Influenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in the Portuguese general population (n = 200) and Central Africans (largely Angolan) (n = 148) as well as its association to influenza severity in Portuguese patients (n = 41). Seven SNPs, within the 352 bp IFITM3 amplicon around rs12252, were identified. SNP distributions in the Portuguese appeared at an intermediate level between the Africans and other Europeans. According to HapMap, rs34481144 belongs to the same linkage disequilibrium (LD) block as rs12252 and is in strong LD with rs6421983. A negative association with severe relative to mild disease was observed for allele rs34481144-A, indicating a protective effect under the dominant model. Moreover, haplotype Hap4 with rs34481144-A, not including rs12252-C, was significantly associated to mild influenza. Conversely, although with borderline significance, haplotype Hap1 with rs34481144-G, not including rs12252-C, was associated to severe disease. Moreover, in comparison to the general Portuguese population, statistical significant differences in the frequencies of the protective allele rs34481144-A in the severe disease group, the deleterious Hap1 in the mild disease group, and the protective Hap4 in the severe disease group were observed. The population attributable risk (PAR) for the targeted rs34481144 allele or genotype was of 55.91 and 64.44% in the general population and the mildly infected individuals, respectively. Implication of these variants in disease phenotype needs further validation, namely through functional analysis as is discussed.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G NC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene (c. -25GN A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.
In this paper, we will analyse the increase of correlations in the market during periods of crisis, given its importance to the management and optimization of the portfolio, and especially for risk diversification in portfolio management. An evaluation of the level of correlation between the stock markets is important for several reasons. First, it enables to evaluate changes in the patterns of correlation, and thus to make the proper adjustments in portfolios’ investment. Second, policy makers are also interested in these correlations because of its implications for the stability of the financial system. The correlation coefficients are biased measures of dependence when markets become more volatile. This paper explores the correlation of the Portuguese capital markets with the Asian, American, European and Latin American Spanish stock markets. To this end, we used the PSI-20 index, Nikkei 225, NASDAQ, S&P 500, Euronext 100 and Ibex-35. Our analysis results show that the correlation does exist as a phenomenon during financial crises (Bear Market), reducing the benefits of portfolio diversification when most needed. Moreover, we believe that correlations have increased between the markets in recent years.
. ABCDExpress. 2017;1(2):670.Instituição: HOSPITAL DE BASE DO DISTRITO FEDERAL Apresentação do caso: paciente feminino, 69 anos, com enterorragia há 2 anos. Comorbidades: hipertensão portal secundária a cirrose hepática por esteatohepatite não alcoólica e esquistossomose, diabetes mellitus tipo 2, hipertensão arterial sistêmica, e antecedentes de hanseníase e dois acidentes vasculares cerebrais. Fazia uso de insulina glargina e Ultra rapida, espironolactona, bisoprolol, lercanidipina, ácido tióctico, atorvastatina, pantozol, amitriptilina, sulfato ferroso e cálcio. Foi internada em março/2017 a fim de otimizar investigação de enterorragia e compensação clínica da anemia (Hb: 5,7mg/dL Ht: 16,8% VCM: 64fL. Realizada videoendoscopia, na qual foram visualizadas varizes de esôfago de fino calibre, sem sinais de cor vermelha, gastropatia congestiva leve, angioectasias em antro e lesões elevadas, erodidas, com hemorragia acentuada (biopsiadas). Colonoscopia não realizada pois a paciente apresentou ataque isquêmico transitório durante o preparo do exame. A análise histopatológica revelou um hemolinfangioma duodenal. Diante da raridade da lesão e das diversas comorbidades da paciente optou-se por tratamento endoscópico com ligadura elástica das lesões. Recebeu alta com melhora dos sintomas, sem nova exteriorização de sangramento e níveis maiores de hemoglobina. Discussão: Hemolinfangiomas são um grupo heterogêneo de más-formações vasculares caracterizadas por dilatação cística de vasos linfáticos, podendo ocorrer em qualquer idade, mas sendo mais comuns na infância e em localizações cutâneas. A maioria é assintomática, ou apresenta hemorragia gastrointestinal indolor, de forma aguda, crônica ou recorrente. O diagnóstico pode ser feito em qualquer idade, porém 90% dos casos são diagnosticados antes dos 2 anos, através do uso métodos endoscópicos como a cápsula endoscópica e a enteroscopia. O tratamento pode ser médico, endoscópico ou cirúrgico. É importante lembrar que 30-40% dos pacientes cirróticos que sangram podem ter etiologia não-varicosa. Comentários finais: o hemolinfangioma é uma rara causa de hemorragia digestiva alta, sendo o seu tratamento individualizado, muitas vezes, a depender das condições do paciente, podendo ocorrer em pacientes cirróticos de maneira isolada ou associada a outras causas. ABCDExpress 2017;1(2):670Codigo: 63250 Acesso está disponível em www.revistaabcd.com.br e www.sbad2017.com.br Acesso pelo
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