997 resultados para REGULATORY POLYMORPHISM


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Pós-graduação em Genética e Melhoramento Animal - FCAV

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As mentioned in FAL Bulletin No 167, "trade facilitation" is still a relatively imprecise concept covering a wide variety of topics, such as: customs issues; technical norms relating to quality standars and control of plant and normal diseases; transport; commercial information interchange and a variety of trade-related services.This broad scope means that an analysis of trade facilitation at the level of an individual country or trade agreement, entails obtaining data froma variety of public bodies, since they are not centralized. Studying trade facilitation in Mercosur is quite complex, given its considerable organizational decentralization and the geographic dispersal of the operations of its different bodies.This edition of our Bulletin covers progress achieved on customs issues and on technical standards and quality control.

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Belize is currently faced with several critical challenges associated with the production, distribution and use of energy. Despite an abundance of renewable energy resources, the country remains disproportionately dependent on imported fossil fuels, which exposes it to volatile and rising oil prices, limits economic development, and retards its ability to make the investments that are necessary for adapting to climate change, which pose a particularly acute threat to the small island states and low-lying coastal nations of the Caribbean. This transition from energy consumption and supply patterns that are based on imported fossil fuels and electricity towards a more sustainable energy economy that is based on environmentally benign, indigenous renewable energy technologies and more efficient use of energy requires concerted action as the country is already challenged by limited fiscal space which reduces its ability to provide some fiscal incentives, which have been proven to be effective tools for the promotion of sustainable energy markets in a number of countries. This report identifies the fiscal and regulatory barriers to implementation of energy efficiency measures and renewable energy technologies in Belize. Data and information were derived from stakeholder consultations conducted within the country. The major result of the assessment is that the transition of policies and plans into tangible action needs to be increased. In this regard, it is necessary to articulate sub-policies of the National Energy Policy to amend the Public Utilities Commission Act, to develop a grid interconnection policy, to establish minimum energy performance standards for buildings and equipment and to develop a public procurement policy. Finally, decisions on renewable energy and energy efficiency-related incentives from the Government formally requires decision-makers to solve what may be extremely complex optimization problems in order to obtain the lowest-cost provision of energy services to society, thereby weighing the cost of revenue losses with the benefits of fuel and infrastructure expansion savings. The establishment of a management system that is efficient, flexible, and transparent, which will facilitate the implementation of the strategic objectives and outputs in the time available, with the financial resources allocated is recommended. Support is required for additional institutional and capacity strengthening.

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The current energy systems within Curaçao depend primarily on high cost, imported fossil fuels, and typically constitute power sectors that are characterized by small, inefficient generation plants which result in high energy prices. As a consequence of its dependence on external fuel supplies, Curaçao is extremely vulnerable to international oil price shocks, which can impact on economic planning and foreign direct investment within their industrial sectors. The ability of the successive governments to source capital for economic stimulation and social investment is therefore significantly challenging. Additionally, there is over-dependence on two of the most climate-sensitive economic sectors, namely the tourism and fisheries sectors, but the vulnerabilities of the country to the effects of climate change make adaptation difficult and costly. It is within this context that this report focuses on identification of the fiscal and regulatory barriers to implementation of energy efficiency and renewable energy technologies in Curaçao with a view of making recommendations for removal of these barriers. Consultations with key Government officials, the private sector as well as civil society were conducted to obtain information and data on the energy sector in the country. Desktop research was also conducted to supplement the information gathered from the consultations. The major result of the assessment is that Curaçao is at an early stage in the definition of its energy sector. Despite some infrastructural legacies of the pre-independence era, as well as a number of recent developments including the modernization and expansion of its windfarms and completion of a modern Electricity Policy, there are still a number of important institutional and policy gaps within the energy sector in Curaçao. The most significant deficiency is the absence of a ministry or Government agency with portfolio responsibility for the energy sector as a whole; this has: limited the degree to which the activities of energy sector stakeholders are coordinated and retarded the development and implementation of a comprehensive national energy policy. The absence of an energy policy, which provides the framework for energy planning, increases investor risk. Also, the lack of political continuity that has emanated from the frequent changes in Government administrations is a concern among stakeholders and has served to reduce investor confidence in particular, and market confidence in general.

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This course will be designed for the officers within government departments who have responsibilty for guiding the country’s energy policy and energy management framework. Other stakeholders also will include private sector representatives who have interest in providing energy efficiency equipment and renewable energy solutions to the market towards advancing improvements in both energy efficiency and meeting renewable energy targets. The course will provide insight into all aspects of energy management with specific emphasis on energy efficiency as well as renewable energy. Emphasis will be placed on highlighting issues and challenges that countries face in pursuing energy efficiency and renewable energy strategies. International and regional best practices will be highlighted as a means of showcasing how various countries have overcome the barriers to advancing renewable energy targets and increasing energy efficiencies towards meeting national energy goals. The curriculum is divided into five modules and is designed to be covered over a 3-day period. The course will be designed to ensure practical application of the learning. The course also is designed to enable the Caribbean to demonstrate leadership in energy efficiency practices and the adoption of renewable energy strategies, serving as a model for other small island developing states.

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Para estudar o relacionamento genético entre as raças suínas Landrace, Large White e Duroc foram utilizados os dados sobre três polimorfismos protéicos, investigados em três amostras brasileiras e em 13 populações de outros países, incluindo uma população de Landrace Belga. O dendrograma, construído a partir da matriz dos coeficientes de distância genética, mostrou três grandes grupos reunidos por raça. Os agrupamentos de Landrace e os de Large White mostraram em média maior semelhança entre si (D = 0,203) do que entre eles e os de Duroc (D = 0,241). Nas três raças, as menores distâncias genéticas foram verificadas entre as populações brasileiras e as cubanas (Landrace: D = 0,060; Large White: D = 0,052; Duroc: D = 0,065), apesar de não haver relatos de trocas de animais entre estes dois países.

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ABSTRACT: The present study investigated the frequency of the mutations at positions -550 and -221 of the mannose-binding lectin (MBL) gene in a sample of 75 human T-cell lymphotropic virus (HTLV) infected patients and 96 HTLV seronegative controls, in order to evaluate the occurrence of a possible association between the polymorphism and HTLV infection. A sequence specific primer-polymerase chain reaction was used for discrimination of the polymorphism. The analysis of allele frequencies at position -550 did not show any significant differences between HTLV infected group and controls, but there was a significant difference at position -221. The comparative analysis of haplotypes frequencies were not significant, but the genotype frequencies between the two groups, revealed a higher prevalence of genotype LYLX (25.3%), associated with medium and low MBL serum levels among HTLV infected subjects. The odds ratio estimation demonstrated that the presence of genotype LYLX was associated with an increased risk of HTLV infection (p = 0.0096; 1.38 < IC95% < 7.7605). There was no association between proviral load and the promoter polymorphism, but when promoter and exon 1 mutations were matched, it was possible to identify a significant higher proviral load among HTLV infected individuals carrying haplotypes correlated to low serum levels of MBL. The present study shows that the polymorphism in the promoter region of the MBL gene may be a genetic marker associated with HTLV infection, and emphasizes the need for further studies to determinate if the present polymorphism have any impact on diseases linked to HTLV infection.

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Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old) of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years) are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our sample, the familial tumorigenesis is probably related to other gene etiologies.

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CONTEXTO: A neoplasia gástrica é a segunda causa mais comum de morte por câncer no mundo e o H. pylori é classificado como carcinógeno humano tipo I pela Organização Mundial de Saúde. Entretanto, apesar da elevada prevalência da infecção pelo H. pylori em todo mundo, menos de 3% de indivíduos portadores dessa bactéria desenvolvem neoplasias gástricas. Tal fato indica que a evolução para malignização possa estar associada a fatores bacterianos, do hospedeiro e do ambiente. OBJETIVOS: Investigou-se a associação do polimorfismo da região promotora do gene IL-8 (-251) e do genótipo do H. pylori, baseado nos alelos vacA e na presença do gene cagA, com a clínica e os dados histopatológicos. MÉTODOS: Em estudo prospectivo, 102 pacientes com câncer gástrico e 103 voluntários saudáveis foram analisados. O polimorfismo da IL-8 (-251) foi determinado pela reação de PCR-RFLP e sequenciamento. Para genotipagem dos alelos vacA e do gene cagA das cepas bacterianas foi utilizada a PCR. As biopsias gástricas foram avaliadas histologicamente. RESULTADOS: A sorologia para o H. pylori foi positiva em 101 (99%) de todos os pacientes analisados, e 98 (97%) deles foram colonizados por apenas uma cepa bacteriana. Em pacientes com monoinfecção, 82 (84%) das cepas bacterianas observadas apresentavam o genótipo s1b/m1. O gene cagA foi detectado em 74 (73%) dos pacientes infectados pelo H. pylori. A presença do gene cagA demonstrou estar associada com a presença do genótipo s1b/m1 do gene vacA (P = 0,002). Quanto ao polimorfismo do gene da IL-8 (-251), observou-se que os genótipos AA (P = 0,026) e AT (P = 0,005) foram mais frequentes no grupo de pacientes com adenocarcinoma gástrico. Comparando os diferentes tipos de cepas bacterianas isoladas, com o polimorfismo do gene da IL-8-251 e dados histopatológicos, observou-se que, portadores do alelo A (AT e AA) infectados por cepas virulentas (m1s1 cagA+), demonstraram risco aumentado de apresentar maior grau de inflamação (OR = 24,75 IC 95% 2,29-267,20 P = 0,004) e aumento da atividade neutrofílica (OR = 28,71 IC 95% 2.62-314 P = 0,002) na mucosa gástrica. CONCLUSÃO: Os resultados demonstram que a interação entre o polimorfismo do gene da IL-8, particularmente em portadores do alelo A, e o tipo de cepa infectante do H. pylori (s1m1 cagA positiva) desempenha importante função no desenvolvimento do câncer gástrico.

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An analysis of the dietary content of haematophagous insects can provide important information about the transmission networks of certain zoonoses. The present study evaluated the potential of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of the mitochondrial cytochrome B (cytb)gene to differentiate between vertebrate species that were identified as possible sources of sandfly meals. The complete cytb gene sequences of 11 vertebrate species available in the National Center for Biotechnology Information database were digested with Aci I, Alu I, Hae III and Rsa I restriction enzymes in silico using Restriction Mapper software. The cytb gene fragment (358 bp) was amplified from tissue samples of vertebrate species and the dietary contents of sandflies and digested with restriction enzymes. Vertebrate species presented a restriction fragment profile that differed from that of other species, with the exception of Canis familiaris and Cerdocyon thous. The 358 bp fragment was identified in 76 sandflies. Of these, 10 were evaluated using the restriction enzymes and the food sources were predicted for four: Homo sapiens (1), Bos taurus (1) and Equus caballus (2). Thus, the PCR-RFLP technique could be a potential method for identifying the food sources of arthropods. However, some points must be clarified regarding the applicability of the method, such as the extent of DNA degradation through intestinal digestion, the potential for multiple sources of blood meals and the need for greater knowledge regarding intraspecific variations in mtDNA.

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An analysis of the dietary content of haematophagous insects can provide important information about the transmission networks of certain zoonoses. The present study evaluated the potential of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of the mitochondrial cytochrome B (cytb) gene to differentiate between vertebrate species that were identified as possible sources of sandfly meals. The complete cytb gene sequences of 11 vertebrate species available in the National Center for Biotechnology Information database were digested with Aci I, Alu I, Hae III and Rsa I restriction enzymes in silico using Restriction Mapper software. The cytb gene fragment (358 bp) was amplified from tissue samples of vertebrate species and the dietary contents of sandflies and digested with restriction enzymes. Vertebrate species presented a restriction fragment profile that differed from that of other species, with the exception of Canis familiaris and Cerdocyon thous. The 358 bp fragment was identified in 76 sandflies. Of these, 10 were evaluated using the restriction enzymes and the food sources were predicted for four: Homo sapiens (1), Bos taurus (1) and Equus caballus (2). Thus, the PCR-RFLP technique could be a potential method for identifying the food sources of arthropods. However, some points must be clarified regarding the applicability of the method, such as the extent of DNA degradation through intestinal digestion, the potential for multiple sources of blood meals and the need for greater knowledge regarding intraspecific variations in mtDNA.