Estudo Estratigráfico e Paleontológico do Jurássico do Algarve Ocidental

Algarve Province, Southern Portugal, corresponds in part to a meso-cenozoic basin running along the coast from Cabo S. Vicente to beyond Spanish border. Structurally it is a big monocline plunging southwards much deformed mainly by two East-West longitudinal flexures. Lithostratigraphical and chronostratigraphical studies dealt specially with Jurassic formations. This and the geological mapping of the post-Hercynian sedimentary formations allow us to define the following units: Triassic-Lower Liassic Arenitos de Silves (Silves sandstones sensu P. Choffat, pro parte) - At their base the Silves sandstones (0-150m) are represented mainly by cross-bedded red sandstones. This unit is Upper Triassic (Keuper) in age, on the evidence of some Brachiopoda. Complexo margo-carbonatado de Silves (Silves marl-limestone complex=Silves sandstones sensu P. Choffat, pro parte) (80-200m) overlies the preceding, it may be reported to the Upper Triassic-Hettangian. It consists of a thick pelite-marl-dolomite-limestone series with many intercalations of greenstones. Since no fossils were found it is not possible to conclude whether it is still Hettangian or if it does correspond, in the whole or in part, already to the Sinemurian. Liassic Dolomitos e calcários dolomíticos de Espiche (Espiche dolomite-rocks and dolomitic-limestones) - The usually massive and finely crystalline or saccharoidal dolomites and dolomitic-limestones are the toughest strata of the Algarve margin giving rise to several hills. Its thickness attains in certain points 60 metres at least. Based on geometry and on lithological similarities with the carbonated complex of the northern basin of Tagus river (Peniche, São Pedro de Muel, Quiaios), this formation can be accepted as Sinemurian in age. As it happens with the carbonated complex, here also the first dolomite beds are non-isochronal throughout the region; upper time-limit of the dolomitic facies is either Lower Carixian, Lower Toarcian or even Lower Dogger. The dolomitization is secondary but not much later than sedimentation. However, between Cabo S. Vicente-Vila do Bispo there is evidence of an even later secondary dolomitization related to the regional fault complex. Calcário dolomítico com nódulos de silex da praia de Belixe (Belixe beach dolomitic-limestone with silex nodules) (50-55m) - Ascribed to Lower or Middle Carixian on the basis of Platypleuroceras sp., Metaderoceras sp. nov. and M. gr. Venarense. Calcário cristalino compacto com Protogrammoceras, Fuciniceras e ? Argutarpites de Belixe (Belixe compact crystalline limestone with Protogrammoceras, Fuciniceras and ? Argutarpites) (30m) - Ascribed to Lower Domerian. Middle and Upper Domerian are indicated but by a single specimen of ? Argutarpites. Calcários margosos e margas com Dactylioceras semicelatum e Harpoceratídeos de Armação Nova (Armação Nova marly limestones and marls with D. semicelatum and Harpoceratidae) (25m) -Ascribed to Lower Toarcian. Middle and Upper Toarcian formations are not known in the Algarve. Dogger Calcários oolíticos, c. corálicos, c. pisolíticos, c. calciclásticos, c. dolomíticos e dolomitos de Almadena (Almadena oolitic-limestones, coral-reef-limestones, pisolite-limestones, limeclastic-limestones, dolomitic-limestones and dolomite-rocks) (more than 50 metres), with lagoonal facies. Ascribed to Aalenian-Bathonian-? Callovian. Margas acinzentadas e calcários detríticos com Zoophycos da praia de Mareta (Mareta beach greyish marls and detritical limestones with Zoophycos) (40m) - Pelagic transreef facies with Upper Bajocian and Bathonian ammonites. Calcários margosos e margas da praia de Mareta (Mareta beach pelagic marly-limestones and marls) (110m) - Ascribed to the Callovian on its ammonites. Malm Near Cabo S. Vicente and Sagres the first Upper Jurassic level consists of a yellowish-brown nodular, compact, locally phosphated and ferruginous, sometimes conglomeratic, marly limestone (0,35-1,50m) containing a rich macrofauna, which includes: 1) Callovian forms unknown at Lower Oxfordian; 2) Upper Callovian forms that still survived in Lower and Middle Oxfordian; 3) Lower Oxfordian forms (Mariae and Cordatum Zones); 4) Lower and Middle Oxfordian forms (Mariae to Plicatilis Zone); 5) Middle Oxfordian forms (plicatilis Zone), and some ones appearing in Middle Oxfordian. This condensed deposit is therefore dated from Middle Oxfordian (Plicatilis Zone). The other Upper Jurassic lithostratigraphical units were also mapped but their detailed study is not presented in this work. Correlations between lithostratigraphical and chronostratigraphical scales from P. Choffat, J. Pratsch, C. Palain and from the author are stated. Further correlations are attempted between zonc scales of Carixian-Lower Toarcian and Upper Bajocian-Middle Oxfordian of France, Spain (Asturias, Iberian and Betic Chains), Argel (Orania) and Portugal (northern Tagus basin and Algarve). The study of pyritous fossil assemblages common in Upper Bathonian-Lower Callovian marly levels of the praia da Mareta seems to suggest that these sediments were deposited in a bay or in an almost closed coastal re-entrance virtually without deep water circulation. Although such conditions may occur at any depth one may suppose that these ones actually correspond to an infralittoral neritic environment. The thaphocoenosis collected there are almost entirely composed of nektonic (ammonites, Belemnites) and planktonic (Bositra) faunas. The sedentary (crinoids, brachiopods) or free (sea-urchins, gastropods) epibenthonic forms are very scarce; endobenthonic forms are not known. The palaeontological study of all Nautiloids and Ammonoids of the Liassic and Dogger is presented (except Kosmoceratidae and Perisphinctaceae). Among the thirty one taxa dealt with, one is new (Metaderoceras sp. nov.) and the great majority of the others has been identified for the first time in Algarve. Some others have never been reported before in Portuguese formations. The evolution, during Jurassic times, of the sedimentary basins of the Portuguese plate margin is described. The absence of Cephalopods in the very extensive marly and dolomitic limestones, partly marine, suggests that, during Lower Liassic, palaeogeography underwent no great changes. Dolomitic-limestone with silex nodules from Cabo S. Vicente contain the first ammonites recorded at the base of the Middle Liassic. This facies, although very common in Tethys, is unknown north of the Tagus. The faunal assemblage has a mediterranean to submediterranean character. Comparisons between faunal assemblage" from Algarve with the ones known north of the Tagus show that communications between Boreal Europe and Tethys, virtually non-existent during Lower and Middle Carixian, became very easy during Lower Domerian. In earlier Pliensbachian times two distinct seas were adjacent to the Iberian plate. One, an epicontinental sea with a tethyan fauna, extended southwards from the Meseta margin. Another, was a boreal sea; during its transgressive episodes boreal faunas attained into the basin north of the Tagus. During Middle Carixian and Lower Domerian, owing to simultaneous transgressions, these two seas joined together allowing faunal exchanges along the epicontinental areas which limited the emerging hercynian chains belts. During Liassic, the Algarve belonged undoubtedly to the tethyan submediterranean province. The area north of the Tagus, on the contrary, was a complex realm where subboreal and tethyan affinities alternatively prevailed. In the Algarve the first Middle Jurassic deposits do frequently show lateral thickness reductions as well as unconformities contemporaneous with other generalized disturbances on the sedimentation processes in other parts of Europe. By this time, near Sagres, a barrier reef developed separating lagoonal or ante-reef facies from the transreef pelagic zone. The presence of tethyan fauna, the abundance of Phylloceratidae and the absence of boreal forms allow us to consider the Algarve basin as a submediterranean province. The presence of Callovian pelagic fossiliferous formations in the Loulé area shows that during Middle Jurassic the marl-limestone transreef sedimentation was not confined to the western Algarve. They would extend eastwards where they only can be seen in the core of some anticlines. This is due to the progressive sinking of the meso-cenozoic formations as we proceed towards the South of the Sagres-Algoz-Querença flexure. In the whole of the Peninsule, and as for the Middle Callovian, an important regression can be clearly recognized on the evidence of an erosion surface which strikes obliquely the Middle and Upper Callovian strata. The geographic boundaries of the different faunal provinces are not changed by the presence of many Kosmoceratidae in the phosphate nodules since they are but a minority in comparison with the tethyan forms. An abstract model can be constructed showing that in Western Europe the Kosmoceratidae may have migrated South and westwards through a channel of the sea that linked Paris basin to Poitou and Aquitaine. By migrating between the Iberian meseta and the Armorican massif this fauna reached northern Tagus basin at the beginning of Upper Callovian (Athleta Zone); this south and southwest bound migration would have proceeded, allowing such forms to reach Algarve basin only in latest Callovian times (Lamberti Zone). This migration means that during Middle Jurassic a widely spread North Atlantic sea would exist, flooding the western part of Portugal up to the Poitou.

Faciès, biostratigraphie et paléogéographie du Jurassique portugais

The facies distribution along the Jurassic stages in an already well established stratigraphic frame is defined for the three portuguese basins: North of Tagus, Santiago de Cacém and Algarve. The deposits are organized in two sedimentary cycles. The first one from the Liassic to Calovian shows, in the Tagus Basin, a transgression from NW which did not surpass the Meseta present limits. The iniatilly brackish deposits only changed to marine by the end of Lotharingian. The sedimentation, mainly marly during the Liassic became more calcareous since the Aalenian. During the Dogger the basin differentiated into platform deposits towards East and South and open sea zone towards West. This zone underwent a progressive reduction and, during the Callovian, two small basins were individualized: Cabo Mondego basin in the North and Serra de El-Rei-Montejunto in the South. It is from the latter that the second sedimentary cycle (Middle Oxfordian-Portlandian) developed with open sea deposits along the Sintra–Torres Vedras axis surrounded by platform and litoral brackish formations. During the first sedimentary cycle only litoral platform deposits are known in Santiago de Cacém and Algarve basins. During the second sedimentary cycle temporary sea open deposits are known in Santiago de Cacém and Central Algarve.

Plantas do Neogénico e paleoclimas. Evidências em Portugal

Ciências Geológicas: Ensino e Investigação. Vol. I: 357-363

Palaeontological data about the climatic trends from Chattian to present along the Northeastern Atlantic frontage

Climatic changes that affected the Northeastern Atlantic frontage are analyzed on the basis of the evolution of faunas and floras from the late Oligocene onwards. The study deals with calcareous nannoplankton, marine micro- and macrofaunas, some terrestrial vertebrates and vegetal assemblages. The climate, first tropical, underwent a progressive cooling (North-South thermic gradient). Notable climatic deteriorations (withdrawal towards the South or disappearance of taxa indicative of warm climate and appearance of "cold" taxa) are evidenced mainly during the Middle Miocene and the late Pliocene. Faunas and floras of modern pattern have regained, after the Pleistocene glaciations, a new climatic ranging of a temperate type in the northern part.

The impact of CdSe/ZnS Quantum Dots in cells of Medicago sativa in suspension culture

Abstract Background: Nanotechnology has the potential to provide agriculture with new tools that may be used in the rapid detection and molecular treatment of diseases and enhancement of plant ability to absorb nutrients, among others. Data on nanoparticle toxicity in plants is largely heterogeneous with a diversity of physicochemical parameters reported, which difficult generalizations. Here a cell biology approach was used to evaluate the impact of Quantum Dots (QDs) nanocrystals on plant cells, including their effect on cell growth, cell viability, oxidative stress and ROS accumulation, besides their cytomobility. Results: A plant cell suspension culture of Medicago sativa was settled for the assessment of the impact of the addition of mercaptopropanoic acid coated CdSe/ZnS QDs. Cell growth was significantly reduced when 100 mM of mercaptopropanoic acid -QDs was added during the exponential growth phase, with less than 50% of the cells viable 72 hours after mercaptopropanoic acid -QDs addition. They were up taken by Medicago sativa cells and accumulated in the cytoplasm and nucleus as revealed by optical thin confocal imaging. As part of the cellular response to internalization, Medicago sativa cells were found to increase the production of Reactive Oxygen Species (ROS) in a dose and time dependent manner. Using the fluorescent dye H2DCFDA it was observable that mercaptopropanoic acid-QDs concentrations between 5-180 nM led to a progressive and linear increase of ROS accumulation. Conclusions: Our results showed that the extent of mercaptopropanoic acid coated CdSe/ZnS QDs cytotoxicity in plant cells is dependent upon a number of factors including QDs properties, dose and the environmental conditions of administration and that, for Medicago sativa cells, a safe range of 1-5 nM should not be exceeded for biological applications.

Evolution of Iberia during the Cenozoic with special emphasis on the formation of the Betic Cordillera and its relation with the western Mediterranean

The extensional process affecting Iberia during the Triassic and Jurassic times change from the end of the Cretaceous and, throughout the Palaeocene, the displacement between the African and European plates was clearly convergent and part of the future Internal Zone of the Betic Cordillera was affected. To the west, the Atlantic continued to open as a passive margin and, to the north, no significant deformation occurred. During the Eocene, the entire Iberian plate was subjected to compression. which caused major deformations in the Pyrenees and also in the Alpujarride and Nevado-Filabride, Internal Betic, complexes. In the Oligocene continued this situation, but in addition, the new extensional process ocurring in the western Mediterranean area, together with the constant eastward drift of Iberia due to Atlantic opening, compressed the eastern sector of Iberia, giving rise to the structuring of the Iberian Cordillera. The Neogene was the time when the Betic Cordillera reached its fundamental features with the westward displacement of the Betic-Rif Internal Zone, expelled by the progressive opening of the Algerian Basin, opening prolonged till the Alboran Sea. From the late Miocene onwards, all Iberia was affected by a N-S to NNW-SSE compression, combined in many points by a near perpendicular extension. Specially in eastern and southern Iberia a radial extension superposed these compression and extension.

Diagnosis of an EPS module

Dissertação apresentada na Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa para obtenção do grau de Mestre em Engenharia Electrotécnica e Computadores

Sentido de coerência : ligação materno-fetal e estilo de vida da mulher durante a gravidez

RESUMO - Um dos grandes desafios actuais enfrentados pela Saúde Pública diz respeito ao fardo representado pelas doenças crónicas não transmissíveis enquanto co-responsáveis pela maioria das mortes que ocorrem no mundo, pela significativa e progressiva redução da qualidade de vida e aumento das incapacidades dos indivíduos afectados e por uma fasquia bastante elevada das despesas em saúde. Entretanto, a complexa dinâmica genética, biológica, psicológica, afectiva, sócio-cultural e ambiental que envolve o comportamento humano, tão amplamente relacionado com algumas destas doenças – doenças cardiovasculares, alguns tipos de cancro, obesidade, hipertensão, diabetes e doenças osteo-articulares – impõe o desafio constante da busca de novas e efectivas intervenções em promoção da saúde que influenciem positivamente os estilos de vida dos indivíduos, dos grupos e das comunidades. Sendo o sentido de coerência um traço da personalidade do indivíduo desenvolvido sob a influência directa ou indirecta dos mesmo factores acima referidos, o estabelecimento de uma relação entre este constructo e os comportamentos humanos pode revelar-se promissor para a elaboração de novas intervenções em promoção da saúde. Por sua vez, a gravidez, talvez por influência da ligação materno-fetal, pode representar um ponto de viragem na vida da mulher no que respeita ao sentido de coerência e aos comportamentos de saúde e um bom começo na vida do bebé que irá nascer sob a influência dos mesmos. Com a finalidade de contribuir para a construção de intervenções efectivas em promoção da saúde, através da descoberta de prováveis potencialidades salutogénicas dos constructos referidos – sentido de coerência e ligação materno-fetal –, foi desenvolvido um estudo quantitativo, observacional que teve por objectivos: ampliar o conhecimento sobre as mudanças do sentido de coerência no decorrer da vida, especificamente durante a gravidez; ampliar o conhecimento acerca das relações de alguns factores de natureza sócio-demográfica, psico-afectiva e obstétrica com o sentido de coerência das mulheres grávidas e com a ligação materno-fetal; e identificar possíveis relações entre o sentido de coerência, a ligação materno-fetal e o estilo de vida das mulheres grávidas, este último representado pelos hábitos alimentares, consumo de cafeína, consumo de álcool, hábitos tabágicos, prática regular de actividade física e ganho de peso durante a gravidez. O presente relatório descreve a concepção e os resultados deste estudo, que envolveu a uma amostra de 61 mulheres grávidas que estavam a ser acompanhadas nos serviços de saúde materna dos Centros de Saúde de Carnaxide extensão Linda-a-Velha e de Oeiras, no Distrito de Lisboa, Portugal, entre os meses de Fevereiro e Julho de 2005. Os resultados demonstram que, para a amostra de 61 mulheres grávidas que responderam ao inquérito por questionário de auto-resposta, foram encontradas associações estatisticamente significativas entre o sentido de coerência e a escolaridade e entre o sentido de coerência e a percepção do próprio estado de saúde. Além disso, foi encontrada alguma evidência das associações entre o sentido de coerência e a faixa etária, estado civil e rendimento mensal familiar e foi observada alguma tendência para que as mulheres grávidas com níveis de sentido de coerência mais elevados consumissem menos álcool do que as mulheres grávidas com níveis de sentido de coerência inferiores. Entretanto, as demais associações testadas não foram confirmadas. Relativamente à ligação materno-fetal, foram encontradas, para a amostra de 41 mulheres grávidas que participaram do segundo momento de colheita de dados do estudo, entre a 20ª e a 24ª semanas de gravidez, associações estatisticamente significativas com a escolaridade e o nível de rendimento familiar das mulheres grávidas, não tendo sido confirmadas as demais associações testadas. Embora não tenham sido estatisticamente evidenciadas as relações entre o sentido de coerência e a ligação materno-fetal e entre estes e os comportamentos de saúde, o carácter preliminar destes resultados, devido à subjectividade do processo de selecção não probabilístico da amostra estudada e à reduzida dimensão desta amostra, e a escassez de estudos descritos na literatura fazem com que seja prudente a realização de estudos de follow-up, com amostras de maiores dimensões, aleatórias e representativas da população, para que sejam estabelecidas quaisquer conclusões acerca destas questões.-----------------------------ABSTRACT - One of the greatest challenges faced by Public Health in nowadays is the burden represented by chronic diseases as co-responsible for the majority of deaths that occurs in the world, for the meaningful and progressive reduction of quality of life and increase of disabilities in affected individuals and for an important part of health expenses. However, the complexity of the genetic, biological, psychological, emotional, social, cultural and environmental dynamics that involves human behaviours related to some of these diseases – cardiovascular diseases, some kind of cancers, obesity, hypertension, diabetes and joint and bone diseases – poses the continuous challenge of searching for new and effective interventions of health promotion that positively influence individuals, groups and community lifestyles. Due to the fact that sense of coherence is an individual personality trace directly or indirectly influenced by the same factors listed above, the discovery of a relationship between this construct and human behaviours might be promising to the creation of new health promotion interventions. On the other hand, pregnancy may represent a turn point to the mother’s life and a good start in the baby’s life in relation to sense of coherence and health behaviours and It might occur because of the influence of maternal-fetal attachment. With the purpose of contributing with the creation of effective health promotion interventions through the discovery of probable salutogenic potentials in the referred constructs – sense of coherence and maternal-fetal attachment – , it was developed a quantitative observational study with the following objectives: to increase knowledge about changes in sense of coherence throughout life, specifically during pregnancy; to increase knowledge about the relationship between sense of coherence and maternal-fetal attachment and some social, demographical, psychological, emotional and obstetric factors of pregnant women; to identify probable relationships between sense of coherence, maternal-fetal attachment and pregnant women’s lifestyles, represented by diet habits, caffeine consumption, alcohol consumption, smoking habits, physical activity habits and weigh gain during pregnancy. This report describes the structure and the findings of this study involving a sample of 61 pregnant women who had been followed by health professionals in the mother health services of Carnaxide (Linda-a-Velha unity) and Oeiras Health Centres, in Lisbon, Portugal, between February and July of 2005. The results show that, for the 61 pregnant women who filled the self-reported questionnaire, it was found a statistically significant association between sense of coherence and education level. It was also found some evidence of the associations between sense of coherence and age, marital status and mensal household income and a trend toward pregnant women with higher levels of sense of coherence to drink less alcoholic beverages than pregnant women with lower levels of sense of coherence. However, the others associations tested were not confirmed. Regarding maternal-fetal attachment, it was found, for the sample of 41 women who participated in the second moment of data collection, between the 20th and the 24th week of pregnancy, statistically significant associations with education level and mensal household income. The others associations tested were not confirmed. Although the associations between sense of coherence and maternal-fetal attachment and between these constructs and health behaviours were not confirmed, all findings presented here are considered preliminary because of small dimension of sample and non-probabilistic criteria used for sample selection. What’s more, there are almost no studies described in the literature which could confirm or contradict these findings. Therefore, it is better to be careful and develop follow-up studies, with bigger and representative of population samples, before draw any conclusions about these theme.

Models for pheromone evaluation in Ant Systems for Mobile Ad-hoc networks

On a mobile ad-hoc network environment, where the resources are scarce, the knowledge about the network's link state is essential to optimize the routing procedures. This paper presents a study about different pheromone evaluation models and how they react to possible changes in traffic rate. Observing how the pheromone value on a link changes, it could be possible to identify certain patterns which can indicate the path status. For this study, the behavior of the Ant System evaluation model was compared with a Temporal Active Pheromone model (a biological approach) and a Progressive Pheromone Reduction model with and without a maximum pheromone limit.

Os cânticos mágicos dos peregrinos do som: o rock "sinfónico/progressivo" na senda da autonomização dos estilos do rock em Portugal na dácada de 70

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Ciências Musicais, variante de Etnomusicologia

Ankylosing spondylitis: genomic and functional characterization of candidate genes and their repercussion in clinical practice

RESUMO: Introdução: A espondilite anquilosante (EA) é uma doença inflamatória crónica caracterizada pela inflamação das articulações sacroilíacas e da coluna. A anquilose progressiva motiva uma deterioração gradual da função física e da qualidade de vida. O diagnóstico e o tratamento precoces podem contribuir para um melhor prognóstico. Neste contexto, a identificação de biomarcadores, assume-se como sendo muito útil para a prática clínica e representa hoje um grande desafio para a comunidade científica. Objetivos: Este estudo teve como objetivos: 1 - caracterizar a EA em Portugal; 2 - investigar possíveis associações entre genes, MHC e não-MHC, com a suscetibilidade e as características fenotípicas da EA; 3 - identificar genes candidatos associados a EA através da tecnologia de microarray. Material e Métodos: Foram recrutados doentes com EA, de acordo com os critérios modificados de Nova Iorque, nas consultas de Reumatologia dos diferentes hospitais participantes. Colecionaram-se dados demográficos, clínicos e radiológicos e colhidas amostras de sangue periférico. Selecionaram-se de forma aleatória, doentes HLA-B27 positivos, os quais foram tipados em termos de HLA classe I e II por PCR-rSSOP. Os haplótipos HLA estendidos foram estimados pelo algoritmo Expectation Maximization com recurso ao software Arlequin v3.11. As variantes alélicas dos genes IL23R, ERAP1 e ANKH foram estudadas através de ensaios de discriminação alélica TaqMan. A análise de associação foi realizada utilizando testes da Cochrane-Armitage e de regressão linear, tal como implementado pelo PLINK, para variáveis qualitativas e quantitativas, respetivamente. O estudo de expressão génica foi realizado por Illumina HT-12 Whole-Genome Expression BeadChips. Os genes candidatos foram validados usando qPCR-based TaqMan Low Density Arrays (TLDAs). Resultados: Foram incluídos 369 doentes (62,3% do sexo masculino, com idade média de 45,4 ± 13,2 anos, duração média da doença de 11,4 ± 10,5 anos). No momento da avaliação, 49,9% tinham doença axial, 2,4% periférica, 40,9% mista e 7,1% entesopática. A uveíte anterior aguda (33,6%) foi a manifestação extra-articular mais comum. Foram positivos para o HLA-B27, 80,3% dos doentes. Os haplótipo A*02/B*27/Cw*02/DRB1*01/DQB1*05 parece conferir suscetibilidade para a EA, e o A*02/B*27/Cw*01/DRB1*08/DQB1*04 parece conferir proteção em termos de atividade, repercussão funcional e radiológica da doença. Três variantes (2 para IL23R e 1 para ERAP1) mostraram significativa associação com a doença, confirmando a associação destes genes com a EA na população Portuguesa. O mesmo não se verificou com as variantes estudadas do ANKH. Não se verificou associação entre as variantes génicas não-MHC e as manifestações clínicas da EA. Foi identificado um perfil de expressão génica para a EA, tendo sido validados catorze genes - alguns têm um papel bem documentado em termos de inflamação, outros no metabolismo da cartilagem e do osso. Conclusões: Foi estabelecido um perfil demográfico e clínico dos doentes com EA em Portugal. A identificação de variantes génicas e de um perfil de expressão contribuem para uma melhor compreensão da sua fisiopatologia e podem ser úteis para estabelecer modelos com relevância em termos de diagnóstico, prognóstico e orientação terapêutica dos doentes. -----------ABSTRACT: Background: Ankylosing Spondylitis (AS) is a chronic inflammatory disorder characterized by inflammation in the spine and sacroiliac joints leading to progressive joint ankylosis and in progressive deterioration of physical function and quality of life. An early diagnosis and early therapy may contribute to a better prognosis. The identification of biomarkers would be helpful and represents a great challenge for the scientific community. Objectives: The present study had the following aims: 1- to characterize the pattern of AS in Portuguese patients; 2- to investigate MHC and non-MHC gene associations with susceptibility and phenotypic features of AS and; 3- to identify candidate genes associated with AS by means of whole-genome microarray. Material and Methods: AS was defined in accordance to the modified New York criteria and AS cases were recruited from hospital outcares patient clinics. Demographic and clinical data were recorded and blood samples collected. A random group of HLA-B27 positive patients and controls were selected and typed for HLA class I and II by PCR-rSSOP. The extended HLA haplotypes were estimated by Expectation Maximization Algorithm using Arlequin v3.11 software. Genotyping of IL23R, ERAP1 and ANKH allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests as implemented in PLINK, for dichotomous and quantitative variables, respectively. Gene expression profile was carried out using Illumina HT-12 Whole-Genome Expression BeadChips and candidate genes were validated using qPCR-based TaqMan Low Density Arrays (TLDAs). Results: A total of 369 patients (62.3% male; mean age 45.4±13.2 years; mean disease duration 11.4±10.5 years), were included. Regarding clinical disease pattern, at the time of assessment, 49.9% had axial disease, 2.4% peripheral disease, 40.9% mixed disease and 7.1% isolated enthesopathic disease. Acute anterior uveitis (33.6%) was the most common extra-articular manifestation. 80.3% of AS patients were HLA-B27 positive. The haplotype A*02/B*27/Cw*02/DRB1*01/DQB1*05 seems to confer susceptibility to AS, whereas A*02/B*27/Cw*01/DRB1*08/DQB1*04 seems to provide protection in terms of disease activity, functional and radiological repercussion. Three markers (two for IL23R and one for ERAP1) showed significant single-locus disease associations. Association of these genes with AS in the Portuguese population was confirmed, whereas ANKH markers studied did not show an association with AS. No association was seen between non-MHC genes and clinical manifestations of AS. A gene expression signature for AS was established; among the fourteen validated genes, a number of them have a well-documented inflammatory role or in modulation of cartilage and bone metabolism. Conclusions: A demographic and clinical profile of patients with AS in Portugal was established. Identification of genetic variants of target genes as well as gene expression signatures could provide a better understanding of AS pathophysiology and could be useful to establish models with relevance in terms of susceptibility, prognosis, and potential therapeutic guidance.

Alterações da função visual e da qualidade de vida relacionada com a saúde em indivíduos idosos

RESUMO: Introdução: A visão é um sentido fundamental na relação do indivíduo com os mais variados ambientes, sendo elemento central na funcionalidade e independência do idoso, qualquer perturbação da função visual provoca limitações na qualidade de vida. As alterações demográficas em curso caracterizam-se pelo envelhecimento progressivo da população, paralelamente constata-se um aumento da prevalência de perturbações do sistema visual com alteração da função e do funcionamento visual. Considerando que os indivíduos idosos são mais dependentes da visão, e que não existem para esta área estudos desenvolvidos em Portugal, esta investigação tem como fundamento analisar a influência que a perturbação da função visual em indivíduos com 65 ou mais anos tem na qualidade de vida relacionada com a saúde. Estudaram-se também as características sócio-demográficas dos indivíduos participantes, da saúde visual e a percepção da saúde geral, bem como identificaram se junto dos idosos participantes e de Médicos especialistas em Medicina Geral e Familiar perspectivas sobre perturbações da função visual e envelhecimento. Desenho de estudo: Estudo transversal, caso-controlo e descritivo-exploratório. Materiais e Métodos: A partir de uma população de 112 indivíduos com 65 ou mais anos, frequentadores de várias instituições de apoio social do Concelho de Loures e de idosos frequentadores/institucionalizados da Mansão de Santa Maria de Marvila, unidade orgânica da Fundação D. Pedro IV, foram incluídos no estudo 90 (80,4%). Após consentimento informado, procedeu-se à avaliação da função visual nos Laboratórios de Ortóptica da Escola Superior de Tecnologia de Saúde de Lisboa, onde também se aplicaram o Questionário de Funcionamento Visual VFQ-25 e uma questão aberta para o tipo de dificuldades de visão sentidas durante o último ano. Aplicou-se ainda, em ambiente virtual, uma pergunta aberta a Médicos especialistas em Medicina Geral e Familiar para aspectos relacionados com o diagnóstico/suspeita relativamente tardio de perturbações da função visual. Procedeu-se ao tratamento descritivo das características sócio-demográficas, da percepção de saúde geral e da saúde visual e das respostas dos idosos e dos médicos. Analisou-se a relação entre função visual e qualidade de vida relacionada com a saúde aplicando o teste não-paramétrico de Mann-Whitney. Resultados: Constatou-se que os indivíduos da amostra são maioritariamente do género feminino (71,1%), casados (41,1%), detentores de baixos níveis de escolaridade em que 63,3% apenas frequentou/concluiu o 1º ciclo do ensino básico e quase na sua totalidade reformados (88,9%). Verifica-se que 77,8% dos idosos percepciona a sua saúde geral como razoável ou boa. Da mesma forma, 86,7% dos indivíduos têm a função visual alterada devido principalmente à alteração da acuidade visual para longe (86,7%), registando-se que 65,5% dos olhos tinham uma acuidade visual igual ou superior a 5/10. Outras dimensões que contribuíram para a alteração da função visual contam-se a sensibilidade ao contraste (63,3%), estereopsia (51,1%), visão cromática (38,9%) e a motilidade ocular (25,6%). Obtiveram-se assim maiores pontuações para as diversas escalas do questionário VFQ-25 em indivíduos com função visual alterada exceptuando nas escalas actividades de perto, condução e dependência. Verificou-se portanto existir relação entre alteração da função visual e perturbação da qualidade de vida relacionada com a saúde. À questão colocada aos idosos, 42,6% não manifestou qualquer razão para que visse mal/sentisse dificuldades de visão durante o último ano. A diminuição da acuidade visual para longe/perto foi referida por 20,5% dos indivíduos, seguido pela deterioração do estado de saúde geral e ocular por 15%. As respostas do Médicos especialistas em Medicina Geral e Familiar sobre razões para a suspeita/diagnóstico relativamente tardia das perturbações da função visual, indicam a iliteracia dos idosos para a saúde da visão e semiologia ocular (34%), a baixa formação/informação dos Médicos de Medicina Geral e Familiar na área da saúde da visão (22%) e a pouca acessibilidade e resposta demorada/ineficaz dos serviços de oftalmologia do SNS (20%) como principais motivos para os assuntos questionados.Conclusões: As alterações do sistema visual com impacto na função e no funcionamento visual alteram a qualidade de vida relacionada com a saúde, devido principalmente à alteração da acuidade visual para longe. Os idosos do estudo não valorizam a saúde visual ao percepcionarem positivamente a saúde geral e a saúde visual relativamente à avaliação da função visual. É fundamental definir estratégias e programas de literacia para a saúde da visão para toda a população, não apenas destinados a idosos. Sugere-se repensar o modelo de formação base dos Médicos com especial incidência na área da saúde da visão, com necessidades sentidas de formação/informação. As respostas obtidas dos idosos e dos Médicos indicaram existir fragilidades na saúde da visão, necessário repensar o modelo de prestação de cuidados de saúde nesta área. Esta investigação permitiu ao autor uma reflexão sobre as temáticas relacionadas com o envelhecimento levando a uma mudança de atitudes e comportamento na abordagem profissional a indivíduos idosos, promovendo autonomia nas escolhas e decisões em questões de saúde, na criação de estratégias para lidar com o problema de visão e na adaptação à nova condição de saúde da visão.---------------ABSTRACT:Purpose: The vision is a fundamental sense in the individual's relationship with the most varied environments, a central element in the functionality and independence of the elderly, any disturbance of visual function causes limitations in quality of life. The current demographic changes are characterized by progressive aging of population, there has been a parallel increase in the prevalence of disorders of the visual system by changing the visual function and functioning. Whereas the elderly are more dependent on vision, and there are no studies in this area developed in Portugal, this research is based analyze the influence that the disturbance of visual function in subjects aged 65 years or more has on the health related quality of life. We studied also the socio-demographic characteristics of the subjects, the eye health and general health perception, and identified themselves with the elderly participants and medical specialists in Family General Medicine perspective on disorders of visual function and aging. Design: Cross-sectional study, case control, descriptive and exploratory. Methods: From a population of 112 people with 65 or more years, regulars of various social welfare institutions of the Municipality of Loures and elderly regulars/institutionalized the Mansion of Santa Maria de Marvila, organic unity of the Foundation D. Pedro IV, were included 90 (80.4%). After informed consent, proceeded to the assessment of visual function in the Laboratories of Orthopticsof the School of Health Technology of Lisbon, where he also applied the Visual Functioning Questionnaire VFQ-25 and an open question for the type of vision difficulties experienced during the last year. Was applied also in a virtual environment, an open question to Doctors specialists in family general medicine related to the diagnosis/suspected relatively late disturbance of visual function. We carried out the descriptive treatment of socio-demographic characteristics, perception of general health and eye health and the responses of older people and doctors. We analyzed the relationship between visual function and quality of life related to health by applying the nonparametric Mann-Whitney test. Results: We found that individuals in the sample are mostly female (71.1%), married (41.1%), holders of low levels of education in which only 63.3% frequented / completed the 1st cycle of primary and almost entirely retired (88.9%). It is found that 77.8% of the elderly perceive their general health as fair or good. Likewise, 86.7% of individuals have altered vision mainly due to the change in visual acuity away (86.7%),up to 65.5% of eyes had a visual acuity of 5/10 or greater. Other dimensions that contributed to the alteration of visual function include contrast sensitivity (63.3%), stereopsis (51.1%), color vision (38.9%) and ocular motility (25.6%). There was thus obtained the highest scores for different scales of the questionnaire VFQ-25 in patients with altered vision except for scales related to near activities, driving and dependence. It is therefore a relationship between alteration in visual function and disturbance of quality of life related to health. To question for the elderly, 42.6% expressed no reason to see evil/feel difficulty seeing over the last year. The decrease in visual acuity for distance/near was reported by 20.5% of subjects, followed by the deterioration of general health and eye for 15%. The responses of medical specialists in general practice about reasons for the suspicion/diagnosis relatively late disturbance of visual function, indicate the illiteracy of the elderly for healthy vision and ocular semiology (34%), low education/information for Doctors in the health of vision (22%) and poor accessibility and response timeconsuming/ inefficient NHS ophthalmology services (20%) as main reasons for the subjects questioned. Conclusion: Changes in the visual system with an impact on visual function and the functioning change the health related quality of life, mainly due to the change in distance visual acuity. Older people do not value the visual health perceiving the general health and eye health positively relatively of visual function. It is essential to define strategies and literacy programs for eye health for the entire population, not just for the elderly. It is suggested reconsider the model of basic training of Doctors with special focus on the health of the vision, with special needs sensed training/information. The responses of older people and doctors have indicated there is weakness in eye health, need to rethink the model of health care in this area. This research allowed the author to reflect on issues related to aging leading to a change in attitudes and behavior in professional approach to the elderly, promoting autonomy in choices and decisions in health issues, creating strategies to deal with the problem of vision and adaptation to new conditions of eye health.

Algorithm for the Parkinson’s disease behavioural models characterization using a biosensor

Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica

Transplante hepático sequencial com preservação da veia cava inferior (técnica de "Duplo Piggyback") : uma técnica original

RESUMO:Desde a declaração de Bethesda em 1983, a transplantação hepática é considerada um processo válido e aceite na prática clínica para muitos doentes com doença hepática terminal, relativamente aos quais não houvesse outra alternativa terapêutica. Em 1991, por proposta de Holmgren, professor de genética, o cirurgião sueco Bo Ericzon realizou em Huntingdon (Estocolmo) o primeiro transplante hepático num doente PAF (Polineuropatia Amilloidótica Familiar), esperando que a substituição do fígado pudesse frenar a evolução da doença. Nesta doença hereditária autossómica dominante, o fígado, apesar de estrutural e funcionalmente normal, produz uma proteína anormal (TTR Met30) responsável pela doença. A partir de então, a transplantação hepática passou a ser a única terapêutica eficaz para estes doentes. Portugal é o país do mundo com mais doentes PAF, tendo sido o médico neurologista português Corino de Andrade quem, em 1951, identificou e descreveu este tipo particular de polineuropatia hereditária, também conhecida por doença de Andrade. Com o início da transplantação hepática programada em Setembro de 1992, o primeiro doente transplantado hepático em Portugal, no Hospital Curry Cabral, foi um doente PAF. Desde logo se percebeu que a competição nas listas de espera em Portugal, entre doentes hepáticos crónicos e doentes PAF viria a ser um problema clínico e ético difícil de compatibilizar. Em 1995, Linhares Furtado, em Coimbra, realizou o primeiro transplante dum fígado dum doente PAF num doente com doença hepática metastática, ficando este tipo de transplante conhecido como transplante sequencial ou “em dominó”. Fê-lo no pressuposto de que o fígado PAF, funcional e estruturalmente normal, apesar de produzir a proteína mutada causadora da doença neurológica, pudesse garantir ao receptor um período razoável de vida livre de sintomas, tal como acontece na história natural desta doença congénita, cujas manifestações clínicas apenas se observam na idade adulta. A técnica cirúrgica mais adequada para transplantar o doente PAF é a técnica de “piggyback”, na qual a hepatectomia é feita mantendo a veia cava do doente, podendo o transplante ser feito sem recorrer a bypass extracorporal. Antes de 2001, para fazerem o transplante sequencial, os diferentes centros alteraram a técnica de hepatectomia no doente PAF, ressecando a cava com o fígado conforme a técnica clássica, recorrendo ao bypass extracorporal. No nosso centro imaginámos e concebemos uma técnica original, com recurso a enxertos venosos, que permitisse ao doente PAF submeter-se à mesma técnica de hepatectomia no transplante, quer ele viesse a ser ou não dador. Essa técnica, por nós utilizada pela primeira vez a nível mundial em 2001, ficou conhecida por Transplante Sequencial em Duplo Piggyback. Este trabalho teve como objectivo procurar saber se a técnica por nós imaginada, concebida e utilizada era reprodutível, se não prejudicava o doente PAF dador e se oferecia ao receptor hepático as mesmas garantias do fígado de cadáver. A nossa série de transplantes realizados em doentes PAF é a maior a nível mundial, assim como o é o número de transplantes sequenciais de fígado. Recorrendo à nossa base de dados desde Setembro de 1992 até Novembro de 2008 procedeu-se à verificação das hipóteses anteriormente enunciadas. Com base na experiência por nós introduzida, a técnica foi reproduzida com êxito em vários centros internacionais de referência, que por si provaram a sua reprodutibilidade. Este sucesso encontra-se publicado por diversos grupos de transplantação hepática a nível mundial. Observámos na nossa série que a sobrevivência dos doentes PAF que foram dadores é ligeiramente superior àqueles que o não foram, embora sem atingir significância estatística. Contudo, quando se analisaram, apenas, estes doentes após a introdução do transplante sequencial no nosso centro, observa-se que existe uma melhor sobrevida nos doentes PAF dadores (sobrevida aos 5 anos de 87% versus 71%, p=0,047).Relativamente aos receptores observámos que existe um benefício a curto prazo em termos de morbi-mortalidade (menor hemorragia peri-operatória) e a longo prazo alguns grupos de doentes apresentaram diferenças de sobrevida, embora sem atingir significância estatística, facto este que pode estar relacionado com a dimensão das amostras parcelares analisadas. Estes grupos são os doentes com cirrose a vírus da hepatite C e os doentes com doença hepática maligna primitiva dentro dos critérios de Milão. Fora do âmbito deste trabalho ficou um aspecto relevante que é a recidiva da doença PAF nos receptores de fígado sequencial e o seu impacto no longo prazo. Em conclusão, o presente trabalho permite afirmar que a técnica por nós introduzida pela primeira vez a nível mundial é exequível e reprodutível e é segura para os doentes dadores de fígado PAF, que não vêem a sua técnica cirúrgica alterada pelo facto de o serem. Os receptores não são, por sua vez, prejudicados por receberem um fígado PAF, havendo mesmo benefícios no pós-operatório imediato e, eventualmente, alguns grupos específicos de doentes podem mesmo ser beneficiados.---------ABSTRACT: Ever since Bethesda statement in 1983, Liver Transplantation has been accepted as a clinical therapeutic procedure for many patients with advanced hepatic failure Holmgren, professor of genetics, suggested that one could expect that transplanting a new liver could lead to improve progressive neurological symptoms of Familial Amyloidotic Polyneuropathy (PAF). Bo Ericzon, the transplant surgeon at Huddinge Hospital in Stockholm, Sweden, did in 1991 the first Liver Transplant on a FAP patient. FAP is an inherited autosomal dominant neurologic disease in which the liver, otherwise structural an functionally normal, produces more than 90% of an abnormal protein (TTR Met30) whose deposits are responsible for symptoms. Liver Transplantation is currently the only efficient therapy available for FAP patients. Portugal is the country in the world where FAP is most prevalent. The Portuguese neurologist Corino de Andrade was the first to recognize in 1951 this particular form of inherited polyneuropathy, which is also known by the name of Andrade disease. Liver Transplantation started as a program in Portugal in September 1992. The first patient transplanted in Lisbon, Hospital Curry Cabral, was a FAP patient. From the beginning we did realize that competition among waiting lists of FAP and Hepatic patients would come to be a complex problem we had to deal with, on clinical and ethical grounds. There was one possible way-out. FAP livers could be of some utility themselves as liver grafts. Anatomically and functionally normal, except for the inherited abnormal trace, those livers could possibly be transplanted in selected hepatic patients. Nevertheless the FAP liver carried with it the ability to produce the mutant TTR protein. One could expect, considering the natural history of the disease that several decades would lapse before the recipient could suffer symptomatic neurologic disease, if at all. In Coimbra, Portugal, Linhares Furtado performed in 1995 the first transplant of a FAP liver to a patient with metastatic malignant disease, as a sequential or “domino” transplant. FAP Liver Transplant patients, because of some dysautonomic labiality and unexpected reactions when they are subjected to surgery, take special advantage when piggyback technique is used for hepatectomy. This technique leaves the vena cava of the patient undisturbed, so that return of blood to the heart is affected minimally, so that veno-venous extracorporeal bypass will not be necessary. The advantages of piggyback technique could not be afforded to FAP patients who became donors for sequential liver transplantation, before we did introduce our liver reconstruction technique in 2001. The hepatectomy took the vena cava together with the liver, which is the classical technique, and the use of extracorporeal veno-venous bypass was of necessity in most cases. The reconstruction technique we developed in our center and used for the first time in the world in 2001 consists in applying venous grafts to the supra-hepatic ostia of piggyback resected FAP livers so that the organ could be grafted to a hepatic patient whose liver was itself resected with preservation of the vena cava. This is the double piggyback sequential transplant of the liver. It is the objective of this thesis to evaluate the results of this technique that we did introduce, first of all that it is reliable and reproducible, secondly that the FAP donor is not subjected to any additional harm during the procedure, and finally that the recipient has the same prospects of a successful transplant as if the liver was collected from a cadaver donor. Our series of liver transplantation on FAP patients and sequential liver transplants represent both the largest experience in the world. To achieve the analysis of the questions mentioned above, we did refer to our data-base from September 1992 to November 2008. The reconstructive technique that we did introduce is feasible: it could be done with success in every case ion our series. It is also reproducible. It has been adopted by many international centers of reference that did mention it in their own publications. We do refer to our data-base in what concerns the safety for the FAP donor.Five years survival of FAP transplanted patients that have been donors (n=190) has been slightly superior to those who were not (n=77), with no statistical significance. However, if we consider five year survival of FAP transplanted patients after the beginning of sequential transplant program in our center, survival is better among those patients whose liver was used as a transplant (87% survival versus 71%, p=0.047). In what concerns recipients of FAP livers: Some short-term benefit of less perioperative morbi-mortality mainly less hemorrhage. In some groups of particular pathologies, there is a strong suggestion of better survival, however the scarcity of numbers make the differences not statistically significant. Patients with cirrhosis HVC (83% versus73%) and patients with primitive hepatic cancer within Milan criteria (survival of 70% versus 58%) are good examples. There is one relevant problem we left beyond discussion in the present work: this is the long-term impact of possible recurrence of FAP symptoms among recipients of sequential transplants. In Conclusion: The reconstruction technique that we did develop and introduce is consistently workable and reproducible. It is safe for FAP donors with the advantage that removal of vena cava can be avoided. Hepatic patients transplanted with those livers suffer no disadvantages and have the benefit of less hemorrhage. There is also a suggestion that survival could be better in cirrhosis HVC and primary liver cancer patients.

Proposion pour un module de cours d'anthropologie de l'espace

Présentation de la thématique: identités locales, régionales et nationales. Définition d’un objet d’étude: les représentations de l’espace. Questions relatives aux transformations qui proviennent de l’augmentation progressive de la mobilité spatiale. Nécessité de repenser les échelles d’approche anthropologique.