New strategies to detect and understand genotype-by-environment interactions and QTL-by-environment interactions

Dissertação para obtenção do Grau de Doutor em Estatística e Gestão do Risco, especialidade em Estatística

Interculturality in the Primary EFL Classroom: Increasing Tolerance through (Inter) Cultural Awareness

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Didáctica do Inglês,

Nós dizemos que eles são como nós precisamos que eles sejam para nos podermos ver como nos vemos. Vicissitudes identitárias nas relações inter-étnicas

Como Calhoun (1996) e Mennell (1996) referem, apesar da atenção acrescida dada às construções, estratégias e políticas da identidade, permanece uma evidente dificuldade de articulação entre diferentes corpora e, nomeadamente, daqueles que derivam da utilização de um nível micro de observação e análise e de um nível de macro-focalização. (í^om base num estudo de caso, tentaremos evidenciar que (a) os processos identitários articulam as duas dimensões de análise e que (b) o nível micro- familiar constitui o referente e o mediador simbôlico-identitário adequado da articulação entre as micro e as macro-perspectivas,^ (c) a partir do qual emerge toda uma gama de idiomas simbólicos (familialistas, instrumentais e morais). O papel desempenhado pela experiência arcaica familiar tem a ver com o facto de que é nesse nível que se cruzam os gêneros e as gerações, se negoceia e gere a dimensão identitária da sexualidade, a moral e a construção diferenciada de identidades categoriais, e são organizadas as primeiras fronteiras entre «nós» e «eles»^, ao mesmo tempo que se vai diferenciando a identidade pessoal, sob a forma da construção do «indivíduo» que será progressivamente confrontado com a transposição projectiva do(s) poder(es) intra-familiar(es) para o nível macro do poder transcendental e dos poderes de Estado.

Das inter-etnicidades em processos de inserção social diferenciadas às dinâmicas do sistema-mundo: uma abordagem estrutural-dinâmica

Em pesquisas anteriores, procurámos mostrar que (i) as representações identitárias possuem uma estrutura multidimensional, cujos níveis (pessoal, bio-cultural, sócio-histórico / político, ideal, «moral», etc.) estão inter-relacionados, e formam um sistema identitário pessoal, se bem que partilhado, em proporções variáveis, com os outros emissores identitários inseridos na mesma categoria sócio-histórica; (ii) sistema identitário esse detentor de potencialidades estratégicas (Kastersztein, 1990) - ideológicas, simbólicas e fantasmáticas -, derivadas da articulação inconsciente entre os diferentes níveis mobilizados. Tentámos evidenciar ainda, no nível mais abrangente das representações identitárias dos grupos sócio-históricos, (iii) como o grau de sobreposição e convergência das atribuições identitárias, tanto ao grupo.de identificação como aos grupos de comparação interactiva, é parcial, indiciando estratégias de maior ou menor distanciação / aproximação identitária inter-nacional ou inter-étnica; (iv) e como, no seu conjunto, as representações identitárias apresentam uma lógica e uma economia retórica, tendenciosa e performativa (pro domo sua), criando para os sujeitos, no interior dos seus grupos, e para os seus grupos identitários, na comparação com os outros, uma imagem de primo inter pares, na medida em que constroiem como «real» o «real identitariamente conveniente» e não aquele que «objectivamente » é «objectivado» (em termos de poder tecnológico, econômico ou militar).

HIV AND HCV COINFECTION: PREVALENCE, ASSOCIATED FACTORS AND GENOTYPE CHARACTERIZATION IN THE MIDWEST REGION OF BRAZIL

A cross-sectional study on prevalence, associated factors and genotype distribution of HCV infection was conducted among 848 HIV-infected patients recruited at reference centers in the Midwest Region of Brazil. The prevalence rate of HIV-HCV coinfection was 6.9% (95% CI: 5.2 to 8.6). In multivariable analysis, increasing age, use of illicit drugs (injection and non-injection), a history of blood transfusion before 1994, and the absence of a steady partnership were significant independent associated factors for HIV-HCV coinfection. The phylogenetic analysis based on the NS5B region revealed the presence of two major circulating genotypes of HCV: genotypes 1 (58.3%) and 3 (41.7%). The prevalence of HIV-HCV coinfection was lower than those reported in studies conducted with HIV-infected patients in different regions of Brazil, due to the fact that illicit drug use is not a frequent mode of HIV transmission in this region of Brazil. Serologic screening of HIV-patients for HCV before initiating antiretroviral treatment, a comprehensive identification of associated factors, and the implementation of effective harm reduction programs are highly recommended to provide useful information for treatment and to prevent HCV coinfection in these patients.

GENOTYPE CHARACTERIZATION OF Leishmania (Viannia) braziliensis ISOLATED FROM HUMAN AND CANINE BIOPSIES WITH AMERICAN CUTANEOUS LEISHMANIASIS

Introduction:American tegumentary leishmaniasis (ATL) can be caused by Leishmania (Viannia) braziliensis complex. The evolution of ATL initially results in lesions and can develop into disseminated or diffuse forms. The genetic diversity of L. (V.) braziliensis in some endemic areas of Brazil has been poorly studied, such as in the state of São Paulo. This study analyzed the genetic diversity of L. (V.) braziliensis isolates collected from patients and dogs with LTA from the state of São Paulo.Methods:Leishmaniasis diagnosis was determined by PCR. The 132 biopsies were collected in different regions of Sao Paulo State, Brazil (36 municipalities). The genetic characterization of L. (V.) braziliensis isolates was tested by RFLP-PCR using DNA extracted from biopsies. The primer set amplified a specific region of Leishmania internal transcribed spacers of the ribosomal DNA locus.Results:Of the 132 samples, 52 (40%) were completely genotyped by RFLP-PCR (44 from human patients and eight from dogs). The results showed nine distinct patterns. The majority of the genotyped samples were from Sorocaba (30), and the others were distributed among 14 other municipalities. The first pattern was more frequent (29 samples), followed by pattern 2 (nine samples) and pattern 3 (three samples). Patterns 4, 6, 7, 8 and 9 were composed of two samples each and pattern 5 of one sample.Conclusion:These results suggest that polymorphic strains of L. (V.) braziliensis circulate in the state of São Paulo. These data agree with studies from other regions of Brazil, showing great variability among the natural populations of endemic foci.

Ambivalent Islam: the identity construction of Muslims under Portuguese colonial rule

This article wishes to contribute to the study of the historical processes that have been spotting Muslim populations as favourite targets for political analysis and governance. Focusing on the Portuguese archives, civil as well as military, the article tries to uncover the most conspicuous identity representations (mainly negative or ambivalent) that members of Portuguese colonial apparatus built around Muslim communities living in African colonies, particularly in Guinea- Bissau and Mozambique. The paper shows how these culturally and politically constructed images were related to the more general strategies by which Portuguese imagined their own national identity, both as ‘European’ and as ‘coloniser’ or ‘imperial people’. The basic assumption of this article is that policies enforced in a context of interethnic and religious competition are better understood when linked to the identity strategies inherent to them. These are conceived as strategic constructions aimed at the preservation, protection and imaginary expansion of the subject, who looks for groups to be included in and out-groups to reject, exclude, aggress or eliminate. The author argues that most of the inter-ethnic relationships and conflicts, as well as the very experience of ethnicity, are born from this identity matrix.

Prisão com fronteiras: relações inter-étnicas em meio prisional. Estudo de caso no estabelecimento prisional de Carregueira

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Migrações, Inter-etnicidades e Transnacionalismo

Multipath inter-domain policy routing

Dissertação submetida para a obtenção do grau de Doutor em Engenharia Electrotécnica e de Computadores

Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis

OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status. RESULTS: In total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) µg/L, P<0.001], higher median transferrin saturation [80% (IQR 66 to 91%) vs. 63% (55 to 72%), P<0.001]) and lower median BMI [24.8 (22.1 to 26.9) vs. 26.2 (23.5 to 30.3) kg/m2, P<0.003]. The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than compound heterozygosity (53.4% vs. 32.5%; adjusted odds ratio [aOR] 2.4 [95% confidence interval 1.2-5.0]), as was self-reported OP (25.6% vs. 7.5%; aOR 3.5 [1.1-12.1]). CONCLUSION: Patients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.

Competition policy costs to firms

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.

Directed Giving: Evidence from an Inter-Household Transfer Experiment*

We investigate the determinants of giving in a lab-in-the-field experiment with large stakes. Study participants in urban Mozambique play dictator games where their counterpart is the closest person to them outside their household. Dictators share more with counterparts when they have the option of giving in kind (in the form of goods), compared to giving that must be in cash. Qualitative post-experiment responses suggest that this effect is driven by a desire to control how recipients use gifted resources. Standard economic determinants such as the rate of return to giving and the size of the endowment also affect giving, but the effects of even large changes in these determinants are significantly smaller than the effect of the in-kind option. Our results support theories of giving where the utility of givers depends on the composition (not just the level) of gift-recipient expenditures, and givers thus seek control over transferred resources.