Familial amyloid polyneuropathy (FAP): clinical features, pathophysiology and treatment

In the literature, concepts of “polyneuropathy”, “peripheral neuropathy” and “neuropathy” are often mistakenly used as synonyms. Polyneuropathy is a specific term that refers to a relatively homogenous process that affects multiple peripheral nerves. Most of these tend to present as symmetric polyneuropathies that first manifest in the distal portions of the affected nerves. Many of these distal symmetric polyneuropathies are due to toxic-metabolic causes such as alcohol abuse and diabetes mellitus. Other distal symmetric polyneuropathies may result from an overproduction of substances that result in nerve pathology such as is observed in anti-MAG neuropathy and monoclonal gammopathy of undetermined significance. Other “overproduction” disorders are hereditary such as noted in the Portuguese type of familial amyloid polyneuropathy (FAP). FAP is a manifestation of a group of hereditary amyloidoses; an autosomal dominant, multisystemic disorder wherein the mutant amyloid precursor, transthyretin, is produced in excess primarily by the liver. The liver accounts for approximately 98% of all transthyretin production. FAP is confirmed by detecting a transthyretin variant with a methionine for valine substitution at position 30 [TTR (Met30)]. Familial Amyloidotic Polyneuropathy (FAP) – Portuguese type was first described by a Portuguese neurologist, Corino de Andrade in 1939 and published in 1951. Most persons with this disorder are descended from Portuguese sailors who sired offspring in various locations, primarily in Sweden, Japan and Mallorca. Their descendants emigrated worldwide such that this disorder has been reported in other countries as well. More than 2000 symptomatic cases have been reported in Portugal. FAP progresses rapidly with an average time course from symptom onset to multi-organ involvement and death between ten and twenty years. Treatments directed at removing this aberrant protein such as plasmapheresis and immunoadsorption proved to be unsuccessful. Liver transplantation has been the only effective solution as evidenced by almost 2000 liver transplants performed worldwide. A therapy for FAP with a novel agent, “Tafamidis” has shown some promise in ongoing phase III clinical trials. It is well recognized that regular physical activity of moderate intensity has a positive effect on physical fitness as gauged by body composition, aerobic capacity, muscular strength and endurance and flexibility. Physical fitness has been reported to result in the reduction of symptoms and lesser impairment when performing activities of daily living. Exercise has been advocated as part of a comprehensive approach to the treatment of chronic diseases. Therefore, this chapter concludes with a discussion of the role of exercise training on FAP.

Sistema de fundações para postes de catenária com betão com pré-colocação de agregados (PAC)

Trabalho de Projecto de natureza científica para obtenção do grau de Mestre em Engenharia Civil

Characterization of airborne particles generated from metal active gas welding process

This study is focused on the characterization of particles emitted in the metal active gas welding of carbon steel using mixture of Ar + CO2, and intends to analyze which are the main process parameters that influence the emission itself. It was found that the amount of emitted particles (measured by particle number and alveolar deposited surface area) are clearly dependent on the distance to the welding front and also on the main welding parameters, namely the current intensity and heat input in the welding process. The emission of airborne fine particles seems to increase with the current intensity as fume-formation rate does. When comparing the tested gas mixtures, higher emissions are observed for more oxidant mixtures, that is, mixtures with higher CO2 content, which result in higher arc stability. These mixtures originate higher concentrations of fine particles (as measured by number of particles by cm 3 of air) and higher values of alveolar deposited surface area of particles, thus resulting in a more severe worker's exposure.

Adequações curriculares para os alunos com necessidades educativas especiais no 1º Ciclo do Ensino Básico: um estudo exploratório em três concelhos de Lisboa e de Vale do Tejo

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Ciências da Educação, especialidade Educação Especial, ramo Problemas de Cognição e Multideficiência

How new online communication tools and the availability of content influence the audiences and the creative process

We live in a changing world. At an impressive speed, every day new technological resources appear. We increasingly use the Internet to obtain and share information, and new online communication tools are emerging. Each of them encompasses new potential and creates new audiences. In recent years, we witnessed the emergence of Facebook, Twitter, YouTube and other media platforms. They have provided us with an even greater interactivity between sender and receiver, as well as generated a new sense of community. At the same time we also see the availability of content like it never happened before. We are increasingly sharing texts, videos, photos, etc. This poster intends to explore the potential of using these new online communication tools in the cultural sphere to create new audiences, to develop of a new kind of community, to provide information as well as different ways of building organizations’ memory. The transience of performing arts is accompanied by the need to counter that transience by means of documentation. This desire to ‘save’ events reaches its expression with the information archive of the different production moments as well as the opportunity to record the event and present it through, for instance, digital platforms. In this poster we intend to answer the following questions: which online communication tools are being used to engage audiences in the cultural sphere (specifically between theater companies in Lisbon)? Is there a new relationship with the public? Are online communication tools creating a new kind of community? What changes are these tools introducing in the creative process? In what way the availability of content and its archive contribute to the organization memory? Among several references, we will approach the two-way communication model that James E. Grunig & Todd T. Hunt (1984) already presented and the concept of mass self-communication of Manuel Castells (2010). Castells also tells us that we have moved from traditional media to a system of communication networks. For Scott Kirsner (2010), we have entered an era of digital creativity, where artists have the tools to do what they imagined and the public no longer wants to just consume cultural goods, but instead to have a voice and participate. The creativity process is now depending on the public choice as they wander through the screen. It is the receiver who owns an object which can be exchanged. Virtual reality has encouraged the receiver to abandon its position of passive observer and to become a participant agent, which implies a challenge to organizations: inventing new forms of interfaces. Therefore, we intend to find new and effective online tools that can be used by cultural organizations; the best way to manage them; to show how organizations can create a community with the public and how the availability of online content and its archive can contribute to the organizations’ memory.

Melhoria da eficiência energética do processo de produção de molas para a indústria automóvel

Trabalho Final de Mestrado para obtenção do grau de Mestre em Engenharia Química e Biológica

Implementação em hardware reconfigurável de método de separação de dados hiperespetrais

Relatório do Trabalho Final de Mestrado para obtenção do grau de Mestre em Engenharia de Electrónica e Telecomunicações

Análise por ultra-sons no controlo de condição

Trabalho Final de Mestrado para obtenção do grau de Mestre em Engenharia Mecânica

Contributo para a determinação simultânea, por cromatografia líquida de alta resolução, de carotenoides, vitamina A e vitamina E em amostras compostas por diferentes matrizes alimentares

Trabalho Final de Mestrado para obtenção do grau de Mestre em Engenharia Química e Biológica

Análise do sistema de tratamento de efluentes gasosos de uma central de valorização energética de resíduos sólidos urbanos

Trabalho Final de Mestrado para obtenção do grau de Mestre Em Engenharia Química e Biológica Ramo de processos Químicos

Construção de curvas binodais para sistemas ternários, contendo biodiesel, álcool e água

Trabalho Final de Mestrado para obtenção do grau de Mestre em Engenharia Química

Performance of concrete made with aggregates recycled from precasting industry waste: influence of the crushing process

The aim of this paper is to evaluate the influence of the crushing process used to obtain recycled concrete aggregates on the performance of concrete made with those aggregates. Two crushing methods were considered: primary crushing, using a jaw crusher, and primary plus secondary crushing (PSC), using a jaw crusher followed by a hammer mill. Besides natural aggregates (NA), these two processes were also used to crush three types of concrete made in laboratory (L20, L45 e L65) and three more others from the precast industry (P20, P45 e P65). The coarse natural aggregates were totally replaced by coarse recycled concrete aggregates. The recycled aggregates concrete mixes were compared with reference concrete mixes made using only NA, and the following properties related to the mechanical and durability performance were tested: compressive strength; splitting tensile strength; modulus of elasticity; carbonation resistance; chloride penetration resistance; water absorption by capillarity; water absorption by immersion; and shrinkage. The results show that the PSC process leads to better performances, especially in the durability properties. © 2014 RILEM

A comparison of Sinogram Affirmed Iterative Reconstruction and filtered back projection on image quality and dose reduction in paediatric head CT: a phantom study

Background: Computed tomography (CT) is one of the most used modalities for diagnostics in paediatric populations, which is a concern as it also delivers a high patient dose. Research has focused on developing computer algorithms that provide better image quality at lower dose. The iterative reconstruction algorithm Sinogram-Affirmed Iterative Reconstruction (SAFIRE) was introduced as a new technique that reduces noise to increase image quality. Purpose: The aim of this study is to compare SAFIRE with the current gold standard, Filtered Back Projection (FBP), and assess whether SAFIRE alone permits a reduction in dose while maintaining image quality in paediatric head CT. Methods: Images were collected using a paediatric head phantom using a SIEMENS SOMATOM PERSPECTIVE 128 modulated acquisition. 54 images were reconstructed using FBP and 5 different strengths of SAFIRE. Objective measures of image quality were determined by measuring SNR and CNR. Visual measures of image quality were determined by 17 observers with different radiographic experiences. Images were randomized and displayed using 2AFC; observers scored the images answering 5 questions using a Likert scale. Results: At different dose levels, SAFIRE significantly increased SNR (up to 54%) in the acquired images compared to FBP at 80kVp (5.2-8.4), 110kVp (8.2-12.3), 130kVp (8.8-13.1). Visual image quality was higher with increasing SAFIRE strength. The highest image quality was scored with SAFIRE level 3 and higher. Conclusion: The SAFIRE algorithm is suitable for image noise reduction in paediatric head CT. Our data demonstrates that SAFIRE enhances SNR while reducing noise with a possible reduction of dose of 68%.

A narrative review on the reduction of effective dose to a paediatric patient by using different combinations of kVp, mAs and additional filtration whilst maintaining image quality

This paper reviews the literature for lowering of dose to paediatric patients through use of exposure factors and additional filtration. Dose reference levels set by The International Commission on Radiological Protection (ICRP) will be considered. Guidance was put in place in 1996 requires updating to come into line with modern imaging equipment. There is a wide range of literature that specifies that grids should not be used on paediatric patients. Although much of the literature advocates additional filtration, contrasting views on the relative benefits of using aluminium or copper filtration, and their effects on dose reduction and image quality can vary. Changing kVp and mAs has an effect on the dose to the patient and image quality. Collimation protects adjacent structures whilst reducing scattered radiation.