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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
391

Padronização de um protocolo para identificação de mutações no gene da GALNS em pacientes com MPS IVA através das técnicas de PCR-ARMS (Amplification Refractory Mutation System) e sequenciamento

Kubaski, Francyne January 2012 (has links)
Introdução: Mucopolissacaridose IVA ou Síndrome de Morquio A é uma doença autossômica recessiva causada pela deficiência da enzima lisossomal Nacetilgalactosamina- 6-sulfatase (GALNS), que resulta no acúmulo lisossomal dos glicosaminoglicanos: Queratan sulfato e Condroitin-6-sulfato nos tecidos causando as manifestações clínicas. Os fenótipos variam da forma clássica à forma atenuada, ambas sem comprometimento cognitivo. A prevalência de MPS IVA varia de 1/76.000 a 1/640.000 nascidos vivos. Objetivos: Analisar e caracterizar o genótipo de pacientes brasileiros com MPS IVA através de estudos de mutações no gene da GALNS, possibilitando a estimativa de frequência de mutações recorrentes e o estabelecimento um protocolo de rotina para triagem dessas mutações. Métodos: Análise molecular do gene da GALNS foi realizada em 26 pacientes brasileiros inicialmente através de PCR-ARMS para detecção de seis mutações recorrentes (p.G116S/ p.G139S/ p.L307P/ p.N164T/ p.R386C e p.S341R) seguidas pela amplificação de regiões codificantes por PCR e sequenciamento. Resultados: Essas mutações foram encontradas em 61,5% da nossa amostra, com uma frequência alélica de 55,8%. Destas, a mutação mais frequente foi p.S341R (26,9%), seguida de p.R386C (21,1%) e p.G116S (7,7%). As mutações p.N164T, p.G139S, p.L307P não foram encontradas em nossa amostra. Além destas, foi encontrada por sequenciamento do éxon 5 uma mutação nova p.C165Y. Conclusão: O protocolo usado para detecção de mutações comuns mostrou-se adequado como um screening inicial de mutações no gene da GALNS, identificando mutações em 61,5% dos pacientes e permitiu a caracterização de 55,8% dos alelos. A mutação p.S341R foi encontrada apenas em pacientes do Nordeste. A identificação de indivíduos heterozigotos nessas famílias será importante para aconselhamento genético e para estimar a prevalência da doença nessa região. Estudos adicionais para identificação da origem dessa mutação, incluindo análises de segregação e haplótipo estão em andamento, e serão avaliadas em conjunto com dados epidemiológicos. / Background: Mucopolysaccharidosis IVA or Morquio A syndrome, is an autosomal recessive disorder caused by deficiency of lysosomal enzyme Nacetylgalactosamine- 6-sulfatase (GALNS), which results in lysosomal storage of glycosaminoglycans: Keratan sulfate and Chondroitin-6-sulfate in tissues causing clinical manifestations. The phenotypes vary from the classical to attenuated form, both without cognitive impairment. The prevalence of MPS IVA ranges from 1/76.000 to 1/640.000 live births. Objective: To analyze and characterize the genotype of Brazilian patients with MPS IVA, through molecular study of mutations in the GALNS gene, enabling the estimative of frequency of recurrent mutations and the establishment of a protocol for routine screening of these mutations. Methods: Molecular analysis of GALNS gene was performed in 26 Brazilian patients initially by ARMS-PCR to detect six recurrent mutations (p.G116S/ p.G139S/ p.L307P/ p.N164T/ p.R386C and p.S341R) followed by amplification of coding regions by PCR and sequencing. Results: These mutations were found in 61.5% of our sample, which were present in 55.8% of the alleles. The most frequent mutation was p.RS341R (26.9%), followed by p.R386C (21.1%) and p.G116S (7.7%). Mutations p.N164T, p.G139S, p.L307P were not found in our sample. A novel mutation p.C165Y was found after sequencing of exon 5. Conclusion: The protocol used for detection of common mutations was shown to be adequate for a first screening of mutations at the GALNS gene, once it identified the genotype in 61.5% of patients and allowed the characterization of 55.8% of alleles. The p.S341R was found only in patients from the Northeast. The identification of heterozygous individuals within these families will be important for genetic counseling and for estimating the disease prevalence in this region. Further studies to identify the origin of this mutation, including haplotype and segregation analyses are in progress, and will be evaluated in conjunction with epidemiological data.
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392

L'égalité des armes devant les juridictions pénales internationales / The egality of arms before the international criminal courts

Nicolas-Gréciano, Marie 09 December 2015 (has links)
Le principe de l'égalité des armes est devenu, à travers la jurisprudence de la Cour européenne des droits de l'homme, la pierre angulaire du droit à un procès équitable. Il implique qu'aucune partie ne soit placée dans une situation nettement plus défavorable par rapport à celle de son adversaire. L'essor de ce standard au niveau international et l'intensification du phénomène de circulation normative ont conduit les juridictions pénales internationales et internationalisées à reconnaître, de manière prétorienne et unifiée, ce principe et à l'importer dans leur contentieux afin d'assurer la légitimité de leurs décisions. Toutefois, ce principe directeur du procès entre en tension avec un autre objectif assigné à la justice pénale internationale : l'efficacité de la lutte contre l'impunité. Perçue comme un frein à la répression, l'acception de l'égalité des armes a été cantonnée tant dans sa substance que dans sa procédure de mise en œuvre. Les juridictions reposent, en outre, sur des déséquilibres structurels et procéduraux, puisque la défense, "pilier oublié", manque de moyens pour réaliser ses missions, contrairement au bureau du procureur, organe "tout-puissant". Dans ces circonstances, le déséquilibre inhérent aux interactions entre le procureur et l'accusé ne peut pas être compensé. Pour redonner sa valeur et sa portée de principe directeur du procès à l'égalité des armes, des propositions de rééquilibrages et de modifications paradigmatiques du contentieux seront alors effectuées. Ainsi, la justice pénale internationale pourra pleinement retrouver sa légitimité. / The principle of equality of arms has become, through the jurisprudence of the European Court of Human Rights, the cornerstone of the right to a fair trial. It implies that no party shall be placed in a substantial disadvantage vis-à-vis his opponent. The development of this standard at the international level and the intensification of normative interactions phenomenon have led international and internationalized criminal courts to recognize, as a court creation and in unified way, this principle and import it into their litigation procedure to ensure the legitimacy of their decisions. However, this guiding principle of the trial conflicts with another objective assigned to international criminal justice: the effectiveness of the fight against i:mpunity. Perceived as a barrier to repression, the equality of arms’ meaning was restricted both in in substance and in its implementation process. Furthermore, the courts are based on structural and procedural imbalances, since the defense, "forgotten pillar", lacks of resources to carry out its missions, unlike the prosecutor's office, which would be an "almighty" organ. In these circumstances, the inherent imbalance in the interactions between the prosecutor and the accused person cannot be compensated. In order to restore the value and scope of equality of arms as a principle of the trial, proposals for rebalancing and paradigmatic changes of the litigation will be made. Thus, internationally criminal justice can fully regain its legitimacy.
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393

Padronização de um protocolo para identificação de mutações no gene da GALNS em pacientes com MPS IVA através das técnicas de PCR-ARMS (Amplification Refractory Mutation System) e sequenciamento

Kubaski, Francyne January 2012 (has links)
Introdução: Mucopolissacaridose IVA ou Síndrome de Morquio A é uma doença autossômica recessiva causada pela deficiência da enzima lisossomal Nacetilgalactosamina- 6-sulfatase (GALNS), que resulta no acúmulo lisossomal dos glicosaminoglicanos: Queratan sulfato e Condroitin-6-sulfato nos tecidos causando as manifestações clínicas. Os fenótipos variam da forma clássica à forma atenuada, ambas sem comprometimento cognitivo. A prevalência de MPS IVA varia de 1/76.000 a 1/640.000 nascidos vivos. Objetivos: Analisar e caracterizar o genótipo de pacientes brasileiros com MPS IVA através de estudos de mutações no gene da GALNS, possibilitando a estimativa de frequência de mutações recorrentes e o estabelecimento um protocolo de rotina para triagem dessas mutações. Métodos: Análise molecular do gene da GALNS foi realizada em 26 pacientes brasileiros inicialmente através de PCR-ARMS para detecção de seis mutações recorrentes (p.G116S/ p.G139S/ p.L307P/ p.N164T/ p.R386C e p.S341R) seguidas pela amplificação de regiões codificantes por PCR e sequenciamento. Resultados: Essas mutações foram encontradas em 61,5% da nossa amostra, com uma frequência alélica de 55,8%. Destas, a mutação mais frequente foi p.S341R (26,9%), seguida de p.R386C (21,1%) e p.G116S (7,7%). As mutações p.N164T, p.G139S, p.L307P não foram encontradas em nossa amostra. Além destas, foi encontrada por sequenciamento do éxon 5 uma mutação nova p.C165Y. Conclusão: O protocolo usado para detecção de mutações comuns mostrou-se adequado como um screening inicial de mutações no gene da GALNS, identificando mutações em 61,5% dos pacientes e permitiu a caracterização de 55,8% dos alelos. A mutação p.S341R foi encontrada apenas em pacientes do Nordeste. A identificação de indivíduos heterozigotos nessas famílias será importante para aconselhamento genético e para estimar a prevalência da doença nessa região. Estudos adicionais para identificação da origem dessa mutação, incluindo análises de segregação e haplótipo estão em andamento, e serão avaliadas em conjunto com dados epidemiológicos. / Background: Mucopolysaccharidosis IVA or Morquio A syndrome, is an autosomal recessive disorder caused by deficiency of lysosomal enzyme Nacetylgalactosamine- 6-sulfatase (GALNS), which results in lysosomal storage of glycosaminoglycans: Keratan sulfate and Chondroitin-6-sulfate in tissues causing clinical manifestations. The phenotypes vary from the classical to attenuated form, both without cognitive impairment. The prevalence of MPS IVA ranges from 1/76.000 to 1/640.000 live births. Objective: To analyze and characterize the genotype of Brazilian patients with MPS IVA, through molecular study of mutations in the GALNS gene, enabling the estimative of frequency of recurrent mutations and the establishment of a protocol for routine screening of these mutations. Methods: Molecular analysis of GALNS gene was performed in 26 Brazilian patients initially by ARMS-PCR to detect six recurrent mutations (p.G116S/ p.G139S/ p.L307P/ p.N164T/ p.R386C and p.S341R) followed by amplification of coding regions by PCR and sequencing. Results: These mutations were found in 61.5% of our sample, which were present in 55.8% of the alleles. The most frequent mutation was p.RS341R (26.9%), followed by p.R386C (21.1%) and p.G116S (7.7%). Mutations p.N164T, p.G139S, p.L307P were not found in our sample. A novel mutation p.C165Y was found after sequencing of exon 5. Conclusion: The protocol used for detection of common mutations was shown to be adequate for a first screening of mutations at the GALNS gene, once it identified the genotype in 61.5% of patients and allowed the characterization of 55.8% of alleles. The p.S341R was found only in patients from the Northeast. The identification of heterozygous individuals within these families will be important for genetic counseling and for estimating the disease prevalence in this region. Further studies to identify the origin of this mutation, including haplotype and segregation analyses are in progress, and will be evaluated in conjunction with epidemiological data.
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394

Information networks among species:adaptations and counter-adaptations in acquiring and hiding information

Loukola, O. (Olli) 06 May 2014 (has links)
Abstract Social information use is a widespread phenomenon across the animal kingdom and it affects various important aspects of animal behaviour. Animals observe and copy the behaviour of conspecifics and other species on the same trophic level in their own decision-making, e.g., in habitat or mate choice. Copying is adaptive only when it is selective. Thus, it would be important to understand when and which individuals should copy others, and which individuals they choose to copy and what are the consequences of social information use. In this thesis, I experimentally study these questions in wild animals living in natural conditions. By simulating arbitrary preference of great tits (Parus major), I demonstrated that the portrayed fitness does not affect the nest site choices of conspecifics, but the tit pairs with an old male prefer the nest site choices of good and poor conspecifics. Social information use among tits appears to be age- and sex-dependent. Pied flycatchers (Ficedula hypoleuca), however, selectively copy or reject a novel nest site feature preference (symbol attached to the nest box) of great tits experimentally manipulated to exhibit high or low fitness (clutch size), respectively. By offering pied flycatchers choice in nest boxes with alternative contents, I showed that nest take-overs of flycatchers are not a form of social information use, but seem to result from the reduced building effort required. Furthermore, by conducting a decoy and playback experiment, I showed that great tits covered eggs more efficiently in the presence of pied flycatchers. One function of egg covering behaviour seems to be a counter-adaptation to reduce information parasitism by pied flycatchers. My results demonstrate that the social transmission of behaviours across species can be highly selective in response to observed fitness, plausibly making the phenomenon adaptive. In contrast with the current theory of species coexistence, overlap between realized niches of species could dynamically increase or decrease, depending on the observed success of surrounding individuals. The social information revealed by success and behaviour of animals is a resource that can be used or concealed. It is a new kind of evolutionary and ecological factor which may affect the formation of ecosystems and species coevolution. / Tiivistelmä Sosiaalinen informaationkäyttö on yleinen ilmiö eläinkunnassa, ja sitä tavataan aina hyönteisistä valaisiin. Yksilöt tarkkailevat ja kopioivat sekä lajitovereiden että toisen ekologialtaan samankaltaisen lajin yksilöiden käyttäytymistä erilaisissa tilanteissa, kuten pesäpaikan tai parittelukumppanin valinnassa. Sosiaalinen informaationkäyttö on adaptiivista ainoastaan ollessaan valikoivaa. Siksi on tärkeää selvittää kenen, koska ja ketä kannattaa kopioida, ja mitä ekologisia ja evolutiivisia seurauksia siitä koituu informaation lähteelle ja käyttäjälle. Väitöskirjassani tutkin kokeellisesti informaation hankkijan (kirjosieppo Ficedula hypoleuca) valikoivaa kopioimista ja siitä mahdollisesti johtuvaa informaation lähteen (talitiainen Parus major) vasta-adaptaatiota luonnonoloissa. Symbolikokeilla selvitin, että talitiaisten lajinsisäinen kopiointi on iästä ja sukupuolesta riippuvaa, mutta informaationlähteen havaittu kelpoisuus ei vaikuta kopioinnin todennäköisyyteen. Kirjosiepot puolestaan kopioivat valikoivasti keinotekoisesti luotuja tiaisten mieltymyksiä pesäpönttöön kiinnitettyjä symboleja kohtaan, riippuen tiaisten havaitusta manipuloidusta kelpoisuudesta (munamäärästä pesässä). Siepot kopioivat tiaisia, joiden pesässä on paljon munia (13 munaa), ja rejektoivat tiaisia (valitsevat vaihtoehtoisen symbolin), joilla munia on vähän (5 munaa). Tarjoamalla kirjosiepoille vaihtoehtoisia pesäpönttöjä osoitin, että sieppojen luontainen mieltymys vallata ja rakentaa pesänsä toisten pesien päälle ei ole sosiaalisen informaationkäytön muoto, vaan se näyttää olevan pesänrakennuksen kustannusten minimointia. Playback-kokeilla osoitin, että talitiaisten munienpeittelykäyttäytymisellä on useita funktioita. Se on vasta-adaptaatio kirjosiepon informaatioloisintaa vastaan ja toimii mahdollisesti suojana kylmää vastaan. Väitöskirjani tulokset osoittavat, että eläinten käyttäytymisen paljastama sosiaalinen informaatio on resurssi, jota voidaan hyödyntää tai salata. Se on myös uudenlainen ekologinen ja evolutiivinen tekijä, joka vaikuttaa eliöyhteisöjen muodostumiseen ja lajien koevoluutioon. Lajienvälinen valikoiva sosiaalinen informaationkäyttö -hypoteesi haastaa nykyisen koevoluutioteorian. Se ennustaa, että informaatiota hyödyntävän lajin ja informaationlähteen ominaisuudet voivat joko samankaltaistua tai erilaistua, informaationlähteen havaittavasta menestyksestä riippuen.
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395

Contending issues in South Africa's foreign policy : universalism versus economic national interest : the case of South Africa's arms sales to 'pariah states' 1994-1999

Othieno, Timothy January 2005 (has links)
This study examines post-apartheid South African foreign policy under former President Nelson Mandela, and the apparent ambiguities that were its recurrent feature in the period from 1994 to 1999. Its focus is on the inherent irreconcilability of the economic national interests and the foreign policy principles which included the promotion of and respect for universalist principles and interests such as human rights, democracy, international peace and security. In examining South African foreign policy during this period, it would appear that the country was trapped between two competing priorities: the need to promote "universalist" principles and the need to satisfy its national economic interests. The main aim of the study is to explain how this "irreconcilability" between universalist principles and national economic interests would later create ambiguities and contradictions in South Africa's foreign policy, weaken respect for its foreign policy principles, and ultimately lead to ideological failure among politicians who employed 'short-term gain' policy decision-making in dealing with 'pariah states'. The study further demonstrates that "realist" national interests are frequently short-term, realizable and vital for a country, while universalist interests are long-term, idealistic and usually not easily realizable. It will be argued, therefore, that a country faced with making decisions about its vital national interests, will not make efforts to pursue long-term universalist interests if that choice would in any way endanger its fundamental national interests. In order to better assess this ambiguity, this thesis will provide a case study of Pretoria's arms sales to 'pariah states' during the period. The purpose of this study is not to attempt to explain all of the issues around post-apartheid foreign policymaking, or even to argue whether the sale of arms to 'pariah states' was 'politically incorrect', but to provide a 'piece of the puzzle' which might explain how the social and economic situation may have compelled Pretoria to sell arms when these actions disregarded universalist principles of foreign policy. The conclusion seems to confirm the realist view that universal values and principles can be regarded only when they are in harmony with a state's perceived self-interests.
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396

La guerre civile angolaise de 1991 à 2002 / The angolan civil war between 1991 and 2002

Koné, Amadou 18 October 2010 (has links)
Cette thèse étudie la persistance du conflit angolais entre 1991 et 2002. Elle entend revenir sur les causes de la faillite des processus de paix de Bicesse et de Lusaka. La signature des accords de Bicesse entre le MPLA et l’UNITA, le 31 mai 1991, ne permit guère à l’Angola d’accéder à une paix durable. Après les élections des 29 et 30 septembre 1992, la guerre reprit sur l’ensemble du territoire. Le gouvernement MPLA et l’UNITA signèrent un nouvel accord de paix à Lusaka le 30 novembre 1994. Mais, celui-ci n’eut guère plus de réussite que le précédent malgré l’inauguration d’un Gouvernement d’unité et de réconciliation nationale en avril 1997. Les deux camps s'affrontèrent de nouveau en décembre 1998 et fut alimentée par les entrées d’armes au profit des deux camps, qui finançaient leur effort de guerre grâce au pétrole pour le MPLA et aux diamants pour l’UNITA. L’affaiblissement politique et militaire de l’UNITA permit au MPLA de défaire ce mouvement en tuant son chef le 22 février 2002. / This PhD dissertation examines the persistence of the Angolan conflict between 1991 and 2002. It goes back over the causes of the failure of the Bicesse and Lusaka peace processes. The signing of the Bicesse accords between MPLA and UNITA, on May 31st, 1991, did not permit Angola to reach a lasting peace. After the elections, which took place on September 29 and 30, 1992, the war started again on the whole territory. The MPLA government and UNITA signed a new peace accord in Lusaka on November 30,1994. Nevertheless, it had as little success as the former peace accord, despite the inauguration of a new government of unity and national reconciliation in April 1997. A new war began in December 1998 and was fueled by weapon supplies for the two groups, which financed their war effort thanks to oil resources for MPLA and diamonds for UNITA. UNITA's political and military weakening allowed MPLA to defeat this organization by killing its leader on February 22nd, 2002.
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397

Competitive Intelligence / Competitive Intelligence

Pleško, Tomáš January 2011 (has links)
Diploma thesis “Competitive Intelligence” treats with using methods of competitive intelligence at the example of certain company. We will define basic terms and principals of competitive intelligence at the beginning, and then the thesis will contain analyses of concrete situation and procedures suggestion how to solve critical situations. For the analyses will be use information provided by company and also information from public databases. We will dedicate implantation of competitive intelligence methods to the company's decision making process with consideration future market development in this thesis. We will clarify phases which company has to make for establishing CI methods to the reader on the pages of this work. We will also devote information sources and procedure, which can be for those issues crucial.
398

Strategies to Manage Transfer Pricing Risks

Kanee, Emmanuel Lah 01 January 2019 (has links)
Transfer pricing compliance related issues continue to pose challenges to leaders of multinational entities (MNEs) and tax regulators. MNE leaders strive to mitigate the risks of non-compliance violations and double taxation, while tax regulators seek to minimize profit shifting and revenue losses. This multiple case study explored strategies for managing transfer pricing risks against the backdrop of various risks MNE leaders face for non-compliance violations. The cost contribution agreement theory served as the conceptual framework for this study. Data were collected from organizational documents and semistructured interviews conducted with 6 finance executives representing 2 multinational entities in the midwest and southwest regions of the United States who have implemented successful strategies to manage transfer pricing risks. Data were analyzed using Yin's multiple-step thematic analysis process. Following the thematic data analysis 5 themes emerged, including commitment to tax compliance, tax minimization, advance pricing agreement (APA), comparable uncontrolled price method (CUP), and cost plus method (CPM). MNE leaders favor commitment to tax compliance as an effective strategy as penalties for non-compliance increases risks to business functionality. The findings of this study may help business leaders to follow compliance procedures and adopt risk mitigation strategies, while also informing regulators to update tax regulations to reflect current economic realities. The findings of this study could result in positive social change through an enhanced governmental revenue that stimulates economic growth, improves productivity, and promotes technological innovations.
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399

Rostoucí role Číny v africké bezpečnosti / Growing Role of China in African Security

Květová, Lenka January 2014 (has links)
Chinese economic expansion in Africa is a widely discussed topic, but less academic attention is being paid to the role China plays in African security. Since the late 1990s Chinese activity in Africa had been growing rapidly. Beijing's interests are predominantly economic, mostly represented by market seeking and foreign direct investments, and political, generally perceived as a mutual support in international organizations. The thesis focuses on the traditional principle of non-interference in how Chinese policy towards African security has been evolving together with growing Chinese interests on the continent. The People's Republic of China influences African security matters in four areas: diplomatic involvement, arms deals, support and financing, and military cooperation. By analyzing those areas with a combination of qualitative and quantitative methods, concrete cases have been identified, when China interfered in internal affairs of particular states, thus altering its policy of non- interference towards more pragmatic and case by case based approach.
400

The Cross-Sectoral Efforts of an NGO-Business Collaboration for Social Development in El Salvador

Kapur, Ribhav, Steuerwald, Marc Fedor January 2019 (has links)
This study aims to investigate how cross-sector collaborations facilitate social development stemming from weapon destruction programmes that address peacebuilding and the enhancing of human security (socio-economic and political security) in regions afflicted with armed violence. The authors aim to contribute to the literature by demonstrating the viability of previous theoretical methods on designing and implementing a cross-sector collaboration. The research entails a case-study of the HM initiative, a combined effort between three NGO’s from Sweden and El Salvador that involves melting down seized illegal weapons and repurposing them into valuable products for consumers, to ultimately bring about social development in the conflict-prone communities in El Salvador. Through interviews with the involved actors of the NGO’s and documentation of the initiative, this study focuses on the formation of a cross-sector collaboration, the building of internal and external legitimacy by NGO-business partnerships, and the practices that aim to assess public value creation. This study provides insights on antecedent and linking conditions for the formation of a cross-sector collaboration, collaborative processes and structures that foster trusting relationships with both partners and stakeholders, and an implemented accountability framework for the measurement of public value creation. The researchers close with a discussion of further suggestions for relevant research.
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