Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial carcinoma

We have identified an allelic deletion common region in the q26 region of chromosome 10 in endometrial carcinomas, which has been reported previously as a potential target of genetic alterations related to this neoplasia. An allelotyping analysis of 19 pairs of tumoral and non-tumoral samples was accomplished using seven microsatellite polymorphic markers mapping in the 10q26 chromosomal region. Loss of heterozygosity for one or more loci was detected in 29% of the endometrial carcinoma samples. The observed pattern of loss enabled the identification of a 3.5 Mb common deleted region located between the D10S587 and D10S186 markers. An additional result from an endometrial sample with evidence of a RER phenotype may suggest a more centromeric region of loss within the above-mentioned interval. This 401.84 Kb interval flanked by the D10S587 and D10S216 markers may be a plausible location for a putative suppressor gene involved in early stage endometrial carcinogenesis.

Water quality issues in rivers, lakes and reservoirs in Asian countries: an approach to the problems and the methodologies

Water covers over 70% of the Earth's surface, and is vital for all known forms of life. But only 3% of the Earth's water is fresh water, and less than 0.3% of all freshwater is in rivers, lakes, reservoirs and the atmosphere. However, rivers and lakes are an important part of fresh surface water, amounting to about 89%. In this Master Thesis dissertation, the focus is on three types of water bodies – rivers, lakes and reservoirs, and their water quality issues in Asian countries. The surface water quality in a region is largely determined both by the natural processes such as climate or geographic conditions, and the anthropogenic influences such as industrial and agricultural activities or land use conversion. The quality of the water can be affected by pollutants discharge from a specific point through a sewer pipe and also by extensive drainage from agriculture/urban areas and within basin. Hence, water pollutant sources can be divided into two categories: Point source pollution and Non-point source (NPS) pollution. Seasonal variations in precipitation and surface run-off have a strong effect on river discharge and the concentration of pollutants in water bodies. For example, in the rainy season, heavy and persistent rain wash off the ground, the runoff flow increases and may contain various kinds of pollutants and, eventually, enters the water bodies. In some cases, especially in confined water bodies, the quality may be positive related with rainfall in the wet season, because this confined type of fresh water systems allows high dilution of pollutants, decreasing their possible impacts. During the dry season, the quality of water is largely related to industrialization and urbanization pollution. The aim of this study is to identify the most common water quality problems in Asian countries and to enumerate and analyze the methodologies used for assessment of water quality conditions of both rivers and confined water bodies (lakes and reservoirs). Based on the evaluation of a sample of 57 papers, dated between 2000 and 2012, it was found that over the past decade, the water quality of rivers, lakes, and reservoirs in developing countries is being degraded. Water pollution and destruction of aquatic ecosystems have caused massive damage to the functions and integrity of water resources. The most widespread NPS in Asian countries and those which have the greatest spatial impacts are urban runoff and agriculture. Locally, mine waste runoff and rice paddy are serious NPS problems. The most relevant point pollution sources are the effluents from factories, sewage treatment plant, and public or household facilities. It was found that the most used methodology was unquestionably the monitoring activity, used in 49 of analyzed studies, accounting for 86%. Sometimes, data from historical databases were used as well. It can be seen that taking samples from the water body and then carry on laboratory work (chemical analyses) is important because it can give an understanding of the water quality. 6 papers (11%) used a method that combined monitoring data and modeling. 6 papers (11%) just applied a model to estimate the quality of water. Modeling is a useful resource when there is limited budget since some models are of free download and use. In particular, several of used models come from the U.S.A, but they have their own purposes and features, meaning that a careful application of the models to other countries and a critical discussion of the results are crucial. 5 papers (9%) focus on a method combining monitoring data and statistical analysis. When there is a huge data matrix, the researchers need an efficient way of interpretation of the information which is provided by statistics. 3 papers (5%) used a method combining monitoring data, statistical analysis and modeling. These different methods are all valuable to evaluate the water quality. It was also found that the evaluation of water quality was made as well by using other types of sampling different than water itself, and they also provide useful information to understand the condition of the water body. These additional monitoring activities are: Air sampling, sediment sampling, phytoplankton sampling and aquatic animal tissues sampling. Despite considerable progress in developing and applying control regulations to point and NPS pollution, the pollution status of rivers, lakes, and reservoirs in Asian countries is not improving. In fact, this reflects the slow pace of investment in new infrastructure for pollution control and growing population pressures. Water laws or regulations and public involvement in enforcement can play a constructive and indispensable role in environmental protection. In the near future, in order to protect water from further contamination, rapid action is highly needed to control the various kinds of effluents in one region. Environmental remediation and treatment of industrial effluent and municipal wastewaters is essential. It is also important to prevent the direct input of agricultural and mine site runoff. Finally, stricter environmental regulation for water quality is required to support protection and management strategies. It would have been possible to get further information based in the 57 sample of papers. For instance, it would have been interesting to compare the level of concentrations of some pollutants in the diferente Asian countries. However the limit of three months duration for this study prevented further work to take place. In spite of this, the study objectives were achieved: the work provided an overview of the most relevant water quality problems in rivers, lakes and reservoirs in Asian countries, and also listed and analyzed the most common methodologies.

Analysis of a 17.9 kb region from Saccharomyces cerevisiae chromosome VII reveals the presence of eight open reading frames, including BRF1 (TFIIIB70) and GCN5 genes

We report the nucleotide sequence of a 17,893 bp DNA segment from the right arm of Saccharomyces cerevisiae chromosome VII. This fragment begins at 482 kb from the centromere. The sequence includes the BRF1 gene, encoding TFIIIB70, the 5' portion of the GCN5 gene, an open reading frame (ORF) previously identified as ORF MGA1, whose translation product shows similarity to heat-shock transcription factors and five new ORFs. Among these, YGR250 encodes a polypeptide that harbours a domain present in several polyA binding proteins. YGR245 is similar to a putative Schizosaccharomyces pombe gene, YGR248 shows significant similarity with three ORFs of S. cerevisiae situated on different chromosomes, while the remaining two ORFs, YGR247 and YGR251, do not show significant similarity to sequences present in databases.

Clusters of 5S rRNAs in the intergenic region of ubiquitin genes in Tetrahymena pyriformis

Here, we report the molecular analysis of two independent 5S rRNA clusters found in the intergenic region of two ubiquitin genomic clones isolated from Tetrahymena pyriformis. Each cluster contains two 120-bp-long coding regions organized in tandem with 142/145-bp-long spacers.

O financiamento da economia dos Açores

Dissertação de Mestrado em Ciências Económicas e Empresariais.

A molecular perspective of the Laurencia complex (Ceramiales, Rhodophyta) in Macaronesia region

IV Congress of Marine Sciences. Las Palmas de Gran Canaria, June 11th to 13th 2014.

Identification of neuronal alterations induced by Shank3 mutations using iPS cells from Phelan-McDermid Patients' Fibroblasts

A família de proteínas Shank é o principal conjunto de proteinas de suporte e está localizada na densidade pós-sináptica das sinapses excitatórias. Existem 3 genes na família Shank, Shank1, Shank2 e Shank3 e são caracterizados por múltiplos domínios repetidos de anquirina próximo ao N-terminal seguido pelos domínios Src homologo 3 e PDZ, uma região longa rica em prolina e um domínio de motivo α estéril próximo ao C-terminal. Shank proteínas conectam duas subunidades de receptors glutamatérgicos, recetores NMDA e recetores metabotrópicos de glutamato do tipo-I (mGluRs). O domínio PDZ da Shank conecta-se ao C-terminal do GKAP e este, liga-se, ao complexo recetor PSD-95-NMDA. Por outro lado, a proteína Homer interage com o domínio rico em prolina para confirmar a associação entre a proteína Shank com o mGluR tipo-I. A proteína específica em estudo, Shank3, é haploinsuficiente em pacientes com sindrome Phelan-McDermid devido à deleções no braço comprido do cromossoma 22 levando à danos intelectuais, ausência ou atraso no discurso, comportamentos semelhantes ao autismo, hipotonia e características dismórficas. Neste trabalho, investigamos o papel da Shank3 na função sináptica para compreender a relação entre alterações nesta proteína e as características neurológicas presente em Pacientes com síndrome Phelan-McDermid. Foram utilizados dois modelos diferentes, ratinhos knockout Shank3 e hiPSC de pacientes com PMS. Ratinhos geneticamente modificados são ferramentas uteis no estudo de genes e na compreensão dos mecanismos que experiências in vitro não são capazes de reproduzir, mas de maneira a compreender melhor as patologias humanas, decidimos trabalhar também com células humanas. Os fibroblastos dos pacientes com síndrome Phelan-McDermid fora reprogramados em hiPS cells, diferenciados em neurónios e comparados com os neurónios obtidos a partir de doadores saudavéis e da mesma idade. A reprogramação em iPSC foi realizada por infecção de lentivirus com quatro genes de reprogramação OCT4, c-MYC, SOX2 e KFL4 para posteriormente serem diferenciados em neurónios, com cada passo sendo positivamente confirmado através de marcadores neuronais. Através dos neurónios diferenciados, analisamos a expressão de proteínas sinápticas. Pacientes com haploinsuficiencia na proteína Shank3 apresentam níveis elevados de proteína mGluR5 e decrescidos de proteína Homer sugerindo que a haploinsuficiencia leva a desregulação do complexo mGluR5-Homer-Shank3 conduzindo também, a defeitos na maturação sináptica. Assim, a expressão da proteína mGluR5 está alterada nos pacientes com PMS podendo estar relacionada com defeitos encontrados na diferenciação neuronal e maturação sináptica observados nos neurónios de pacientes. Conclusivamente, iPS cells representam um modelo fundamental no estudo da proteína Shank3 e a sua influência no sindrome de Phelan-McDermid.

Effects of natural mortality on the yield per recruit models

Dissertação de Mestrado, Estudos Integrados dos Oceanos, 22 de Janeiro de 2016, Universidade dos Açores.

Modelos de avaliação a edifícios habitacionais na cidade de Ponta Delgada : abordagem hedónica

Dissertação de Mestrado, Gestão de Empresas (MBA), 19 de Fevereiro de 2016, Universidade dos Açores.

Stability of the tree-level vacuum in two Higgs doublet models against charge or CP spontaneous violation

We show that in two Higgs doublet models at tree-level the potential minimum preserving electric charge and CP symmetries, when it exists, is the global one. Furthermore, we derived a very simple condition, involving only the coefficients of the quartic terms of the potential, that guarantees spontaneous CP breaking. (C) 2004 Elsevier B.V. All rights reserved.

Modelling and segmentation of the vocal tract during speech production by using deformable models in magnetic resonance images

The first and second authors would like to thank the support of the PhD grants with references SFRH/BD/28817/2006 and SFRH/PROTEC/49517/2009, respectively, from Fundação para a Ciência e Tecnol ogia (FCT). This work was partially done in the scope of the project “Methodologies to Analyze Organs from Complex Medical Images – Applications to Fema le Pelvic Cavity”, wi th reference PTDC/EEA- CRO/103320/2008, financially supported by FCT.

Anomaly-free U(1) gauge symmetries in neutrino seesaw flavor models

Agência Financiadora: Fundação para a Ciência e a Tecnologia (FCT) - PEst-OE/FIS/UI0777/2013; CERN/FP/123580/2011; PTDC/FIS-NUC/0548/2012

Automatic synthesis of VHDL Hardware Components from IOPT Petri Net models

Conferência: 39th Annual Conference of the IEEE Industrial-Electronics-Society (IECON), Vienna, Austria, Nov 10-14, 2013

Effects of sulphurization time on Cu2ZnSnS4 absorbers and thin films solar cells obtained from metallic precursors

We report the results of a study of the sulphurization time effects on Cu2ZnSnS4 absorbers and thin film solar cells prepared from dc-sputtered tackedmetallic precursors. Three different time intervals, 10 min, 30min and 60 min, at maximum sulphurization temperature were considered. The effects of this parameter' change were studied both on the absorber layer properties and on the final solar cell performance. The composition, structure, morphology and thicknesses of the CZTS layers were analyzed. The electrical characterization of the absorber layer was carried out by measuring the transversal electrical resistance of the samples as a function of temperature. This study shows an increase of the conductivity activation energy from 10 meV to 54meV for increasing sulphurization time from 10min to 60min. The solar cells were built with the following structure: SLG/Mo/CZTS/CdS/i-ZnO/ZnO:Al/Ni:Al grid. Several ac response equivalent circuit models were tested to fit impedance measurements. The best results were used to extract the device series and shunt resistances and capacitances. Absorber layer's electronic properties were also determined using the Mott–Schottky method. The results show a decrease of the average acceptor doping density and built-in voltage, from 2.0 1017 cm−3 to 6.5 1015 cm−3 and from 0.71 V to 0.51 V, respectively, with increasing sulphurization time. These results also show an increase of the depletion region width from approximately 90 nm–250 nm.

New insights on integer-programming models for the kidney exchange problem

In recent years several countries have set up policies that allow exchange of kidneys between two or more incompatible patient–donor pairs. These policies lead to what is commonly known as kidney exchange programs. The underlying optimization problems can be formulated as integer programming models. Previously proposed models for kidney exchange programs have exponential numbers of constraints or variables, which makes them fairly difficult to solve when the problem size is large. In this work we propose two compact formulations for the problem, explain how these formulations can be adapted to address some problem variants, and provide results on the dominance of some models over others. Finally we present a systematic comparison between our models and two previously proposed ones via thorough computational analysis. Results show that compact formulations have advantages over non-compact ones when the problem size is large.