225 research outputs found

    Mortalidade entre Idosos no Estado do Paranå e no município de Foz do Iguaçu

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    Trabalho de ConclusĂŁo da ResidĂȘncia apresentado ao Programa de ResidĂȘncia Multiprofissional em SaĂșde da FamĂ­lia da Universidade Federal da Integração Latino- Americana, como requisito parcial para obtenção do tĂ­tulo de Especialista em SaĂșde da FamĂ­lia na modalidade de residĂȘncia. Orientador: Walfrido Svoboda. (Prof. Dr. do Curso de SaĂșde Coletiva - UNILA) e Coorientadora: Carmen Justina Gamarra. (Profa. Dra. do Curso de SaĂșde Coletiva - UNILA)Objetivo: Analisar a tendĂȘncia da mortalidade entre idosos residentes no estado do ParanĂĄ e no municĂ­pio de Foz do Iguaçu, no perĂ­odo de 2001 a 2012, e mortalidade proporcional por capĂ­tulos CID-10. MĂ©todo: Trata-se de um estudo descritivo, ecolĂłgico de sĂ©rie temporal. Os dados dos Ăłbitos e da população idosa de 60 anos ou mais foram obtidos por meio do Sistema de Informação de mortalidade SIM/DATASUS. Foram calculadas as taxas anuais de mortalidade bruta e padronizadas por sexo e faixa etĂĄria. Para os dados de mortalidade proporcional por capĂ­tulos CID-10 foram calculados os percentuais para os anos selecionados de 2001; 2006; 2011; 2016. As informaçÔes foram tabuladas em planilhas do Excel, sendo construĂ­das tabelas e grĂĄficos e analisados por meio de regressĂŁo linear simples. Resultados: Observou-se tendĂȘncia declinante da mortalidade dos idosos no estado do ParanĂĄ e no municĂ­pio de Foz do Iguaçu. Ao longo do estudo verificou-se que as doenças do aparelho circulatĂłrio constituem-se como a primeira e principal causa de Ăłbito, seguido das neoplasias e doenças do aparelho respiratĂłrio. ConclusĂŁo: No perĂ­odo analisado, a tendĂȘncia da mortalidade padronizadas dos idosos obteve decrĂ©scimo tanto no Estado como no municĂ­pio, sendo observados maiores coeficientes de mortalidade entre os homens quando comparado Ă s mulheres.Objective: To analyze the mortality trend among elderly people living in the state of Para- nĂĄ and in the municipality of Foz do Iguaçu, from 2001 to 2012, and proportional mortality by ICD-10 chapters. Method: This is a descriptive, ecological time series study. Data on deaths and the elderly population aged 60 years and over were obtained using the SIM / Datasus Mortality Infor- mation System. Gross annual mortality rates were standardized and standardized by gen- der and age group. The information was tabulated in Excel spreadsheets, and tables and graphs were constructed and analyzed using simple linear regression. Results: In general terms, a declining trend in mortality among the elderly was observed in the state of ParanĂĄ and in the city of Foz do Iguaçu. Throughout the study it was verified that diseases of the circulatory system constitute the first and main cause of death, fol- lowed by neoplasias and diseases of the respiratory system. Conclusion: In the period analyzed, the general trend of standardized mortality among the elderly decreased both in the state and in the municipality, with higher mortality rates among men when compared to womenObjetivo: Analizar la tendencia de la mortalidad entre ancianos residentes en el estado de ParanĂĄ y en el municipio de Foz do Iguaçu, en el perĂ­odo de 2001 a 2012, y mortali- dad proporcional por capĂ­tulos CID-10. MĂ©todo: Se trata de un estudio descriptivo, eco- lĂłgico de serie temporal. Los datos de mortalidad y de la poblaciĂłn de la tercera edad (mayor de 60años) fueron obtenidos por medio del sistema de informaciĂłn de mortalidad SIM/DATASUS. Fueron calculadas las tasas anuales de mortalidad bruta y estandariza- das por sexo y edad. Las informaciones fueron tabuladas en planillas de cĂĄlculo Micro- soft Excel, siendo construidas tablas, grĂĄficos e analizados por medio de regresiĂłn linear simple. Resultados: En tĂ©rminos generales fue observada la tendencia declinante de la mortali- dad en personas de la tercera edad en el Estado de ParanĂĄ y en el Municipio de Foz de IguazĂș. A lo largo de este estudio, se verifico que las enfermedades del aparato circula- torio se consideran como la primera causa de muerte, seguido por CĂĄncer e enfermeda- des del Aparato Respiratorio. ConclusiĂłn: En el periodo analizado, la tendencia de la mortalidad estandarizada en personas de la tercera edad obtuvo decrecimos tanto en el Estado de ParanĂĄ como en el Municipio, siendo observados mayores coeficientes de mortalidad en hombres compara- do con mujere

    Population pharmacokinetics of colistin and the relation to survival in critically ill patients infected with colistin susceptible and carbapenem-resistant bacteria

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    Objectives: The aim was to analyse the population pharmacokinetics of colistin and to explore the relationship between colistin exposure and time to death. Methods: Patients included in the AIDA randomized controlled trial were treated with colistin for severe infections caused by carbapenem-resistant Gram-negative bacteria. All subjects received a 9 million units (MU) loading dose, followed by a 4.5 MU twice daily maintenance dose, with dose reduction if creatinine clearance (CrCL) 2 mg/L in 94% (195/208) and 44% (38/87) of patients with CrCL ≀120 mL/min, and >120 mL/min, respectively. Colistin methanesulfonate sodium (CMS) and colistin clearances were strongly dependent on CrCL. High colistin exposure to MIC ratio was associated with increased hazard of death in the multivariate analysis (adjusted hazard ratio (95% CI): 1.07 (1.03–1.12)). Other significant predictors included SOFA score at baseline (HR 1.24 (1.19–1.30) per score increase), age and Acinetobacter or Pseudomonas as index pathogen. Discussion: The population pharmacokinetic model predicted that >90% of the patients had colistin concentrations

    Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

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    <p>Abstract</p> <p>Background</p> <p>Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the <it>APC </it>gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations.</p> <p>Methods</p> <p>Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify <it>APC </it>gene mutations, which were correlated to the clinical presentations.</p> <p>Results</p> <p>10 novel <it>APC </it>gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'<it>APC </it>mutation (c.5030_5031insAA) developed colon cancer at age 72 as the first manifestation of attenuated FAP.</p> <p>Conclusion</p> <p>With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel <it>APC </it>mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.</p

    CAG repeat length in the androgen receptor gene is related to age at diagnosis of prostate cancer and response to endocrine therapy, but not to prostate cancer risk

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    The length of the polymorphic CAG repeat in the N-terminal of the androgen receptor (AR) gene is inversely correlated with the transactivation function of the AR. Some studies have indicated that short CAG repeats are related to higher risk of prostate cancer. We performed a case–control study to investigate relations between CAG repeat length and prostate cancer risk, tumour grade, tumour stage, age at diagnosis and response to endocrine therapy. The study included 190 AR alleles from prostate cancer patients and 186 AR alleles from female control subjects. All were whites from southern Sweden. The frequency distribution of CAG repeat length was strikingly similar for cases and controls, and no significant correlation between CAG repeat length and prostate cancer risk was detected. However, for men with non-hereditary prostate cancer (n = 160), shorter CAG repeats correlated with younger age at diagnosis (P = 0.03). There were also trends toward associations between short CAG repeats and high grade (P = 0.07) and high stage (P = 0.07) disease. Furthermore, we found that patients with long CAG repeats responded better to endocrine therapy, even after adjusting for pretreatment level of prostate-specific antigen and tumour grade and stage (P = 0.05). We conclude that short CAG repeats in the AR gene correlate with young age at diagnosis of prostate cancer, but not with higher risk of the disease. Selection of patients with early onset prostate cancer in case–control studies could therefore lead to an over-estimation of the risk of prostate cancer for men with short CAG repeats. An association between long CAG repeats and good response to endocrine therapy was also found, but the mechanism and clinical relevance are unclear. © 1999 Cancer Research Campaig

    Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

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    Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management

    A prototype telepresence robot for use in the investigation of ebola and lassa virus threatened villages in Nigeria

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    The article investigates the idea of low-cost, telepresence-based mobile robots for eventual use within villages and rural areas in Nigeria, where diseases such as the Ebola Virus Disease (EVD) and Lassa Haemorrhagic Fever (LHF) are common, yet human intervention is constrained due to the great risk of transmission through bodily fluids. To illustrate the concept and practical issues arising, a systems design approach is taken to identify some of the engineering requirements; and, in the focus of this article, a prototype has been developed at Lancaster University. The robotic device is semi-humanoid in that the upper half features two 7-DOF manipulators, designed in part to resemble human operation, while the lower half consists of a four-wheeled base, prioritising ease of operation and reliability over the flexibility offered by a leg-based system

    Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

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    We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was pursued but initial investigation revealed no aberrations in the dystrophin gene (DMD), although immunohistochemistry and Western blot analysis suggested the diagnosis of dystrophinopathy. Eventually, after more than 10 years, an RNA analysis captured abnormal splicing where 154 nucleotides from intron 43 were inserted between exon 43 and 44 resulting in a frameshift and a premature stop codon. Normal splicing of the DMD gene was also observed. Additionally, a novel variant c.6291–13537A&gt;G in DMD was confirmed in the genomic DNA of the patient. The predicted function of the variant aligns with the mRNA results. To conclude, we here demonstrate that mRNA analysis can guide the diagnosis of non-coding genetic variants in DMD

    ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura

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    The activity of ADAMTS13, the von Willebrand factor cleaving protease, is deficient in patients with thrombotic thrombocytopenic purpura (TTP). In the present study, the phenotype of ADAMTS13 in TTP and in normal plasma was demonstrated by immunoblotting. Normal plasma (n = 20) revealed a single band at 190 kD under reducing conditions using a polyclonal antibody, and a single band at 150 kD under non-reducing conditions using a monoclonal antibody. ADAMTS13 was not detected in the plasma from patients with congenital TTP (n = 5) by either antibody, whereas patients with acquired TTP (n = 2) presented the normal phenotype. Following immunoadsorption of immunoglobulins, the ADAMTS13 band was removed from the plasma of the patients with acquired TTP, but not from that of normal individuals. This indicates that ADAMTS13 is complexed with immunoglobulin in these patients. The lack of ADAMTS13 expression in the plasma from patients with hereditary TTP may indicate defective synthesis, impaired cellular secretion, or enhanced degradation in the circulation. This study differentiated between normal and TTP plasma, as well as between congenital and acquired TTP. This method may, therefore, be used as a complement in the diagnosis of TTP
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