scholarly journals Circulating MicroRNAs from Serum Exosomes May Serve as a Putative Biomarker in the Diagnosis and Treatment of Patients with Focal Cortical Dysplasia

Cells ◽  
2020 ◽  
Vol 9 (8) ◽  
pp. 1867
Author(s):  
Shang-Der Chen ◽  
Hsiu-Yung Pan ◽  
Jyun-Bin Huang ◽  
Xuan-Ping Liu ◽  
Jie-Hau Li ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Cortical Neurons ◽  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Expression Profiles ◽  
Cortical Dysplasia ◽  
Sequencing Analysis ◽  
Circulating Mirnas ◽  
Potential Biomarker ◽  
Serum Exosomes

Focal cortical dysplasia (FCD) is a congenital malformation of cortical development where the cortical neurons located in the brain area fail to migrate in the proper formation. Epilepsy, particularly medically refractory epilepsy, is the most common clinical presentation for all types of FCD. This study aimed to explore the expression change of circulating miRNAs in patients with FCD from serum exosomes. A total of nine patients with FCD and four healthy volunteers were enrolled in this study. The serum exosomes were isolated from the peripheral blood of the subjects. Transmission electron microscopy (TEM) was used to identify the exosomes. Both exosomal markers and neuronal markers were detected by Western blotting analysis to prove that we could obtain central nervous system-derived exosomes from the circulation. The expression profiles of circulating exosomal miRNAs were assessed using next-generation sequencing analysis (NGS). We obtained a total of 107 miRNAs with dominant fold change (>2-fold) from both the annotated 5p-arm and 3p-arm of 2780 mature miRNAs. Based on the integrated platform of HMDD v3.2, miRway DB and DIANA-miRPath v3.0 online tools, and confirmed by MiRBase analysis, four potentially predicted miRNAs from serum exosomes in patients with FCD were identified, including miR194-2-5p, miR15a-5p, miR-132-3p, and miR-145-5p. All four miRNAs presented upregulated expression in patients with FCD compared with controls. Through Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis and pathway category of four target miRNAs, we found eight possible signaling pathways that may be related to FCD. Among them, we suggest that the mTOR signaling pathway, PI3K-Akt signaling pathway, p53 signaling pathway, and cell cycle regulation and TGF-beta signaling pathway are high-risk pathways that play a crucial role in the pathogenesis of FCD and refractory epilepsy. Our results suggest that the circulating miRNAs from exosomes may provide a potential biomarker for diagnostic, prognostic, and therapeutic adjuncts in patients with FCD and refractory epilepsy.

Serum MicroRNA-4521 is a Potential Biomarker for Focal Cortical Dysplasia with Refractory Epilepsy

2015 ◽  
Vol 41 (4) ◽  
pp. 905-912 ◽  
Author(s):  
Xiaofeng Wang ◽  
Yuqiang Sun ◽  
Zeshi Tan ◽  
Ningwei Che ◽  
Anlong Ji ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Serum Microrna ◽  
Potential Biomarker

Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy

2020 ◽  
Vol 42 (5-6) ◽  
pp. 230-236
Author(s):  
Felipe I. Chodraui ◽  
Camila Araújo B. Garcia ◽  
Niele D. Mendes ◽  
Marcelo V. Santos ◽  
Pâmela S. Beggiora ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Clinical Aspects ◽  
Control Group ◽  
Type I ◽  
Phosphorylated Protein ◽  
Downstream Target ◽  
Molecular Features ◽  
Brain Anomalies ◽  
Potential Biomarker

The tuberous sclerosis complex (TSC), focal cortical dysplasia IIB (FCD IIB), and hemimegalencephaly (HME) exhibit similar molecular features that are dependent on the hyperactivation of the mTOR pathway. They are all associated with refractory epilepsy and the need for surgical resection with varying outcomes. The phosphorylated protein S6 (pS6) is a downstream target of mTOR, whose increased expression might indicate mTOR hyperactivation, but which is also present when there is no alteration in the pathway (such as in FCD type I). We have performed immunohistochemical marking and quantification of pS6 in resected brain specimens of 26 patients clinically and histologically diagnosed with TSC, FCD IIB, or HME and compared this data to a control group of 25 patients, to measure the extent of pS6 positivity and its correlation with clinical aspects. Our results suggest that pS6 may serve as a reliable biomarker in epilepsy and that a greater percentage of pS6 marking can relate to more severe forms of mTOR-dependent brain anomalies.

Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature

2020 ◽  
Vol 36 (7) ◽  
pp. 1557-1561 ◽  
Author(s):  
Lídia Nunes Dias ◽  
Santiago Candela-Cantó ◽  
Cristina Jou ◽  
Javier Aparicio Calvo ◽  
Sergio García-García ◽  
...  
Keyword(s):  
Case Report ◽  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Review Of Literature ◽  
Neuronal Tumor

Enhanced MR conspicuity of Type IIb focal cortical dysplasia by T1WI with CHESS: Two case reports

2020 ◽  
pp. 10.1212/CPJ.0000000000000987
Author(s):  
Midori Kusama ◽  
Noriko Sato ◽  
Zen-ichi Tanei ◽  
Yukio Kimura ◽  
Masaki Iwasaki ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Chemical Shift ◽  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Case Reports ◽  
Cortical Dysplasia ◽  
Fat Suppression ◽  
Developmental Anomaly ◽  
Mri Findings ◽  
Mr Sequences

Focal cortical dysplasia (FCD) is a congenital developmental anomaly that is one of the leading causes of refractory epilepsy. MRI is an essential examination and T1WI, T2WI, and FLAIR images are commonly used MR sequences for delineating FCD.1 However, these MRI findings are often insufficiently clear. We experienced two FCD cases that were much better visualized by using T1WI with chemical shift selective (CHESS) than with T2WI and FLAIR images. CHESS is the most frequently used fat suppression pulse in clinical practice. We report two cases in which CHESS clearly demonstrated FCD, and compare the cases' pathology and MRI findings.

scholarly journals Induced pluripotent stem cells from patients with focal cortical dysplasia and refractory epilepsy

2017 ◽  
Vol 15 (4) ◽  
pp. 2049-2056 ◽  
Author(s):  
Daniel Rodrigo Marinowic ◽  
Fernanda Majolo ◽  
Alessandra Deise Sebben ◽  
Vinicius Duval Da Silva ◽  
Tiago Giuliani Lopes ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Induced Pluripotent

Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB

2015 ◽  
Vol 31 (5) ◽  
pp. 613-620 ◽  
Author(s):  
Lin Li ◽  
Chang-Qing Liu ◽  
Tian-Fu Li ◽  
Yu-Guang Guan ◽  
Jian Zhou ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Expression Profiles ◽  
Cortical Dysplasia ◽  
Micro Rna ◽  
Rna Expression

scholarly journals On The Use of Machine Learning Algorithms to Classify Focal Cortical Dysplasia on MRI

2021 ◽  
Author(s):  
João Guilherme Pereira ◽  
Matheus de Freitas Oliveira Baffa ◽  
Fabrício Henrique Simozo ◽  
Luiz Otavio Murta Junior ◽  
Joaquim Cezar Felipe
Keyword(s):  
Deep Neural Network ◽  
Surgical Intervention ◽  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Machine Learning Algorithms ◽  
Textural Features ◽  
Epileptogenic Zone ◽  
Neural Network Classifier ◽  
Multiple Classifiers

Refractory epilepsy is a condition characterized by epileptic seizure occurrence which cannot be controlled with antiepileptic drugs. This condition is associated with an excessive neuronal discharge produced by a group of neurons in a certain epileptogenic zone. Focal Cortical Dysplasia (FCD), usually found in these zones, was detected as one of the main causes of refractory epilepsy. In these cases, surgical intervention is necessary to minimize or eliminate the seizure occurrences. However, surgical treatment is only indicated in cases where there is complete certainty of the FCD. In order to assist neurosurgeons to detect precisely these regions, this paper aims to develop a classification method to detect FCD on MRI based on morphological and textural features from a voxel-level perspective. Multiple classifiers were tested throughout the extracted features, the best results achieved an accuracy of 91.76% using a Deep Neural Network classifier and 96.15% with J48 Decision Tree. The set of evaluating metrics showed that the results are promising.

scholarly journals Focal Cortical Dysplasia and Refractory Epilepsy: Role of Multimodality Imaging and Outcome of Surgery

2019 ◽  
Vol 40 (5) ◽  
pp. 892-898 ◽  
Author(s):  
S. Jayalakshmi ◽  
S.K. Nanda ◽  
S. Vooturi ◽  
R. Vadapalli ◽  
P. Sudhakar ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Multimodality Imaging ◽  
Cortical Dysplasia ◽  
Outcome Of Surgery
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