Central nervous system high-grade neuroepithelial tumor with BCOR alteration: case report

Central nervous system high-grade neuroepithelial tumors with BCOR alteration are a rare disease. Currently, there are only 24 cases reported in the literature. They are characterized by a change involving the BCOR gene and have a poor prognosis. Studies are needed to improve the current therapy and outcomes of these neoplasms. This case report describes the clinical history of a patient with this pathology and aims to contribute to the current knowledge about this new entity

Endarterectomia versus angioplastia carot?dea com stent : an?lise neurofuncional e neuropsicol?gica

Submitted by Setor de Tratamento da Informa??o - BC/PUCRS ([email protected]) on 2017-03-09T14:14:11Z No. of bitstreams: 1 TES_MARCELO_UGHINI_CRUSIUS_PARCIAL.pdf: 2569330 bytes, checksum: eb16efc2beeecee13cf90015f15383d2 (MD5)Made available in DSpace on 2017-03-09T14:14:11Z (GMT). No. of bitstreams: 1 TES_MARCELO_UGHINI_CRUSIUS_PARCIAL.pdf: 2569330 bytes, checksum: eb16efc2beeecee13cf90015f15383d2 (MD5) Previous issue date: 2016-10-24Background: Carotid disease has a high prevalence as a cause of ischemic stroke. The decision between the types of treatment for carotid stenosis has been the subject of discussion on what is most benefit for patients. The procedures performed to treat this disease are Carotid Endarterectomy (CEA) and Carotid Artery Stenting (CAS). Basically, in the literature, these two methods are almost equivalent procedures on the benefit caused for the patients analyzed in many ways, including the efficacy of revascularization, the complications of the procedures and the prevention of stroke. However, up to date, no research presented the analysis of functional brain connectivity networks with functional resting state MRI (rs-MRI) in patients that performed a CEA or CAS. We conducted neuropsychological tests to relate them with data from neuroimaging. This research aims to contribute in a pioneering way for knowledge in this field. Aims: Evaluate which type of procedure can bring more benefit to the patients with carotid artery disease in neuropsychological and functional brain connectivity. Method: Open randomized clinical trial with partial blinding; involving 33 subjects with cervical carotid artery stenosis with treatment indication and acceptable to both methods (CEA or CAS). At this time, the randomization was employed to patients who were dichotomized with the application of neuropsychological tests and clinical neurological examination. Group 1 represented the patients who underwent CEA with regional anesthesia loco (n = 18) and Group 2 patients underwent CAS (n = 15). Before the procedure all patients underwent rs-MRI and 4 to 8 weeks after the procedure, and were submitted again to an rs-MRI and also to a carotid ECO Doppler. The new assessment with neuropsychological tests and neurological clinical examination was performed three months after the procedure. Statistical analysis was performed using Student's t-test and analysis of variance (ANOVA). The results were considered significant when p ? 0.05. Results: Among the neuropsychological results, the CEA group in Boston naming test scores obtained 12.13 / 15 (?3.09) before procedure versus 13.44 / 15 (?1.63) in the post op, with p = 0.03. Visual memories (mv) tests 1 and 2 after the procedure, compared between groups showed higher values for the angioplasty group, with values of p = 0.02 for mv 1 and p = 0.007 for mv 2. Neuroimaging results showed, when the rs-RMI was analyzed with Regional Homogeneity (ReHo), three clusters in the Default Mode Network (DMN) in the CAS group; demonstrating an increase in functional connectivity post procedure. With the implementation of Independent Component Analysis (ICA) at rs-MRI, found in right frontal parietal (RFP) network 4 clusters an increased in connectivity in the post procedure for Group 2. Conclusion: There was improvement with statistical difference in two networks after angioplasty and worsening functional connectivity in these same networks with no statistical difference in the endarterectomy group postoperatively. Within the endarterectomy group had improved after the procedure in the Boston Naming Test.Introdu??o: A doen?a carot?dea possui alta preval?ncia como causa de acidente vascular isqu?mico (AVCi). A decis?o entre os tipos de tratamento para a estenose carot?dea tem sido alvo de discuss?o, visando aos benef?cios trazidos aos pacientes. Os procedimentos realizados para tratar essa doen?a s?o a endarterectomia (CEA, do ingl?s carotid endarterectomy) e a angioplastia com implante de stent (CAS, do ingl?s carotid artery stenting). Na literatura, esses dois procedimentos praticamente equivalem-se quanto ao benef?cio aos pacientes sob v?rios aspectos, incluindo a efic?cia da revasculariza??o, as complica??es dos procedimentos e a preven??o do AVCi. O presente estudo original mostra uma an?lise da conectividade funcional cerebral com resson?ncia funcional em estado de repouso (rs-MRI, do ingl?s resting state MRI) em pacientes que realizaram a CEA e a CAS. Foram realizados, ainda, testes neuropsicol?gicos para compreens?o e rela??o com os dados da neuroimagem. Este estudo visa contribuir de forma pioneira para a busca de conhecimentos nesse aspecto. Objetivo: Avaliar qual tipo de procedimento (CEA ou CAS) pode trazer mais benef?cio ao paciente com doen?a carot?dea sob os pontos de vista neuropsicol?gico e da conectividade funcional cerebral. M?todo: Ensaio cl?nico aberto randomizado com cegamento parcial, envolvendo 33 pacientes possuidores de estenose de art?ria car?tida cervical com indica??o de tratamento admiss?vel aos dois m?todos (CEA ou CAS). Antes da realiza??o dos exames, a randomiza??o foi empregada aos pacientes, que foram dicotomizados com a aplica??o de testes neuropsicol?gicos e exame cl?nico neurol?gico. O Grupo 1 representou os pacientes que foram submetidos ? CEA com anestesia locorregional (n=18) e o Grupo 2, os pacientes submetidos ? CAS (n=15). Antes do procedimento, todos os pacientes foram submetidos ? rs-MRI e, quatro a oito semanas ap?s o procedimento, foram submetidos novamente a um exame de rs-MRI e, tamb?m, a um ECO doppler carot?deo. A nova avalia??o com testes neuropsicol?gicos e exame cl?nico neurol?gico foi realizada tr?s meses ap?s o procedimento. A an?lise estat?stica foi realizada com o teste t de Student e a an?lise de vari?ncia (ANOVA). Os resultados foram considerados significativos quando p? 0,05. Resultados: Dentre os resultados neuropsicol?gicos, o grupo da CEA, no teste de nomea??o de Boston, obteve escores de 12,13/15 (?3,09) no pr?-procedimento versus 13,44/15 (?1,63) no p?s, com signific?ncia p=0,03. Os testes de mem?rias visuais (mv) 1 e 2 ap?s o procedimento, quando comparados entre os grupos, obtiveram valores maiores para o grupo da angioplastia, com valores de signific?ncia de p=0,02 para mv 1 e de p=0,007 para mv 2. Nos resultados de neuroimagem, quando a rs-RMI foi analisada com ReHo (do ingl?s regional homogeneity), encontraram-se tr?s clusters na rede DMN (do ingl?s default mode network) no grupo CAS, demonstrando aumento de conectividade funcional no p?s-procedimento em rela??o ao pr?-procedimento. Com a aplica??o do ICA (do ingl?s independent component analysis) na rs-MRI, encontraram-se, na rede FPD (frontoparietal direita), quatro clusters, mostrando um aumento do valor na conectividade no p?s-procedimento para o Grupo 2. Conclus?o: Houve um aumento de conectividade, com diferen?a estat?stica, em duas redes (DMN e PDF) de conectividade funcional p?s-angioplastia e redu??o nessas mesmas redes, sem diferen?a estat?stica para o grupo da endarterectomia no p?s-operat?rio. Dentro do grupo da endarterectomia, houve melhora ap?s o procedimento no teste de nomea??o de Boston

Endovascular treatment of a basilar artery dissecting aneurysm Fasciculações benignas responsivas à gabapentina

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.Fasciculações são sintomas presentes em um amplo espectro de condições, desde manifestações normais até doenças do neurônio motor. Elas representam também o principal aspecto da síndrome de fasciculações benignas. Relatamos um caso desta síndrome: uma paciente de 48 anos com queixas de fasciculações por três décadas que, mesmo após a compensação de um quadro de hipertireoidismo, permaneceu com os sintomas. A introdução de gabapentina levou a controle das fasciculações. Os dados disponíveis na literatura sobre as abordagens terapêuticas para fasciculações são revisados, assim como os raros relatos de evolução de pacientes com fasciculações "benignas" para casos de esclerose lateral amiotrófica, salientando a importância do seguimento dos pacientes com fasciculações

Central nervous system high-grade neuroepithelial tumor with BCOR alteration: case report

Central nervous system high-grade neuroepithelial tumors with BCOR alteration are a rare disease. Currently, there are only 24 cases reported in the literature. They are characterized by a change involving the BCOR gene and have a poor prognosis. Studies are needed to improve the current therapy and outcomes of these neoplasms. This case report describes the clinical history of a patient with this pathology and aims to contribute to the current knowledge about this new entity