The interval since first symptoms until diagnosis of squamous cell carcinoma in the head and neck region is still a problem in southern Brazil

The aim was to examine the interval since first symptoms until final diagnosis of squamous cell carcinoma (SCC) in the head and neck region in southern Brazil. The individuals were prospectively selected and underwent anamnesis, physical examination and interview in the first medical consultation at a Cancer Hospital from south of Brazil. From 488 patients who underwent clinical examination, 105 were included in the study with diagnosis of SCC. Patients average interval from first symptoms to final diagnosis was 152 days (median 86; max:1105; min: 1), the average professional interval was 108 days (median: 97; max:525; min: 1) , and the average total period interval was 258 days (median: 186; max:1177; min: 45). Factors statistically associated with patient and diagnosis itinerary intervals were smoking and poorly adapted dentures and distance from home to hospital, respectively. The identification of the itinerary characteristics of this specific population may reflect in more effective public policies, such as primary and secondary prevention programs, aiming to increase the survival of oncological patient. Furthermore, the knowledge of the variables that influence the late diagnosis minimizes patient's journey in search of care to cancer centers through health programs

Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes.

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Variants at the ASIP locus contribute to coat color darkening in Nellore cattle

Background: Nellore cattle (Bos indicus) are well-known for their adaptation to warm and humid environments. Hair length and coat color may impact heat tolerance. The Nellore breed has been strongly selected for white coat, but bulls generally exhibit darker hair ranging from light grey to black on the head, neck, hump, and knees. Given the potential contribution of coat color variation to the adaptation of cattle populations to tropical and sub-tropical environments, our aim was to map positional and functional candidate genetic variants associated with darkness of hair coat (DHC) in Nellore bulls. Results: We performed a genome-wide association study (GWAS) for DHC using data from 432 Nellore bulls that were genotyped for more than 777 k single nucleotide polymorphism (SNP) markers. A single major association signal was detected in the vicinity of the agouti signaling protein gene (ASIP). The analysis of whole-genome sequence (WGS) data from 21 bulls revealed functional variants that are associated with DHC, including a structural rearrangement involving ASIP (ASIP-SV1). We further characterized this structural variant using Oxford Nanopore sequencing data from 13 Australian Brahman heifers, which share ancestry with Nellore cattle; we found that this variant originates from a 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons. Conclusions: Our results indicate that the variant ASIP sequence causes darker coat pigmentation on specific parts of the body, most likely through a decreased expression of ASIP and consequently an increased production of eumelanin

Ethiopian indigenous goats offer insights into past and recent demographic dynamics and localadaptation in sub-Saharan African goats

Abstract Knowledge on how adaptive evolution and human socio‐cultural and economic interests shaped livestock genomes particularly in sub‐Saharan Africa remains limited. Ethiopia is in a geographic region that has been critical in the history of African agriculture with ancient and diverse human ethnicity and bio‐climatic conditions. Using 52K genome‐wide data analysed in 646 individuals from 13 Ethiopian indigenous goat populations, we observed high levels of genetic variation. Although runs of homozygosity (ROH) were ubiquitous genome‐wide, there were clear differences in patterns of ROH length and abundance and in effective population sizes illustrating differences in genome homozygosity, evolutionary history, and management. Phylogenetic analysis incorporating patterns of genetic differentiation and gene flow with ancestry modelling highlighted past and recent intermixing and possible two deep ancient genetic ancestries that could have been brought by humans with the first introduction of goats in Africa. We observed four strong selection signatures that were specific to Arsi‐Bale and Nubian goats. These signatures overlapped genomic regions with genes associated with morphological, adaptation, reproduction and production traits due possibly to selection under environmental constraints and/or human preferences. The regions also overlapped uncharacterized genes, calling for a comprehensive annotation of the goat genome. Our results provide insights into mechanisms leading to genome variation and differentiation in sub‐Saharan Africa indigenous goats

Optimization techniques based on particle swarm paradigm and its application to the design of eletromagnetic devices.

O presente trabalho propõe a utilização do método de otimização baseado no paradigma de enxame de partículas no projeto de um dispositivo eletromagnético, modelado analiticamente. A otimização baseada em enxames de partículas pertence à classe dos algoritmos evolutivos e é baseada no algoritmo de simulação do movimento de pássaros na busca por comida. O trabalho será focado na resolução de problemas de otimização multiobjetivo e apenas alguns casos de otimização mono-objetivo serão resolvidos para demonstrar a funcionalidade do método de otimização. Dois métodos de otimização multiobjetivo são propostos: um é baseado num algoritmo de otimização multiobjetivo que utiliza o paradigma de enxames em conjunto com soluções adotadas pelo algoritmo genético multiobjetivo denominado Nondominated Sorting Genetic Algorithm-II (NSGA-II) e o outro é baseado também no paradigma de enxames utilizando elementos do algoritmo de otimização multiobjetivo intitulado Strength Pareto Evolutionary Algorithm (SPEA). Ambos algoritmos são validados em um problema de otimização baseado no projeto de um motor de corrente contínua sem escovas, um benchmark de otimização.This work proposes the use of the optimization method based on the particle swarm paradigm in the design of electromagnetic device, analytically modeled. Particle swarm optimization belongs to the class of evolutionary algorithms and is based on the movement simulation of birds searching for food. This work will be focused on solving multi-criteria optimization problems and some cases of single-objective optimization problems will be solved only to demonstrate the functionality of optimization method. Two multi-criteria optimization methods are proposed: one based on an optimization algorithm that uses the multiobjective particle swarm paradigm and some concepts extracted from the multiobjective genetic algorithm called Nondominated Sorting Genetic Algorithm-II (NSGA-II) and the other is based on the particle swarm paradigm by using some elements of another multiobjective optimization algorithm entitled Strength Pareto Evolutionary Algorithm (SPEA). Both methods are applied to an optimization problem related to the design of a brushless direct current motor

Avaliação da autozigosidade em vacas Nelore (Bos indicus) através de genótipos SNP de alta densidade

The current beef cattle chain has had significant help of animal breeding programs to its success. The development of different methods to perform phenotypic and genotypic evaluation has the objective of selecting flocks and producing genetically superior animals with standardized production. The productive standardization of a herd must be the result of directed matings, which can lead to increased incidence of homozygous alleles in the genome of animals. The increase of autozygosity in the population, i.e., increasing the number of animals with alleles identical by descent (IBD), is derived from the mating of related individuals. In this context, the most robust tool to identifies the animal's genome fragments that are identical by descent is the estimation of the inbreeding coefficient based on runs of homozygosity (ROH), which is called (FROH). Evolutionary events, such as the process of natural selection, random or genetic drift, and population bottleneck, may have contributed towards increasing the autozygosity and occurrence of IBD alleles in the genome of a population resulting crosses of related individuals. This thesis reviewed the state of the art with respect to the study of inbreeding determined by genomic analysis (Chapter 1), and applied this knowledge in the analysis of the distribution of autozygosity levels based on runs of homozygosity (ROH) in 1,278 Nelore females genotyped to more than 777,000 SNPs, and identified autozygote regions possibly associated with natural selection, domestication, fertility, evolution and adaptation of cattle (Chapter 2). This study open prospects for conducting detailed analysis on the influence of genomic autozygosity caused by selective pressure on specific alleles in Nelore cattleA pecuária bovina de corte da atualidade conta com o auxílio significativo dos programas de melhoramento genético animal para seu sucesso. O desenvolvimento de distintos métodos para realizar avaliações fenotípicas e genotípicas, tem o intuito de selecionar os rebanhos e obter animais geneticamente superiores com produção padronizada. A padronização produtiva de um rebanho deve ser resultante de acasalamentos dirigidos, que podem levar ao aumento da ocorrência de alelos homozigotos no genoma dos animais. Esse aumento da autozigosidade na população, isto é, o aumento do número de animais com alelos idênticos por descendência (IBD), provém do acasalamento entre indivíduos aparentados. Nesse contexto, a ferramenta mais robusta para identificar os fragmentos do genoma animal que são idênticos por descendência é a estimação do coeficiente de endogamia baseado nas corridas de homozigosidade (ROH), que é denominado (FROH). Eventos evolutivos, tais como: o processo de seleção natural, a deriva genética ou aleatória, e o gargalo populacional, podem ter contribuído com o aumento da autozigosidade e da ocorrência de alelos IBD no genoma de uma população resultante da reprodução entre indivíduos aparentados. Essa dissertação revisou o estado da arte do que concerne o estudo da endogamia determinada por análises genômicas (Capítulo 1), e aplicou tais conhecimentos na análise da distribuição dos níveis de autozigosidade baseado em corridas de homozigosidade (ROH) em 1.278 fêmeas da raça Nelore genotipadas para mais de 777 mil SNPs, e identificou regiões autozigotas possivelmente associadas à seleção natural, domesticação, fertilidade, evolução e adaptação dos bovinos (Capítulo 2). O presente estudo abre perspectivas para a realização de análises detalhadas que permitam a mensuração da influência da autozigosidade genômica causada pela pressão seletiva sobre alelos específicos em bovinos ..

Período entre a sintomatologia inicial do paciente até o diagnóstico de carcinoma epidermóide na região de cabeça e pescoço

Orientador: Prof. Dr. Cassius Carvalho Torres-PereiraCoorientadora: Profa. Dra. Juliana Lucena SchusselDissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Odontologia. Defesa : Curitiba, 14/12/2017Inclui referências: p. 34-39Resumo: O número de casos de câncer de boca e orofaringe permanece estável a cada ano que passa, mas o problema de saúde pública continua sendo importante e alarmante. Sendo assim, o objetivo deste estudo foi analisar as variáveis que influenciam o tempo decorrido desde o primeiro atendimento até o diagnóstico na atenção terciária, como também as variáveis que influenciaram esse período. Para este estudo, foram selecionados pacientes de forma prospectiva, em uma amostra por conveniência, no período de agosto de 2016 a abril de 2017. Foram incluídos no estudo pacientes que fariam a primeira consulta no Serviço de Cirurgia de Cabeça e Pescoço do Hospital Erasto Gaertner (Curitiba, PR), com hipótese diagnóstica de carcinoma epidermoide em boca e orofaringe. Os pacientes foram submetidos a anamnese, exame físico e entrevista na consulta inicial. Um total de 488 pacientes foram entrevistados, sendo que 105 pacientes tiveram diagnóstico confirmado de carcinoma epidermoide e foram incluídos no estudo. O tempo médio decorrido entre a sintomatologia inicial até a consulta na atenção primária foi de 148,9 dias (mediana: 79) com máximo de 1105 dias e mínimo de 1 dia; intervalo do profissional com média de 201,8 dias (mediana: 132) com máxima de 525 e mínimo de 1 dia; e por fim o intervalo total perfazendo uma média de 276,6 dias (mediana: 109) com máximo de 1177 dias e mínimo de 45 dias. Os fatores analisados, e que mostram significância estatística com o tempo decorrido, sendo esse desde o primeiro sintoma a chegada à atenção terciária, foram: localização da moradia, tabagismo e prótese mal adaptada. A identificação das características desta população específica pôde ajudar na abordagem de barreiras no acesso nos diferentes níveis de atenção colaborando para o desenvolvimento de políticas públicas mais eficazes na diminuição da morbimortalidade. Palavras-chave: atraso de diagnóstico, carcinoma epidermoide, epidemiologia, neoplasia bucal, orofaringe.Abstract: The number of patients with mouth and oropharyngeal carcinoma has increased in recent years, even with advances in molecular biology and genetics, which may aid in the diagnosis, therapeutic protocols and prognosis of tumours. The main objective was to evaluate the time of pre-diagnostic patient pathways diagnosed with malignant tumours, to evaluate the periods until diagnosis and the variables that lead to the condition. With the knowledge of the variables that influence the late diagnosis, it could be possible to minimize patient's journey in search of care to cancer centers through health programs aimed to this population thus reducing morbidity and improving survival. The individuals were prospectively selected from August 2016 to April 2017 and underwent anamnesis, physical examination and interview in the initial consultation of the Erasto Gaertner Hospital in the Department of Head and Neck Cancer. From 488 patients who underwent clinical examination, 105 patients had the diagnosis of squamous cell carcinoma, and were included in the study. Patients interval from initial presentation to diagnosis took a medium of 148.9 days (median: 79, maximum: 1105 days and a minimum:1 day); professional interval with an mean of 201.8 days (median:132) with a maximum of 525 days and a minimum of 1 day; and last, or total interval, with 276.6 days (median: 109) with a maximum of 1177 days and a minimum of 45 days. Factors statistically associated with patient and diagnosis itinerary intervals were: smoking, distance from home to hospital, and poorly adapted denturesand. The identification of the itinerary characteristics of this specific population may reflect in more effective public policies, such as primary and secondary prevention programs for oral and oropharyngeal squamous cell carcinoma. Keywords: time interval, time to diagnosis, diagnosis delay, squamous cell carcinoma, epidemiology, head and neck cancer, oral cancer