Vigilância de síndromes com anomalias congénitas que afetam múltiplos sistemas: dados do Registo Nacional de Anomalias Congénitas para os anos 2000 a 2013

O Registo Nacional de Anomalias Congénitas (RENAC) recebe notificações da ocorrência de anomalias congénitas diagnosticadas até ao final do 1º mês de vida, algumas das quais são raras. Foi realizado um estudo observacional, transversal, com a finalidade de descrever a epidemiologia dos registos de anomalias congénitas que constituem uma síndrome genética rara, utilizando os dados do RENAC entre 2000-2013. Observou-se uma prevalência de 1,17 casos/10 000 nascimentos de indivíduos com síndrome genética rara com anomalias que afetam múltiplos sistemas. Estas patologias representam um pequeno grupo do universo das doenças raras. No total das síndromes estudadas (n=171), a maior frequência observou-se no grupo de síndromes que afetam predominantemente o aspeto da face (50,9%) e, neste grupo, destacam-se a Sequência de Pierre Robin (26,3%) e a Síndrome de Goldenhar (11,7%). No grupo de outras síndromes genéticas, a Síndrome de DiGeorge foi diagnosticada em 12,3% dos casos. Dada a inexistência de um registo nacional de doenças raras, os dados do RENAC podem contribuir para avaliar a prevalência de algumas destas doenças. Contudo para uma melhor vigilância de algumas doenças raras, o prazo de registo será alargado até ao ano de idade de modo a permitir que situações mais complexas possam ser identificadas e registadas.

A method to analyse the alignment of core values in collaborative networked organisations

Since collaborative networked organisations are usually formed by independent and heterogeneous entities, it is natural that each member holds his own set of values, and that conflicts among partners might emerge because of some misalignment of values. In contrast, it is often stated in literature that the alignment between the value systems of members involved in collaborative processes is a prerequisite for successful co-working. As a result, the issue of core value alignment in collaborative networks started to attract attention. However, methods to analyse such alignment are lacking mainly because the concept of 'alignment' in this context is still ill defined and shows a multifaceted nature. As a contribution to the area, this article introduces an approach based on causal models and graph theory for the analysis of core value alignment in collaborative networks. The potential application of the approach is then discussed in the virtual organisations' breeding environment context.

Elements of a methodology to assess the alignment of core-values in collaborative networks

Collaborative networks are typically formed by heterogeneous and autonomous entities, and thus it is natural that each member has its own set of core-values. Since these values somehow drive the behaviour of the involved entities, the ability to quickly identify partners with compatible or common core-values represents an important element for the success of collaborative networks. However, tools to assess or measure the level of alignment of core-values are lacking. Since the concept of 'alignment' in this context is still ill-defined and shows a multifaceted nature, three perspectives are discussed. The first one uses a causal maps approach in order to capture, structure, and represent the influence relationships among core-values. This representation provides the basis to measure the alignment in terms of the structural similarity and influence among value systems. The second perspective considers the compatibility and incompatibility among core-values in order to define the alignment level. Under this perspective we propose a fuzzy inference system to estimate the alignment level, since this approach allows dealing with variables that are vaguely defined, and whose inter-relationships are difficult to define. Another advantage provided by this method is the possibility to incorporate expert human judgment in the definition of the alignment level. The last perspective uses a belief Bayesian network method, and was selected in order to assess the alignment level based on members' past behaviour. An example of application is presented where the details of each method are discussed.

The importance of the program for the promotion of physical activity in perceived fatigue in people with multiple sclerosis

The aims of the study is to examine for intervention program of physical activity in the perception of fatigue, in patients with multiple sclerosis.

Implication of an intervention program for the promotion of physical activity in the quality of life of people with multiple sclerosis

The aims of this study is to examine the interest for quality of life of an implementation of program physical activity, with patients of multiple sclerosis.

Developing multiple - choice questions in mathematics

In this paper we wish to illustrate different perspectives used to create Multiple-Choice questions and we will show how we can improve these in the construction of math tests. As it is known, web technologies have a great influence on student’s behaviour. Based on an on-line project beginning at 2007 which has been contributing to help students on their individual work, we would like to share our experience and thoughts with colleagues who have a common concern when they have the task of constructing Multiple-Choice tests. We feel that Multiple-Choice tests play an important and a very useful supporting role in selfevaluation or self-examination of our students. Nonetheless, good Multiple–Choice Test Items are generally more complex and time-consuming to create than other types of tests. It requires a certain amount of skill. However, this skill maybe increases through study, practice and experience. This paper discusses a number of issues related to the use of Multiple-Choice questions, lists the advantages and disadvantages of this question format contrasting it with open questions. Some examples are given in this context.

Moodle and multiple-choice tests

Multiple-Choice items are used in many different kinds of tests in several areas of knowledge. They can be considered an interesting tool to the self-assessing or as an alternative or complementary instrument to the traditional methods for assessing knowledge. The objectivity and accuracy of the multiple-choice tests is an important reason to think about. They are especially useful when the number of students to evaluate is too large. Moodle (Modular Object-Oriented Dynamic Learning Environment) is an Open Source course management system centered around learners' needs and designed to support collaborative approaches to teaching and learning. Moodle offers to the users a rich interface, context-specific help buttons, and a wide variety of tools such as discussion forums, wikis, chat, surveys, quizzes, glossaries, journals, grade books and more, that allow them to learn and collaborate in a truly interactive space. Come together the interactivity of the Moodle platform and the objectivity of this kind of tests one can easily build manifold random tests. The proposal of this paper is to relate our journey in the construction of these tests and share our experience in the use of the Moodle platform to create, take advantage and improve the multiple-choices tests in the Mathematic area.

Multiple-choice tests: a tool in assessing knowledge

The purpose of this paper is to analyse if Multiple-Choice Tests may be considered an interesting alternative for assessing knowledge, particularly in the Mathematics area, as opposed to the traditional methods, such as open questions exams. In this sense we illustrate some opinions of the researchers in this area. Often the perception of the people about the construction of this kind of exams is that they are easy to create. But it is not true! Construct well written tests it’s a hard work and needs writing ability from the teachers. Our proposal is analyse the construction difficulties of multiple - choice tests as well some advantages and limitations of this type of tests. We also show the frequent critics and worries, since the beginning of this objective format usage. Finally in this context some examples of Multiple-Choice Items in the Mathematics area are given, and we illustrate as how we can take advantage and improve this kind of tests.

Augmented LDPC Graph for Distributed Video Coding with Multiple Side Information

The advances made in channel-capacity codes, such as turbo codes and low-density parity-check (LDPC) codes, have played a major role in the emerging distributed source coding paradigm. LDPC codes can be easily adapted to new source coding strategies due to their natural representation as bipartite graphs and the use of quasi-optimal decoding algorithms, such as belief propagation. This paper tackles a relevant scenario in distributedvideo coding: lossy source coding when multiple side information (SI) hypotheses are available at the decoder, each one correlated with the source according to different correlation noise channels. Thus, it is proposed to exploit multiple SI hypotheses through an efficient joint decoding technique withmultiple LDPC syndrome decoders that exchange information to obtain coding efficiency improvements. At the decoder side, the multiple SI hypotheses are created with motion compensated frame interpolation and fused together in a novel iterative LDPC based Slepian-Wolf decoding algorithm. With the creation of multiple SI hypotheses and the proposed decoding algorithm, bitrate savings up to 8.0% are obtained for similar decoded quality.

Complex fluids at complex surfaces simply complicated

We study wetting and filling of patterned surfaces by a nematic liquid crystal. We focus on three important classes of periodic surfaces: triangular, sinusoidal and rectangular. The results highlight the similarities and differences of nematic wetting of these surfaces and wetting by simple fluids. The interplay of geometry, surface and elastic energies can lead to the suppression of either filling or wetting. The periodic rectangular surface displays re-entrant transitions, with a sequence dry-filled-wet-filled, in the relevant region of parameter space.

Soleus activity in post-stroke subjects: movement sequence from standing to sitting

O documento em anexo encontra-se na versão post-print (versão corrigida pelo editor).

Can power laws help us understand gene and proteome information?

Proteins are biochemical entities consisting of one or more blocks typically folded in a 3D pattern. Each block (a polypeptide) is a single linear sequence of amino acids that are biochemically bonded together. The amino acid sequence in a protein is defined by the sequence of a gene or several genes encoded in the DNA-based genetic code. This genetic code typically uses twenty amino acids, but in certain organisms the genetic code can also include two other amino acids. After linking the amino acids during protein synthesis, each amino acid becomes a residue in a protein, which is then chemically modified, ultimately changing and defining the protein function. In this study, the authors analyze the amino acid sequence using alignment-free methods, aiming to identify structural patterns in sets of proteins and in the proteome, without any other previous assumptions. The paper starts by analyzing amino acid sequence data by means of histograms using fixed length amino acid words (tuples). After creating the initial relative frequency histograms, they are transformed and processed in order to generate quantitative results for information extraction and graphical visualization. Selected samples from two reference datasets are used, and results reveal that the proposed method is able to generate relevant outputs in accordance with current scientific knowledge in domains like protein sequence/proteome analysis.

Environmental and track perturbations on multiple pantograph interaction with catenaries in high-speed trains

The top velocity of high-speed trains is generally limited by the ability to supply the proper amount of energy through the pantograph-catenary interface. The deterioration of this interaction can lead to the loss of contact, which interrupts the energy supply and originates arcing between the pantograph and the catenary, or to excessive contact forces that promote wear between the contacting elements. Another important issue is assessing on how the front pantograph influences the dynamic performance of the rear one in trainsets with two pantographs. In this work, the track and environmental conditions influence on the pantograph-catenary is addressed, with particular emphasis in the multiple pantograph operations. These studies are performed for high speed trains running at 300 km/h with relation to the separation between pantographs. Such studies contribute to identify the service conditions and the external factors influencing the contact quality on the overhead system. (C) 2013 Elsevier Ltd. All rights reserved.

Decisions with multiple simultaneous goals and uncertain causal effects

A key aspect of decision-making in a disaster response scenario is the capability to evaluate multiple and simultaneously perceived goals. Current competing approaches to build decision-making agents are either mental-state based as BDI, or founded on decision-theoretic models as MDP. The BDI chooses heuristically among several goals and the MDP searches for a policy to achieve a specific goal. In this paper we develop a preferences model to decide among multiple simultaneous goals. We propose a pattern, which follows a decision-theoretic approach, to evaluate the expected causal effects of the observable and non-observable aspects that inform each decision. We focus on yes-or-no (i.e., pursue or ignore a goal) decisions and illustrate the proposal using the RoboCupRescue simulation environment.

Implications of the Intervention Program for Physical Activity (IPPA) in the perception of illness and wellbeing in people with Multiple Sclerosis (MS)

The aim of this study is to examine the implications of the IPPA in the perception of illness and wellbeing in MS patients. Methods - This is a quasi experimental study non-randomized study with 24 MS patients diagnosed at least 1 year before, and with an EDSS score of under 7. We used the IPPA in 3 groups of eight people in 3 Portuguese hospitals (Lisbon, Coimbra, and Porto). The sessions were held once a week for 90 minutes, over a period of 7 weeks. The instruments used were: We asked the subjects the question “Please classify the severity of your disease?” and used the Personal Wellbeing Scale (PWS) at the beginning (time A) and end (time B) of the IPPA. We used the SPSS version 20. A non-parametric statistical hypothesis test (Wilcoxon test) was used for the variable analysis. The intervention followed the recommendations of the Helsinki Declaration. Results – The results suggest that there are differences between time A and B, the perception of illness decreased (p<0.08), while wellbeing increased (p<0.01). Conclusions: The IPPA can play an important role in modifying the perception of disease severity and personal wellbeing.