Perceções dos professores de educação especial em relação às respostas educativas a alunos com dislexia

Dissertação de Mestrado apresentada à Universidade Fernando Pessoa como parte dos requisitos para a obtenção do grau de Mestre em Ciências da Educação: Educação Especial, área de especialização em Domínio Cognitivo e MotorA dislexia é uma das dificuldades de aprendizagem específicas com mais expressão nas nossas escolas. Neste sentido, dadas as implicações que as dificuldades advindas desta problemática têm no desenvolvimento e aprendizagem da criança, considerou-se pertinente centrar a presente investigação nesta temática. Para tal averiguou-se a perceção dos professores de Educação Especial, do distrito de Leiria, abrangidos pela Direção Regional de Educação do Centro, relativamente à eficácia dos apoios educativos prestados no âmbito da Educação Especial a alunos sinalizados com dislexia. A delimitação do estudo prendeu-se com a importância que uma intervenção eficaz assume para a melhoria das competências leitoras das crianças com dislexia. Procurou ainda contrastar as conceções dos docentes com o que a literatura tem evidenciado ser fundamental para uma adequada resposta educativa às crianças sinalizadas por dislexia. Os resultados encontrados permitem concluir que as perceções dos docentes apresentam incongruências face ao que os estudos postulam como premissas para que os apoios educativos a estes alunos sejam eficazes.Dyslexia is one of the specific learning disabilities with more expression in our schools. In this sense, aware of the implications that the difficulties arising from this issue have on the child development and learning, we considered relevant to focus our research on this topic. Therefore we investigated the perceptions of Special Education teachers, in the district of Leiria, covered by the Regional Education Center, concerning the efficacy of the educational supports provided by the Special Education for pupils referred by dyslexia. Our study aims at highlight the importance of an effective intervention for enhancing the reading skills of the dyslexic children. The contrast of teachers’ conceptions with literature review became essential for an appropriated educational response to children identified with dyslexia. Results allow us to conclude that teachers’ perceptions show several incongruence facing what the studies postulate as premises to an effective educational support for these pupils

Joyce’s heirs. Joyce’s imprint on recent global literatures

166 p.The figure of James Joyce is intangible, an almost all-encompassing figure whose height and breadth bypasses countries, continents and even time constraints and limitations. Many writers have confessed to their being indebted to his works and readings, as have many scholars over the years. However, not everything said about Joyce has always been praising; his contemporary D.H. Lawrence is known to have criticised him on the basis of his Biblical references or his journalistic-indebted narrative, which he defined as “old and hard-worked staleness, masquerading as the all-new”. Many more writers have, however, found inspiration in Joyce’s narratives and stories than not. Admirers and detractors aside, it is clear that Joyce’s figure is larger than life. Almost as a reversed parallelism to D.H. Lawrence’s criticism, Joyce can be pronounced a figure of almost Biblical proportions. One may like him or despise him; however, no one is left indifferent by it. This lofty, academic assertion has its more mundane mirror image in the widespread myth that all Dubliners, upon entering a conversation of literary dimensions, will firmly state their own opinions on the Dubliner’s work, even discuss some of his passages, only to later acknowledge (perhaps in the intimacy of one of those public houses Joyce himself so well depicted) that they have not read the book at all. This, rather than taking away literary value form Joyce’s work, proves how all-encompassing and ever-arching his work can be. Discussed alike by highranking academics and Dublin taxi drivers, Joyce’s oeuvre is an ever-continuing metaphor of life and its essence at the core of the city which he left but always inhabited

Joyce’s heirs. Joyce’s imprint on recent global literatures

166 p.The figure of James Joyce is intangible, an almost all-encompassing figure whose height and breadth bypasses countries, continents and even time constraints and limitations. Many writers have confessed to their being indebted to his works and readings, as have many scholars over the years. However, not everything said about Joyce has always been praising; his contemporary D.H. Lawrence is known to have criticised him on the basis of his Biblical references or his journalistic-indebted narrative, which he defined as “old and hard-worked staleness, masquerading as the all-new”. Many more writers have, however, found inspiration in Joyce’s narratives and stories than not. Admirers and detractors aside, it is clear that Joyce’s figure is larger than life. Almost as a reversed parallelism to D.H. Lawrence’s criticism, Joyce can be pronounced a figure of almost Biblical proportions. One may like him or despise him; however, no one is left indifferent by it. This lofty, academic assertion has its more mundane mirror image in the widespread myth that all Dubliners, upon entering a conversation of literary dimensions, will firmly state their own opinions on the Dubliner’s work, even discuss some of his passages, only to later acknowledge (perhaps in the intimacy of one of those public houses Joyce himself so well depicted) that they have not read the book at all. This, rather than taking away literary value form Joyce’s work, proves how all-encompassing and ever-arching his work can be. Discussed alike by highranking academics and Dublin taxi drivers, Joyce’s oeuvre is an ever-continuing metaphor of life and its essence at the core of the city which he left but always inhabited

Goat milk free fatty acids characterization during pasteurization and ohmic heating by solid-phase microextraction-gas chromatography

Milking procedures and mechanical treatments during processing may affect physical and chemical components of milk leading to undesirable changes on the quality of dairy products. The appearance of rancid flavors in milk is frequently associated with the release of free fatty acids (FFA) resulting from triglyceride degradation of milk fat. Recent research suggests that the high shear stresses imposed on milk during stirring, pumping and heat treatment may cause damage to the membrane that protects the milk fat globule from the action of lipases. Disruption of this membrane facilitates the hydrolysis of triglycerides, which could lead to an excessive accumulation of FFA in milk. Solid-phase microextraction (SPME) is an economical and solvent free extraction technique that allows the concentration on a silica support coated with a stationary phase of polar, non-polar, volatile and semi-volatile organic analytes from both solid and aqueous food matrices. Previous studies reported that in association with gas chromatography techniques, SPME had been shown to be a useful tool in quantification of individual FFA in dairy products providing enough sensitivity to detect levels of rancidity in milk. The aim of this study is to evaluate the effects of pumping systems (screw and centrifugal pump) and heating units (plate-and-frame heat exchanger and ohmic heater) on the FFA profile (C4 - C10) of milk fat, through the utilization of a combination of SPME and gas chromatography. Results have shown that the quantity of FFA extracted from goat milk by SPME tends to increase with the use of plate-and-frame heat exchanger as compared to raw milk and to ohmic treated milk. Moreover, it was observed that the goat milk pasteurized by ohmic heating, using high temperature short time method, has presented lower content of FFA during refrigerated storage, when compared with goat milk pasteurized by plate and frame heat exchanger.info:eu-repo/semantics/publishedVersio

Analysis of first-line treatment in older patients with metastasic colorectal cancer

Objective: The purpose of this study was to analyse the effectiveness and safety of first-line treatment of metastatic colorectal cancer (CRCm) in older patients treated in a tertiary hospital. Material and methods: This was an observational and retrospective study, including patients aged 75 years or older, with CRCm, who received chemotherapy treatment in 2017. The main variables studied were type of treatment, Progression-Free Survival (PFS), Overall Survival (OS), dose reductions, and treatment delays due to adverse events. Results: A total of 59 patients (71.2% men) with a median age of 76 years were enrolled in this study. About 70% presented colon cancer, with the left colon being the most frequent location. They were treated with 9 different schemes, in most cases using polychemotherapy and biological agents. The median PFS and OS was 12 and 30 months, respectively. A total of 23/59 of patients started treatment at doses lower than recommended in the clinical practice guidelines. In terms of safety, 34/59 of patients had at least one dose reduction, and 30/59 suffered one treatment delay. The most frequent adverse reactions were asthenia, peripheral neuropathy, diarrhoea, and palmoplantar erythrodysesthesia. Conclusion: Our patients presented baseline clinical characteristics similar to the general adult population, with no tumour characteristics associated with advanced age. The efficacy and toxicity were similar to those in the clinical trials, although our patients had more dose reductions. Considering the heterogeneity of patients and in the absence of clinical trials in the older population, real-life studies can be very useful

ESCALA DE AVALIAÇÃO DOS AMBIENTES DA PRÁTICA PROFISSIONAL DE ENFERMAGEM: CONSTRUÇÃO E VALIDAÇÃO DE CONTEÚDO

Objetivo: construir e validar o conteúdo da Escala de Avaliação dos Ambientes da Prática Profissional de Enfermagem. Método: estudo metodológico realizado de janeiro a maio de 2020. A construção da Escala foi antecedida de pesquisa qualitativa prévia e de revisão de literatura. A validação de conteúdo foi efetuada por 22 peritos. Resultados: inicialmente a Escala tinha 128 itens agrupados nas dimensões estrutura, processo e resultado. Decorrente da avaliação dos peritos, na estrutura dos 65 itens iniciais, foram excluídos 20, reformulados 10 e adicionado um. No processo, dos 49 itens iniciais, excluíram-se 8 e reformularam-se 2. No resultado, dos 14 itens iniciais, foram excluídos 2, reformulados 2 e adicionado 1. A versão final ficou com 100 itens, cujo Índice de Validade de Conteúdo de cada item oscilou entre 0,86 e 1. Conclusão: a construção e posterior validação dos itens pelos peritos foi uma etapa fundamental, dando segurança à continuidade dos procedimentos psicométricos.Descritores: Estudos de Validação. Ambiente de Trabalho. Prática Profissional. Enfermagem. Garantia da Qualidade dos Cuidados de Saúde

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01–0145-FEDER-007274). AML is funded by the Portuguese Government through FCT (IF/01262/2014). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba received support from Instituto de Salud Carlos III (grant DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe), and from “Generalitat de Catalunya” (grant 2017SGR191). SLarriba is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORaddrs2287839 = 1.85 (1.17–2.93), ORaddrs2233678 = 1.62 (1.11–2.36), ORaddrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.publishersversionpublishe

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.

We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORrs2287839 = 1.85 (1.17–2.93), ORrs2233678 = 1.62 (1.11–2.36), ORrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018–038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01–0145-FEDER-007274). AML is funded by the Portuguese Government through FCT (IF/01262/2014). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba received support from Instituto de Salud Carlos III (grant DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe), and from “Generalitat de Catalunya” (grant 2017SGR191). SLarriba is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”)

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF.Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants.Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33-02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis.Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Lisbon clinical group co-authors and IVIRMA group co-authors Ana Aguiar, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal), and Sónia Correia (Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal); Maria Graça Pinto(Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal). Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina González, (IVIRMA Sevilla, Spain); Susana Gómez, (IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain); Fernando Quintana, (IVIRMA Bilbao, Spain).Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants. Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33–02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.This work was supported by the Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation (PID 2020-120157RB-I00) and the Andalusian Government through the research projects of “Plan Andaluz de Investigacion, Desarrollo e Innovacion (PAIDI 2020)” (ref. PY20_00212) and “Programa Operativo FEDER 2020” (ref. B-CTS-584-UGR20). LB-C was supported by the Spanish Ministry of Science and Innovation through the “Juan de la Cierva Incorporacion” program (Grant ref. IJC 2018-038026- I, funded by MCIN/AEI/10.13039/501100011033), which includes FEDER funds. AG-J was funded by MCIN/AEI/ 10.13039/501100011033 and FSE “El FSE invierte en tu futuro” (grant ref. FPU20/02926). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01-0145-FEDER-007274). PM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (UID/BIM/00009/2016 and UIDB/00009/2020). SL received support from Instituto de Salud Carlos III (grant: DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from “Generalitat de Catalunya” (grant 2017SGR191). SL is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of AG-J.info:eu-repo/semantics/publishedVersio