971 resultados para conical whirl instability
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This paper conducts a dynamic stability analysis of symmetrically laminated FGM rectangular plates with general out-of-plane supporting conditions, subjected to a uniaxial periodic in-plane load and undergoing uniform temperature change. Theoretical formulations are based on Reddy's third-order shear deformation plate theory, and account for the temperature dependence of material properties. A semi-analytical Galerkin-differential quadrature approach is employed to convert the governing equations into a linear system of Mathieu-Hill equations from which the boundary points on the unstable regions are determined by Bolotin's method. Free vibration and bifurcation buckling are also discussed as subset problems. Numerical results are presented in both dimensionless tabular and graphical forms for laminated plates with FGM layers made of silicon nitride and stainless steel. The influences of various parameters such as material composition, layer thickness ratio, temperature change, static load level, boundary constraints on the dynamic stability, buckling and vibration frequencies are examined in detail through parametric studies.
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Arguably the most complex conical functions are seated in human cognition, the how and why of which have been debated for centuries by theologians, philosophers and scientists alike. In his best-selling book, An Astonishing Hypothesis: A Scientific Search for the Soul, Francis Crick refined the view that these qualities are determined solely by cortical cells and circuitry. Put simply, cognition is nothing more, or less, than a biological function. Accepting this to be the case, it should be possible to identify the mechanisms that subserve cognitive processing. Since the pioneering studies of Lorent de No and Hebb, and the more recent studies of Fuster, Miller and Goldman-Rakic, to mention but a few, much attention has been focused on the role of persistent neural activity in cognitive processes. Application of modern technologies and modelling techniques has led to new hypotheses about the mechanisms of persistent activity. Here I focus on how regional variations in the pyramidal cell phenotype may determine the complexity of cortical circuitry and, in turn, influence neural activity. Data obtained from thousands of individually injected pyramidal cells in sensory, motor, association and executive cortex reveal marked differences in the numbers of putative excitatory inputs received by these cells. Pyramidal cells in prefrontal cortex have, on average, up to 23 times more dendritic spines than those in the primary visual area. I propose that without these specializations in the structure of pyramidal cells, and the circuits they form, human cognitive processing would not have evolved to its present state. I also present data from both New World and Old World monkeys that show varying degrees of complexity in the pyramidal cell phenotype in their prefrontal cortices, suggesting that cortical circuitry and, thus, cognitive styles are evolving independently in different species.
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A review of spontaneous rupture in thin films with tangentially immobile interfaces is presented that emphasizes the theoretical developments of film drainage and corrugation growth through the linearization of lubrication theory in a cylindrical geometry. Spontaneous rupture occurs when corrugations from adjacent interfaces become unstable and grow to a critical thickness. A corrugated interface is composed of a number of waveforms and each waveform becomes unstable at a unique transition thickness. The onset of instability occurs at the maximum transition thickness, and it is shown that only upper and lower bounds of this thickness can be predicted from linear stability analysis. The upper bound is equivalent to the Freakel criterion and is obtained from the zeroth order approximation of the H-3 term in the evolution equation. This criterion is determined solely by the film radius, interfacial tension and Hamaker constant. The lower bound is obtained from the first order approximation of the H-3 term in the evolution equation and is dependent on the film thinning velocity A semi-empirical equation, referred to as the MTR equation, is obtained by combining the drainage theory of Manev et al. [J. Dispersion Sci. Technol., 18 (1997) 769] and the experimental measurements of Radoev et al. [J. Colloid Interface Sci. 95 (1983) 254] and is shown to provide accurate predictions of film thinning velocity near the critical thickness of rupture. The MTR equation permits the prediction of the lower bound of the maximum transition thickness based entirely on film radius, Plateau border radius, interfacial tension, temperature and Hamaker constant. The MTR equation extrapolates to Reynolds equation under conditions when the Plateau border pressure is small, which provides a lower bound for the maximum transition thickness that is equivalent to the criterion of Gumerman and Homsy [Chem. Eng. Commun. 2 (1975) 27]. The relative accuracy of either bound is thought to be dependent on the amplitude of the hydrodynamic corrugations, and a semiempirical correlation is also obtained that permits the amplitude to be calculated as a function of the upper and lower bound of the maximum transition thickness. The relationship between the evolving theoretical developments is demonstrated by three film thickness master curves, which reduce to simple analytical expressions under limiting conditions when the drainage pressure drop is controlled by either the Plateau border capillary pressure or the van der Waals disjoining pressure. The master curves simplify solution of the various theoretical predictions enormously over the entire range of the linear approximation. Finally, it is shown that when the Frenkel criterion is used to assess film stability, recent studies reach conclusions that are contrary to the relevance of spontaneous rupture as a cell-opening mechanism in foams. (C) 2003 Elsevier Science B.V. All rights reserved.
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Evidence for nearly synchronous climate oscillations during the last deglaciation has been found throughout the Northern Hemisphere but few records are based on independent time scales of calendar years. We present a rare uranium-series dated oxygen-carbon isotope record for a speleothem from Tangshan Cave, China, which demonstrates that abrupt deglacial climatic oscillations from 16 800 to 10 500 yr BP are semi-synchronous with those found in Greenland ice core records. Relatively rapid shifts in speleothem oxygen isotope ratios demonstrate that the intensity of the East Asian monsoon switched in parallel with the abrupt transitions separating the Bolling-Allerod, Younger Dryas, and pre-Boreal climatic reversals. However, the dated isotopic transitions appear to have lasted longer. Our results demonstrate the dominant role of atmospheric teleconnections in the rapid propagation of deglacial climatic signals on a hemispheric scale, and highlight the importance of U-series dated speleothems in the timing and characterization of abrupt climate change. (C) 2003 Elsevier B.V. All rights reserved.
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The objective of this paper is to definite Historicity in Economic Sciences applying the principles of Entropy and methodological indeterminism. This implies the definition of two kinds of economic universes: one characterized by ergodicity and reversibility of Time and processes and the other by the opposite properties. The first part will deal with the construction of the subject of study and the nature of the proper analysis to these two universes. Taking such dichotomy into account, the second part will examine its implications as regards to the nature of equilibrium, the properties of stability and instability and the closure of the systems.
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Diante do colapso financeiro de 2008, este trabalho retoma a teoria econômica proposta por Hyman P. Minsky com o objetivo de esclarecer as circunstâncias que propiciaram uma crise financeira tão profunda. A estrutura analítica de Minsky é marcada pela Hipótese da Instabilidade Financeira, a qual aponta para fatores endógenos ao próprio sistema capitalista como o principal causador de instabilidades financeiras. Este processo, caracterizado principalmente por um avanço desfavorável no nível de endividamento dos agentes, constrói um ciclo de estágios que pode se desenvolver para uma crise financeira ou um colapso sistêmico, definidos como “Momento Minsky” e “Colapso Minsky”. Este cenário descrito por Minsky, também analisado à luz de teorias mais recentes como as de Gary A. Dymski e Alessandro Vercelli, é conhecido por “ciclo minskyano”. Ao adotar estes preceitos da análise teórica de Minsky, é possível visualizar como o processo de desregulamentação e fragilização financeira dos Estados Unidos nas décadas de 1980 e 1990 proveram condições para a crise do subprime e, posteriormente, o colapso financeiro de 2008. De maneira similar, é possível observar que a análise teórica de Minsky também é aplicável à crise que afeta a economia brasileira no final de 2008. A fragilização financeira que se inicia no Brasil poucos anos antes da crise, acentuada no setor exportador de commodities, cria a condição para o “momento Minsky brasileiro”, demonstrando que apesar das falhas da análise teórica de Minsky, que supõe uma economia fechada com características da economia estadunidense, é possível visualizar uma relação de causa e efeito da recente crise financeira com a teoria minskyana.
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As vigas mistas de aço e concreto estão sendo largamente utilizadas em construções de edifícios e pontes. Ao se combinar o aço com o concreto obtêm-se estruturas mais econômicas, uma vez que se tira proveito das melhores características de cada material. Nas regiões de momento negativo de uma viga mista contínua, a mesa inferior e parte da alma estão comprimidas, se a alma do perfil não tiver rigidez suficiente para evitar a flexão lateral, ela distorcerá gerando um deslocamento lateral e um giro na mesa comprimida, caracterizando um modo de flambagem denominado flambagem lateral com distorção (FLD). O procedimento de verificação à FLD da EN 1994-1-1:2004 originou o método de cálculo da ABNT NBR 8800:2008, entretanto a EN 1994-1-1:2004 não fornece expressão para o cálculo do momento crítico elástico, enquanto a ABNT NBR 8800:2008 prescreve uma formulação proposta por Roik, Hanswille e Kina (1990) desenvolvida para vigas mistas com perfis de alma plana. Embora as normas prescrevam um método de verificação à FLD para vigas mistas com perfis de alma plana, poucos estudos têm sido feitos sobre esse estado-limite. Além disso, tanto a ABNT NBR 8800:2008 quanto as normas internacionais não abordam perfis de alma senoidal. Neste trabalho, foram implementadas análises de flambagem elástica, com auxílio do software ANSYS 14.0 (2011), em modelos de elementos finitos que retratem o comportamento à FLD de vigas mistas de aço e concreto com perfis de alma plana e senoidal. Os modelos numéricos foram constituídos pelo perfil de aço, por uma mola rotacional que restringe parcialmente o giro da mesa superior e uma restrição ao deslocamento lateral, ao longo de todo o comprimento da viga. Os resultados numéricos são comparados com os obtidos pelas formulações de Roik, Hanswille e Kina (1990) e de Hanswille (2002), adaptadas para levar em consideração a corrugação da alma do perfil de aço. Para avaliação das formulações supracitadas e da consistência da modelagem numérica adotada, o momento crítico elástico foi determinado para vigas mistas com perfis de aço de alma plana. Como resultado, um método para o cálculo do momento crítico elástico de vigas mistas de alma senoidal é proposto.
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O escopo deste trabalho buscou compreender as percepções de mulheres que passaram pela decisão do aborto provocadona Microrregião de São Mateus (norte do estado do Espírito Santo, Brasil), a partir do percurso e das interações que se sustentaram nesse processo. Foram realizadas entrevistas com roteiro semiestruturado com sete mulheres sobre essa experiência no ambiente domiciliar dos sujeitos do presente estudo. Os dados foram colhidos em entrevistas abertas e foram analisados à luz do referencial teórico de autores que discorrem acerca do tema e também acerca da ciência bioética.O estudo apresenta seis categorias: O aborto na perspectiva da decisão íntima; o aborto como fonte de revelações de sentimentos; o contemplar peremptório da atitude;técnicas empregadas na intencionalidade e no ato de abortar; sustentando a decisão pelas relações comunitárias; e conteúdos e confidências femininas. A experiência das mulheres foi marcada poruma diversidade de sentimentos, como tristeza, culpa, arrependimento, desespero e dor emocional, todavia, também, pelo alívio com o fim da gravidez e do risco de morte. Angústia adicional foi condicionadaa partir da percepção de fatores contribuintes da decisão, como falta de condições financeiras, falta de apoio da família ou do parceiro e instabilidade no relacionamento com parceiro. Este estudo também sinalizou que o caráter cultural e histórico da gestação, no sentido da norma social, faz-se presente nas mulheres que vivenciam o aborto provocado; demonstrou que as mulheres do presente estudo encontram-se à margem das políticas públicas e de saúde; assinalou que os programas de planejamento familiar ou de saúde reprodutiva deveriam ser estruturados de forma a ajudar também a lidar com problemas de destituição social, econômica e educacional dessa população vulnerada, no sentido de que essas mulheres ultrapassem a proteção social básica e sejam amparadas por serviços de saúde, que constituam espaços equânimes de escuta, orientação e resolução.
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The importance of intangible resources has increased dramatically in recent years comparing to tangible ones. The economy in which we live is the result of competitive pressures that have imposed the implementation of business at an international level as well as a requirement in the application of sophisticated technologies that allow us to follow this fast evolution. In this age of information and innovation organizations will only survive if they are inserted in a global network of strategic relations, generically called as the network economy by Lev (2003). The service sector has stood out against the more traditional sectors of the economy. The intensive use of knowledge and a strong customer orientation created a new reality in today’s organizations: a growing importance attached to innovation, to the quality of products and services offered, to the information and communication technologies adopted, and to the creativity and particular abilities of human resources. The concept of intangible assets is more common in an accounting language and intellectual capital is most often applied in the context of management, being associated with a more comprehensive, multidimensional approach, representing all the knowledge that the institution owns and that it applies in the form of expertise, the creativity and organizational competencies that lead to innovation and to the sustained attainment of future economic benefits. An analysis of the scope of intellectual capital is fundamental to take more appropriate management decisions so that a more appropriate accounting treatment could be given by the accounting standardization organizations. This study intends to analyse the practices of information disclosure of the intellectual capital in the banking sector in Portugal, complementing the analysis of the disclosure of intangible assets in the context of accounting standards with the disclosure of intellectual capital in the context of organizational management. In particular, our main aims are to identify the extent of disclosure of intellectual capital made by banks in Portugal and also to identify the factors that determine such a disclosure. The disclosure in the context of accounting standards will be studied by checking the disclosure of intangible assets through the items listed in the International Accounting Standard 38 developed by the International Accounting Standards Board. The context of management was analysed by means of creating a voluntary disclosure index based on assumptions of the model Intellectus, developed by the Centro de Investigación sobre la Sociedad del Conocimiento – Instituto de Administración de Empresas (CIC-IADE) of the Universidad Autónoma of Madrid, and of the model Intellectual Capital Statement (made in Europe) (InCaS), both promoted by the European Commission and that we have adapted to the banking sector. When analysing the disclosure of intangible assets based on the context of accounting standards and the voluntary disclosure of intellectual capital, this study has tried to raise awareness about the importance of issuing reports on the intellectual capital as an alternative tool to take management decisions in the existing organizations and reflects the transparency and legitimacy that these institutions seek through a more extensive and more detailed information disclosure of their intellectual capital. Based on a complimentarily of economic theories, together with social and political theories, we tried to check the extent, evolution and tendencies of the compulsory disclosure of intangible assets and of the voluntary disclosure of the intellectual capital analysed in the period 2001-2011. Banks characteristics were also analysed in order to deduce those factors that determine or promote a larger disclosure in this sector. Based on these objectives, we adopted a longitudinal approach to explore the extent and the development of the disclosure of intangible assets as well as the factors that have determined it. Furthermore, we sought to assess the impact of the adoption of IAS 38 in the financial statements of the organizations in this sector. The disclosure index created on the basis of the disclosure requirements stated in IAS 38 from IASB was applied to the consolidated financial statements of the seventeen banks that rendered their statements in Portugal from 2001 to 2009. Since the information disclosed in the context of accounting standards may not have an important role as a management tool once it was not able to reflect what really contributes to the competitiveness and organizational growth, the voluntary disclosure of the intellectual capital was analysed according to the information obtained from the 2010 annual individual reports of the banks operating in Portugal in that year and from their respective websites in 2011. We tried to analyse the extent of the voluntary disclosure of the intellectual capital and of each of its components, human capital, structural capital and relational capital. The comparative analysis of their annual reports and their web pages allowed us to assess the incidence of the disclosure and discover what channel the banking sector focuses on when disclosing their intellectual capital. Also in this analysis the study of the disclosure determinants has allowed us to conclude about the influence of particular characteristics in the voluntary disclosure of the intellectual capital. The results of the analysis to the extent of the disclosure of intangible assets in the consolidated financial statements of the banking groups in Portugal in the period 2001-2009 have shown an average information disclosure of 0.24. This information disclosure evolved from an average value of 0.1940 in 2001 to 0.2778 in 2009. The average value is 0.8286 if it is only considered the disclosure of the intangible assets that the banks possessed. The evolution of this index means an increase in the average disclosure from 0.7852 in 2001 to 0.8788 in 2009. From the first results that are related to the extent of the disclosure of intangible assets in the financial statements, we can verify that the banking groups present a low disclosure level of these resources. However, when considering the disclosure of only the intangible assets that each institution owns, the disclosure level appears to be in compliance with the disclosure requirements for this sector. An evolution in the disclosure of intangible assets for the period considered was confirmed, showing an increase in the information disclosure of intangible assets in 2005, the year in which the accounting rules for intangible assets changed. The analysis that focused on the disclosure in the context of management tried to understand the extent, the incidence and the determinants of the voluntary information disclosure of intellectual capital in the annual reports of 2010 and on their web pages in 2011, studying the 32 banks operating in Portugal in this period. The average voluntary disclosure of the intellectual capital in the 2010 annual reports is 0.4342 while that in web pages is 0.2907. A review of the components of the intellectual capital allowed us to assess the importance that the banks confer to each of these components. The data obtained show that the relational capital, and more specifically the business capital, is the most disclosed component by banks in Portugal both in the annual reports and in their institutional web pages, followed by the structural capital and, finally, by the human capital. The disclosure of the human capital and the structural capital is higher in the annual reports than that in the websites, while the relational capital is more disclosed in the websites than in the annual reports. The results have also shown that the banks make a complementary use of both sources when disclosing information about their structural capital and relational capital but they do not show any information about their human capital in their websites. We tried to prove the influence of factors that could determine the accounting disclosure and the voluntary disclosure of the intellectual capital in this sector. The change in the IASB accounting rules as from January 1st 2005 gave a greater disclosure of accounting information of intangible assets in the financial statements of banks. The bank size and corporate governance measures have statistically proved to have an influence on the extent of the accounting disclosure of intangible assets and on the voluntary disclosure of the intellectual capital. Economic and financial variables such as profitability, operating efficiency or solvency were not determinants of information disclosure. The instability that the banking sector has experienced in economic and financial indicators in recent years as a result of the global financial markets imbalance has worsen indicators such as profitability, efficiency and solvency and caused major discrepancies in the economic situation between banks in Portugal. This empirical analysis has contributed to confront the disclosure required by accounting rules performed in the financial statements of organizations with that performed in the main disclosure media which is available for entities and which is increasingly requested in the process of taking management decisions. It also allowed us to verify whether there is homogeneity between institutions in the fulfilment of the requirements for information disclosure of intangible assets. However, as for voluntary disclosure of intellectual capital, there are large disparities in the disclosure extent between organizations. Regardless of this sector specific characteristics, the voluntary disclosure of intellectual capital made by banks in Portugal follows the trends in other sectors and the practices adopted in other countries, namely regarding the amount of information disclosed, the incidence of the disclosure on the indicators of relational capital and the importance of variables such as size as determinants of disclosure of intellectual capital. For a further knowledge in this field, we created a specific index for the banking sector, considering appropriate indicators for an incisive, comprehensive analysis in order to consider the most relevant indicators of intellectual capital components. Besides, confronting the analysis of disclosure in the context of accounting standards with the study of voluntary disclosure brought a new analysis approach to the research on intellectual capital disclosure. With this study, we have also intended to raise greater awareness of the need for harmonization in the intellectual capital disclosure on the part of the regulatory banking authority by means of a demanding, consistent and transparent report of intellectual capital with simple, clear, objective indicators so that those interested in disclosing intellectual capital information in the organizations in this sector may obtain more harmonized and comparable information. A research on the disclosure quality of intellectual capital, together with the application of other analysis methodologies in this sector, might be a promising approach for future research. Applying the voluntary disclosure index to the same sector in other countries may also contribute to the knowledge of disclosure practices in different geographical environments. We highlight the relevance of further studies contributing to the harmonization and consistency in the presentation of an intellectual capital report so as to enable organizations to disclose the resources that contribute most to their competitiveness and growth.
Resumo:
In the past thirty years, a series of plans have been developed by successive Brazilian governments in a continuing effort to maximize the nation's resources for economic and social growth. This planning history has been quantitatively rich but qualitatively poor. The disjunction has stimulated Professor Mello e Souza to address himself to the problem of national planning and to offer some criticisms of Brazilian planning experience. Though political instability has obviously been a factor promoting discontinuity, his criticisms are aimed at the attitudes and strategic concepts which have sought to link planning to national goals and administration. He criticizes the fascination with techniques and plans to the exclusion of proper diagnosis of the socio-political reality, developing instruments to coordinate and carry out objectives, and creating an administrative structure centralized enough to make national decisions and decentralized enough to perform on the basis of those decisions. Thus, fixed, quantified objectives abound while the problem of functioning mechanisms for the coordinated, rational use of resources has been left unattended. Although his interest and criticism are focused on the process and experience of national planning, he recognized variation in the level and results of Brazilian planning. National plans have failed due to faulty conception of the function of planning. Sectorial plans, save in the sector of the petroleum industry under government responsibility, ha e not succeeded in overcoming the problems of formulation and execution thereby repeating old technical errors. Planning for the private sector has a somewhat brighter history due to the use of Grupos Executivos which has enabled the planning process to transcend the formalism and tradition-bound attitudes of the regular bureaucracy. Regional planning offers two relatively successful experiences, Sudene and the strategy of the regionally oriented autarchy. Thus, planning history in Brazil is not entirely black but a certain shade of grey. The major part of the article, however, is devoted to a descriptive analysis of the national planning experience. The plans included in this analysis are: The Works and Equipment Plan (POE); The Health, Food, Transportation and Energy Plan (Salte); The Program of Goals; The Trienal Plan of Economic and Social Development; and the Plan of Governmental Economic Action (Paeg). Using these five plans for his historical experience the author sets out a series of errors of formulation and execution by which he analyzes that experience. With respect to formulation, he speaks of a lack of elaboration of programs and projects, of coordination among diverse goals, and of provision of qualified staff and techniques. He mentions the absence of the definition of resources necessary to the financing of the plan and the inadequate quantification of sectorial and national goals due to the lack of reliable statistical information. Finally, he notes the failure to coordinate the annual budget with the multi-year plans. He sees the problems of execution as beginning in the absence of coordination between the various sectors of the public administration, the failure to develop an operative system of decentralization, the absence of any system of financial and fiscal control over execution, the difficulties imposed by the system of public accounting, and the absence of an adequate program of allocation for the liberation of resources. He ends by pointing to the failure to develop and use an integrated system of political economic tools in a mode compatible with the objective of the plans. The body of the article analyzes national planning experience in Brazil using these lists of errors as rough model of criticism. Several conclusions emerge from this analysis with regard to planning in Brazil and in developing countries, in general. Plans have generally been of little avail in Brazil because of the lack of a continuous, bureaucratized (in the Weberian sense) planning organization set in an instrumentally suitable administrative structure and based on thorough diagnoses of socio-economic conditions and problems. Plans have become the justification for planning. Planning has come to be conceived as a rational method of orienting the process of decisions through the establishment of a precise and quantified relation between means and ends. But this conception has led to a planning history rimmed with frustration, and failure, because of its rigidity in the face of flexible and changing reality. Rather, he suggests a conception of planning which understands it "as a rational process of formulating decisions about the policy, economy, and society whose only demand is that of managing the instrumentarium in a harmonious and integrated form in order to reach explicit, but not quantified ends". He calls this "planning without plans": the establishment of broad-scale tendencies through diagnosis whose implementation is carried out through an adjustable, coherent instrumentarium of political-economic tools. Administration according to a plan of multiple, integrated goals is a sound procedure if the nation's administrative machinery contains the technical development needed to control the multiple variables linked to any situation of socio-economic change. Brazil does not possess this level of refinement and any strategy of planning relevant to its problems must recognize this. The reforms which have been attempted fail to make this recognition as is true of the conception of planning informing the Brazilian experience. Therefore, unworkable plans, ill-diagnosed with little or no supportive instrumentarium or flexibility have been Brazil's legacy. This legacy seems likely to continue until the conception of planning comes to live in the reality of Brazil.
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Aging in humans appears to be associated with genetic instability. The cytokinesis-blocked micronucleus assay (CBMN) is a comprehensive method for measuring chromosome breakage, DNA misrepair, chromosome loss, non-disjunction, necrosis, apoptosis and cytostasis. Age and gender are the most important demographic variables affecting the micronucleus (MN) index and studies report frequencies in females being greater than those in males by a factor of 1.2 to 1.6 depending on the age group. It has been shown that a higher MN frequency directly corresponds to a decreased efficiency of DNA repair and increased genome instability.
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The wettability of polyimide surfaces microstructured using KrF laser radiation at fluences above the material ablation threshold was studied by static contact angle measurements. The laser-treated surfaces present a morphology consisting of conical features whose dimensions and areal density depend on the fluence. The effect of these parameters on the surface apparent contact angle depends on the wetting regime. When wetting occurs in the homogeneous regime, the apparent contact angle of the treated surfaces increases with the radiation fluence because the cone dimensions increase. In contrast, when wetting occurs in the heterogeneous regime, the apparent contact angle increases with the radiation fluence because the average distance between cones increases. The apparent water contact angle of the laser-treated surfaces can reach values as high as 162 degrees, as compared to 75 degrees for virgin polyimide.
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As citopatias mitocondriais constituem um importante grupo de doenças metabólicas de expressão clínica heterogénea, para as quais não existe uma terapia eficaz. A maioria destas doenças é causada por uma disfunção ao nível da fosforilação oxidativa (OXPHOS), originando consequentemente uma deficiente produção de energia. O correto funcionamento da OXPHOS resulta de uma interação coordenada entre o genoma nuclear e mitocondrial. Assim, as doenças mitocondriais podem ser causadas por defeitos moleculares no genoma mitocondrial, no nuclear, ou em ambos, originando as doenças da comunicação intergenómica, que resultam na perda ou na instabilidade do DNA mitocondrial (mtDNA), e podem causar quer deleções múltiplas, quer depleção do genoma mitocondrial. A síndrome da depleção do mtDNA constitui um grupo de doenças raras, autossómicas recessivas, que se manifestam maioritariamente após o nascimento, causando a morte de muitos doentes durante a infância ou início da adolescência devido a uma redução acentuada do número de cópias do mtDNA. Trata-se de uma síndrome fenotipicamente heterogénea, apresentando-se sob três apresentações clínicas: hepatocerebral, miopática e encefalomiopática. A caracterização molecular destes doentes é importante não só para permitir a realização de aconselhamento genético e diagnóstico pré-natal adequados, mas também para melhorar a compreensão da fisiopatologia da doença e as opções terapêuticas.
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A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA. Devido à grande complexidade desta patologia a primeira abordagem de diagnóstico, consiste na análise da instabilidade cromossómica, após cultura celular com estimulação com agentes clastogénicos diepoxibutano (DEB) ou mitomicina C (MMC). Realizou- se um estudo retrospetivo de 34 anos (1980-2014) em 243 amostras com suspeita de AF e de 25 amostras de familiares de doentes de AF, num total de 268 amostras. Nas 243 amostras suspeitas de Anemia de Fanconi, foram identificadas 37 com AF. A idade média ao diagnóstico foi de 7 anos, existindo um ligeiro predomínio da incidência no sexo feminino (59%). Uma amostra foi classificada como AF(-/+). Nos familiares de doentes com AF foram identificados 2 casos positivos, o que perfaz 39 amostras de AF positivas. Em quatro das amostras AF negativas, observaram-se cariotipos anormais. Estes resultados não permitem estimar uma frequência de doentes de AF em Portugal, uma vez que não englobam indivíduos de todas as regiões portuguesas, mas permitem uma estimativa da frequência espectável.
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Uma das patologias mais frequentes em traumatologia é a instabilidade do complexo articular do ombro. Essa instabilidade é explicada pela função integral anormal dos estabilizadores estáticos e dinâmicos. Por isso, num primeiro momento, o objectivo deste estudo de caso consiste na realização de uma breve revisão actualizada desta temática, visando a sua avaliação e reabilitação, enquanto num segundo momento trata de um caso concreto, à luz destes conceitos.