Molecular diagnosis of haemophilia A: four novel variants identified in five patients

Aims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (predominantly into joins, muscles and inner organs). The severity of HMA ranges from mild (5-30% activity) to moderate (2-5% activity) to severe (<1% activity). During the last five years, we have found four novel variants identified in five index patients with no family history of HMA. Three frameshift variants were detected in patients presenting severe HMA and one missense variant was identified in two unrelated patients with a mild phenotype. Methods: Analysis of the F8 gene was performed in five index patients using PCR followed by Sanger sequencing, after F8 IVS22 and IVS1 inversions being excluded in severe HMA cases. Bioinformatics analysis was performed with several pathogenicity prediction tools (Alamut Visual, VarSome, VEP and Human Splicing Finder). Results and Conclusions: In the three patients with severe HMA, three different novel F8 variants were identified: c.1060_1061delCT, p.(Leu354Thrfs*5), c.4804delC, p.(Gln602Lysfs*19) and c.3561dupT, p.(Pro1188Serfs*10). All these variants create a frameshift, leading to a premature termination codon and presumably resulting in non-functional truncated proteins, confirming the patient’s phenotypes. The novel F8 missense variant c.5836G>T, p.(Asp1946Tyr) was identified in two unrelated patients, both with mild HMA. The Asp1946 is a highly conserved amino acid in the FVIII protein. Additionally, physicochemical properties between Asp and Tyr are significantly different, and in silico analysis classified it as pathogenic due to the amino acid substitution. Normal mRNA splicing process can also be disturbed due to the creation of a new donor splice site. RNA studies and other functional assays are essential in order to establish this variant clinical significance. Identification of novel pathogenic F8 variants in HMA patients allows genotype-phenotype correlations, appropriate genetic counseling and new knowledge about the molecular bases of this pathology.info:eu-repo/semantics/publishedVersio

O potencial das redes sociais para o desenvolvimento profissional dos docentes

A educação na sociedade do conhecimento é indissociável das Tecnologias de Informação e Comunicação (TIC), tanto como elemento mediador como potenciador das aprendizagens. A Web 2.0, entendida como web social, surge como uma ferramenta de potenciação do acesso à informação, facultando aos docentes a oportunidade de desenvolver os seus conhecimentos e competências, construindo situações inovadoras de educação no seu percurso profissional, apoiados em modelos de formação formal ou informal. Do conjunto de dois estudos complementares em curso resultará um trabalho sobre o papel das redes sociais, como contexto de aprendizagem informal, nas vertentes da construção de competências TIC e do desenvolvimento profissional de professores do ensino não superior. É também objectivo desta investigação conjunta implementar uma rede social onde se procurará criar uma base sustentada de formação profissional informal de professores que englobe os Países Africanos de Língua Oficial Portuguesa

Sulfide oxidation by heterotrophic P. Koreensis A9 under aerobic conditions

info:eu-repo/semantics/publishedVersio

O papel dos stakeholders no ensino superior: experiências e desafios na promoção do empreendedorismo

Nos últimos anos as instituições de ensino superior têm diversificado as suas estratégias de promoção de uma cultura empreendedora entre os seus alunos e diplomados, não só através da dinamização de aprendizagens formais, mas também de aprendizagens de cariz não formal e informal. Relativamente às aprendizagens de cariz informal e não formal é possível identificar um conjunto variado de atividades com vista a promoção do empreendedorismo, designadamente atividades de sensibilização, atividades de formação específicas de desenvolvimento de competências, bem como atividades com vista a mentorização e o acompanhamento de novos projetos e ideias empreendedoras. Estas atividades são desenvolvidas por um conjunto diversificado de entidades ligadas ao sistema de ensino superior, como clubes de empreendedorismo dinamizados por estudantes, gabinetes de promoção do empreendedorismo, incubadoras, entre outros atores-chave que poderão ter um papel motor na construção de um ecossistema favorável à cultura empreendedora entre os jovens qualificados. Considera-se que o sucesso destas aprendizagens empreendedoras encontra-se ancorado ao estabelecimento de parcerias concertadas entre instituições de ensino superior, governo e mercado. A partir do projeto em curso “Aprendizagens empreendedoras, cooperação e mercado de trabalho: boas práticas no ensino superior” (POAT-FSE), doravante designado de Link.EES, pretende-se apresentar os principais resultados decorrentes dos avanços da pesquisa empírica realizada, em particular do inquérito por questionário aplicado a uma amostra diversificada de entidades do ensino superior dinamizadoras de atividades de promoção do empreendedorismo de âmbito não formal e informal, bem como contribuir para uma reflexão mais ampla sobre as dinâmicas colaborativas entre os diferentes atores chave do ensino superior português empenhados na promoção deste tipo de aprendizagens empreendedoras, designadamente no que se refere às perceções dos atores sobre as principais vantagens e obstáculos inerentes a este tipo de dinâmicas

ESTADO NUTRICIONAL PRÉ-OPERATÓRIO E COMPLICAÇÕES CIRÚRGICAS EM DOENTES COM CANCRO DIGESTIVO E DA CABEÇA E PESCOÇO

Introduction: Malnutrition is present in 40-50% of surgical patients upon hospital admission and is one of the most important factors influencing post-surgical morbidity and mortality. It is important to establish routines to identify and monitor patients at nutritional risk nutritional, to start early nutritional therapy, ideally in the pre-surgical phase. The aim of this study was to evaluate the association between pre-surgical nutritional status and postoperative complications and assess the nutritional assessment tool with the best prognostic value for post-surgical complications, in patients referred to surveillance in intermediate and intensive care units during surgical planning. Methods: We recruited patients at the Digestive Pathology and Head and Neck Units, referred for surgery and signaled at the anesthesia consultation for post-surgical surveillance in Intermediate or Intensive Care, from August to December 2016, at the Portuguese Institute of Oncology of Porto, Francisco Gentil, EPE. Clinical and demographic data were collected from the clinical process of the patients. Risk and nutritional status assessment was performed in the first 24 hours of patient’s admission to hospital using the PG-SGA and NRI. Data analysis was performed using the SPSS 23.0 statistical program. Results: We included 97 patients, 62 with digestive malignancies and 35 with head and neck malignant tumors. The prevalence of pre-surgical malnutrition was 51.2% and 33%, as assessed by NRI and PG-SGA, respectively. Nutritional status, as assessed by NRI was associated with postoperative complications and length of hospital stay. Nutritional status and lack of nutritional support were also associated with greater odds of prolonged hospitalizations (&gt;10 days). Conclusion: The odds of developing post-surgical complications was about 3 times higher if the patient is malnourished or at risk of malnutrition, as assessed by NRI.Introdução: A desnutrição está presente em 40-50% dos doentes cirúrgicos no momento da admissão hospitalar, sendo considerada um dos fatores que mais influencia a morbimortalidade pós-cirúrgica. É importante estabelecer rotinas para identificar e monitorizar os doentes em risco nutricional, para iniciar a terapia nutricional precocemente, idealmente na fase pré-cirúrgica. O objetivo do presente trabalho foi avaliar a associação entre estado nutricional pré-cirúrgico e as complicações pós-cirúrgicas e verificar qual o instrumento de avaliação nutricional com melhor valor prognóstico para complicações pós-cirúrgicas, em doentes encaminhados para vigilância para as unidades de cuidados intermédios e intensivos durante o planeamento cirúrgico. Métodos: Foram recrutados doentes nas Unidades de Patologia Digestiva e de Cabeça e Pescoço, que tinham sido encaminhados para cirurgia e sinalizados na consulta de anestesia para vigilância pós-cirúrgica em Terapia Intermediária ou Intensiva, de agosto a dezembro de 2016, no Instituto Português de Oncologia do Porto, Francisco Gentil, EPE. Dados clínicos e demográficos foram recolhidos através de consulta ao processo clínico. A avaliação do risco e do estado nutricional foi realizada através do PG-SGA e do NRI, nas primeiras 24 horas da admissão do doente para internamento hospitalar. A análise dos dados foi realizada através do programa estatístico SPSS 23.0. Resultados: Foram incluídos 97 doentes, 62 com neoplasias digestivas e 35 com neoplasias malignas de cabeça e pescoço. A prevalência de desnutrição pré-cirúrgica avaliada foi de 51,2% e 33%, avaliada pelo NRI e PG-SGA, respetivamente. O estado nutricional, avaliado pelo NRI, foi associado a complicações pós-operatórias e maior tempo de hospitalização. O estado nutricional e a falta de suporte nutricional também foram associados a maior risco de hospitalização prolongada (&gt; 10 dias). Conclusão: O risco de desenvolver complicações pós-cirúrgicas foi cerca de 3 vezes maior em doentes desnutridos ou em risco de desnutrição avaliados pelo NRI

Free associate norms for 139 European Portuguese words for children from different age groups

The present study presents normative ratings of free association for 139 European Portuguese (EP) words for 8-, 10- and 12-year-old children attending the 3rd, 5th and 7th grades of elementary and middle school in Portugal. For each word, five indices are presented: a) the percentage of associates, b) the strength of the first associate, c) the strength of the second associate, d) the distance between the first and the second associates and e) the percentage of idiosyncratic responses. Additionally, grade-level frequency values for each word from the ESCOLEX database (Soares et al., in press) are also provided. As expected, the results revealed developmental changes in the knowledge organization of children, ocurring at the age of 9-10 (5th grade) and remaining stable in 11-12 year-old children (7th grade). Specifically, we observed a decrease in the percentage of associates and idiosyncratic responses as well as an increase in the strength of the first and the second associate from the 3rd grade to the 5th grade. Moreover, the comparative analysis with the previous work of Carneiro, Albuquerque, Fernandes, & Esteves (2004) on EP and Macizo, Gómez-Ariza, & Bajo (2000) on Spanish for a subset of common words (16 and 58, respectively) shows that the present norms fit well with previous EP data but differ from Spanish data. The normative values can be downloaded at http://p-pal.di.uminho.pt/about/databases or at http://brm.psychonomic-journals.org/content/supplemental.This work is part of the research projects “Bilingual semantic processing: a study with cognate words by using different learning methods” (PTDC/PSI-PCO/104671/2008) and “Procura-PALavras (P-PAL): A software program for deriving objective and subjective psycholinguistic indices for European Portuguese words” (PTDC/PSI-PCO/104679/2008), funded by the Fundação para a Ciência e Tecnologia (FCT) and by Fundo Europeu de Desenvolvimento Regional (FEDER) through the European programs Quadro de Referência Estratégico Nacional (QREN) and Programa Operacional Factores de Competitividade (COMPETE). The authors thank Pedro Macizo for allowing us to use their normative data for 58 Spanish words with the purpose of comparison with the EP data. We also thank Isabel Padrón and Álvaro Iriarte for helping us with the classification of children’s responses as a function of syntagmatic–paradigmatic typology

Development of skills in children with ASD using a robotic platform

The interaction and communication skills are essential to live in society. However, individuals with autism spectrum disorders (ASD) have a gap in these abilities which affects their daily life. Previous studies suggest that children with ASD demonstrate some positive behaviors in presence of a robotic platform. This study intends to evaluate the effect of a robotic platform on children with ASD, checking if the platform can be a stimulating agent for children's interaction, as well as a skill learning promoter. So, it is used the robot Lego Mindstorms NXT as a mediator/reward to encourage children with ASD to interact with others and also to learn some cognitive skills.The authors are grateful to teachers and students of the primary and secondary schools of Aver-o-Mar and their parents for their participation in the project. The authors are also grateful to the Portuguese Foundation for funding through the R&D project RIPD/ADA/109407/2009

Comparison between Four Landraces and a Commercial Variety

Funding Information: Funding: This research was funded by Fundação para a Ciência e a Tecnologia (FCT) and FEDER through ALT20-03-0145-FEDER-029867. Funding Information: This research was funded by Funda??o para a Ci?ncia e a Tecnologia (FCT) and FEDER through ALT20-03-0145-FEDER-029867. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.Cowpea (Vigna unguiculata) is a robust legume; nevertheless, yield is always affected by drought, especially when it occurs during reproductive growth and seed filling. Considered a key crop in the effort to attain food security, and a suitable crop for a scenario of climate change, modern disregard for cowpea landraces is particularly detrimental as it causes genetic variability loss, compromising breeding efforts. To contribute to the evaluation of the cowpea germplasm, four Portuguese landraces (L1, L2, L3, L4) were compared with a commercial variety (CV) to evaluate their physiological responses to terminal drought and their inter-variation on productivity, under semi-controlled conditions. Despite no differences in relative water content (RWC) between the CV and the landraces under water deficit (WD), differences in leaf water potential (Ψ) defined the CV as having an isohydric control of stomata in contrast with anisohydric control for landraces. There was an identical decrease in the photosynthetic rate for all plants under stress, caused by both stomatal and non-stomatal limitations, namely, damages at the level of photosystem II as indicated by fluorescence measurements. Instantaneous water use efficiency (iWUE) was improved with stress in L1 and L3. Maintenance of higher relative chlorophyll content for longer periods in the CV revealed a stay-green phenotype. The slim differences observed in terms of stomatal control, iWUE and progression of senescence between the CV and the landraces under WD led to quite important differences in terms of productivity, as inferred from improved yield (number of pods and number of grains per plant). This is a clear result of pragmatic on-farm selection. On one hand it shows that small differences in stomatal responses or water saving strategies under WD may lead to desirable outcomes and should therefore be considered during breeding. On the other hand, it suggests that other traits could be explored in view of drought adaptation. These results highlight the need to preserve and characterize as many genetic pools as possible within a species.publishersversionpublishe

Intake of milk, but not total dairy, yogurt, or cheese, is negatively associated with the clustering of cardiometabolic risk factors in adolescents

Abstract Epidemiologic studies have reported an inverse association between dairy product consumption and cardiometabolic risk factors in adults, but this relation is relatively unexplored in adolescents. We hypothesized that a higher dairy product intake is associated with lower cardiometabolic risk factor clustering in adolescents. To test this hypothesis, a cross-sectional study was conducted with 494 adolescents aged 15 to 18 years from the Azorean Archipelago, Portugal. We measured fasting glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, triglycerides, systolic blood pressure, body fat, and cardiorespiratory fitness. We also calculated homeostatic model assessment and total cholesterol/high-density lipoprotein cholesterol ratio. For each one of these variables, a z score was computed using age and sex. A cardiometabolic risk score (CMRS) was constructed by summing up the z scores of all individual risk factors. High risk was considered to exist when an individual had at least 1 SD from this score. Diet was evaluated using a food frequency questionnaire, and the intake of total dairy (included milk, yogurt, and cheese), milk, yogurt, and cheese was categorized as low (equal to or below the median of the total sample) or &quot;appropriate&quot; (above the median of the total sample).The association between dairy product intake and CMRS was evaluated using separate logistic regression, and the results were adjusted for confounders. Adolescents with high milk intake had lower CMRS, compared with those with low intake (10.6% vs 18.1%, P = .018). Adolescents with appropriate milk intake were less likely to have high CMRS than those with low milk intake (odds ratio, 0.531; 95% confidence interval, 0.302-0.931). No association was found between CMRS and total dairy, yogurt, and cheese intake. Only milk intake seems to be inversely related to CMRS in adolescents

Studies on Hydrogen Sulfide Oxidase from Pseudomonas sp.

Agency of Innovation (Agência de Inovação, ADI, Portugal) and Quadro de Referência Estratégico Nacional (QREN, Portugal