Next-Generation Sequencing of Hereditary Hemochromatosis-Related Genes: Novel Likely Pathogenic Variants Found in the Portuguese Population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.

Symptom Clusters and Survival in Portuguese Patients with Advanced Cancer

This study aimed to identify clusters of symptoms, to determine the patient characteristics associated with identified, and determine their strength of association with survival in patients with advanced cancer (ACPs). Consecutively eligible ACPs not receiving cancer-specific treatment, and referred to a Tertiary Palliative Care Clinic, were enrolled in a prospective cohort study. At first consultation, patients rated 9 symptoms through the Edmonton Symptom Assessment System (0-10 scale) and 10 others using a Likert scale (1-5). Principal component analysis was used in an exploratory factor analysis to identify. Of 318 ACPs, 301 met eligibility criteria with a median (range) age of 69 (37-94) years. Three SCs were identified: neuro-psycho-metabolic (NPM) (tiredness, lack of appetite, lack of well-being, dyspnea, depression, and anxiety); gastrointestinal (nausea, vomiting, constipation, hiccups, and dry mouth) and sleep impairment (insomnia and sleep disturbance). Exploratory factor analysis accounted for 40% of variance of observed variables in all SCs. Shorter survival was observed for patients with the NPM cluster (58 vs. 23, P < 0.001), as well as for patients with two or more SCs (45 vs. 21, P = 0.005). In a multivariable model for survival at 30-days, age (HR: 0.98; 95% CI: 0.97-0.99; P = 0.008), hospitalization at inclusion (HR: 2.27; 95% CI: 1.47-3.51; P < 0.001), poorer performance status (HR: 1.90, 95% CI: 1.24-2.89; P = 0.003), and NPM (HR: 1.64; 95% CI: 1.17-2.31; P = 0.005), were associated with worse survival. Three clinically meaningful SC in patients with advanced cancer were identifiable. The NPM cluster and the presence of two or more SCs, had prognostic value in relation to survival.

Cancer diagnosis disclosure from Portuguese physicians

OBJECTIVE: Doctor-patient communication in oncology, particularly concerning diagnostic disclosure, is a crucial factor related to the quality of the doctor-patient relationship and the psychological state of the patient. The aims of our study were to investigate physicians' opinions and practice with respect to disclosure of a cancer diagnosis and to explore potential related factors. METHOD: A self-report questionnaire developed for our study was responded to by 120 physicians from Coimbra University Hospital Centre and its primary healthcare units. RESULTS: Some 91.7% of physician respondents generally disclosed a diagnosis, and 94.2% were of the opinion that the patient knowing the truth about a diagnosis had a positive effect on the doctor-patient relationship. A need for training about communicating with oncology patients was reported by 85.8% of participants. The main factors determining what information to provide to patients were: (1) patient intellectual and cultural level, (2) patient desire to know the truth, and (3) the existence of family. SIGNIFICANCE OF RESULTS: Our results point to a paradigm shift in communication with cancer patients where disclosure of the diagnosis should be made part of general clinical practice. Nevertheless, physicians still experience difficulties in revealing cancer diagnoses to patients and often lack the skills to deal with a patient's emotional responses, which suggests that more attention needs to be focused on communication skills training programs.

An overview on how failure analysis contributes to flight safety in the Portuguese Air Force

Failure analysis has been, throughout the years, a fundamental tool used in the aerospace sector, supporting assessments performed by sustainment and design engineers mainly related to failure modes and material suitability. The predicted service life of aircrafts often exceeds 40 years, and the design assured life rarely accounts for all in service loads and in service environmental menaces that aging aircrafts must deal with throughout their service lives. From the most conservative safe-life conceptual design approaches to the most recent on-condition based design approaches, assessing the condition and predicting the failure modes of components and materials are essential for the development of adequate preventive and corrective maintenance actions as well as for the accomplishment and optimization of scheduled maintenance programs of aircrafts. Moreover, as the operational conditions of aircrafts may vary significantly from operator to operator (especially in military aircraft), it is necessary to access if the defined maintenance programs are adequate to guarantee the continuous reliability and safe usage of the aircrafts, preventing catastrophic failures which bear significant maintenance and repair costs, and that may lead to the loss of human lives. Thus being, failure analysis and material investigations performed as part of aircraft accidents and incidents investigations arise as powerful tools of the utmost importance for safety assurance and cost reduction within the aeronautical and aerospace sectors. The Portuguese Air Force (PRTAF) has operated different aircrafts throughout its long existence, and in some cases, has operated a particular type of aircraft for more than 30 years, gathering a great amount of expertise in: assessing failure modes of the aircrafts materials; conducting aircrafts accidents and incidents investigations (sometimes with the participation of the aircraft manufacturers and/or other operators); and in the development of design and repair solutions for in-service related problems. This paper addresses several studies to support the thesis that failure analysis plays a key role in flight safety improvement within the PRTAF. It presents a short summary of developed

European student mobility and intercultural learning at a portuguese university

The purpose of this study is to understand, impact and evaluate the development of intercultural communicative competencies among European credit-seeking exchange students and other sojourners through purposeful intercultural pedagogy. This pedagogy encompasses intentional intercultural- educational approaches which aim to support and enhance sojourners’ intercultural learning throughout the study abroad cycle (pre-departure, in-country and reentry phases). To test and validate these pedagogies a 20-hour intervention was designed and implemented among two cohorts of 31 sojourners during the in-country phase of their sojourn in Portugal. The process to develop and validate the intercultural intervention was driven by a mixed-methods methodology which combined quantitative and qualitative data to triangulate, complement and expand research results from a pragmatic stance. The mixed methods research design adopted is multi-phased and encompasses a multi-case study and an evaluative component. The multi-case component is embodied by sojourner cohorts: (1) the primary case study involves 19 incoming students at the University of Aveiro (Portugal) as participants in the European exchange program Campus Europae; (2) the second case study comprises three incoming Erasmus students and nine highly skilled immigrants at the same university. All 31 sojourners attended two intermediate Portuguese as Foreign Language classrooms where the intervention was employed. Data collection was extensive and involved collecting, analyzing and mixing quantitative and qualitative strands across four research phases. These phases refer to the: (1) development, (2) implementation and (3) evaluation of the intervention, as well as to (4) a stakeholder analysis of the external value of the intervention and of the Campus Europae program. Data collection instruments included pre and posttest questionnaires and semi-structured interviews. Results confirm the intercultural effectiveness of the intervention and the positive impact upon research participants’ intercultural gains. This impact was, however, greater in case study 2. Among explanatory variables, three stand out: (1) participant meaning-making abilities, (2) host language proficiency and related variables, and (3) type of sojourn or exchange programs. Implications for further research highlight the need to systematize purposeful intercultural pedagogy in sojourner populations in general, and in European credit student mobility in particular. In the latter case, these pedagogies should be part of the design and delivery of credit-bearing exchange programs in pre- departure, in-country and re-entry phases. Implications for practice point to the urge to improve intercultural practices in: macro (higher education institutions), mezzo (exchange programs) and micro (sojourner language classrooms) contexts where this research took place, and wider social scenarios they represent.

Prevalence of Aspergillus section Fumigati in Portuguese slaughterhouses: a fungal and mycotoxin concern

Introduction - Within the Aspergillus genus, Aspergillus fumigatus species is one of the most ubiquitous saprophytic fungi and is considered the species with higher clinical relevance. The fungi belonging to the Fumigati section are the most common cause of invasive aspergillosis and a major source of infection related mortality in immunocompromised patients. One of the most abundant metabolites produced by Aspergillus fumigatus is the metabolite gliotoxin, which exhibits a diverse array of biologic effects on the immune system. Further, environments contaminated with A. fumigatus may be the cause or enhance respiratory problems in the workers of those specific settings. These species produce specific allergens and mycotoxins that could cause respiratory disorders. Aim of the study - The aim of the present work was to determine the prevalence of Aspergillus section Fumigati by cultural and molecular methods in poultry; swine and bovine; and large animal (bovine and horses) slaughterhouses.

Australian Capital Territory July to December 2015

Decision-making process in Portuguese Erasmus student mobility: case study

With the evolution of nowadays knowledge-based economies, the labour class becomes more competitive. As a way of getting skills that bring benefits to their careers, university students take advantage of the many opportunities available and go abroad to study. This study develops and empirically tests a structural model that examines the antecedents that influence the decision-making process of an Erasmus student under mobility for studies (EMS) in Aveiro, Coimbra and Porto (2014-2015). Reliability analysis, exploratory factor analysis and linear regressions were used to evaluate the model. Based on a survey with a sample of 872 valid responses, this study has demonstrated that EMS students are also influenced by touristic factors, which gives support to what has recently been approached by other authors. Conclusions and suggestions can be applied by other organizations, mainly Higher Education Institutions in order to attract more EMS students.

Povoações, freguesias e vilas na Paraíba Colonial: Pombal e Sousa, 1697-1800

The towns presently named Pombal and Sousa, located in the hinterland of the State of Paraíba, Brazil, still keep vestiges of the colonization process they went through along the 18th and 19th centuries, when they both emerged as settlement nuclei in the extreme West of the then captaincy of Paraíba and attained the status of freguesia and vila in a later period. This research aims to comprehend the process of urban formation and development of the colonial urban nuclei of Pombal and Sousa as they became povoados (hamlets), freguesias (parishes) and vilas (small urban communities with a local government), according to territorial expansion policies implemented by the Portuguese government from 1697 to 1800. The choice of the two urban settlements for this survey lies in the fact that they were part of the great conquest and colonization program undertaken by the Portuguese Crown. Another aspect that was considered was the fact that those towns are the oldest urban nuclei of Paraíba s hinterland. They came into being as early as in the times of the colony, thus producing a favorable environment to the study of the changes that occurred in the captaincy s hinterland scenery resulting from the process of formation and development of the colonial urban space. Three fundamental categories of analysis were defined since they have a direct bearing upon the urban configuration of the two colonization nuclei: povoado, freguesia and vila. The three of them are related to civil and ecclesiastic jurisdictions. Field, documentation and bibliography surveys were undertaken in order to develop the study. They allowed for the finding of vestiges of the old, colonial urban structures and for the development of theoretical analysis based on present-day studies of issues relating to the colonial urban history. The study purposes were, therefore, to try to understand how the old urban nuclei of Pombal and Sousa fit in the territorial expansion policies undertaken by the Portuguese government; to relate the process of urban formation and development of such nuclei with the categories of analysis povoação-freguesia-vila by discussing the relations and influences they exert over one another and their territory, as well as to unveil, as much as possible, the configuration the urban spaces that were shaped along the 18th century

Spanish monarchy and the Portuguese Republic: two routes to democratization

From 1974 to 1986 the Iberian Peninsula was the arena of major political changes. The process then undertaken was characterized by the transition from two Iberian authoritarian regimes to two democracies, which enabled both countries to join the European Economic Community (EEC) on 1 January 1986. However, the political vicissitudes until full membership of what became the European Union (EU) was achieved were very different and were decisively, although not exclusively, influenced by the fact Portugal was a republic and Spain a monarchy. In Portugal the 1974 revolution took place with consequent shift of the head of state while in Spain the engine of change was precisely the head of state: King Juan Carlos I. It is also true that despite the dangers to democracy (terrorism in Spain and some radicalism in Portugal) both societies supported the political parties committed to the democratic process in elections, which helped avoid tensions that could have defeated the process. Likewise, it is possible to argue that in Spain a plan to achieve democracy within the rule of law (an archetypal transition) was designed by the head of state, while in Portugal there was no pre-established plan – the programme of the Armed Forces Movement (Movimento das Forças Armadas [MFA]) was a weak and precarious compromise between different visions of the road to follow, enabling an intense political struggle that almost led to civil war and a dangerous state of crisis.

Occupational exposure to Aflatoxin B1 in a Portuguese poultry slaughterhouse

Aflatoxin B1 (AFB1) is a secondary metabolite produced by the fungi Aspergillus flavus and is the most potent hepatocarcinogen known in mammals and has been classified by the International Agency of Research on Cancer as Group 1 carcinogen. Although dietary exposure to AFB1 has been extensively documented, there are still few studies dedicated to the problem of occupational exposure. Considering recent findings regarding AFB1 occupational exposure in poultry production, it was considered relevant to clarify if there is also exposure in poultry slaughterhouses. Occupational exposure assessment to AFB1 was done with a biomarker of internal dose that measures AFB1 in the serum by enzyme-linked immunosorbent assay. Thirty workers from a slaughterhouse were enrolled in this study. A control group (n = 30) was also considered in order to know AFB1 background levels for Portuguese population. Fourteen workers (47.0%) showed detectable levels of AFB1 with values from 1.06 to 4.03ng ml(-1), with a mean value of 1.73ng ml(-1). No AFB1 was detected in serum of individuals used as controls. Despite uncertainties regarding the exposure route that is contributing more to exposure (inhalation or dermal) is possible to state that exposure to AFB1 is occurring in the slaughterhouse studied. It seems that reducing AFB1 contamination in poultry production can have a positive result in this occupational setting.

O falar paranaense

This book didactically addresses relevant issues for researchers in the linguistic field as well as professors, journalists and whoever else is interested in understating the so called “paranaense dialect”. It is relevant to clarify, however, that there is not one single dialect from Parana as the state has three distinctive dialectal areas. That means the traditional speech from the state corresponds to its historical settlement. The first area dates back to the XVIII century in the center-south-coast direction; the second area dates from the 1920´s and 1930´s matching the arrival of immigrants from Rio Grande do Sul and Santa Catarina in the search for new territories, clearing forestry regions from the Southwest and Western regions in Parana, turning them into harvesting areas. The third linguistic area corresponds to the North and Northwest of Parana, which were colonized in the 1940´s and 1950´s by immigrants from Minas Gerais and São Paulo who came to grow coffee plants in its rich red land. Such dialectal diversity constitutes only a small fraction of what is understood as the Brazilian Portuguese. So, having it described means to collaborate to map the great linguistic mosaic that characterizes the whole Brazilian territory. We then seek to offer readers a small sample of the analyses carried out by researchers concerning the different performances of the Portuguese spoken in Parana (Banco VARSUL, ALERS, Atlas Linguístico do Paraná, Banco VARLINFE). We expect these findings encourage new approaches and Linguistic studies from other regions of the state.

Mental health and suicidal behaviors in adolescents from a Portuguese island

Background: Adolescent suicidal behaviors are a public health priority. Objectives: Suicidal behavior is an understudied field in the Azores, and the few existing research studies with Portuguese adolescents only include young people from Mainland Portugal. This study aims at analyzing the adolescent student population from this island region so as to describe the current situation and plan community intervention projects in this area to meet the identified needs. Methodology: This is a non-experimental, quantitative and descriptive-correlational study with the purpose of describing phenomena and finding associations between variables. Results: The results showed that 17.9% of the 484 sampled adolescents reported self-harm behaviors, with 12.7% reporting self-cutting and 5.2% medication overdose or ingestion of toxic substances. Around 15.5% of the adolescents reported suicidal ideation. Additionally, they showed high levels of depressive symptoms (19.9%), ranging from moderate (12%) to severe (7.9%). Conclusion: Adolescents had more self-harm behaviors, more severe depressive symptoms, a lower self-concept and fewer coping strategies than similar populations in mainland Portugal.

Novana, its territory and the Pisa South Picenum Survey Project II

Si presenta in questa sede una sintesi dei risultati emersi dalle campagne 2014-2015 del Pisa South Picenum Survey Project II, relativo alle alte valli dei fiumi Aso e Tenna, nelle Marche meridionali. Dalle ricognizioni intensive effettuate nel territorio comunale di Amandola (Provincia di FM) è emerso un fitto popolamento rurale costituito da piccole fattorie, databili a partire dalla fine del III sec.a.C., e posizionate all’interno di una griglia centuriale. Questo territorio, con tutta probabilità viritim adsignatus a seguito della lex de agro Gallico et Piceno viritim dividundo del 232 a.C., doveva avvalersi di un polo di aggregazione sociale e amministrativa ubicato nelle vicinanze e ben collegato alla viabilità principale. La posizione strategica, un’accurata analisi dell’assetto centuriale e numerosi rinvenimenti archeologici permettono di identificare questa praefectura nell’area dell’attuale Comunanza dove possiamo localizzare l’antica Novana citata da Plinio (N.H., III, 11)., un centro piceno che divenne, forse, un foro, e poi una praefectura ed infine un municipium.

Portuguese airport efficiency analysis: the case study of Oporto

The Oporto Airport located in the northern region in Porto city is crucial because is the only one located in the northern region. This airport had an increasing in number of passengers, sales revenue and accumulated investment during the last two decades, principally after the introduction and the operation of the Low Cost Companies since 2004 to the present. In order to determine if the last changes had an impact in the competitiveness of this airport, the main aims is to analise the evolution of values of the technical efficiency and equate the results before and after the introduction of the LCCs in this airport. The methodology uses the Data Envelopment Analysis. Results show that the Oporto Airport efficiency increases highly after the introduction of LCCs since 2004. The main conclusions suggest the importance of the introduction of LCCs in the increasing efficiency of the Oporto Airport and the potential relation with tourism development in this region, but more strong studies are needed.