42 research outputs found

    Measuring the Effect of Revealed Cultural Preferences on Tourism Exports

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    The aim of this article is to propose a novel method for measuring the effect of cultural preference on bilateral tourism receipts. The method applied is inspired from Disdier et al. (2010). Using the UNESCO classification and data on bilateral trade in cultural product, a proxy for cultural preferences is constructed. The variable is used in a gravity model for tourism export, which is estimated using a two-step procedure to avoid issues related to endogeneity. The data set used is a panel of 12 OECD countries for a period of 11 years. The variable for cultural preferences eliminates the problems with traditional methods, which by using dummy variables to account for cultural preferences, assume that the latter are time-invariant and symmetrical. The cultural variable constructed is found to be significant in explaining bilateral tourism exports with an elasticity of 0.39. © The Author(s) 2018

    Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

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    OBJECTIVE: The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease. METHODS: We performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers. RESULTS: A variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset. INTERPRETATION: This study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations. ANN NEUROL 2021;90:82-94

    Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

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    Objective: The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease. // Methods: We performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers. // Results: A variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset. // Interpretation: This study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations

    Diagnostic accuracy of a clinical diagnosis of idiopathic pulmonary fibrosis: An international case-cohort study

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    We conducted an international study of idiopathic pulmonary fibrosis (IPF) diagnosis among a large group of physicians and compared their diagnostic performance to a panel of IPF experts. A total of 1141 respiratory physicians and 34 IPF experts participated. Participants evaluated 60 cases of interstitial lung disease (ILD) without interdisciplinary consultation. Diagnostic agreement was measured using the weighted kappa coefficient (\u3baw). Prognostic discrimination between IPF and other ILDs was used to validate diagnostic accuracy for first-choice diagnoses of IPF and were compared using the Cindex. A total of 404 physicians completed the study. Agreement for IPF diagnosis was higher among expert physicians (\u3baw=0.65, IQR 0.53-0.72, p20 years of experience (C-index=0.72, IQR 0.0-0.73, p=0.229) and non-university hospital physicians with more than 20 years of experience, attending weekly MDT meetings (C-index=0.72, IQR 0.70-0.72, p=0.052), did not differ significantly (p=0.229 and p=0.052 respectively) from the expert panel (C-index=0.74 IQR 0.72-0.75). Experienced respiratory physicians at university-based institutions diagnose IPF with similar prognostic accuracy to IPF experts. Regular MDT meeting attendance improves the prognostic accuracy of experienced non-university practitioners to levels achieved by IPF experts

    Relação entre os níveis de vitamina A e os marcadores bioquímicos do estado nutricional de ferro em crianças e adolescentes Relationship between vitamin A and biochemical markers of iron status in children and adolescents

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    OBJETIVO: Verificar a relação entre vitamina A e os marcadores bioquímicos da situação nutricional do ferro. MÉTODOS: Participaram deste estudo 178 indivíduos com idade entre 7 e 17 anos, residentes na cidade de Jequié (BA). Os indivíduos foram submetidos a exame de sangue para dosagem de retinol e de marcadores bioquímicos do estado nutricional relativo ao ferro. Além disso, foram realizados exames antropométricos, parasitológico de fezes e coletadas informações de consumo dietético de ferro e das condições sócio-ambiental e domiciliar da família. Utilizou-se a análise de regressão linear múltipla como técnica estatística para avaliar a associação de interesse. RESULTADOS: Constatou-se associação positiva e estatisticamente significante entre os níveis de retinol sérico e a concentração de hemoglobina (p=0,007), ferro sérico (p=0,010) e transferrina saturada (p=0,027). Esses efeitos se mantiveram após ajuste dos modelos pelas variáveis demográficas, infecções parasitárias (Schistosoma mansoni, Trichiura trichuris, Ascaris lumbricoides e ancilostomídeos), consumo de ferro alimentar biodisponível e condições ambientais e domiciliares. CONCLUSÃO: A vitamina A parece contribuir para elevar o ferro orgânico da população, em especial, em áreas onde a deficiência de vitamina A e a anemia coexistem.<br>OBJECTIVE: The objective of this study was to verify the relationship between vitamin A and the biochemical markers of iron status. METHODS: A total of 178 individuals aging from 7 to 17 years participated in this study, all living in Jequié, BA. The individuals were submitted to blood tests to dose retinol and biochemical iron markers. Furthermore, anthropometric measurements and stool analyses were done and dietary information regarding iron intake, socio-environmental and home conditions of the family were collected. Multiple linear regression analysis was done to assess the association of interest. RESULTS: A positive and statistically significant association was found between the levels of serum retinol and hemoglobin (p=0.007), serum iron (p=0.010) and iron-saturated tranferrin (p=0.027). These findings remained unchanged after adjusting the models for demographic variables, parasitic infections (Schistosoma mansoni, Trichiura trichuris, Ascaris lumbricoides and ancylostomiasis), consumption of bioavailable dietary iron and environmental and home conditions. CONCLUSION: Vitamin A seems to contribute to the increase of organic iron of the population, especially in areas were deficiency of vitamin A and iron-deficiency anemia coexist
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