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258 results on '"Machado, Helio"'

1. GABAergic and glutamatergic inputs to the medulla oblongata and locus coeruleus noradrenergic pathways are critical for seizures and postictal antinociception neuromodulation

Author

Mendonça-dos-Santos, Marcelo, Gonçalves, Thaís Cristina Teixeira, Falconi-Sobrinho, Luiz Luciano, dos Anjos-Garcia, Tayllon, Matias, Jr., Ivair, de Oliveira, Rithiele Cristina, dos Santos Sampaio, Maria de Fátima, dos Santos Cardoso, Fabrízio, dos Santos, Wagner Ferreira, Machado, Helio Rubens, and Coimbra, Norberto Cysne

Published
2024
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3. EEG-Based Epileptic Seizure Prediction Using Temporal Multi-Channel Transformers

Author

Godoy, Ricardo V., Reis, Tharik J. S., Polegato, Paulo H., Lahr, Gustavo J. G., Saute, Ricardo L., Nakano, Frederico N., Machado, Helio R., Sakamoto, Americo C., Becker, Marcelo, and Caurin, Glauco A. P.

Subjects
Electrical Engineering and Systems Science - Signal Processing, Computer Science - Artificial Intelligence, Computer Science - Machine Learning, Statistics - Machine Learning, 92C55 (Primary), I.5.4
Abstract

Epilepsy is one of the most common neurological diseases, characterized by transient and unprovoked events called epileptic seizures. Electroencephalogram (EEG) is an auxiliary method used to perform both the diagnosis and the monitoring of epilepsy. Given the unexpected nature of an epileptic seizure, its prediction would improve patient care, optimizing the quality of life and the treatment of epilepsy. Predicting an epileptic seizure implies the identification of two distinct states of EEG in a patient with epilepsy: the preictal and the interictal. In this paper, we developed two deep learning models called Temporal Multi-Channel Transformer (TMC-T) and Vision Transformer (TMC-ViT), adaptations of Transformer-based architectures for multi-channel temporal signals. Moreover, we accessed the impact of choosing different preictal duration, since its length is not a consensus among experts, and also evaluated how the sample size benefits each model. Our models are compared with fully connected, convolutional, and recurrent networks. The algorithms were patient-specific trained and evaluated on raw EEG signals from the CHB-MIT database. Experimental results and statistical validation demonstrated that our TMC-ViT model surpassed the CNN architecture, state-of-the-art in seizure prediction., Comment: 15 pages, 10 figures

Published
2022

4. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Author

Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H, Li, Zhen, Marsh, Ashley PL, Breuss, Martin W, Ball, Laurel L, Garcia, Camila Araújo Bernardino, George, Renee D, Gu, Jing, Xu, Mingchu, Barrows, Chelsea, James, Kiely N, Stanley, Valentina, Nidhiry, Anna S, Khoury, Sami, Howe, Gabrielle, Riley, Emily, Xu, Xin, Copeland, Brett, Wang, Yifan, Kim, Se Hoon, Kang, Hoon-Chul, Schulze-Bonhage, Andreas, Haas, Carola A, Urbach, Horst, Prinz, Marco, Limbrick, David D, Gurnett, Christina A, Smyth, Matthew D, Sattar, Shifteh, Nespeca, Mark, Gonda, David D, Imai, Katsumi, Takahashi, Yukitoshi, Chen, Hsin-Hung, Tsai, Jin-Wu, Conti, Valerio, Guerrini, Renzo, Devinsky, Orrin, Silva, Wilson A, Machado, Helio R, Mathern, Gary W, Abyzov, Alexej, Baldassari, Sara, Baulac, Stéphanie, and Gleeson, Joseph G

Subjects
Genetics, Pediatric, Neurodegenerative, Epilepsy, Neurosciences, Human Genome, Brain Disorders, Biotechnology, Clinical Research, Stem Cell Research, Congenital Structural Anomalies, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Multiomics, Brain, Mutation, Malformations of Cortical Development, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing. Genotype-phenotype correlation analysis elucidated specific MCD gene sets associated with distinct pathophysiological and clinical phenotypes. The unique single-cell level spatiotemporal expression patterns of mutated genes in control and patient brains indicate critical roles in excitatory neurogenic pools during brain development and in promoting neuronal hyperexcitability after birth.

Published
2023

5. Clinical and Surgical Approach for Cerebral Cortical Dysplasia

Author

Santos, Marcelo Volpon, Garcia, Camila Araujo Bernardino, Hamad, Ana Paula Andrade, Costa, Ursula Thome, Sakamoto, Americo Ceiki, dos Santos, Antonio Carlos, Machado, Helio Rubens, Di Rocco, Concezio, Series Editor, Arraez, Miguel A., Editorial Board Member, Boop, Frederick A., Editorial Board Member, Froelich, Sebastien, Editorial Board Member, Kato, Yoko, Editorial Board Member, Pang, Dachling, Editorial Board Member, and Tu, Yong-Kwang, Editorial Board Member

Published
2023
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10. Epigenetic Control of Adamantinomatous Craniopharyngiomas.

Author

Marrero-Gutiérrez, Junier, Bueno, Ana Carolina, Martins, Clarissa Silva, Coeli-Lacchini, Fernanda Borchers, Silva-Júnior, Rui M Patrício, Gonçalves, Gabriel Henrique Marques, Ozaki, Jorge Guilherme Okanobo, Silva, Danillo C de Almeida e, Wildemberg, Luiz Eduardo, Antunes, Ximene Lima da Silva, Santos, Antônio Carlos dos, Machado, Helio Rubens, Santos, Marcelo Volpon, Moreira, Ayrton Custodio, Gadelha, Monica R, Vêncio, Ricardo Zorzetto Nicoliello, Antonini, Sonir Roberto R, and Castro, Margaret de

Subjects
STATISTICAL bootstrapping, DNA methylation, CELL differentiation, MULTIDIMENSIONAL scaling, HIERARCHICAL clustering (Cluster analysis), CELL adhesion, CYTOKINE receptors
Abstract

Introduction Studies addressing the methylation pattern in adamantinomatous craniopharyngioma (ACP) are lacking. Objective To identify methylation signatures in ACPs regarding clinical presentation and outcome. Methods Clinical and pathology data were collected from 35 patients with ACP (54% male; 18.1 years [2-68]). CTNNB1 mutations and methylation profile (MethylationEPIC/Array-Illumina) were analyzed in tumoral DNA. Unsupervised machine learning analysis of this comprehensive methylome sample was achieved using hierarchical clustering and multidimensional scaling. Statistical associations between clusters and clinical features were achieved using the Fisher test and global biological process interpretations were aided by Gene Ontology enrichment analyses. Results Two clusters were revealed consistently by all unsupervised methods (ACP-1: n = 18; ACP-2: n = 17) with strong bootstrap statistical support. ACP-2 was enriched by CTNNB1 mutations (100% vs 56%, P =.0006), hypomethylated in CpG island, non-CpG Island sites, and globally (P <.001), and associated with greater tumor size (24.1 vs 9.5 cm3, P =.04). Enrichment analysis highlighted pathways on signaling transduction, transmembrane receptor, development of anatomical structures, cell adhesion, cytoskeleton organization, and cytokine binding, and cell type-specific biological processes as regulation of oligodendrocytes, keratinocyte, and epithelial cells differentiation. Conclusion Two clusters of patients with ACP were consistently revealed by unsupervised machine learning methods, with one of them significantly hypomethylated, enriched by CTNNB1 mutated ACPs, and associated with increased tumor size. Enrichment analysis reinforced pathways involved in tumor proliferation and in cell-specific tumoral microenvironment. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Cortical Dysplasia

Author

Machado, Helio Rubens, Santos, Marcelo Volpon, Di Rocco, Concezio, Section editor, Tamburrini, Gianpiero, Section editor, Di Rocco, Concezio, editor, Pang, Dachling, editor, and Rutka, James T., editor

Published
2020
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14. Aerobic exercise in adolescence results in an increase of neuronal and non-neuronal cells and in mTOR overexpression in the cerebral cortex of rats

Author

Victorino, Angélica Begatti, Serra, Fernando Tadeu, Piñero, Pâmella Pimentel, de Almeida, Alexandre Aparecido, Lopim, Glauber Menezes, Matias, Ivair, Machado, Helio Rubens, Lent, Roberto, Cabral, Francisco Romero, Gomez-Pinilla, Fernando, Arida, Ricardo Mario, and da Silva, Sérgio Gomes

Subjects
Biological Psychology, Psychology, Prevention, Mental Health, Basic Behavioral and Social Science, Brain Disorders, Neurosciences, Pediatric, Behavioral and Social Science, Neurological, Aging, Animals, Cerebral Cortex, Hippocampus, Male, Memory, Neuronal Plasticity, Neurons, Physical Conditioning, Animal, Rats, Wistar, Signal Transduction, TOR Serine-Threonine Kinases, physical exercise, adolescent, brain, cerebral cortex, hippocampus, mTOR, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Better cognitive performance and greater cortical and hippocampal volume have been observed in individuals who undertook aerobic exercise during childhood and adolescence. One possible explanation for these beneficial effects is that juvenile physical exercise enables better neural development and hence more cells and neuronal circuitries. It is probable that such effects occur through intracellular signaling proteins associated with cell growth, proliferation and survival. Based on this information, we evaluated the number of neuronal and non-neuronal cells using isotropic fractionation and the expression and activation of intracellular proteins (ERK, CREB, Akt, mTOR and p70S6K) in the cerebral cortex and hippocampal formation of the rats submitted to a physical exercise program on a treadmill during adolescence. Results showed that physical exercise increases the number of neuronal and non-neuronal cortical cells and hippocampal neuronal cells in adolescent rats. Moreover, mTOR overexpression was found in the cortical region of exercised adolescent rats. These findings indicate a significant cellular proliferative effect of aerobic exercise on the cerebral cortex in postnatal development.

Published
2017

17. The N-Vortex Problem on a Symmetric Ellipsoid: A Perturbation Approach

Author

Castilho, Cesar and Machado, Helio

Subjects
Mathematics - Dynamical Systems, 76C05, 58F40, 70H05.
Abstract

We consider the N-vortex problem on a ellipsoid of revolution. Applying standard techniques of classical perturbation theory we construct a sequence of conformal transformations from the ellipsoid into the complex plane. Using these transformations the equations of motion for the N-vortex problem on the ellipsoid are written as a formal series on the eccentricity of the ellipsoid's generating ellipse. First order equations are obtained explicitly. We show numerically that the truncated first order system for the three-vortices system on the symmetric ellipsoid is non-integrable., Comment: 14 pages, 1 figure

Published
2007
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20. Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Author

Valera, Elvis Terci, McConechy, Melissa K., Gayden, Tenzin, Rivera, Barbara, Jones, David T. W., Wittmann, Andrea, Han, HyeRim, Bareke, Eric, Nikbakht, Hamid, Mikael, Leonie, Queiroz, Rosane Gomes, Suazo, Veridiana Kiill, Phi, Ji Hoon, Kim, Seung-Ki, Park, Sung-Hye, Fukaya, Raita, Yum, Mi-Sun, Ko, Tae-Sung, de Oliveira, Ricardo Santos, Machado, Helio Rubens, Brassesco, María Sol, do Santos, Antonio Carlos, Simão, Gustavo Novelino, Ramalho, Leandra Náira Zambelli, Neder, Luciano, Scrideli, Carlos Alberto, Tone, Luiz Gonzaga, Majewski, Jacek, and Jabado, Nada

Published
2018
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21. Surgical results of selective dorsal rhizotomy for the treatment of spastic cerebral palsy

Author

Santos, Marcelo Volpon, Carneiro, Vinicius, Oliveira, Patricia, Caldas, Carla, and Machado, Helio

Subjects
Cerebral palsy -- Care and treatment, Paralysis -- Care and treatment, Medical records, Biperiden, Health
Abstract

Byline: Marcelo. Volpon Santos, Vinicius. Carneiro, Patricia. Oliveira, Carla. Caldas, Helio. Machado Background: Selective dorsal rhizotomy (SDR) is one of the surgical alternatives for treating spasticity, especially in children with [...]

Published
2021

22. Cerebral vasospasm following subarachnoid hemorrhage: a rare complication after transsphenoidal surgery for pituitary macroadenoma

Author

Elias, Paula Condé Lamparelli, primary, Volpon, Marcelo, additional, Azevedo, Giovana de Gobbi, additional, Machado, Helio, additional, Gonçalves, Gabriel Henrique Marques, additional, Carlos Santos, Antonio, additional, Mermejo, Livia M, additional, de Castro, Margaret, additional, and Moreira, Ayrton C, additional

Published
2023
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23. Systematic review of the efficacy in seizure control and safety of neuronavigation in epilepsy surgery: The need for well-designed prospective studies

Author

Sonvenso, Daniele Kanashiro, Itikawa, Emerson Nobuyuki, Santos, Marcelo Volpon, Santos, Leonardo Alexandre, Trevisan, Ana Carolina, Bianchin, Marino Muxfeldt, Pitella, Felipe Arriva, Kato, Mery, Carlotti, Carlos Gilberto, Jr., Busatto, Geraldo Filho, Velasco, Tonicarlo Rodrigues, Santos, Antonio Carlos, Leite, João Pereira, Sakamoto, Américo Ceiki, Machado, Hélio Rubens, Nunes, Altacílio Aparecido, and Wichert-Ana, Lauro

Published
2015
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24. ODP354 Telomeres Length and Wnt/beta-catenin Pathway in Adamantinomatous Craniopharyngiomas

Author

Ítalo S. Mota, José, primary, Silva-Júnior, Rui M Patrício, additional, Martins, Clarissa Silva, additional, Bueno, Ana Carolina, additional, Eduardo Wildemberg, Luiz Eduardo Luiz, additional, da Silva Antunes, Ximene L, additional, Okanobo Ozaki, Jorge G, additional, Coeli-Lacchin, Fernanda B, additional, Garcia-Peral, Carlos, additional, Oliveira, Antonio Edson R, additional, dos Santos, Antonio Carlos, additional, Moreira, Ayrton C, additional, Machado, Helio Rubens, additional, dos Santos, Marcelo V, additional, Colli, Leandro M, additional, Gadelha, Mônica R, additional, Antonini, Sonir R, additional, and de Castro, Margaret, additional

Published
2022
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25. Neurenteric Cysts

Author

Oliveira, Ricardo Santos de, Cinalli, Giuseppe, Sainte-Rose, Christian, Machado, Helio Rubens, Zerah, Michel, Memet Özek, M., Cinalli, Giuseppe, and Maixner, Wirginia J.

Published
2008
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29. Telomere length and Wnt/β-catenin pathway in adamantinomatous craniopharyngiomas

Author

Mota, Jose Italo Soares, primary, Silva-Júnior, Rui Milton Patrício, additional, Martins, Clarissa Silva, additional, Bueno, Ana Carolina, additional, Wildemberg, Luiz Eduardo, additional, Antunes, Ximene Lima da Silva, additional, Ozaki, Jorge Guilherme Okanobo, additional, Coeli-Lacchini, Fernanda Borchers, additional, Garcia-Peral, Carlos, additional, Oliveira, Antonio Edson Rocha, additional, Santos, Antônio Carlos, additional, Moreira, Ayrton Custodio, additional, Machado, Helio Rubens, additional, dos Santos, Marcelo Volpon, additional, Colli, Leandro M, additional, Gadelha, Monica R, additional, Antonini, Sonir Roberto R, additional, and de Castro, Margaret, additional

Published
2022
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34. The primary motor cortex electrical and chemical stimulation attenuates the chronic neuropathic pain by activation of the periaqueductal grey matter: The role of NMDA receptors

Author

Negrini-Ferrari, Sylmara Esther, primary, Medeiros, Priscila, additional, Malvestio, Rafael Braghetto, additional, de Oliveira Silva, Mariana, additional, Medeiros, Ana Carolina, additional, Coimbra, Norberto Cysne, additional, Machado, Helio Rubens, additional, and de Freitas, Renato Leonardo, additional

Published
2021
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39. Rasmussen encephalitis: long-term outcome after surgery

Author

Terra-Bustamante, Vera C., Machado, Helio R., dos Santos Oliveira, Ricardo, Serafini, Luciano N., Souza-Oliveira, Cecília, Escorsi-Rosset, Sara, Yacubian, Elza Márcia Targas, Naffah-Mazzacoratti, Maria da Graça, Scorza, Carla A., Cavalheiro, Esper A., Scorza, Fulvio A., and Sakamoto, Américo C.

Published
2009
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40. Telomere length and Wnt/β-catenin pathway in adamantinomatous craniopharyngiomas.

Author

Soares Mota, Jose Italo, Patrício Silva-Júnior, Rui Milton, Silva Martins, Clarissa, Bueno, Ana Carolina, Wildemberg, Luiz Eduardo, da Silva Antunes, Ximene Lima, Ozaki, Jorge Guilherme Okanobo, Coeli-Lacchini, Fernanda Borchers, Garcia-Peral, Carlos, Rocha Oliveira, Antonio Edson, Carlos Santos, Antônio, Custodio Moreira, Ayrton, Machado, Helio Rubens, Volpon dos Santos, Marcelo, Colli, Leandro M., Gadelha, Monica R., Antonini, Sonir Roberto R., and de Castro, Margaret

Subjects
TELOMERES, RNA analysis, CRANIOPHARYNGIOMA, DNA analysis, SOMATIC mutation, DISEASE progression
Abstract

Objectives: To evaluate how telomere length behaves in adamantinomtous craniopharyngioma (aCP) and if it contributes to the pathogenesis of aCPs with and without CTNNB1 mutations. Design: Retrospective cross-sectional study enrolling 42 aCP patients from 2 tertiary institutions. Methods: Clinicopathological features were retrieved from the patient's charts. Fresh frozen tumors were used for RNA and DNA analyses. Telomere length was evaluated by qPCR (T/S ratio). Somatic mutations in TERT promoter (TERTp) and CTNNB1 were detected by Sanger and/or whole-exome sequencing. We performed RNA-Seq to identify differentially expressed genes in aCPs presenting with shorter or longer telomere lengths. Results: Mutations in CTNNB1 were detected in 29 (69%) tumors. There was higher frequency of CTNNB1 mutations in aCPs from patients diagnosed under the age of 15 years (85% vs 15%; P = 0.04) and a trend to recurrent disease (76% vs 24%; P = 0.1). No mutation was detected in the TERTp region. The telomeres were shorter in CTNNB1-mutated aCPs (0.441, IQR: 0.297-0.597 vs 0.607, IQR: 0.445-0.778; P = 0.04), but it was neither associated with clinicopathological features nor with recurrence. RNAseq identified a total of 387 differentially expressed genes, generating two clusters, being one enriched for short telomeres and CTNNB1-mutated aCPs. Conclusions: CTNNB1 mutations are more frequent in children and adolescents and appear to associate with progressive disease. CTNNB1-mutated aCPs have shorter telomeres, demonstrating a relationship between the Wnt/β-catenin pathway and telomere biology in the pathogenesis of aCPs. [ABSTRACT FROM AUTHOR]

Published
2022
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