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Cardiovascular accidents are the most disabling event for pilots, causing complicated situations during flight and the withdrawal of license. The study aims to assess the modifiable risk factors and the atherogenic index of plasma (AIP) associated with anthropometric, physiometabolic and lifestyle profiles in a sample of Spanish aviation pilots. Data from pilots’ clinical and professional history, anthropometric and bioelectrical impedance assessments of nutritional status, and diet and physical activity questionnaires. The sample comprised 304 men pilots. Up to 53.6% showed excess weight, of which 6.4% were obese, 64.3% presented high relative adiposity and 64.6% showed abdominal obesity. Regarding the physiometabolic profile, 10.0% had hypertension, 42.6% hypercholesterolemia, 9.4% high LDL and 10.6% low HDL, 9.4% hyperglycemia and 8.1% hypertriglyceridemia. The adherence to the Mediterranean diet (MedDiet) was high in 29.7% and low in 14.7%. Most of the sample showed a good physical activity level. The AIP risk increased with higher obesity indicators and LDL cholesterol levels. There was an inverse relationship between the MedDiet adherence and vigorous physical activity and the risk of atherogenicity. Elevated rates of overweight, abdominal obesity and hypercholesterolemia were found, contributing to the atherogenic risk of plasma (AIP). This parameter was significantly associated with all anthropometric indicators and LDL cholesterol. Prevention plans on reducing excess fat and blood cholesterol levels are recommended to reduce cardiovascular risk in Spanish aviation pilots and ensure flight safety.

Mountain gorillas are particularly inbred compared to other gorillas and even the most inbred human populations. As mountain gorilla skeletal material accumulated during the 1970s, researchers noted their pronounced facial asymmetry and hypothesized that it reflects a population-wide chewing side preference. However, asymmetry has also been linked to environmental and genetic stress in experimental models. Here, we examine facial asymmetry in 114 crania from three Gorilla subspecies using 3D geometric morphometrics. We measure fluctuating asymmetry (FA), defined as random deviations from perfect symmetry, and population-specific patterns of directional asymmetry (DA). Mountain gorillas, with a current population size of about 1000 individuals, have the highest degree of facial FA (explaining 17% of total facial shape variation), followed by Grauer gorillas (9%) and western lowland gorillas (6%), despite the latter experiencing the greatest ecological and dietary variability. DA, while significant in all three taxa, explains relatively less shape variation than FA does. Facial asymmetry correlates neither with tooth wear asymmetry nor increases with age in a mountain gorilla subsample, undermining the hypothesis that facial asymmetry is driven by chewing side preference. An examination of temporal trends shows that stress-induced developmental instability has increased over the last 100 years in these endangered apes. European Union [798117]; Ohio State University President's Postdoctoral Scholars Program, National Geographic Society [8486-08]; National Science Foundation [BCS 0852866, 0964944, 1520221, 1753651]; Leakey Foundation; Smithsonian Collections Care and Preservation Fund; 2010 Max Planck Research Award; French Government; SYNTHESYS Project - European Community Research Infrastructure Action under the FP7 'Capacities' Program Published version This project has received funding from the European Union's Horizon 2020 research and innovation program under the Marie Sklodowska-Curie grant agreement no. 798117, The Ohio State University President's Postdoctoral Scholars Program, National Geographic Society (8486-08), National Science Foundation (BCS 0852866, 0964944, 1520221, 1753651), The Leakey Foundation, the Smithsonian Collections Care and Preservation Fund, and the 2010 Max Planck Research Award to Timothy G. Bromage endowed by the German Federal Ministry of Education and Research to the Max Planck Society and the Alexander von Humboldt Foundation. This study received support from the French Government in the framework of the Investments for the Future Programme IdEx Universite de Bordeaux/GPR Human Past, and from the SYNTHESYS Project http://www.synthesys.info, which is financed by European Community Research Infrastructure Action under the FP7 'Capacities' Program.

Adaptations of the lower back to bipedalism are frequently discussed but infrequently demonstrated in early fossil hominins. Newly discovered lumbar vertebrae contribute to a near-complete lower back of Malapa Hominin 2 (MH2), offering additional insights into posture and locomotion in Australopithecus sediba. We show that MH2 possessed a lower back consistent with lumbar lordosis and other adaptations to bipedalism, including an increase in the width of intervertebral articular facets from the upper to lower lumbar column (‘pyramidal configuration’). These results contrast with some recent work on lordosis in fossil hominins, where MH2 was argued to demonstrate no appreciable lordosis (‘hypolordosis’) similar to Neandertals. Our three-dimensional geometric morphometric (3D GM) analyses show that MH2’s nearly complete middle lumbar vertebra is human-like in overall shape but its vertebral body is somewhat intermediate in shape between modern humans and great apes. Additionally, it bears long, cranially and ventrally oriented costal (transverse) processes, implying powerful trunk musculature. We interpret this combination of features to indicate that A. sediba used its lower back in both bipedal and arboreal positional behaviors, as previously suggested based on multiple lines of evidence from other parts of the skeleton and reconstructed paleobiology of A. sediba., Funding: Leakey Foundation, Scott A Williams; Agencia Estatal de Investigación (Museo Nacional de Ciencias Naturales CSIC PID2020-115854GB-I00), Markus Bastir.

Centro de Investigação em Antropologia e Saúde, Departamento de Ciências da Vida, Universidade de Coimbra Departamento de Biologia, Universidade de Évora Grupo de Estudos em Evolução Humana

This study aims to carry out the first geometric morphometric analysis of the 3D size and shape of the full series of cervical vertebrae delving into variability related to sex and population background. For this reason, we analyzed the cervical vertebrae of both males and females belonging to Europeans, Africans, and Greenland Inuit. We 3D-scanned a total of 219 cervical vertebrae of males and females of three different modern human populations (European, African, and Inuit). A minimum of 72 landmarks and curve semilandmarks were positioned in each of the 3D vertebral models. Landmark configurations were analyzed following the standards of 3D Geometric Morphometrics to test for size and shape differences related to sex or population variation. Results show that male cervical vertebrae are consistently larger than in females while no regular shape differences are observed between males and females in any of the populations. Sex differences in cervical lordosis are thus not supported at the skeletal level of the 3D shape. On the other hand, there is no evidence for population-specific differences in size while shape does vary considerably, possibly also in relation to eco-geographic factors of overall trunk shape. Cervical vertebrae in cold-adapted Inuit were consistently shorter than in Europeans and Africans. The cervical spine may show a different pattern than the thoracic and lumbar spine, which might be related to stronger integration with the cranium, head mobility, and soft-tissue dependence. Our findings suggest that morpho-functional interpretations of the cervical spine based on vertebral skeletal morphology requires caution.

Paleopathology contributes to the knowledge of health and disease in past populations. In the case of tuberculosis, paleopathological research contributes to a better understanding of the antiquity and spread of the disease around the globe, as well as in Portugal. These aspects are the objectives of this work. Genomic research on the Koch bacillus indicates a co-evolution with African Homo sapiens. However, macroscopic, microscopic, imaging and biomolecular analyzes of human skeletal remains suggest that tuberculosis (TB) began to affect humans during the Neolithic period. For several decades the paleopathological diagnosis of tuberculosis was essentially based on the identification of Pott’s disease. More recently, the study of identified skeletal collections has revealed a statistically significant association between both new bone formation on the visceral surface of the ribs and hypertrophic osteoarthropathy and cause of death by pulmonary tuberculosis. Therefore, these skeletal signs have been used to assist in the differential diagnosis of pulmonary TB. Portugal, as in many other countries, notably European countries, was greatly affected by tuberculosis. However, the paleopathological record in the national territory can be considered quite scarce. Amongst the 8000 individuals studied from archaeological excavations, only 81 have bone changes compatible with the disease. Continued research on human and animal osteological remains will certainly bring new developments concerning the antiquity, evolution and spread of tuberculosis across populations and continents., A paleopatologia contribui para o conhecimento da saúde e da doença em populações do passado. No caso particular da tuberculose auxilia na pesquisa que pretende determinar a antiguidade e a dispersão da doença pelo mundo, bem como as evidências existentes em Portugal. Estes aspetos constituem os objetivos deste trabalho. As pesquisas genómicas ao bacilo de Koch indicam uma coevolução com o Homo sapiens a partir de África. No entanto, análises macroscópicas, microscópicas, imagiológicas e biomoleculares dos vestígios osteológicos humanos apontam para que a tuberculose tenha começado a afetar a humanidade no período Neolítico. Durante várias décadas o diagnóstico paleopatológico da tuberculose fez-se, essencialmente, pela identificação do Mal de Pott. Mais recentemente, fruto de estudos em coleções osteológicas identificadas, verificou-se uma associação estatisticamente significativa entre a formação de osso novo na superfície visceral das costelas e a osteoartropatia hipertrófica nos indivíduos que tiveram tuberculose registada como causa de morte e, portanto, estas lesões começaram a ser usadas no diagnóstico diferencial desta doença. Portugal, tal como muitos outros países, maioritariamente europeus, foi bastante afetado pela tuberculose. No entanto, o registo paleopatológico em território nacional pode ser considerado escasso. Dos mais de 8000 indivíduos estudados provenientes de escavações arqueológicas em território português apenas 81 apresentam alterações ósseas compatíveis com a doença. A continuação das pesquisas em vestígios osteológicos humanos e de animais irá, certamente, trazer novos desenvolvimentos acerca da antiguidade, evolução e dispersão da tuberculose pelas populações e continentes.

Thesis presented to the Faculdade de Ciências e Tecnologia, Universidade de Coimbra in order to obtain the degree of Doctor In Biological Anthropology For this study, the human bone sample recovered from Tomb I was analysed from a bioarchaeological perspective with the aim of contributing towards a better understanding of the Late Neolithic/Chalcolithic individuals that used the Perdigões prehistoric enclosures (Reguengos de Monsaraz, Portugal) as a burial site, and their attitudes towards death. To achieve this, four main research objectives were defined: (I) the analysis of the human remains exhumed from Tomb I, in order to characterize demographic, morphologic and pathological aspects of the population(II) based on physical anthropological analysis and the archaeological register, identification of funerary rules and attitudes, relating them to mental constructions towards death through a study of: the conception and form of deposition of human remains; the organization of the internal space of the tomb; evidence of ritualization; signs of management of the funerary space (III) to understand how the specific mortuary practices identified in Tomb I fit into the global funerary practices already known for the rest of the important archaeological site of Perdigões (IV) Tomb I was also understood within the context the history of the use of other tholoi type structures in the territory that is now referred to as South Portugal. Tomb I is a tholos type structure from Perdigões Archaeological Complex, dated from the first half of the 3rd millennium BC and excavated between 1997 and 2001.The sample was in poor state of conservation and highly fragmented, and skeletonized elements were found completely disarticulated. Anthropic and natural taphonomic alterations were limiting factors of the study. A two-fold approach was applied to the study of the skeletal sample from this funerary structure. First, it was studied according to the archaeological phases defined after field work, which sought to understand possible differentiated uses of the tomb through time. The skeletal sample was then studied as a whole, regardless of phases of use. The data obtained through this latter anthropological study were utilized for the paleodemographic reconstruction and for the identification of potential patterns in mortuary practices and for further comparison of this monument with other funerary structures inside and outside Perdigões Archaeological Complex. Both approaches mirror the same reality: the collective, commingled use of this tomb for deposition of human remains from both sexes and individuals of all ages. A total of 61926 bone fragments and 1579 teeth were studied. The paleodemographic approach estimated an MNI of 103 individuals for this structure: 55 adults and 48 non-adults (below 15 years of age at death). Results showed both sexes were represented, while non-metric trait data, highly limited by the conditions of the sample, delivered few results. Calculus was identified on 20,6% of the analysed teeth (289/1399) and linear enamel hypoplasia on 10,4% (143/1369) of the tooth sample, making them the most frequently represented dental pathologies for permanent teeth. Average tooth wear in this sample was low: 1,9 (n=1428) very close to the level of wear obtained for deciduous dentition: 1,8 (n=84). Cariogenic lesions were found on only 0,5% of the 1406 permanent teeth analysed and antemortem tooth loss was identified in 5,3% (n=29/539) of the observable alveoli. Skeletal pathological changes related mostly to joint disease, found mainly on upper and lower limb bones and the spine. The presence of enthesopathies were most commonly found on the lower limb and foot bones. Some evidence other diseases, such as infectious, congenital, metabolic and traumatic conditions, was found, but in low frequencies. However, the rarity of some of these pathologies for prehistoric contexts must be highlighted, as the probable case of Hyperostosis Frontalis Interna identified on an individual from Phase 2C. The analysis of the use of the chamber for funerary depositions throughout the different phases revealed that different physical areas were used for the depositions of human remains and artefacts. In terms of Funerary Anthropology, Tomb I constitutes a burial site where an obvious and intense manipulation of the skeletal remains took place. No anatomical connections were identified and evidence suggests the secondary use of this funerary structure, although the possible presence of primary depositions at some point of its life cannot be overruled. Comparison with other tholos/tholoi type structures made it possible to record differences in demographic, morphological and pathological features between coeval populations. Neste trabalho, os ossos humanos recuperados do Sepulcro I, foram analisados numa perspectiva bio-arqueológica com o objectivo de contribuir para uma melhor compreensão dos indivíduos do Neolítico Final / Calcolítico, que usaram o Complexo Arqueológico dos Perdigões (Reguengos de Monsaraz, Portugal) como local de enterramento e suas atitudes em relação à morte. Para atingir este objectivo, 4 linhas de investigação foram definidas: (I) a análise dos restos humanos exumados do Sepulcro I, a fim de caracterizar os aspectos demográficos, morfológicos e patológicos dos indivíduos exumados (II) com base nos dados de antropológica biológica e do registo arqueológico, identificar regras e atitudes funerárias através de um estudo da concepção e forma de deposição de restos humanos, da organização do espaço interno do túmulo, das evidências de ritualização e dos sinais de gestão do próprio espaço funerário (III) compreender de que forma as práticas mortuárias específicas identificadas no Sepulcro I se encaixam nas práticas funerárias conhecidas para o sítio arqueológico dos Perdigões (IV) e compreender como o Sepulcro I se enquadra no contexto da utilização de outros monumentos funerários tipo-tholos conhecidos para o sul de Portugal. O Sepulcro I é uma estrutura funerário tipo-tholos do Complexo Arqueológico de Perdigões, datada da primeira metade do 3º milénio AC e escavada entre 1997 e 2001. A amostra encontrava-se em mau estado de conservação e muito fragmentada, e os elementos esqueléticos foram encontrados completamente desarticulados. Alterações tafonómicas de origem antrópica e natural foram factores limitantes do estudo. Foi aplicada uma dupla abordagem ao estudo da amostra esquelética da Perdigões. Primeiro, o monumento foi estudado de acordo com as fases arqueológicas definidas após o trabalho de campo, que procuravam compreender possíveis usos diferenciados do túmulo ao longo do tempo. A amostra esquelética foi depois estudada como um todo, independentemente das fases de uso. Os dados obtidos através desta última abordagem foram utilizados para o estudo subsequente. Este incluiu a caracterização antropológica e a identificação de potenciais padrões nas práticas mortuárias da amostra esquelética e para posterior comparação do Sepulcro I com outras estruturas funerárias dentro e fora do Complexo Arqueológico dos Perdigões. Ambas as abordagens refletem a mesma realidade: o uso coletivo deste túmulo para a deposição de restos humanos de indivíduos de ambos os sexos e de todas as idades. Um total de 61926 fragmentos de osso e 1579 dentes foram estudados para o Sepulcro I. A abordagem paleodemográfica estimou um NMI de 103 para esta estrutura: 55 adultos e 48 não adultos (menos de 15 anos de idade). Os resultados mostraram que ambos os sexos se encontravam representados. A análise dos dados paleomorfológicos, muito limitada pelas condições da amostra, apresentou poucos resultados. As patologias orais mais frequentemente representadas para dentes permanentes são o tártaro, identificado em 20,6% dos dentes analisados (289/1399) e as hipoplasias do esmalte dentário, observadas em 10,4% (143/1369) da amostra dentária. O desgaste médio dos dentes era baixo: 1,9 (n=1428) muito próximo do nível de desgaste obtido para a dentição decidual: 1,8 (n = 84). As lesões cariogénicas foram identificadas em apenas em 0,5% dos 1406 dentes permanentes observados e a perda de dentes antemortem foi identificada em 5,3% (n = 29/539) dos alvéolos observáveis. Alterações patológicas do esqueleto estavam principalmente relacionadas com a doença articular, encontradas sobretudo nos ossos dos membros superiores e inferiores e na coluna vertebral. A presença de entesopatias foi mais comumente encontrada nos membros inferiores e nos ossos dos pés. Foram identificadas algumas evidências de outras doenças infecciosas, congénitas, metabólicas e traumáticas, mas em baixas frequências. No entanto, a raridade de algumas destas patologias para contextos pré-históricos deve ser destacada, como o provável caso de Hiperostosis Frontalis Interna identificado num indivíduo da Fase 2C. A análise do uso da câmara para deposições funerárias ao longo das diferentes fases revelou que diferentes áreas físicas foram usadas para deposições de restos humanos e artefactos. Em termos de Antropologia Funerária, o Sepulcro I constitui-se como um local de enterramento onde ocorreu uma intensa manipulação dos restos humanos. Não foram identificadas conexões anatómicas e as evidências sugerem o uso secundário desta estrutura funerária, embora a possível presença de deposições primárias, em alguma fase da sua utilização, não possa ser rejeitada. A comparação com outras estruturas do tipo tholos permitiu registar diferenças demográficas, morfológicas e patológicas entre populações contemporâneas e esclarecer a presença potencial de rituais funerários diferenciados ocorrendo ao mesmo tempo em diferentes regiões.

The D9S1120 locus exhibits a population-specific allele of 9 repeats (9RA) in all Native American and two Siberian populations currently studied, but it is absent in other worldwide populations. Although this feature has been used in anthropological genetic studies, its impact on the evaluation of the structure and genetic relations among Native American populations has been scarcely assessed. Consequently, the aim of this study was to evaluate the anthropological impact of D9S1120 when it was added to STR population datasets in Mexican Native American groups. We analyzed D9S1120 by PCR and capillary electrophoresis (CE) in 1117 unrelated individuals from 13 native groups from the north and west of Mexico. Additional worldwide populations previously studied with D9S1120 and/or 15 autosomal STRs (Identifier kit) were included for interpopulation analyses. We report statistical results of forensic importance for D9S1120. On average, the modal alleles were the Native American-specific allele 9RA (0.3254) and 16 (0.3362). Genetic distances between Native American and worldwide populations were estimated. When D9S1120 was included in the 15 STR population dataset, we observed improvements for admixture estimation in Mestizo populations and for representing congruent genetic relationships in dendrograms. Analysis of molecular variance (AMOVA) based on D9S1120 confirms that most of the genetic variability in the Mexican population is attributable to their Native American backgrounds, and allows the detection of significant intercontinental differentiation attributed to the exclusive presence of 9RA in America. Our findings demonstrate the contribution of D9S1120 to a better understanding of the genetic relationships and structure among Mexican Native groups.

Summary The transition from hunting and gathering to farming involved profound cultural and technological changes. In Western and Central Europe, these changes occurred rapidly and synchronously after the arrival of early farmers of Anatolian origin [1, 2, 3], who largely replaced the local Mesolithic hunter-gatherers [1, 4, 5, 6]. Further east, in the Baltic region, the transition was gradual, with little or no genetic input from incoming farmers [7]. Here we use ancient DNA to investigate the relationship between hunter-gatherers and farmers in the Lower Danube basin, a geographically intermediate area that is characterized by a rapid Neolithic transition but also by the presence of archaeological evidence that points to cultural exchange, and thus possible admixture, between hunter-gatherers and farmers. We recovered four human paleogenomes (1.1× to 4.1× coverage) from Romania spanning a time transect between 8.8 thousand years ago (kya) and 5.4 kya and supplemented them with two Mesolithic genomes (1.7× and 5.3×) from Spain to provide further context on the genetic background of Mesolithic Europe. Our results show major Western hunter-gatherer (WHG) ancestry in a Romanian Eneolithic sample with a minor, but sizeable, contribution from Anatolian farmers, suggesting multiple admixture events between hunter-gatherers and farmers. Dietary stable-isotope analysis of this sample suggests a mixed terrestrial/aquatic diet. Our results provide support for complex interactions among hunter-gatherers and farmers in the Danube basin, demonstrating that in some regions, demic and cultural diffusion were not mutually exclusive, but merely the ends of a continuum for the process of Neolithization., Highlights • Demic and cultural diffusions underlie the Neolithic period in the Danube basin • A large WHG genome component was present in Eneolithic communities in this region • The further east in Europe, the weaker the genetic component of Anatolian farmers • Environmental factors may account for a demic diffusion breakdown in these regions, A key question in archaeological research is whether the transition from hunting and gathering was more reliant on the movement of people or ideas. González-Fortes et al. show, based on genomes of several ancient humans, that in parts of Romania, it was actually a mix of both processes that took place during this so-called Neolithization process.

Determining the timing, identity and direction of migrations in the Mediterranean Basin, the role of "migratory routes" in and among regions of Africa, Europe and Asia, and the effects of sex-specific behaviors of population movements have important implications for our understanding of the present human genetic diversity. A crucial component of the Mediterranean world is its westernmost region. Clear features of transcontinental ancient contacts between North African and Iberian populations surrounding the maritime region of Gibraltar Strait have been identified from archeological data. The attempt to discern origin and dates of migration between close geographically related regions has been a challenge in the field of uniparental-based population genetics. Mitochondrial DNA (mtDNA) studies have been focused on surveying the H1, H3 and V lineages when trying to ascertain north-south migrations, and U6 and L in the opposite direction, assuming that those lineages are good proxies for the ancestry of each side of the Mediterranean. To this end, in the present work we have screened entire mtDNA sequences belonging to U6, M1 and L haplogroups in Andalusians--from Huelva and Granada provinces--and Moroccan Berbers. We present here pioneer data and interpretations on the role of NW Africa and the Iberian Peninsula regarding the time of origin, number of founders and expansion directions of these specific markers. The estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that U6 and some L lineages moved together from Africa to Iberia in the Early Holocene. Still, founder analysis highlights that the high sharing of lineages between North Africa and Iberia results from a complex process continued through time, impairing simplistic interpretations. In particular, our work supports the existence of an ancient, frequently denied, bridge connecting the Maghreb and Andalusia., Financial support was provided by the Spanish Ministry of Competitiveness through Research Project CGL2010-15191/BOS granted to RC and International Mobility Program Acciones Integradas Hispano-Portuguesas (PRI-AIBPT-2011-1004) granted to RC (Spain) and LP (Portugal) (http://www.mineco.gob.es/portal/site/mineco/idi). The E.C. Sixth Framework Programme under Contract n° ERAS-CT-2003-980409 (EUROCORES project of the European Science Foundation) also provided financial support to JMD for North African population research. CLH has a predoctoral fellowship granted by Complutense University. PS is supported by FCT Investigator Programme (IF/01641/2013). IPATIMUP (https://www.ipatimup.pt/) integrates the Instituto the Investigação em Saúde (i3S) Research Unit, which is partially supported by FCT, the Portuguese Foundation for Science and Technology. IPATIMUP is funded by FEDER funds through the Operational Programme for Competitiveness Factors - COMPETE and National Funds through the FCT - under the project PEst-C/SAU/LA0003/2013. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Dissertação de Mestrado em Bioquímica apresentada à Faculdade de Ciências e Tecnologia da Universidade de Coimbra Gene therapy is believed to have the necessary characteristics to become a frontline treatment in a variety of diseases, including cancer. To reach its full potential it is still necessary to develop suitable vectors for the transport and delivery of genetic material into target cells. Currently, the most used vectors are of viral type. However, non-viral strategies have been emerging in the last decades as promising alternatives, and the most prominent examples are liposomes and cationic polymers. These are advantageous especially due to the fact that they are safe and their properties are easy to manipulate. In spite of these advantages, most of the used non-viral systems still demonstrate low efficiencies in transfection. The objective of this work was to investigate the gene delivery potential of novel non-viral vectors, constituted by different combinations of two polymers, to efficiently transport and delivery DNA into target cancer cells. In order to do so, their transfection activity was measured in different cell lines through luminescence, fluorescence microscopy and flow cytometry. Other parameters like their cytotoxicity, degree of DNA condensation, size and surface charge were also evaluated. The obtained results have demonstrated that our formulations are good candidates for gene delivery, due to their potent transfection efficiencies when compared to a “golden standard” polymeric-based gene delivery system, branched polyethylenimine (bPEI). From the developed combined formulations, CE-based polyplexes, prepared at the 100/1 N/P ratio, were selected as the best formulation, owing to their great transfection activity, even in the presence of serum, that is much higher than that obtained with polyplexes prepared with each one of the two polymers, and to their reduced levels of cytotoxicity. Furthermore, the other experimental studies revealed that the polyplexes designed with this combination of polymers present suitable physicochemical properties for in vivo applications, namely a high level of DNA protection and a reduced mean diameter. A terapia génica é considerada uma estratégia terapêutica com as características necessárias para se tornar um tratamento de primeira linha para uma grande variedade de doenças, incluindo o cancro. Apesar disso, para atingir o seu potencial ainda é necessário desenvolver vectores adequados para o transporte e entrega de material genético às células alvo. Actualmente, a maioria dos vectores utilizados são de tipo viral. No entanto, nas últimas décadas, as estratégias do tipo não-viral têm vindo a impor-se como alternativas promissoras, sendo os mais proeminentes exemplos os lipossomas e os polímeros catiónicos. Estes sistemas são vantajosos especialmente na medida em que são seguros e as suas propriedades são fáceis de manipular. Apesar destas vantagens, a maioria destes vectores ainda demonstra uma baixa eficiência de transfecção. O objectivo deste trabalho foi investigar o potencial de novos vectores não-virais, constituídos por diferentes combinações de dois polímeros, para transportar e entregar o material genético de forma eficiente a células cancerígenas. Para tal, a eficiência de transfecção foi avaliada em diferentes linhas celulares através dos ensaios de luminescência, microscopia de fluorescência e citometria de fluxo. Foram também avaliados outros parâmetros como a sua citotoxicidade, capacidade de condensação do DNA, tamanho e carga superficial. Os resultados obtidos mostraram que as nossas formulações são bons candidatos para entrega de material genético, devido à sua potente eficiência de transfecção quando comparada com a obtida com a referência padrão dos sistemas de base polimérica, polietilenimina ramificada (bPEI). Das formulações desenvolvidas envolvendo a combinação de polímeros, os poliplexos com base na combinação CE preparados na razão N/P de 100/1 foram selecionados como a melhor formulação, devido à sua elevada atividade de transfecção, mesmo na presença de soro, que é muito superior à obtida com os poliplexos preparados com cada um dos dois polímeros individualmente, e aos reduzidos níveis de citotoxicidade. Adicionalmente, os outros ensaios experimentais demonstraram que os poliplexos desenvolvidos com esta combinação de polímeros apresentam propriedades físico-químicas favoráveis à sua aplicação in vivo, nomeadamente elevada proteção de material genético e um diâmetro médio reduzido.

The measurement of craniofacial parameters have clinical, forensic and anthropologic significance. Local data on inner canthal and outer canthal distances and the canthal index may reveal the pattern of differential growth in craniofacial features resulting from factors such as sex, diet and genetic distinctions. In the present study, we provide normative data on canthal distances in a Nigerian population which has not been studied previously, utilizing a study design which optimises the effect of age and minimise bias and confounding than previous studies in Nigerian groups. The mean inner canthal distance was 1.85±0.30cm and 2.07±0.29cm (males vs. females, p= 0.000); mean outer canthal distance, 10.39±0.56cm and 10.40±0.98cm (males vs. female, p= 0.899). The results were found to be considerably lower than what has been reported among Nigerian groups. La medición de parámetros craneofaciales tiene importancia clínica, forense y antropológica. Los datos locales sobre la distancia cantal interna y cantal externa y el índice cantal puede revelar el patrón de crecimiento diferencial en las características craneofaciales como resultado de factores como el sexo, la dieta y las diferencias genéticas. En el presente estudio, se proporcionan datos normativos sobre la distancia cantal en una población de Nigeria que no ha sido estudiada previamente, utilizando un diseño de estudio que optimiza el efecto de la edad, como también minimiza el sesgo y la confusión de estudios anteriores en los grupos de Nigeria. La media de distancia cantal interna fue de 1,85±0,30cm y 2,07±0,29cm (hombres v/s mujeres, p = 0,000), mientras que la media de distancia cantal externa fue 10,39±0,56cm y 10,40±0,98cm (hombres v/s mujeres, p = 0,899). Los resultados de este estudio son considerablemente más bajos que lo que se han reportado previamente para los grupos nigerianos.

This study describes and compares two hyoid bones from the middle Pleistocene site of the Sima de los Huesos in the Sierra de Atapuerca (Spain). The Atapuerca SH hyoids are humanlike in both their morphology and dimensions, and they clearly differ from the hyoid bones of chimpanzees and Australopithecus afarensis. Their comparison with the Neandertal specimens Kebara 2 and SDR-034 makes it possible to begin to approach the question of temporal variation and sexual dimorphism in this bone in fossil humans. The results presented here show that the degree of metric and anatomical variation in the fossil sample was similar in magnitude and kind to living humans. Modern hyoid morphology was present by at least 530 kya and appears to represent a shared derived feature of the modern human and Neandertal evolutionary lineages inherited from their last common ancestor.

Although migrations have been thoroughly studied, still little is known about colonization processes. This study analyses the demographic and genetic structures of a colonization process. All the Welsh migrants to the Chubut (Argentina) from year 1865 until year 1925 were identified and their contribution to the gene pool of the colony estimated from genealogies. Three waves of immigration which arrived in 1865, 1874 and 1886 were the main population component, besides a high fertility. In 1868 the population was principally composed of reproductive adults. In 1876, young children and reproductive adults dominated. In 1895 it was a typical young population. In 1920 an ageing trend was already perceptible. The origins of the settlers were so varied that the colony may be considered a sampling at random in the Welsh gene pool. 40% of the founders did not contribute genes. The settling of the Welsh in the Chubut presents two characteristics that may be common to any colonization process: (1) the evolution of the demographic structure from a predominantly young adult male composition to a balance in both sexes and ages. (2) The ‘genetic cost’ resulting from the loss of the genes of some of the founders., Asociación de Antropología Biológica de la República Argentina (AABRA)

Tese de doutoramento em Antropologia, apresentada à Faculdade de Ciências e Tecnologia da Universidade de Coimbra A tuberculose é uma doença infecto-contagiosa cuja origem e evolução pode ser tratada pelo cruzamento da interpretação de fontes documentais e iconográficas, com os resultados decorrentes das recentes técnicas moleculares de pesquisa de biomarcadores e, também, através de métodos macroscópicos e radiológicos. Estas foram as metodologias utilizadas no estudo de 329 indivíduos de ambos os sexos, com idades compreendidas entre os 7 e os 87 anos, pertencentes Colecção de Esqueletos Humanos Identificados (CEI) do Museu Antropológico da Faculdade de Ciências e Tecnologia da Universidade de Coimbra. Da investigação realizada, a pesquisa documental confirmou as variáveis de identificação constantes no livro de registo da CEI e permitiu adicionar novos dados relativos a estes indivíduos. No campo osteológico foram descritas e discutidas as lesões observadas, considerado o diagnóstico diferencial dos diferentes tipos de tuberculose, nomeadamente o significado das lesões nas costelas com base em critérios utilizados na paleopatologia e na medicina. Este estudo pretendeu, ainda, dar um contributo na comparação e validação dos biomarcadores como sejam, o HPLC para a pesquisa de ácidos micólicos e o PCR para a amplificação de ADN antigo de origem bacteriana. Considerando que os indivíduos estudados faleceram no início do século XX, período anterior ao desenvolvimento dos antibióticos, mas em que os conhecimentos médicos de diagnóstico da tuberculose eram já bastantes satisfatórios, os dados decorrentes deste trabalho poderão contribuir para a identificação desta doença em esqueletos não identificados, tanto juvenis como adultos, provenientes de contextos arqueológicos e históricos. The aim of this dissertation was to examine the evidence, and consider the differential diagnosis for tuberculosis (TB) in individuals from early 20th century Coimbra Human Identified Skeletal Collection (CISC), curated by the Anthropological Museum, from the Faculty of Sciences and Technology at the University of Coimbra. The methodologies were from macroscopic observation, radiological examination, biomarker analysis (mycobacterial ancient DNA amplification by PCR and mycolic acids identification by HPLC) and documentary assessment, in order to confirm the authenticity and complement the information of the CISC records. This work, based on data arising before antibiotics became available for treatment, can contribute to the future diagnosis of TB in nondocumented skeletal material, and will facilitate a more reliable diagnosis of TB in both juveniles and adult individuals, in archaeological and historical contexts.