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BACKGROUND: Sexually Transmitted Infections (STIs), such as Human Immunodeficiency Virus (HIV) transmitted by biological, socioeconomic and cultural factors that increase the vulnerability of certain population groups such as civil construction workers. OBJECTIVE: To evaluate the knowledge of workers in the construction industry about infection by HIV and associated factors. METHODS: A cross-sectional, analytical study was conducted, including 381 construction workers, in the cities of João Pessoa, Cabedelo, and Santa Rita, in the State of Paraíba, Brazil, performed through interviews, using a data collection instrument with social demographic variables and the HIV Knowledge Questionnaire. Data were analyzed using descriptive measures, and for comparison between the categories the Kruskal-Wallis test was used, with margin of error of 5%. RESULTS: A predominance of male workers was observed (97.4%) among 381 workers; aged 30-39 (34.1%); married (81.4%); with up to eight years of education (66.6%); family income of up to 2x the minimum wage (52.8%) and coming from the country (43.8%). The average of correct responses was 63.3%, with higher indices (70.0%) related to transmission and forms of prevention. There were higher percentages of hits among those who had studied for 12 years or more. Workers from the capital of Paraíba presented a higher number of correct responses (67.44%). CONCLUSIONS: There is a low index of knowledge of construction workers about HIV, highlighting their consequent vulnerability to acquiring this infection. [ABSTRACT FROM AUTHOR]

Background: Dental Vulnerability Scale (EVO-BR) is an instrument developed to help identifying oral health-vulnerable individuals. This scale comprises 15 items distributed into 4 dimensions. It is the first instrument with the potential to guide clinical and managerial decisions in the oral health field. The aim is to validate a score to enable using EVO-BR in Primary Health Care (PHC). Method: The investigated sample included PHC users in five Brazilian regions. Data were collected at two different stages: in 2019 (São Paulo) and in 2022 (Minas Gerais, Mato Grosso, Roraima, Pernambuco e Paraná). Exploratory descriptive study of this scale scores was carried out to create classification ranges. Subsequently, discriminant analysis was performed to assess the accuracy of the established classification. Boosting regression was carried out to check items' weight for the instrument score. Results: EVO-BR score ranged from 0 (highest vulnerability) to 15 (lowest vulnerability). Four (4) classification configurations were tested. Score equal to 12 points was the one presenting the best classification of the assessed individuals (100% were correctly classified). Boosting regression has evidenced that items 1 and 2 (Overall health domain) and 14 and 15 (Health Services domain) had the strongest influence on this instrument's score. Conclusion: The process to standardize the EVO-BR score and, consequently, to develop assessment ranges, is an important step in the fight against health inequalities, since it provides a tool to help planning actions and interventions aimed at meeting specific needs of the population in the Primary Health Care context. [ABSTRACT FROM AUTHOR]

Background: Social Frailty is a significant public health concern affecting the elderly, particularly with the global population aging rapidly. Older adults with social frailty are at significantly higher risk of adverse outcomes such as disability, cognitive impairment, depression, and even death. In recent years, there have been more and more studies on social frailty, but no bibliometrics has been used to analyze and understand the general situation in this field. Therefore, by using CiteSpace, VOSviewer, and Bilioshiny software programs, this study aims to analyze the general situation of the research on social frailties of the older adults and determine the research trends and hot spots. Methods: A bibliometric analysis was conducted by searching relevant literature on the social frailty of the older adults from 2003 to 2022 in the Web of Science core database, using visualization software to map publication volume, country and author cooperation networks, keyword co-occurrences, and word emergence. Results: We analyzed 415 articles from 2003 to 2022. Brazil has the highest number of articles in the field of social frailty of the older adults, and the United States has the highest number of cooperative publications. Andrew MK, from Canada, is the most published and co-cited author, with primary research interests in geriatric assessment, epidemiology, and public health. "Social Vulnerability," "Health," "Frailty," "Mortality," and "Older Adult" are among the research hotspots in this field. "Dementia," "Alzheimer's disease," "Population," and "Covid-19" are emerging research trends in social frailty among the older adults. Conclusion: This scientometric study maps the research hotspots and trends for the past 20 years in social frailty among the older adults. Our findings will enable researchers to better understand trends in this field and find suitable directions and partners for future research. [ABSTRACT FROM AUTHOR]

Objectives: To examine the extent to which the effect of income inequalities on tooth loss is attributable to differential exposure and susceptibility to heavy drinking in older Brazilian adults. Methods: We conducted a secondary analysis using data from The Brazilian Longitudinal Study of Ageing (ELSI‐Brazil 2015–2016), a nationally representative sample of community‐dwelling people aged 50 years and over. Causal mediation analysis based on the counterfactual outcome framework decomposed the effect of income on tooth loss mediated by heavy drinking into four components (four‐way decomposition): controlled direct effect (neither mediation nor interaction), reference interaction (interaction only), mediated interaction (both mediation and interaction) and pure indirect effect (mediation only). Proportions of effect attributable to each component were calculated to estimate the differential exposure (the sum of the third and fourth components) and differential susceptibility (the sum of the second and third components) to heavy drinking. Results: The analytical sample comprised 8114 participants. After adjusting for covariates, 7.3% (95% CI: 3.8%; 10.9%) and −39.5% (95% CI: −75.8%; −3.3%) of the effects of income on tooth loss were attributable to differential exposure and susceptibility to heavy drinking, respectively, consistent with the alcohol harm paradox. When setting non‐functional dentition as outcome, only the effect of differential susceptibility remained (−81.7% [95% CI: −128.2%; −35.2%]). Conclusion: Our findings suggest that individuals of low‐income groups appear to be more susceptible to the effects of heavy drinking on tooth loss. [ABSTRACT FROM AUTHOR]

Since the discovery of the polymorphic nature of the IFNL4 gene, its variants have been investigated and associated with several viral diseases, with an emphasis on hepatitis C. However, the impacts of these variants on mixed-race and native populations in the northern region of Brazil are scarce. We investigated three variants of the IFNL4 gene in populations from this location, which were among the 14 most frequent variants in worldwide populations, and compared the frequencies obtained to populational data from the 1000 Genomes Project, gnomAD and ABraOM databases. Our results demonstrate that mixed-race and native populations from the northern region of Brazil present frequencies like those of European and Asian groups for the rs74597329 and rs11322783 variants, and like all populations presented for the rs4803221 variant. These data reinforce the role of world populations in shaping the genetic profile of Brazilian populations, indicate patterns of illness according to the expressed genotype, and infer an individual predisposition to certain diseases. [ABSTRACT FROM AUTHOR]

Anthropogenic disturbances affecting forest areas can increase disease prevalence and susceptibility in several species of arboreal mammals, such as sloths. Thus, this study aimed to evaluate the most common conditions in body systems of free-ranging sloths admitted at the Wildlife Triage and Rehabilitation Center of Amazonas of the Institute of Environment and Renewable Natural Resources. A total of 227 individuals (139 retrospective cases from 2015 to 2019, and 88 prospective cases from July 2020 to July 2021) were evaluated over a six-year period. Cases from the genus Bradypus showed involvement of the following body systems: 44% respiratory, 29% integumentary, 15% musculoskeletal, 5% digestive, 3% visual, 2% auditory, 1% circulatory and 1% genitourinary, while that distribution in the genus Choloepus was: 39% musculoskeletal, 27% integumentary, 19% respiratory, 9% digestive, 3% circulatory, 1% visual, 1% auditory and 1% genitourinary. The results reveal significant differences between the condition detected and the genus (Bradypus and Choloepus), age and case outcome. These results can provide data for future investigations of sloth diseases, confirming lesions, as well as motivating and suggesting adequate management methods. [ABSTRACT FROM AUTHOR]

Mango anthracnose disease (MAD) is a destructive disease of mangoes, with estimated yield losses of up to 100% in unmanaged plantations. Several strains that constitute Colletotrichum complexes are implicated in MAD worldwide. All mangoes grown for commercial purposes are susceptible, and a resistant cultivar for all strains is not presently available on the market. The infection can widely spread before being detected since the disease is invincible until after a protracted latent period. The detection of multiple strains of the pathogen in Mexico, Brazil, and China has prompted a significant increase in research on the disease. Synthetic pesticide application is the primary management technique used to manage the disease. However, newly observed declines in anthracnose susceptibility to many fungicides highlight the need for more environmentally friendly approaches. Recent progress in understanding the host range, molecular and phenotypic characterization, and susceptibility of the disease in several mango cultivars is discussed in this review. It provides updates on the mode of transmission, infection biology and contemporary management strategies. We suggest an integrated and ecologically sound approach to managing MAD. [ABSTRACT FROM AUTHOR]

The limited scion-rootstock combinations used in sweet orange orchards in Brazil reduce the commercial potential of citrus and lead to greater susceptibility to pests and diseases. Aiming to provide germplasm diversification, the research evaluated the Folha Murcha (FM) and Charmute de Brotas (CB) orange trees grafted onto 'Rangpur' lime (RL) and 'Swingle' citrumelo (SC) rootstocks. The study was conducted in the southern center of the state of São Paulo, in the subtropical region of southeastern Brazil. The grafted trees were planted in September 2016. The field experiment was conducted over two seasons. The combinations were evaluated based on the duration in days and degree-days of the phenological intervals, growth and yield performance, alternate bearing, fruit ripening, and quality. The trees of the two scion cultivars grafted onto RL had the shortest crop cycle, the earliest fruit ripening, and the largest canopy volume. SC produced fewer alternate bearings with greater production efficiency. The CB/SC combination produced fruits with a better color index, higher total soluble solids content, and a higher technological index. This assessment can be useful in planning orchards for dual-purpose markets, such as table fruit and the juice industry. [ABSTRACT FROM AUTHOR]

Introduction: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset. Methods: A total of 116 patients were screened for nine mutations in FANCA, FANCC, FANCG. Those with no mutations were investigated by multiplex ligation‐dependent probe amplification (MLPA) and Sanger sequencing for FANCA, FANCC, FANCE, FANCF, FANCG, FANCD1/BRCA2. Results: Genetic subtype was identified in 107/116 (78 FA‐A, 8 FA‐C, 13 FA‐G, 8 FA‐E), with only one mutation in 1/116, and no mutations in 9/116 patients. Before hematopoietic cell transplantation (HCT), malignancies were detected in 16/116 patients (14/78 FA‐A, 01/08 FA‐C, 01/08 FA‐E), and 12 of them were hematological. Observed to expected ratio (O/E) of hematologic malignancy was 303.7 (95% CI = 148.6–458.7). Conclusion: This study allowed the identification of biallelic mutations in 91.4% of patients. FANCG and FANCC mutations had significantly earlier bone marrow failure onset, and FANCG severe cytopenia at diagnosis. Despite the inherent limitations of the small number of malignancy events in each genetic subtype, the hematologic malignancies O/E ratio was very high. Cumulative incidence of malignancy before HCT was higher in the third and fourth decades of life, considering HCT and death as competing risks. The cumulative incidence of HCT increased during the first decade, competing with malignancy development. [ABSTRACT FROM AUTHOR]

Copyright of Revista Colombiana de Biotecnología is the property of Universidad Nacional de Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Rev Rene is the property of Rev Rene and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Habitat fragmentation and infectious diseases threaten wildlife globally, but the interactions of these threats are poorly understood. For instance, while habitat fragmentation can impact genetic diversity at neutral loci, the impacts on disease-relevant loci are less well-studied. We examined the effects of habitat fragmentation in Brazil's Atlantic Forest on amphibian genetic diversity at an immune locus related to antigen presentation and detection (MHC IIB Exon 2). We used a custom high-throughput assay to sequence a fragment of MHC IIB and quantified Batrachochytrium dendrobatidis (Bd) infections in six frog species in two Atlantic Forest regions. Habitat fragmentation was associated with genetic erosion at MHC IIB Exon 2. This erosion was most severe in forest specialists. Significant Bd infections were detected only in one Atlantic Forest region, potentially due to relatively higher elevation. In this region, forest specialists showed an increase in both Bd prevalence and infection loads in fragmented habitats. Reduced population-level MHC IIB diversity was associated with increased Bd infection risk. On the individual level, MHC IIB heterozygotes exhibited a trend toward reduced Bd infection risk, although this was marginally non-significant. Our results suggest that habitat fragmentation increases Bd infection susceptibility in amphibians, mediated at least in part through erosion of immunogenetic diversity. Our findings have implications for management of fragmented populations in the face of emerging infectious diseases. [ABSTRACT FROM AUTHOR]

Objective: The aim of the study was to phenotypically investigate the expression of the enzyme Klebsiella pneumoniae carbapenemase (KPC) in a Proteus mirabilis sample resistant to carbapenems, isolated from the wound of a patient with a venous leg ulcer (VLU) treated at an outpatient referral service. Method: This was a case study conducted with a patient who had a VLU on the lower left limb. Samples were taken for the examination of microbiological material from the patient's wound, using an aseptic technique. The colonies extracted were submitted to Gram staining and biochemical tests to identify the strain. In addition, an antimicrobial susceptibility test, E-test and a modified Hodge test were performed. Results: The identified microorganism was Proteus mirabilis, which showed resistance to cefuroxime and the carbapenems imipenem and meropenem. As well as the minimum inhibitory concentration (MIC) of 3.0μg/ml for imipenem, demonstrating resistance, there was no KPC production by the tested isolate, which presented a negative modified Hodge test. Conclusion: The results highlight the importance of microbiological surveillance, aimed at reducing morbidity and mortality rates associated with infection by multiresistant bacteria. [ABSTRACT FROM AUTHOR]

The present study is a descriptive-documental study that evaluates a survey database about Brazilian Jiu-Jitsu (BJJ) practitioners and concussions. We investigate any relationship between lifetime practice and the incidence of concussions in adults. For this, an online survey composed of 17 questions was sent to 42 BJJ coaches. The Survey Monkey platform was used to host the survey. Some demographic data was collected, followed by questions related to the BJJ practice. A total of 791 practitioners had completed or partially answered the survey. The results show that concussions are more frequent at the beginner's white 49.0% and blue belt 33.3% (p≤ 0.01). The symptom "seeing stars" showed a positive and significant correlation (r= 0.169, p≤ 0.002) with a white and blue belt. After a concussion, white and blue belts return faster than the others (χ2= 190.964; p≤ 0.01). White, blue, and purple belts are the least likely to seek medical care after a concussion (χ2= 14.874; p≤ 0.01). Together, our results showed the need for an educational intervention with the BJJ coaches and beginners regarding awareness about concussions and possible post-traumatic issues and creating procedures to deal with concussions in BJJ. [ABSTRACT FROM AUTHOR]

Despite advances in obstetric medicine, the pathogenesis of preeclampsia (PE) remains poorly understood. It has been suggested that PE results from a state of sympathetic hyperactivity with circulating catecholamines increased in this condition. A new enzyme, called Renalase, has recently been identified exhibiting activity on the metabolism of catecholamine and blood pressure reduction when administered in vivo. Thus, this study was conducted to evaluate the possible association between the presence of the Renalase gene (RNLS) (rs10887800) polymorphism and mechanisms that control the pathogenesis of PE. This was a cross-sectional, quantitative, case-control study with 94 pregnant women with PE (cases) and 97 normotensive pregnant women (controls). A standardized form was used to collect demographic and clinical data; oral scraping samples were collected, and DNA extraction and subsequent real-time polymerase chain reaction (PCR) were conducted to evaluate the presence of rs10887800. In terms of genotypic distribution and frequency of alleles, no significant association was observed between the rs10887800 polymorphism and development of PE, or with its severe form. However, the GG genotype was associated with a trend of higher risk of PE (GG vs. AG + AA: OR = 2.16, 0.97-4.86, p = 0.05). Hence, the rs10887800 polymorphism could not be determined as a predisposing factor for PE susceptibility or severity in the studied population. [ABSTRACT FROM AUTHOR]

Several researchers have attempted to develop coffee plants that are resistant to brown eye spot (BES); however, no coffee cultivars are resistant to the disease. In the present study, a blend of strains from Cercospora coffeicola was inoculated into 19 Brazilian commercial cultivars and 41 accessions from the Germplasm Collection of Minas Gerais to evaluate the genetic resistance ability within the population and select superior genotypes for the breeding program. After predicting the genotypic values of the estudied material, the evaluations number necessary for selecting genotypes with accuracy and efficiency was determined based on the data of severity to BES. The action of defense mechanisms plant was also investigated by assessing the levels of total soluble phenolic compounds and soluble lignin in contrasting genotypes for disease susceptibility. Based on the results, the accession MG 1207 Sumatra, had an intrinsic genetic capacity to maintain low levels of severity to BES. The genotype MG 1207 Sumatra can substantially contribute to the development of new cultivars, which may lead to the reduced use of pesticides. According to the accuracy and efficiency results obtained, four evaluations BES severity are sufficient to achieve accuracy, providing expressive genetic gains. Finally, the levels of lignin and phenolic compounds were not found to be associated with the resistance of coffee genotypes to BES. [ABSTRACT FROM AUTHOR]

Background: Cattle are susceptible to chronic leptospirosis infection, that results in reduced milk production and reproductive disorders such as abortions, stillbirths, fetal malformation, and mummified fetuses, causing significant economic losses. Commercially available vaccines against leptospirosis offer limited protection to cattle because they contain only the most prevalent serovars worldwide, even though they are not prevalent in the specific region. This study aimed to evaluate the prevalence of specific antibodies against Leptospira serogroups, reproductive disorders and the risk factors in dairy herds from different mesoregions of Rio Grande do Sul State, Southern Brazil. Materials, Methods & Results: An epidemiological survey was conducted, and serum samples from the bovine population representative of three mesoregions (MR1, MR2, and MR3) were studied; the samples were collected and tested for leptospirosis using the microscopic agglutination test (MAT) for 12 serogroups checking for the presence of agglutination. A total of 442 blood samples were collected from dairy cattle from November to December 2019 (MR1, 187; MR2, 88; and MR3, 167), including cows vaccinated with different commercial vaccines during the three months before sample collection (n = 295) and non-vaccinated against leptospirosis (n = 147). At the time of collection, an interview was conducted with the owners with questions about the health of the animals, management, habitat, feeding and reproduction. Chi-square tests univariate analysis with the SPSS® version 20.0 were performed to estimate the association of serogroup Djasiman seroreactivity with the occurrence of reproductive problems and related risk factors. The mean prevalence of antibodies against leptospires was 78.7% (MR1, 74.9 %; MR2, 84.1 %; and MR3, 80.2 %). Serogroup prevalence was different in each mesoregion evaluated and varied with vaccination status tested of the animals. The most prevalent serogroups in MR1 were Djasiman and Icterohaemorrhagiae. In MR2 and MR3, Djasiman was the most prevalent serogroup, regardless of vaccination status. Other prevalent serogroups in vaccinated animals were Icterohaemorrhagiae (MR1), Sejroe (MR2), Pomona, Sejroe, and Icterohaemorrhagiae (MR3). The other serovars tested had a prevalence of less or equal than 2%. The occurrence of reproductive problems with abortions and estrus repetition, was associated with reactivity to the serogroup Djasiman (P > 0.05). The results showed that the access of animals to flooded areas and the presence of rodents were significant risk factors, according to the literature. Discussion: The prevalence of antibodies against Leptospira in the studied areas was higher than expected, with a high prevalence of Djasiman serogroup. It is important to note that this serogroup is not present in current vaccine formulations. The presence of wetlands and rodents as risk factors in association with Djasiman is consistent with the scientific literature, since wild rodents are natural hosts, and swampy areas may allow Leptospira to survive for up to 180 days in the environment. Due to the presence and high prevalence found of the serogroup Djasiman in the experiment, new studies are being carried out to improve our knowledge about this serogroup and its possible inclusion in a commercial vaccine. Prophylaxis and control measures were recommended to rural producers in the analyzed properties. [ABSTRACT FROM AUTHOR]

Background: This study aimed to determine the prevalence and factors associated with susceptibility to hepatitis B virus (HBV) among cisgender men who have sex with men (MSM) on HIV pre-exposure prophylaxis (PrEP) in Northeastern Brazil., Methods: This was a cross-sectional, analytical study conducted between September 2021 and June 2023. Participants underwent structured interviews to collect sociodemographic and clinical information, including hepatitis B vaccination history, HIV PrEP use and sexual health history. Blood samples were collected for hepatitis B serologic testing: HBV surface antigen (HBsAg), HBV surface antibody (anti-HBs), total and IgM HBV core antibody (anti-HBc). HBV susceptibility was defined as nonreactive results for all these serological markers., Results: A total of 287 participants were enrolled into the study. The median age of the individuals was 31 years (interquartile range: 27; 36). HBV susceptibility was found in 58 out 286 individuals (20.3%; 95% CI: 15.9-25.2). Seventy-six percent of the participants reported completing the three-dose hepatitis B vaccine schedule. Susceptibility was significantly associated with a monthly income ≤ 5 minimum wages (PR: 2.02; 95% CI: 1.01-4.05), lack of complete hepatitis B vaccination schedule (PR: 4.52; 95% CI: 2.89-7.06), initiation of HIV PrEP (PR: 2.18; 95% CI: 1.21-3.94), duration of six months of HIV PrEP (PR: 2.16; 95% CI: 1.19-3.91), absence of tattoos (PR: 1.55; 95% CI: 1.00-2.40) and no history of sexually transmitted infections (PR: 1.65; 95% CI: 1.07-2.54)., Conclusion: Our findings highlight the significant burden of HBV susceptibility among MSM on HIV PrEP in Northeastern Brazil. Socioeconomic factors, vaccination status, PrEP use and sexual health behaviors play critical roles in determining susceptibility to HBV. Integrating hepatitis B screening and vaccination into PrEP services is critical for identifying and addressing HBV susceptibility among MSM. Interventions aimed at increasing vaccination coverage and promoting safer sexual practices are essential for mitigating the burden of HBV infection in this population., (© 2024. The Author(s).)

Copyright of Avances en Enfermería is the property of Editorial Universidad Nacional de Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background Chagas disease is an infectious disease caused by the parasite Trypanosoma cruzi and is endemic from Latin American countries. The goal of our study was to identify novel genetic loci associated with chronic Chagas cardiomyopathy development in Chagas disease patients from different Latin American populations. Methods We performed a cross-sectional, nested case-control study including 3 sample collections from Colombia, Argentina, and Bolivia. Samples were genotyped to conduct a genome-wide association study (GWAS). These results were meta-analyzed with summary statistic data from Brazil, gathering a total of 3413 Chagas disease patients. To identify the functional impact of the associated variant and its proxies, we performed an in silico analysis of this region. Results The meta-analysis revealed a novel genome-wide statistically significant association with chronic Chagas cardiomyopathy development in rs2458298 (OR = 0.90, 95%CI = 0.87–0.94, P-value  = 3.27 × 10-08), nearby the SAC3D1 gene. In addition, further in silico analyses displayed functional relationships between the associated variant and the SNX15 , BAFT2, and FERMT3 genes, related to cardiovascular traits. Conclusions Our findings support the role of the host genetic factors in the susceptibility to the development of the chronic cardiac form of this neglected disease. [ABSTRACT FROM AUTHOR]

Background: We took advantage of the 2015-2016 Brazilian arbovirus outbreak (Zika [ZIKV]/dengue/chikungunya viruses) associated with neurological complications to type HLA-DRB1/DQA1/DQB1 variants in patients exhibiting neurological complications and in bone marrow donors from the same endemic geographical region.Methods: DRB1/DQA1/DQB1 loci were typed using sequence-specific oligonucleotides. In silico studies were performed using X-ray resolved dimer constructions.Results: The DQA1*01, DQA1*05, DQB1*02, or DQB1*06 genotypes/haplotypes and DQA1/DQB1 haplotypes that encode the putative DQA1/DQB1 dimers were overrepresented in the whole group of patients and in patients exhibiting peripheral neurological spectrum disorders (PSD) or encephalitis spectrum disorders (ESD). The DRB1*04, DRB1*13, and DQA1*03 allele groups protected against arbovirus neurological manifestation, being underrepresented in whole group of patients and ESD and PSD groups. Genetic and in silico studies revealed that DQA1/DQB1 dimers (1) were primarily associated with susceptibility to arbovirus infections; (2) can bind to a broad range of ZIKV peptides (235 of 1878 peptides, primarily prM and NS2A); and (3) exhibited hydrophilic and highly positively charged grooves when compared to the DRA1/DRB1 cleft. The protective dimer (DRA1/DRB1*04) bound a limited number of ZIKV peptides (40 of 1878 peptides, primarily prM).Conclusion: Protective haplotypes may recognize arbovirus peptides more specifically than susceptible haplotypes. [ABSTRACT FROM AUTHOR]

During March 2016, leaf blight, followed by death, was observed on yard-long bean plants (Vigna unguiculata subsp. sesquipedalis) in Brazil. Based on morphological characteristics and phylogenetic analysis, the pathogen was identified as Rhizoctonia solani AG-1 IA. Koch's postulates were fulfilled. All accessions studied were classified as susceptible. This is the first report of Rhizoctonia solani AG1-IA infecting yard-long bean. [ABSTRACT FROM AUTHOR]

Obesity has reached epidemic proportions worldwide, affecting life quality and span. Susceptibility to obesity is partly mediated by genetic differences. Indeed, several genes from the clock gene family have already been shown to be intimately associated with obesity in diverse ethnic groups. In the present study, an association between BMI and the rs707467 , rs228697 and rs228729 PER3 (Period Circadian Clock 3) polymorphisms in subjects with class II (BMI ≥ 35.0–39.9 kg/m2) and class III obesity (>40 kg/m2, extreme obesity) were carried out using TaqMan real-time PCR. Overall, 259 Brazilian adults were genotyped, of whom 122 had class II or III obesity (BMI ≥ 35.0 kg/m2) and 137 were controls having normal weight (BMI > 18.5 and <24.9 kg/m2). PER3 tag SNP (rs228729) shows a significant association with extreme obesity (1000 permutation p = 0.03 and p = 0.04), for genotype and allele frequency respectively) and a haplotype among the three assessed SNPs (alleles G/T/A, rs228697 , rs228729 , and rs707467 , respectively, 1000 permutation p = 0.03) was significantly more prevalent in the group with obesity. This exploratory association study suggests that PER3 rs228729 may be associated with extreme obesity in Brazilian adults, however, replication is needed. [ABSTRACT FROM AUTHOR]

Purpose: The establishment of candidate genetic determinants associated with tuberculosis (TB) is a challenge, considering the divergent frequencies among populations. The objective of this study was to evaluate the association between MIF − 794 CATT 5−8 polymorphism and susceptibility to TB. Methods: Case–control study. Patients > 18 years, with pulmonary TB were included. The control group consisted of blood donors and household contacts, not relatives, healthy and > 18 years. MIF − 794 CATT 5−8 were genotyped using sequencing of PCR and capillary electrophoresis. Results: 126 patients and 119 controls were included. The genotype 5/5 was more frequent among cases (15.1%) than in controls (5.9%) (p = 0.019). Cases had more frequently the allele 5 (29.4%) as compared with controls (19.3%) (p = 0.010). Prevalence of 7/X + 8/X genotypes was not different between cases and controls (p = 0.821). There was no difference between patients with alleles 7 and 8 and those with alleles 5 and 6 (p = 0.608). Conclusions: The genotype 5/5 and the allele 5 of MIF − 794 CATT 5−8 were more frequent among TB patients than in controls. [ABSTRACT FROM AUTHOR]

Background: Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients. In this context, we explored a pan-cancer panel in the investigation of germline variants in Brazilian patients presenting clinical criteria for hereditary cancer syndromes or familial history.Methods: Seventy-one individuals diagnosed or with familial history of hereditary cancer syndromes were submitted to custom pan-cancer panel including 16 high and moderate penetrance genes previously associated with hereditary cancer syndromes (APC, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MSH2, MSH6, MUTYH, PTEN, RB1, RET, TP53, VHL, XPA and XPC). All pathogenic variants were validated by Sanger sequencing.Results: We identified a total of eight pathogenic variants among 12 of 71 individuals (16.9%). Among the mutation-positive subjects, 50% were diagnosed with breast cancer and had mutations in BRCA1, CDH1 and MUTYH. Notably, 33.3% were individuals diagnosed with polyposis or who had family cases and harbored pathogenic mutations in APC and MUTYH. The remaining individuals (16.7%) were gastric cancer patients with pathogenic variants in CDH1 and MSH2. Overall, 54 (76.05%) individuals presented at least one variant uncertain significance (VUS), totalizing 81 VUS. Of these, seven were predicted to have disease-causing potential.Conclusion: Overall, analysis of all these genes in NGS-panel allowed the identification not only of pathogenic variants related to hereditary cancer syndromes but also of some VUS that need further clinical and molecular investigations. The results obtained in this study had a significant impact on patients and their relatives since it allowed genetic counselling and personalized management decisions. [ABSTRACT FROM AUTHOR]

In the Northeast Brazil (NEB), the impacts of climate extreme events such as severe droughts are aggravated by poverty and poor socioeconomic conditions. In this region, such events usually result in the spread of endemic diseases, problems in water distribution, and agricultural losses, often leading to an increase in the population's vulnerability. Thus, this study aims to evaluate the microregions of the Rio Grande do Norte (RN) state, in the NEB, according to the Epidemiological Index for Drought Vulnerability (EIDV). We mapped and classified the microregions according to three dimensions of vulnerability: risk, susceptibility, and adaptive capacity. We also verified potential associations between drought risk and epidemiological vulnerability. The EIDV was calculated by considering the three dimensions of vulnerability as mutually exclusive events and applying the third axiom of probability. Then we carried out a cluster analysis in order to classify the microregions according to similarities in the EIDV. Odds ratio were also calculated in order to evaluate the odds of microregions having a high susceptibility to diseases and high vulnerability given the drought risk. Results showed that the Pau dos Ferros, Seridó Ocidental, Seridó Oriental, and Umarizal microregions were the most vulnerable, while Natal and Litoral Sul were the least vulnerable. Regarding the dimensions of vulnerability, we observed that almost the entire RN state exhibited high drought risk. Pau dos Ferros and Umarizal had the highest susceptibility and Litoral Nordeste presented the worst adaptive capacity to the effects of drought on health. The EIDV revealed that the population of the RN state needs improvements in living conditions and health, since socioeconomic status is one of the factors that most influence the vulnerability of microregions, which in turn is aggravated by drought risk [ABSTRACT FROM AUTHOR]

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Purpose: To investigate the association between interleukin-6 (IL-6) G174C polymorphism and susceptibility to peri-implant disease (PID) and/or chronic periodontitis (CP), in Brazilian subjects. Materials and Methods: A total of 103 Brazilian patients were submitted to peri-implant and periodontal examination. According to their peri-implant characteristics, patients were divided into: group A (healthy, n = 52), group B (peri-implant mucositis, n = 20), and group C (peri-implantitis, n = 31). All patients (n = 103) were also characterized as healthy periodontium patients without CP (HP, n = 60) or CP patients (CP, n = 43). DNA was extracted from buccal cells, and the IL-6 G174C polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism. Differences in the prevalence of genotypes and alleles between healthy and ill patients were analyzed by chi-square test (P < .05), considering PID, CP, and PID+CP. Results: Results considered the presence of PID and/or CP in all patients. The CC genotype was the least common in all groups. The chi-square test showed no significant correlation between genotypes. However, the odds ratio showed that individuals with GG genotype and allele G were 1.53 and 1.43 times more susceptible to PID, respectively. The risk of presenting CP was increased in patients with GG genotype and allele G 1.35 and 1.24 times, respectively. When both diseases were evaluated together, patients with GG genotypes and allele G were 1.75 and 1.50 times more likely to present PID and CP together. When PID was evaluated without CP, patients with allele G were 2.08 times more susceptible to PID. Conclusions: The frequency of the genotype IL-6 174GG and allele G was different between healthy and ill groups. Therefore, this genotype may be a common risk factor for both CP and PID in Brazilian populations. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to correlate possible predisposing and protective factors involved with autoimmune diseases (ADs) in a Brazilian microregion. Methods: This case-control study recorded 362 cases of ADs prevalent in the Águas Formosas microregion, state of Minas Gerais, Brazil, between January and December 2016, through the application of a questionnaire. Overall, 724 controls were randomly selected according to gender and age. Logistic regression was used to calculate the adjusted odds ratio (OR), confidence interval, and P-value to compare the strength of association between the variables of interest assessed. Results: Individuals with Graves’ disease (OR: 11.9977), followed by rheumatoid arthritis (RA), psoriasis, lupus, Hashimoto’s thyroiditis (HT), and vitiligo, were strongly associated with the risk of developing the disease after the hepatitis B vaccine. Having consumed cow milk before 6 months of life was a factor associated only with psoriasis (OR: 0.3321) and RA (OR: 0.2880). Type 1 diabetes patients were associated only with surgical procedures (OR: 0.1160), just as physical and psychological traumas were associated only with vitiligo (OR: 5.9848). Contact with chemicals was more related to vitiligo (OR: 0.7142), RA, psoriasis, lupus, and thyroiditis. Physical exercise was the most significant protective factor for vitiligo (OR: 0.4904), followed by HT, RA, psoriasis, and lupus; and the consumption of filtered water with candles was a protective factor for vitiligo (OR: 0.3325). Conclusion: The associations suggest that predisposing and protective factors for ADs play a pivotal role in their onset, enabling health management, control, and intervention of this population. [ABSTRACT FROM AUTHOR]

Background: Frontal fibrosing alopecia (FFA) is a lymphocytic scarring alopecia whose worldwide incidence is rising. Environmental triggers combined with genetic predisposition represent one of the current hypotheses in FFA aetiology. Familial clusters are opportunities to investigate the genetic basis of diseases. Objectives: Assess human leucocyte antigen (HLA) genetic variability in a Brazilian sample of a large familial cluster (six sisters and one daughter) with FFA, unnafected familiar members and sporadic cases of FFA. Methods: We addressed the HLA‐A, HLA‐B, HLA‐C, HLA‐G and HLA‐E genetic variability in this family and in seven sporadic FFA cases, comparing allele frequencies with those reported for the São Paulo State from Brazil. Results: Two susceptibility haplotypes, C*17:01:01:02/B*42:01:01:01 and C*07:02:01:03/B*07:02:01:01, were identified among familial cases and also in sporadic cases. The first haplotype is rare among Brazilians, and it was not previously reported as being associated with FFA. Both alleles were found in some different unaffected familiars, what emphasizes the role of environmental triggers in disease development. HLA‐A, HLA‐G and HLA‐E genes were not associated to familiar nor FFA sporadic cases. Conclusion: The identification of susceptibility haplotypes in FFA reinforces the genetic predisposition to the disease. [ABSTRACT FROM AUTHOR]

Many countries, including Brazil, are facing growing social inequalities in diabetes prevalence. The different states in Brazil represent different levels of development and by comparing diabetes inequalities across states we aim to get a better understanding of how educational inequalities in diabetes are linked to social development. We use the latest cross-sectional national health survey of Brazil – PNS-2013 (N = 60,202) and analyse the disparities in diabetes as well as the differential exposure and susceptibility to the effect of obesity across states for men and women. Among women in high-HDI states the prevalence of diabetes is 11.7 percentage units (CI: 9.3; 14.0) higher among the lowest compared to the highest educated. In less-developed states the disparity is smaller. Among men, there is no social gradient found for diabetes, but obesity is positively associated with education. The association between obesity and diabetes is stronger among the low educated particularly for men in high-HDI states. Here the interaction effect between low education and obesity is 11.7 (CI 8.1; 15.4) percentage units. The fact that economic development is associated with increasingly unequal levels of diabetes and with unequal levels of exposure and susceptibility to obesity indicates that other interacting determinants are important for the development of the diabetes epidemic in Brazil. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate the potential role of the PTGS2 single nucleotide polymorphisms (SNPs) -1195 A>G and +8473 T>C in endometriosis' development, and characterizing their association with the prognostic features of the disease.Study Design: DNA from 254 women with endometriosis and 267 controls, recruited from two reference hospitals from the Brazilian public health system, were genotyped using TaqMan allelic discrimination assays. The association between SNPs and endometriosis features was evaluated by multivariate logistic regression, using the adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI).Results and Conclusion: There were significant differences between cases and controls regarding age (P < 0.001), body mass index (BMI) (P = 0.001), educational level (P < 0.001), physical activity (P = 0.003), smoking status (P < 0.001), contraception use (P = 0.02), family history of endometriosis (P = 0.002) and all symptoms (P < 0.001). The distribution of -1195 A > G was statistically different between the groups, suggesting a lower risk of developing the disease for the carriers of the -1195 GG genotype (OR = 0.19; 95% CI = 0.04 - 0.93). No differences were found for the +8473 T>C between the two groups and neither in prognostic features of the disease for both PTGS2 SNPs. In conclusion, PTGS2 -1195A>G SNP was negatively associated with development of endometriosis and the two groups were statistically different regarding age, BMI, educational level, physical activity, smoking status, contraception use, history of endometriosis and all endometriosis symptoms. [ABSTRACT FROM AUTHOR]

Background & Aim: To investigate the association between the genetic polymorphisms FokI (rs2228570) and BglI (rs739837) in vitamin D receptor (VDR) with dental caries and gingivitis susceptibility. Design: This study included 353 Brazilian children (8 to 11 years old). Dental caries was assessed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingival bleeding using Community Periodontal Index (CPI). The presence of visible biofilm was also evaluated. DNA was extracted from saliva, and real‐time PCR was used to evaluate genetic polymorphisms in VDR: rs2228570 (FokI, A>G/Met>Thr) and rs739837 (BglI, G>T). Dental caries was evaluated as a continuous data (mean and standard deviation‐SD) and was also categorized (ICDAS0versus ICDAS1‐6 or ICDAS1‐2versus ICDAS3‐6). Gingivitis was categorized in with and without. One‐way ANOVA was used for comparisons of caries among genotypes. Chi‐square test, logistic regression, and haplotype analysis were performed (P <.05). Results: Biofilm was associated with dental caries susceptibility and gingivitis (P <.05). The mean distribution of the caries lesions and cavitated caries lesions among FokI and BgII genotypes were not statistically significant (P >.05). Genotype distributions among caries groups (in the two different cut‐offs) and among gingivitis and non‐gingivitis groups were not statistically significant (P >.05). Conclusion: The polymorphisms FokI and BglI in VDR were not associated with dental caries or gingivitis. [ABSTRACT FROM AUTHOR]

Following the emergence of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), the number of visceral leishmaniasis-HIV (VL-HIV) coinfections has increased worldwide, mainly in Brazil. The development of clinical forms of VL can be influenced by nutritional status, age, and host genetic factors, which are important variables determining susceptibility to disease. There are no studies with a candidate gene approach assayed directly in the VL-HIV-coinfected population. Herein, we determined and analyzed the associations of SLC11A1, LECT2, CCL1, CCL16, and IL4 genetic polymorphisms with susceptibility to VL-HIV coinfection in Northeastern Brazil. We analyzed 309 DNA samples extracted from the peripheral blood of HIV patients, and clinical and hematological data were collected from medical records. The diagnosis of VL was confirmed in 110 out of 309 patients; genotyping was carried out by TaqMan assays afterwards. Our results confirmed the association between the SLC11A1 polymorphism (rs3731865) and VL-HIV coinfection (p = 0.0206, OR 1.8126, 95% CI 1.1050–2.9727). In addition, the SLC11A1 genotype GG (p = 0.0050, OR 3.0395, 95% CI 1.4065–6.5789) and CD4+ T lymphocyte count (p = 0.0030, OR 0.9980, 95% CI 0.9970–0.9990) were associated with VL-HIV coinfection in a multivariate model. The polymorphism of the SLC11A1 gene (rs3731865) was associated with VL-HIV coinfection, suggesting a possible genetic mechanism involved in the susceptibility to VL in HIV patients. This finding can suggest new therapeutic targets and genetic markers for the VL-HIV-coinfected population. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the association of leptin rs7799039 and adiponectin rs2241766 gene polymorphisms on daily sleep duration in 4-5-year-old children.Methods: Data were obtained from the Predictors of Maternal and Infant Excess Body Weight - PREDI Study, a cohort study conducted in Joinville - Brazil. The current study is a cross-sectional study, which was carried out in the homes of the participants between July 2016 and August 2017. Total sleep time was self-reported by the mothers. The average total sleep time was classified according to the recommendation of the National Sleep Foundation for children aged 3-5 years: ≥10 or <10 h of sleep/day. Genotyping analysis was performed in blood samples by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique.Results: Of the 216 children included in the study, 167 (77.3%) and 49 (22.7%) had ≥10 and <10 h of sleep/day, respectively. There was a significant decrease in the average total sleep time as the number of risk alleles of the two polymorphisms increased (LEP: GG = 11 h18, GA = 10 h42, AA = 10 h15; ADIPOQ: TT = 11 h00, TG + GG = 10 h28). Interaction analysis showed a progressive increase in the odds of children sleeping <10 h/day at preschool age with an increasing number of risk alleles of the LEP and ADIPOQ polymorphisms (OR = 7.44, 95%CI, 2.45-22.55).Conclusions: We found a progressive increase in the odds of 4-5 year old children sleeping less than 10 h/day as the number of risk alleles of the LEP-rs7799039 and ADIPOQ-rs2241766 polymorphisms increased, even after adjustment for other maternal and child characteristics. [ABSTRACT FROM AUTHOR]

Background: The mannose-binding lectin (MBL2) and nitric oxide synthase 3 (NOS3) genes are associated with the immune response against inflammatory processes, have been reported as possibly related with premature birth. Until now, most of the researches regarding the genetic influence of prematurity have revealed limited results because only investigating the child or the mothers' genotypes, thus not exploring the possible effects of interactions between these genotypes or the interactions with environmental factors related to the duration of pregnancy.Objective: We performed a replica study investigating the influence of single nucleotide polymorphisms (SNPs) in MBL2 and NOS3 genes on premature birth, also considering socioeconomic, demographic, and gestational factors.Materials and methods: We conducted a case-control study with 189 mother-infant dyads, with 104 spontaneous preterm births and 85 term births from Recife, Brazil. We used peripheral blood samples and umbilical cord samples to extract DNA. Functional SNPs at exon 1 and promoter region of MBL2 and NOS3 RS1799983 SNP were genotyped using direct sequencing and fluorescent allelic specific TaqMan® assays respectively. Data were analyzed using the Statistical Package for the Social Sciences (SPSS®) program with bivariate association and logistic multivariate regression tests.Results: We observed a prevalence of MBL2 wild-type genotype in the mother-infant dyad of the preterm group and polymorphic genotype in the mother-infant dyad of term birth. The haplotype LYA predominated in our sample, being more frequent in the preterm group, while the haplotype LYB, correlated with lower levels of MBL protein, was more frequent in the term birth group. About NOS3 RS1799983 SNP, the G/G genotype was more frequent throughout the sample. The heterozygous genotype predominated among women from the preterm group, showed a borderline difference between the groups. When MBL2 genotypes of the mother and son were analyzed together, codon 54 of MBL2 remained associated with prematurity. When the variables with p value lower than .20 in the bivariate analysis were analyzed by logistic regression, the low weight of the pregnant woman in relation to the gestational age, the occurrence of preterm premature rupture of membranes, urinary tract infection during birth and maternal history of other premature births were risk factors to prematurity. On the other hand, the presence of B allele at codon 54 of maternal MBL2 was a protective factor for the occurrence of spontaneous premature birth. In contrast, a borderline association was established between the maternal genetic variation within NOS3 gene and the outcome studied.Conclusions: Our study, limited by the small number of patients enrolled, indicates that MBL2 and NOS3 functional SNPs are associated with the occurrence of spontaneous prematurity and the regulation of the maternal inflammatory response. Despite these results are in agreement with previously reports, our findings do not replicate the ones reported in a large genome-wide association study performed on quite high number of subjects. Thus, we can conclude that MBL2 and NOS3 functional SNPs are plausible candidate risk factors just in few preterm birth cases, and consequently they cannot be included in the general diagnostic practice. [ABSTRACT FROM AUTHOR]

Objective: to know the predisposition for Burnout Syndrome in the nursing team of the Mobile Emergency Care Service (SAMU). Methodology: exploratory, descriptive study performed with 08 nurses and 11 nursing technicians from SAMU of Sobral- Ceará. The Chafic Jbeli Burnout Preliminary Identification Questionnaire, the Maslach Burnout Inventary (MBI) and a sociodemographic and professional questionnaire were used. Project approved by the Committee of Ethics in Research with Human Beings. Results: most professionals present low level of emotional exhaustion; moderate level for depersonalization; and high level of reduced professional achievement, evidencing a predisposition to Burnout Syndrome. Conclusion: the SAMU nursing team is predisposed to Burnout Syndrome, and it is essential to address the stressors of Nursing and to adopt preventive measures to reduce work stress. [ABSTRACT FROM AUTHOR]

Yellow fever has never previously been reported in transplant recipients. The first reported case of yellow fever in a kidney transplant recipient in Brazil and the re-emergence of arboviruses in many areas of the world dictate the need of studies aimed to answer multiple unanswered questions. [ABSTRACT FROM AUTHOR]

Purpose. Since cytomegalovirus retinitis (CR) is an important cause of visual impairment among AIDS patients and HLA-C alleles have been associated with AIDS disease outcome, we typed HLA-C locus in patients with AIDS exhibiting or not CR. Methods. Three groups of individuals were studied: (i) 49 patients with AIDS and CR (Group I), (ii) 161 patients with AIDS without CR (Group II), and (iii) 202 healthy HIV-negative individuals (Group III). HLA-C typing was performed using commercial kits. Results. The HLA-C∗07 allele group was underrepresented in AIDS patients with CR (P=0.005) when compared to controls or when compared to AIDS patients without CR (P=0.006). The HLA-C∗05 allele group was overrepresented in Group II in comparison to Group III (P=0.017). The frequency of the HLA-C∗16 allele group was increased in Group III in comparison to Group II (P=0.004). Conclusion. The HLA-C∗07 allele group conferred protection against the development of CR in Brazilian AIDS patients, whereas the HLA-C∗05 and HLA-C∗16 allele groups were associated with AIDS susceptibility or protection, respectively. [ABSTRACT FROM AUTHOR]

Abstract: Background: The frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB). Methods: We typed DQA1*05 ‐ DQB1*02 (DQ2.5) and DQA1*03 ‐ DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR‐SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 ‐ DQB1*02). Results: Among the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR‐SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2. Conclusion: 43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA‐DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2. [ABSTRACT FROM AUTHOR]

Aim: To investigate whether the -1082A > G polymorphism (rs1800896) in the interleukin-10 (IL10) gene is associated with diabetic retinopathy (DR) in Brazilians with type 2 diabetes mellitus.Methods: This case-control study included 847 outpatients with type 2 diabetes and 145 healthy blood donors. Four hundred and two patients had no DR, 253 had non-proliferative DR (NPDR), and 192 had proliferative DR (PDR). Genotyping was done by real-time PCR.Results: Genotype and allele frequencies were similar in patients and blood donors. In relation to the presence and severity of DR, the AA genotype was overrepresented among patients with NPDR, whereas the GG genotype was more frequent among patients with PDR. Multiple logistic regression analysis showed that the AA genotype was independently associated with increased risk of NPDR, after controlling for duration of diabetes, body mass index, and insulin use (adjusted OR = 1.50; 95% CI = 1.04-2.17). The GG genotype, however, did not remain associated with increased risk of PDR (adjusted OR = 1.49; 95% CI = 0.78-2.86).Conclusions: This study identified, for the first time, an independent association of the -1082A > G polymorphism in the IL10 gene with NPDR in type 2 diabetes. This finding provides additional evidence supporting that genetic variants of IL10 are involved in the pathogenesis of DR. [ABSTRACT FROM AUTHOR]

Karyotype (KT) aberrations are important prognostic factors for acute myeloid leukemia (AML); however, around 50% of cases present normal results. Single nucleotide polymorphism array can detect chromosomal gains, losses or uniparental disomy that are invisible to KT, thus improving patients' risk assessment. However, when both tests are normal, important driver mutations can be detected by the use of next-generation sequencing (NGS). Fourteen adult patients with AML with normal cytogenetics were investigated by NGS for 19 AML-related genes. Every patient presented at least one mutation: DNMT3A in nine patients; IDH2 in six; IDH1 in three; NRAS and NPM1 in two; and TET2, ASXL1, PTPN11, and RUNX1 in one patient. No mutations were found in FLT3, KIT, JAK2, CEBPA, GATA2, TP53, BRAF, CBL, KRAS, and WT1 genes. Twelve patients (86%) had at least one mutation in genes related with DNA methylation (DNMT3A, IDH1, IDH2, and TET2), which is involved in regulation of gene expression and genomic stability. All patients could be reclassified based on genomic status and nine had their prognosis modified. In summary, NGS offers insights into the molecular pathogenesis and biology of cytogenetically normal AML in Brazilian patients, indicating that the prognosis could be further stratified by different mutation combinations. This study shows a different frequency of mutations in Brazilian population that should be confirmed. [ABSTRACT FROM AUTHOR]

Background. Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of FOXE1 gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of FOXE1 gene on the risk of thyroid dysgenesis. Method. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing. Results. More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis. Conclusion. PolyA of FOXE1 gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease. [ABSTRACT FROM AUTHOR]

This study was conducted to evaluate the epidemiological profile of leprosy in the city of Ilheus, Bahia in the period from 2010 to 2014. Leprosy is considered an infectious disease highly pathogenic and of low infectivity, caused by the bacillus Mycobacterium leprae (ML). It is anillness surrounded of a strong social stigma and demonstrates predilection for skin and peripheral nerves. Its prevalence is taken as significantly high in many municipalities in Bahia, being this study relevant.It is an epidemiological survey, whose methodology was a quantitative descriptive analysis, based on secondary data collection, using as source the Notification System and Diseases - SINAN and Epidemiological Surveillance of the municipality in order to characterize the clinical forms of the disease and its prevalence in patients as to age, race, educational leves and years. It was sought to know the incidence of leprosy, analyzing the data obtained from the bodies responsible for the report and the disease control. It is worthy highlighting that leprosy is curable and that the earlier the diagnosis is made, the simpler the treatment that is available on the networks of NHS public health and the chances of reduced sequelae. It was observed that young adults individuals of working age formed the most susceptible group to contamination by leprosy and that the predominant forms were borderline and tuberculoid. Less educated individuals were also most affected suggesting that education and access to information can be the best forms of prevention. [ABSTRACT FROM AUTHOR]

Background: The tumor protein p53 (TP53) arginine-to-histidine mutation at codon 337 (R337H) predisposes children to adrenocortical tumors (ACTs) and, rarely, to other childhood tumors, but its impact on adult cancer remains undetermined. The objective of this study was to investigate the frequency and types of cancer in relatives of children with ACT who carry the TP53 R337H mutation.Methods: TP53 R337H testing was offered to relatives of probands with ACT. The parental lineage segregating the R337H mutation was identified in all families. The frequency and distribution of cancer types were compared according to R337H status. The authors' data also were compared with those publicly available for children with TP53 mutations other than R337H.Results: The mean and median follow-up times for the probands with ACT were 11.2 years and 9.7 years (range, 3-32 years), respectively. During this time, cancer was diagnosed in 12 of 81 first-degree relatives (14.8%) carrying the R337H mutation but in only 1 of 94 noncarriers (1.1%; P = .0022). At age 45 years, the cumulative risk of cancer was 21% (95% confidence interval, 5%-33%) in carriers and 2% (95% confidence interval, 0%-4%) in noncarriers (P = .008). The frequency of cancer was higher in the R337H segregating lineages than in the nonsegregating lineages (249 of 1410 vs 66 of 984 individuals; P < .001). Breast and gastric cancer were the most common types.Conclusions: TP53 R337H carriers have a lifelong predisposition to cancer with a bimodal age distribution: 1 peak, represented by ACT, occurs in the first decade of life, and another peak of diverse cancer types occurs in the fifth decade. The current findings have implications for genetic counseling and surveillance of R337H carriers. Cancer 2017;123:3150-58. © 2017 American Cancer Society. [ABSTRACT FROM AUTHOR]

Engaging recent social science work examining the truth making claims of science and biomedicine, this paper explores how biology is being localised in Brazilian cancer genetics. It draws from ethnographic fieldwork in urban regions of southern Brazil working with and alongside patients, families and practitioners in cancer genetic clinics. It examines how different sorts of ‘local biologies’ are articulated in the context of research, clinical practice and among implicated patient communities and the way these can ‘recursively’ move across different spheres and scales of social action to extend and transform the meaning of the biological. It shows how the mattering of the biological in Brazilian cancer genetics is fundamentally informed by questions of inequity and care, even while multiple local biologies may obscure rather than reveal the biopolitics of cancer. In an era of epigenetics this raises new opportunities and challenges for anthropological analysis as intervention. [ABSTRACT FROM PUBLISHER]

We characterized extended-spectrum β-lactamases (ESBL) enzymes among Salmonella strains isolated in Brazil from 2009 to 2014. Salmonella recovered from both clinical and nonhuman (food, poultry, and environment) sources were subjected to antimicrobial susceptibility testing. β-lactamases genes were detected by polymerase chain reaction/sequencing; plasmid profiles and transferability were assessed by S1-pulsed field gel electrophoresis (PFGE). Genetic diversity was evaluated by XbaI-PFGE. Out of 630 Salmonella strains screened, 46 displayed ESBL phenotype, distributed across 11 different serotypes. blaCTX-M-8 and blaCTX-M-2 genes were detected at frequencies of 47% and 41%, respectively. blaSHV-5 and blaSHV-2 were also detected but in lower frequencies (4%, 2%). blaTEM-1 gene was detected in 22% of the strains. Most of the ESBL genes were transferable by conjugation, and the respective blaESBL gene was detected in the recipient strain, indicating the location of ESBL determinants on transferable plasmids. XbaI-PFGE revealed genomic diversity of Salmonella Typhimurium bearing blaCTX-M-2, blaCTX-M-8, blaTEM-1, and blaSHV-2 genes. Salmonella Muenchen (harboring blaCTX-M-2) and Salmonella Corvallis ( blaCTX-M-8 and blaSHV-5) showed clonal relatedness within respective serotypes. Our findings underscore the occurrence of diverse ESBL genes in several Salmonella serotypes, reinforcing the need for continuous surveillance of resistance genes circulating in human and nonhuman sources. [ABSTRACT FROM AUTHOR]

Background: Contextual factors shape the risk of acquiring human immunodeficiency virus (HIV) and syphilis. We estimated the prevalence of both infections among indigenous people in nine indigenous health districts of the Brazilian Amazon and examined the context of community vulnerability to acquiring these infections. Methods: We trained 509 health care workers to screen sexually active populations in the community for syphilis and HIV using rapid testing (RT). We then assessed the prevalence of HIV and syphilis using RT. A multivariable analysis was used to identify factors associated with syphilis infection (sociodemographic, condom use, intrusion, population mobility, and violence). Results: Of the 45,967 indigenous people tested, the mean age was 22.5 years (standard deviation: 9.2), and 56.5% were female. Overall, for HIV, the prevalence was 0.13% (57/43,221), and for syphilis, the prevalence was 1.82% (745/40,934). The prevalence in men, women, and pregnant women for HIV was 0.16%, 0.11%, and 0.07%, respectively, and for syphilis, it was 2.23%, 1.51%, and 1.52%, respectively. The district Vale do Javari had the highest prevalence of both infections (HIV: 3.38%, syphilis: 1.39%). This district also had the highest population mobility and intrusion and the lowest availability of prenatal services. Syphilis infection was independently associated with age (odds ratio [OR] 1.04, 95% confidence interval [CI]: 1.03-1.05), male sex (OR 1.32, 95% CI: 1.14-1.52), and mobility (moderate: OR: 7.46, 95% CI: 2.69-20.67; high: OR 7.09, 95% CI: 3.79-13.26). Conclusions: The large-scale integration of RT in remote areas increased case detection among pregnant women, especially for syphilis, in districts with higher vulnerability. Mobility is an important risk factor, especially in districts with higher vulnerability. Contextually appropriate approaches that address this factor could contribute to the long- term success of HIV and syphilis control programs. [ABSTRACT FROM AUTHOR]