Repositório RCAAP

A tuberculose é uma infeção causada por Mycobacterium tuberculosis. Apesar de se tratar de uma doença crónica milenar, permanece como um grave problema global de saúde, manifestando-se geralmente como infeção pulmonar. Contudo, pode afetar outras áreas do organismo. A tuberculose extrapulmonar corresponde à infeção por Mycobacterium tuberculosis que afeta variados órgãos com exceção do pulmão. Os dois locais anatómicos de atingimento mais frequente são os gânglios linfáticos e a pleura. Representa, aproximadamente, 15% do número total de casos de tuberculose. Já a tuberculose miliar que resulta da disseminação linfohematogénea de Mycobacterium tuberculosis, é uma forma de doença que envolve concomitantemente o pulmão e diferentes órgãos extra-pulmonares. Representa menos de dois por cento de todos os casos de tuberculose. Vários fatores de risco associam-se a aumento da prevalência destes tipos de tuberculose. Extremos da idade, sexo feminino e determinados grupos étnicos têm maior probabilidade de apresentar manifestações extrapulmonares, enquanto a doença miliar afeta mais o sexo masculino. Adicionalmente, doentes imunodeprimidos, como sejam aqueles a realizar tratamento com inibidores do TNF-α, com coinfeção por VIH e em status pós-transplante, apresentam risco aumentado de doença extrapulmonar e miliar. Além disso, doenças médicas como a diabetes mellitus, a doença renal crónica e doenças do tecido conjuntivo particularmente o lúpus eritematoso sistémico, assumem-se como fatores de risco relevantes para ambas as doenças. Por fim, vários polimorfismos genéticos foram propostos no sentido de explicar diferenças de prevalência de tuberculose extrapulmonar entre diferentes populações. De forma a ilustrar a tuberculose extrapulmonar e miliar, é apresentado um caso clínico de uma doente que se encontrava a realizar tratamento com adalimumab, um inibidor do TNF-α, e que desenvolveu doença disseminada no contexto de infeção por Mycobacterium tuberculosis. Seguidamente, serão discutidos em detalhe a epidemiologia e os fatores de risco relacionados com o desenvolvimento de doença extrapulmonar e miliar.

Individual variability may contribute to the modest and inconsistent results reported in obesity-management interventions. This study aimed to investigate the impact of non-modifiable as well as modifiable factors on body mass index (BMI) and body fat variance in adolescents with obesity followed in a clinical obesity-management programme, in order to better understand individual variability. Non-modifiable factors (i.e. socio-economic status, pregnancy BMI, weight progression across pregnancy, BMI at time of delivery, way of delivery, birth weight, breastfeeding duration, age at overweight onset, overweight duration, and FTO rs9939609 polymorphism) and modifiable factors data (i.e. self-determination level, self-efficacy and perception of importance to lose weight, energy intake, physical activity, and sedentary behaviours) from 63 adolescents (93.7% Caucasian, 55.6% girls), with a median age of 15.0 (2.5) years, and a median BMI z-score of 2.88 (0.70), followed for 6 months were analyzed. BMI z-score variance was predicted by vigorous physical activity (VPA) (F(1,57) = 4.55, p = .039), overweight duration (F(1,59) = 5.61, p = .022), way of delivery (F(2,58) = 6.55, p = .003) and self-determination level (F(1,59) = 4.75, p = .034). VPA further predicted body fat mass (%) (F(1,57) = 9.99, p = .003) as well as trunk fat mass variance (F(1,57) = 8.94, p = .006). This study suggests that although both non-modifiable and modifiable factors influence BMI and body fat variance to some extent, in adolescents with obesity, VPA (modifiable factor) stands out as the factor with the best association with both outcomes. VPA may be a potential ally in the success of clinical obesity management in adolescents, and so should be emphasised in this population.Highlights There is a huge individual variability within studies in response to adolescent obesity-management interventions.Both non-modifiable and modifiable factors may influence body mass index (BMI) and body fat variance, influencing interventions' outcomes.The predictive value of both non-modifiable and modifiable factors largely overlaps, making lighter the burden of the former and highlighting the value of lifestyle changes.Among modifiable factors, vigorous physical activity standouts as the factor with the best (negative) association with BMI and body fat variance.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation-based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.

Frailty is a health condition leading to many adverse clinical outcomes. The relationship between frailty and advanced age, multimorbidity and disability has a significant impact on healthcare systems. Frailty increases cardiovascular (CV) morbidity and mortality both in patients with or without known CV disease. Though the recognition of this additional risk factor has become increasingly clinically relevant in CV diseases, uncertainty remains about operative definitions, screening, assessment, and management of frailty. Since the burdens of frailty components and domains may vary in the various CV diseases and clinical settings, the relevance of specific frailty-related aspects may be different. Understanding these issues may allow general cardiologists a clearer focus on frailty in CV diseases and thereby make more tailored clinical decisions and therapeutic choices in outpatients. Guidance on identification and management of frailty are sparse and an international consensus document on frailty in general cardiology is lacking. Moreover, new options linked with eHealth are going to better define and manage frailty. This consensus document on definition, assessment, clinical implications, and management of frailty provides an input to integrate strategies pre- and post-acute CV events with a comprehensive view including out of hospital, office-based diagnostic and therapeutic choices, and based on a multidisciplinary team approach (general cardiologists, nurses, and general practitioners).

No final do ano de 2019 contavam-se em Portugal cerca de 13 000 pessoas em situação de reclusão, tendo no total passado perto de 18 000 reclusos pelo sistema prisional durante o mesmo ano. Na literatura, a prevalência das perturbações psiquiátricas nesta população é consistentemente superior à da população em geral, o que se reflete nas taxas de suicídio, cerca 3 a 6 vezes superiores em reclusos. Torna-se assim relevante o estudo dos fatores que condicionam a melhoria ou pioria do status de saúde mental das pessoas em situação de reclusão, o que constitui o objetivo principal deste trabalho. Nesse sentido, foi realizada uma revisão integrada da literatura, com enquadramento histórico e social do sistema prisional. Foi ainda situada a realidade portuguesa no paradigma mundial quanto aos vários fatores avaliados, sendo estes a sobrelotação dos estabelecimentos prisionais, o isolamento e segregação dos reclusos, a vitimização que experimentam e testemunham, as atividades que lhes são fornecidas no decurso da sua pena e ainda o acesso e a qualidade dos cuidados de saúde mental no sistema correcional.

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Atrial fibrillation (AF) is commonly associated with advanced age and the presence of multiple, concomitant acute and chronic health conditions, placing this population at high risk for serious therapeutic side effects. Nonvitamin K antagonist oral anticoagulants (NOACs) are increasingly used for stroke prevention in patients with atrial fibrillation. The purpose of this study was to investigate the effectiveness and safety of NOAC in a group at high risk of bleeding complications, in a real-world setting. We conducted a retrospective analysis of a high-risk cohort of 418 patients (pts) followed-up in our anticoagulation unit; data on patient characteristics, anticoagulation treatment, and bleeding and thrombotic complications were evaluated. The population had a median age of 77.8 ± 10.3 years and the mean CHA2DS2-VASc score was 3.85 (SD ± 1.4). Overall, 289 (69.1%) were ≥75 years old. During a mean follow-up time of 51.2 ± 35.7 months, we observed a rate of any bleeding of 7, a clinically relevant non-major bleeding rate of 4.8, a major bleeding rate of 2.2, a stroke rate of 1.6, and a rate of thrombotic events of 0.28 per 100 patient-years. There were 59 hospitalizations due to any cause (14.1%) and 36 (8.6%) deaths (one due to ischemic stroke). A structured follow-up, with judicious prescribing and drug compliance, may contribute to preventing potential complications.

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Sulfur (S) is a macro-element required for life. S deficiency limits plant growth. Microorganisms carry out several essential steps in the recycling of organic and inorganic S in soils. Microbes and plants interact, mainly in the rhizosphere, but the mechanisms ruling these interactions and the extent of such relationships remain poorly understood. Here, we update current perspectives on the role of specific microorganisms involved in S cycling and the spatial interaction between plants and microbes. To contextualize the pitfalls of current approaches in studying soil S transformations, we review the current main established steps, redox reactions and microbial players in the S cycle. The incorporation of novel microbial taxa, namely those important for organic S mineralization, which may be important ecosystem players in terms of soil functionality, and of the spatial-temporal context at aggregate-level for the relevance of plant-microbe interactions, introduce important implications involving the role of microorganisms in the rhizosphere and require an integrated analysis. Herein, the rhizosphere is a focus – a habitat of selected low-abundance species, where important microbial groups act in S turnover and plant growth – while keeping a perspective on important microbial feedback S fluxes that may occur in bulk soils.

This article summarizes the data of a survey of flowering plants in 80 sites in five European cities and urban agglomerations (Antwerp, Belgium; greater Paris, France; Poznan, Poland; Tartu, Estonia; and Zurich, Switzerland). Sampling sites were selected based on a double orthogonal gradient of size and connectivity and were urban green areas (e.g. parks, cemeteries). To characterize the flowering plants, two sampling methodologies were applied between April and July 2018. First, a floristic inventory of the occurrence of all flowering plants in the five cities. Second, flower counts in sampling plots of standardized size (1 m2) only in Zurich. We sampled 2146 plant species (contained in 824 genera and 137 families) and across the five cities. For each plant species, we provide its origin status (i.e. whether the plants are native from Europe or not) and 11 functional traits potentially important for plant-pollinator interactions. For each study site, we provide the number of species, genera, and families recorded, the Shannon diversity as well as the proportion of exotic species, herbs, shrubs and trees. In addition, we provide information on the patch size, connectivity, and urban intensity, using four remote sensing-based proxies measured at 100- and 800-m radii.

Marine traffic is the most common and chronic source of ocean noise pollution. Despite the evidence of detrimental effects of noise exposure on fish, knowledge about the effects on the critical early life stages - embryos and larvae - is still scarce. Here, we take a natural habitat-based approach to examine potential impacts of boat noise exposure in early life stages in a wild fish population of the Lusitanian toadfish (Halobatrachus didactylus). In-situ experiments were carried out in the Tagus estuary, an estuary with significant commercial and recreational boat traffic. Nests with eggs were exposed to either ambient (control) or boat noise (treatment), for 1 fortnight. Eggs were photographed before being assigned to each treatment, and after exposure, to count number of eggs and/or larvae to assess survival, and sampled to study development and oxidative stress and energy metabolism-related biomarkers. Data concerns 4 sampling periods (fortnights) from 2 years. Results indicate that offspring survival did not differ between treatments, but boat noise induced a detrimental effect on embryos and larvae stress response, and on larvae development. Embryos showed reduced levels of electron transport system (ETS), an energy metabolism-related biomarker, while larvae showed higher overall stress responses, with increased levels of superoxide dismutase (SOD) and DNA damage (oxidative stress related responses), ETS, and reduced growth. With this study, we provided the first evidence of detrimental effects of boat noise exposure on fish development in the field and on stress biomarker responses. If these critical early stages are not able to compensate and/or acclimate to the noise stress later in the ontogeny, then anthropogenic noise has the potential to severely affect this and likely other marine fishes, with further consequences for populations resilience and dynamics.

The environment is considered a major reservoir of antimicrobial resistant microorganisms (AMR) and antimicrobial resistance genes (ARG). Colistin, a “last resort” antibiotic, is used for the treatment of severe infections caused by multidrug-resistant Gram-negative bacteria. The global dissemination of mobile colistin resistance genes (mcr) in natural and non-natural environments is a major setback in the fight against antimicrobial resistance. Hitherto, there is a limited number of studies screening this resistance determinant in bacteria from wildlife. In this study, we describe for the first time the detection of plasmid-mediated colistin resistance in Escherichia coli from wild ungulates in Portugal, which are also widely distributed across Europe. This information is critical to identify the importance of ungulates in the dissemination of resistant bacteria, and their corresponding genes, across the environment. Here, 151 resistant-Enterobacteriaceae isolated from 181 samples collected from different wild ungulate species throughout Portugal were screened for mcr genes. Four mcr-1-positive Escherichia coli were detected from four fallow deer individuals that were sampled in the same hunting ground. These four isolates harboured mcr-1-related IncP plasmids belonging to sequencing types ST155, ST533 and ST345 (n = 2), suggesting bacterial and/or plasmid circulation. All mcr-1-positive E. coli also showed other resistance phenotypes, including MDR, including the B1 commensal phylogenetic profile. All mcr-1-positive E. coli show additional resistance phenotypes, including MDR, including the B1 commensal phylogenetic profile. Our findings are upsetting, highlighting the global dissemination of colistin resistance genes in the whole ecosystem, which, under the One Health framework, emphasizes the urgent need for effective implementation of AMR surveillance and control in the human-animal-environment interfaces.

Esta Newsletter (NL) resulta de uma parceria entre o Instituto de Saúde Baseada na Evidência e a Cochrane Portugal, e tem como objectivo disponibilizar informação sobre áreas interessantes para a prática clínica, com base na melhor evidência científica. São incluídos estudos relevantes, criticamente avaliados pela sua validade, importância dos resultados e aplicabilidade prática, resumidos numa óptica de suporte à decisão. É dada prioridade a estudos de causalidade incluindo-se ainda, quando justificado, estudos qualitativos e metodológicos, assim como revisões científicas. O conteúdo da NL é da exclusiva responsabilidade do(s) seu(s) autor(es).

The invasion of natural communities by non-indigenous species represents one of the most serious threats to biodiversity. Understanding the ecophysiology of invasive species can provide insights into potential physiological handicaps relative to native species. By doing so, we can leverage the development of ecoengineering solutions for the removal of non-indigenous species, preferably using non-chemical methods. Spartina patens is a known invasive species of cordgrass aggressively proliferating in Mediterranean salt marshes, producing impenetrable monospecific stands. As its occurrence is delimited by the upper high tide water level, we hypothesized that S. patens is intolerant to waterlogging. Therefore, we developed a field experiment where strands of S. patens were kept waterlogged over the entire tidal cycle for 30 days. At the end of the experimental period, plants in the trial plots exhibited severe stress symptoms at different physiological levels compared with control plots (no intervention). At the photobiological level, intervened plants exhibited lower efficiency in producing chemical energy from light, whilst at the biochemical level waterlogging impaired the antioxidant system and increased lipid peroxidation products. Furthermore, the application of chlorophyll a pulse amplitude modulated (PAM) fluorometry, a non-invasive technique, allowed us to evaluate the effectiveness of the implemented measures, being the tool that provided the best separation between the control and intervened population. Considering the physiological traits observed here, ecoengineering solutions based on increased waterlogging of S. patens stands, can be a low-cost and efficient measure to reduce the spreading and growth of this invasive species in the Mediterranean and other salt marshes worldwide with little disturbance.

Seventeen European endemic plant species were considered extinct, but improved taxonomic and distribution knowledge as well as ex situ collecting activities brought them out of the extinct status. These species have now been reported into a conservation framework that may promote legal protection and in situ and ex situ conservation.

The widely invasive North American pumpkinseed sunfish, Lepomis gibbosus, is currently established in desert rivers in Morocco. The success of pumpkinseed in novel ecosystems has been associated with its generalist diet, but this trait remains unevaluated in arid regions. Desert rivers are harsh environments with limited water and prey availability which may adversely constrain the diet of fish. Here we studied the diet of pumpkinseed across 4 sites in the Draa River, embracing a 450 m elevational gradient covering from extremely dry lowlands to relatively humid highlands. We described pumpkinseed diet through the analysis of stomach contents of 82 individuals, collected in the fall of 2013. Pumpkinseed diet was dominated by Chironomidae in dry lowlands, while Ephemeroptera, Heteroptera, Trichoptera and Odonata were relevant prey in more humid highlands. Population diet breadth expanded with elevation, but individual specialization in diet was low among all sites. Our results highlight considerable changes in diet composition and breadth with aridity, suggesting that feeding plasticity and use of exclusive, locally abundant prey rather than generalized feeding may be associated with the success of pumpkinseed in most arid areas in desert rivers.

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The amount of biological data available in online repositories is increasing at an exponential rate. However, data on marine invertebrate biodiversity resources from Mozambique and São Tomé and Príncipe are still sparse and scattered. Online repositories are useful instruments for biodiversity research, as they provide a fast access to data from different sources. The use of interactive platforms comprising web mapping are becoming more important, not only for the scientific community, but also for conservation managers, decision-makers and the general public as they allow data presentation in simple and understandable visual schemes. The main goal of this study was to create an interactive online digital map (hosted and available at MARINBIODIV Atlas), through the collection of data from various sources, to visualise marine invertebrate occurrences and distribution across different habitats, namely mangroves, seagrasses, corals and other coastal areas, in Mozambique and São Tomé and Príncipe. The acquired biodiversity data were managed and structured to be displayed as spatial data and to be disseminated using the geographic information system ArcGIS, where data can be accessed, filtered and mapped. The ArcGIS web mapping design tools were used to produce interactive maps to visualise marine invertebrate diversity information along the coasts of Mozambique and São Tomé and Príncipe, through different habitats, offering the foundation for analysing species incidence and allocation information. Understanding the spatial occurrences and distribution of marine invertebrates in both countries can provide a valuable baseline, regarding information and trends on their coastal marine biodiversity.

Genome sequencing has reinvigorated the infectious disease research feld, shedding light on disease epidemiology, pathogenesis, host–pathogen interactions and also evolutionary processes exerted upon pathogens. Mycobacterium tuberculosis complex (MTBC), enclosing M. bovis as one of its animal-adapted members causing tuberculosis (TB) in terrestrial mammals, is a paradigmatic model of bacterial evolution. As other MTBC members, M. bovis is postulated as a strictly clonal, slowly evolving pathogen, with apparently no signs of recombination or horizontal gene transfer. In this work, we applied comparative genomics to a whole genome sequence (WGS) dataset composed by 70 M. bovis from diferent lineages (European and African) to gain insights into the evolutionary forces that shape genetic diversifcation in M. bovis. Three distinct approaches were used to estimate signs of recombination. Globally, a small number of recombinant events was identifed and confrmed by two independent methods with solid support. Still, recombination reveals a weaker efect on M. bovis diversity compared with mutation (overall r/m= 0.037). The diferential r/m average values obtained across the clonal complexes of M. bovis in our dataset are consistent with the general notion that the extent of recombination may vary widely among lineages assigned to the same taxonomical species. Based on this work, recombination in M. bovis cannot be excluded and should thus be a topic of further efort in future comparative genomics studies for which WGS of large datasets from diferent epidemiological scenarios across the world is crucial. A smaller M. bovis dataset (n= 42) from a multi-host TB endemic scenario was then subjected to additional analyses, with the identifcation of more than 1,800 sites wherein at least one strain showed a single nucleotide polymorphism (SNP). The majority (87.1%) was located in coding regions, with the global ratio of non-synonymous upon synonymous alterations (dN/dS) exceeding 1.5, suggesting that positive selection is an important evolutionary force exerted upon M. bovis. A higher percentage of SNPs was detected in genes enriched into “lipid metabolism”, “cell wall and cell processes” and “intermediary metabolism and respiration” functional categories, revealing their underlying importance in M. bovis biology and evolution. A closer look on genes prone to horizontal gene transfer in the MTBC ancestor and included in the 3R (DNA repair, replication and recombination) system revealed a global average negative value for Taijima’s D neutrality test, suggesting that past selective sweeps and population expansion after a recent bottleneck remain as major evolutionary drivers of the obligatory pathogen M. bovis in its struggle with the host.

Animal tuberculosis (TB) is an emergent disease caused by Mycobacterium bovis, one of the animal-adapted ecotypes of the Mycobacterium tuberculosis complex (MTC). In this work, whole-genome comparative analyses of 70 M. bovis were performed to gain insights into the pan-genome architecture. The comparison across M. bovis predicted genome composition enabled clustering into the core- and accessory-genome components, with 2736 CDS for the former, while the accessory moiety included 3897 CDS, of which 2656 are restricted to one/two genomes only. These analyses predicted an open pan-genome architecture, with an average of 32 CDS added by each genome and show the diversification of discrete M. bovis subpopulations supported by both core- and accessory-genome components. The functional annotation of the pan-genome classified each CDS into one or several COG (Clusters of Orthologous Groups) categories, revealing ‘transcription’ (total average CDSs, n=258), ‘lipid metabolism and transport’ (n=242), ‘energy production and conversion’ (n=214) and ‘unknown function’ (n=876) as the most represented. The closer analysis of polymorphisms in virulence-related genes in a restrict group of M. bovis from a multi-host system enabled the identification of clade-monomorphic non-synonymous SNPs, illustrating clade-specific virulence landscapes and correlating with disease severity. This first comparative pan-genome study of a diverse collection of M. bovis encompassing all clonal complexes indicates a high percentage of accessory genes and denotes an open, dynamic non-conservative pan-genome structure, with high evolutionary potential, defying the canons of MTC biology. Furthermore, it shows that M. bovis can shape its virulence repertoire, either by acquisition and loss of genes or by SNP-based diversification, likely towards host immune evasion, adaptation and persistence.