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A 19 de janeiro de 1919, tropas revoltosas proclamaram, no Porto, a reinstituição da Monarquia, logo seguidas por outras guarnições do norte de Portugal. O domínio monárquico em quase todo o norte do país, em particular do Porto, não teve equivalente a sul. A confrontação que se seguiu entre os revoltosos monárquicos e os republicanos levou ao fim da Monarquia do Norte a 13 de fevereiro. A investigação que aqui se apresenta visou desvelar, por meio de um estudo quantiqualitativo, a estrutura do discurso iconográfico que a Ilustração Portuguesa, única revista ilustrada coeva de grande circulação, construiu sobre esse episódio. Partiu-se da hipótese de que o discurso da Ilustração Portuguesa se alinhou com o poder governamental republicano, que controlava a capital, sede da revista e a maioria do território do país. Os dados permitiram validar a hipótese. A narrativa iconográfica da revista glorifica a República e os seus “heróis”, transformando a publicação num instrumento de “infopropaganda” ao serviço do poder estabelecido em Lisboa.

Na sequência da proclamação da Monarquia, no Porto, também monárquicos de Lisboa levaram a cabo uma intentona destinada a reinstituir a Monarquia na capital e no resto do país, no dia 22 de janeiro de 1919. Ficou conhecida por Revolta de Monsanto. O assalto às posições monárquicas por forças republicanas ditou o malogro da revolta e, indiretamente, ocasionou o fracasso da proclamação da Monarquia a norte. A investigação que aqui se apresenta visou desvelar, por meio de um estudo quantiqualitativo, a estrutura do discurso iconográfico que a Ilustração Portuguesa, única revista ilustrada coeva de grande circulação, construiu sobre esse episódio histórico. Partiu-se da hipótese de que o discurso da Ilustração Portuguesa se alinhou com o poder republicano, hipótese aceite, já que a publicação revestiu o triunfo republicano de uma dose de epopeia e valorizou os “bravos” e “mártires” da República.

Introduction: According to data from the Portuguese Society of Nephrology, in Portugal on December 31 of 2018, 12,227 patients underwent hemodialysis treatment (HD). Patients with chronic kidney disease (CKD) on dialysis present physical and psychological limitations that induce to a sedentary life stile. They have a higher risk of mortality due to reduced functional capacity and loss of muscle strength when compared to individuals of the same age. Scientific evidence points to the implementation of regular exercise programs as supporting treatment for these individuals. Objectives: Gather and characterize the existing scientific evidence of the benefits of intradialitic physical exercise (IFE), which supports the future implementation of an IFE program in a hemodialysis center. Method: The research was carried out in the EBSCOhost databases, in April and May 2020, having initially obtained a total of 2,602 scientific productions. Were selected for final analysis 19 studies, 2 quasi-experimental studies and 17 randomized controlled studies, which met the inclusion criteria. Results: The analysis of the scientific evidence guides to 3 intradialitic intervention categories: aerobic physical exercise, resistance physical exercise and combined physical exercise (aerobic and resistance). All exercise programs have benefits in one or more parameters: hemodialysis effectiveness; functional physical capacity; depression; quality of life; muscle strength; cardiovascular changes; daily physical activity; sleep; balance and restless legs syndrome. Conclusion: The literature founded, allows us to conclude that IFE programs are simple and inexpensive to implement, have several benefits for hemodialysis patients without prejudice to the dialysis efficacy.

Diseases of neurodevelopment mostly exhibit neurological and psychiatric symptoms that go from very mild to extremely severe. While the etiology of most cases of neurodevelopmental disease is still unknown, the discovery of underlying genetic causes is rapidly increasing, with hundreds of genes being currently implicated as disease-causing. Here, we report a clinical case of a patient with a previously undiagnosed syndrome comprising severe global developmental delay, intellectual disability, and behavioral disorders (such as attention-deficit/hyperactivity disorder, autism spectrum disorder and recurrent bouts of aggressive behavior). After genetic testing, a pathogenic variant was detected in the GNB1 gene, which codes for the G-protein subunit β1. The detected variant (c.217G>A, p.A73T) has not been previously reported in any of the 58 published cases of GNB1 encephalopathy. However, it localizes to the mutational hotspot in exons 6 and 7 in which 88% of all missense mutations occur. An in silico model predicts that this mutation is likely to disrupt the WD40 domain of the GNB1 protein, which is required for its interaction with other G-proteins and, consequently, for downstream signal transduction. In conclusion, we reported an additional GNB1 encephalopathy patient, bearing a novel mutation, taking another step toward a better understanding of its clinical presentation and prospective development of treatments for the disease.

Abstract Background High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.

O regime de Sidónio Pais promoveu uma encenação pública do poder centrada no chefe. Ao tempo, o fotojornalismo era já uma prática consolidada, ganhando expressão na Ilustração Portuguesa, única revista ilustrada de informação geral que circulava em Portugal. De que maneira o discurso fotográfico refletiu, cronologicamente, a marcha do tempo e a coreografia do poder orquestrada pelo Sidonismo e como é que isto se entrelaçou com, ou afetou, os princípios da noticiabilidade e os critérios de valor-notícia? Esta investigação procura responder à questão, recorrendo a uma análise do discurso qualitativa das manifestações fotográficas do Sidonismo na referida revista. Concluiu-se que o discurso fotográfico da Ilustração Portuguesa alimentou o mito de Sidónio Pais, afetando o imaginário e a memória histórica, e que os critérios de noticiabilidade foram influenciados de maneira a acomodar o discurso mediático à situação política. A notoriedade da personagem sobrepôs-se a outros valores-notícia.

Transboundary conservation has an important, yet often undervalued, role in the international conservation regime. When applied to the legally ambiguous and interconnected marine environment this is magnified. The lack of clear guidance for transboundary marine conservation from the international conservation community exacerbates this problem, leaving individual initiatives to develop their own governance arrangements. Yet, well-managed transboundary marine protected areas (MPAs) have the potential to contribute significantly to global conservation aims. Conversely, in a period where there is increasing interest in marine resources and space from all sectors, the designation of MPAs can create or amplify a regional conflict. In some instances, states have used MPAs to extend rights over disputed marine resources, restrict the freedom of others and establish sovereignty over maritime space. Six case studies were taken from Europe, North Africa and the Middle East to illustrate how states have interpreted and utilized different legislative mechanisms to either come together or diverge over the governance of marine resources or maritime space. Each of the case studies illustrates how different actors have used the same legislative tools, but with different interpretations and applications, to justify their claims. It is clear that the role of science combined with a deeper engagement with stakeholders can play a critical role in tempering conflict between states. Where states are willing to cooperate, the absence of clear guidelines at the global level means that often ad hoc measures are put into place, with the international frameworks then playing catch up. Balancing different jurisdictional claims with the conservation of the marine environment, whilst considering the increasing special economic interests will become increasingly difficult. Developing a transboundary conservation tool, such as the simple conservation caveats found in the Barcelona Convention and Antarctic Convention, which allow for the establishment of intergovernmental cooperation without prejudicing any outstanding jurisdictional issue, would provide a framework for the development of individual transboundary MPAs.

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.

Este artigo nasce da investigação “A Fotografia Documental na Imprensa Nacional: o Real e o Verosímil”, um estudo desenvolvido em 2014, na Universidade Nova de Lisboa-FCSH (Faculdade de Ciência Sociais e Humanas), que pretendeu perceber a essência da fotografia de imprensa portuguesa através das representações que os fotógrafos traçam da fotografia, do ato fotográfico e do jornalismo. Num universo português de pouco mais de 200 profissionais exclusivamente de informação generalista, com uma amostra de 90 entrevistas, concluiu-se que a fotografia de imprensa é a perspetiva do fotógrafo sobre o real e aproxima-se muito mais da verosimilhança do que do real.

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (

The peptide derived from E. contortisiliquum trypsin inhibitor (Pep-3-EcTI), peptide derived from kallikrein inhibitor isolated from B. bauhinioides (Pep-BbKI), and B. rufa peptide modified from B. bauhinioides (Pep-BrTI) peptides exhibit anti-inflammatory and antioxidant activities, suggesting their potential for treating asthma--chronic obstructive pulmonary disease (COPD) overlap (ACO). We compared the effects of these peptides with dexamethasone (DX) treatment in an ACO model. In this study, 11 groups of male BALB/c mice were pre-treated under different conditions, including sensitization with intraperitoneal injection and inhalation of ovalbumin (OVA), intratracheal instillation of porcine pancreatic elastase (ELA), sensitization with intraperitoneal injection, and various combinations of peptide treatments with Pep-3-EcTI, Pep-BbKI, Pep-BrTI, dexamethasone, and non-treated controls (SAL-saline). Respiratory system resistance, airway resistance, lung tissue resistance, exhaled nitric oxide, linear mean intercept, immune cell counts in the bronchoalveolar lavage fluid, cytokine expression, extracellular matrix remodeling, and oxidative stress in the airways and alveolar septa were evaluated on day 28. Results showed increased respiratory parameters, inflammatory markers, and tissue remodeling in the ACO group compared to controls. Treatment with the peptides or DX attenuated or reversed these responses, with the peptides showing effectiveness in controlling hyperresponsiveness, inflammation, remodeling, and oxidative stress markers. These peptides demonstrated an efficacy comparable to that of corticosteroids in the ACO model. However, this study highlights the need for further research to assess their safety, mechanisms of action, and potential translation to clinical studies before considering these peptides for human use. [ABSTRACT FROM AUTHOR]