1,287 research outputs found

    Tireoide ectópica no mediastino anterior

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    Ectopic thyroid is a rare condition, and its location in the anterior mediastinum is even rarer, there having been only 5 reported cases in the past 30 years. Here, we describe 2 clinical cases and present a review of the literature regarding the etiology, embryology and clinical manifestations of ectopic thyroid

    Genes from the TAS1R and TAS2R families of taste receptors: Looking for signatures of their adaptive role in human evolution

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    Taste perception is crucial in monitoring food intake and, hence, is thought to play a significant role in human evolution. To gain insights into possible adaptive signatures in genes encoding bitter, sweet, and umami taste receptors, we surveyed the available sequence variation data from the 1000 Genomes Project Phase 3 for TAS1R (TAS1R1-3) and TAS2R (TAS2R16 and TAS2R38) families. Our study demonstrated that genes from these two families have experienced contrasting evolutionary histories: While TAS1R1 and TAS1R3 showed worldwide evidence of positive selection, probably correlated with improved umami and sweet perception, the patterns of variation displayed by TAS2R16 and TAS2R38 were more consistent with scenarios of balancing selection that possibly conferred a heterozygous advantage associated with better capacity to perceive a wide range of bitter compounds. In TAS2R16, such adaptive events appear to have occurred restrictively in mainland Africa, whereas the strongest evidence in TAS2R38 was detected in Europe. Despite plausible associations between taste perception and the TAS1R and TAS2R selective signatures, we cannot discount other biological mechanisms as driving the evolutionary trajectories of those TAS1R and TAS2R members, especially given recent findings of taste receptors behaving as the products of pleiotropic genes involved in many functions outside the gustatory system.IPATIMUP is included in the i3S Consortium, which is partially supported by the Portuguese Foundation for Science and Technology (FCT). This work is also funded by FEDER funds through the Operational Programme Competitiveness Factors (COMPETE) and National Funds through the FCT (projects PEst-C/SAU/LA0003/2013 and POCI-01-0145-FEDER-007274, fellowships SFRH/BD/63343/2009 to C.V., SFRH/ BPD/65000/2009 to L.A., and SFRH/BPD/120777/2016 to P.I.M.), and by Programa Operacional Regional do Norte (Norte 2020), through FEDER funds under the Quadro de Referência Estratégico Nacional (QREN; NORTE-01-0145-FEDER-000029). We thank Jacquelyn Beals for the careful editing of the work. We also thank Sònia Casillas for the helpful instructions about the tracks from the PopHuman browser, and Miguel Arenas and Eduardo Conde Sousa for the aid in extracting data from those tracks

    Altered expression of the immunoregulatory ligand-receptor pair CD200-CD200R1 in the brain of Parkinson's disease patients

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    Neuroinflammation, in which activated microglia are involved, appears to contribute to the development of Parkinson's disease (PD). However, the role of microglial activation and the mechanisms governing this process remain uncertain. We focused on one inhibitory mechanism involved in the control of microglial activation, the microglia inhibitory receptor CD200R1, and its ligand CD200, mainly expressed by neurons. The human CD200R1 gene encodes two membrane-associated and two soluble protein isoforms and the human CD200 gene encodes full-length proteins (CD200full) but also truncated (CD200tr) proteins which act as CD200R1 antagonists. Little is known about their expression in the human brain under pathological conditions. We used human peripheral blood monocytes and monocyte-derived microglia-like cells from control subjects to characterize the expression of the CD200R1 mRNA variants, which showed stimulus-specific responses. We provide evidence of increased CD200R1 (mRNA variants and protein isoforms) and CD200 expression (CD200tr mRNA) in brain tissue of PD patients, mainly in the hippocampus, as well as increased CD200 expression (CD200full and CD200tr mRNAs) in iPSCs-derived dopaminergic neurons generated from skin fibroblasts of PD patients. Our results suggest that CD200-CD200R1 signalling is altered in PD, which may affect the microglial function and constitute a potential target in therapeutic strategies for PD.© 2022. The Author(s)

    Chronic hepatitis C treatment in HIV co-infection in Portugal: Results from a cohort OF 2133 patients presented by GEPCOI (Portuguese Coinfection Study Group)

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    Direct-acting antiviral drugs (DAAs) have recently changed the paradigm of hepatitis C therapy, significantly improving treatment response rates, patient life expectancy and quality of life. In Portugal, sofosbuvir (SOF) and SOF/ledipasvir (SOF/LDV) were fully reimbursed by the National Health System since early 2015 and generalized use of interferon-free DAA based regimens became current practice. During 2016, the remaining DAAs were sequentially added and covered by the same health access policy. The Portuguese Study Group of Hepatitis and HIV Co-infection (GEPCOI) collected data from 15 clinical centres in Portugal, pertaining to the HCV treatment experience with DAA regimens. A cohort of 2133 patients was analysed, representing one of the largest DAA treated HCV/HIV co-infected individuals. The global sustained virologic response (SVR) achieved was 95% in this real-life cohort setting. Linear regression analysis showed significant differences in treatment response rates when using SOF plus ribavirin (RBV) combination in genotype 2 or 3 infected individuals (P < .002) and in those with liver cirrhosis (P < .002). These findings corroborate that early treatment is mandatory in HIV/HCV co-infected patients, as response rates may be negatively influenced by higher fibrosis stages and suboptimal DAA regimens. The current national Portuguese health policy should continue to promote wider treatment access and individualized therapy strategies, aiming at the elimination of HCV infection in this high-risk co-infected populationinfo:eu-repo/semantics/publishedVersio

    Why should we screen for perinatal depression? Ten reasons to do it

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    In this paper we review some of the best available evidence to argue that screening for perinatal depression should be systematically conducted since pregnancy. Our view is organized in ten topics: (1) perinatal depression high prevalence; (2) its potential negative consequences, including maternal, conjugal, foetal, infantile, and child effects; (3) its under-detection and treatment; (4) its stigma; (5) the professionals and women misconceptions related to perinatal depression; (6) the availability of valid and short self-report screening instruments for perinatal depression and (7) their acceptability; (8) the increase in recognition, diagnosis, and treatment rates in comparison with routine practice; (9) the opportunity, given the large number of contacts that women have with health professionals in the perinatal period; and (10) perinatal depression screening potential cost-effectiveness

    Perfeccionismo no transtorno obsessivo-compulsivo e nos transtornos alimentares

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    OBJETIVO: Este estudo tem dois objetivos principais. Primeiro, avaliar as dimensões do perfeccionismo no transtorno obsessivo-compulsivo e nos transtornos alimentares em comparação com duas amostras controle: psiquiátrica (depressão/ansiedade) e não clínica. Segundo, avaliar se o perfeccionismo é um traço de personalidade especificamente relacionado com estas diferentes condições clínicas. MÉTODO: 39 pacientes com transtorno obsessivo-compulsivo, 24 com transtornos alimentares, 65 com um diagnóstico de depressão e/ou ansiedade (todos estes pacientes encontravam-se em regime de ambulatório) e 70 controles não clínicos completaram a versão portuguesa da Multidimensional Perfectionism Scale. RESULTADOS: Comparativamente à amostra não clínica, todas as amostras clínicas apresentaram níveis significativamente mais elevados na Multidimensional Perfectionism Scale total, no Perfeccionismo Auto-Orientado e no Perfeccionismo-Socialmente-Prescrito. Não houve diferenças estatisticamente significativas no Perfeccionismo-Auto-Orientado e na Multidimensional Perfectionism Scale total nas três amostras clínicas. No entanto, a amostra com transtornos alimentares apresentou níveis significativamente mais elevados de Perfeccionismo-Socialmente-Prescrito, comparativamente à transtornos alimentares e à amostra psiquiátrica (depressão/ansiedade). CONCLUSÃO: O perfeccionismo revelou estar associado a uma grande variedade de condições psicopatológicas. Contudo, as diferenças encontradas entre a amostra de transtornos alimentares, de transtorno obsessivo-compulsivo e a psiquiátrica no Perfeccionismo-Socialmente-Prescrito necessitam de investigação subsequente no sentido de clarificar a especificidade desta dimensão com os transtornos alimentares

    Chronic Hepatitis C Treatment in HIV Co-Infection in Portugal: Results from a Cohort OF 2133 Patients Presented by GEPCOI (Portuguese Coinfection Study Group)

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    Direct-acting antiviral drugs (DAAs) have recently changed the paradigm of hepatitis C therapy, significantly improving treatment response rates, patient life expectancy and quality of life. In Portugal, sofosbuvir (SOF) and SOF/ledipasvir (SOF/LDV) were fully reimbursed by the National Health System since early 2015 and generalized use of interferon-free DAA based regimens became current practice. During 2016, the remaining DAAs were sequentially added and covered by the same health access policy. The Portuguese Study Group of Hepatitis and HIV Co-infection (GEPCOI) collected data from 15 clinical centres in Portugal, pertaining to the HCV treatment experience with DAA regimens. A cohort of 2133 patients was analysed, representing one of the largest DAA treated HCV/HIV co-infected individuals. The global sustained virologic response (SVR) achieved was 95% in this real-life cohort setting. Linear regression analysis showed significant differences in treatment response rates when using SOF plus ribavirin (RBV) combination in genotype 2 or 3 infected individuals (P < .002) and in those with liver cirrhosis (P < .002). These findings corroborate that early treatment is mandatory in HIV/HCV co-infected patients, as response rates may be negatively influenced by higher fibrosis stages and suboptimal DAA regimens. The current national Portuguese health policy should continue to promote wider treatment access and individualized therapy strategies, aiming at the elimination of HCV infection in this high-risk co-infected population.info:eu-repo/semantics/publishedVersio

    Lightweight alkali-activated materials and ordinary Portland cement composites using recycled polyvinyl chloride and waste glass aggregates to fully replace natural sand

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    Data availability: Data will be made available on request.Copyright © 2023 The Authors. Polyvinyl chloride plastic (PVC) and glass waste have proven to be significant environmental concerns considering their restricted reuse and complicated recycling procedures. Glass and PVC waste materials form a substantial portion of total solid wastes that negatively influence the environment. This study aims to fully replace natural sand with recycled PVC and waste glass aggregates in alkali-activated materials (AAMs). A comprehensive testing programme was employed to investigate the effect of 100 % aggregate replacement on the composites’ mechanical performance, water absorption, impact resistance, thermal conductivity, resistance to harsh environments, and microstructural changes. Results revealed that AAMs containing recycled PVC and glass aggregates outperformed their ordinary Portland cement (OPC)-based composite counterparts in terms of mechanical properties, energy absorption, thermal conductivity, and carbon footprint estimation. Although mixtures containing recycled aggregates cannot be deemed for load-bearing applications, these composites exhibited a promising capacity to be used in insulating applications. AAMs containing 100 vol-% PVC aggregates with flexural and compressive strengths of 9 and 11 MPa, respectively, registered the highest energy absorption of about 6 J, three times higher than the AAM control sample, and the lowest thermal conductivity of about 0.5 W/mK, with about 80 % reduction of thermal conductivity compared to the AAM control sample. With the full replacement of PVC and glass aggregates, the most significant decrease in the carbon footprint is achieved for AAM (−352.25 kg CO2-eq) and OPC (−353.94 kg CO2-eq), respectively.DigiMat project, which has received funding from the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement ID: 101029471
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