Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.

Osmolality of Elemental and Semi-Elemental Formulas Supplemented with Nonprotein Energy Supplements

Elemental and semi-elemental formulas are used to feed infants with short bowel syndrome, who may not be able to tolerate feeds of more than 310 mOsm kg(-1). The present study aimed to measure the osmolality of elemental and semi-elemental formulas at different concentrations, with and without the addition of nonprotein energy supplements.

The Effect of Long-Chain Polyunsaturated Fatty Acids Intake During Pregnancy on Adiposity of Healthy Full-Term Offspring at Birth

OBJECTIVE: The adjusted effect of long-chain polyunsaturated fatty acid (LCPUFA) intake during pregnancy on adiposity at birth of healthy full-term appropriate-for-gestational age neonates was evaluated. STUDY DESIGN: In a cross-sectional convenience sample of 100 mother and infant dyads, LCPUFA intake during pregnancy was assessed by food frequency questionnaire with nutrient intake calculated using Food Processor Plus. Linear regression models for neonatal body composition measurements, assessed by air displacement plethysmography and anthropometry, were adjusted for maternal LCPUFA intakes, energy and macronutrient intakes, prepregnancy body mass index and gestational weight gain. RESULT: Positive associations between maternal docosahexaenoic acid intake and ponderal index in male offspring (β=0.165; 95% confidence interval (CI): 0.031-0.299; P=0.017), and between n-6:n-3 LCPUFA ratio intake and fat mass (β=0.021; 95% CI: 0.002-0.041; P=0.034) and percentage of fat mass (β=0.636; 95% CI: 0.125-1.147; P=0.016) in female offspring were found. CONCLUSION: Using a reliable validated method to assess body composition, adjusted positive associations between maternal docosahexaenoic acid intake and birth size in male offspring and between n-6:n-3 LCPUFA ratio intake and adiposity in female offspring were found, suggesting that maternal LCPUFA intake strongly influences fetal body composition.

O percurso teórico de Mário Dionísio em a Paleta e o Mundo

Dissertação apresentada à Faculdade de Ciências Sociais e Humanas de Universidade Nova de Lisboa para cumprimento dos requisitos necessários à obtenção do grau de Mestre em História de Arte Contemporânea.

Sofrimento, resistência e luta. Ressonâncias na Literatura Portuguesa do século XX.

Partindo de um corpus literário constituído por 11 romances do século XX, tomados como exemplos, os capítulos deste volume tratam separadamente dos conceitos de sofrimento, resistência e luta, cruzando os seus objectos de análise com a historiografia contemporânea produzida em contexto académico.

O Retrato de Dom Sebastião: Costa Pinheiro ou a ‘desmitificação’ da retratística histórica oficial

Revista do IHA, N.5 (2008), pp.188-207

A Evolução Pictórica na Obra de Paula Rego. Décadas de 60, 70 e 80

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em História da Arte Contemporânea

Humor and the framing of the public sphere and public opinion in Portugal (1797-1834)

In his Answer to the Question: What is Enlightenment (1784), Kant puts forward his belief that the vocation to think freely, which humankind is endowed with, is bound to make sure that “the public use of reason” will at last act “even on the fundamental principles of government and the state [will] find it agreeable to treat man – who is now more than a machine – in accord with his dignity”. The critical reference to La Mettrie (1747), by opposing the machine to human dignity, will echo, in the dawn of the 20th century, in Bergson’s attempt to explain humor. Besides being exclusive to humans, humor is also a social phenomenon. Freud (1905) assures that pleasure originated by humor is collective, it results from a “social process”: jokes need an audience, a “third party”, in order to work and have fun. Assuming humor as a social and cultural phenomenon, this paper intends to sustain that it played a role in the framing of the public sphere and of public opinion in Portugal during the transition from Absolute Monarchy to Liberalism. The search for the conditions which made possible the critical exercise of sociability is at the root of the creation of the public sphere in the sense developed by Habermas (1962), whose perspective, however, has been questioned by those who point 2 out the alleged idealism of the concept – as opposed, for example, to Bakhtin (1970), whose work stresses diversity and pluralism. This notwithstanding, the concept of public sphere is crucial to the building of public opinion, which is, in turn, indissoluble from the principle of publicity, as demonstrated by Bobbio (1985). This paper discusses the historical evolution of the concept of public opinion from Ancient Greece doxa, through Machiavelli’s “humors” (1532), the origin of the expression in Montaigne (1580) and the contributions of Hobbes (1651), Locke (1690), Swift (1729), Rousseau (1762) or Hume (1777), up to the reflection of Lippman (1922) and Bourdieu’s critique (1984). It maintains that humor, as it appears in Portuguese printed periodicals from 1797 (when Almocreve de Petas was published for the first time) to the end of the civil war (1834) – especially in those edited by José Daniel Rodrigues da Costa but also in O Piolho Viajante, by António Manuel Policarpo da Silva, or in the ones written by José Agostinho de Macedo, as well as in a political “elite minded” periodical such as Correio Braziliense –, contributed to the framing of the public sphere and of public opinion in Portugal.

Mechanical characterization of aortas using 2D ultrasound elastography

Rupture of aortic aneurysms (AA) is a major cause of death in the Western world. Currently, clinical decision upon surgical intervention is based on the diameter of the aneurysm. However, this method is not fully adequate. Noninvasive assessment of the elastic properties of the arterial wall can be a better predictor for AA growth and rupture risk. The purpose of this study is to estimate mechanical properties of the aortic wall using in vitro inflation testing and 2D ultrasound (US) elastography, and investigate the performance of the proposed methodology for physiological conditions. Two different inflation experiments were performed on twelve porcine aortas: 1) a static experiment for a large pressure range (0 – 140 mmHg); 2) a dynamic experiment closely mimicking the in vivo hemodynamics at physiological pressures (70 – 130 mmHg). 2D raw radiofrequency (RF) US datasets were acquired for one longitudinal and two cross-sectional imaging planes, for both experiments. The RF-data were manually segmented and a 2D vessel wall displacement tracking algorithm was applied to obtain the aortic diameter–time behavior. The shear modulus G was estimated assuming a Neo-Hookean material model. In addition, an incremental study based on the static data was performed to: 1) investigate the changes in G for increasing mean arterial pressure (MAP), for a certain pressure difference (30, 40, 50 and 60 mmHg); 2) compare the results with those from the dynamic experiment, for the same pressure range. The resulting shear modulus G was 94 ± 16 kPa for the static experiment, which is in agreement with literature. A linear dependency on MAP was found for G, yet the effect of the pressure difference was negligible. The dynamic data revealed a G of 250 ± 20 kPa. For the same pressure range, the incremental shear modulus (Ginc) was 240 ± 39 kPa, which is in agreement with the former. In general, for all experiments, no significant differences in the values of G were found between different image planes. This study shows that 2D US elastography of aortas during inflation testing is feasible under controlled and physiological circumstances. In future studies, the in vivo, dynamic experiment should be repeated for a range of MAPs and pathological vessels should be examined. Furthermore, the use of more complex material models needs to be considered to describe the non-linear behavior of the vascular tissue.

Ruy Coelho (1889-1986): o compositor da geração d’Orpheu

Ficheiros em falta: anexo 4,5,6 só legíveis presencialmente

A recepção da ideia de Babilónia entre os assírios: a construção de um mito

O tema apresentado nesta Dissertação incide sobre as relações entre a Assíria e a Babilónia durante o período neo-assírio, ou seja, entre os séculos X e VII a.C., tendo como principal objectivo compreender qual a percepção que a Babilónia teve entre os assírios. Para tal, analisaremos os diferentes métodos utilizados pela Assíria para governar o seu vizinho meridional e o modo como os reis assírios se relacionavam com os babilónios e os seus deuses. Pretende-se compreender como os babilónios se destacavam entre todos os outros povos com que os assírios se relacionavam e de que modo esse relacionamento afectou a própria Assíria.

Escritos de Artista em Portugal: história de um esquecimento

O presente estudo realiza uma abordagem inédita aos escritos de artista ao entendê-los como elementos de formação do pensamento teórico sobre as artes plásticas no contexto português do século XX. A perspectiva usada evidencia este tipo de texto como fontes disponíveis mas até aqui negligenciadas pelas práticas historiográficas e analisa, de entre a produção textual elaborada por artistas, aquela que configura (nas suas proposições e nos seus objectivos funcionais) um tipo de conceptualização paralelo e concomitante com enunciados teóricos oriundos de outros agentes do campo artístico (como críticos e historiadores). Diogo de Macedo, António Dacosta, José de Almada Negreiros, Júlio Pomar e Nikias Skapinakis são os artistas cuja produção escrita é observada; Aarão de Lacerda, João Barreira, Reynaldo dos Santos e, sobretudo, José-Augusto França, são os autores cujas construções historiográficas são analisadas. Através destes protagonistas dos debates estéticos e da formação de legibilidade do acontecido, verifica-se a possibilidade de renovação do conhecimento do passado a partir do recurso aos textos elaborados por artistas e, ao mesmo tempo, estudam-se as modalidades de formação discursiva, no campo da história da arte, que têm conduzido à exclusão deste tipo de fontes. Modernismo, academismo, artes decorativas, surrealismo, abstracção, realismo, figuração, o estatuto do artista e a função do Estado na promoção das artes são alguns dos assuntos através dos quais se identificam algumas das questões em discussão, num longo período que se estende da década de 1920 à década de 1970 e que tem o seu ponto nodal nos anos do pós-guerra

Finding new opportunities in the Lisbon market through Whitaker consumer lifestyle segmentation

A sample of 445 consumers resident in distinct Lisbon areas was analyzed through direct observations in order to discover each lifestyle’s current proportion, applying the Whitaker Lifestyle™ Method. The findings of the conducted hypothesis tests on the population proportion unveil that Neo-Traditional and Modern Whitaker lifestyles have the significantly highest proportion, while the overall presence of different lifestyles varies across neighborhoods. The research further demonstrates the validity of Whitaker observation techniques, media consumption differences among lifestyles and the importance of style and aesthetics while segmenting consumers by lifestyles. Finally, market opportunities are provided for firms operating in Lisbon.

Contraexemplos e raciocínio dedutivo

Tese de Doutoramento apresentada ao ISPA - Instituto Universitário