RESUMO
To investigate the potential relationship between HLA alleles and haplotypes and the age at diagnosis of type 1 diabetes (T1DAgeD) in an admixed Brazilian population. This nationwide study was conducted in public clinics across 12 Brazilian cities. We collected demographic and genetic data from 1,600 patients with T1D. DNA samples were utilised to determine genomic ancestry (GA) and perform HLA typings for DRB1, DQA1 and DQB1. We explored allele and haplotype frequencies and GA in patients grouped by T1DAgeD categories (<6 years, ≥6-<11 years, ≥11-<19 years and ≥19 years) through univariate and multivariate analyses and primary component analyses. Additionally, we considered self-reported colour-race and identified a familiar history of T1D in first-degree relatives. The homozygosity index for DRB1~DQA1~DQB1 haplotypes exhibited the highest variation among T1DAgeD groups, and the percentages of Sub-Saharan African and European ancestries showed opposite trends in principal component analysis (PCA) analyses. Regarding the association of alleles and haplotypes with T1DAgeD, risk alleles such as HLA-DQB1*03:02g, -DQA1*03:01g, -02:01g, DRB1*04:05g and -04:02g were more frequently observed in heterozygosity or homozygosity in T1D patients with an early disease onset. Conversely, alleles such as DRB1*07:01g, -13:03g, DQB1*06:02g and DQA1*02:01 were more prevalent in older T1D patients. The combination DR3/DR4.5 was significantly associated with early disease onset. However, gender, GA, familiar history of T1D and self-reported colour-race identity did not exhibit significant associations with the onset of T1D. It is worth noting that the very common risk haplotype DRB1*03:01g~DQA1*05:01g~DQB1*02:01g did not differentiate between T1DAgeD groups. In the admixed Brazilian population, the high-risk haplotype DRB1*04:05~DQA1*03:01~DQB1*03:02 was more prevalent in individuals diagnosed before 6 years of age. In contrast, the protective alleles DQA1*01:02g, DQB1*06:02g, DRB1*07:01g and DRB1*13:03g and haplotypes DRB1*13:03g~DQA1*05:01g~DQB1*03:01g and DRB1*16:02g~DQA1*01:02g~DQB1*05:02g were more frequently observed in patients diagnosed in adulthood. Notably, these associations were independent of factors such as sex, economic status, GA, familiar history of T1D and region of birth in Brazil. These alleles and haplotypes contribute to our understanding of the disease onset heterogeneity and may have implications for early interventions when detected in association with well-known genomic risk or protection factors for T1D.
Assuntos
Alelos , Diabetes Mellitus Tipo 1 , Frequência do Gene , Haplótipos , Humanos , Brasil/epidemiologia , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/diagnóstico , Masculino , Feminino , Criança , Adolescente , Adulto , Pré-Escolar , Adulto Jovem , Predisposição Genética para Doença , Cadeias HLA-DRB1/genética , Cadeias alfa de HLA-DQ/genética , Cadeias beta de HLA-DQ/genética , Idade de Início , Lactente , Pessoa de Meia-IdadeRESUMO
Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly diverse genetic pool. This study aimed to analyze the mtDNA of patients with T1D and to investigate whether there is a relationship between maternal ancestry, self-reported color and the presence of T1D. The mtDNA control region of 204 patients with T1D residing in three geographic regions of Brazil was sequenced following the International Society for Forensic Genetics (ISFG) recommendations. We obtained a frequency of Native American matrilineal origin (43.6%), African origin (38.2%), and European origin (18.1%). For self-declared color, 42.6% of the patients with diabetes reported that they were White, 50.9% were Brown, and 5.4% were Black. Finally, when we compared the self-declaration data with maternal ancestral origin, we found that for the self-declared White group, there was a greater percentage of haplogroups of Native American origin (50.6%); for the self-declared Black group, there was a greater percentage of African haplogroups (90.9%); and for the Brown group, there was a similar percentage of Native American and African haplogroups (42.3% and 45.2%, respectively). The Brazilian population with diabetic has a maternal heritage of more than 80% Native American and African origin, corroborating the country's colonization history.
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Slaughterhouse inspections play a crucial role in the sanitary control of zoonoses and foodborne diseases. This study aimed to identify and analyze the frequencies of lymph node diseases in cattle slaughtered for human consumption, using the samples sent to the anatomic pathology service of the Federal Laboratory for Agricultural Defense (Laboratório Federal de Defesa Agropecuária), Minas Gerais, Brazil, from January 2015 to September 2022. In total, 2000 lymph node samples were analyzed, and additional information was individually retrieved. Lesions were most frequently identified in thoracic lymph nodes. Bacterial isolation and quantitative polymerase chain reaction (qPCR) were performed using samples suspected of tuberculosis. Tuberculosis cases accounted for 89.3% of the samples. Histopathology was more sensitive than other ancillary tests for diagnosing tuberculosis. Paraffin-embedded tissues from lymphoma cases were subjected to immunophenotyping using anti-CD3 and anti-CD79a immunohistochemistry. Frozen and/or paraffin-embedded tissues from lymphoma cases were used to identify the enzootic bovine leukosis (EBL) retrovirus through qPCR. Other diagnoses included primary (T- and B-cell lymphoma) and metastatic neoplasms (squamous cell carcinoma, pulmonary adenocarcinoma, undifferentiated carcinoma, undifferentiated adenocarcinoma, undifferentiated sarcoma, undifferentiated round cell tumor, mesothelioma, hepatic carcinoid, meningioma, and seminoma), actinogranulomas (pyogranulomatous lymphadenitis [actinobacillosis and actinomycosis]), idiopathic lymphadenitis (neutrophilic and/or histiocytic, granulomatous, and suppurative), and miscellaneous nonspecific lymphadenopathies (depletion/lymphoid atrophy, lymphangiectasia, erythrocyte drainage, parasitic eosinophilic lymphadenitis, follicular hyperplasia, and toxic granulomatous lymphadenitis). The combination of histopathology with complementary techniques is important for successful diagnosis, especially in complex cases of high epidemiological, economic, and zoosanitary importance, such as tuberculosis and EBL.
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Runting and stunting syndrome (RSS) is an enteric viral disease in commercial poultry that directly affects gut health; however, its influence on gut microbiota remains unknown. This study aimed to investigate the compositional changes in the bacterial community of the ileum of 7-day-old broiler chicks naturally affected or not affected by RSS, using next-generation sequencing (NGS) technology. Twenty-one samples were obtained from the ileal contents and mucosa of 11 chicks with RSS and 10 healthy chicks, raised in a dark house system located on a farm in the state of Minas Gerais, Brazil. The results revealed overall changes in the gut microbiota of the chicks with RSS, including a decrease in microbial richness and diversity. In particular, there was a decrease in Lactobacillus and an increase in Candidatus Arthromitus and Clostridium sensu stricto 1. These results indicate a relationship between viral infection and the gut microbial composition, which can cause gut dysbiosis and may influence inflammation in this organ.RESEARCH HIGHLIGHTS RSS causes dysbiosis of the gut microbiota of the ilea of chicks.A difference was found in gut microbiota between chicks with or without RSS.Candidatus Arthromitus was predominant in chicks with RSS.Clostridium sensu stricto 1 was strictly associated with chicks with RSS.
Assuntos
Galinhas , Microbioma Gastrointestinal , Metagenômica , Doenças das Aves Domésticas , Animais , Galinhas/microbiologia , Galinhas/virologia , Doenças das Aves Domésticas/microbiologia , Doenças das Aves Domésticas/virologia , Brasil/epidemiologia , Disbiose/veterinária , Disbiose/microbiologia , Íleo/microbiologia , Sequenciamento de Nucleotídeos em Larga Escala/veterinária , Transtornos do Crescimento/veterinária , Transtornos do Crescimento/microbiologia , Bactérias/isolamento & purificação , Bactérias/classificação , Bactérias/genéticaRESUMO
RESEARCH HIGHLIGHTS: Peptides + CpG-ODN reduced SH in caeca at the first week post-infection.Administered formulations did not reduce SH-faecal excretion.Levels of intestinal IgA were similar between all groups.CpG-ODN improved some parameters associated with chick intestinal health.
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Doenças das Aves Domésticas , Salmonelose Animal , Salmonella enterica , Animais , Sorogrupo , Salmonelose Animal/prevenção & controle , Salmonelose Animal/microbiologia , Doenças das Aves Domésticas/prevenção & controle , Doenças das Aves Domésticas/microbiologia , GalinhasRESUMO
PURPOSE: Prostate cancer (PCa) is the leading cause of death among men in 48 countries. Genetic alterations play a significant role in PCa carcinogenesis. For the hypothesis of this research, five unique polymorphisms (SNP) were investigated in different genes that showed to be associated in different ways with PCa: rs4430796, rs2735839, rs4792311, rs12329760, and rs28931588, respectively for the genes HNF1B, KLK3, ELAC2, TMPRSS2-ERG, and CTNNB1. PATIENTS AND METHODS: Blood samples from 426 subjects were evaluated: 290 controls (161 females and 129 males) and 136 PCa patients. SNP were determined by real-time polymerase chain reaction. TaqMan SNP genotyping assay. In the control samples, the SNPs were defined in association with the self-reported ethnicity, and in 218 control samples with markers with ancestry indicators. The genes were in Hardy-Weinberg equilibrium. One hundred and seventy control samples were matched by ethnicity for comparison with the PCa samples. RESULTS: The G allele at rs28931588 was monomorphic in both patients and controls studied. Significant differences were observed in allelic and genotypic frequencies between the control and Pca samples in rs2735839 (KLK3; p = 0.002 and χ2 = 8.73 and p = 0.01, respectively), by the global frequency and in the dominant model rs2735839_GG (odds ratio [OR] = 0.51, p = 0.02). AA and GA genotypes at rs4792311 (ELAC2) were more frequent in patients with Gleason 7(4 + 3), 8, and 9 (n = 37%-59.7%) compared to patients with Gleason 6 and 7(3 + 4) (n = 26%-40.0%) conferring a protective effect on the GG genotype (OR = 0.45, p = 0.02). The same genotype showed an OR = 2.71 (p = 0.01) for patients with low severity. The HNF1B-KLK3-ELAC2-TMPRSS2-ERG haplotypes: GAAT, AAAT, GAGT, and AAGT were more frequent in patients with Pca with OR ranging from 4.65 to 2.48. CONCLUSIONS: Higher frequencies of risk alleles were confirmed in the SNPs, KLK3 rs2735839_A, ELAC2 rs4792311_A, and TMPRSS2 rs12329760_T in patients with Pca. Rs2735839_A was associated with risk of Pca and rs4792311_A with severity and Gleason score of 7(4 + 3) or greater. There is a need for careful observation of rs2735839 and rs4792311 in association with the prostatic biopsy due to the increased risk of Pca.
Assuntos
Antígeno Prostático Específico , Neoplasias da Próstata , Masculino , Humanos , Calicreínas/genética , Predisposição Genética para Doença , Neoplasias da Próstata/patologia , Genótipo , Polimorfismo de Nucleotídeo Único , Regulador Transcricional ERG/genética , Fator 1-beta Nuclear de Hepatócito/genética , Proteínas de Neoplasias , beta Catenina/genéticaRESUMO
Introduction: This study aimed to investigate the sociodemographic factors, dietary adherence, regular physical activity, and genomic ancestry percentage associated with good glycemic control in Brazilian patients with type 1 diabetes (T1D) using a hierarchical approach. Methods: A cross-sectional study was conducted in 152 T1D patients. Glycated hemoglobin (HbA1C) levels were measured to evaluate the glycemic control status (good, moderate, or poor). Independent factors included sex, age, self-reported skin color, educational level, family income, dietary patterns, and physical activity. The percentage of genomic ancestry (Native American, European, and African) was influenced by a panel of 46 autosomal insertion/deletion ancestry markers. Statistical analyses included receiver operating characteristic curves, and hierarchical logistic regression analysis. Results: The hierarchical analysis, patients who had high dietary adherence showed a positive association with good glycemic control (adjustedOR = 2.56, 95% CI:1.18-5.59, P = 0.016). Thus, age greater than 40 years was associated with good glycemic control compared to the children and adolescents group (adjustedOR = 4.55, 95% CI:1.14-18.1, P = 0.031). Males were associated with good glycemic control (adjustedOR = 2.00, 95% CI:1.01-4.00, P =0.047). Conclusion: The study findings suggest that consistent adherence to dietary regimens is associated with good glycemic control after adjusting for sociodemographic and genomic ancestry factors in an admixed population of T1D patients from Northeast Brazil.
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Diabetes Mellitus Tipo 1 , Masculino , Adolescente , Criança , Humanos , Adulto , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/complicações , Brasil/epidemiologia , Estudos Transversais , Controle Glicêmico , Genômica , Estilo de Vida SaudávelRESUMO
A violência contra as mulheres tem se apresentado como um grave problema de saúde pública e uma violação aos direitos humanos. A fim de contribuir com a inibição desse fenômeno e intensificar a divulgação da Lei Maria da Penha, surge o Agosto Lilás. Dessaforma, a educação em saúde se apresenta como uma importante estratégia de enfrentamento a esta violência. Objetivo:Descrever a experiência da realização de ação de educação em saúde sobre o enfrentamento à violência doméstica e familiar contra as mulheres em um hospital regional do interior do Rio Grande do Norte (RN), utilizando a Roda de Conversa como metodologia e tendo o Agosto Lilás como referência. Metodologia:Trata-se de um relato de experiência sobre a ação realizada na Clínica Obstétrica de um hospital regional situado no município de Currais Novos, localizado no interior do estado do Rio Grande do Norte, em agosto de 2022. Resultados:Percebeu-se boa participação do público e que os acompanhantes já conheciam alguns tipos de violência. No entanto, as profissionais apresentaram poucos conhecimentos acerca da temática, o que acarreta a desinformação sobre o que fazer quando estas demandas chegarem ao serviço de saúde. Conclusões:É evidente a importância de se trabalhar a temática em diversos momentos, não somente no Agosto Lilás, mesmo este mês se destacando com extrema relevância. Além disso, também é essencial discutir o tema em todos os espaços da rede intersetorial, com intuito de propagar informações e incentivar a articulação em rede para a superação desta problemática (AU).
Violence against women has been presented as a serious public health problem and a violation of human rights. In order tocontribute to the inhibition of this phenomenon and intensify the divulgation of "Maria da Penha" Law, August Lilac comes to light. Thereby, health education is presented as an important strategy of confrontation with this violence. Objective:To describethe experience of fulfillment on health education action on facing the household violence against women in a local hospital in the countryside of Rio Grande do Norte (RN), using the Conversation Circle as a methodology and having August Lilac as a reference. Methodology:This is an experience report on the action executed at the Obstetrics Clinic of a local hospital situated in Currais Novos town, located in the countryside of the state of Rio Grande do Norte, in August 2022. Results:It was observed good public participation and the companions already knew some types of violence. However, the professionals had little knowledge about the subject, which leads to misinformation about what to do when these demands arrive at the health service. Conclusions:It is evident the importance of working on the theme at different times, not only in August Lilac, even this month stands out with extreme relevance. In addition, it is also essential to discuss the topic in all fields of the intersectoral network, with the aim of disseminating information and encouraging networking to overcome this problem (AU).
La violencia contra las mujeres se ha presentado como un grave problema de salud pública yuna violación de los derechos humanos. Con el fin de contribuir a la inhibición de este fenómeno e intensificar la divulgación de la Ley "Maria da Penha", surge el Agosto Lila. De esa forma, la educación en salud se presenta como una importante estrategiade enfrentamiento a esta violencia. Objetivo: Describir la experiencia de la realización de acción de educación en salud sobre el enfrentamiento a la violencia doméstica y familiar contra las mujeres en un hospital regional del interior de Rio Grande do Norte (RN), utilizando la Rueda de Conversación como metodología y teniendo el Agosto Lila como referencia. Metodología: Se trata de un relato de experiencia sobre la acción realizada en la Clínica Obstétrica de un hospital regional situado en el municipio de Currais Novos, ubicado en el interior del estado de Rio Grande do Norte, en agosto de 2022. Resultados: Se percibió buena participación del público y que los acompañantes ya conocían algunos tipos de violencia. Sin embargo, las profesionales presentaronpocos conocimientos sobre la temática, lo que conlleva la desinformación sobre qué hacer cuando estas demandas llegan al servicio de salud. Conclusiones: Es evidente la importancia de trabajar la temática en diversos momentos, no solo en Agosto Lila, incluso este mes destacando con extrema relevancia. Además, también es esencial discutir el tema en todos los espacios de la red intersectorial, con el fin de propagar informaciones y fomentar la conexión en red para superar esta problemática (AU).
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Humanos , Feminino , Educação em Saúde/métodos , Violência Doméstica , Violência contra a Mulher , Violência de Gênero , Serviços de Saúde , Política Pública , Saúde da MulherRESUMO
We aimed to identify HLA-DRB1, -DQA1, and -DQB1 alleles/haplotypes associated with European, African, or Native American genomic ancestry (GA) in admixed Brazilian patients with type 1 diabetes (T1D). This exploratory nationwide study enrolled 1599 participants. GA percentage was inferred using a panel of 46 ancestry informative marker-insertion/deletion. Receiver operating characteristic curve analysis (ROC) was applied to identify HLA class II alleles related to European, African, or Native American GA, and showed significant (p < 0.05) accuracy for identifying HLA risk alleles related to European GA: for DRB1*03:01, the area under the curve was (AUC) 0.533; for DRB1*04:01 AUC = 0.558, for DRB1*04:02 AUC = 0.545. A better accuracy for identifying African GA was observed for the risk allele DRB1*09:01AUC = 0.679 and for the protective alleles DRB1*03:02 AUC = 0.649, DRB1*11:02 AUC = 0.636, and DRB1*15:03 AUC = 0.690. Higher percentage of European GA was observed in patients with risk haplotypes (p < 0.05). African GA percentage was higher in patients with protective haplotypes (p < 0.05). Risk alleles and haplotypes were related to European GA and protective alleles/haplotypes to African GA. Future studies with other ancestry markers are warranted to fill the gap in knowledge regarding the genetic origin of T1D in highly admixed populations such as that found in Brazil.
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Diabetes Mellitus Tipo 1 , Humanos , Diabetes Mellitus Tipo 1/genética , Haplótipos , Alelos , Brasil , GenômicaRESUMO
Fowl aviadenovirus (FAdV) is an important pathogen in the global poultry industry and the etiology of inclusion body hepatitis-hydropericardium syndrome (HHS) in chickens. Since the 1990s, several outbreaks of HHS have occurred in poultry producing areas, including South America. The coinfection of FAdV and chicken anemia virus (CAV) may markedly impact the incidence of HHS. This study describes an outbreak of HHS in coinfection with CAV in industrial broiler breeders and characterizes the FAdV isolate. The three-week-old male broiler breeders had pale bone marrow, enlarged and yellowish liver, splenomegaly, and atrophied thymus; one chicken was also found with hydropericardium. Virus isolation was performed in SPF chicken embryos of liver and thymus. Tissues of the naturally infected chickens and the inoculated embryos were evaluated by PCR and histopathology. All affected chickens and inoculated embryos were positive for FAdV and CAV. The inoculated embryos had enlarged, greenish and hemorrhagic livers, and 30% died within 7 days of inoculation. Phylogenetic analysis of the FAdV isolate hexon gene partial sequence enabled grouping with E species. The E species has recently become a relevant species in several countries. The association of FAdV with CAV in breeders is of further concern due to both being capable of vertical transmission. Within the last decade, a worldwide upsurge of HHS in broiler breeders owing to failed biosecurity has occurred. In this episode, the failure on biosecurity may have enabled challenge with both FAdV and CAV, with pathological synergism. The CAV-impaired adaptive immunity may have benefited the FAdV infection.
Adenovírus aviário (FAdV) é um importante patógeno na indústria avícola global e a etiologia da síndrome da hepatite por corpúsculo de inclusão-hidropericárdio (SHH) em galinhas. Desde a década de 1990, vários surtos de SHH foram descritos em todas as áreas de produção de aves, incluindo na América do Sul, e a coinfecção entre FAdV e vírus da anemia das galinhas (CAV) pode ser agravante para todos os aspectos da SHH. Objetiva-se descrever um surto de SHH em matrizes de frangos corte, caracterizar a estirpe de FAdV envolvida e destacar a coinfecção com CAV. Foram avaliados machos reprodutores de corte com três semanas de idade, com medula óssea pálida, fígado aumentado e amarelado e esplenomegalia, timo atrofiado e um com hidropericárdio. Fígado e timo foram coletados para isolamento do vírus em embriões de galinhas SPF, PCR e histopatologia. Todas as aves acometidas e embriões inoculados foram positivos para FAdV e CAV. Os embriões inoculados tiveram óbito de 30% em até sete dias após a inoculação e alterações hepáticas por fígados esverdeados e aumentados. A análise filogenética de FAdV com base em parte da sequência do gene que codifica a proteína hexon revelou identidade com a espécie E, que se tornou disseminada em vários países. A coinfecção de FAdV e CAV resulta em maior intensidade de lesões, maior morbidade e mortalidade e em reprodutores tem alta relevância epidemiológica, em razão da transmissão vertical de ambos e da ampla distribuição geográfica das progênies infectadas. Na última década, ocorreu um aumento mundial na ocorrência de SHH em frangos de corte relacionado a falhas em biosseguridade, especialmente em reprodutores, condição que pode ter ocorrido neste episódio. A presença de FAdV e CAV em reprodutores é motivo para preocupação por reflexos negativos à imunidade e viabilidade das progênies.