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.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene(c.-25GNA). 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.

"Knock, knock! Is it english or portuguese sign language?"

A presente investigação mostra a importância do contacto de crianças muito jovens com línguas estrangeiras. Este trabalho concentra-se na tentativa de investigar, numa abordagem plurilingue, com enfoque para a Língua Inglesa e a Língua Gestual Portuguesa, a sensibilização de um grupo de alunos do 1º Ciclo do Ensino Básico para uma língua diferente da sua língua materna. Nesta pesquisa, adotou-se uma postura de investigação-ação, apoiando-se com grande particularidade numa metodologia qualitativa e com menor relevância numa metodologia quantitativa, onde os alunos, através das várias atividades que desenvolveram foram adquirindo diferentes competências nas duas línguas. Isto permitiu aos alunos despertarem todas as suas potencialidades para a aprendizagem destas duas línguas (Língua Inglesa e Língua Gestual Portuguesa), tendo como ponto de partida a sua sensibilização e a aprendizagem de alguns vocábulos. Acreditamos que esta abordagem plurilíngue poderá auxiliar os alunos no desenvolvimento de habilidades linguísticas, cognitivas e pessoais tais como: a intercompreensão, o conhecimento de características específicas de diferentes línguas existentes em seu redor, a comparação linguística entre elas, a sua compreensão lexical, e por fim a competência em relacionar as línguas a culturas, e acima de tudo, o respeito e valorização da diversidade linguística e cultural. Foram utilizadas nas aulas atividades de nível de compreensão e produção oral, num processo de sensibilização e aprendizagem de alguns vocábulos destas línguas, sendo que os resultados foram posteriormente analisados, através de grelhas de observação das atividades, de dois inquéritos por questionário e fotos. Das observações e conclusões retiradas desta análise, confirmou-se que a sensibilização quanto à Língua Inglesa assim como quanto à Língua Gestual Portuguesa promove o desenvolvimento da criança, assim como a valorização da respetiva diversidade linguística e cultural.

The study of the impact of demand controlled ventilation in energy consumption of offices in Portuguese commercial buildings

Indoor Air 2016 - The 14th International Conference of Indoor Air Quality and Climate

Modeling the impact of social discrimination on the physical and mental health of portuguese gay, lesbian and bisexual people

Background: Despite growing acceptance of same-sex sexuality in Portugal, identity development of lesbian, gay and bisexual (LGB) individuals is still restricted by negative societal attitudes, which maintain the experience of stigmatization and discrimination. The purpose of this study is to document the frequency of discriminatory events experienced by sexual minorities and their association with indicators of physical and mental health in Portugal. Methods: A total of 610 LGB participants completed an online survey (mean age = 34.48, SD = 11.54). Most participants were single and self-identified as gay (73.8%). The survey included five categories of survey items: demographic information, social support, physical health, mental health, and discrimination experiences. Results: Physical and mental health results revealed that bisexual people were more likely to report higher levels of psychological distress than gay men. Overall, between one-fifth and one-fourth of the participants in this sample frequently felt the need to hide their sexual orientation to prevent discrimination experiences across the different settings. Regarding actual discrimination experiences, close to 20% reported having suffered from verbal abuse, followed by close to 10% who suffered from written threats, harassment, and physical threats. A hierarchical multiple regression analysis was performed to assess the effects of anticipated and actual discrimination on mental health. Possible confounding variables were added in the first block – age, sexual orientation, being in a relationship, body mass index, and HIV status. Anticipated and actual discrimination experiences were added in the second block. The first block of the analysis explained 6% of the overall variance, while the second block – discrimination experiences – explained an additional 17%. Conclusion: Portuguese culture and stigma/discrimination create discriminatory experiences which impact LGB people’s health. Unless policies are changed to allow for the acceptance of LGB people, they will continue to experience violence and discrimination as a result of homophobia.

Predictors of stress and depressive mood in portuguese middle-aged women

This cross-sectional study investigates the predictors of psychological symptoms-stress and depressive mood-in a sample of middle-aged women. A community sample of 1,003 women filled in the questionnaires and instruments, which included the Depression, Anxiety and Stress Scales and the Life Events Survey; sociodemographic, health, and menopause-related and lifestyle information was also collected. Structural equation modeling was used to build the model that had stress and depressive mood as dependent variables. Health status (both physical and psychological), recent life events, income and menopausal phase were significantly associated with the frequency of stress and depressive symptoms. Additionally, educational level and parity were also significant predictors of depressive mood. This study emphasizes that psychological symptoms occurrence in midlife depends not only on personal variables (such as health and menopausal status) but also on contextual ones (including recent stressful events) that can be a strong influence on how middle-aged women feel.

Increasing the Visibility of Digital Newspapers Using Wikipedia

Presentation from the MARAC conference in Baltimore, MD on October 16–18, 2014. S15 - Wikipedia: Getting Involved and Increasing Discoverability.

Chromatographic determination of fatty acids profiles in regionally-produced Portuguese goat cheese along curing

The biochemistry of cheese ripening involves mechanisms such as glycolysis, proteolysis and lipolysis. Fatty acids are released by the action of lipases from different sources, milk, rennet, bacteria, moulds included as secondary starters, and other exogenous lipases, during lipolysis [1]. The composition of the lipid fraction contributes positively to the flavour of cheese, for being precursors of more complex aroma compounds responsible for the characteristic “goaty flavour” of goat cheeses [2]. Goat milk is recognized by its easier digestibility, alkalinity, buffering capacity and certain therapeutic values in medicine and human nutrition [3]. A high total content of fatty acids is strongly linked to a rancid and tart off flavour in goat milk and may be considered undesirable in most cheese varieties [4]. In this sense, the purpose of the present study was to examine the composition and changes in fatty acids and saponification value of goat cheese during curing period (2, 7 and 12 months). Goat cheese was made in industrial unit of Cachão - Mirandela (Trás-os- Montes) with raw milk Serrana goats’ race, salt and rennet from animal origin. During the first two months, the samples were stored in a ripening chamber (9.5-11 °C and RH 75-85%). From the second month to one year, the samples were stored in a preservation chamber (10.5-12 °C and RH 75-85%). The fatty acids profile of the inner part of the cheese was analyzed by gas-chromatography coupled to flame ionization detection (GC-FID). The degree of saponification was determined both in the crust and inside the cheese by HCl titration of ethanol KOH solution of the samples. Twenty-six fatty acids (FA) were identified and quantified in the inner part of the cheese (total fat was 45-46 g/100 g during the curing period). Saturated fatty acids (SFA) did not change up to 7 months of curing, increasing only after 12 months, being palmitic (C16:0), stearic (C18:0), myristic (C14:0) and capric (C10:0) acids the most abundant FA in this class. Monounsaturated fatty acids (MUFA) decreased only after 12 months, and oleic acid (C18:1) was the predominant FA. In polyunsaturated fatty acids (PUFA) class, the most abundant were linoleic (C18:2) and linolenic (C18:3) acids, and followed the same tendency of MUFA. This is corroborated by an increase in the degree of saponification, either in the crust as in the inner part of the cheese, after 12 months of curing, probably related with the saturation of the fatty acids [3]. Extra-long curing can be done in cheeses produced with goat milk up to seven months of storage without changing the total fat and individual FA content.

Absence of consistent genetic differentiation among several morphs of Actinia (Actiniaria: Actiniidae) occurring in the portuguese coast

Actinia equina, the beadlet sea anemone, is a very labile species, displaying variable colour patterns, broad habitat choice and diverse modes of reproduction. Historically, studies using genetic markers such as allozymes and differences in habitat choice lead several authors to propose that different colour morphs could represent different species. One of the species defined was A. fragacea. In this paper, the relationships between brown, red and green colour morphs of A. equina and A. fragacea were studied, using two DNA fragments (one mitochondrial and one nuclear). Individuals were sampled from three different areas in Portugal separated by a maximum distance of 500 km. This is the first study applying direct sequencing of selected gene fragments to approach the validity of Actinia morphs as different genetic entities. The results show that, at least in the Portuguese coast, these colour morphs do not correspond to the two valid species recognized in the literature. The existence of cryptic species is discussed.

Traditions and contradictions of sexual function definitions for portuguese heterosexual men and women: medicalization and socially constructed gender effects

© 2015 College of Sexual and Relationship Therapists

Results of a mindfulness-based social-emotional learning program on portuguese elementary students and teachers: a quasi-experimental study

Recently, mindfulness-based social-emotional learning (SEL) approaches have been taught to children in some schools. Due to deficient methodological consistency observed in most studies, their results should be interpreted with caution. Moreover, research on how mindfulness-based SEL approaches benefit teachers is scarce, and the majority of these studies have been conducted in English-speaking countries; therefore, it is uncertain whether these approaches are suited to other cultural backgrounds. The aim of the present study was to evaluate the efficacy of the MindUp curriculum, an SEL program through mindfulness practice for Portuguese students and teachers. Participants included 454 3rd and 4th grade students and 20 teachers from state schools. A quasiexperimental (pre- and post-test) study compared outcomes for an experimental group with a waitlist control group. Data were collected from teachers and children through self-report measures. Results showed that over 50 % of the children who participated in the MindUp program scored above the control group mean in their ability to regulate emotions, to experience more positive affect, and to be more self-compassionate, and over 50 % scored lower in negative affect. In the group of teachers, over 80 % scored above the control group mean in observing, in personal accomplishment, and in self-kindness. Our results contribute to the recent research on the potential added value of mindfulness practices to a SEL program and strengthen the importance for teachers and students of adding to the academic curriculum a SEL program through mindfulness practices.

How to optimize the business model for ConsultaClick an innovative startup in the e-health Portuguese sector

Field lab: Entrepreneurial and innovative ventures

Cybersex in portuguese chatrooms: A study of sexual behaviors related to online sex

The present article is about a particular form of sexual activity on the Internet: cybersex in chatrooms-in Portuguese by Portuguese people. This study aims to identify the reasons for engaging in cybersex on chats and the behavioral domains that characterize this activity. To carry out the study, we developed a self-report questionnaire that we made available on a website. The sample was collected online (n = 400) through the Portuguese Internet Relay Chat. Factor analyses revealed seven domain structures: (a) social skills, (b) preference for cybersex, (c) filter for a later date, (d) sex by phone, (e) fantasies, (f) using masks, and (g) impact on real relationships. We found a huge variety of sexual attitudes and behaviors connected to cybersex in chatrooms and the existence of two major trends: (a) people that use these chats as a starting place for offline relationships (online anonymity prevents the fear of rejection and social sanctions in real life), and (b) people who want and prefer online sex without any interest in further real contacts.

Early life history of larvae and early juvenile atlantic horse mackerel trachurus trachurus off the portuguese west coast

Early life history traits (ELHTs) are key to understand recruitment patterns in marine animals. However, for reef fishes, studies on ELHTs are mainly focused on tropical systems and little is known for temperate reefs. In this study we used SMURFs (Standard Monitoring Units for the Recruitment of Reef Fishes) to collect fish in a temperate rocky reef system (Arrábida Marine Park, Portugal) on a weekly basis for three months during the recruitment period. Six sub-surface SMURFs sampled 2490 Atlantic horse mackerel (Trachurus trachurus) postlarvae and juveniles. Sagittal and lapilli otoliths were extracted from a subsample of 296 fish and ELHTs, such as size and age at settlement, growth rate and age at first secondary growth formation were examined. Additionally, we tested three growth curves and selected the best suited to back-calculate the hatching pattern based on the lengths of all sampled fish. Standard length ranged from 6.13 mm to 48.56 mm and subsampled fish were aged between 19 days to 44 days. Age and size at settlement were estimated between 19 days and 36 days for individuals of 6.13 mm and 24.95 mm, respectively. Otolith shape changed clearly with increasing age and, on average, secondary growth started to form on day 33 (±3 days). Age/length relationship was well described by a Gompertz growth model which was used to back-calculate hatching dates. Four distinct hatching cohorts were identified with fish of the earliest cohort showing a faster body and otolith growth. This study indicates that the nearshore environment might have an important role in the early growth, development and hence recruitment of Atlantic horse mackerel. Information on the early life history of Atlantic horse mackerel is key to understand recruitment processes for this economically and biologically important species.

Portuguese architect's career

This work project addresses the differences and similarities in Portuguese architects’ careers. As a study in the Human Resources Management area, where a contemporary career concept has been gaining strength, it is focused on architects’ careers since they are artistic/technical professional workers with no boundaries or specific motivations. A total of 21 semi-structured in-depth interviews were conducted and studied, with different architects from different age groups and paths, using a qualitative methodology approach. The interviews explored themes as the reasons for deciding to be an architect, challenges and opportunities, academic paths, best projects and future prospects. This study revealed that Portuguese architects have specific motivations, relations and expertise that reflect particular reasons why, how and with whom architects work and what is to them a successful career as an architect.