A population study on gender and ethnicity differences in gallbladder disease in brazil / Estudo populacional sobre as diferenças de gênero e etnia na doença da vesícula biliar no brasil

ABSTRACT - BACKGROUND: Gallbladder diseases (GBD) are one of the most common medical conditions requiring surgical intervention, both electively and urgently. It is widely accepted that sex and ethnic characteristics mighty influence both prevalence and outcomes. AIM: This study aimed to evaluate the differences on distributions of gender and ethnicity related to the epidemiology of GBD in the Brazilian public health system. METHODS: DATASUS was used to retrieve patients' data recorded under the International Code of Diseases (ICD-10) - code K80 from January 2008 to December 2019. The number of admissions, modality of care, number of deaths, and in-hospital mortality rate were analyzed by gender and ethnic groups. RESULTS: Between 2008 and 2019, a total of 2,899,712 patients with cholelithiasis/cholecystitis (K80) were admitted to the hospitals of the Brazilian Unified Health System, of whom only 22.7% were males. Yet, the in-hospital mortality rate was significantly higher in males (15.9 per 1,000 male patients) than females (6.3 per 1,000 female patients) (p<0.05). Moreover, men presented a significantly higher risk of death (RR=2.5; p<0.05) and longer hospital stay (4.4 days vs. 3.3 days; p<0.05) than females. Compared to females, men presented a higher risk of death across all self-declared ethnic groups: whites (RR=2.4; p<0.05), blacks (RR=2.7; p<0.05), browns (RR=2.6; p<0.05), and Brazilian Indians (RR=2.13; p<0.05). CONCLUSION: In the years 2008-2019, women presented the highest prevalence of hospital admissions for GBD in Brazil, and men were associated with worse outcomes, including all ethnic groups.

RESUMO - RACIONAL: Doenças da vesícula biliar (DVB) são uma das condições médicas mais comuns que requerem intervenção cirúrgica, tanto eletiva como urgente. É amplamente aceito que o sexo e as características étnicas podem influenciar a prevalência e os desfechos. OBJETIVO: Avaliar as diferenças nas distribuições de gênero e etnia relacionados à epidemiologia da DVB no sistema público de saúde brasileiro. MÉTODOS: O DATASUS foi usado para elencar os dados de pacientes registrados no Código Internacional de Doenças (CID-10) sob o código K80, de janeiro de 2008 a dezembro de 2019. O número de admissões, caráter de atendimento, número de óbitos e taxa de mortalidade hospitalar foram analisados por gênero e por etnia. RESULTADO: Entre 2008 e 2019, 2.899.712 pacientes com colelitíase/colecistite (K80) foram admitidos em hospitais do Sistema Único de Saúde (SUS), dos quais apenas 22,7% eram do sexo masculino. Ainda assim, a taxa de mortalidade intra-hospitalar masculina (15,9:1.000 pacientes homens) foi significativamente maior do que a feminina (6,3:1.000 pacientes mulheres) (p<0,05). Ademais, homens apresentaram risco de morte significativamente maior em comparação às mulheres (RR=2,5; p<0,05) e maior tempo de internação hospitalar (4,4 dias versus 3,3 dias; p<0,05). Em comparação ao sexo feminino, homens apresentaram maior risco de morte em todos os grupos étnicos autodeclarados: brancos (RR=2,4; p<0,05), negros (RR=2,7; p<0,05), pardos (RR=2,6; p<0,05) e indígena (RR=2,13; p<0,05). CONCLUSÃO: Nos anos de 2008-2019, as mulheres apresentaram as maiores prevalências de internações hospitalares por DVB no Brasil, porém, os homens foram associados a piores desfechos, inclusive entre todos os grupos étnicos.

Tendência temporal dos anos potenciais de vida perdidos por acidentes de trabalho fatais segundo raça/cor da pele na Bahia, 2000-2019 / Time trend of potential years of life lost due to fatal occupational accidents according to race/skin color in Bahia, 2000-2019

Resumo Introdução: poucos estudos buscam evidenciar as diferenças raciais e o impacto social das mortes precoces decorrentes do trabalho, o que contribui para a inexistência de políticas públicas que objetivem superar essas desigualdades. Objetivo: analisar a tendência temporal das Taxas de Anos Potenciais de Vida Perdidos (TAPVP) decorrentes de acidentes de trabalho, segundo raça/cor da pele no estado da Bahia, de 2000 a 2019. Métodos: estudo de série temporal, com base em dados do Sistema de Informação sobre Mortalidade (SIM); consideraram-se os óbitos por acidentes de trabalho. Empregou-se o modelo de regressão linear pelo método Joinpoint para análise da série temporal e o cálculo da Variação Percentual Anual (VPA) das TAPVP. Resultados: foram notificados 2.137 óbitos por acidentes de trabalho no período estudado, correspondentes a 64.791,5 APVP, dos quais 74,2% envolveram trabalhadores da raça/cor da pele parda. Destaca-se que a VPA das TAPVP entre trabalhadores pardos e negros foi, respectivamente, 2,3 e 3,0 vezes a VPA dos trabalhadores brancos. Os trabalhadores pardos morreram mais precocemente e tiveram maior perda de anos potenciais de vida em quantidade e maior velocidade de crescimento da TAPVP, comparados com os trabalhadores brancos. Conclusão: a mortalidade precoce por acidentes de trabalho representa um relevante problema de saúde pública, destacando-se entre trabalhadores não-brancos.

Abstract Introduction: few studies seek to highlight racial differences and the social impact of early deaths resulting from work, which contributes to the lack of public policies that aim to overcome these inequalities. Objective: to analyze the time trend of Potential Years of Life Lost (PYLL) rates resulting from occupational accidents, according to race/skin color in Bahia, Brazil, from 2000 to 2019. Methods: a time series study was conducted using data collected from the Brazilian Mortality Information System (SIM). Only deaths from work-related accidents were included. Joinpoint linear regression was used to analyze the times series; the PYLL rates were estimated by annual percentage change. Results: the state of Bahia notified 2,137 deaths due to work-related accidents in the studied period, corresponding to a 64,791.5 PYLL, of which 74.2% involved black/brown skin workers. PYLL rates among brown and black workers was, respectively, 2.3 and 3.0 times that of white workers. Brown workers died earlier and had greater loss of PYLL, in quantity, and higher growth speed of the PYLL rates, when compared with white workers. Conclusion: early mortality due to occupational accidents constitute a relevant public health issue, especially among non-white workers.

Impact of COVID-19 in Minas Gerais, Brazil: Excess deaths, sub-notified cases, geographic and ethnic distribution.

By analysing the evolution of the COVID-19 epidemic in the state of Minas Gerais, Brazil, we showed the importance of considering the sub-notification not only of deaths but also of infected cases. It was shown that the largely used criteria of a historical all-deaths baseline are not approachable in this case, where most of the deaths are associated with causes that should decrease due to social distancing and reduction of economic activities. A quite simple and intuitive model based on the Gompertz function was applied to estimate excess deaths and excess of infected cases. It fits well the data and predicts the evolution of the epidemic adequately. Based on these analyses, an excess of 21.638 deaths and 557.216 infected cases is predicted until the end of 2020, with an upper bound of the case fatality rate of around 2.4% and a prevalence of 2.6%. The geographical distribution of cases and deaths and its ethnic correlation are also presented. This study points out the necessity of governmental and private organizations working together to improve public awareness and stimulate social distancing to curb the viral infection, especially in critical places with high poverty.

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechanism of clinical phenotypes, we collected 117 HMBS gene mutations from reported individuals with AIP and evaluated the mutations' impacts on the corresponding protein structure and function. We found that several mutations with most severe clinical symptoms are located at dipyromethane cofactor (DPM) binding domain of HMBS. Mutations on these residues likely significantly influence the catalytic reaction. To infer new pathogenic mutations, we evaluated the pathogenicity for all the possible missense mutations of HMBS gene with different bioinformatic prediction algorithms, and identified 34 mutations with serious pathogenicity and low allele frequency. In addition, we found that gene PPARA may also play an important role in the mechanisms of AIP attacks. Our analysis about the distribution frequencies of the 23 variations revealed different distribution patterns among eight ethnic populations, which could help to explain the genetic basis that may contribute to population disparities in AIP prevalence. Our systematic analysis provides a better understanding for this disease and helps for the diagnosis and treatment of AIP.

Saneamento básico e desigualdades de cor/raça em domicílios urbanos com a presença de crianças menores de 5 anos, com foco na população indígena / Basic sanitation and inequalities in color/race in urban households with under-five children, with a focus on the indigenous population / Saneamiento básico y desigualdades de color/raza en domicilios urbanos con presencia de niños menores de 5 años, centrándose en población indígena

Resumo: Objetivou-se analisar a presença dos serviços de saneamento básico em domicílios com crianças de até cinco anos de idade, localizados em áreas urbanas do Brasil, com foco nos indígenas. Trata-se de um estudo transversal com base na amostra do Censo Demográfico de 2010. Calcularam-se as frequências de domicílios com abastecimento de água (rede geral), esgotamento sanitário (rede geral ou fossa séptica) e coleta de lixo (diretamente ou por caçamba do serviço público de limpeza). Modelos de regressão logística múltipla (RLM) estimaram a associação entre cor/raça e presença dos serviços por meio das razões de chance (RC). Foram consideradas as áreas urbanas e regiões metropolitanas do país, estratificando os resultados por região. Utilizou-se nível de significância de 5%. As menores frequências foram encontradas para esgotamento sanitário e, em geral, para os indígenas. Nas análises de RLM foram 29 comparações (48,3%) em que os domicílios com crianças indígenas, quando comparados às outras categorias de cor/raça, encontram-se em desvantagem, em especial no Sul, onde todas as comparações foram negativas para os indígenas. Resultados semelhantes foram encontrados para as regiões metropolitanas. Nesse sentido, os resultados coligidos por este trabalho sugerem a possível existência de iniquidades relacionadas à presença dos serviços de saneamento básico e cor/raça dos indivíduos, em que os indígenas, em geral, ocupam posição de desvantagem, particularmente no Sul do país. Diante da relação entre saneamento e saúde já estabelecida na literatura, esses resultados podem explicar, em parte, os baixos níveis de saúde apresentados por crianças indígenas no Brasil.

Abstract: This study aimed to analyze the presence of basic sanitation services in households with children under five years of age located in urban areas of Brazil, with a focus on indigenous children. This cross-sectional study was based on data from the 2010 Population Census. We calculated the rates of households with running water (public system), sewage disposal (public system or septic tanks), and garbage collection (directly or via public dumpsters). Multiple logistic regression (MLR) models were used to estimate associations between color/race and presence of sanitation services, based on odds ratios (OR). The study considered Brazil's urban metropolitan areas and stratified the results by major geographic region. Significance was set at 5%. The lowest frequencies were for sewage disposal, and all the rates were lower for indigenous people. MLR analyses included 29 comparisons (48.3%) in which households with indigenous children (compared to other color/race categories) were at a disadvantage, especially in the South of Brazil, where all comparisons were negative for indigenous households. Similar results appeared in metropolitan areas. The results thus suggest inequalities basic sanitation services based on color/race, where indigenous people are generally at a disadvantage, especially in the South of Brazil. Given the relationship between sanitation and health, as already demonstrated in the literature, these results can partly explain the low health levels in indigenous children in Brazil.

Resumen: El objetivo de este trabajo fue analizar la presencia de servicios de saneamiento básico en domicilios con niños de hasta cinco años de edad, localizados en áreas urbanas de Brasil, enfocándose en los de origen indígena. Se trata de un estudio transversal, basado en la muestra del Censo Demográfico de 2010. Se calcularon las frecuencias de domicilios con abastecimiento de agua (red general), alcantarillado (red general o fosa séptica) y recogida de basura (directamente o mediante camiones de basura del servicio público de limpieza). Los modelos de regresión logística múltiple (RLM) estimaron la asociación entre color/raza, y la presencia de los servicios se realizó a través de las razones de oportunidad (RC). Se consideraron áreas urbanas y regiones metropolitanas del país, estratificando los resultados por región. Se utilizó un nivel de significancia del 5%. Las frecuencias menores se encontraron en el alcantarillado y, en general, respecto a los indígenas. En los análisis de RLM se realizaron 29 comparaciones (48,3%) en las que los domicilios con niños indígenas, cuando se comparan con otras categorías de color/raza, se encuentran en desventaja, en especial en el Sur, donde todas las comparaciones fueron negativas en relación con los indígenas. Resultados semejantes se encontraron respecto a las regiones metropolitanas. En ese sentido, los resultados recopilados por este estudio sugieren la posible existencia de inequidades relacionadas con la presencia de los servicios de saneamiento básico y color/raza de los individuos, donde los indígenas, en general, ocupan una posición de desventaja, particularmente en el Sur del país. Ante la relación entre saneamiento y salud, ya establecidos en la literatura, estos resultados pueden explicar, en parte, los bajos niveles de salud presentados por niños indígenas en Brasil.

Classificação de cor/raça de filhos em domicílios indígenas no Brasil / Classification of color/race in children from indigenous households in Brazil / Clasificación de color/raza de hijos en domicilios indígenas en Brasil

Resumo: As investigações sobre os sistemas de classificação racial no Brasil evidenciam as influências de aspectos socioeconômicos na expressão das categorias de cor/raça, com destaque para brancos e negros. O objetivo deste trabalho foi analisar arranjos específicos formados entre pais, mães e filhos em que, pelo menos, um deles era indígena. Com base na amostra do Censo Demográfico de 2010, foram selecionados domicílios com pelo menos três moradores (pai, mãe e filhos), sendo, pelo menos, um indígena. Os filhos foram caracterizados segundo cor/raça (branca, parda e indígena), sexo, idade, renda domiciliar per capita, escolaridade das mães e número de moradores nos domicílios urbanos e rurais. Foram realizadas análises descritivas e regressão logística multinomial. Estimou-se um total de 290.247 filhos (77,1% indígenas, 13,8% pardos e 9,1% brancos), dos quais 74,3% residiam em domicílios rurais e 41,3% na Região Norte; filhos brancos e pardos estavam localizados majoritariamente em áreas urbanas. As chances de os filhos de pais ou mães indígenas terem sido classificados como brancos foram mais expressivas nas regiões Sudeste e Sul. Os filhos apresentaram maiores chances de serem classificados como brancos e pardos com o aumento do rendimento mensal e da escolaridade materna. Os achados demonstram como a posição socioeconômica está associada de forma significativa com os processos de classificação de cor/raça no Brasil, também nos segmentos indígenas da população.

Abstract: Studies on racial classification systems in Brazil reveal the influence of socioeconomic factors in the expression of color/race categories, especially for whites and blacks. The aim of this study was to analyze specific family arrangements between fathers, mothers, and children, at least one of whom was indigenous. Based on the sample from the 2010 Population Census, we selected households with at least three residents (father, mother, and children), at least one of whom was indigenous. Children were characterized according to color/race (white, brown, and indigenous), sex, age, per capita household income, maternal schooling, and number of urban and rural household residents. Descriptive and multinomial logistic regression analyses were performed. We estimated a total of 290.247 children (of whom 77.1% were classified as indigenous, 13.8% brown, and 9.1% white), 74.3% living in rural households and 41.3% in the North region of Brazil; children classified as white and brown were located mostly in urban areas. The odds of children of indigenous fathers or mothers being classified as white were higher in the Southeast and South. The odds of children being classified as white or brown increased proportionally with monthly income and maternal schooling. The findings show that socioeconomic status is significantly associated with color/race classification in Brazil, including in indigenous households.

Resumen: Las investigaciones sobre los sistemas de clasificación racial en Brasil evidencian las influencias de aspectos socioeconómicos en la expresión de las categorías de color/raza, destacando blancos y negros. El objetivo de este trabajo fue analizar núcleos específicos familiares formados por padres, madres e hijos donde, por lo menos, uno de ellos era indígena. A partir de la muestra del Censo Demográfico 2010, se seleccionaron domicilios con por lo menos tres residentes (padre, madre e hijos), siendo, por lo menos, uno indígena. Todos ellos fueron caracterizados según color/raza (blanca, mestiza e indígena), sexo, edad, renta domiciliaria per cápita, escolaridad de las madres y número de residentes en los domicilios urbanos y rurales. Se realizaron análisis descriptivos y una regresión logística multinomial. Se estimó un total de 290.247 hijos (77,1% indígenas, 13,8% mestizos y 9,1% blancos), de los cuales un 74,3% residían en domicilios rurales y 41,3% en la región norte; los hijos blancos y mestizos estaban localizados mayoritariamente en áreas urbanas. Las oportunidades de que los hijos de padres o madres indígenas hayan sido clasificados como blancos fueron más expresivas en las regiones del sudeste y sur. Los hijos presentaron mayores oportunidades de ser clasificados como blancos y mestizos con el aumento de la renta mensual, así como de la escolaridad materna. Los hallazgos demuestran como la posición socioeconómica se asocia de forma significativa con los procesos de clasificación de color/raza en Brasil, también en los segmentos indígenas de la población.

Condições de saneamento e desigualdades de cor/raça no Brasil urbano: uma análise com foco na população indígena com base no Censo Demográfico de 2010 / Sanitation and racial inequality conditions in urban Brazil: an analysis focused on the indigenous population based on the 2010 Population Census

RESUMO: Objetivo: Os objetivos deste estudo foram analisar e descrever a presença da infraestrutura de saneamento básico nas áreas urbanas do Brasil, contrastando os perfis dos domicílios indígenas com os de não indígenas. Métodos: Trata-se de um estudo transversal com base nos microdados do Censo 2010. As análises foram baseadas em estatísticas descritivas (prevalências) e na construção de modelos de regressão logística múltipla (ajustados por covariáveis socioeconômicas e demográficas). Estimaram-se as razões de chance para a associação entre as variáveis explicativas (covariáveis) e de desfecho (abastecimento de água, esgotamento sanitário, coleta de lixo e saneamento adequado). O nível de significância estatística estabelecido foi de 5%. Resultados: Entre os serviços analisados, o esgotamento sanitário mostrou-se o mais precário. Em relação à cor ou raça, os domicílios com responsáveis indígenas apresentaram as menores frequências de presença de infraestrutura sanitária no Brasil Urbano. Os resultados das regressões ajustadas mostraram que, em geral, os domicílios indígenas se encontram em desvantagem quando comparados aos de outras categorias de cor ou raça, especialmente quanto à presença do serviço de coleta de lixo. Essas desigualdades foram de maior magnitude nas regiões Sul e Centro-Oeste. Conclusão: As análises deste estudo não somente confirmam o perfil de precárias condições de infraestrutura de saneamento básico dos domicílios indígenas em área urbana, como também evidenciam a persistência de iniquidades associadas à cor ou raça no país.

ABSTRACT: Objective: The aims of this study were to analyze and describe the presence and infrastructure of basic sanitation in the urban areas of Brazil, contrasting indigenous with non-indigenous households. Methods: A cross-sectional study based on microdata from the 2010 Census was conducted. The analyses were based on descriptive statistics (prevalence) and the construction of multiple logistic regression models (adjusted by socioeconomic and demographic covariates). The odds ratios were estimated for the association between the explanatory variables (covariates) and the outcome variables (water supply, sewage, garbage collection, and adequate sanitation). The statistical significance level established was 5%. Results: Among the analyzed services, sewage proved to be the most precarious. Regarding race or color, indigenous households presented the lowest rate of sanitary infrastructure in Urban Brazil. The adjusted regression showed that, in general, indigenous households were at a disadvantage when compared to other categories of race or color, especially in terms of the presence of garbage collection services. These inequalities were much more pronounced in the South and Southeastern regions. Conclusion: The analyses of this study not only confirm the profile of poor conditions and infrastructure of the basic sanitation of indigenous households in urban areas, but also demonstrate the persistence of inequalities associated with race or color in the country.

Evaluation of Y chromosomal SNP haplogrouping in the HID-Ion AmpliSeq™ Identity Panel.

The Y chromosomal haplogroup determined from single nucleotide polymorphism (SNP) combinations is a valuable genetic marker to study ancestral male lineage and ethical distribution. Next-generation sequencing has been developed for widely diverse genetics fields. For this study, we demonstrate 34 Y-SNP typing employing the Ion PGM™ system to perform haplogrouping. DNA libraries were constructed using the HID-Ion AmpliSeq™ Identity Panel. Emulsion PCR was performed, then DNA sequences were analyzed on the Ion 314 and 316 Chip Kit v2. Some difficulties became apparent during the analytic processes. No-call was reported at rs2032599 and M479 in six samples, in which the least coverage was observed at M479. A minor misreading occurred at rs2032631 and M479. A real time PCR experiment using other pairs of oligonucleotide primers showed that these events might result from the flanking sequence. Finally, Y haplogroup was determined completely for 81 unrelated males including Japanese (n=59) and Malay (n=22) subjects. The allelic divergence differed between the two populations. In comparison with the conventional Sanger method, next-generation sequencing provides a comprehensive SNP analysis with convenient procedures, but further system improvement is necessary.

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes. METHODS: We carried out genetic testing for 58 probands with clinical characteristics of HSP. For historical reasons, three different approaches were followed in different patients: 1) Sanger sequencing of ATL1 and SPAST genes, 2) whole exome, and 3) targeted panel sequencing by next generation sequencing. RESULTS: Genetic diagnosis was established for 20 probands (34.5%). We detected nine previously unreported mutations with high confidence for pathogenicity. The most frequently affected gene was SPAST with pathogenic or likely pathogenic mutations in 10 probands. The most frequently detected variant in our cohort was the SPG7 p.Leu78*, observed in four probands. Altogether five probands were diagnosed with SPG7. Additional mutations were detected in SPG11, ATL1, NIPA1, and ABCD1. CONCLUSION: This is the first comprehensive genetic epidemiological study of patients with HSP in Hungary. Next generation sequencing improved the yield of genetic diagnostics in this disease group even when the phenotype was atypical. However, considering the frequency of the HSP-causing gene defects, SPG4, the most common form of the disease, should be tested first to be cost effective in this economic region.

Hepatitis B virus infection and genotype in asymptomatic people from 10 ethnic groups in Yunnan, China.

AIM: To evaluate the infection and genotype distribution of hepatitis B virus (HBV) in ethnic groups in Yunnan, China. METHODS: Two thousand five hundred and eighty-four asymptomatic local people from 10 ethnic groups were investigated in Yunnan, China. Infection and genotype distribution were evaluated by serological and genetic methods. Genotyping was verified by sequencing. Ethnic genotype distribution was compared by proportion test. RESULTS: Four types of infection model based on HBV serum markers were identified, and the average HBV infection rate was 5.7% in those asymptomatic local people. The genotype prevalence was 59.6% for B, 21.1% for C and 19.3% BC; subgenotypes Ba, Cs and Ce were identified in this study. Hepatitis B surface antigen-positive rate and the proportion of genotype B were significantly lower in ethnic groups with a northern origin compared to those with a southern origin (50% vs 73.9%, P = 0.037; 4.2% vs 10.5%, P = 0.000). CONCLUSION: Genotype B is dominant and genotype BC has high occurrence in asymptomatic local ethnic groups in Yunnan. HBV infection status and genotype distribution may associate with ethnic origin.