Hélder Freitas - Academia.edu (original) (raw)
Papers by Hélder Freitas
Journal of Respiratory Research, 2016
Respiratory disease is a broader concept that includes any pathology affecting airways or any of ... more Respiratory disease is a broader concept that includes any pathology affecting airways or any of its structures and organs [1]. Also, the pathologies affecting human respiration have a wide range on its aetiologies, from environmental, namely viral or bacterial infections and different sources and sorts of pollution or allergens, until genetic causes, together with a more or less complex admixture of both [2,3,4]. Contributing as well for its conceptual amplitude is the extensive gradient of severity levels that the multiple respiratory diseases assume, from simple flu and cough to chronic and severe pathologies. Accordingly to the World Health Organization, chronic respiratory diseases affect hundreds of millions worldwide, being asthma, with 300 millions, and chronic obstructive pulmonary disease (COPD), with 210 millions, the most prevalent [5]. However, lower respiratory infection diseases are one of the leading causes of death on the world, assuming the fourth position, after COPD, with the responsibility for 3.1 million lives lost in 2012 [6]. Since it is an outside open system, respiratory tract is a privileged way to pathogens entry into the body. However, despite this vulnerability and mostly because of it, one of the immune system defence first lines is precisely located in the respiratory system, especially in epithelium airways, in order to protect it, and the entire organism, from infections. When the inhaled foreign organisms contact with the airway epithelium they are confronted with a protective arsenal that ranges from physical barriers and antimicrobial compounds until immune receptors, which lead to the production of cytokines and chemokines that may affect microorganisms directly but also recruit immune cells [7]. On the development of respiratory infectious diseases, host genetics play an important role. In fact, since the organism ability to oppose to any outside aggression is greatly influenced by its genetic characteristics, especially those defining the immune system structure and function, the susceptibility to viral or bacterial respiratory infections would be, at least partially, defined by its genome [8,9]. Despite often providing conflicting results, several studies identified and evaluated hundreds of candidate-genes for respiratory infectious disease susceptibility and, among those, several genetic markers were confirmed has been positively associated [10,11] .
Revista Pedra & Cal, 2008
![Research paper thumbnail of [HLA-B27 polymorphism and spondyloarthropathies]](https://attachments.academia-assets.com/105998464/thumbnails/1.jpg)
](Acta medica portuguesa, 2005
The association of HLA-B27 with ankylosing spondylitis (AS), and other spondyloarthropathies (SpA... more The association of HLA-B27 with ankylosing spondylitis (AS), and other spondyloarthropathies (SpA), remains as one of the strongest between HLA molecules and human disease. Since it was reported, in 1973, it has been extensively studied in order to understand the underlying pathogenic mechanism. The objective of this article is to review the current knowledge on the structure and polymorphism of HLA-B27 molecule, as well as describe the main pathogenic hypotheses trying to explain its association with AS.
O Ensino das Ciências, à semelhança de outras áreas educativas, tem de se adaptar às novas vivênc... more O Ensino das Ciências, à semelhança de outras áreas educativas, tem de se adaptar às novas vivências e exigências sociais. Associada a esta preocupação surge, indubitavelmente, a palavra literacia. Esta tem sido apresentada como uma proposta de melhoria da educação, impelindo ao desenvolvimento de práticas educativas conducentes à melhoria das aprendizagens. No entanto, para promover o ensino na literacia científica é necessário revisitar conceitos básicos relativos à didática, esclarecendo as seguintes questões: COMO ensinar, aprender e melhorar o Ensino das Ciências.
A crise ecológica provocada e acentuada pela humanidade está a atingir proporções alarmantes. Os ... more A crise ecológica provocada e acentuada pela humanidade está a atingir proporções alarmantes. Os desequilíbrios ambientais extravasaram há muito a dimensão local e com as alterações climáticas atingiram um efeito global sistémico deveras preocupante. Para além da fé em tecnologias mais limpas e eficientes, as soluções mais esperançosas têm residido em transformações a operar pela educação ambiental, em particular como processo promotor da literacia ambiental. No entanto, apesar das já longas décadas de algum esforço nesta estratégia, é inegável que os resultados são insuficientes face à dimensão da crise e à profundidade das mudanças a operar. Como consequência, os desequilíbrios ambientais agravam-se de ano para ano, exigindo outro enquadramento e uma atuação mais consequente. Assim, como sinal de reorientação da estratégia que tem sido seguida nas últimas décadas e como forma de ganhar eficácia e dar profundidade às transformações sociais necessárias, propõe-se como novo e mais completo desafio da educação ambiental a promoção da Cultura Ambiental.
New Horizons in Education, 2014
Since the 1970's, education is internationally recognized as the main path to tackle the growing ... more Since the 1970's, education is internationally recognized as the main path to tackle the growing environmental crisis. In Portugal, forty years after engaging in Democracy and, at the same time, in Environmental Education, it still a matter of discussion and calls for an analysis on the path that have been followed. Despite a reality since the very beginning of Democracy in Portugal, after the 25th April 1974, it was only in 1986, with the accession to the European Economic Community and the publication of the Portuguese Education System Law, that Environmental Education started to be included in the goals of Public School. However, since then, the course of Environmental Education has been driven mostly by external forces, from outside the education system, and has been more dependent on the involvement of teachers, individually, than on the school institution as an all. In a time in which Portuguese Public School, as many other State public services, is deeply affected by an ongoing process of "slimming" due to the financial and economic crisis, we need to understand the Environmental Education past decade's route and analyze the most probable consequences due to the current situation.
International Electronic Journal of Environmental Education, 2016
Demographic factors are among those that influence environmental literacy and, particularly, envi... more Demographic factors are among those that influence environmental literacy and, particularly, environmentally responsible behaviours, either directly or due to an aggregation effect dependent on other types of variables. Present study evaluates a set of demographic variables as predictors for environmental literacy among 9th grade students from Madeira Island (Portugal). Through a survey involving 491 students, gender, place of residence (rural and urban), 8 th grade Natural Sciences discipline performance, participation in school's environmental activities and, indirectly, socioeconomic status were evaluated in their association to environmental literacy and, particularly, to each of its three main components: knowledge, attitude and behaviour. The results confirm three stronger environmental literacy predictors: rural or urban residence, depending on the components considered, higher marks in 8th grade Natural Sciences discipline and higher socioeconomic status; and two weaker: female and participation in school's environmental activities. Our findings found support in previous studies and underline the need to center socio-demographic factors in environmental education practices. Considering demographic variables as the reflex of environmental, economic and socio-cultural contexts, our results corroborate an environmental literacy's construction framework on the light of Vygotsky's socio-cultural theory of human learning, in which real learning contexts play a fundamental role. In fact, also in environmental literacy, learning occurs through the interaction with the social environment and, to be effective, needs real learning contexts. Demographic variables confirmed as being predictors for environmental literacy in Madeira Island students seems to mirror the effects of the above framework and show strong evidences of linkage with socioeconomic status.
Tissue Antigens, 2008
Human leukocyte antigen (HLA)-A locus polymorphisms were examined at highresolution level, using ... more Human leukocyte antigen (HLA)-A locus polymorphisms were examined at highresolution level, using sequence-based typing, in the four most representative Guinea-Bissau (Northwest Africa) ethnic groups: Balanta, Bijago´s, Fula and Papel. Despite the Fula group having significant differences when compared with the other three ethnic groups, all four groups most likely received a genetic input from non sub-Saharans. The Bijago´s and Papel groups showed similarities to neighboring populations from Mali and Senegal. The Balanta, despite their oral tradition of an East Africa origin, show affinities to Cameroon populations, highly influenced by Bantu migrations. These results are congruent with historical sources and other genetic studies that support the finding that the Guinea-Bissau genetic pool was influenced by several migrations from North Africa, Sahara and East Africa.
Molecular Phylogenetics and Evolution, 2003
Partial sequences from two mitochondrial DNA genes, cytochrome b and 12S rRNA, were used to asses... more Partial sequences from two mitochondrial DNA genes, cytochrome b and 12S rRNA, were used to assess the phylogenetic relationships of populations of Lacerta dugesii from the volcanic Atlantic islands of Madeira, the Desertas, Porto Santo, and the Selvagens. All four-island groups are genetically distinguishable and populations within each contain similar degrees of genetic diversity. Molecular clock estimates suggest that the islands were colonized much later after their emergence compared to other Atlantic islands, possibly due to their greater geographical isolation. Mismatch analysis of all populations is consistent with exponential growth, as expected after colonization of empty niches. The Selvagens contain genetic substructuring between the islets.
Annals of Hematology, 2010
Background: Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessiv... more Background: Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two additional mutations, H63D and S65C, appear to be associated with a milder form of HH. The aim of this study was to develop a high-throughput assay for HFE mutations screening based on TaqMan technology and to determine the frequencies of HFE mutations in the Slovenian population. Methods: Altogether, 1282 randomly selected blood donors from different Slovenian regions and 21 HH patients were analyzed for the presence of HFE mutations by an in-house developed real-time PCR assay based on TaqMan technology using shorter non-interfering fluorescent single nucleotide polymorphism (SNP)-specific MGB probes. The assay was validated by RFLP analysis and DNA sequencing. Results: The genotyping assay of the H63D, S65C and C282Y mutations in the HFE gene, based on TaqMan technology proved to be fast, reliable, with a high-throughput capability and 100% concordant with genotypes obtained by RFLP and DNA sequencing. The observed frequency of C282Y homozygotes in the group of HH patients was only 48%, others were of the heterogeneous HFE genotype. Among 1282 blood donors tested, the observed H63D, S65C and C282Y allele frequency were 12.8% (95% confidence interval (CI) 11.5-14.2%), 1.8% (95% CI 1.4-2.5%) and 3.6% (95% CI 3.0-4.5%), respectively. Approximately 33% of the tested subjects had at least one of the three HH mutations, and 1% of them were C282Y homozygotes or compound heterozygotes C282Y/H63D or C282Y/S65C, presenting an increased risk for iron overload disease. A significant variation in H63D allele frequency was observed for one of the Slovenian regions. Conclusion: The improved real-time PCR assay for H63D, S65C and C282Y mutations detection is accurate, fast, cost-efficient and ready for routine screening and diagnostic procedures. The genotype frequencies in the Slovenian population agree with those reported for the Central European populations although some deviations where observed in comparison with other populations of Slavic origin. Regional distribution of the mutations should be considered when planning population screening.
New Horizons in Education, 2015
Has a contribution to evaluate present levels of environmental literacy in Madeira Island (Portug... more Has a contribution to evaluate present levels of environmental literacy in Madeira Island (Portugal), we developed a survey involving 491 9th grade students and found a good level of knowledge (71.8%), a strong tendency to agree with the New Ecological Paradigm (58.2%) and an encouraging level of environmentally responsible behaviors (47.9%) in a ‘very often’ and ‘always’ basis. Results from present study should be considered to improve environmental education programs in place, especially in Portugal and Madeira Island, but new surveys were needed to evaluate other age groups as also the relationship between different components of environmental literacy. INTRODUCTION Environmentally literate citizenry, being an important prerequisite to maintain and improve the quality of the environment, becomes the environmental education main purpose (Disinger & Roth, 1992). Since environmental literacy is a complex concept and also, in practice, difficult to be achieved, along past decades dif...
Bp-Base pairs (pares de bases) d.C.-Depois de Cristo DC-Doença celíaca (celiac desease) DNA-Deoxy... more Bp-Base pairs (pares de bases) d.C.-Depois de Cristo DC-Doença celíaca (celiac desease) DNA-Deoxyribonucleic acid (ácido desoxiribonucleíco) HIV-Human immunodeficiency virus HLA-Human leukocyte antigens Kb-Kilobases Mb-Megabases MHC-Major histocompatibility complex PCA-Principal component analysis PCO-Principal coordinates analysis PCR-Polymerase chain reaction SBT-Sequence based typing RFLP-Restriction fragment length polymorphysm SSOP-Sequence specific oligonucleotide probes SSP-Sequence specific priming STR-Short tandem repeat Os dados obtidos nos genes do sistema HLA corroboram as fontes históricas que confirmam que o povoamento dos Açores teve o contributo de outros Europeus, essencialmente Flamengos, para além dos Portugueses. As frequências alélicas e haplotípicas neste arquipélago não apresentam uma distribuição homogénea entre as ilhas do grupo Oriental e Central. O grupo Central revela uma influência clara da Europa Central e uma muito menor afinidade a Portugal continental. As frequências alélicas e haplotípicas mostram que a ilha da Madeira foi povoada por Europeus, a maioria Portugueses, mas também por sub-Saharianos devido ao comércio de escravos. Cabo Verde não é uma população tipicamente sub-Sahariana pois revela uma importante influência genética Europeia, para além da base genética Africana. A análise dos haplotipos e dendrogramas mostram uma influência genética Caucasiana no actual pool genético Cabo-Verdiano. Os dendrogramas e a análise das coordenadas principais mostram que os Guineenses são mais semelhantes aos Norte Africanos do que qualquer outra população sub-Sahariana já estudada ao nível do sistema HLA, provavelmente devido a contactos históricos com outros povos, nomeadamente Árabes do Este Africano e Berberes.
info:eu-repo/semantics/publishedVersio
Science education international, 2015
The main goal of environmental education is to improve environmental literacy, including not just... more The main goal of environmental education is to improve environmental literacy, including not just more knowledge but also a better attitude toward the environment and a higher prevalence of pro-environmental behaviours. The Eco-School Program is considered the world largest environmental education program for schools, but it keeps growing without proof of its particular effectiveness in improving environmental literacy. This study compares the level of environmental literacy on Madeira Island (Portugal) among 9th grade students from Eco-Schools and ordinary schools. It applies a questionnaire with three components, addressing knowledge, attitude and behaviour toward the environment. Results show that environmental literacy among 9th grade Eco- School students is not significantly higher than in ordinary schools. However, there are some features of environmental literacy that are slightly better in Eco-Schools, namely in knowledge, attitude and behaviours. Based on our findings, we c...
Waste Management, 2011
Increases in recycling rates are dependent on public participation in the separation of each recy... more Increases in recycling rates are dependent on public participation in the separation of each recyclable fraction. However, public participation varies according to the specific recycling system implemented and the level of acquired awareness. Individual participation in recycling programs increases not only through increased awareness but also with user-friendly program designs aimed at reducing distances between household and collection points (Garcês et al., 2002). Over the past two decades, door-to-door wet–dry collection systems have been implemented in several cities in Europe and North America, demonstrating good results with increased public participation and recycling rates. Most wet–dry collection systems consist in a waste selection in two streams: one for ‘‘wet’’ materials such as organics (yard and food waste) and other soiled waste, namely contaminated packaging, diapers and napkins; and other for ‘‘dry’’ material that includes everything else that is clean and could be...
Journal of Respiratory Research, 2017
HLA cell-surface glycoprotein molecules act in the very beginning of the allergic sensitization p... more HLA cell-surface glycoprotein molecules act in the very beginning of the allergic sensitization process, making them natural candidates for research on the genetic susceptibility for respiratory allergies. Thus, along past decades, this topic has been subject to some research and, consequently, several HLA alleles have been implicated in respiratory allergic diseases development. Current editorial introduces, revise, summarize, and comment the major advances in the role of HLA genes for the development of, and protection against, respiratory allergic disease. A general picture is drawn and new challenges on the field are relocated, especially those that might enlighten respiratory allergies aetiology and, thus, contribute in advances for diagnosis and treatment.
Journal of Respiratory Research, 2016
Respiratory disease is a broader concept that includes any pathology affecting airways or any of ... more Respiratory disease is a broader concept that includes any pathology affecting airways or any of its structures and organs [1]. Also, the pathologies affecting human respiration have a wide range on its aetiologies, from environmental, namely viral or bacterial infections and different sources and sorts of pollution or allergens, until genetic causes, together with a more or less complex admixture of both [2,3,4]. Contributing as well for its conceptual amplitude is the extensive gradient of severity levels that the multiple respiratory diseases assume, from simple flu and cough to chronic and severe pathologies. Accordingly to the World Health Organization, chronic respiratory diseases affect hundreds of millions worldwide, being asthma, with 300 millions, and chronic obstructive pulmonary disease (COPD), with 210 millions, the most prevalent [5]. However, lower respiratory infection diseases are one of the leading causes of death on the world, assuming the fourth position, after COPD, with the responsibility for 3.1 million lives lost in 2012 [6]. Since it is an outside open system, respiratory tract is a privileged way to pathogens entry into the body. However, despite this vulnerability and mostly because of it, one of the immune system defence first lines is precisely located in the respiratory system, especially in epithelium airways, in order to protect it, and the entire organism, from infections. When the inhaled foreign organisms contact with the airway epithelium they are confronted with a protective arsenal that ranges from physical barriers and antimicrobial compounds until immune receptors, which lead to the production of cytokines and chemokines that may affect microorganisms directly but also recruit immune cells [7]. On the development of respiratory infectious diseases, host genetics play an important role. In fact, since the organism ability to oppose to any outside aggression is greatly influenced by its genetic characteristics, especially those defining the immune system structure and function, the susceptibility to viral or bacterial respiratory infections would be, at least partially, defined by its genome [8,9]. Despite often providing conflicting results, several studies identified and evaluated hundreds of candidate-genes for respiratory infectious disease susceptibility and, among those, several genetic markers were confirmed has been positively associated [10,11] .
Revista Pedra & Cal, 2008
Acta medica portuguesa, 2005
The association of HLA-B27 with ankylosing spondylitis (AS), and other spondyloarthropathies (SpA... more The association of HLA-B27 with ankylosing spondylitis (AS), and other spondyloarthropathies (SpA), remains as one of the strongest between HLA molecules and human disease. Since it was reported, in 1973, it has been extensively studied in order to understand the underlying pathogenic mechanism. The objective of this article is to review the current knowledge on the structure and polymorphism of HLA-B27 molecule, as well as describe the main pathogenic hypotheses trying to explain its association with AS.
O Ensino das Ciências, à semelhança de outras áreas educativas, tem de se adaptar às novas vivênc... more O Ensino das Ciências, à semelhança de outras áreas educativas, tem de se adaptar às novas vivências e exigências sociais. Associada a esta preocupação surge, indubitavelmente, a palavra literacia. Esta tem sido apresentada como uma proposta de melhoria da educação, impelindo ao desenvolvimento de práticas educativas conducentes à melhoria das aprendizagens. No entanto, para promover o ensino na literacia científica é necessário revisitar conceitos básicos relativos à didática, esclarecendo as seguintes questões: COMO ensinar, aprender e melhorar o Ensino das Ciências.
A crise ecológica provocada e acentuada pela humanidade está a atingir proporções alarmantes. Os ... more A crise ecológica provocada e acentuada pela humanidade está a atingir proporções alarmantes. Os desequilíbrios ambientais extravasaram há muito a dimensão local e com as alterações climáticas atingiram um efeito global sistémico deveras preocupante. Para além da fé em tecnologias mais limpas e eficientes, as soluções mais esperançosas têm residido em transformações a operar pela educação ambiental, em particular como processo promotor da literacia ambiental. No entanto, apesar das já longas décadas de algum esforço nesta estratégia, é inegável que os resultados são insuficientes face à dimensão da crise e à profundidade das mudanças a operar. Como consequência, os desequilíbrios ambientais agravam-se de ano para ano, exigindo outro enquadramento e uma atuação mais consequente. Assim, como sinal de reorientação da estratégia que tem sido seguida nas últimas décadas e como forma de ganhar eficácia e dar profundidade às transformações sociais necessárias, propõe-se como novo e mais completo desafio da educação ambiental a promoção da Cultura Ambiental.
New Horizons in Education, 2014
Since the 1970's, education is internationally recognized as the main path to tackle the growing ... more Since the 1970's, education is internationally recognized as the main path to tackle the growing environmental crisis. In Portugal, forty years after engaging in Democracy and, at the same time, in Environmental Education, it still a matter of discussion and calls for an analysis on the path that have been followed. Despite a reality since the very beginning of Democracy in Portugal, after the 25th April 1974, it was only in 1986, with the accession to the European Economic Community and the publication of the Portuguese Education System Law, that Environmental Education started to be included in the goals of Public School. However, since then, the course of Environmental Education has been driven mostly by external forces, from outside the education system, and has been more dependent on the involvement of teachers, individually, than on the school institution as an all. In a time in which Portuguese Public School, as many other State public services, is deeply affected by an ongoing process of "slimming" due to the financial and economic crisis, we need to understand the Environmental Education past decade's route and analyze the most probable consequences due to the current situation.
International Electronic Journal of Environmental Education, 2016
Demographic factors are among those that influence environmental literacy and, particularly, envi... more Demographic factors are among those that influence environmental literacy and, particularly, environmentally responsible behaviours, either directly or due to an aggregation effect dependent on other types of variables. Present study evaluates a set of demographic variables as predictors for environmental literacy among 9th grade students from Madeira Island (Portugal). Through a survey involving 491 students, gender, place of residence (rural and urban), 8 th grade Natural Sciences discipline performance, participation in school's environmental activities and, indirectly, socioeconomic status were evaluated in their association to environmental literacy and, particularly, to each of its three main components: knowledge, attitude and behaviour. The results confirm three stronger environmental literacy predictors: rural or urban residence, depending on the components considered, higher marks in 8th grade Natural Sciences discipline and higher socioeconomic status; and two weaker: female and participation in school's environmental activities. Our findings found support in previous studies and underline the need to center socio-demographic factors in environmental education practices. Considering demographic variables as the reflex of environmental, economic and socio-cultural contexts, our results corroborate an environmental literacy's construction framework on the light of Vygotsky's socio-cultural theory of human learning, in which real learning contexts play a fundamental role. In fact, also in environmental literacy, learning occurs through the interaction with the social environment and, to be effective, needs real learning contexts. Demographic variables confirmed as being predictors for environmental literacy in Madeira Island students seems to mirror the effects of the above framework and show strong evidences of linkage with socioeconomic status.
Tissue Antigens, 2008
Human leukocyte antigen (HLA)-A locus polymorphisms were examined at highresolution level, using ... more Human leukocyte antigen (HLA)-A locus polymorphisms were examined at highresolution level, using sequence-based typing, in the four most representative Guinea-Bissau (Northwest Africa) ethnic groups: Balanta, Bijago´s, Fula and Papel. Despite the Fula group having significant differences when compared with the other three ethnic groups, all four groups most likely received a genetic input from non sub-Saharans. The Bijago´s and Papel groups showed similarities to neighboring populations from Mali and Senegal. The Balanta, despite their oral tradition of an East Africa origin, show affinities to Cameroon populations, highly influenced by Bantu migrations. These results are congruent with historical sources and other genetic studies that support the finding that the Guinea-Bissau genetic pool was influenced by several migrations from North Africa, Sahara and East Africa.
Molecular Phylogenetics and Evolution, 2003
Partial sequences from two mitochondrial DNA genes, cytochrome b and 12S rRNA, were used to asses... more Partial sequences from two mitochondrial DNA genes, cytochrome b and 12S rRNA, were used to assess the phylogenetic relationships of populations of Lacerta dugesii from the volcanic Atlantic islands of Madeira, the Desertas, Porto Santo, and the Selvagens. All four-island groups are genetically distinguishable and populations within each contain similar degrees of genetic diversity. Molecular clock estimates suggest that the islands were colonized much later after their emergence compared to other Atlantic islands, possibly due to their greater geographical isolation. Mismatch analysis of all populations is consistent with exponential growth, as expected after colonization of empty niches. The Selvagens contain genetic substructuring between the islets.
Annals of Hematology, 2010
Background: Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessiv... more Background: Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two additional mutations, H63D and S65C, appear to be associated with a milder form of HH. The aim of this study was to develop a high-throughput assay for HFE mutations screening based on TaqMan technology and to determine the frequencies of HFE mutations in the Slovenian population. Methods: Altogether, 1282 randomly selected blood donors from different Slovenian regions and 21 HH patients were analyzed for the presence of HFE mutations by an in-house developed real-time PCR assay based on TaqMan technology using shorter non-interfering fluorescent single nucleotide polymorphism (SNP)-specific MGB probes. The assay was validated by RFLP analysis and DNA sequencing. Results: The genotyping assay of the H63D, S65C and C282Y mutations in the HFE gene, based on TaqMan technology proved to be fast, reliable, with a high-throughput capability and 100% concordant with genotypes obtained by RFLP and DNA sequencing. The observed frequency of C282Y homozygotes in the group of HH patients was only 48%, others were of the heterogeneous HFE genotype. Among 1282 blood donors tested, the observed H63D, S65C and C282Y allele frequency were 12.8% (95% confidence interval (CI) 11.5-14.2%), 1.8% (95% CI 1.4-2.5%) and 3.6% (95% CI 3.0-4.5%), respectively. Approximately 33% of the tested subjects had at least one of the three HH mutations, and 1% of them were C282Y homozygotes or compound heterozygotes C282Y/H63D or C282Y/S65C, presenting an increased risk for iron overload disease. A significant variation in H63D allele frequency was observed for one of the Slovenian regions. Conclusion: The improved real-time PCR assay for H63D, S65C and C282Y mutations detection is accurate, fast, cost-efficient and ready for routine screening and diagnostic procedures. The genotype frequencies in the Slovenian population agree with those reported for the Central European populations although some deviations where observed in comparison with other populations of Slavic origin. Regional distribution of the mutations should be considered when planning population screening.
New Horizons in Education, 2015
Has a contribution to evaluate present levels of environmental literacy in Madeira Island (Portug... more Has a contribution to evaluate present levels of environmental literacy in Madeira Island (Portugal), we developed a survey involving 491 9th grade students and found a good level of knowledge (71.8%), a strong tendency to agree with the New Ecological Paradigm (58.2%) and an encouraging level of environmentally responsible behaviors (47.9%) in a ‘very often’ and ‘always’ basis. Results from present study should be considered to improve environmental education programs in place, especially in Portugal and Madeira Island, but new surveys were needed to evaluate other age groups as also the relationship between different components of environmental literacy. INTRODUCTION Environmentally literate citizenry, being an important prerequisite to maintain and improve the quality of the environment, becomes the environmental education main purpose (Disinger & Roth, 1992). Since environmental literacy is a complex concept and also, in practice, difficult to be achieved, along past decades dif...
Bp-Base pairs (pares de bases) d.C.-Depois de Cristo DC-Doença celíaca (celiac desease) DNA-Deoxy... more Bp-Base pairs (pares de bases) d.C.-Depois de Cristo DC-Doença celíaca (celiac desease) DNA-Deoxyribonucleic acid (ácido desoxiribonucleíco) HIV-Human immunodeficiency virus HLA-Human leukocyte antigens Kb-Kilobases Mb-Megabases MHC-Major histocompatibility complex PCA-Principal component analysis PCO-Principal coordinates analysis PCR-Polymerase chain reaction SBT-Sequence based typing RFLP-Restriction fragment length polymorphysm SSOP-Sequence specific oligonucleotide probes SSP-Sequence specific priming STR-Short tandem repeat Os dados obtidos nos genes do sistema HLA corroboram as fontes históricas que confirmam que o povoamento dos Açores teve o contributo de outros Europeus, essencialmente Flamengos, para além dos Portugueses. As frequências alélicas e haplotípicas neste arquipélago não apresentam uma distribuição homogénea entre as ilhas do grupo Oriental e Central. O grupo Central revela uma influência clara da Europa Central e uma muito menor afinidade a Portugal continental. As frequências alélicas e haplotípicas mostram que a ilha da Madeira foi povoada por Europeus, a maioria Portugueses, mas também por sub-Saharianos devido ao comércio de escravos. Cabo Verde não é uma população tipicamente sub-Sahariana pois revela uma importante influência genética Europeia, para além da base genética Africana. A análise dos haplotipos e dendrogramas mostram uma influência genética Caucasiana no actual pool genético Cabo-Verdiano. Os dendrogramas e a análise das coordenadas principais mostram que os Guineenses são mais semelhantes aos Norte Africanos do que qualquer outra população sub-Sahariana já estudada ao nível do sistema HLA, provavelmente devido a contactos históricos com outros povos, nomeadamente Árabes do Este Africano e Berberes.
info:eu-repo/semantics/publishedVersio
Science education international, 2015
The main goal of environmental education is to improve environmental literacy, including not just... more The main goal of environmental education is to improve environmental literacy, including not just more knowledge but also a better attitude toward the environment and a higher prevalence of pro-environmental behaviours. The Eco-School Program is considered the world largest environmental education program for schools, but it keeps growing without proof of its particular effectiveness in improving environmental literacy. This study compares the level of environmental literacy on Madeira Island (Portugal) among 9th grade students from Eco-Schools and ordinary schools. It applies a questionnaire with three components, addressing knowledge, attitude and behaviour toward the environment. Results show that environmental literacy among 9th grade Eco- School students is not significantly higher than in ordinary schools. However, there are some features of environmental literacy that are slightly better in Eco-Schools, namely in knowledge, attitude and behaviours. Based on our findings, we c...
Waste Management, 2011
Increases in recycling rates are dependent on public participation in the separation of each recy... more Increases in recycling rates are dependent on public participation in the separation of each recyclable fraction. However, public participation varies according to the specific recycling system implemented and the level of acquired awareness. Individual participation in recycling programs increases not only through increased awareness but also with user-friendly program designs aimed at reducing distances between household and collection points (Garcês et al., 2002). Over the past two decades, door-to-door wet–dry collection systems have been implemented in several cities in Europe and North America, demonstrating good results with increased public participation and recycling rates. Most wet–dry collection systems consist in a waste selection in two streams: one for ‘‘wet’’ materials such as organics (yard and food waste) and other soiled waste, namely contaminated packaging, diapers and napkins; and other for ‘‘dry’’ material that includes everything else that is clean and could be...
Journal of Respiratory Research, 2017
HLA cell-surface glycoprotein molecules act in the very beginning of the allergic sensitization p... more HLA cell-surface glycoprotein molecules act in the very beginning of the allergic sensitization process, making them natural candidates for research on the genetic susceptibility for respiratory allergies. Thus, along past decades, this topic has been subject to some research and, consequently, several HLA alleles have been implicated in respiratory allergic diseases development. Current editorial introduces, revise, summarize, and comment the major advances in the role of HLA genes for the development of, and protection against, respiratory allergic disease. A general picture is drawn and new challenges on the field are relocated, especially those that might enlighten respiratory allergies aetiology and, thus, contribute in advances for diagnosis and treatment.