Refletindo sobre a Prática Pedagógica do 1.º e 2.º CEB e Investigando sobre os Estereótipos de Género Evidenciados por Alunas e por Alunos do 3.º Ano de Escolaridade

O presente relatório foi realizado no âmbito do Mestrado em Ensino do 1.º e do 2.º Ciclos do Ensino Básico. Encontra-se organizado em duas partes, a primeira parte referente à Dimensão Reflexiva e a segunda parte à Dimensão Investigativa. A primeira parte consiste na apresentação dos contextos e intervenientes das Práticas Pedagógicas realizadas e na reflexão crítica e fundamentada acerca do percurso e das situações vivenciadas nos contextos de 1.º e 2.º Ciclos do Ensino Básico, que proporcionaram diversas aprendizagens a nível pessoal, profissional e social da futura professora. A segunda parte consiste na apresentação de um estudo de caso acerca dos estereótipos de género de duas alunas e dois alunos do 3.º ano de escolaridade, antes e após a implementação de uma proposta pedagógica, procurando compreender o papel do/a professor/a na promoção da desconstrução desses estereótipos. Deste modo, definiram-se os seguintes objetivos para o estudo: Identificar os estereótipos de género das alunas e dos alunos antes, durante e após a implementação de uma proposta pedagógica; Avaliar se a proposta pedagógica promove a desconstrução dos estereótipos de género das alunas e dos alunos; Compreender o papel do/a professor/a na promoção da desconstrução de estereótipos de género nos alunos. Os dados recolhidos revelaram que a implementação da proposta pedagógica promoveu a desconstrução de grande parte dos estereótipos de género relativos a comportamentos/tarefas domésticas, profissões e brinquedos, manifestados pelos alunos

Mito o realidad? Influencia de la ideologia en la percepcion social del acoso sexual = Myth or reality? Influence of ideology in the sexual harassment perception

El acoso sexual se ha convertido en un problema de gran importancia en la actualidad social, que sin embargo está invisibilizado. El objeto de este trabajo se centró en indagar posibles factores que influyen en la percepción social del acoso. En un primer estudio, 177 participantes leyeron un escenario de acoso sexual donde un jefe acosa a una trabajadora. Posteriormente contestaban las medidas de interés. En un segundo estudio 65 participantes leyeron un escenario, donde un profesor acosa sexualmente a una estudiante, y después contestaban las medidas de interés. Los principales resultados mostraron que los participantes que toleraban más el acoso, poseían más mitos hacia el acoso sexual y actitudes sexistas, atribuían una mayor culpabilidad a la víctima y percibían la conducta como menos acosadora. Estudios como este podrían ayudar a crear una mayor conciencia social acerca del acoso sexual, con el objetivo de poder detectar e intervenir sobre tales situaciones. Sexual harassment has become an issue of great social importance today. However, it is an invisible problem. This study aimed to investigate possible factors that influence the social perception on sexual harassment. In the first study, 177 participants read a sexual harassment scenario where a boss performs sexually harassing behavior towards a female worker. Then, participants answered the interest measures. In the second study, 65 participants read a harassment scenario where a teacher performs harassing behavior towards a student, and after that, participants answered the interest measures. Main results were that the more tolerance toward sexual harassment, myth acceptance and sexist attitudes had the participants, the more they attributed blame to the victim, and perceived the behavior as less harassing. Studies like this could help to create a bigger social conscience about sexual harassment, with the aim to detect and prevent this situation

Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia

Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule. Globins are encoded by the α- and β-globin gene clusters located at 16p13.3 and 11p15.5, respectively. The pattern of globin genes expression during development is precisely controlled by the interaction of cis-regulatory genomic regions (located in close proximity to and far from genes) with trans-activating/silencing factors within permissive chromatin domains. In fact, approximately 25-65 kb upstream of the α-globin genes there are four multispecies conserved sequences (MCS-R1 to R4) which are critical for the expression regulation of the downstream globin genes. The main objectives of this work were to characterize the molecular lesions underlying eight unusual cases of α-thalassemia or Hb H disease, and to understand their origin and functional consequences. Deletions were detected by Multiplex Ligation-dependent Probe Amplification (MLPA) using the SALSA MLPA P140B HBA kit (MCR-Holland). Additionally, specifically designed synthetic MLPA probes, as well as Gap-PCR and Sanger sequencing were performed for fine deletion breakpoint mapping. We have found seven different deletions (ranging from 3.3 to ≈323 kb), four of them not previously described. The four largest deletions removed all the α-globin genes, whereas the other three deletions removed one or more of the distal regulatory elements keeping the globin genes structurally intact. In one case, only the MCS-R2 (also known as HS-40) was removed and replaced by a 39 nt DNA fragment possibly resulting from a complex rearrangement that introduces new pieces of DNA (probably from Chrs. 3 and 7) bridging the two deletion breakpoints. In the remaining case, no deletion was found and the patient revealed to be a very unusual case of acquired alpha-thalassemia-myelodysplastic syndrome. It is important to detect individuals with this type of uncommon deletions as there is a 25% risk of having a child with Hb Bart’s hydrops fetalis or Hb H disease if their partner is a carrier of an α0-thal or α+-thal allele, respectively. Moreover, further investigation is currently being developed on one of these natural mutants which is bringing new insights into the long-range regulation mechanism of the globin gene expression and to the pathophysiology of the α-thalassemia.N/

Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p

2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, INSA, 8 maio 2017Introduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the most common genetic recessive disorders worldwide. The pathology is characterized by microcytic hypochromic anemia due to reduction of the α-globin chain synthesis, which are essential for hemoglobin tetramerization. Material and Methods: In order to clarify the suggestive α-thalassemia phenotype in eleven patients, we performed Multiplex Ligation-dependent Probe Amplification with commercial and synthetic engineered probes, gap-PCR, and Sanger sequencing to search for deletions in the subtelomeric region of chromosome 16p. Results: We have identified five distinct large deletions, two of them novel, and one indel. The deletions range from approximately 3.3 to 323 kb, and i) remove the whole α-globin cluster; or ii) remove exclusively the upstream regulatory elements leaving the α-globin genes structurally intact. The indel consists in the loss of MCS-R2 (HS-40), which is the most important distal regulatory element for the α-globin gene expression, and the insertion of 39 bp, seemingly resulting from a complex rearrangement involving two DNA segments (probably from chromosome 3q) bridging the deletion breakpoints with a CC-bp orphan sequence in between. Finally, in one patient no α-globin deletion or point mutation were found. This patient revealed to be a very unusual case of acquired alpha-thalassemia associated with a myelodysplastic syndrome. Conclusions: Our study widens the spectrum of molecular lesions by which α-thalassemia may occur and emphasizes the importance of diagnosing large α-zero-deletions to provide patients with appropriate genetic counseling.info:eu-repo/semantics/publishedVersio

School environment associates with lung function and autonomic nervous system activity in children : a cross-sectional study

Children are in contact with local environments, which may affect respiratory symptoms and allergic sensitization. We aimed to assess the effect of the environment and the walkability surrounding schools on lung function, airway inflammation and autonomic nervous system activity. Data on 701 children from 20 primary schools were analysed. Lung function, airway inflammation and pH from exhaled breath condensate were measured. Pupillometry was performed to evaluate autonomic activity. Land use composition and walkability index were quantified within a 500 m buffer zone around schools. The proportion of effects explained by the school environment was measured by mixed-effect models. We found that green school areas tended to be associated with higher lung volumes (FVC, FEV1 and FEF25-75%) compared with built areas. FVC was significantly lower in-built than in green areas. After adjustment, the school environment explained 23%, 34% and 99.9% of the school effect on FVC, FEV1, and FEF25-75%, respectively. The walkability of school neighbourhoods was negatively associated with both pupil constriction amplitude and redilatation time, explaining -16% to 18% of parasympathetic and 8% to 29% of sympathetic activity. Our findings suggest that the environment surrounding schools has an effect on the lung function of its students. This effect may be partially mediated by the autonomic nervous system.Peer reviewe

Avaliação de um sistema de cultivo de microalgas com um mix de fotobiorreatores tubular e de placas paralelas, para produção de biomassa de microalgas em meios de cultura alternativos / Evaluation of a microalgae cultivation system with a mix of tubular and parallel plate photobioreactors for microalgae biomass production in alternative culture media

As microalgas são microoarganismos fotossintetissantes mais eficases na produção de oxigênio existente no mundo, e têm sido foco de grande interesse pelos benefícios que podem oferecer ao meio ambiente devido a sua enorme capacidade de captura e utilização de dióxido de carbono (CO2) presente na atmosfera como uma das fontes de nutrientes, e  a sua conversão em  biomassa altamente rica em lipídios, pigmentos, ácidos graxos poli-insaturados, aminoácidos tipo micosporinas, ficocoloides, esteróis, aminoácidos, proteínas e carboidratos. A biomassa produzida é de grande interesse para indústria de produção de energia, alimentícia, farmacêutica e cosméticos. Muitas microalgas também atuam como eficientes biorremediadoras de resíduos domésticos e agroindustriais, de maneira que sistemas integrados de cultivo de microalgas promissoras para a produção de biocombustíveis acoplados ao tratamento de efluentes podem apresentar vários benefícios, como a redução de custos no tratamento de águas residuais com a co-produção de biomassa microalgal, reduzindo os custos com os meios de cultivo, promovendo remoção de nutrientes e minimizando impactos ambientais. Neste contexto, este trabalho teve por objetivo avaliar um sistema de cultivo em mix de fotobiorreatores tubular, compondo um sistema de 2000 litros de capacidade efetiva, construído em tubo de acrílico e tanques fechados, e a realização de estudos relacionados ao crescimento da microalga Selenastrum gracile (Clorofícea) cultivada no sistema usando meio de cultura alternativo preparado a partir de extrato de biocomposto hortifrútis. O cultivo teve a duração de 14 dias, com fase exponencial do segundo ao oitavo dia. O rendimento máximo de biomassa foi de 20 mg.L-1 para uma densidade celular máxima de 5,49 x 103 células.mL-1. Os dados da cinética de crescimento de S. gracile no fotobiorreator mostraram valores médios de 0,44 para o mMax (taxa de crescimento máximo), 0,64 para o k (duplicação celular por dia de cultivo) e 1,64 para o tg (tempo de geração), na fase exponencial. Medidas da eficiência fotossintética realizadas na fase exponencial, usando um mini-PAM mostrou excelente estado fisiológico da célula, com valor de Fv/Fm (eficiência fotossintética) acima de 0,79. Fotoinibição da fotossíntese foi observada às 13 horas do dia, em situação de luz saturante. Temperatura alta entre por volta das 13:00 as 15:00 horas também reduziram a taxa de fotossíntese. Os transientes OJIP também evidenciam uma diminuição do Fm nos horários de maior iluminação. O meio alternativo utilizado mostrou-se eficaz para o cultivo em massa dessa espécie em fotobiorreator

Association of HLA-B*41:02 with Henoch-Schönlein Purpura (IgA Vasculitis) in Spanish individuals irrespective of the HLA-DRB1 status

INTRODUCTION: A study was conducted to determine whether the human leukocyte antigen (HLA) B alleles are implicated in the susceptibility to Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies. METHODS: The study population was composed of 349 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria, and 335 sex and ethnically matched controls. HLA-B phenotypes were determined by sequencing-based typing (SBT) and analyzed by chi-square or Fisher exact test. RESULTS: A statistically significant increase of HLA-B*41:02 allele in HSP patients when compared with controls was found (8.3% versus 1.5% respectively; P = 0.0001; OR (odds ratio) =5.76 [2.15-19.3]). These results remained statistically significant after adjusting for Bonferroni correction (P = 0.0028). An internal validation also confirmed the susceptibility effect on HSP associated with HLA-B*41:02 (OR = 5.70 [1.98-16.44]). Since a former study described an association between HLA-DRB1*01:03 and HSP susceptibility, we also evaluated the implication of HLA-B*41:02 independently of HLA-DRB1*01:03. Interestingly, the association remained statistically significant (P = 0.0004, OR = 4.97 [1.8-16.9]). No HLA-B association with specific HSP clinical features was found. CONCLUSIONS: Our study indicates that HLA-B*41:02 is associated with the susceptibility to HSP in Spanish patients irrespective of HLA-DRB1 status.This study was supported by a grant from ‘Fondo de Investigaciones Sanitarias’ PI12/00193 (Spain). RLM is a recipient of a Sara Borrell postdoctoral fellowship from the Instituto de Salud Carlos III at the Spanish Ministry of Health (Spain) (CD12/00425). FG and BU are supported by funds from the RETICS Program (RIER) (RD12/0009/0013).Ye