18 research outputs found

    Síndrome de Alport: Alport syndrome

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    Introdução: Síndrome de Alport (SA) é uma doença hereditária caracterizada por nefropatia hemorrágica familiar, surdez neurossensorial e alterações oculares. Sua patologia está relacionada a mutações nos genes COL4A3, COL4A4, COL4A5 os quais são responsáveis por codificar síntese do colágeno tipo IV, que é essencial para a formação da membrana basal de diversos órgãos. Apresentação do caso: 23 ANOS, sexo masculino, natural do Rio de Janeiro - RJ, procurou atendimento médico com queixa de hipoacusia bilateral, diminuição da acuidade visual e edema progressivo de membros inferiores. Discussão: sua clínica é composta por manifestações renais como hematúria e/ou proteinúria, que com o tempo evoluem para falência renal; manifestações oculares, como lentecone anterior, catarata, “flecks” na retina, nistagmo e miopia; e manifestações auditivas nas quais ocorrem o desenvolvimento de perda auditiva neurossensorial de alta frequência.O diagnóstico da síndrome é suspeitado quando existem familiares com histórico de insuficiência renal, surdez e perda visual. Em 15% dos casos, não há histórico familiar associado, sendo necessária a realização de biópsia renal. Conclusão: quando o prognóstico do paciente é desfavorável, é necessário um adequado suporte clínico em medidas preventivas e terapêuticas, tanto farmacológicas quanto dietéticas, para que se possa retardar as complicações, principalmente a piora da função renal e uma necessidade de diálise ou até mesmo transplante dos rins

    Gist ileal: Ileal Gist

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    Introdução: Os tumores estromais gastrointestinais (GISTs) são os tumores mesenquimatosos mais comuns no trato gastrointestinal, podendo acometer qualquer parte do trato gastrointestinal, embora sejam mais frequentemente diagnosticados no estômago. Apresentação do caso:  Paciente do sexo masculino, 63 anos de idade, com uma massa abdominal localizada em região epigástrica descoberta em exame físico e biopsiada através de endoscopia digestiva alta (EDA) realizada em caráter de urgência. Foi confirmado GIST por imuno-histoquímica (CD117) e feita pesquisa em linfonodos, com resultado negativo para acometimento. Realizada a ressecção total do tumor e margens cirúrgicas livres. Discussão: Os tumores estromais gastrointestinais (GIST) possuíam outras denominações que foram sendo modificadas de acordo com as descobertas a respeito desse grupo neoplásico. Inicialmente, acreditava-se que tinham origem na musculatura lisa e, por isso, foram chamados de leiomiomas, leiomiossarcomas e schwannomas. O nome GIST foi estabelecido apenas ao descobrir a origem nas células intersticiais de Cajal, que possuem a expressão de mutação do proto-oncogene codificador do receptor-kit. Aproximadamente 85% dessas neoplasias resultam de mutações ativas nos receptores da proteína tirosina quinase. Conclusão: Seu tratamento é realizado por remoção cirúrgica. Por serem os tumores mais comuns do trato gastrointestinal, devem ser diagnosticados e tratados para melhor sobrevida dos pacientes

    Estratégias de aquisição da casa própria: a trajetória de algumas famílias negras paulistanas nas décadas de 1920 a 1940

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    In Brazil, there is a cultural belief that property acquisition is the wisest attitude to ensure a safe and stable economy. For generations, the "dream of property ownership" has been cultivated as a horizon to be achieved. Confirming this tendency, since the 1920s, "casa propria" (home ownership) became a notion mobilized in the black press periodicals, circulating as a desirable aspiration and an orientation to the journals public. Between 1924 and 1937, two of the main newspapers of São Paulo black press, O Clarim da Alvorada and A Voz da Raça, carried out a campaign in favor of property ownership, spreading among paulista black families the importance of property acquisition. These campaigns are an important sign for the relevance of buying a property for black families at that time. In this paper, we seek to analyze it as an intergenerational social security strategy, through the presentation of three cases of black families that accomplished this goal between 1920s and 1940s. The black families testimonies reported here indicate precocity, specificities and strategies that represent new challenges for the formulation of property ownership problem, from a racial point of view.No Brasil, há uma crença cultural de que a atitude mais sábia para garantir uma economia doméstica segura e estável é a aquisição da casa própria. Por gerações, o “sonho da casa própria” tem sido cultivado como um horizonte a se atingir. Confirmando essa tendência, desde a década de 1920, a “casa própria” torna-se uma noção mobilizada nos periódicos da imprensa negra, circulando em diversos artigos como uma aspiração desejável e uma orientação ao público dos jornais. Entre 1924 e 1937, dois dos principais jornais da imprensa negra paulista, O Clarim da Alvorada e A Voz da Raça, realizaram uma campanha em favor da casa própria, difundindo entre as famílias negras paulistanas a ideia da importância da aquisição imobiliária. Essas campanhas constituem um indício importante da relevância da aquisição residencial para as famílias negras do período. Neste trabalho, procuramos analisar essa importância como estratégia de seguridade social intergeracional, por meio da apresentação de três casos de famílias negras que realizaram esse objetivo entre as décadas de 1920 e 1940. Os depoimentos das famílias negras aqui reportados indicamprecocidade, especificidades e estratégias que representam novos desafios para a reflexão sobre a formulação do problema da casa própria, a partir do ponto de vista racial

    Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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    Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw values of the posterior distribution. Findings: Global health has steadily improved over the past 30 years as measured by age-standardised DALY rates. After taking into account population growth and ageing, the absolute number of DALYs has remained stable. Since 2010, the pace of decline in global age-standardised DALY rates has accelerated in age groups younger than 50 years compared with the 1990–2010 time period, with the greatest annualised rate of decline occurring in the 0–9-year age group. Six infectious diseases were among the top ten causes of DALYs in children younger than 10 years in 2019: lower respiratory infections (ranked second), diarrhoeal diseases (third), malaria (fifth), meningitis (sixth), whooping cough (ninth), and sexually transmitted infections (which, in this age group, is fully accounted for by congenital syphilis; ranked tenth). In adolescents aged 10–24 years, three injury causes were among the top causes of DALYs: road injuries (ranked first), self-harm (third), and interpersonal violence (fifth). Five of the causes that were in the top ten for ages 10–24 years were also in the top ten in the 25–49-year age group: road injuries (ranked first), HIV/AIDS (second), low back pain (fourth), headache disorders (fifth), and depressive disorders (sixth). In 2019, ischaemic heart disease and stroke were the top-ranked causes of DALYs in both the 50–74-year and 75-years-and-older age groups. Since 1990, there has been a marked shift towards a greater proportion of burden due to YLDs from non-communicable diseases and injuries. In 2019, there were 11 countries where non-communicable disease and injury YLDs constituted more than half of all disease burden. Decreases in age-standardised DALY rates have accelerated over the past decade in countries at the lower end of the SDI range, while improvements have started to stagnate or even reverse in countries with higher SDI. Interpretation: As disability becomes an increasingly large component of disease burden and a larger component of health expenditure, greater research and developm nt investment is needed to identify new, more effective intervention strategies. With a rapidly ageing global population, the demands on health services to deal with disabling outcomes, which increase with age, will require policy makers to anticipate these changes. The mix of universal and more geographically specific influences on health reinforces the need for regular reporting on population health in detail and by underlying cause to help decision makers to identify success stories of disease control to emulate, as well as opportunities to improve. Funding: Bill & Melinda Gates Foundation. © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licens

    Predictive Score for Carbapenem-Resistant Gram-Negative Bacilli Sepsis: Single-Center Prospective Cohort Study

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    A clinical–epidemiological score to predict CR-GNB sepsis to guide empirical antimicrobial therapy (EAT), using local data, persists as an unmet need. On the basis of a case–case–control design in a prospective cohort study, the predictive factors for CR-GNB sepsis were previously determined as prior infection, use of mechanical ventilation and carbapenem, and length of hospital stay. In this study, each factor was scored according to the logistic regression coefficients, and the ROC curve analysis determined its accuracy in predicting CR-GNB sepsis in the entire cohort. Among the total of 629 admissions followed by 7797 patient-days, 329 single or recurrent episodes of SIRS/sepsis were enrolled, from August 2015 to March 2017. At least one species of CR-GNB was identified as the etiology in 108 (33%) episodes, and 221 were classified as the control group. The cutoff point of ≥3 (maximum of 4) had the best sensitivity/specificity, while ≤1 showed excellent sensitivity to exclude CR-GNB sepsis. The area under the curve was 0.80 (95% CI: 0.76–0.85) and the number needed to treat was 2.0. The score may improve CR-GNB coverage and spare polymyxins with 22% (95% CI: 17–28%) adequacy rate change. The score has a good ability to predict CR-GNB sepsis and to guide EAT in the future
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