RCAAP Repository

The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction. However, classical UMN signs are frequently difficult to identify in ALS. LMN involvement is sensitively detected by electromyography (EMG), but, as yet, there are no generally accepted markers for monitoring UMN abnormalities, the neurobiology of ALS itself and disease spread through the brain and the spinal cord.

One Gram-stain-positive, non-motile, non-spore-forming, catalase-negative, and coccobacilli-shaped strain, designated c10Ua161MT, was isolated from a urine sample from a reproductive-age healthy woman. Comparative 16S rRNA gene sequence analysis indicated that strain c10Ua161MT belonged to the genus Lactobacillus. Phylogenetic analysis based on pheS and rpoA gene sequences strongly supported a clade encompassing strains c10Ua161MT and eight other strains from public databases, distinct from currently recognized species of the genus Lactobacillus. In silico Average Nucleotide Identity (ANI) and Genome-to-Genome Distance Calculator (GGDC), showed 87.9 and 34.3 % identity to the closest relative Lactobacillus jensenii, respectively. The major fatty acids of strain c10Ua161MT were C18 : 1ω9c (65.0%), C16 : 0 (17.8%), and summed feature 8 (10.2 %; comprising C18 : 1ω7c, and/or C18 : 1ω6c). The DNA G+C content of the strains is 34.2 mol%. On the basis of data presented here, strain c10Ua161MT represents a novel species of the genus Lactobacillus, for which the name Lactobacillus mulieris sp. nov. is proposed. The type strain is c10Ua161MT (=CECT 9755T=DSM 108704T).

Background: There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, a known pathological process of FTD, but has yet to be explored as potential biomarker. Methods: Plasma GFAP and neurofilament light chain (NfL) concentration were measured in 469 individuals enrolled in the Genetic FTD Initiative: 114 C9orf72 expansion carriers (74 presymptomatic, 40 symptomatic), 119 GRN mutation carriers (88 presymptomatic, 31 symptomatic), 53 MAPT mutation carriers (34 presymptomatic, 19 symptomatic) and 183 non-carrier controls. Biomarker measures were compared between groups using linear regression models adjusted for age and sex with family membership included as random effect. Participants underwent standardised clinical assessments including the Mini-Mental State Examination (MMSE), Frontotemporal Lobar Degeneration-Clinical Dementia Rating scale and MRI. Spearman's correlation coefficient was used to investigate the relationship of plasma GFAP to clinical and imaging measures. Results: Plasma GFAP concentration was significantly increased in symptomatic GRN mutation carriers (adjusted mean difference from controls 192.3 pg/mL, 95% CI 126.5 to 445.6), but not in those with C9orf72 expansions (9.0, -61.3 to 54.6), MAPT mutations (12.7, -33.3 to 90.4) or the presymptomatic groups. GFAP concentration was significantly positively correlated with age in both controls and the majority of the disease groups, as well as with NfL concentration. In the presymptomatic period, higher GFAP concentrations were correlated with a lower cognitive score (MMSE) and lower brain volume, while in the symptomatic period, higher concentrations were associated with faster rates of atrophy in the temporal lobe. Conclusions: Raised GFAP concentrations appear to be unique to GRN-related FTD, with levels potentially increasing just prior to symptom onset, suggesting that GFAP may be an important marker of proximity to onset, and helpful for forthcoming therapeutic prevention trials.

Centrosome amplification (CA) is a common feature of human tumours and a promising target for cancer therapy. However, CA's pan-cancer prevalence, molecular role in tumourigenesis and therapeutic value in the clinical setting are still largely unexplored. Here, we used a transcriptomic signature (CA20) to characterise the landscape of CA-associated gene expression in 9,721 tumours from The Cancer Genome Atlas (TCGA). CA20 is upregulated in cancer and associated with distinct clinical and molecular features of breast cancer, consistently with our experimental CA quantification in patient samples. Moreover, we show that CA20 upregulation is positively associated with genomic instability, alteration of specific chromosomal arms and C>T mutations, and we propose novel molecular players associated with CA in cancer. Finally, high CA20 is associated with poor prognosis and, by integrating drug sensitivity with drug perturbation profiles in cell lines, we identify candidate compounds for selectively targeting cancer cells exhibiting transcriptomic evidence for CA.

Com o crescimento do trabalho temporário que se tem vindo a verificar no sector de prestação de serviços em Portugal, e devido a elevada taxa de turnover que caracteriza a área dos Call Centers, tornou-se imperativa a necessidade de efectuar mais estudos nesta área de forma a compreender as especificidades deste sector. O presente estudo pretende explorar o efeito da qualidade das trocas estabelecidas com o superior hierárquico directo (LMX- Leader-Member Exchange) e da percepção da natureza das trocas estabelecidas com a organização (conteúdo do contrato psicológico) na implicação afectiva dos trabalhadores temporários de Call Center, tendo como base conceptual a Teoria da Troca Social (Blau, 1964) e a Teoria da Reciprocidade (Gouldner, 1960). Foi utilizada uma amostra portuguesa de 529 trabalhadores temporários de Call Center, a prestar serviços nas instalações da organização cliente. De forma a testar as nossas hipóteses recorreu-se a Análise de Regressão e verificou-se que: 1) O LMX está significativamente correlacionado com a implicação afectiva (H1); 2) O conteúdo do contrato psicológico não se relaciona significativamente com a implicação afectiva (H2); 3) A relação entre o LMX e a implicação afectiva não é mediada pelo conteúdo do contrato psicológico. Sugerimos que para investigações futuras seja analisado o papel do conteúdo do contrato psicológico como moderador da relação entre o LMX e a implicação afectiva, assim como a utilização do suporte organizacional (POS) como mediador da relação entre o LMX e a implicação afectiva.

Allopolyploid plants are long known to be subject to a homoeolog expression bias of varying degree. The same phenomenon was only much later suspected to occur also in animals based on studies of single selected genes in an allopolyploid vertebrate, the Iberian fish Squalius alburnoides. Consequently, this species became a good model for understanding the evolution of gene expression regulation in polyploid vertebrates. Here, we analyzed for the first time genome-wide allele-specific expression data from diploid and triploid hybrids of S. alburnoides and compared homoeolog expression profiles of adult livers and of juveniles. Co-expression of alleles from both parental genomic types was observed for the majority of genes, but with marked homoeolog expression bias, suggesting homoeolog specific reshaping of expression level patterns in hybrids. Complete silencing of one allele was also observed irrespective of ploidy level, but not transcriptome wide as previously speculated. Instead, it was found only in a restricted number of genes, particularly ones with functions related to mitochondria and ribosomes. This leads us to hypothesize that allelic silencing may be a way to overcome intergenomic gene expression interaction conflicts, and that homoeolog expression bias may be an important mechanism in the achievement of sustainable genomic interactions, mandatory to the success of allopolyploid systems, as in S. alburnoides.

In 2020, Europe was the setting for several events that sparked off a broad debate on the need for the decolonisation of thought, practices, spaces, monuments and museums. Historically, several European countries have had a direct or indirect relationship with colonialism and its practices, as well as with the authoritarian ways of managing and exercising power (Cahen and Matos 2018; Cooper and Stoler 1997; Matos 2019). The need to reflect on imperial ruins (Stoler 2013) and to decolonise thought today is therefore understandable.

In the rapidly evolving field of primary immunodeficiencies (PID), the EuroFlow consortium decided to develop a PID orientation and screening tube that facilitates fast, standardized, and validated immunophenotypic diagnosis of lymphoid PID, and allows full exchange of data between centers. Our aim was to develop a tool that would be universal for all lymphoid PIDs and offer high sensitivity to identify a lymphoid PID (without a need for specificity to diagnose particular PID) and to guide and prioritize further diagnostic modalities and clinical management. The tube composition has been defined in a stepwise manner through several cycles of design-testing-evaluation-redesign in a multicenter setting. Equally important appeared to be the standardized pre-analytical procedures (sample preparation and instrument setup), analytical procedures (immunostaining and data acquisition), the software analysis (a multidimensional view based on a reference database in Infinicyt software), and data interpretation. This standardized EuroFlow concept has been tested on 250 healthy controls and 99 PID patients with defined genetic defects. In addition, an application of new EuroFlow software tools with multidimensional pattern recognition was designed with inclusion of maturation pathways in multidimensional patterns (APS plots). The major advantage of the EuroFlow approach is that data can be fully exchanged between different laboratories in any country of the world, which is especially of interest for the PID field, with generally low numbers of cases per center.

Neste texto procede-se ao enquadramento da entrevista realizada a Raquel Soeiro de Brito em Junho de 2019 que constitui o tema deste primeiro volume dos Cadernos da Fototeca do Centro de Estudos Geográficos da Universidade de Lisboa. As palavras da entrevistada são analisadas a partir de um conjunto de questões centrais, entre os quais se destaca a importância do trabalho de campo para a epistemologia da Geografia Humana de tradição vidaliana, a discussão sobre as diversas «realidades» inerentes à produção e ao uso das representações fotográficas e a vexata quaestio da construção do saber geográfico sobre espaços tropicais em contexto de colonialismo tardio

The extent to which a policy actor is perceived as being influential by others can shape their role in a policy process. The interest group literature has examined how the use of advocacy tactics, such as lobbying or media campaigns, contributes to an actor’s perceived influence. The policy networks literature, in turn, has found that network ties and occupying certain institutional roles can explain why actors are perceived as influential. When investigating what explains perceptions of influence, interest groups scholars have not accounted for network interdependencies and network scholars have so far not examined the advocacy tactics used by interest groups. This paper addresses the gap at the intersection of these two literatures by investigating the relationship between network ties, institutional roles, advocacy tactics and the presence of influence attribution ties in climate change policy networks. Exponential random graph models are applied to network data collected from the organisations participating in the national climate change policymaking processes in six EU countries that vary by the extent to which they are majoritarian or consensual democracies: Czechia, Finland, Germany, Ireland, Portugal, and Sweden. The results show that network ties and institutional roles are better predictors of influence attribution ties than advocacy tactics and that there is no pattern in the relationship between advocacy tactics and influence attribution ties across different institutional contexts. These findings suggest that because influence is primarily associated with structural factors (network ties and institutional roles) that more established policy actors are likely to have more influence, which may inhibit the need for a significant step change in climate policies.

Neste texto procede-se ao enquadramento da entrevista realizada a Raquel Soeiro de Brito em Junho de 2019 que constitui o tema deste primeiro volume dos Cadernos da Fototeca do Centro de Estudos Geográficos da Universidade de Lisboa. As palavras da entrevistada são analisadas a partir de um conjunto de questões centrais, entre os quais se destaca a importância do trabalho de campo para a epistemologia da Geografia Humana de tradição vidaliana, a discussão sobre as diversas «realidades» inerentes à produção e ao uso das representações fotográficas e a vexata quaestio da construção do saber geográfico sobre espaços tropicais em contexto de colonialismo tardio.

The detection of externalized phosphatidylserine (PS) on the cell surface is commonly used to distinguish between living, apoptotic, and necrotic cells. The tools of choice for many researchers to study apoptosis are annexin V-fluorophore conjugates. However, the use of this 35 kDa protein is associated with several drawbacks, including temperature sensitivity, Ca2+ dependence, and slow binding kinetics. Herein, a fluorogenic probe for cell surface PS, P-IID, is described, which operates by an intramolecular indicator displacement (IID) mechanism. An intramolecularly bound coumarin indicator is released in the presence of cell surface PS, leading to a fluorescence "turn-on" response. P-IID demonstrates superior performance when compared to annexin V, for both fluorescence imaging and flow cytometry. This allows P-IID to be used in time-lapse imaging of apoptosis using confocal laser scanning microscopy and demonstrates the utility of the IID mechanism in live cells.

Since 2011, across the world, young peop1e have occupied buildings, city squares, and streets as part of a wide array of protests. Such experiences attest not only to "the collective power of bodies in public space" (Harvey 2011) but a1so to the significant role played by young people within them. Whether taking place in Tunis, Spain, Chile, or Wall Street, these movements share a commonality in their deeply democratic perspective and organization, putting them at odds with contemporary capitalist politicaI forms. ln Latin America, the occupations with the biggest impact have been those carried out by primary and high school students. Their fame began with La Rebelión Pingüina ("Penguin Revolution"), a Chilean student movement named after the black and white uniforms students wore when protesting on the streets in 2006 as they mobilized for free education and public transportation. The Penguin Revolution triggered Chile's biggest sequence of rallies since the fall of the Pinochet dictatorship and in addition to demonstrations, students also occupied schools (Hernandez Santibafiez 2018). Like othel' Latin American student occupations, Brazilian activists and tudent engaged in new forms Df politicai action. This was characterized by change in decision-making processes meant to promote a less hierarchical organizational model through increasing use Df collective and deliberativt practices. The student movement also sought increased autonomy in relation to conventional politicaI parties, unions, and other traditional politicai institntion .

Esta entrevista a Raquel Soeiro de Brito foi realizada no âmbito de uma investigação sobre o trabalho de campo de geógrafos portugueses em São Tomé e Príncipe nas décadas de 1950 e 1960, tendo por base o fundo da Fototeca do Centro de Estudos Geográficos da Universidade de Lisboa. Esteve centrada nas questões relativas à importância da fotografia em contexto de trabalho de campo e aos respectivos usos nas fases posteriores de produção do trabalho científico e da sua comunicação. O longo percurso de Raquel Soeiro de Brito no domínio da Geografia Tropical foi genericamente passado em revista, tendo-se destacado – para além do caso de São Tomé e Príncipe – os seus estudos sobre os antigos territórios portugueses na Índia e o contexto em que foram produzidos, assim como a memória de alguns dos seus principais interlocutores e colegas, com destaque para Francisco José Tenreiro.

O diagnóstico de doença oncológica e os seus tratamentos provocam um impacto na qualidade de vida, no ajustamento conjugal e na imagem corporal dos pacientes, dado o comprometimento a nível físico, psicológico e social decorrente de todo o processo de doença. Assim, a doença oncológica é susceptível de afectar não só os pacientes, mas igualmente os seus companheiros. O presente estudo, de natureza exploratória e quantitativa, tem como objectivo avaliar a associação do diagnóstico e dos tratamentos da doença oncológica na qualidade de vida e no ajustamento conjugal dos (as) pacientes oncológicos (as) e dos (as) seus (suas) companheiros (as). O ajustamento conjugal é avaliado tendo em conta duas fases distintas: a fase anterior e a fase posterior ao conhecimento do diagnóstico. Pretende-se ainda explorar a associação entre as preocupações dos (as) pacientes com a imagem corporal, decorrentes dos tratamentos do cancro, a sua qualidade de vida e ajustamento conjugal. Participaram na investigação 72 pacientes oncológicos (as) internados (as) nos Serviços de Ginecologia e Cirurgia Geral do Instituto Português de Oncologia de Lisboa – Francisco Gentil (IPOLFG) e 26 companheiros (as). Esta amostra de participantes foi avaliada pelos seguintes instrumentos de avaliação: RDAS, WHOQOL-Bref, FACT-G e BIS. Este último instrumento apenas foi administrado aos pacientes. Os resultados obtidos evidenciaram um ligeiro aumento do nível de ajustamento conjugal na passagem da fase anterior para a fase posterior ao conhecimento do diagnóstico, tanto para os (as) pacientes, como para os (as) companheiros (as). Os (as) pacientes revelaram uma melhoria da estabilidade e do conflito na passagem da fase anterior para a fase posterior ao conhecimento do diagnóstico. Os níveis de qualidade de vida dos (as) pacientes também se revelaram positivos, à excepção do Domínio Físico e da faceta geral da qualidade de vida, avaliados pelo WHOQOL-Bref, e do Bem-estar Global, Bem-estar Emocional e Bem-estar Funcional avaliados pelo FACT-G. Os (as) pacientes já submetidos a cirurgia reportaram uma qualidade de vida mais baixa em relação aos (às) pacientes que ainda aguardavam pela mesma intervenção. Os resultados obtidos revelaram ainda um nível moderado de preocupações com a imagem corporal por parte dos (as) pacientes.

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A necessidade de planeamento e desenvolvimento de Sistemas de Organização do Conhecimento (SOC) implica a identificação de requisitos que garantam a sua eficácia e eficiência. Pretende-se conhecer Modelos de Referência, e os seus requisitos, com potencial para aplicação em sistemas que tenham como finalidade ou sejam utilizados para a Organização do Conhecimento (OC). Nesse âmbito, procura-se: contextualizar a origem e o enquadramento de três Modelos de Referência: MoReq2010, Modelo de Referência OAIS, Digital Library Reference Model; analisar os modelos conceptuais dos Modelos de Referência indicados; comparar os requisitos constantes nos Modelos de Referência; identificar problemas e possíveis soluções para a definição de requisitos para SOC. Para tal, recorreu-se a uma análise comparativa entre os três modelos. Os resultados permitem percecionar que cada Modelo representa um universo SOC específico e com enfoques diferentes. Verifica-se que o desenvolvimento de SOC deve considerar aspetos distintos, que são apresentados pelas diferentes ferramentas analisadas. Sugere- -se que há espaço para o desenvolvimento de modelos de referência SOC, que utilizem os aspetos destacados nesta análise e, igualmente importante, apresentem critérios que levem em consideração uma camada superior da OC, que abranja as restantes.