Sample Of Brazilian Population Research Articles

Age estimation by volumetric analysis of teeth using cone beam computed tomography.

To evaluate the feasibility of using the pulp volume (Pv) to total volume (Tv) ratio (Pv:Tv), obtained from cone beam computed tomography (CBCT) scans of single-rooted teeth, for age estimation in a Brazilian population sample. After obtaining approval from the ethics committee, the study commenced by applying inclusion criteria to screen CBCT scans, resulting in a probability-based sample of participants aged 18years and older (ranging from 18 to 82years, with a mean age of 46.44years). A total of 517 single-rooted teeth, including maxillary central incisors (CI), mandibular canines (C), and mandibular first premolars (FP), were chosen based on excellent agreement values (> 0.9). Pv and Tv measurements were conducted using semi-automatic segmentation with ITK-SNAP 3.8 software. Statistical analysis was performed using Jamovi software, with a significance level set at 5% (α = 0.05). A strong negative correlation (r > -0.7) was observed between chronological age and the Pv:Tv ratio across all examined teeth. However, when conducting regression analysis with Pv:Tv data and chronological age as the independent variable, only the mandibular FP teeth exhibited a normal distribution. The resulting linear model demonstrated moderate predictive value (approximately 64%) in explaining the variance in chronological age, but caution should be exercised when interpreting these findings. The method of measuring individual tooth volume using CBCT to estimate chronological age via Pv:Tv has been demonstrated as effective and reproducible within the Brazilian population sample.

Health inequity assessment in Brazil: is EQ-5D-3L sensible enough to detect differences among distinct socioeconomic groups?

BackgroundMultidimensional health-related quality of life (HRQOL) instruments, such as the EQ-5D, are increasingly used to assess inequalities in health. However, it is necessary to explore the ability of these instruments to capture differences between population groups, especially in low/middle-income countries. This study aimed to investigate whether the EQ-5D-3L instrument can detect differences in HRQOL between groups of different socioeconomic status (SES) in Brazil.MethodsData collection occurred during the Brazilian EQ-5D-3L valuation study and included respondents aged 18 to 64 years enrolled in urban areas. SES was aggregated into three categories: “higher” (A and B), “intermediate” (C) and “lower” (D and E). EQ-5D-3L index was calculated considering the Brazilian value set. A mixed-effects regression model was estimated with random effects on individuals and marginal effects on SES, sex, and educational attainment. Odds ratios for the chance of reporting problems for each EQ-5D dimension were estimated by logistic regression.ResultsA total of 9,148 respondents were included in the study. Mean age was 37.80 ± 13.13 years, 47.4% were men and the majority was ranked as classes B or C (38.4% and 50.7%, respectively). Participants in lower SES classes reported increasingly poorer health compared to individuals in higher classes. The mean EQ-5D-3L index decreased as SES deteriorates being significantly higher for classes A and B (0.874 ± 0.14) compared to class C (0.842 ± 0.15) and classes D and E (0.804 ± 0.17) (p < 0.001). The same was observed for the mean EQ-VAS scores (84.0 ± 13.8 in classes A and B, 81.0 ± 17 in class C and 78.3 ± 18.7 in class C [p < 0.001]). The multivariate analysis confirmed that SES is an independent factor that effects EQ-5D-3L index measures. Participants in intermediate and lower SES classes have a statistically significant lower EQ-5D-3L index compared to participants in classes A and B, regardless of age, sex, and educational attainment.ConclusionIn a Brazilian population sample, the EQ-5D-3L instrument was able to detect important differences between groups with distinct socioeconomic statuses (SES). The EQ-5D-3L is useful for exploring inequities in health.

Accuracy of the third molar maturity index (I3M) for diagnosing the legal majority of young southern Brazilians.

The numerous techniques for identifying adulthood require research testing the accuracy of each method in different populations. This study verified the accuracy of the third molar maturity index (I3M) proposed by Cameriere et al. (2008) for diagnosing the age of majority in a southern Brazilian population sample. Panoramic radiographs of patients with dental element 38 treated at the School of Dentistry of the University of Passo Fundo (UPF), RS, Brazil, were analyzed. The patients were separated into age groups between 15.00 and 22.99 years. The Cameriere (2008) method was applied to each radiograph. The study sample comprised 671 individuals, with 385 women (mean age 19.67 ± 2.05) and 286 men (mean age 19.5 ± 2.11). The original cut-off value of I3M≤0.08 classified individuals younger and older than 18 years. ROC curve plotting resulted in an overall accuracy of 0.69 and 0.84 for women and men, respectively. The most favorable cut-off value for southern Brazilian men was 0.06, and women showed better results with an I3M adjusted to 0.13. The new cut-off values produced an accuracy of 0.78 for women and 0.84 for men. The original cut-off point to the I3M (0.08) was not the most appropriate for the studied sample. Thus, index adjustments to 0.13 for women and 0.06 for men may improve method performance among southern Brazilian individuals. Key words:Molar, third, radiography, panoramic, forensic dentistry, age groups, imputability.

Impact of the early months of the COVID-19 pandemic on the sleep patterns of a Brazilian population sample

ABSTRACT Humanitarian and health crisis have drastic effects on the physical and mental well-being of people. The COVID-19 pandemic forced many countries to impose containment measures on its population to halt the spread of the new coronavirus (SARS-CoV-2). This aim of this study was to explore self-reported sleep quality and insomnia symptoms in a sample of the Brazilian population before and during the COVID-19 quarantine period. Our data was collected through online questionnaires, including the Pittsburgh Sleep Quality Index, the Insomnia Severity Index, and the Sleep Hygiene Index. The final sample comprised 1,109 volunteers. Generalized estimating equations (GEE) revealed that during the initial months of the COVID-19 pandemic, alterations in self-reported sleep parameters were observed in the participants. Sleep efficiency and sleep duration increased, but there was a worsening in sleep quality and an increase in symptoms related to insomnia.

0302 Impact of the COVID-19 pandemic on the sleep pattern of a Brazilian population sample

Abstract Introduction As of late 2019, a new viral variant that causes respiratory infection has concerned humanity: SARS-CoV-2. The following year, the COVID-19 pandemic was declared by the World Health Organization. The spread of the virus across country borders led to the implementation of security measures to contain new infections. The confinement during the pandemic helped to minimize new infections, but it affected people's mental health, including sleep parameters. This study evaluated the impact of the pandemic and social isolation on sleep parameters, including sleep quality and hygiene, in a sample of the Brazilian population. Methods An online questionnaire on the Google Docs platform was sent to all participants who agreed to contribute to the study, constituting a convenience sample. The questionnaire consisted of 8 parts: written consent; socio-demographic characteristics; assessment of quarantine status, COVID-19 infection, and other health complaints; general sleep evaluation; Pittsburgh Sleep Quality Index (PSQI); Insomnia Severity Index (ISI); Sleep Hygiene Index (SHI); closing remarks. All questions were presented in Portuguese and participants had to answer them considering 2 different contexts: before and during the pandemic. PSQI and ISI categorical data from the two periods were evaluated using the McNemar-Bowker test. To evaluate the effects of the pandemic on questionnaire scores, sleep efficiency and total sleep duration (TSD), generalized estimating equations models were used. Age and quarantine time were covariates in the model. Results The final sample comprised 1,109 individuals. During the pandemic, it was observed an increase in sleep efficiency (β=3.537; p=0.002) and in the TSD (β=29.212; p=0.002). Yet, during the pandemic there was an elevation in the PSQI score (β=4.196; p&amp;lt; 0.001) and in the ISI score (β=–6.952; p&amp;lt; 0.001). For this last, there was a statistical significance when considering the interaction between life context and gender, in which women during the pandemic had higher ISI scores than men before the pandemic (β=–1.877; p&amp;lt; 0.001). A decrease in the SHI score was reported during the pandemic (β=–6.768; p&amp;lt; 0.001). Conclusion An increase in sleep efficiency, total sleep time and SHI score was reported in the sample during the pandemic, although insomnia symptoms and sleep quality worsened. Support (if any)

Peak ventilation during treadmill cardiopulmonary exercise testing: applicability analysis of the FRIEND registry prediction equation in a Brazilian healthy sample

Abstract Background Peak ventilation (VEpeak) measured by cardiopulmonary exercise testing (CPX) is a valuable clinical information, especially in patients with pulmonary diseases. Measured values can be compared to maximal voluntary ventilation or to predicted VEpeak calculated by nonexercise equations. However, the FRIEND Registry prediction equation has never been assessed for portability in a Brazilian population sample. Purpose To analyze the applicability of the FRIEND registry prediction equation for VEpeak during treadmill CPX in a Brazilian healthy sample. Methods Cross-sectional study of subjects assessed by CPX in the Brazilian Midwest region between January/2011 to March/2020. The inclusion criteria were CPX performed on treadmill in healthy individuals aged 20 years or older, and with respiratory exchange ratio ≥1.0. The exclusion criteria were any history of cardiovascular or pulmonary disease, presence of cardiovascular risk factors (such as hypertension, diabetes mellitus, current smoking, and obesity) and abnormalities on CPX. Measured VEpeak values were compared with predicted values calculated using age, sex, and height, according to the FRIEND Registry prediction equation. Variables were described as median and interquartile range. Statistical comparisons between measured and predicted VEpeak were performed using Spearman correlation test, Wilcoxon signed rank test, and Blant-Altman agreement analysis. Results During the study period 7,843 CPX were performed and included for study eligibility. After the inclusion and exclusion criteria were applied, 3,544 healthy individuals' assessments were included [1,574 females and 1,970 males, age 39 (33, 47) years]. The measured and predicted VEpeak were, respectively, 76.8 (66.7, 87.4) and 76.2 (68.5, 83.0) L min–1 in females, with significant difference (p=0.004). In males, the measured and predicted VEpeak were, respectively, 123.0 (107.3, 137.3) and 114.8 (107.5, 120.7) L min–1, also with statistical difference (p&amp;lt;0.001). Correlations were significant (p&amp;lt;0.001) for both sexes (r2=0.424 for females and .421 for males) (Figure 1). Average error was lower for females than males, with bias of 1.22 L min–1 (95% limits of agreement: - 26.95 to 29.39) in females and bias of 8.41 L min–1 (95% limits of agreement: −33.04 to 49.87) in males (Figure 2). Conclusion Measured VEpeak median values were greater than predicted median values for both sexes, with lower average error in females than in males. The significant average error in males limits the prediction equation applicability in the Brazilian population. Thus, the development of a new Brazilian prediction equation is necessary to better evaluate the variable response during CPX in Brazil. Funding Acknowledgement Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).

Abstract P049: Blood Pressure Polygenic Risk Score Stratifies Individuals With High Risk Of Hypertension In Different Ancestries

The heritability of arterial hypertension ranges from 25 to 68%, but the underlying genetic determinants remain elusive. Thousands of variants with small effects on systolic blood pressure (SBP) from European Ancestry Genome-Wide Association Studies have been used to derive genetic risk scores, whose predictive power in samples from diverse ancestries has yet to be determined. We used the LDPred2 algorithm and 423 thousand genetic variants from UK Biobank that were common to an admixed sample population from Brazil to derive SBP polygenic risk scores (PRS). We selected the best model that displayed a score with hyper-parameters ρ = 0.056, h 2 = 0.0739 and without sparsity, which presented the highest correlation coefficient with observed SBP (0.206) and SBP change per standard deviation increase (4.04mmHg) in a different set of data from the UK Biobank prior to test its predictive power on SBP and hypertension in a third set of the UK Biobank and two admixed Brazilian population samples. All three populations displayed similar normal distribution of PRS, with the UK Biobank PRS distribution slightly shifted to the right, presenting higher PRS average (7.8 vs. 5.6 and 6.4 in Baependi and Pelotas, respectively), but with similar standard deviation (3.3 vs. 3.2 for both Baependi and Pelotas). We used the PRS deciles to stratify the populations and observed a significant difference on SBP average between the top and bottom deciles in all three populations (14.43 mmHg, 9.34 mmHg and 7.51 mmHg for the UK Biobank, Baependi and Pelotas, respectively). We then compared the top 10% PRS versus the remaining 90% of the PRS distribution, and observed that high PRS is associated with 1.8, 2 to 3 and 3 to 4-fold increase in prehypertension, hypertension stage I and hypertension stage II risk, respectively, demonstrating that the increased risk is independently of age and ancestry. Considering the highly admixed nature of the Brazilian population, we provide evidence for the generalization of PRS between populations with different genetic structure.

Genetic diversity of the LILRB1 and LILRB2 coding regions in an admixed Brazilian population sample.

Leukocyte immunoglobulin (Ig)-like receptors (LILR) LILRB1 and LILRB2 may play a pivotal role in maintaining self-tolerance and modulating the immune response through interaction with classical and nonclassical HLA molecules. Although both diversity and natural selection patterns over HLA genes have been extensively evaluated, little information is available concerning the genetic diversity and selection signatures on the LILRB1/2 regions. Therefore, we identified the LILRB1/2 genetic diversity using next-generation sequencing in a population sample from São Paulo State, Brazil. We identified 58 LILRB1 Single Nucleotide Variants (SNVs), which gave rise to 13 haplotypes, and 41 LILRB2 SNVs arranged into 11 haplotypes. Although we may not exclude as a possible effect of population structure, we found evidence of either positive or purifying selection on LILRB1/2 coding regions. Some residues in both proteins showed to be under the effect of positive selection, suggesting that amino acid replacements in these proteins resulted in beneficial functional changes. Finally, we have revealed that allelic variation (six and five amino acid exchanges in LILRB1 and LILRB2, respectively) affects the structure and/or stability of both molecules. Nonetheless, LILRB2 has shown higher average stability, with no D1/D2 residue affecting protein structure. Overall, our findings demonstrate that LILRB1 and LILRB2 are as polymorphic as HLA class Ib genes and provide strong evidence supporting the directional selection regime hypothesis.

Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study

IntroductionMalignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. ObjectiveTo assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. MethodsWe examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). ResultsMean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). ConclusionsPositive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases.

Analysis and comparison of the STR genotypes called with HipSTR, STRait Razor and toaSTR by using next generation sequencing data in a Brazilian population sample

Short tandem repeats (STRs) are particularly difficult to genotype with rapid evolving next-generation sequencing (NGS) technology. Long amplicons containing repetitive sequences result in alignment and genotyping errors. Stutters arising from polymerase slippage often result in reads with additional or missing repeat copies. Many tools are available for analysis of STR markers from NGS data. This study has evaluated the concordance of the HipSTR, STRait Razor, and toaSTR tools for STR genotype calling; NGS data obtained from a highly genetically diverse Brazilian population sample have been used. We found that toaSTR can retrieve a larger number of genotypes (93.8%), whereas HipSTR (84.9%) and STRait Razor present much lower genotype calling (75.3%). Accuracy levels for genotype calling are very similar (identical genotypes ~95% and correct alleles ~ 97.5%) across the three methods. All the markers presenting the same genotype through the methods are in Hardy–Weinberg equilibrium. We found that combined match probability and combined exclusion power are 2.90 × 10−28 and 0.99999999982, respectively. Although toaSTR has varying locus-specific differences and better overall performance of toaSTR, the three programs are reliable genotyping tools. Notwithstanding, additional effort is necessary to improve the genotype calling accuracy of next-generation sequencing datasets.

Heterogeneity of cardiorespiratory fitness among Brazilian regions and comparison with Norwegian values

Abstract Introduction Cardiorespiratory fitness (CRF) is an important component of health-related physical fitness, and its reduction is associated with a higher risk of cardiovascular disease and increased mortality. Maximal oxygen consumption (VO2 max) measured in the Cardiopulmonary Exercise Test (CPET) is the gold standard for CRF evaluation. The measured VO2 max is compared to predicted normal reference values to provide an accurate and individualized evaluation and classification. However, predicted values have gender and age differences, and data from different regions and countries can be heterogenous due to different demographic and biopsychosocial characteristics. Purpose To compare reference values of VO2 max in Brazilian and Norwegian population samples do analyze geographical CRF differences. Method Brazilian reference values for CRF were compared within each other and with Norwegian values. The included studies evaluated healthy individual with CPET and direct measurement of VO2 max on a treadmill. Mean, standard deviation and sample size were obtained from the published articles in the last decade, and and standard error of mean (SEM) were calculated. The differences on CRF between studies were analyzed using SEM and the 95% confidence interval. Results Brazilian reference values for CRF were different between each other, with lower values at Northeast region and higher values at Southeast for all age groups and both genders. Midwest region showed CRF with intermediate values between these two regions. Comparisons also revealed different values from Norway, which presented the highest CRF for all age groups and both genders (Pictures 1 and 2). Observed heterogeneity in CRF may be explained by anthropometric differences, as Northeast individuals had lower height than the other Brazilian samples, and the Norwegians were the tallest. Other demographic and biopsychosocial characteristics may also play a role. Conclusion The present study revealed differences on CRF between countries and within Brazilian population, with a negative gradient from southern to northern regions of Brazil. This finding reinforces the appropriateness of adequate use of regional and country specific reference values for VO2 max to ensure a correct CRF evaluation and classification. Funding Acknowledgement Type of funding sources: None.

Monitoring Public Perception of Health Risks in Brazil and Italy: Cross-Cultural Research on the Risk Perception of Choking in Children.

One of the most relevant public health issues among pediatric injuries concerns foreign body (FB) aspiration. The risk perception of choking hazards (CH) and risk perception, in general, are complex multifactorial problems that play a significant role in defining protective behavior. Risk prevention policies should take this aspect into account. A lack of scientific knowledge of FB injury risk perception may be evidenced in Brazil and other newly developed countries. This study aims to characterize the differences and peculiarities in risk perception of CH between Italian and Brazilian populations. The risk perception among adults in Italy and Brazil between September and October 2017 was investigated in a survey. A Multiple Correspondence Analysis was carried out to identify the latent components characterizing the risk perception in Italian and Brazilian population samples. The most relevant dimension characterizing risk perception is the “Professional–educational status and the related perception of Risk” (13% of factorial inertia). The Italians identify batteries and magnets as the most dangerous choking risks (20% of responses). On the other hand, Brazilian people, mainly manual laborers (22%) with secondary or primary education (94%), perceive coins as the most dangerous items (30% of responses, p < 0.001). Socio-economic issues characterize the subjective risk perception of Italian and Brazilian survey respondents. In this framework, data-driven prevention strategies could be helpful to tailor intervention strategies to the cultural context to which they are addressed.

Prediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample.

Human pigmentation is a complex trait, probably involving more than 100 genes. Predicting phenotypes using SNPs present in those genes is important for forensic purpose. For this, the HIrisPlex tool was developed for eye and hair color prediction, with both models achieving high accuracy among Europeans. Its evaluation in admixed populations is important, since they present a higher frequency of intermediate phenotypes, and HIrisPlex has demonstrated limitations in such predictions; therefore, the performance of this tool may be impaired in such populations. Here, we evaluate the set of 24 markers from the HIrisPlex system in 328 individuals from Ribeirão Preto (SP) region, predicting eye and hair color and comparing the predictions with their real phenotypes. We used the HaloPlex Target Enrichment System and MiSeq Personal Sequencer platform for massively parallel sequencing. The prediction of eye and hair color was accomplished by the HIrisPlex online tool, using the default prediction settings. Ancestry was estimated using the SNPforID 34-plex to observe if and how an individual's ancestry background would affect predictions in this admixed sample. Our sample presented major European ancestry (70.5%), followed by African (21.1%) and Native American/East Asian (8.4%). HIrisPlex presented an overall sensitivity of 0.691 for hair color prediction, with sensitivities ranging from 0.547 to 0.782. The lowest sensitivity was observed for individuals with black hair, who present a reduced European contribution (48.4%). For eye color prediction, the overall sensitivity was 0.741, with sensitivities higher than 0.85 for blue and brown eyes, although it failed in predicting intermediate eye color. Such struggle in predicting this phenotype category is in accordance with what has been seen in previous studies involving HIrisPlex. Individuals with brown eye color are more admixed, with European ancestry decreasing to 62.6%; notwithstanding that, sensitivity for brown eyes was almost 100%. Overall sensitivity increases to 0.791 when a 0.7 threshold is set, though 12.5% of the individuals become undefined. When combining eye and hair prediction, hit rates between 51.3 and 68.9% were achieved. Despite the difficulties with intermediate phenotypes, we have shown that HIrisPlex results can be very helpful when interpreted with caution.

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

We recently reported a deviation of local ancestry on the chromosome (ch) 8p23.1, which led to positive selection signals in a Brazilian population sample. The deviation suggested that the genetic variability of candidate genes located on ch 8p23.1 may have been evolutionarily advantageous in the early stages of the admixture process. In the present work, we aim to extend the previous work by studying additional Brazilian admixed individuals and examining DNA sequencing data from the ch 8p23.1 candidate region. Thus, we inferred the local ancestry of 125 exomes from individuals born in five towns within the Southeast region of Brazil (São Paulo, Campinas, Barretos, and Ribeirão Preto located in the state of São Paulo and Belo Horizonte, the capital of the state of Minas Gerais), and compared to data from two public Brazilian reference genomic databases, BIPMed and ABraOM, and with information from the 1000 Genomes Project phase 3 and gnomAD databases. Our results revealed that ancestry is similar among individuals born in the five Brazilian towns assessed; however, an increased proportion of sub-Saharan African ancestry was observed in individuals from Belo Horizonte. In addition, individuals from the five towns considered, as well as those from the ABRAOM dataset, had the same overrepresentation of Native-American ancestry on the ch 8p23.1 locus that was previously reported for the BIPMed reference sample. Sequencing analysis of ch 8p23.1 revealed the presence of 442 non-synonymous variants, including frameshift, inframe deletion, start loss, stop gain, stop loss, and splicing site variants, which occurred in 24 genes. Among these genes, 13 were associated with obesity, type II diabetes, lipid levels, and waist circumference (PRAG1, MFHAS1, PPP1R3B, TNKS, MSRA, PRSS55, RP1L1, PINX1, MTMR9, FAM167A, BLK, GATA4, and CTSB). These results strengthen the hypothesis that a set of variants located on ch 8p23.1 that result from positive selection during early admixture events may influence obesity-related disease predisposition in admixed individuals of the Brazilian population. Furthermore, we present evidence that the exploration of local ancestry deviation in admixed individuals may provide information with the potential to be translated into health care improvement.

KIR2DL4 genetic diversity in a Brazilian population sample: implications for transcription regulation and protein diversity in samples with different ancestry backgrounds

KIR2DL4 is an important immune modulator expressed in natural killer cells; HLA-G is its main ligand. We have characterized the KIR2DL4 genetic diversity by considering the promoter, all exons, and all introns in a highly admixed Brazilian population sample and by using massively parallel sequencing. We introduce a molecular method to amplify and to sequence the complete KIR2DL4 gene. To avoid the mapping bias and genotype errors commonly observed in gene families, we have developed and validated a bioinformatic pipeline designed to minimize these errors and applied it to survey the variability of 220 individuals from the State of São Paulo, southeastern Brazil. We have also compared the KIR2DL4 genetic diversity in the Brazilian cohort with the diversity previously reported by the 1000Genomes consortium. KIR2DL4 presents high linkage disequilibrium throughout the gene, with coding sequences associated with specific promoters. There are few but divergent promoter haplotypes. We have also detected many new KIR2DL4 sequences, all bearing nucleotide exchanges in introns and encoding previously described proteins. Exons 3 and 4, which encode the external domains, are the most variable. The ancestry background influences the KIR2DL4 allele frequencies and must be considered for association studies regarding KIR2DL4.

Prevalence of calcified triticeous cartilage-compatible images on 2500 digital panoramic radiographs of a Brazilian population sample

Objective: To investigate the prevalence of calcified triticeous cartilage (CTC)-compatible images on digital panoramic radiographs of a significant Brazilian population sample. Methods: In this retrospective study, 2500 digital panoramic radiographs were analyzed by a trained examiner using contrast and brightness adjustments of the Adobe® Photoshop® CC 2015 software. Data were collected and exported for statistical analysis (p-value &lt;0.05 was considered statistically significant). Results: The prevalence of CTC-compatible images was 4.5% (61.1% in women and 38.9% in men). The most prevalent age ranged between 51 and 60 years (32.7%), and bilateral occurrence had a higher prevalence (46.9%). Women between the ages of 61 and 70 years showed a significantly higher prevalence of CTC-compatible images (p=0.027). Conclusion: This study showed a low prevalence of CTC-compatible images, which mainly occurred in women close to 70 years of age.

O efeito do polimorfismo TaqIA (rs1800497) no comportamento do tabagismo em um grupo populacional Brasileiro

Objetivo: Investigar a associação entre um polimorfismo relacionado aos receptores de dopamina, conhecido como TaqIA, e o comportamento tabágico em uma amostra da população Brasileira. Métodos: Trata-se de um estudo transversal, com 449 indivíduos de ambos os sexos, maiores de 18 anos. O histórico do comportamento tabágico foi obtido por meio de um questionário. Amostras de sangue foram genotipadas para TaqIA (rs1800497) por Reação em Cadeia da Polimerase em tempo real. Análises de Regressão logística e linear foram usadas para verificar o efeito dos genótipos no comportamento tabágico. Resultados: 66,4% dos participantes eram Nunca fumantes, 12,2% Fumantes atuais e 21,4% Ex-fumantes. O alelo variante T de TaqIA foi associado ao início do tabagismo mais tardio em comparação a CC (16,97 vs. 15,09; IC 95%: 15,75-18,19; p= 0,02). O alelo T também conferiu maior probabilidade de cessação em mulheres (OR= 3,17; 95% IC: 1,06-9,45; p=0,04). Nos homens não foi encontrada diferença significativa. Não foi observada associação entre o polimorfismo e o risco para se tornar fumante, CPD, e FTND. Conclusão: TaqIA rs1800497 foi associado com um efeito protetor para idade de iniciação do tabagismo e maior probabilidade de cessação em mulheres, em uma amostra da população Brasileira.

VO2max-Based Physical Fitness Categories in a Brazilian Population with Supposed High Socioeconomic Status and without Structural Heart Disease.

ResumoFundamento Os dados mais utilizados como referência de aptidão cardiorrespiratória (ACR) são os de Cooper, que utiliza valores calculados de captação máxima de oxigênio (VO2máx).Objetivo Desenvolver valores de ACR a partir do teste cardiopulmonar de exercício (TCPE) em uma população brasileira com alto nível socioeconômico e livre de cardiopatia estrutural. Os resultados dos testes de VO2max foram comparados aos dados de Cooper e do FRIEND Registry.Métodos Foram utilizados neste estudo dados de TCPE de indivíduos consecutivos entre 1º de janeiro de 2000 e 31 de maio de 2016. Os critérios de inclusão foram: VO2máx pré-definido. Foi construído um gráfico de ACR de acordo com os percentuais do VO2máx: muito ruim (≤20%), ruim (20-40%), regular (40-60%), boa (60-80%), excelente (80-90%), e superior (≥90%). A correlação Kappa foi usada para analisar nossos dados em comparação aos dados dos outros dois bancos de dados. Os testes estatísticos com p<0,005 foram considerados significativos.Resultados A coorte final incluiu 18.186 testes: 12.552 homens, 5.634 mulheres (7 a 84 anos). A resposta mais recorrente foi “boa” (20,2%). Houve diferença média de peso, altura, índice de massa corporal (IMC) e idade no gráfico da ACR. Houve correlação inversa entre VO2máx e idade, peso e IMC. Usando uma regressão linear e essas variáveis, uma equação preditiva foi desenvolvida para o VO2máx. Nossas descobertas diferiram das dos outros bancos de dados.Conclusão Desenvolvemos uma classificação para a ACR e encontramos valores mais altos em todas as faixas de classificação de capacidade funcional, em contraste com os dados de Cooper e do FRIEND Registry. Nossos achados oferecem uma interpretação mais precisa da ACR nessa grande amostra populacional brasileira, quando comparados aos padrões anteriores, com base no VO2máx estimado. (Arq Bras Cardiol. 2020; 115(3):468-477)

CHRNA5/CHRNA3 polymorphisms and tobacco smoking risk in a Brazilian population sample

Tobacco smoking is a major risk factor of several diseases such as lung cancer, stroke, chronic obstructive pulmonary disease and increases the susceptibility to infectious diseases. The understanding of smoking addiction requires phenotyping and genotyping studies. Variations in CHRNA5/CHRNA3 can alter receptor responses to nicotine and thus interfere with smoking behavior and risk. Therefore, this study aimed to investigate the association of CHRNA5 rs16969968 and CHRNA3 rs578776 with smoking behavior in a Brazilian population sample, comprising 449 subjects. Smoking data was obtained from a questionnaire. The polymorphisms were genotyped by Polymerase Chain Reaction (PCR). Associations were verified using logistic and linear regression analyses. We found that women with the variant AA genotype for CHRNA5 rs16969968 were at significantly increased risk of smoking, with an OR of 3.09 (95% CI: 1.09-8.76; p= 0.033). The variant TT genotype of CHRNA3 rs578776 showed protection against smoking and later smoking initiation in the overall population and in women, with an OR of 0.41 (95% CI: 0.19-0.88; p=0.022). In conclusion, CHRNA5 rs16969968 and CHRNA3 rs578776 were associated with increased risk and protective effect against smoking, respectively, in a Brazilian population sample. Gender and recessive homozygosis of the polymorphisms variants resulted in a significant effect regarding the results.

CHRNA5/CHRNA3 polymorphisms and tobacco smoking risk in a Brazilian population sample

CHRNA5/CHRNA3 polymorphisms and tobacco smoking risk in a Brazilian population sample