Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing
Molecular Case Studies
Choroid plexus tumors (CPTs) are rare intracranial neoplasms, representing <1% of all brain tu... more Choroid plexus tumors (CPTs) are rare intracranial neoplasms, representing <1% of all brain tumors, yet they represent 20% of first-year pediatric brain tumors. Although these tumors have been linked toTP53germline mutations in the context of Li–Fraumeni syndrome, their somatic driver alterations remain poorly understood. In this study, we report two cases of lateral ventricle tumors: 3-yr-old male diagnosed with an atypical choroid plexus papilloma (aCPP), and a 6-mo-old female diagnosed with a choroid plexus carcinoma (CPC). We performed whole-exome sequencing of paired blood and tumor tissue in both patients, categorized somatic variants, and determined copy-number alterations. Our analysis revealed a tier II variant (Association for Molecular Pathology [AMP] criteria) inBRD1,aH3andTP53acetylation agent, in the aCPP. In addition, we detected copy-number gains on Chromosomes 12, 18, and 20 and copy-number losses on Chromosomes 13q and 22q (BRD1locus) in this tumor. The CPC tumo...
Este é um artigo publicado em acesso aberto (Open Access) sob a licença Creative Commons Attribut... more Este é um artigo publicado em acesso aberto (Open Access) sob a licença Creative Commons Attribution, que permite uso, distribuição e reprodução em qualquer meio, sem restrições desde que o trabalho original seja corretamente citado.
O presente estudo tem como objetivo investigar o conceito de percepcao na filosofia e nas neuroci... more O presente estudo tem como objetivo investigar o conceito de percepcao na filosofia e nas neurociencias. Duas grandes concepcoes sobre a sensacao e a percepcao fazem parte da tradicao filosofica: o empirismo e o racionalismo. No seculo XX, contudo, a filosofia alterou bastante essas duas tradicoes atraves de uma nova concepcao do conhecimento sensivel. As mudancas foram trazidas pela fenomenologia e pela psicologia da forma ou teoria da gestalt. A percepcao apresenta estreita ligacao com os sentidos, sendo as primeiras etapas realizadas pelos sistemas sensoriais, responsaveis por sua fase analitica. E como se cada caracteristica fosse separada em suas partes constituintes, tais como forma, cor, movimentos e assim por diante. Porem, percebe o mundo com totalidades integradas e nao com sensacoes fracionadas, o que faz supor que existam outros mecanismos, alem daqueles de natureza analitica, que contribuem para nossa percepcao sintetica. Faz-se necessario entender como a percepcao, con...
Este trabalho teve como objetivo avaliar a producao de taninos em diferentes partes da arvore e g... more Este trabalho teve como objetivo avaliar a producao de taninos em diferentes partes da arvore e gerar equacoes que possibilitassem estimar a producao de taninos baseadas no diâmetro a 1,30m de altura do solo e altura total das arvores. Os dados foram coletados no Municipio de Botumirim - MG. Para modelagem utilizou dados de producao de taninos em amostras de cascas e folhas do barbatimao, utilizando os metodos de Folin-Ciocalteaue de precipitacao da caseina. A partir da absorbância, utilizou-se a curva de calibracao para determinacao de tanino. As medias da producao de taninos das cascas dos galhos grossos e finos, do fuste e das folhas foram comparadas em uma analise de variância de um criterio e teste de Tukey para um nivel de significância de 5%. As equacoes foram ajustadas para modelagem da producao de tanino em funcao do diâmetro e altura. As producoes nas diferentes partes da arvore diferiram estatisticamente e com o teste de medias, no qual as folhas apresentam quantidades in...
O uso dos métodos de otimização como ferramenta de auxílio ao manejo florestal cresceu nas última... more O uso dos métodos de otimização como ferramenta de auxílio ao manejo florestal cresceu nas últimas décadas. No entanto, há a necessidade de entender como essas técnicas foram aplicadas ao manejo florestal no Brasil. Assim, este trabalho apresenta uma visão geral sobre o comportamento da ciência florestal brasileira nesse aspecto, indicando tendências e lacunas que podem servir de base para futuros estudos. Foram selecionados os periódicos de maior relevância acadêmica na categoria florestal a partir da base de dados Journal Citation Reports. Os artigos foram analisados em termos do banco de dados utilizado (se real ou teórico), gênero das espécies cultivadas, nível de planejamento (estratégico, tático ou operacional), modelo de planejamento, método utilizado para resolver o problema proposto (programação matemática clássica ou meta-heurísticas), tipo de função-objetivo e categoria de restrições. Como resultado, foram encontrados 44 artigos publicados no período de 1976 a 2019. Os ti...
The planning of forest production requires the adoption of mathematical models to optimize the ut... more The planning of forest production requires the adoption of mathematical models to optimize the utilization of available resources. Hence, studies involving the improvement of decision-making processes must be performed. Herein, we evaluate an alternative method for improving the performance of metaheuristics when they are applied for identifying solutions to problems in forest production planning. The inclusion of a solution obtained by rounding the optimal solution of linear programming to a relaxed problem is investigated. Such a solution is included in the initial population of the clonal selection algorithm, genetic algorithm, simulated annealing, and variable neighborhood search metaheuristics when it is used to generate harvest and planting plans in an area measuring 4,210 ha comprising 120 management units with ages varying between 1 and 6 years. The same algorithms are executed without including the solutions mentioned in the initial population. Results show that the perform...
The use of artificial intelligence as a tool to aid in the planning of forest production has gain... more The use of artificial intelligence as a tool to aid in the planning of forest production has gained more and more space. Highlighting the metaheuristics, due to the ability to generate optimal solutions for a given optimization problem in a short time, without great computational effort. The present study aims to evaluate the performance of the metaheuristics Genetic Algorithm, Simulated Annealing, Variable Neighborhood Search and Clonal Selection Algorithm applied in a model of regulation of forest production. It was considered a planning horizon of 16 years, in which the model aims to maximize the Net Present Value (NPV), having as restrictions age of cut between 5 and 7 years and minimum and maximum logging demand of 140,000 and 160,000 m3, respectively. Different combinations of configurations were considered for each of the metaheuristics, 30-second processing time and 30 replicates for each configuration, all processing being performed in MeP - Metaheuristics for forest Planni...
Revista Científica UNTRM: Ciencias Naturales e Ingeniería, Nov 21, 2017
El presente estudio fue realizado con los objetivos de comparar, ajustar y evaluar el modelo de c... more El presente estudio fue realizado con los objetivos de comparar, ajustar y evaluar el modelo de crecimiento y producción propuesto por Clutter (Sistema de Ecuaciones) y por Redes Neuronales Artificiales (RNA) para una plantación de eucalipto (híbridos de Eucalyptus urophylla x Eucalyptus grandis), localizado en la región Centro Oeste del Estado de Minas Gerais, Brasil. Medidas en diferentes años, entre los 19 y 106 meses. Se realizó cinco mediciones sucesivas. Después del análisis, se verificó que el algoritmo computacional RNA, es más preciso en las estimaciones que la regresión lineal con la ventaja de agregar datos categóricos y el menor tiempo de procesamiento de datos.
This paper seeks to estimate tree volumes of different species from the Brazilian savanna by usin... more This paper seeks to estimate tree volumes of different species from the Brazilian savanna by using artificial neural networks and by making comparisons of results with estimates obtained from traditional volumetric equations. Data was obtained from 15 squared samples of 400 m² in an area of 29.6 ha. In each plot, breast height diameter (D) (diameter at 1.30 m from soil), total height (Ht) and commercial height (Hc) of all individuals with D equals or higher than 3.0 cm were measured. Afterwards, each tree was felled for volume measurement. Huber method was used considering measurement of stem diameters with more than 3.0 cm. Obtained data was used to train artificial neural networks (ANN) and to adjust volumetric equations to estimate total and commercial volume of trees. This study has shown that ANN and regression models are efficient for obtaining estimated volumes of trees in the Brazilian savanna. This suggests that artificial neural networks, that take into consideration speci...
Objetivou-se neste trabalho identificar a idade técnica de desbaste em povoamentos de Tectona gra... more Objetivou-se neste trabalho identificar a idade técnica de desbaste em povoamentos de Tectona grandis L.f. considerando diferentes espaçamentos. Os dados utilizados são oriundos de uma rede de parcelas experimentais, com áreas iguais a 1505 e 1548 m², instaladas em dois locais no município de Água Boa, Mato Grosso, e compreendendo 12 espaçamentos. Foram consideradas nove repetições por espaçamento em delineamento inteiramente casualizado. As medições de altura total e diâmetro a 1,3 m de altura foram realizadas nas idades de 26, 42, 50 e 78 meses. Para a modelagem da distribuição diamétrica, utilizou-se a função Weibull e um conjunto de equações para estimar os parâmetros da função em uma idade futura. A idade técnica de desbaste foi definida a partir da aplicação do Método dos Ingressos Percentuais, com utilização do modelo expolinear. A estagnação do crescimento ocorreu mais cedo nos espaçamentos mais adensados, apresentando menores idades técnicas de desbaste, as quais variaram entre 6 e 8 anos. O método de ingressos percentuais e modelos de distribuição diamétrica são eficientes para definição da idade técnica de desbaste em povoamentos de teca com diferentes espaçamentos.
The objective of this work was to evaluate the effect of forest rotation on the technical and eco... more The objective of this work was to evaluate the effect of forest rotation on the technical and economic feasibility of eucalyptus wood production for charcoal, in different productivity classes. Data came from Eucalyptus stands whose area was stratified into three classes of productivity: high, medium, and low. To each class, a different criterion of forest rotation was applied, as follows: age of maximum productivity, economic rotation age, single harvest age, and no technical parameter. Analyses of economic feasibility and production were performed for a 21-year planning horizon. For rotation without a technical parameter, a simulation by the Monte Carlo method was performed. For all rotation criteria, feasibility was observed for high-and medium-productivity classes, and unfeasibility for the low-productivity class. For rotation without a technical parameter, there is no chance for the project to be unfeasible. Wood production viability for charcoal under the studied conditions depends on the productivity class, for any rotation criterion adopted. Rotation criterion influences profitability, whose definition, according to productivity class, contributes to forest production maximization and to the economic return of the project, under the studied conditions.
This study aims to propose and implement a conceptual model of an intelligent system in a georefe... more This study aims to propose and implement a conceptual model of an intelligent system in a georeferenced environment to determine the design of forest transport fleets. For this, we used a multi-agent systems based tool, which is the subject of studies of distributed artificial intelligence. The proposed model considers the use of plantation mapping (stands) and forest roads, as well as information about the different vehicle transport capacities. The system was designed to adapt itself to changes that occur during the forest transport operation process, such as the modification of demanded volume or the inclusion of route restrictions used by the vehicles. For its development, we used the Java programming language associated with the LPSolve library for the optimization calculation, the JADE platform to develop agents, and the ArcGis Runtime to determine the optimal transport routes. Five agents were modelled: the transporter, controller, router, loader and unloader agents. The mode...
The heterogeneous behavior of wood during drying is a process difficult to control. The objective... more The heterogeneous behavior of wood during drying is a process difficult to control. The objective of this study was to evaluate the accuracy of the neuro-fuzzy hybrid system for monitoring wood moisture during drying. Eucalyptus urophylla x Eucalyptus grandis samples (2 x 2 x 4 cm) were saturated and dried in climatic chamber for 15 days. Basic density was determined by the dry mass/saturated volume ratio. Two neuro-fuzzy systems were developed to monitor wood moisture, the first based on the genetic material and drying period and the second based on basic density and drying period. The drying rate of wood samples was higher at the initial period and all reached equilibrium moisture content after 15 days. Density showed relationship with wood moisture during the study period. Both systems have the potential to monitor moisture, however, neuro-fuzzy system based on basic density and drying period showed better results and is therefore more suitable.
VNS is effi cient to solve a forest planning problem. Algorithm parameters are important to fi nd... more VNS is effi cient to solve a forest planning problem. Algorithm parameters are important to fi nd a good solution quickly.
Increased arterial stiffness is an important determinant of the risk of cardiovascular disease. L... more Increased arterial stiffness is an important determinant of the risk of cardiovascular disease. Lipid profile impairment, especially hypercholesterolemia, is associated with stiffer blood vessels. Thus, the aim of this study was to determine which of the five circulating lipid components (high-density lipoprotein cholesterol (HDL-C), non-high-density lipoprotein cholesterol (non-HDL-C), low-density lipoprotein cholesterol (LDL), total cholesterol (TC) and triglycerides) is the best predictor of increased arterial stiffness in an urban Brazilian population. A random sample of 1,662 individuals from the general population of Vitoria, Brazil (25-64 years), was selected, and lipid components were measured using standard methods. Pulse wave velocity was measured using a non-invasive automatic device, and increased arterial stiffness was defined as a pulse wave velocity ≥10 m/s. In men, only total cholesterol (OR=1.59; CI=1.02 to 2.48, p=0.04) was associated with the risk of increased art...
desenvolvido através de uma parceria entre a UFJF e o INCOR/HC-FMUSP, na cidade de Baependi (MG).... more desenvolvido através de uma parceria entre a UFJF e o INCOR/HC-FMUSP, na cidade de Baependi (MG). O projeto baseiase na metodologia participativa na construção de um ensino integral, tendo como ferramentas o teatro de fantoches e a música, e objetiva a promoção da saúde das crianças envolvidas, esperando despertar nelas o interesse pela ciência e pesquisa, fomentando a busca pelo conhecimento e incentivo ao autocuidado. Ao final das oficinas realizadas, foi visível a evolução quanto à participação dos alunos, ao interesse e à compreensão dos temas, o que foi relatado tanto pelos docentes da escola, como pelos familiares. Concluise, assim, que a introdução ainda na infância de conhecimento em saúde mostrou-se eficaz na promoção de autocuidado e prevenção de morbidades, reforçando o propósito das escolas como terrenos férteis para a disseminação de conceitos em saúde.
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