Anemia de Fanconi em Portugal: estudo retrospetivo de 34 anos de investigação no INSA (1980-2014)

A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA. Devido à grande complexidade desta patologia a primeira abordagem de diagnóstico, consiste na análise da instabilidade cromossómica, após cultura celular com estimulação com agentes clastogénicos diepoxibutano (DEB) ou mitomicina C (MMC). Realizou- se um estudo retrospetivo de 34 anos (1980-2014) em 243 amostras com suspeita de AF e de 25 amostras de familiares de doentes de AF, num total de 268 amostras. Nas 243 amostras suspeitas de Anemia de Fanconi, foram identificadas 37 com AF. A idade média ao diagnóstico foi de 7 anos, existindo um ligeiro predomínio da incidência no sexo feminino (59%). Uma amostra foi classificada como AF(-/+). Nos familiares de doentes com AF foram identificados 2 casos positivos, o que perfaz 39 amostras de AF positivas. Em quatro das amostras AF negativas, observaram-se cariotipos anormais. Estes resultados não permitem estimar uma frequência de doentes de AF em Portugal, uma vez que não englobam indivíduos de todas as regiões portuguesas, mas permitem uma estimativa da frequência espectável.

Magma flow, exsolution processes and rock metasomatism in the Great Messejana-Plasencia dyke (Iberian Peninsula)

Magma flow in dykes is still not well understood; some reported magnetic fabrics are contradictory and the potential effects of exsolution and metasomatism processes on the magnetic properties are issues open to debate. Therefore, a long dyke made of segments with different thickness, which record distinct degrees of metasomatism, the Messejana-Plasencia dyke (MPD), was studied. Oriented dolerite samples were collected along several cross-sections and characterized by means of microscopy and magnetic analyses. The results obtained show that the effects of metasomatism on rock mineralogy are important, and that the metasomatic processes can greatly influence anisotropy degree and mean susceptibility only when rocks are strongly affected by metasomatism. Petrography, scanning electron microscopy (SEM) and bulk magnetic analyses show a high-temperature oxidation-exsolution event, experienced by the very early Ti-spinels, during the early stages of magma cooling, which was mostly observed in central domains of the thick dyke segments. Exsolution reduced the grain size of the magnetic carrier (multidomain to single domain transformation), thus producing composite fabrics involving inverse fabrics. These are likely responsible for a significant number of the 'abnormal' fabrics, which make the interpretation of magma flow much more complex. By choosing to use only the 'normal' fabric for magma flow determination, we have reduced by 50 per cent the number of relevant sites. In these sites, the imbrication angle of the magnetic foliation relative to dyke wall strongly suggests flow with end-members indicating vertical-dominated flow (seven sites) and horizontal-dominated flow (three sites).

Shareholder wealth creation in response to announcements of acquisitions of unlisted firms: Evidence from Spain

We investigate shareholder value creation of Spanish listed firms in response to announcements of acquisitions of unlisted companies and compare this experience to the purchase of listed firms over the period 1991–2006. Similar to foreign markets, acquirers of listed targets earn insignificant average abnormal returns, whereas acquirers of unlisted targets gain significant positive average abnormal returns. When we relate these results to company and transaction characteristics our findings diverge from those reported in the literature for other foreign markets, as our evidence suggests that the listing status effect is mainly associated with the fact that unlisted firms tend to be smaller and lesser–known firms, and thus suffer from a lack of competition in the market for corporate control. Consequently, the payment of lower premiums and the possibility of diversifying shareholders’ portfolios lead to unlisted firm acquisitions being viewed as value–orientated transactions.

The impact of family control on firm's return

Family firm is a field of growing interest. The aim of this article is to understand whether CEOs identity impacts family firm’s stock returns. From a sample of Portuguese and Spanish family firms findings show that who manages the firms result in significantly different risk exposure. Moreover, we find that the abnormal return found by Fahlenbrach (2009) to founder-controlled firms disappear when we use valueweighted portfolios and include two new factors: market aggregate illiquidity and debt intensity to the four-factor Carhart model. Finally, our results explain why the majority of family firm is controlled by its founder.

Do economic and financial firm's situation affect the quality if financial reports?

We investigate whether firms’ economic and financial situation influence the Quality of their Financial Reports (FRQ). FRQ is fundamental for investors and it affects the international capital movements [Bradshaw et al. (2004)] and Gelos and Wei (2005)]. Following Schipper and Vicent (2003) we use two issues to access earnings quality: abnormal accruals and earnings persistence. For seventeen European countries, we find evidence that the economic performance affects FRQ. Big firms and those with high current earnings exhibit better financial information. These results are robust since they don’t depend on FRQ proxy and we have the same evidence when we estimate regression with economical and financial factors separately or together. About financial situation, it seems not to affect FRQ. However, in high leveraged firms, the capital structure becomes determinant.

The effect of financial reports’ auality on Ffrm’s rerformance

We analyse whether the quality of firms’ Financial Reports (FRQ) produces any effect on their performance. Bradshaw et al. (2004) and Gelos and Wei (2005) call attention to the fact that the international capital movements is affected by FRQ. Following Schipper and Vicent (2003) we use the abnormal accruals to access earnings quality. For seventeen European countries, we found evidence that FRQ produces a positive impact on firm’s performance. This finding indicates that mangers are not opportunists and tends to make decisions to defend the firm’s best interests. This result is robust since it does not depend on the accounting firms’ performance proxy (ROA/ROE). In addition, it is also consistent when we use data in time series and in cross-sectional and when we estimate regression with lagged or the current year information about abnormal accruals.

Relatório de estágio. Terapia manual ortopédica

Uma das patologias mais frequentes em traumatologia é a instabilidade do complexo articular do ombro. Essa instabilidade é explicada pela função integral anormal dos estabilizadores estáticos e dinâmicos. Por isso, num primeiro momento, o objectivo deste estudo de caso consiste na realização de uma breve revisão actualizada desta temática, visando a sua avaliação e reabilitação, enquanto num segundo momento trata de um caso concreto, à luz destes conceitos.

Mob1: defining cell polarity for proper cell division

Mob1 is a component of both the mitotic exit network and Hippo pathway, being required for cytokinesis, control of cell proliferation and apoptosis. Cell division accuracy is crucial in maintaining cell ploidy and genomic stability and relies on the correct establishment of the cell division axis, which is under the control of the cell's environment and its intrinsic polarity. The ciliate Tetrahymena thermophila possesses a permanent anterior-posterior axis, left-right asymmetry and divides symmetrically. These unique features of Tetrahymena prompted us to investigate the role of Tetrahymena Mob1. Unexpectedly, we found that Mob1 accumulated in basal bodies at the posterior pole of the cell, and is the first molecular polarity marker so far described in Tetrahymena. In addition, Mob1 depletion caused the abnormal establishment of the cell division plane, providing clear evidence that Mob1 is important for its definition. Furthermore, cytokinesis was arrested and ciliogenesis delayed in Tetrahymena cells depleted of Mob1. This is the first evidence for an involvement of Mob1 in cilia biology. In conclusion, we show that Mob1 is an important cell polarity marker that is crucial for correct division plane placement, for cytokinesis completion and for normal cilia growth rates.

Synthesis of optimization of [11C] Pittsburgh compound B by the captive solvent method

Mestrado em Medicina Nuclear.

Market impact of international sporting and cultural events

We study market reaction to the announcements of the selected country hosting the Summer and Winter Olympic Games, the World Football Cup, the European Football Cup and World and Specialized Exhibitions. We generalize previous results analyzing a large number and different types of mega-events, evaluate the effects for winning and losing countries, investigate the determinants of the observed market reaction and control for the ex ante probability of a country being a successful bidder. Average abnormal returns measured at the announcement date and around the event are not significantly different from zero. Further, we find no evidence supporting that industries, that a priori were more likely to extract direct benefits from the event, observe positive significant effects. Yet, when we control for anticipation, the stock price reactions around the announcements are significant.

Binocular vision and reading ability in a Portuguese population of school age children

Preventable visual loss caused by amblyopia (2 to 4%) and its risk factors such as strabismus (3%) and uncorrected refractive errors (5 to 7%) represent an important public health problem. Children with binocular vision anomalies could be at disadvantage in reading and writing. Objectives: (1) Describe binocular vision measures in children of school age; and (2) Describe the impact of abnormal binocular vision on reading ability (reading errors and reading speed).

O papel da angiogênese e da hemólise na úlcera de perna de pessoas com anemia falciforme

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Prova de esforço e factores de risco cardiovascular: um estudo piloto

As doenças cardiovasculares (DCV’s) são a maior causa de mortalidade e morbilidade em Portugal. O seu elevado impacto passa pelo desconhecimento, sub-diagnóstico, elevada prevalência e descontrolo dos seus principais factores de risco (clássicos e novos marcadores bioquímicos). Para o diagnóstico de uma das vertentes da doença cardiovascular, a doença cardíaca isquémica, a prova de esforço (PE) é o exame não invasivo, de baixo custo, com reduzida taxa de complicações e de fácil execução, mais usado na clínica. O objectivo deste estudo é averiguar se existe relação entre a prova de esforço, os factores de risco cardiovascular (FR’s) e alguns dos seus marcadores bioquímicos. Com vista a alcançar objectivo realizou-se um estudo prospectivo, longitudinal e descritivo, na Esferasaúde (Maia), entre Janeiro e Maio de 2011. Foram recolhidos dados, por inquérito, referentes a: biografia, antropometria, FR’s, medicação, PE e análises clínicas. Tendo sido incluídos todos os indivíduos (idade ≥ 18 anos) que tenham realizado prova de esforço e análises na unidade citada e com diferença temporal máxima de 2 meses, pelo método de amostragem dirigida e intencional. A dimensão amostral situou-se nos 30 elementos, sendo que 19 eram do género masculino. A média de idade foi 49,43±15,39 anos. Estimou-se a prevalência de FR’s e de indivíduos com valores dos marcadores bioquímicos anormais. Dois dos indivíduos apresentavam história de DCV’s e três deles PE positiva. Foram efectuadas diversas tentativas de associação entre as variáveis integradas no estudo - DCV e FR’s; PE e FR’s; PE e marcadores bioquímicos; capacidade de esforço e FR’s, género e resultado PE. Nenhuma relação se revelou significativa, com excepção para dois casos: relação entre as DCV’s e o aparecimento de alterações na PE (p = 0,002) e associação entre PE e colesterol HDL (p=0,040). Para α de 5%. Conclui-se que não existe relação aparente entre a prova de esforço, a existência de doença cardiovascular, os seus factores de risco e marcadores bioquímicos.

Data mining framework for fatty liver disease classification in ultrasound: a hybrid feature extraction paradigm

PURPOSE: Fatty liver disease (FLD) is an increasing prevalent disease that can be reversed if detected early. Ultrasound is the safest and ubiquitous method for identifying FLD. Since expert sonographers are required to accurately interpret the liver ultrasound images, lack of the same will result in interobserver variability. For more objective interpretation, high accuracy, and quick second opinions, computer aided diagnostic (CAD) techniques may be exploited. The purpose of this work is to develop one such CAD technique for accurate classification of normal livers and abnormal livers affected by FLD. METHODS: In this paper, the authors present a CAD technique (called Symtosis) that uses a novel combination of significant features based on the texture, wavelet transform, and higher order spectra of the liver ultrasound images in various supervised learning-based classifiers in order to determine parameters that classify normal and FLD-affected abnormal livers. RESULTS: On evaluating the proposed technique on a database of 58 abnormal and 42 normal liver ultrasound images, the authors were able to achieve a high classification accuracy of 93.3% using the decision tree classifier. CONCLUSIONS: This high accuracy added to the completely automated classification procedure makes the authors' proposed technique highly suitable for clinical deployment and usage.

Fatty liver characterization and classification by ultrasound

Steatosis, also known as fatty liver, corresponds to an abnormal retention of lipids within the hepatic cells and reflects an impairment of the normal processes of synthesis and elimination of fat. Several causes may lead to this condition, namely obesity, diabetes, or alcoholism. In this paper an automatic classification algorithm is proposed for the diagnosis of the liver steatosis from ultrasound images. The features are selected in order to catch the same characteristics used by the physicians in the diagnosis of the disease based on visual inspection of the ultrasound images. The algorithm, designed in a Bayesian framework, computes two images: i) a despeckled one, containing the anatomic and echogenic information of the liver, and ii) an image containing only the speckle used to compute the textural features. These images are computed from the estimated RF signal generated by the ultrasound probe where the dynamic range compression performed by the equipment is taken into account. A Bayes classifier, trained with data manually classified by expert clinicians and used as ground truth, reaches an overall accuracy of 95% and a 100% of sensitivity. The main novelties of the method are the estimations of the RF and speckle images which make it possible to accurately compute textural features of the liver parenchyma relevant for the diagnosis.