875 resultados para Triagem genética


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O Enfarte Agudo do Miocárdio (EAM) continua a ser uma causa de mortalidade e morbilidade importante na população portuguesa apesar da tendência constante de decréscimo verificada nos últimos anos. Isto deve-se à eficácia das medidas genéricas de prevenção desde a adopção de estilos de vida mais saudáveis à correção dos factores de risco modificáveis, associada a um avanço significativo na terapêutica de revascularização. O objetivo geral do nosso estudo foi avaliar as caraterísticas sociodemográficas e clínicas do doente com Enfarte Agudo do Miocárdio e relacioná-las com a classificação de risco efetuada aquando da triagem pelo STM. Trata-se de estudo retrospetivo com abordagem quantitativa, do tipo exploratório, descritivo e analítico. A recolha dos dados foi realizada através do Software ALERT®. Foram incluídos todos os doentes que deram entrada no serviço de urgência do CHUC - HUC a quem foi diagnosticado Enfarte Agudo do Miocárdio no período compreendido entre 01 de janeiro de 2010 e 31 de dezembro de 2012, num total de 1133 casos. A população é coincidente com a amostra. A maioria dos doentes com EAM era do sexo masculino, com idade superior a 72 anos, vindos do domicílio, acompanhados por bombeiro ou familiar; 62,7% foram triados por ?dor torácica?, pedido ECG e atribuída uma prioridade emergente/muito urgente, ficaram internados na UCIC por um período de 3 a 9 dias e 72,9% regressou a casa. O STM mostrou-se sensível no que concerne ao grupo etário e ao sexo, foi capaz de fazer a distinção entre: doentes que tinham alta e baixa probabilidade de morrer; indivíduos que ficaram hospitalizados e aqueles que tiveram alta. É efectivo para classificar casos graves de dor torácica típica, resultando numa intervenção rápida e consequente redução da mortalidade e morbilidade dos doentes.

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The peaches and nectarines are highly appreciated by consumer, but it is climacteric fruits, with availability in the market in small time. It is necessary to invest to obtain genotypes with fruit quality and small perishability or that it presente less physiological disorders after storage. The aims of this work were i) to evaluate the genetic divergence among 40 peach and nectarine trees genotypes based on postharvest quality and select posible parents; ii) to evaluate the susceptibility to chilling injury in peaches and nectarines after cold storage; iii) to evaluate divergence of peaches and nectarines on the basis in the susceptibility for chiling injury and select superior genotypes; iv) evaluate the correlations between quality and susceptibility to chilling injury of peaches and nectarines v) select parents with the combination of lower susceptibility to chilling injury and higher quality fruit. The study was carried out in EEAD-CSIC, Zaragoza - Spain, during the production cycle 2013/2014. A total of 40 peaches and nectarines genotypes from germplasm collection were evaluated. The quality characteristics as flesh firmness, total soluble solids, titratable acidity, pH, rippining index and flesh color parameters were evaluated. The fruits were submitted to cold storage at 0 °C and 5 °C, with 95% average relative humidity. The evaluations were after 14 and 28 days, it being observed the presence of symptoms, such as wooliness through mealiness, flesh grainy, leatheriness and flesh color changes, through browning, bleeding and off flavor. As a selection parameter was adopted 20% of genotypes that had a higher frequency of superiority for quality characteristics, susceptibility to chilling injury and the combining of both. For quality characteristic presented greater divergence the ‘Queen Giant’, ‘Sudanel Blanco’ and ‘Borracho de Jarque’. Based on the quality the eight genotypes were selected, ‘Andross’, ‘San Jaime’, ‘San Lorenzo’, ‘Borracho de Jarque’, ‘Sudanell 1’, ‘Carson’, ‘Baby Gold 6’ and ‘Stanford’. All genotypes studied exhibited susceptibility to one or more symptoms caused by cold storage during 28 days, independent of temperature. For 14 days, the ‘Baby Gold 6’, ‘Flavortop’ and ‘Queen Giant’ genotypes did not show any physiological disorder caused by cold. In general, the temperature of 0 °C favored fruit postharvest conservation, it have a lower incidence and severity of symptoms caused by cold storage. The storage for 14 days contributed for the lower incidence of damage in the genotypes fruits studied. For 14 days, with both temperatures, it was observed divergence for ‘Queen Giant’, ‘Sudanell Blanco’, ‘Baby Gold 6’ ‘GF3’, ‘Baby Gold 8’, ‘Campiel’ and ‘Campiel Rojo’ genotypes. For 28 days, in the 5 °C condition, ‘Queen Giant’, ‘Big Top’, ‘Flavortop’ and ‘Redhaven’ genotypes were divergents. Based on susceptibility to chilling injury at 0 °C, the eight genotypes were selected, it being these, ‘Queen Giant’, ‘Keimoes’, ‘Flavortop’, ‘Big Top’, 'Redhaven', 'Sudanell 3', 'Bonet I' and ‘Carson’. The quality parameters as rippining index, soluble solids, firmness and titratable acidity presented correlation among them. These, also it had correlation with woolines and bowning, what it indicate that fruits with more ripening can have this symptoms more easily. The browning, mealiness, flesh grainy and off flavor variables were correlationed with the time period and temperartures, what it confirm that these symptoms are the main disorders caused by cold storage. The quality characteristics together susceptibility to chilling injury allowed selected ‘Baby Gold 6’, ‘Sarell’, ‘Keimoes’, ‘GF3’ ‘San Jaime’, ‘Big Top’, ‘Sudanell 1’, ‘Carson’, ‘Baby Gold 8’, and ‘San Lorenzo’ genotypes.

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To design strategies for the conservation and use of genetic resources of tree species such as jaboticaba tree, it is essential to make the characterization. In southwestern Paraná region, there are several forest fragments containing native jaboticaba tree (Plinia cauliflora), whose materials have broad potential for commercial orchards or breeding programs. As is the potential genetic diversity of a population to produce different genotypes, it would be able to start in such a characterization one of these fragments. The aim was to characterize fruits of jaboticaba tree (P. caulifora) of forest fragment kept in Clevelândia - PR for the presence of phenotypic variability, seeking to identify those superiors named for future selection as farming or male parent, as well as estimate genetic divergence between them, as a complementary tool for this purpose. Also, verify the regeneration and spatial distribution of the species. For the study was defined portion of a hectare (10.000 m²), with all individuals identified, mapped, with local coordinate system, and measured height and diameter. Fruits were characterized by sensory and biochemical characteristics in two years, 70 genotypes at 2013 and 56 at 2014, and of these 33 genotypes in both years. As a pre-selection criteria was adopted the choice of 20% of the genotypes that showed the highest frequency of superiority in the evaluated characteristics of the fruit. Genetic divergence among 33 genotypes per year was analyzed. The distribution pattern and spatial association was evaluated by Ripley's K function. It was classified for the first time the following ontogenetic stages of jaboticaba tree, by plant height, seedling (from 0.01 to 0.99 m), juvenile (1.0 to 4.99 m), immature (> 5.0 m, non-reproductive), adult (reproductive). It was also have been describe for the first time the naturally occurring juxtaposed seedlings, indicating polyembryony. The number of regenerating identified in the population (seedlings: n = 2163; juveniles: n = 330; immature: n = 59) was much larger than the number of adults (n = 132). The species showed reverse J-shaped size structure standard, with high concentration of regenerating. The regeneration distribution occurs in aggregate pattern and there is seedling-adult dependence, due seed dispersal and seedling emergence closest to mothers. The jaboticaba tree regeneration is sufficient to maintain the species for long term in this population, which should serve as reference to regeneration success for other studies of this important fruiting species from Ombrofile Mixed Forests. Has been pre-selected the jaboticaba trees 7, 42, 43, 47, 54, 91, 97, 104, 105, 118, 134, 153, 154, 157, 163, 169, 177, 186, 212, J7-01 and J7- 02, and 16 and 194 the ones that can now be selected by the superior characteristics of both cycles. It was recommended to carry out hybridization between genotypes 79 and 119, and 96 to 148. The quality of fruit analyzed showed potential for use as a dual purpose serving both in natura market or processing.

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This study aimed to assess the genetic inheritance, determine the better DNA isolation protocol for this species and to identify molecular markers associated with the Wild Poinsettia (Euphorbia heterophylla L.) resistance ALS- and PROTOX- inhibiting herbicides and. The genetic inheritance of resistance was determined from crosses between E. heterophylla biotypes susceptible (S) and resistant (R), backcrosses and F2 generation. The complete dominance of resistance was confirmed with dose response curves. Ten adjusted methods for DNA isolation described in the literature were tested. The specific primers for ALS and PROTOX genes were designed from the consensus DNA sequence of these genes, obtained by aligning the gene sequences of the species Manihot esculenta and Ricinus communis L. Additionally, it was assessed the transferability of twenty SSR (simple sequence repeat) markers designed for Manihot esculenta, because among the species of Euphorbiaceae with more developed SSRs markers, because it is the closest relative phylogenetic species of E. heterophylla. Regarding genetic inheritance, the frequencies observed in the F1, F2, RCs and RCr did not differ significantly from the expected frequencies for a trait controlled by two dominant genes for multiple resistance and a single dominant gene for simple resistance to ALS- and PROTOX-inhibiting herbicides. The similar levels of resistance to dosage up to 2000 g i.a. ha-1 of fomesafen and dosage up to 800 g i.a. ha-1 of imazethapyr observed in F1 (heterozygous) and homozygous R biotype confirm the complete dominance of resistance to PROTOX- and ALS-inhibiting herbicides, respectively. The 0.2%BME protocol allowed the isolation of 7,083 ng μL-1 DNA, significantly (P=0.05) higher than other methods. Co-isolation of phenolic compounds was observed in FENOL and 3%BME+TB methods, but the addition of polyvinylpyrrolidone (PVP40) in the protocol extraction buffer 3%BME+TA solved this problem. The primers designed for ALS and PROTOX genes amplified but not showed no visible polymorphism in agarose gel between the S and R biotypes of E. heterophylla. Regarding the SSR transferability, ten markers were transferred to E. heterophylla, however, these six primers showed polymorphism among S and R biotypes.

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A triagem consiste numa avaliação preliminar do paciente, a qual deverá ser efetuada rapidamente, em cerca de 60 segundos, e pode ser confiada à equipa paramédica. Esta avaliação tem como principal objectivo determinar se o animal apresenta uma ou várias lesões susceptíveis de comprometer as suas funções vitais. Ao longo deste trabalho, são demonstradas diferentes escalas de triagem, de forma a dar a conhecer diversas formas de abordagem ao paciente crítico. Devido ao facto de existirem cada vez mais pacientes a dar entrada nos serviços de urgência veterinária, cria-se a necessidade de tentar adaptar uma destas escalas a esta realidade, tal como acontece em medicina humana. Uma grande variedade de sistemas, que classificam a gravidade das doenças, têm sido usados nos cuidados intensivos em humanos e sistemas similares têm sido desenvolvidos para unidades de cuidados intensivos de pequenos animais. Deste modo, esta dissertação de mestrado, através de um estudo estatístico, procurou correlacionar diferentes variáveis com a sobrevivência de um grupo de animais, em estado crítico, que deu entrada no Centro Hospitalar Veterinário (CHV).

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The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

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Human multipotent mesenchymal stromal cells (MSCs), also known as mesenchymal stem cells, have become an important and attractive therapeutic tool since they are easily isolated and cultured, have in vitro expansion potential, substantial plasticity and secrete bioactive molecules that exert trophic effects. The human umbilical cord as a cell source for cell therapy will help to avoid several ethical, political, religious and technical issues. One of the main issues with SC lines from different sources, mainly those of embryonic origin, is the possibility of chromosomal alterations and genomic instability during in vitro expansion. Cells isolated from one umbilical cord exhibited a rare balanced paracentric inversion, likely a cytogenetic constitutional alteration, karyotype: 46,XY,inv(3)(p13p25~26). Important genes related to cancer predisposition and others involved in DNA repair are located in 3p25~26. Titanium is an excellent biomaterial for bone-implant integration; however, the use can result in the generation of particulate debris that can accumulate in the tissues adjacent to the prosthesis, in the local bone marrow, in the lymph nodes, liver and spleen. Subsequently may elicit important biological responses that aren´t well studied. In this work, we have studied the genetic stability of MSC isolated from the umbilical cord vein during in vitro expansion, after the cryopreservation, and under different concentrations and time of exposition to titanium microparticles. Cells were isolated, in vitro expanded, demonstrated capacity for osteogenic, adipogenic and chondrogenic differentiation and were evaluated using flow cytometry, so they met the minimum requirements for characterization as MSCs. The cells were expanded under different concentrations and time of exposition to titanium microparticles. The genetic stability of MSCs was assessed by cytogenetic analysis, fluorescence in situ hybridization (FISH) and analysis of micronucleus and other nuclear alterations (CBMN). The cells were able to internalize the titanium microparticles, but MSCs preserve their morphology, differentiation capacity and surface marker expression profiles. Furthermore, there was an increase in the genomic instability after long time of in vitro expansion, and this instability was greater when cells were exposed to high doses of titanium microparticles that induced oxidative stress. It is necessary always assess the risks/ benefits of using titanium in tissue therapy involving MSCs, considering the biosafety of the use of bone regeneration using titanium and MSCs. Even without using titanium, it is important that the therapeutic use of such cells is based on analyzes that ensure quality, security and cellular stability, with the standardization of quality control programs appropriate. In conclusion, it is suggested that cytogenetic analysis, FISH analysis and the micronucleus and other nuclear alterations are carried out in CTMH before implanting in a patient

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A saúde em Portugal encontra-se no caminho da mudança, rumo à excelência, pois questiona-se o sistema, a sua estrutura, os seus processos e os resultados. Uma das condições que mais influencia a competitividade entre instituições da saúde é a qualidade. Sendo a sociedade cada vez mais exigente, medi-la e avalia-la é um imperativo da época actual. O presente estudo teve como objectivo, contribuir para a realização de um diagnóstico de um processo de melhoria implementado num hospital privado de Lisboa - Hospital CUF Descobertas (HCD), no Serviço de Atendimento Permanente (SAP), à luz dos princípios da qualidade total. O procedimento da Triagem de Manchester é um processo que tem como principal objectivo o estabelecimento de prioridades, ou seja, identificar critérios de gravidade, de forma objectiva e sistematizada, que indicam a prioridade clínica com que o cliente deve ser atendido e o respectivo tempo de espera alvo recomendado até observação médica. Não se trata de estabelecer diagnósticos. Para o efeito, utilizou-se uma abordagem metodológica, suportada pelo modelo de auto-avaliação, designado Modelo Common Assessment Framework (CAF). Neste sentido, privilegiando-se a utilização dos critérios de meios deste modelo. Foi aplicado um questionário aos colaboradores do Serviço de Atendimento Permanente do Hospital CUF Descobertas. O Tratamento de dados estatísticos foi realizado com o apoio do SPSS, versão 16.0 e do Microsoft Excel. Os resultados deste estudo culminam com a identificação de pontos fortes, pontos fracos e sugestões de melhorias para o serviço em estudo. Neste sentido, este trabalho serviu de diagnóstico para se poder identificar em que ponto se situa e que rumo se deve seguir para se atingir um patamar de excelência relativamente à qualidade. Abstract: Health in Portugal finds itself on the path toward change, trying to find excellence while challenging the system and its structure, processes, and results. One of the conditions that most influences the competitiveness between the institutes of health is quality because society is becoming more demanding. Measuring and evaluating this change is happening in this current time. The present study has the objective of contributing and establishing a diagnostic tool relative to the process of improvement. This tool was used in a private hospital in Lisbon, Hospital CUF Descobertas, in the Emergency Room, in looking at the principles of total quality. This process designed through the Manchester Triage System has the main objective of the establishment of priorities through which we want to identify criteria of seriousness in an objective and systematic way that indicate a clinical priority with which the client is attended to in respect to the waiting time, giving a recommended time until medical observation. ln this sense, we do not diagnose patients in triage. For this effect, we used a methodological overview supported by the model of self-evaluation, the Common Assessment Framework (CAF}, in which we used the criteria: Leadership, Planning and Strategy, People, Resources and Processes. To arrive at this, a questionnaire was used by the collaborators of the emergency room of Hospital CUF Descobertas. The statistical analysis of the data was performed using SPSS version 16.0 and Microsoft Excel. The results of this study culminated with the identification of strong points, weak points, and suggestions for improvements for the work in study. ln this way, with this study, we can identify in where an organization finds itself and the path it should take in order to achieve a high level of quality excellence.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Tesis (Médico Veterinario). -- Universidad de La Salle. Facultad de Ciencias Agropecuarias. Programa de Medicina Veterinaria, 2014

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Utilizando la interfase entre la biología sintética y la nanotecnología, se propone el diseño de un material (bacteria), con sensibilidad optotérmica; es decir, que la sinergia entre la capacidad de las nanopartículas metálicas para convertir la luz absorbida en calor y la propiedad de respuesta térmica del termómetro de RNA, permitan una respuesta a la exposición de longitudes de onda concretas a nivel local, y además puedan ser controlados con el uso de incrementos globales en la temperatura del sistema, permitiendo con ello un precursor viable para el diseño posterior de nuevos agentes terapéuticos que actúen de forma específica y controlada. La metodología para construir los plásmidos incluyó métodos clásicos para su clonación (digestión, ligación y transformación), para la biosíntesis de AgNPs se trabajó con diferentes concentraciones de AgNO3, y cuatro cepas de Escherichia coli en fase log. Se comprobó la viabilidad de las cepas por medio de la técnica de la gota en superficie, así como la actividad del termosensor y expresión de la proteína mcherry.Contribuciones y Conclusiones: Se realizaron satisfactoriamente las transformaciones de Escherichia coli k

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Tese (doutorado)—Universidade de Brasília, Faculdade de Medicina, Programa de Pós-Graduação em Patologia Molecular, 2015.

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O género Equus teve origem na América do Norte e alguns exemplares migraram para a Eurásia pelo Estreito de Bering, durante a última glaciação. No fim da glaciação, todos os cavalos do continente americano extinguiram-se, mas sobreviveram nas estepes da Eurásia, na Peninsula lbérica e nas florestas da Europa Ocidental e Central. O cavalo Lusitano teve a sua origem em cavalos selvagens e domesticados da Peninsula lbérica, ocorrendo uma mistura com outros animais trazidos por eventos migratórios ocorridos no passado. Os cavalos deste gene pool contribuiram para o desenvolvimento de outras raças modernas na Europa e foram mais tarde introduzidos e dispersos pelo continente Americano, tornando-se fundadores de numerosas raças do novo mundo. A raça Lusitana é uma raça equina autóctone portuguesa, com especial relevancia económica no panorama nacional e internacional. Apesar de não ser uma raça ameaçada, alguns autores defendem que a informação genealógica disponivel (pedigrees) indica que uma utilização excessiva de um reduzido número de reprodutores machos esta a diminuir a diversidade genética da raça, tendo como consequência o aumento da consanguinidade e a diminuição do tamanho efetivo da população para cerca de metade dos valores recomendados pela FAO. No entanto, a anàlise da diversidade genética com base em 16 microssatélites (Marcadores de DNA) a um grupo de 2699 machos da raça Lusitana, nascidos entre 1985 e 2010 e inscritos como reprodutores no Livro Genealógico da raça, revelou um elevado nível de diversidade, idêntico ao encontrado na maioria das raças equinas. Dada a crescente relevância da Crioconservação, omo estratégia complementar para a conservação da diversidade genética in situ, e tendo em conta que não existe criopreservação de oocitos, embriões ou sémen, do cavalo de raça Lusitana em Banco de Genes, selecionaram-se 62 machos reprodutores (garanhões) com interesse genético para a criopreservação de sémen, quer no sentido de preservar a diversidade da raça quer no da salvaguardar em caso de calamidade; ABSTRACT: The genus Equus originated in North America and some exemplary migrated to Eurasia through the Bering Strait during the last glaciation. By the end of the last glaciation, all horses on the American continent became extinct but the genus survived in the steppes of Eurasia, in the Iberian Peninsula and on the Central and West Europe forests. The Lusitano horse breed has its origins in wild and domesticated horses of the Iberian Peninsula, where a mixture with other animals brought by migratory events in the past occurred. The horses of this gene pool contributed to the development of other modern breeds in Europe and were later introduced and spread throughout the American continent, becoming founders of numerous breeds of the New World. The Lusitano horse breed, is a Portuguese native equine breed, with special economic relevance in the national and international scene. Although not being an endangered breed, some authors argue that the available genealogical information (pedigrees) indicates that an excessive use of a limited number of stallions is decreasing the genetic diversity of the breed, resulting in the increase of inbreeding and on the decrease of the effective population size to about half of the values recommended by FAO. However, the analysis of genetic diversity based on 16 microsatellites (DNA markers) in a group of 2699 males of the Lusitano horse breed, born between 1985 and 2010 and registered as Stallions in the Studbook, revealed a high level of diversity similar to that found in the majority of equine breeds. Given the growing relevance of Cryopreservation as a complementary strategy for the conservation of genetic diversity in situ and, taking into consideration the inexistence of criopreservation for oocytes, embryos and semen, in a Gene Bank, for the Lusitano horse breed, 62 breeding males (stallions) with genetic interest for semen cryopreservation were selected in order either to preserve the diversity of the breed or as safeguard in case of calamity.

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A descrição do papel da medicina no Livro III da República pode facilmente deixar o leitor constrangido. O trecho defende que a medicina deveria se espelhar nas práticas do tempo de Asclépio. Neste tempo, a medicina tinha um papel político de não prolongar a vida dos cidadãos tomados pela doença, nem deixá-los procriar. Frente a estas declarações, surgiram várias interpretações que vão desde o totalitarismo de Popper até a ironia de Strauss. Para uma melhor compreensão do texto, seria necessária a interlocução com a medicina hipocrática e com as práticas médicas do tempo dos séculos V e IV aEN. Contudo, a passagem em questão não se reduz ao contexto histórico, mas apresenta uma crítica válida ainda na atualidade. _______________________________________________________________________________ ABSTRACT