Testes genéticos de venda direta ao consumidor : questões ético-legais no mercado português

RESUMO - As descobertas realizadas na área da genética levaram ao desenvolvimento de aplicações práticas, entre as quais se destacam os testes genéticos, cujas aplicações em saúde tiveram um impacto considerável na prática clínica. Uma das consequências deste desenvolvimento foi o nascimento de um novo mercado na área da saúde, o mercado dos Testes Genéticos de Venda Direta ao Consumidor (TGVDC). Este mercado está associado a questões do foro ético e legal muito específicas e importantes. Através da realização do presente trabalho de projeto pretende-se analisar e discutir as principais questões éticas e legais suscitadas pelos TGVDC, com maior enfoque no mercado português e na aplicação do enquadramento ético-legal em vigor em Portugal. No que toca à metodologia, no âmbito do presente trabalho de projeto, realizou-se uma análise da literatura científica e ético-legal do tema em estudo. Posteriormente realizou-se uma entrevista exploratória, a uma personalidade de reconhecido mérito na área da genética humana, a fim de compreender quais as principais questões suscitadas pelo mercado de TGVDC. Seguidamente realizou-se um mapeamento das entidades que operam no mercado de TGVDC, seguido de um inquérito a essas mesmas entidades, a fim de avaliar as características do serviço oferecido em Portugal e a aplicação do regime normativo ético-legal em vigor. Verificou-se, como era expectável, que o mercado português de TGVDC apresenta reduzida dimensão quando comparado com outros mercados a nível internacional, designadamente o mercado norte-americano que é, claramente, o mais desenvolvido nesta área. Os resultados obtidos apontaram ainda, no que toca à realidade portuguesa, para a pertinência de questões discutidas na literatura analisada. Em suma, apesar das limitações inerentes à realização de um projeto pioneiro e ambicioso num curto espaço de tempo, as conclusões deste trabalho permitem extrair conclusões importantes acerca do mercado português de TGVDC, sob a perspetiva ético-legal, bem como efetuar recomendações importantes para futuros estudos nesta área.

Yeast as a model system to study genetic and post-translational regulation of metabolic pathways in mammals

Dissertation presented to obtain the Ph.D degree in Biology

Genetic characterization of Portuguese Fasciola hepatica isolates

Dissertation presented to obtain the Master Degree in Molecular, Genetics and Biomedicine

An integrated approach to Physcomitrella patens transcriptomics reveals importantclues of the evolutionary development of plant organs and sexual reproduction

Land plant evolution required the generation of a new body plan that could resist the harsher and fluctuating environmental conditions found outside of aquatic environments. Unraveling the genetic basis of plant developmental innovations is not only revealing in terms of an evolutionary point of view, but it is also important for understanding the emergence of agronomically important traits. Comparative genetic studies between basal and modern land plants, both at the genome and trancriptome levels, can help in the generation of hypotheses related to the genetic basis of plant evolutionary development.(...)

Cerebral vasculopathy in children with sickle cell disease A study of genetic modulators of the disease

Sickle cell disease (SCD) is a genetic disorder with recessive transmission, caused by the mutation HBB:c.20A>T. It originates hemoglobin S that forms polymers inside the erythrocyte, upon deoxygenation, deforming it and ultimately leading to premature hemolysis. The disease presents with high heterogeneity of clinical manifestations, the most devastating of which, ischemic stroke, occurs in 11% of patients until 20 years of age. In this study, we tried to identify genetic modifiers of risk and episodes of stroke by studying 66 children with SCD, grouped according to the degree of cerebral vasculopathy (Stroke, Risk and Control). Association studies were performed between the three phenotypic groups and hematological and biochemical parameters of patients, as well as with 23 polymorphic regions in genes related to vascular cell adhesion (VCAM-1, THBS-1 and CD36), vascular tonus (NOS3 and ET-1) and inflammation (TNF-α and HMOX-1). Relevant data was collected from patient’s medical records. Known genetic modulators of SCD (beta-globin cluster haplotype and HBA and BCL11A genotypes) and putative genetic modifiers of cerebral vasculopathy were characterized. Differences in their distribution among groups were assessed. VCAM-1 rs1409419 allele C and NOS3 rs207044 allele C were associated to stroke events, while VCAM-1 rs1409419 allele T was found to be protective. Alleles 4a and 4b of NOS3 27 bp VNTR appeared to be respectively associated to stroke risk and protection. HMOX-1 longer STRs seemed to predispose to stroke. Higher hemoglobin F levels were found in Control group, as a result of Senegal haplotype or of BCL11A rs11886868 allele T, and higher lactate dehydrogenase levels, marker of hemolysis, were found in Risk group. Molecular mechanisms underlying the modifier functions of the relevant genetic variants are discussed.

Exploring the consumer decision journey and online shoping experience through an emotional prespective

Traditional consumer decision-making models have long used quantitative research to address a link between emotional and rational behavior. However, little qualitative research has been conducted in the area of online shopping as an end-to-end experience. This study aims to provide a detailed phenomenological account of consumers’ online shopping experience and extend Mckinsey & Companys’s consumer decision journey model from an emotional perspective. Six semi-structured interviews and a focus group of nine people are analyzed using Interpretive Phenomenology Analysis and five superordinate themes emerged from the results: emotional experience, empathy and encouragement, in relation to brand preference, emotional encounters in relation to consumer satisfaction and emotional exchange and relationship with a company or brand. A model interrelating these themes is then introduced to visually represent the emotional essence of a large online purchase. This study promises to be applicable as a descriptive, and perhaps, better predictive report for understanding the complex consumer decision-making process as it relates to online consumer behavior. Future research topics are also identified.

Hexose and pentose transport inascomycetousyeasts: an overview

FEMS Yeast Research, Vol. 9, nº 4

Chromosomal structure: a selectable trait for evolution

Dissertation presented to obtain the Ph.D degree in Evolutionary Biology

Signal transduction pathways involving the hypertension-related WNK1 and WNK4 protein kinases

Dissertação apresentada para obtenção do Grau de Doutor em Biologia, na especialidade de Genética Molecular, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

O impacto da fase pré-analítica nos resultados : de que modo a fase pré-analítica pode interferir nos resultados de um trabalho de investigação

RESUMO: O impacto da fase pré-analítica nos resultados é o objectivo do nosso trabalho. Considera-se que esta fase é a mais importante no procedimento do teste no laboratório e que as variáveis independentes do laboratório são difíceis de controlar porque existem várias condicionantes quer dos profissionais, quer do doente, que por vezes não possibilita atribuir a importância desejada para que os resultados sejam fiáveis. De que modo a fase pré-analítica pode interferir nos resultados de um trabalho de investigação. Para podermos avaliar este processo é necessário considerar outra condicionante, nomeadamente, o facto de o teste ser realizado em laboratórios específicos com a qualidade certificada mas que não intervêm na colheita, manuseamento, armazenamento e transporte da amostra, procedimentos importantes que traduzem uma boa gestão da amostra na fase pré-analítica, necessária para a fiabilidade dos resultados dos estudos de investigação clínica.------------------ABSTRACT: The impact of pre-analytical phase in the results is the objective of our work Knowing that, this is the most important stage in the procedure of testing in the laboratory and because the independent variables the laboratory are difficult to control because these are several limitations of both the professional and the patient, sometimes does not assign importance to that desired result are reliable. How the pre-analytical phase can interfere with the result of a research work, there is another constraint to consider the testing process to be performed in individual laboratory with certified quality, but not involved in harvesting, handing, storage and transport of the sample, important procedures that translate a good sample management in the preanalytical phase, necessary for the reliability of results of clinical research studies.

Design and development of a microfluidic platform for use with colorimetric gold nanoprobe assays

Due to the importance and wide applications of the DNA analysis, there is a need to make genetic analysis more available and more affordable. As such, the aim of this PhD thesis is to optimize a colorimetric DNA biosensor based on gold nanoprobes developed in CEMOP by reducing its price and the needed volume of solution without compromising the device sensitivity and reliability, towards the point of care use. Firstly, the price of the biosensor was decreased by replacing the silicon photodetector by a low cost, solution processed TiO2 photodetector. To further reduce the photodetector price, a novel fabrication method was developed: a cost-effective inkjet printing technology that enabled to increase TiO2 surface area. Secondly, the DNA biosensor was optimized by means of microfluidics that offer advantages of miniaturization, much lower sample/reagents consumption, enhanced system performance and functionality by integrating different components. In the developed microfluidic platform, the optical path length was extended by detecting along the channel and the light was transmitted by optical fibres enabling to guide the light very close to the analysed solution. Microfluidic chip of high aspect ratio (~13), smooth and nearly vertical sidewalls was fabricated in PDMS using a SU-8 mould for patterning. The platform coupled to the gold nanoprobe assay enabled detection of Mycobacterium tuberculosis using 3 8l on DNA solution, i.e. 20 times less than in the previous state-of-the-art. Subsequently, the bio-microfluidic platform was optimized in terms of cost, electrical signal processing and sensitivity to colour variation, yielding 160% improvement of colorimetric AuNPs analysis. Planar microlenses were incorporated to converge light into the sample and then to the output fibre core increasing 6 times the signal-to-losses ratio. The optimized platform enabled detection of single nucleotide polymorphism related with obesity risk (FTO) using target DNA concentration below the limit of detection of the conventionally used microplate reader (i.e. 15 ng/μl) with 10 times lower solution volume (3 μl). The combination of the unique optical properties of gold nanoprobes with microfluidic platform resulted in sensitive and accurate sensor for single nucleotide polymorphism detection operating using small volumes of solutions and without the need for substrate functionalization or sophisticated instrumentation. Simultaneously, to enable on chip reagents mixing, a PDMS micromixer was developed and optimized for the highest efficiency, low pressure drop and short mixing length. The optimized device shows 80% of mixing efficiency at Re = 0.1 in 2.5 mm long mixer with the pressure drop of 6 Pa, satisfying requirements for the application in the microfluidic platform for DNA analysis.

O papel das Redes Sociais como ferramenta de Marketing: Um estudo das empresas B2B nacionais

O objetivo deste estudo é explorar o impacto e benefícios das redes sociais no setor business-to-business (B2B) – um fenómeno recente e que, por isso, constituiu uma área ainda pouco explorada em termos académicos, particularmente em Portugal. Com base num inquérito realizado a 100 empresas portuguesas a operar em contexto B2B, este estudo demonstra claramente que os benefícios das redes sociais não são exclusivos das empresas business-to-consumer (B2C), contrariando assim a convicção que a aposta nestas plataformas constitui um desperdício para os mercados B2B. As empresas foram aliás unânimes em reconhecer a importância das redes sociais, contudo, nem todas parecem beneficiar ao máximo destas plataformas. Concluiu-se que, mais do que a área ou setor de atuação, fatores como o planeamento e compromisso determinam os resultados obtidos nas redes sociais. Evidência disso mesmo é o facto de 70% das empresas que atualizam o perfil do Facebook diariamente afirmarem já ter conseguido novas oportunidades de negócio com base em contactos feitos através das redes sociais, sendo que esta percentagem diminui consideravelmente (37%) quando se consideram as restantes empresas, com atualização menos frequente. Contudo, fica claro também que as empresas B2B portuguesas parecem não utilizar as redes sociais como veículo primordial para alcançar novas oportunidades de negócio, mas sim para desenvolver a notoriedade e imagem da marca, bem como aumentar o envolvimento e as experiências positivas com os clientes e potenciais clientes. Este estudo revela assim que, em contexto B2B, as empresas portuguesas encontram-se ativamente a fazer negócios através das redes sociais, embora exista ainda margem para se desenvolverem e tirarem ainda mais partido destas plataformas.

As práticas comerciais desleais

The following study aims to examine a controversial and relatively unexplored subject within our system: the legal framework on unfair business-to-consumer commercial practices. Given the fact that this subject is based on the Directive 2005/29/EC, we considered to be appropriate to explore, firstly, the background and origin of such normative instrument. Nevertheless, we have centered our analysis on the interpretation of the set rules established by the Portuguese legal system (Law nr 57/2008, March 26th). For this dissertation, we have proposed a model of tripartite approach. Chapter V seeks to shed light on the general clause by analyzing a set of open concepts such as professional diligence, honest market practice, good faith or material distortion of the consumer’s economic behavior. In chapter VI, we will focus on two common types of unfair commercial practices: misleading and aggressive practices. Finally, due to the fact that chapter VII deals with the black list, we have illustrated the listed practices by giving real life examples. Taking into account the indefinite concepts used in the general prohibition and in the misleading and aggressive clauses, it is particularly difficult to demonstrate the unfairness of the professional’s behavior. In the light of this information, we have concluded that the regime fails on achieving its main goal: it does not protect proper and effectively the consumer’s interests.

Períodos de Fidelização

This dissertation aims to study the loyalty clauses present in most of the long lasting service contracts. We introduce its main features and the consequences that arise from breaching of contract. We analyze the presence of loyalty periods in the Portuguese legislation. In this sense, we discuss Decree-Law 446/85, Law 24/96, Decree-Law 57/2008 and Decree-Law 56/2010. The loyalty period is the minimum period of time for which the contract should be maintained. In most cases, when this obligation is not fulfilled a penalty clause is set, intending to push the weaker party to comply with the contract or sanction it when the party fails to do so. We conclude that the contractual relationship where there is a loyalty period is usually an unbalanced relationship because it only protects the interest of one party. The penalty clause should not be admitted between parties with unequal bargaining powers. The contractual imbalance is not limited to consumer contracts.

A protecção jurídica do consumidor em Angola

The scope of the present work is to study the legal protection conferred upon the consumer in Angola, especially as regards electronic communication agreements. Its purpose is to promote consumers’ rights and contribute to its defence given the relatively privileged position of professionals in their relationship with consumers. With this in mind, we have made a description of the Consumer Law in Angola based on the Angolan Constitution (as the law that establishes the fundamental rights and guarantees of citizens) and on the Consumer’s Defence Law, which, as the basic law regarding consumers’ rights, provides the framework for this dissertation. We have analysed several aspects relating to consumer relationships, starting from its concept and rights of consumers and covering the legal and contractual mechanisms put in place for their protection. We have also analysed the Advertising Law with a view to better understand consumer’s rights before advertising campaigns carried out by professionals whilst promoting their goods and services and, additionally, to understand the duties and principles that shall be complied with in such campaigns with the purpose to protect the rights and interests of consumers. From a criminal point of view, we have briefly covered the crimes against consumers provided for in the Penal Code and the Law of Infractions against the Economy. In the second part of this work, we have summarised the institutions that protect the rights and interests of consumers, which include the Public Prosecutor Office, the National Institute for the Defence of the Consumers and the Consumers’ Associations. The third and last part of this work covers electronic communications agreements. Given the fact that there is no specific legislation in this matter, our analysis was based on the Civil Code – specifically the part relating to contracts – the Law on General Contractual Terms and Conditions and the Consumer’s Defence Law. We have analysed the formation of contracts, compliance and consumers’ rights resulting from contract breach. We further have appealed to the Angolan legislator to legislate certain aspects of consumer relationships, especially those where breach of consumers’ rights are blatant and facilitated by the lack of specific laws addressing such cases.