Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrome. In the Portuguese archipelago of the Azores, the worldwide population cluster for this disorder (prevalence of 39 in 100,000 inhabitants), a cohort of MJD mutation carriers belonging to extensively studied pedigrees has been followed since the late 1990s. Studies of the homogeneous Azorean MJD cohort have been contributing crucial information to the natural history of this disease as well as allowing the identification of novel molecular biomarkers. Moreover, as interventional studies for this globally rare and yet untreatable disease are emerging, this cohort should be even more important for the recruitment of trial participants. In this paper, we profile the Azorean cohort of MJD carriers, constituted at baseline by 20 pre-ataxic carriers and 52 patients, which currently integrates the European spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI), a large European longitudinal MJD cohort. Moreover, we summarize the main studies based on this cohort and highlight the contributions made to advances in MJD research. Knowledge of the profile of the Azorean MJD cohort is not only important in the context of emergent interventional trials but is also pertinent for the implementation of adequate interventional measures, constituting relevant information for Lay Associations and providing data to guide healthcare decision makers.

Nowadays, people are more predisposed to being self-taught due to the availability of online information. With digitalization, information appears not only in its conventional state, as blogs, articles, newspapers, or e-books, but also in more interactive and enticing ways. Video games have become a transmission vehicle for information and knowledge, but they require specific treatment in respect of their presentation and the way in which users interact with them. This treatment includes usability guidelines and heuristics that provide video game properties that are favorable to a better user experience, conducive to captivating the user and to assimilating the content. In this research, usability guidelines and heuristics, complemented with recommendations from educational video game studies, were gathered and analyzed for application to a video game for English language learning called EnLang4All, which was also developed in the scope of this project and evaluated in terms of its reception by users.

Pott's disease is a vertebral infection caused by Mycobacterium tuberculosis. Indolent nature and subacute course are associated with late diagnosis. A clinical case is presented whose diagnosis was delayed by atypical presentation with progressive worsening of symptoms. Magnetic resonance imaging (MRI) of the dorsolumbar spine revealed T7–T8 angulation suggestive of secondary injury, with intracanalar extension and spinal cord compression. Gastric aspirate cultures, direct microscopy, and polymerase chain reaction (PCR) were A 79-yearold female came to the emergency department with right back pain, pleuritic, with 12 h of evolution. Anorexia and weight loss,1 month evolution. Computed tomography (CT) of the dorsal spine revealed T7–T8 lytic lesions, suggestive of secondary nature. Objectively:weight loss and pain during thoracic palpation. Annalistically: normocytic/normochromic anemia, hypercalcemia, hepatic cholestasis, C-reactive protein (CRP) 7.12 mg/dL. Chest X-ray and electrocardiogram without alterations. She was admitted in Internal Medicine service. Analytically: hypophosphatemia, parathyroid hormone elevated, CRP 6 mg/dL, Beta-2 microglobulin elevated, dyslipidemia, iron and folicacid deficiency.negative for M. tuberculosis. T8 aspiration CT guided: cultures/direct microscopy negative, PCR positive for M. tuberculosis. Introductionof antitubercular drugs. Worsening of symptomatology, with paraparesia. MRI of the dorsal spine revealed spondylodiscitis and spinal cordcompression in T7–T8. Diagnosis revealed vertebral tuberculosis with spinal cord compression. She was transferred to neurosurgery servicefor surgical treatment. There was clinical and analytical improvement. Draws attention to difficulty in diagnose a treatable disease in a patientwith a rare presentation.

In the European Union each member state is responsible for organizing the specialization of medical doctors in order to ensure their appropriate training and their ability to provide the highest quality of care. However, since 2015, not all medical graduates in Portugal have been able to access a specialized training program. The main aim of this study was to calculate the cumulative number of candidates for medical specialization who were not enrolled in a program (CMSNE) each year since 2012 and forecast its evolution up to 2021. Data pertaining to candidates for medical specialization was collected through public listings published by the Central Administration of the Health System and analysed using a polynomial regression model. A total of 14214 applications for medical specialization, from 2012 to 2019, were analysed. The number of CMSNE up to 2018 was 2044. This number tripled between 2015 (656) and 2018. We estimated this number will grow to 4148 by the year 2021. The impact of this trend in healthcare quality and workforce dynamics is yet to be determined.

This chapter focuses on the development of mobile applications in a research strategy that combines computer sciences and architecture and urbanism. The main goal of the research is to develop mobile applications that help specific target people in daily life situations and that clearly contribute for advances in the fields of computer sciences and social responses. The authors discuss a group of mobile apps that were developed for smartphones and tablets and that respond to the following broad goals: 1) mapping of the physical space in order to adapt it to respond better to the users' needs, 2) adaptation of the physical space to the users' needs, and finally, 3) give the users a better knowledge about the physical space they are in. For each app developed, the authors describe the research problem involved, the goals, the development process, and the developed solution as well as the tests conducted to measure their performance. Usability and satisfaction tests revealed that the developed apps have a good acceptance by the target users.

Nontargeted late effects of radiation include an increased risk of cardiovascular disease, although this is still debatable in the context of low-dose radiation. Tinea capitis patients treated in childhood with X rays to induce scalp epilation received a low dose of radiation to their carotids. To better clarify this issue, we evaluated carotid atherosclerosis in a cohort of such patients treated in 1950–1963 in Portugal. A group of 454 individuals randomly chosen from previously observed Portuguese tinea capitis patients and a control group mainly composed of their spouses (n = 280) were enrolled. Cardiovascular risk factors such as waist circumference, body mass index, blood pressure and tobacco consumption, as well as biochemical measurements were obtained. Ultrasound imaging of carotid arteries for intima media thickness and stenosis evaluation were performed according to a standardized protocol. In comparison to the control group, the irradiated cohort members were significantly older, more frequently never smokers, hypertensive, and presented higher glycated hemoglobin and alkaline phosphatase levels. In addition, the irradiated cohort showed a higher frequency of carotid stenosis ≥30% than the nonirradiated group (13.9% vs. 10.7%), although this was not significant (P = 0.20). Stenosis was ≥50% in 2.9% of the irradiated group and 0.4% of the nonirradiated group (P = 0.02). Likewise, the frequency of intima media thickness ≥1 mm was significantly higher in the irradiated group (16.8% vs. 10.7%; P = 0.02). Multivariate analysis, including other cardiovascular risk factors, showed that exposure to low-dose radiation increased the risk of carotid stenosis by ≥50% [odds ratio (OR) = 8.85; P = 0.04] and intima media thickness by ≥1 mm (OR = 1.82; P = 0.02). These findings confirm that low-dose exposure is a risk factor of carotid atherosclerotic disease.

Video games often either have good single player campaign modes or good multi-player campaign-less modes. This paper presents a framework aimed at the full game development pipeline, from designers to programmers, to aid in creating multiplayer campaigns by providing components that help singleplayer story modes to be used in multiplayer interaction settings. We also propose a custom matchmaking system capable of matching players so as to intertwine their individual stories. The proposed framework has been validated in a case study. A set of experimental results show that the framework is capable of producing valuable story crossings and proper matchmaking.

Miliary tuberculosis results from the lymphohematogenous spread of Mycobacterium tuberculosis and it is a rare form of this disease. The most affected places are the lymph nodes, pleura, and osteoarticular system, but any organ can be involved. Currently the disease is still endemic in developing countries by its close association with poor living conditions and malnutrition. Other comorbidities, particularly infection by human immunodeficiency virus (HIV), diabetes mellitus, smoking and alcoholism are of great importance in the epidemiology of this disease. The authors describe the case of an adult man from Guinea-Bissau that has been residing in Portugal for the last few months, admitted with complaints of headache. He was submitted to a computerized tomography (CT) scan of the brain which showed multiple lesions. This led to further study and the diagnosis of a disseminated tuberculosis with cerebral, liver, prostate and retroesophageal involvement. He was started on anti-tuberculosis therapy, achieving good results.

Cloud Computing paradigm can provide Higher Education Institutions a tool to reduce costs and boost efficiency to current and future resources' configurations within the institutions. This means more integration and interaction between datacenters, following a growing demand for computational power. To meet these goals, we propose in this article a set of guidelines and a supporting model, developed to address the referred issues. The work was set to defined a "cookbook" for the best practices in the conception, design and implementation of an academic hybrid cloud federation between Higher Education Institutions. The model relies on integration between several private clouds within Higher Education Institutions, disclosing it as a single cloud with more aggregated features/resources than the individual clouds, keeping the essence and intrinsic autonomy of each institution, supporting platform heterogeneity, and providing a different level of relationship and integration that each institution wishes to undertake.

Nuclear fusion power plants require periodical maintenance, including the remote handling operations of transportation performed by automated guided vehicles (AGV). The navigation system becomes a key issue given the safety constrains of the heavy load to be transported in the complex scenarios, such as the reactor building. This work presents well-known and mature navigation technologies used by AGV in industry: with a physical path (e.g., wire/inductive guidance, optical line guidance and magnetic tape guidance) and with a virtual path (e.g., laser based, motion capture, inertial, magnetic-gyro) to be followed by the AGV during the operations of transportation. A critical assessment is also presented regarding the performance of these technologies against the operational requirements and safety demonstration in the framework of fusion facilities like ITER (International Thermonuclear Experimental Reactor) or DEMO (DEMOnstration Power Station).

Head and neck cancers, and cardiovascular disease have been described as late effects of low dose radiation (LDR) exposure, namely in tinea capitis cohorts. In addition to radiation dose, gender and younger age at exposure, the genetic background might be involved in the susceptibility to LDR late effects. The -174 G>C (rs1800795) SNP in IL6 has been associated with cancer and cardiovascular disease, nevertheless this association is still controversial. We assessed the association of the IL6-174 G>C SNP with LDR effects such as thyroid carcinoma, basal cell carcinoma and carotid atherosclerosis in the Portuguese tinea capitis cohort. The IL6-174 G>C SNP was genotyped in 1269 individuals formerly irradiated for tinea capitis. This sampling group included thyroid cancer (n = 36), basal cell carcinoma (n = 113) and cases without thyroid or basal cell carcinoma (1120). A subgroup was assessed for atherosclerosis by ultrasonography (n = 379) and included matched controls (n = 222). Genotypes were discriminated by real-time PCR using a TaqMan SNP genotyping assay. In the irradiated group, we observed that the CC genotype was significantly associated with carotid plaque risk, both in the genotypic (OR = 3.57, CI = 1.60-7.95, p-value = 0.002) and in the recessive (OR = 3.02, CI = 1.42-6.42, p-value = 0.004) models. Irradiation alone was not a risk factor for carotid atherosclerosis. We did not find a significant association of the IL6-174 C allele with thyroid carcinoma or basal cell carcinoma risk. The IL6-174 CC genotype confers a three-fold risk for carotid atherosclerotic disease suggesting it may represent a genetic susceptibility factor in the LDR context.

In the last two decades the use of technology in art projects has proliferated, as is the case of the interactive projections based on movement used in artistic performances and installations. However, the artists responsible for creating this work typically have to rely on computer experts to implement this type of interactive systems. The tool herein presented, MotionDesigner, intends to assist the design of these systems by providing artists with higher levels of autonomy and efficiency during the creative process, allowing them to specify the rules by which a human body interacts with both the audio and the visuals used in their interactive art work. The presented tool relies on an RGB-D camera to modulate the multimedia content according to the performer's body motion. MotionDesigner is extensible so as to accommodate additions required by artists. The tool has been tested with dancers, choreographers, and architects. Results show that MotionDesigner is a valuable aid to artists, working as a catalyst of their creative process.