758 resultados para alelos raros
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La falta de políticas nacionales de inversión en el fondo antiguo en la Argentina hace que la cifra de libros editados antes de 1800 y resguardados en las bibliotecas de nuestro país sea hoy "incalculable" (Fernández Rojo, 2008). Esta comunicación presenta las conclusiones obtenidas durante un trabajo de exploración llevado a cabo durante el año 2011 en el depósito general de la Biblioteca Pública de la Universidad Nacional de La Plata. Se expone una metodología sencilla para la identificación, descripción y registro fotográfico de libros antiguos dispersos en el depósito, por medio de la cual fue posible recobrar 88 documentos con fecha anterior a 1800 en los estantes de la colección general y obtener 682 fotografías, las cuales registraron encuadernaciones, ilustraciones, manuscritos, sellos, ex libris y el estado de conservación de los libros. El cotejo de los resultados con la información disponible en el OPAC y la búsqueda de los títulos en catálogos de libreros y bibliotecas nacionales demostraron el considerable valor económico y patrimonial de los documentos identificados. Por otro lado, esta tarea puso de manifiesto la escasa visibilidad que tienen estos materiales y las dificultades de acceso que presentan registros manuales o de carga mínima para la comunidad de investigadores y el público en general. Se ejemplifica el valor económico y patrimonial de este tipo de material con la descripción de algunos casos representativos, al mismo tiempo que se lista el conjunto de elementos que debe contener un registro bibliográfico para una efectiva recuperación de libros antiguos en el OPAC y su correcta identificación teniendo en cuenta los intereses posibles de investigadores
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La falta de políticas nacionales de inversión en el fondo antiguo en la Argentina hace que la cifra de libros editados antes de 1800 y resguardados en las bibliotecas de nuestro país sea hoy "incalculable" (Fernández Rojo, 2008). Esta comunicación presenta las conclusiones obtenidas durante un trabajo de exploración llevado a cabo durante el año 2011 en el depósito general de la Biblioteca Pública de la Universidad Nacional de La Plata. Se expone una metodología sencilla para la identificación, descripción y registro fotográfico de libros antiguos dispersos en el depósito, por medio de la cual fue posible recobrar 88 documentos con fecha anterior a 1800 en los estantes de la colección general y obtener 682 fotografías, las cuales registraron encuadernaciones, ilustraciones, manuscritos, sellos, ex libris y el estado de conservación de los libros. El cotejo de los resultados con la información disponible en el OPAC y la búsqueda de los títulos en catálogos de libreros y bibliotecas nacionales demostraron el considerable valor económico y patrimonial de los documentos identificados. Por otro lado, esta tarea puso de manifiesto la escasa visibilidad que tienen estos materiales y las dificultades de acceso que presentan registros manuales o de carga mínima para la comunidad de investigadores y el público en general. Se ejemplifica el valor económico y patrimonial de este tipo de material con la descripción de algunos casos representativos, al mismo tiempo que se lista el conjunto de elementos que debe contener un registro bibliográfico para una efectiva recuperación de libros antiguos en el OPAC y su correcta identificación teniendo en cuenta los intereses posibles de investigadores
Resumo:
La falta de políticas nacionales de inversión en el fondo antiguo en la Argentina hace que la cifra de libros editados antes de 1800 y resguardados en las bibliotecas de nuestro país sea hoy "incalculable" (Fernández Rojo, 2008). Esta comunicación presenta las conclusiones obtenidas durante un trabajo de exploración llevado a cabo durante el año 2011 en el depósito general de la Biblioteca Pública de la Universidad Nacional de La Plata. Se expone una metodología sencilla para la identificación, descripción y registro fotográfico de libros antiguos dispersos en el depósito, por medio de la cual fue posible recobrar 88 documentos con fecha anterior a 1800 en los estantes de la colección general y obtener 682 fotografías, las cuales registraron encuadernaciones, ilustraciones, manuscritos, sellos, ex libris y el estado de conservación de los libros. El cotejo de los resultados con la información disponible en el OPAC y la búsqueda de los títulos en catálogos de libreros y bibliotecas nacionales demostraron el considerable valor económico y patrimonial de los documentos identificados. Por otro lado, esta tarea puso de manifiesto la escasa visibilidad que tienen estos materiales y las dificultades de acceso que presentan registros manuales o de carga mínima para la comunidad de investigadores y el público en general. Se ejemplifica el valor económico y patrimonial de este tipo de material con la descripción de algunos casos representativos, al mismo tiempo que se lista el conjunto de elementos que debe contener un registro bibliográfico para una efectiva recuperación de libros antiguos en el OPAC y su correcta identificación teniendo en cuenta los intereses posibles de investigadores
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Esta dissertação apresenta um estudo exploratório sobre a experiência de implantação de um sistema digital de segurança. O estudo teve como locus a Guarda Civil Metropolitana de São Paulo e o objetivo geral da pesquisa é analisar o uso das tecnologias da informação e comunicação no campo operacional da organização. Primeiramente foi realizada a pesquisa bibliográfica para rastreamento de temas análogos. Foi possível verificar a escassez de estudos sobre as tecnologias da informação e comunicação na Segurança Pública no Brasil. Dos raros trabalhos encontrados o que deu inspiração para essa pesquisa foi o experimento realizado em Brasília, na área de Gestão do Conhecimento e da Tecnologia da Informação, que investigou a integração de sistemas de info rmações na Segurança Pública do Distrito Federal. Para a realização deste estudo de caso adotou-se a metodologia qualitativa com pesquisas bibliográfica, documental e de campo (entrevistas e observações diretas). Os resultados obtidos demonstram a necessidade de investimentos em tecnologias da informação e comunicação, objetivando a integração e a interoperabilidade das organizações de Segurança Pública. Os resultados também confirmaram os achados em pesquisas e estudos sobre a violência urbana que apontam que só os investimentos na estrutura técnica, em pessoal, em gestão de segurança, chamada política de combate à violência e à criminalidade, não resolve. É preciso urgência na gestão de políticas públicas integradas para combater as causas provocativas da violência e da criminalidade que são a miséria crescente, o desemprego, a falta de serviços públicos eficientes, em especial no setor da saúde e da educação e a ausência de políticas sociais, todos entendidos como violência.(AU)
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Armonía Somers (Uruguay 1917 - 1994) ha sido clasificada dentro de la llamada Generación del 45 de Uruguay, sin embargo, muchos críticos aseguran que su obra difiere de la estética del período en que escribió. Mientras Ángel Rama sugiere que la narrativa de Somers pertenece a la tradición de los raros y malditos, que desciende del extraño linaje del Conde franco-uruguayo y poeta Lautréamont, otros la colocan en el ámbito de la narrativa imaginativa y de lo fantástico. La crítica contemporánea se aproxima a la obra de Somers a partir del concepto de lo extraño o "Unheimlich", abordando las novelas de la autora desde una perspectiva freudiana, lacaniana o heideggeriana. No obstante, ninguna de estas investigaciones ha determinado a qué género u orientación literaria se aviene, ni han indagado en profundidad sobre su contribución a los estudios metaficcionales. ^ En esta tesis propongo que las novelas de Armonía Somers, "La mujer desnuda" (1950), "De miedo en miedo. Los manuscritos del río" (1965), "Un retrato para Dickens" (1969), "Viaje al corazón del día. Elegía por un amor secreto" (1986), y "Solo los elefantes encuentran mandrágora" (1986), transgreden los géneros y tendencias literarias dominantes en su época por medio de una imaginación excesiva y de una trama anti-dramática, asociada primordialmente con la experiencia del terror sublime y la representación de lo inexpresable o irrepresentable, ambas nociones correspondientes a la poética expresionista de vanguardia y al gótico postmoderno. Las novelas analizadas en este trabajo presentan en su estructura una amplia gama de formas ambiguas e inorgánicas, cuya función desestabiliza los aspectos formales del realismo y subvierte los postulados epistemológicos e ideológicos en que se apoyan las culturas afirmativas, las cuales legitiman solo cierto concepto de realidad, desentendiéndose del resto de las experiencia humanas que no encajan en sus esquemas. La desacralización, la disolución moral, la muerte simbólica y la naturaleza fluida de la identidad junto con una marcada autorreflexividad, son algunos de los temas más relevantes de este conjunto de obras, que he categorizado como un ejemplo del expresionismo gótico postmoderno del siglo XX.^
Resumo:
Armonía Somers (Uruguay 1917 – 1994) ha sido clasificada dentro de la llamada Generación del 45 de Uruguay, sin embargo, muchos críticos aseguran que su obra difiere de la estética del período en que escribió. Mientras Ángel Rama sugiere que la narrativa de Somers pertenece a la tradición de los raros y malditos, que desciende del extraño linaje del Conde franco-uruguayo y poeta Lautréamont, otros la colocan en el ámbito de la narrativa imaginativa y de lo fantástico. La crítica contemporánea se aproxima a la obra de Somers a partir del concepto de lo extraño o “Unheimlich”, abordando las novelas de la autora desde una perspectiva freudiana, lacaniana o heideggeriana. No obstante, ninguna de estas investigaciones ha determinado a qué género u orientación literaria se aviene, ni han indagado en profundidad sobre su contribución a los estudios metaficcionales. En esta tesis propongo que las novelas de Armonía Somers, “La mujer desnuda” (1950), “De miedo en miedo. Los manuscritos del río” (1965), “Un retrato para Dickens” (1969), “Viaje al corazón del día. Elegía por un amor secreto” (1986), y “Solo los elefantes encuentran mandrágora” (1986), transgreden los géneros y tendencias literarias dominantes en su época por medio de una imaginación excesiva y de una trama anti-dramática, asociada primordialmente con la experiencia del terror sublime y la representación de lo inexpresable o irrepresentable, ambas nociones correspondientes a la poética expresionista de vanguardia y al gótico postmoderno. Las novelas analizadas en este trabajo presentan en su estructura una amplia gama de formas ambiguas e inorgánicas, cuya función desestabiliza los aspectos formales del realismo y subvierte los postulados epistemológicos e ideológicos en que se apoyan las culturas afirmativas, las cuales legitiman solo cierto concepto de realidad, desentendiéndose del resto de las experiencia humanas que no encajan en sus esquemas. La desacralización, la disolución moral, la muerte simbólica y la naturaleza fluida de la identidad junto con una marcada autorreflexividad, son algunos de los temas más relevantes de este conjunto de obras, que he categorizado como un ejemplo del expresionismo gótico postmoderno del siglo XX.
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Petroleum exploration activity occurs on the offshore Potiguar Basin, from very shallow (2-3 m) until about 50 m water depth, extending from Alto de Touros (RN) to Alto de Fortaleza (CE). Take in account the biological importance and the heterogeneity of sediments on this area, it is necessary the understanding of the sedimentological dynamics, and mainly the changes generated by petroleum exploration to prevent possible damages to environment. Despite the intense activity of oil exploration in this area, research projects like these are still rare. In view to minimize this gap, this study was developed to evaluate sedimentological, mineralogical and geochemical changes in the vicinity of a exploration well, here designated as well A, located on the Middle continental shelf, near the transition to Outer shelf. The well selected for this study was the first one drilled with Riserless Mud Recovery technology (RMR) in Brazil. The main difference from this to the conventional method is the possibility of drilling phase I of the well with return of drilling material to the rig tank, minimizing fluid and gravel discharging around the vicinity, during this phase. Monitoring consisted of three surveys, first of them done before start drilling, the second one done 19 days after the end of drilling and the third one done one year after then. Comparison of the studied variables (calcium carbonate and organic matter content, sediment size, mineralogy and geochemistry) was done with their average, median and coefficient of variation values to understand the changes after drilling activity. Because operating company technical reasons, the well location was changed after the first survey (C1), resulting in a shift of the sampled area on the two last surveys (C2 e C3). Nevertheless, the acquired data presented a good correlation, with no loss to the mean goal of the study. The sedimentological, mineralogical and geochemical analyzes were done at Federal University of Rio Grande do Norte (UFRN). The results indicated a predominantly sandy environment along the three surveys. It was noticed that the first survey (C1), presented different values for all the studied variables than to the second (C2) and third (C3) surveys, which had similar values. Siliciclastic sediments are prevalent at all surveys, and quartz is the main component (more than 80%). Heavy minerals (garnet, turmaline, zircon and lmenite), rock fragments and mud aggregates also was described. Bioclastic sediments are dominated by coralline algae (more than 45%) and mollusks (more than 30%), followed by benthic foraminifera, bryozoans and worm tubes. More rarely was observed ostracoda and spike of calcareous sponge. Because the low changes of the sediments at the studied area and by the using of RMR method in the drilling, it was possible to conclude that drilling activity did not promote significant alteration on the local sediment cover. Changes in the studied variables before and after drilling activity could be influenced by the changing in the sampling area after survey 1 (C1).
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Neurodegenerative diseases are frequently studied due to the increasing number of cases associated with the populational ageing and to the impact on the conditions on the quality of life. Parkinson’s disease (DP) is the second most frequent neurodegenerative disease. Despite the fact that its etiology is not completely understood, it is known that DP is caused by environmental and genetic factors. Thus, the investigation of etiologic factors and mechanisms responsible for the changes that lead to DP may help early diagnostic and prevention. A possible association between DP and the common polymorphism of Brain Derived Neurotrophic Factor (BDNF) G196A (Val66Met) has been suggested by different studies with contrasting results. For this reason, the aim of this study is to investigate if the BDNF Val66Met polymorphism is related to susceptibility to DP in a cohort of Brazilian patients. Additionaly, we verify if the presence of the polymorphism implies in alterations in the BDNF whole blood concentrations, as well as variations in symptomatology. The sample comprised Brazilian patients accompanied by the neurology service of the Onofre Lopes University Hospital (HUOL) and healthy controls (CTRL). The motor aspects of DP were evaluated by Hoehn e Yahr Scale (HY), Unified Parkinson’s Disease Rating Scale (UPDRS) and Schwab & England Scale (SE). For the evaluation of non-motor symptoms were used the following instruments: Frontal Assessment Battery (BAF), Mini-Mental State Examination (MEEM), Beck Depression Inventory (IDB) and the Beck Anxiety Inventory (IAB). Blood samples were collected for BDNF Val66Met polymorphism genotyping and BDNF whole blood measurement. As expected, DP patients performed worse in motor, cognitive and emotional battery of questionnaires. Alleles distribution between DP and CTRL was not significantly different, but the A/G genotype was significantly associated with a protector factor for DP. In contrast, the G/G genotype was significantly associated with depression and anxiety development in DP patients. However, BDNF concentrations were not different between genotypes or groups. This is the first study of genetic association of this polymorphism with DP in Brazilian subjects and the first one that associate A/G genotype with protection against DP.
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Introduction. Guillain-Barré syndrome (GBS) is an immune-mediated polyneuropathy and the principal cause of acute neuromuscular paralysis. The most prominent GBS subtypes are: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), acute motor-sensory axonal neuropathy (AMSAN) and Fisher syndrome (FS). Differences in geographical distribution of variants have been reported. In Brazil, there are few studies describing the characteristics of GBS, but none on the frequency of GBS variants and their clinical manifestations. Infection-induced aberrant immune response resulting from molecular mimicry and formation of cross-reacting antibodies, contribute to complement activation. Functional biallelic polymorphism in immunoglobulin receptors that influence the affinity of IgG subclasses and the type of immune response have been described, suggesting genetic susceptibility to developing disease. It remains unclear whether individuals carrying different FCGR alleles have differential risk for GBS and⁄or disease severity. The goals of this study were: (1) To characterize GBS and describe the clinical findings in a cohort of patients with GBS from the state of Rio Grande do Norte, Brazil; (2) to determine whether polymorphism in FCGR were associated with development of GBS, and (3) to tease out whether the global gene expression studies could be a tool to identify pathways and transcriptional networks which could be regulated and decrease the time of disease. Methods. Clinical and laboratory data for 149 cases of GBS diagnosed from 1994 to 2013 were analyzed. Genomic DNA and total RNA were extracted from whole blood. Antigangliosides antibodies were determined in the sera. In addition, we also assessed whether FCGR polymorphism are present in GBS (n=141) and blood donors (n=364), and global gene expressions were determined for 12 participants with GBS. Blood samples were collected at the diagnosis and post-recovery. Results. AIDP was the most frequent variant (81.8%) of GBS, followed by AMAN (14.7%) and AMSAN (3.3%). The incidence of GBS was 0.3 ⁄ 100,000 people for the state of Rio Grande do Norte and cases occurred at a younger age. GBS was preceded by infections, with the axonal variant associated with episodes of diarrhea (P = 0.025). Proximal weakness was more frequent in AIDP, and distal weakness predominant in the axonal variant. Compared to 42.4% of cases with AIDP (P<0.0001), 84.6% of cases with the axonal variant had nadir in <10 days. Individuals with the axonal variant took longer to recover deambulation (P<0.0001). The mortality of GBS was 5.3%. A worse outcome was related to an axonal variant (OR17.063; P=0.03) and time required to improve one point in the Hughes functional scale (OR 1.028; P=0.03). The FCGR genotypes and allele frequencies did not differ significantly between the patients with GBS and the controls (FCGR2A p=0.367 and FCGR3A p=0.2430). Global gene expression using RNAseq showed variation in transcript coding for protein isoforms during acute phase of disease. Conclusions. The annual incidence of GBS was 0.3 per 100,00 and there was no seasonal pattern. A predominance of the AIDP variant was seen, and the incidence of the disease decreased with age. The distribution of weakness is a function of the clinical variants, and individuals with the axonal variant had a poorer prognosis. Early diagnosis and variant identification leads to proper intervention decreasing in long-term morbidity. FCGR polymorphisms do not seem to influence susceptibility to GBS in this population. This study found deregulated genes and signs of transcriptional network alterations during the acute and recovery phases in GBS. Identification of pathways altered during disease might be target for immune regulation and with potential to ameliorate symptoms.
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Introduction: Kinesio Taping (KT) has been used in healthy people to improve neuromuscular performance, however, few studies have evaluated its chronic effects, despite being suggested. Objective: To analyze the chronic effects of KT on neuromuscular performance of the quadriceps, the oscillation of the center of pressure and lower limb function in healthy women. Methods: blinded, randomized, controlled trial, composed of 60 women (mean age 21.9 ± 3.3 years and BMI 22.3 ± 2.2 kg / m2) submitted to the evaluation of oscillation of the center of pressure through the baropodometry, the lower limb function by the hop test, isokinetic knee performance, the electromyographic activity of the vastus lateralis (VL) and joint position sense of the knee (JPS). Then, participants were randomly divided into three groups of twenty: control - did not apply the KT; placebo - application of KT without tension on the quadriceps; Kinesio Taping - application of KT with tension in the same muscle group. The evaluations were conducted in five moments: prior to application of KT, immediately after the application, 24h, 48h after application and 24 hours after its removal (72h). SPSS 20.0 was used for statistical analysis. The KS test was used to verify the data normality, the Levene test for homogeneity of variances and a mixed-model ANOVA 3x5 to check intra and inter-group differences. Results: there was no difference in peak torque, the power, nor the electromyographic activity or SPA (p> 0.05) between groups. The displacement speed of center of pressure reduced immediately after the application on kinesio taping group (p <0.001), but with no differences between the groups (p = 0.28). There was a reduction in the time of peak torque among the three groups in the evaluations after KT application (p <0.001) and an increase in single hop in all groups (p <0.001), but with no differences between them. Conclusion: KT can not change, in a chronic way, the lower limb function, the oscillation of the center of pressure, the isokinetic performance, the JPS of the knee and the electromyographic activity of VL muscle in healthy women.
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OBJETIVOS El objetivo principal de esta tesis doctoral consiste en determinar la presencia de la proteína HLA-G en la superficie celular de células madre CD34/CD133, células dendríticas mieloides y plasmacitoides, células dendríticas derivadas de células CD34/CD133 y derivadas de monocitos de sangre de cordón umbilical y sangre periférica materna, por técnicas de citometría de flujo y la expresión de la proteína HLA-G soluble en plasma de sangre de cordón umbilical por técnicas de ELISA. MATERIALES Y METODOS Se obtuvo un total de 35 unidades de sangre de cordón umbilical y 35 muestras de sangre periférica de gestantes a término que acudieron al Servicio de Ginecología y Obstetricia del Hospital Clínico Universitario San Carlos con cesáreas programadas, según aprobación de Comité Ético. Se realizaron técnicas de cultivo celular, citometría de flujo, Elisa y anticuerpos monoclonales, según protocolo, para la obtención de las células madre CD34+, células dendríticas mieloides y plasmacitoides del cordón umbilical y células dendríticas derivadas de células madre CD34+, y determinación de la molécula HLA-G, isoformas, nuevos alelos y polimorfismos...
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Entre los modelos literarios que, en las epopeyas quinientistas acerca de la conquista de México, sirven para dar forma épica a la materia histórica tomada de las crónicas, la Eneida de Virgilio desempeña un papel fundamental. En el presente artículo se pretende mostrar cómo la identificación de Jerónimo de Aguilar con el Aqueménides virgiliano, que se encuentra por primera vez en el Carlo famoso de Luis Zapata, reaparece en Francisco de Terrazas, en Gabriel Lobo Lasso de la Vega y en Antonio de Saavedra Guzmán, así como proponer algunas consideraciones acerca de las relaciones que se hayan podido dar entre las obras de estos poetas.
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Este artículo pretende desvelar datos inéditos de Francisco de Quintana, escritor del seiscientos escasamente estudiado por la crítica literaria hasta nuestros días. La investigación, a partir tanto de fuentes primarias como de su obra literaria, ha supuesto el hallazgo de información sustancial sobre este íntimo amigo de Lope de Vega. Además de aportar nuevos testimonios biográficos, esta comunicación interrelaciona acontecimientos fundamentales de su vida con su obra literaria.
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Neste trabalho objetivou-se verificar, teoricamente , a possibilidade de manutenção de heterozigotos, em populações de plantas autógamas, na presença e na ausência de seleção dependente de frequência (SDF). Considerou-se apenas um loco com dois alelos. Utilizou-se a dedução algébrica de formulas referentes a alguns modelos de populações e um programa para simular a sucessão das gerações em uma calculadora científica avançada. Comparou-se os resultados do modelo com os dados obtidos experimentalmente por Allard e Workman (1963) e por Harding, Allard e Smeltzer (1966). Os coeficientes de determinação foram 0,9653 e 0,9166 para a primeira e a segunda comparação, respectivamente. Estes coeficientes indicam que o modelo D representa de modo bastante fidedigno as variações observadas em populações experimentais de plantas predominantemente autógamas
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Ethics on scientific research is approached and often discussed in several areas of knowledge connected to health. In the Administration area there are very few studies which approach the topic of ethics on research. The present paper tried to fill in this gap in the production of knowledge about the topic, investigating how the ethical principles found in the literature and in the codes of conduct are noticed and taken into account in Administration research activities developed by acting researchers in Administration Post Graduation Programs. Theoretically speaking, the study was based mainly on the approaches by Creswell (2007) and Bell and Bryman (2007), which discuss the research ethical principles. Methodologically speaking it was all about an exploratory kind of study, with qualitative research approach. Upon data collection, personal interviews were made aiming at its depth and focus groups were formed. The first stage had interviews with four experienced researchers who took part on a teaching and researching event and on the second stage we used the focus group technique. The focus groups were done in four college institutions along with the post graduation programs in Administration in the states of Rio Grande do Norte, Paraíba and Pernambuco, in Brazil. The results suggest the existence of general principles and parameters for the scientific research recommended in the literature and on official resolution. However, in the Administration area, there are only a few recommendations of good practices when it comes to submitting articles for scientific publications but we found no guidance with ethical principles and parameters which cover all the activities in the scientific research and which specifically meet the research particularities in Administration. The main ethical dilemma pointed by the researchers refers to ethical questions which arise at the time of data collection and on disclosing the results. Most researchers do not know the guidelines and the ethical norms on ethics about research that we have in our country neither do they send in their projects to the research ethics committee. When dilemma arises, they decide the ethical question based on their values and common sense. These elements confirm the thesis that the researcher s procedure in the research activities in Administration is predominantly signed by personal values or by common sense and less by ethical principles, whether by not knowing the normative instruments related to ethics or by disagreeing with any disciplining rules on ethical behavior in the research