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Neuro-Behçet’s Disease Mimicking Adult-Type Diffuse Glioma

Machado, Rita; Novo, Ana Margarida; Rebelo, Olinda; Batista, Sónia

Date: 2024   |   Origin: SINAPSE

DOK7-Associated Congenital Myasthenic Syndrome: A Differential Diagnosis of Cor...

Carvalho, Inês V.; Jorge, André; Rebelo, Olinda; Matos, Anabela

Date: 2024   |   Origin: SINAPSE

Epigenetic Analysis of Long-term Epilepsy-Associated Tumors by Methylation-Spec...

Jesus-Ribeiro, Joana; Ribeiro, Ilda Patrícia; Pires, Luis Miguel; Rebelo, Olinda; Pereira, Ricardo; Bento, Conceição; Sales, Francisco; Santana, Isabel

Introduction: Ganglioglioma and dysembryoplastic neuroepithelial tumor represent the most common neoplasms in the group of long-term epilepsy-associated tumors. Mapping of epigenetic alterations, particularly DNA methylation, has recently been shown to offer promising perspectives in brain tumors, identifying key genes that may serve as potential diagnostic biomarkers. We aim to perform a genetic and epigenetic...

Date: 2024   |   Origin: SINAPSE

Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...

Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina Maria Gonçalves; Robalo, Conceição; Rito, Manuel; Pereira, Ricardo

Introduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...


Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...

Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina; Robalo, Conceição; Rito, Manuel; Pereira, Ricardo; Costa, José Augusto

Introduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...

Date: 2022   |   Origin: Acta Médica Portuguesa

Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A S...

Jesus-Ribeiro, Joana; Pires, Luís Miguel; Melo, João Daniel; Ribeiro, Ilda Patrícia; Rebelo, Olinda; Sales, Francisco; Freire, António

Introduction: Focal cortical dysplasias (FCDs) are a group of malformations of cortical development that constitute a common cause of drug-resistant epilepsy, often subjected to neurosurgery, with a suboptimal long-term outcome. The past few years have witnessed a dramatic leap in our understanding of the molecular basis of FCD. This study aimed to provide an updated review on the genomic and epigenetic advance...


Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour ...

Wefers, Annika K.; Stichel, Damian; Schrimpf, Daniel; Coras, Roland; Pages, Mélanie; Tauziède-Espariat, Arnault; Varlet, Pascale; Schwarz, Daniel

The "isomorphic subtype of diffuse astrocytoma" was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltration. Patients typically had seizures since childhood and all were operated on as adults. To define the position of these lesions among brain tumours, we histologically, molecularly and clinically analysed ...


The long non-coding RNA HOTAIR is transcriptionally activated by HOXA9 and is a...

Xavier-Magalhães, Ana; Gonçalves, Céline S; Fogli, Anne; Lourenço, Tatiana; Pojo, Marta; Pereira, Bruno; Rocha, Miguel; Lopes, Maria Celeste

The lncRNA HOTAIR has been implicated in several human cancers. Here, we evaluated the molecular alterations and upstream regulatory mechanisms of HOTAIR in glioma, the most common primary brain tumors, and its clinical relevance. HOTAIR gene expression, methylation, copy-number and prognostic value were investigated in human gliomas integrating data from online datasets and our cohorts. High levels of HOTAIR w...


Prognostic stratification of adult primary glioblastoma multiforme patients bas...

González-Tablas, María; Crespo, Inês; Vital, Ana Luísa; Otero, Álvaro; Nieto, Ana Belén; Sousa, Pablo; Patino-Alonso, María Carmen

Several classification systems have been proposed to address genomic heterogeneity of glioblastoma multiforme, but they either showed limited prognostic value and/or are difficult to implement in routine diagnostics. Here we propose a prognostic stratification model for these primary tumors based on tumor gene amplification profiles, that might be easily implemented in routine diagnostics, and potentially impro...


The long non-coding RNA HOTAIR is transcriptionally activated by HOXA9 and is a...

Xavier-Magalhães, Ana; Gonçalves, Céline S; Fogli, Anne; Lourenço, Tatiana; Pojo, Marta; Pereira, Bruno; Rocha, Miguel; Celeste Lopes, Maria

The lncRNA HOTAIR has been implicated in several human cancers. Here, we evaluated the molecular alterations and upstream regulatory mechanisms of HOTAIR in glioma, the most common primary brain tumors, and its clinical relevance. HOTAIR gene expression, methylation, copy-number and prognostic value were investigated in human gliomas integrating data from online datasets and our cohorts. High levels of HOTAIR w...


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