Estimating Sampling Selection Bias in Human Genetics: A Phenomenological Approach

This research is the first empirical attempt to calculate the various components of the hidden bias associated with the sampling strategies routinely-used in human genetics, with special reference to surname-based strategies. We reconstructed surname distributions of 26 Italian communities with different demographic features across the last six centuries (years 1447-2001). The degree of overlapping between "reference founding core" distributions and the distributions obtained from sampling the present day communities by probabilistic and selective methods was quantified under different conditions and models. When taking into account only one individual per surname (low kinship model), the average discrepancy was 59.5%, with a peak of 84% by random sampling. When multiple individuals per surname were considered (high kinship model), the discrepancy decreased by 8-30% at the cost of a larger variance. Criteria aimed at maximizing locally-spread patrilineages and long-term residency appeared to be affected by recent gene flows much more than expected. Selection of the more frequent family names following low kinship criteria proved to be a suitable approach only for historically stable communities. In any other case true random sampling, despite its high variance, did not return more biased estimates than other selective methods. Our results indicate that the sampling of individuals bearing historically documented surnames (founders' method) should be applied, especially when studying the male-specific genome, to prevent an over-stratification of ancient and recent genetic components that heavily biases inferences and statistics

Um sistema para o aprendizado automático de jogos eletônicos baseado em redes neurais e Q-Learning usando interface natural

Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Instituto de Ciências Exatas, Departamento de Ciência da Computação, 2017.Jogos eletrônicos conquistaram espaço no meio acadêmico à medida que se tornaram parte de pesquisas na área de Inteligência Artificial. Nos estágios iniciais, tais jogos são, geralmente, simples e de fácil aprendizado de sua mecânica. Porém, à medida que o jogador avança nos nesses, geralmente se tornam difíceis e complexos, passando a exigir altos níveis de habilidade e/ou raciocínio. Sob a hipótese de que a utilização de técnicas de processamento de sinais de vídeo e treinamento de redes neurais a fim de reconhecer as mecânicas dos jogos levará ao sucesso nesses jogos. Foi desenvolvido um sistema, a partir do algoritmo Q-learning com uso de rede neurais, capaz de aprender o padrão de diferentes jogos, cujo o desenvolvimento é detalhado neste trabalho. O modelo proposto supera abordagem aleatórias em jogos como Galaga, Enduro e Beamrider. Nos jogos Enduro e Beamider o sistema se aproxima do resultados obtidos por projetos feito com acesso à memória do emulador. No entanto, nos jogos Breakout e Pong, devido à falta de precisão do sistema de entrada e aos atrasos do sistema, não houve progresso em relação a um algoritmo que joga aleatoriamente.Electronic games have gained space in academia as they have become part of research in the area of Artificial Intelligence. In the early stages, electronic games are usually simple and easy to learn from their mechanics. However, as the player progresses in games, they usually become difficult and complex, requiring high levels of skill and / or reasoning. Under the hypothesis that the use of video signal processing techniques and training of neural networks to recognize the mechanics of games lead to success. A system was developed from the Q-learning algorithm using neural network, able to learn the pattern of different games, which development is detailed in this work. The proposed model overcomes random approaches in games such as Galaga, Enduro and B.Rider. In games Enduro and B.Rider the system approaches the results obtained by projects done with access to the memory of the emulator. However, in Breakout and Pong games, due to lack of precision and delays, when compared to other projects and random algorithm, test results were lower

Does the longevity of one or both parents influence the health status of their offspring?

According to the findings of some recent studies, the centenarians' offspring appear to represent a promising model for research on longevity and healthy aging. This study compares the health status and the functional status of three groups of subjects: 1. individuals with two long-lived parents (one of whom centenarian), 2. individuals with only one long-lived (centenarian) parent, and 3. individuals with no long-lived parents. The goal is to verify whether the centenarians' offspring display any advantage over the offspring of both non-long-lived parents and to evaluate whether the longevity of the non-centenarian parent provides a further advantage. A total of 374 subjects (mean age approximately 70 years) was examined. A threshold for longevity was established for non-centenarian parents through demographic data available for Italy (males surviving to at least 81 years of age and females to 87 years). The participants were assessed for their health and functional status by means of a standardized questionnaire and tests of physical performance. Data were analyzed using multivariate regression models adjusted for socio-demographic characteristics and risk factors for age-related pathologies. The results of the study show that centenarians' offspring have a better functional status, a reduced risk for several age-related pathologies and reduced drug consumption than the offspring of non-long-lived parents. In addition, the health status of centenarians' offspring does not appear to be influenced by the longevity of the second parent. It therefore seems possible to conclude that at ages around 70 years the genetic contribution to health status deriving from having one centenarian parent is not substantially improved if the other parent is also long-lived

Disciplina 4.4 – métodos de planejamento aplicados ao desenho de programas

A disciplina teve como conteúdos: principais metodologias de planejamento e sua aplicação na construção de programas. A seleção de problemas para a construção da agenda de governo. O processamento de problemas. Antecedentes do desenvolvimento da proposta de Modelo Lógico de Resultados. Componentes do Modelo Lógico e sua utilização como ferramenta auxiliar na sistematização dos trabalhos de monitoramento e avaliação de programas governamentaisNúmero de páginas: 3 p.Número de slides: 63Planejamento GovernamentalPolíticas Públicas e Sociai

Centenarians' offspring as a model of healthy aging: a reappraisal of the data on Italian subjects and a comprehensive overview

Within the scenario of an increasing life expectancy worldwide it is mandatory to identify determinants of healthy aging. Centenarian offspring (CO) is one of the most informative model to identify trajectories of healthy aging and their determinants (genetic and environmental), being representative of elderly in their 70th whose lifestyle can be still modified to attain a better health. This study is the first comprehensive investigation of the health status of 267 CO (mean age: 70.2 years) and adopts the innovative approach of comparing CO with 107 age-matched offspring of non-long-lived parents (hereafter indicated as NCO controls), recruited according to strict inclusion demographic criteria of Italian population. We adopted a multidimensional approach which integrates functional and cognitive assessment together with epidemiological and clinical data, including pro- and anti-inflammatory cytokines and adipokines, lipid profile, and insulin resistance. CO have a lower prevalence of stroke, cerebral thrombosis-hemorrhage, hypertension, hypercholesterolemia, and other minor diseases, lower BMI and waist circumference, a better functional and cognitive status and lower plasma level of FT4 compared to NCO controls. We conclude that a multidimensional approach is a reliable strategy to identify the health status of elderly at an age when interventions to modify their health trajectory are feasible

Thymic output and functionality of the IL-7/IL-7 receptor system in centenarians: implications for the neolymphogenesis at the limit of human life

During aging, the thymus undergoes a marked involution that is responsible for profound changes in the T-cell compartment. To investigate the capacity of the thymus to produce new cells at the limit of human lifespan, we analyzed some basic mechanisms responsible for the renewal and maintenance of peripheral T lymphocytes in 44 centenarians. Thymic functionality was analyzed by the quantification of cells presenting the T-cell receptor rearrangement excision circles (TREC). A new method based upon real-time PCR was used, and we found that most centenarians (84%) had undetectable levels of TREC+ cells. Six-color cytofluorimetric analysis revealed that centenarians had an extremely low number of naive T cells; central memory and effector memory T cells were greatly increased, while terminally differentiated cells were as numerous as in young (aged 20-45) or middle-aged (aged 58-62) donors. Interleukin (IL)-7 and IL-7 receptor alpha-chain (CD127) levels were the same at all ages, as shown by ELISA, flow cytometry and real-time PCR. However, IL-7 plasma levels were higher in centenarian females than males. The presence of TREC+ cells and of very few naive T lymphocytes suggests that in centenarians such cells could either derive from residues of thymic lymphopoietic islets, or even represent long-living lymphocytes that have not yet encountered their antigen. IL-7 could be one of the components responsible, among others, for the higher probability of reaching extreme ages typical of females

Analysis of an industrial refrigerating machine using two different refrigerants

Este trabalho estuda a viabilidade da substituição do fluido refrigerante R404A de um ciclo de compressão de vapor empregado nas máquinas de refrigeração industrial em uma empresa situada em Porto Alegre - RS por empregado em um ciclo cascata operando conjuntamente com R134a nas mesmas condições de operação. Os resultados indicam que o ciclo cascata CO2/R134a, mesmo em temperaturas mais altas, possui um COP 25% superior àquele do ciclo de compressão por vapor usando R404A. O estudo mostrou, ainda, que a máquina utilizando CO2 é cerca de 50% mais cara que a máquina utilizando R404A. Porém, o consumo de energia da máquina com CO2 é aproximadamente 22% menor que a outra. Dessa forma, a máquina utilizando CO2 após um tempo de 17 meses retorna o investimento, reduzindo o consumo de energia e poluindo menos o meio ambiente.This work studies the possibility of replacing the R404A refrigerant of a vapor compression cycle used in industrial refrigeration machines in a company located in Porto Alegre - RS to used in a cascade cycle operating in conjunction with R134a with the same operating conditions. The results indicate that cascade cycle /R134a, even at higher temperatures, has a COP 25% greater than vapor compression cycle using R404A. The study also showed that the machine using is about 50% more expensive than the machine using R404A. However, the machine's energy consumption with CO2 is approximately 22% smaller than the other. Thus, the machine using CO2 after a time of 17 months returns the investment, reducing energy consumption and less polluting the environment