1,543 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

    Custos Diretos de Internamento por COVID-19 num Centro Hospitalar Universitário Português

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    Background: The COVID-19 pandemic has posed greater financial pressure on health systems and institutions that had to respond to the specific needs of COVID-19 patients while ensuring the safety of the diagnosis and treatment of all patients and healthcare professionals. To assess the financial impact of COVID-19 patients admitted to hospitals, we have characterized the cost of COVID-19 admissions, using inpatient data from a Portuguese Tertiary Care University Centre. Methods: We analysed inpatient data from adult patients di agnosed with COVID-19 who were admitted between March 1, 2020 and May 31, 2020. Admissions were eligible if the ICD-10-CM principal diagnosis was coded U07.1. We excluded admissions from patients under 18 years old, admissions with incomplete records, admissions from patients who had been transferred to or from other hospitals or those whose inpatient stay was under 24 h. Pregnancy, childbirth, and puerperium admissions were also excluded, as well as adsions from patients who had undergone surgery. Results: We identified 223 admissions of patients diagnosed with COVID-19. Most were men (64.1%) and aged 45–64 years (30.5%). Around 13.0% of patients were admitted to intensive care units and 9.9% died in hospital. The average length of hospital stay was 12.7 days (SD = 10.2) and the average estimated cost per admission was EUR 8,177 (SD = 11,534), which represents more than triple the inpatient base price (EUR 2,386). Human resources accounted for the highest proportion of the total costs per admission (50.8%). About 92.4% of the admissions were assigned to Diagnosis Related Group (DRG) 723, whose inpatient price is lower than COVID-19 inpatient costs for all degrees of severity. Conclusion: COVID-19 admissions represent a substantial financial bur den for the Portuguese NHS. For each COVID-19 hospitalized patient it would have been possible to treat three other hos pitalized patients. Also, the price set for DRG 723 is not adjusted to the cost of COVID-19 patients. These findings highlight the need for additional financial resources for the health system and, in particular, for hospitals that have treated high volumes of hospitalized patients diagnosed with COVID-19.info:eu-repo/semantics/publishedVersio

    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

    Cross-cultural adaptation and validation of the “spinal cord injury-falls concern scale” in the Italian population

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    Study design: Psychometrics study. Objective: The objective of this study was to develop an Italian version of the Spinal Cord Injury-Falls Concern Scale (SCI-FCS) and examine its reliability and validity. Setting: Multicenter study in spinal units in Northern and Southern Italy. The scale also was administered to non-hospitalized outpatient clinic patients. Methods: The original scale was translated from English to Italian using the “Translation and Cultural Adaptation of Patient-Reported Outcomes Measures” guidelines. The reliability and validity of the culturally adapted scale were assessed following the “Consensus-Based Standards for the Selection of Health Status Measurement Instruments” checklist. The SCI-FCS-I internal consistency, inter-rater, and intra-rater reliability were examined using Cronbach’s alpha coefficient and the intraclass correlation coefficient, respectively. Concurrent validity was evaluated using Pearson’s correlation coefficient with the Italian version of the short form of the Wheelchair Use Confidence Scale for Manual Wheelchair Users (WheelCon-M-I-short form). Results: The Italian version of the SCI-FCS-I was administered to 124 participants from 1 June to 30 September 2017. The mean ± SD of the SCI-FCS-I score was 16.73 ± 5.88. All SCI-FCS items were either identical or similar in meaning to the original version’s items. Cronbach’s α was 0.827 (p < 0.01), the inter-rater reliability was 0.972 (p < 0.01), and the intra-rater reliability was 0.973 (p < 0.01). Pearson’s correlation coefficient of the SCI-FCS-I scores with the WheelCon-M-I-short form was 0.56 (p < 0.01). Conclusions: The SCI-FCS-I was found to be reliable and a valid outcome measure for assessing manual wheelchair concerns about falling in the Italian population

    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
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