select appropriate clinical treatments, the present study aimed to evaluate and compare methylation patterns using bisulfite sequencing PCR and evaluate the gene expression profile using real-time PCR in the genes CDKN2A, CDKN2B, CDC6, Bmi-1, CCND1, and RB1 in astrocytic tumors. Our results indicate that all the evaluated genes are not methylated independent of the tumor grade. However, the real-time PCR results indicate that these genes undergo progressive deregulation as a function of the tumor grade. In addition, the genes CDKN2A, CDKN2B, and RB1 were underexpressed, whereas CDC6, Bmi-1, and CCND1 were overexpressed; the increase in gene expression was significantly associated with decreased patient survival. Therefore, we propose that the evaluation of the expression levels of the genes involved in the RB/E2F pathway can be used in the monitoring of patients with astrocytomas in clinical practice and for the prognostic indication of disease progression.

Neurocutaneous melanosis: hydrocephalus and intracranialhypertension - rare case

Objective: report a case of neurocutaneousmelanosis in Belém, Pará. Case report: a 13-yearsoldboy, with history 8 months later presented paroxistic absence recurrent seizures controlledwith carbamazepine. At three years old, the seizures became generalized type, associated tonistagmus and incipient apendicular ataxia. Until 11 years old, he had neurologic exam stable,without diagnostic, when presented persistent holocranial headache, nausea, morning vomit,oftalmoparesis type III pair lesion on the right and somnolence. At general exam, it was founduncountable melanocytic nevi in his dorsum, buttocks, left arm, thorax and right shoulder. MRIstudy was performed and suggested CNS melanicytic infiltration. The patient underwentventriculoperitoneal derivation and presented good evaluation, asymptomatic.Conclusion: theearly diagnostic is very important, considering the possibility to precocious neurosurgicalintervention, allowing the increase of survival in these patients.

Objetivo: relatar um caso de melanoseneurocutanea em Belém, Pará. Relato de caso:adolescente, 13 anos de idade, gênero masculino, com história de crises convulsivasparoxísticas, tipo ausência, recorrentes, controladas com uso de carbamazepina. Aos três anosde idade, as crises tornaram-se do tipo generalizada, associada com nistagmo e ataxiaapendicular incipiente. Até 11 anos de idade, o paciente teve quadro neurológico estável, semdiagnóstico, quando apresentou cefaléia persistente holocraniana, náusea, vômitos pela manhã,sonolência e oftalmoparesia por lesão do III par craniano à direita. No exame geral, foramencontrados incontáveis nevos melanocíticos no dorso, nádegas, braço esquerdo, tórax e ombrodireito. A RNM sugeriu infiltração melanocítica do SNC. O paciente foi submetido a derivaçãoventrículo-peritoneal e apresentou boa evolução, ficando assintomático após o procedimento.Conclusão: o diagnóstico precoce é muito importante, considerando a possibilidade deintervenção neurocirúrgica precoce, permitindo o aumento da sobrevida nesses pacientes