35 research outputs found

    Avanços recentes em nutrição de larvas de peixes

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    Os requisitos nutricionais de larvas de peixes são ainda mal compreendidos, o que leva a altas mortalidades e problemas de qualidade no seu cultivo. Este trabalho pretende fazer uma revisão de novas metodologias de investigação, tais como estudos com marcadores, genómica populacional, programação nutricional, génomica e proteómica funcionais, e fornecer ainda alguns exemplos das utilizações presentes e perspectivas futuras em estudos de nutrição de larvas de peixes

    Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

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    Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

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    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

    Timing and severity of inhibitor development in recombinant versus plasma-derived factor VIII concentrates: a SIPPET analysis

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    Essentials Recombinant factor VIII (rFVIII) was contrasted with plasma-derived FVIII (pdFVIII). In previously untreated patients with hemophilia A, rFVIII led to more inhibitors than pdFVIII. Inhibitors with rFVIII developed earlier, and the peak rate was higher than with pdFVIII. Inhibitors with rFVIII were more severe (higher titre) than with pdFVIII. Summary: Background The development of neutralizing antibodies (inhibitors) against factor VIII (FVIII) is the most severe complication in the early phases of treatment of severe hemophilia A. Recently, a randomized trial, the Survey of Inhibitors in Plasma-Product Exposed Toddlers (SIPPET) demonstrated a 2-fold higher risk of inhibitor development in children treated with recombinant FVIII (rFVIII) products than with plasma-derived FVIII (pdFVIII) during the first 50 exposure days (EDs). Objective/Methods In this post-hoc SIPPET analysis we evaluated the rate of inhibitor incidence over time by every 5 EDs (from 0 to 50 EDs) in patients treated with different classes of FVIII product, made possible by a frequent testing regime. Results The highest rate of inhibitor development occurred in the first 10 EDs, with a large contrast between rFVIII and pdFVIII during the first 5 EDs: hazard ratio 3.14 (95% confidence interval [CI], 1.01\ue2\u80\u939.74) for all inhibitors and 4.19 (95% CI, 1.18\ue2\u80\u9314.8) for high-titer inhibitors. For patients treated with pdFVIII, the peak of inhibitor development occurred later (6\ue2\u80\u9310 EDs) and lasted for a shorter time. Conclusion These results emphasize the high immunologic vulnerability of patients during the earliest exposure to FVIII concentrates, with the strongest response to recombinant FVIII products

    Whole-genome sequencing reveals host factors underlying critical COVID-19

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    Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

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    Influenza A(H1N1) pdm09 virus among healthy show pigs, United States

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    10.3201/eid1809.120431Emerging Infectious Diseases1891519-152

    Systematic Review of the Performance of Noninvasive Tests in Diagnosing Bladder Outlet Obstruction in Men with Lower Urinary Tract Symptoms [figure presented]

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    Context Several noninvasive tests have been developed for diagnosing bladder outlet obstruction (BOO) in men to avoid the burden and morbidity associated with invasive urodynamics. The diagnostic accuracy of these tests, however, remains uncertain. Objective To systematically review available evidence regarding the diagnostic accuracy of noninvasive tests in diagnosing BOO in men with lower urinary tract symptoms (LUTS) using a pressure-flow study as the reference standard. Evidence acquisition The EMBASE, MEDLINE, Cochrane Database of Systematic Reviews, Cochrane Central, Google Scholar, and WHO International Clinical Trials Registry Platform Search Portal databases were searched up to May 18, 2016. All studies reporting diagnostic accuracy for noninvasive tests for BOO or detrusor underactivity in men with LUTS compared to pressure-flow studies were included. Two reviewers independently screened all articles, searched the reference lists of retrieved articles, and performed the data extraction. The quality of evidence and risk of bias were assessed using the QUADAS-2 tool. Evidence synthesis The search yielded 2774 potentially relevant reports. After screening titles and abstracts, 53 reports were retrieved for full-text screening, of which 42 (recruiting a total of 4444 patients) were eligible. Overall, the results were predominantly based on findings from nonrandomised experimental studies and, within the limits of such study designs, the quality of evidence was typically moderate across the literature. Differences in noninvasive test threshold values and variations in the urodynamic definition of BOO between studies limited the comparability of the data. Detrusor wall thickness (median sensitivity 82%, specificity 92%), near-infrared spectroscopy (median sensitivity 85%, specificity 87%), and the penile cuff test (median sensitivity 88%, specificity 75%) were all found to have high sensitivity and specificity in diagnosing BOO. Uroflowmetry with a maximum flow rate of 10 mm was reported to have similar diagnostic accuracy, with median sensitivity of 68% and specificity of 75%. Conclusions According to the literature, a number of noninvasive tests have high sensitivity and specificity in diagnosing BOO in men. However, although the majority of studies have a low overall risk of bias, the available evidence is limited by heterogeneity. While several tests have shown promising results regarding noninvasive assessment of BOO, invasive urodynamics remain the gold standard. Patient summary Urodynamics is an accurate but potentially uncomfortable test for patients in diagnosing bladder problems such as obstruction. We performed a thorough and comprehensive review of the literature to determine if there were less uncomfortable but equally effective alternatives to urodynamics for diagnosing bladder problems. We found that some simple tests appear to be promising, although they are not as accurate. Further research is needed before these tests are routinely used in place of urodynamics. © 2016 European Association of Urolog

    Group decision support systems in value management

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    Value management (VM) practitioners often encounter problems of lack of active participation and insufficient time and information in decision analysis. The use of a group decision support system (GDSS) is proposed to overcome the above problems by improving the efficiency and effectiveness of VM studies. In order to identify the critical success factors (CSFs) for implementing GDSS in VM studies, an experimental study was conducted to simulate the use of GDSS in VM studies, and then a questionnaire survey was conducted to collect the views of the participants. Factor analysis was used to explore the underlying critical success factors, and the results indicated that certain requirements must be met for the successful application of GDSS in VM studies. In particular, a VM team with an appropriate computer skills mix, and GDSS with good utility were believed to be the most significant underlying factors. Besides these, two other factors, system capabilities and experimental settings, should be also considered in order to achieve a successful application of GDSS in VM studies.Value management, case‐based reasoning, group decision support system, construction briefing, critical success factors,
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