Large Brazilian Population Research Articles

Periodontal bacterial species and target serotypes in individuals harboring Aggregatibacter actinomycetemcomitans: a retrospective study in a large Brazilian population

OBJECTIVE: The first aim of this study was to evaluate the prevalence of A. actinomycetemcomitans in a large Brazilian population. The second aim was to analyse the frequency of A. actinomycetemcomitans serotypes, P. gingivalis, P. intermedia, T. forsythia and C. rectus in the positive individuals for A. actinomycetemcomitans. MATERIAL AND METHODS: The population was composed of 1,320 individuals. Subgingival biofilm samples were taken for molecular analysis. RESULTS: It was revealed that 263 (19.9%) individuals tested positive for A. actinomycetemcomitans. Then, the genomic DNA of A. actinomycetemcomitans serotypes (a to f ) as well as P. gingivalis, P. intermedia, T. forsythia, and C. rectus were analysed. A. actinomycetemcomitans serotype a was detected in 28.5%, serotype b in 15.97%, serotype c in 51.71%, and serotype e in 3.80% of individuals, respectively. Serotypes d and f were not detected. The frequency of A. actinomycetemcomitans serotype a was significantly higher in C. rectus-positive individuals than in P. gingivalis-, P. intermedia-, or T. forsythia-positive individuals. Additionally, the frequency of serotypes b and c were significantly higher in both C. rectus- and T. forsythia-positive individuals in comparison to P. gingivalis- and P. intermedia-positive individuals. Meanwhile, the frequency of serotype e was not associated with the presence of the other periodontal pathogens. CONCLUSION: The data of this large population confirmed A. actinomycetemcomitans prevalence values previously observed in smaller groups. Further, suggested potential coaggregation among selected A. actinomycetemcomitans serotypes and other target periodontal bacterial species in the subgingival environment.

Associations of plasma lipids, lipoproteins, and cardiovascular outcomes with climatic variations in a large Brazilian population of Campinas, São Paulo state: an eight-year study.

In this eight-year retrospective study, we evaluated the associations between climatic variations and the biological rhythms in plasma lipids and lipoproteins in a large population of Campinas, São Paulo state, Brazil, as well as temporal changes of outcomes of cardiovascular hospitalizations. Climatic variables were obtained at the Center for Meteorological and Climatic Research Applied to Agriculture (University of Campinas - Unicamp, Brazil). The plasma lipid databases surveyed were from 27,543 individuals who had their lipid profiles assessed at the state university referral hospital in Campinas (Unicamp). The frequency of hospitalizations was obtained from the Brazilian Public Health database (DATASUS). Temporal statistical analyses were performed using the methods Cosinor or Friedman (ARIMA) and the temporal series were compared by cross-correlation functions. In normolipidemic cases (n=11,892), significantly different rhythmicity was observed in low-density lipoprotein (LDL)- and high-density lipoprotein (HDL)-cholesterol (C) both higher in winter and lower in summer. Dyslipidemia (n=15,651) increased the number and amplitude of lipid rhythms: LDL-C and HDL-C were higher in winter and lower in summer, and the opposite occurred with triglycerides. The number of hospitalizations showed maximum and minimum frequencies in winter and in summer, respectively. A coincident rhythmicity was observed of lower temperature and humidity rates with higher plasma LDL-C, and their temporal series were inversely cross-correlated. This study shows for the first time that variations of temperature, humidity, and daylight length were strongly associated with LDL-C and HDL-C seasonality, but moderately to lowly associated with rhythmicity of atherosclerotic outcomes. It also indicates unfavorable cardiovascular-related changes during wintertime.

Vertucci’s Root Canal Configuration of 14,413 Mandibular Anterior Teeth in a Brazilian Population: A Prevalence Study Using Cone-beam Computed Tomography

IntroductionThis cone-beam computed tomographic (CBCT)-based study evaluated the root canal configurations of mandibular anterior teeth in a large Brazilian population, along with the influence of sex and the frequency of symmetry between the contralateral teeth. MethodsOverall, 2543 CBCT scans, including those of 4773 lower central incisors (LCIs), 4835 lower lateral incisors (LLIs), and 4805 lower canines (LCs), were analyzed. The scans were obtained from a private radiologic clinic using the PreXion 3D device (Yoshida Dental Mfg Co, Ltd, Tokyo, Japan) with a 0.14-mm voxel size; exposure parameters of 90 kV, 4 mA, and 19 seconds; and a field of view of 80 × 80 mm. Root canal anatomy was analyzed according to the Vertucci classification. Sex influence on the canal distribution and symmetry between the contralateral teeth were analyzed. The data were analyzed statistically and were considered significant when P < .05. ResultsAll LCIs and LLIs had 1 root, whereas 2.4% of LCs had 2 roots. Two root canals were observed in approximately 20% of LCIs and LLIs and in approximately 11% of LCs. The most common configuration was type I followed by type III. Bilateral symmetry occurred in a majority of the individuals (ie, 91% in LCIs, 87% in LLIs, and 87% in LCs). No sex influence was noted with LLIs and LCs (P > .05). However, LCIs showed a higher prevalence of 2 canals in men (P < .05). ConclusionsThe prevalence of 2 root canals in the mandibular anterior teeth in Brazilians was approximately 20% for central and lateral incisors and 10% for canines.

Childhood-onset systemic lupus erythematosus-related antiphospholipid syndrome: A multicenter study with 1519 patients.

To assess childhood-onset systemic lupus erythematosus-related antiphospholipid syndrome(cSLE-APS) in a large Brazilian population. A retrospective observational cohort study was carried-out in 27 Pediatric Rheumatology university centers, including 1519 cSLE patients. cSLE-APS was observed in 67/1519 (4%) and was diagnosed at disease onset in 39/67 (58%). The median disease duration was 4.9 (0-17) years. Thrombosis recurrences were evidenced in 18/67 (27%) cSLE-APS patients. The most frequent thrombosis sites in cSLE-APS patients were: venous thrombosis in 40/67 (60%), especially deep vein thrombosis in 29/40 (72%); arterial thrombosis in 35/67 (52%), particularly stroke; small vessels thrombosis in 9/67 (13%) and mixed thrombosis in 3/67 (4%). Pregnancy morbidity was observed in 1/67 (1%). Non-thrombotic manifestation associated to cSLE-APS occurred in 21/67 (31%), mainly livedo reticularis in 14/67 (21%), valvar thickening in 4/67 (6%) and valvar vegetations not related to infections in 2/67 (3%). None of them had catastrophic APS. Further analysis demonstrated that the median of SLICC/ACR-DI [1(0-5) vs. 0(0-7),p < 0.0001] was significantly higher in cSLE-APS patients compared to cSLE without APS. The frequencies of cerebrovascular disease (40% vs. 1%,p < 0.0001), polyneuropathy (9% vs. 1%,p < 0.0001), SLICC/ACR-DI ≥1 (57% vs. 27%, p < 0.0001) and intravenous cyclophosphamide use (59% vs. 37%, p < 0.0001) were significantly higher in the former group. Our large multicenter study demonstrated that cSLE-APS was a rare condition, occurring during disease course with a high accrual damage. Central and peripheral neuropsychiatric involvements were distinctive features of this autoimmune thrombosis.

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)

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

BackgroundFabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting doubts about the diagnosis and treatment. The α-Galactosidase A enzymatic activity in dried blood spot (DBS) samples are widely used for screening purposes; however, even when values below the normal are found, new tests are required to confirm the diagnosis. Here we describe an analysis of GLA variants and their correlation with DBS α-Galactosidase A enzymatic activity in a large Brazilian population with Fabry disease symptoms.ResultsWe analyzed GLA variants by DNA sequencing of 803 male patients with suspected Fabry disease or belonging to high-risk populations; in 179 individuals, 58 different exonic variants were detected. From these, 50 are variants described as pathogenic and eight described as variants of unknown significance. The other individuals presented complex non-coding haplotypes or had no variants. Interestingly, the enzymatic activity in DBS was different among pathogenic variants and the other genotypes, including variants of unknown significance; the first presented mean of 12% of residual activity, while the others presented levels above 70% of the activity found in healthy controls.ConclusionThe activity of α-Galactosidase A in DBS was markedly reduced in males with known pathogenic variants when compared with subjects presenting variants of unknown significance, non-coding haplotypes, or without variants, indicating a possible non-pathogenic potential of these latter genotypes. These findings bring a better understanding about the biochemical results of α-Galactosidase A in DBS samples, as well as the possible non-pathogenic potential of non-coding haplotypes and variants of unknown significance in GLA gene. These results certainly will help clinicians to decide about the treatment of patients carrying variants in the gene causing this rare but life-threatening disease.

Seasonal Rhythms In Serum Lipids And Lipoproteins And Their Modulation By Age: A Large Population Study

Background and Aims: Seasonal rhythms in plasma lipids and lipoproteins influence the outcomes of cardiovascular disease. The aim of this study was to explore in a large Brazilian population if and how age modifies these rhythms.

Abstract 1406: EGF+61 A&amp;gt;G polymorphism is not a lung cancer risk: A case-control study in a large Brazilian population

Abstract Lung cancer is a malignancy with high incidence and mortality worldwide, being in Brazil the first most lethal cancer in men and second in women. Epidermal growth factor (EGF) and its receptor (EGFR) play a central role in lung carcinogenesis, once EGF/EGFR interaction activates several intracellular pathways that control cellular growth, proliferation, differentiation, migration and apoptosis. It has been described the association between a single nucleotide polymorphism (SNP) in EGF promoter region (EGF+61 A&amp;gt;G - rs4444903) and cancer susceptibility to distinct tumors. In lung cancer, the results are still scarce and unclear, with different reports showing discrepant results. Therefore, the aim of this study is to evaluate the risk of lung cancer development associated with the EGF+61 A&amp;gt;G SNP in the Brazilian population. For that, 669 lung cancer patients and 1104 controls were analyzed. Following DNA isolation from both cases (FFPE or blood) and controls (blood), the EGF+61 A&amp;gt;G genotype was assessed by PCR-RFLP in FFPE samples, and TaqMan genotyping assay for blood's DNAs. As expected, uni- and multivariate analyses, showed that tobacco consumption (p&amp;lt;0.001; OR=11.47; 95% CI 8.44-15.58 for smokers and p&amp;lt;0.001; OR 3.06; 95% CI 2.28-4.10 for ex-smokers) and age (p&amp;lt;0.001; OR=3.74; 95% CI 1.2.95-4.74 for &amp;gt;65 years) were important risk factors for lung cancer. Both patients and controls were in Hardy-Weinberg equilibrium. The genotype frequencies observed in lung cancer patients were 27.4% of AA, 47.4% of AG and 25.3% of GG, and for controls were 25.3% of AA, 51.6% of AG and 23.1% of GG. The allele frequencies were 51.1% of A and 48.9% of G in patients for both cases and controls. No significant differences for the three genotypes (AA, AG and GG - model 1) were observed between cases and controls (p=0.116; AG genotype: OR=0.80; 95% CI 0.61-1.05 and GG genotype: OR=1.03; 95% CI 0.75-1.42). We further grouped AG and GG and compared with the AA genotype (model 2), as well grouped AA and AG, compared to GG genotype (model 3), and no significant differences were found (model 2 - p=0.3; OR=0.87; 95% CI 0.67-1.12; model 3 - p=0.197; OR= 1.19; 95% CI 0.91-1.55). Moreover, disease-free and overall survivals were calculated considering the 3 models, and no significant differences were observed. In conclusion, the present study suggest that EGF+61 A&amp;gt;G polymorphism is not a risk factor for lung cancer in Brazilian population. Citation Format: Ana C. Laus, Flavia E. de Paula, Marcos A. Lima, Carolina D. Carlos, Izabela N. Gomes, Pedro R. de Marchi, Luciano S. Viana, Cristovam Scapulatempo Neto, Rui M. Reis. EGF+61 A&amp;gt;G polymorphism is not a lung cancer risk: A case-control study in a large Brazilian population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 1406.

Seasonality of Temperature, Serum Lipids, Lipoproteins and Atherosclerotic Cardiovascular Events: an 8-year Period Study of Large Brazilian Population Samples

Seasonality of Temperature, Serum Lipids, Lipoproteins and Atherosclerotic Cardiovascular Events: an 8-year Period Study of Large Brazilian Population Samples

Leisure Time Physical Activity and Cardio-Metabolic Health: Results From the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

BackgroundAlthough increasing effort has been devoted to the promotion of a healthy lifestyle such as leisure time physical activity for cardio‐metabolic health, specific evidence supporting health policy remains sparse, particularly in those ethnically diverse populations where cardio‐metabolic diseases are reaching epidemic proportion and yet are grossly understudied.Methods and ResultsWe conducted a cross‐sectional analysis of the baseline data from 10 585 participants aged 35 to 74 free of cardiovascular diseases in the Brazilian Longitudinal Study of Adult Health. Leisure time physical activity status was defined by the American Heart Association and the World Health Organization recommendations (≥150 min/week moderate activities or 75 min/week vigorous activities). In total, 1183 (21%) women and 1387 (29%) men were active. After accounting for covariates, the favorable effects of leisure time physical activity on cardio‐metabolic parameters were evident. Specifically, the average blood pressure, heart rate, and Framingham Risk Score for cardiovascular diseases of the active were significantly lower within each sex. The ORs comparing the active versus the inactive women were 0.78 (95% CI: 0.66–0.92) for hypertension and 0.78 (95% CI: 0.65–0.93) for cardiovascular diseases in 10 years. Among men, the ORs were 0.75 (95% CI: 0.65–0.87) for hypertension and 0.73 (95% CI: 0.61–0.87) for diabetes. The 10‐year risk of cardiovascular diseases was significantly lower among the active men with a 33% reduction (OR=0.67, 95% CI: 0.57–0.78).ConclusionsWe observed beneficial effects of leisure time physical activity on cardio‐metabolic health in this large Brazilian population that are consistent with studies in North America and Europe.

Abstract P124: Leisure Time Physical Activity and Cardio-metabolic Health: Results from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil)

Context: Physical inactivity and cardio-metabolic diseases are increasingly prevalent in Brazil, and preventive guidelines are urgently needed for physical activity (PA) promotion in Brazilian populations. Objective: To investigate the association between leisure time PA and cardio-metabolic health in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil). Methods: We conducted a cross-sectional analysis of the baseline data from 11,547 women and men aged 35-74 free of cardiovascular diseases (CVD) in the ELSA-Brasil. Data on PA was obtained using the International Physical Activity Questionnaire. Physical activity status was defined according to the American Heart Association’s recommendation (at least 150 minutes/ week moderate activities or 75 minutes/week vigorous activities). Multivariable linear/logistic regression models were used to examine the sex-specific associations of leisure time PA with intermediate cardio-metabolic markers (systolic/dialectic blood pressure (SBP/DBP), heart frequency, and Framingham Risk Scores) and cardio-metabolic diseases (hypertension, diabetes, and predicted 10-year risk of CVD). We also conducted two sets of sensitivity analyses using 1) an alternative definition of PA (PA-related energy expenditure ≥ 1000 kilocalories/week) and 2) additional adjustment for education and income. Results: In total, 1,183 women and 1,387 men were classified as active. After taking into account multiple covariates, the favorable effects of leisure time PA on cardio-metabolic parameters were evident for both women and men (Table) . These associations did not change appreciably when the alternative definition of PA was used or additional socioeconomic variables were taken into account. Conclusion: We observed significant beneficial effects of leisure time PA on cardio-metabolic health in this large Brazilian population that are consistent with studies in high-income countries of North America and Europe.

Reference values for the cervical length measurement in the second trimester of pregnancy using the transvaginal ultrasound in a large Brazilian population.

To establish reference values for the cervical length (CL) measurement by transvaginal ultrasound between 20 and 24+6 weeks of gestation in a large Brazilian population. A retrospective cross-sectional study was performed with 996 singleton pregnancies. The CL measurement (mm) using the transvaginal ultrasound was obtained in a sagittal view and the calipers positioned to measure the linear distance between the triangular area of echodensity at the external os and the internal os. The median±standard deviation and ranges for the CL measurement (mm) was 37.0±10.7 (range, 8 to 51). CL measurement did not modify significantly with gestational age. The observed percentiles for the CL measurement (mm) considering all number case were the following: 5th, 28 mm; 50th, 37 mm; and 95th, 45 mm. Reference values for the CL measurement by transvaginal ultrasound between 20 and 24+6 weeks of gestation in a large heterogeneous Brazilian population were established.

Obesity and metabolic phenotypes (metabolically healthy and unhealthy variants) are significantly associated with prevalence of elevated C-reactive protein and hepatic steatosis in a large healthy Brazilian population.

Background. Among the obese, the so-called metabolically healthy obese (MHO) phenotype is thought to confer a lower CVD risk as compared to obesity with typical associated metabolic changes. The present study aims to determine the relationship of different subtypes of obesity with inflammatory-cardiometabolic abnormalities. Methods. We evaluated 5,519 healthy, Brazilian subjects (43 ± 10 years, 78% males), free of known cardiovascular disease. Those with <2 metabolic risk factors (MRF) were considered metabolically healthy, and those with BMI ≥ 25 kg/m2 and/or waist circumference meeting NCEP criteria for metabolic syndrome as overweight/obese (OW). High sensitivity C reactive protein (hsCRP) was measured to assess underlying inflammation and hepatic steatosis (HS) was determined via abdominal ultrasound. Results. Overall, 40% of OW individuals were metabolically healthy, and 12% normal-weight had ≥2 MRF. The prevalence of elevated CRP (≥3 mg/dL) and HS in MHO versus normal weight metabolically healthy group was 22% versus 12%, and 40% versus 8% respectively (P < 0.001). Both MHO individuals and metabolically unhealthy normal weight (MUNW) phenotypes were associated with elevated hsCRP and HS. Conclusion. Our study suggests that MHO and MUNW phenotypes may not be benign and physicians should strive to treat individuals in these subgroups to reverse these conditions.

Association between ABCG1 polymorphism rs1893590 and high-density lipoprotein (HDL) in an asymptomatic Brazilian population.

ATP binding cassette transporter G1 (ABCG1) promotes lipidation of nascent high-density lipoprotein (HDL) particles, acting as an intracellular transporter. SNP rs1893590 (c.-204A>C) of ABCG1 gene has been previously studied and reported as functional over plasma HDL-C and lipoprotein lipase activity. This study aimed to investigate the relationships of SNP rs1893590 with plasma lipids and lipoproteins in a large Brazilian population. Were selected 654 asymptomatic and normolipidemic volunteers from both genders. Clinical and anthropometrical data were taken and blood samples were drawn after 12h fasting. Plasma lipids and lipoproteins, as well as HDL particle size and volume were determined. Genomic DNA was isolated for SNP rs1893590 detection by TaqMan(®) OpenArray(®) Real-Time PCR Plataform (Applied Biosystems). Mann-Whitney U, Chi square and two-way ANOVA were the used statistical tests. No significant differences were found in the comparison analyses between the allele groups for all studied parameters. Conversely, significant interactions were observed between SNP and age over plasma HDL-C, were volunteers under 60years with AA genotype had increased HDL-C (p=0.048). Similar results were observed in the group with body mass index (BMI)<25kg/m(2), where volunteers with AA genotype had higher HDL-C levels (p=0.0034), plus an increased HDL particle size (p=0.01). These findings indicate that SNP rs1893590 of ABCG1 has a significant impact over HDL-C under asymptomatic clinical conditions in an age and BMI dependent way.

Reference charts of fetal biometric parameters in 31,476 Brazilian singleton pregnancies.

The purpose of this study was to establish reference charts of fetal biometric parameters measured by 2-dimensional sonography in a large Brazilian population. A cross-sectional retrospective study was conducted including 31,476 low-risk singleton pregnancies between 18 and 38 weeks' gestation. The following fetal parameters were measured: biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight. To assess the correlation between the fetal biometric parameters and gestational age, polynomial regression models were created, with adjustments made by the determination coefficient (R(2)). The means ± SDs of the biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight measurements at 18 and 38 weeks were 4.2 ± 2.34 and 9.1 ± 4.0 cm, 15.3 ± 7.56 and 32.3 ± 11.75 cm, 13.3 ± 10.42 and 33.4 ± 20.06 cm, 2.8 ± 2.17 and 7.2 ± 3.58 cm, and 256.34 ± 34.03 and 3169.55 ± 416.93 g, respectively. Strong correlations were observed between all fetal biometric parameters and gestational age, best represented by second-degree equations, with R(2) values of 0.95, 0.96, 0.95, 0.95, and 0.95 for biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight. Fetal biometric parameters were determined for a large Brazilian population, and they may serve as reference values in cases with a high risk of intrauterine growth disorders.

Genetic susceptibility to Chagas disease cardiomyopathy: involvement of several genes of the innate immunity and chemokine-dependent migration pathways

BackgroundChagas disease, caused by the protozoan Trypanosoma cruzi is endemic in Latin America. Thirty percent of infected individuals develop chronic Chagas cardiomyopathy (CCC), an inflammatory dilated cardiomyopathy that is, by far, the most important clinical consequence of T. cruzi infection. The others remain asymptomatic (ASY). A possible genetic component to disease progression was suggested by familial aggregation of cases and the association of markers of innate and adaptive immunity genes with CCC development. Migration of Th1-type T cells play a major role in myocardial damage.MethodsOur genetic analysis focused on CCR5, CCL2 and MAL/TIRAP genes. We used the Tag SNPs based approach, defined to catch all the genetic information from each gene. The study was conducted on a large Brazilian population including 315 CCC cases and 118 ASY subjects.ResultsThe CCL2rs2530797A/A and TIRAPrs8177376A/A were associated to an increase susceptibility whereas the CCR5rs3176763C/C genotype is associated to protection to CCC. These associations were confirmed when we restricted the analysis to severe CCC, characterized by a left ventricular ejection fraction under 40%.ConclusionsOur data show that polymorphisms affecting key molecules involved in several immune parameters (innate immunity signal transduction and T cell/monocyte migration) play a role in genetic susceptibility to CCC development. This also points out to the multigenic character of CCC, each polymorphism imparting a small contribution. The identification of genetic markers for CCC will provide information for pathogenesis as well as therapeutic targets.

FCGR3B Gene Variants In Brazilians: New Alleles Should Be Considered?

Background FCGR3B gene encoding the receptor FcγRIIIb has three polymorphic forms (FCGR3B*01, FCGR3B*02 and FCGR3B*03) which represent the human neutrophil antigens HNA-1a, -1b and -1c, respectively. It has been postulated that variants of these alleles might represent new FCGR3B alleles, however there are few studies assessing the frequency of such variants in different populations. In this study we performed an analysis of the frequency of the FCGR3B alleles and its variant forms examining the polymorphic region of the FCGR3B gene in a large Brazilian population sample including healthy blood donors and patients with systemic lupus erythematosus (SLE). Study Design and Methods A segment containing the polymorphic nucleotide positions 141, 147, 227, 266 and 277 in exon 3 was sequenced from genomic DNA of 615 individuals including 310 blood donors and 305 patients with SLE. Additionally, nucleotide databases were screened for variant FCGR3B sequences. Results The allele frequencies for FCGR3B*01, FCGR3B*02 and FCGR3B*03 were 0.37, 0.59 and 0.04, respectively. In two patients with SLE (0.3%) there was no gene amplification characterizing the FCGR3B-null phenotype. Considering the 5 FCGR3B polymorphic sites, 4 variant forms were observed. One variant was linked to the FCGR3B*01 allele with SNPs occurring simultaneously in two positions: A227G and G277A (n=2; 0.3%). The other three variants, linked to the FCGR3B*02 allele were: A277G (n=8; 1.3%); C141G (n=3; 0.5%); and T147C (n=1; 0.2%). All mutations observed were missenses. The results are summarized in the Table. In 103/613 (16.8%) sequenced individuals we found 19 SNPs on 14 polymorphic sites distinct from those which characterize the FCGR3B alleles. Among the most frequent, T230A was observed in 36 cases (5.9%), T230G in 20 cases (3.3%), G249A in 6 cases (1%) and C337A in 6 cases (1%), all shown as heterozygous. The comparative analysis between the two groups of individuals revealed an association between the presence of the allele FCGR3B*01 and the HNA-1a/a and HNA-1a/b genotypes with increased susceptibility to SLE (p &lt;0.001; p = 0.028; and p = 0.012, respectively), however there was no significant correlation between these genotypes and disease severity. Discussion The observed frequencies of the FCGR3B*01, FCGR3B*02, and FCGR3B*03 alleles were similar to those reported by genotyping studies which included Europeans or North Americans individuals. The frequency of the null phenotype (0.3%) was similar to that reported by Europeans (0.2-0.8%). The variant FCGR3B*02A277G showed a frequency (1.3%) sufficiently high to be considered a new allele as proposed by the last Granulocyte Working Party/ISBT 2013. Interestingly, this variant was significantly more prevalent in patients with SLE than in blood donors (p=0.03). All the variants described in this study have been observed in different populations however we emphasize the presence of SNPs (T230A, T230G, G249A and C337A) in polymorphic sites different from those that characterize the FCGR3B gene alleles. We conclude that the FCGR3B gene is highly polymorphic and that the occurrence of new alleles must be considered, however the functional consequences of such changes has not yet been elucidated. Disclosures: No relevant conflicts of interest to declare.

Normative data for fetal cisterna magna length measurement between 18 and 24 weeks of pregnancy

The aim of this study was to determine normative data for fetal cisterna magna length (CML) measurement in a Brazilian population. This was a retrospective cross-sectional study on 3,862 normal singleton pregnancies between the 18th and 24th weeks of pregnancy. Fetal CML was measured in the axial plane of the fetal head, at lateral ventricle level, including the cavum septum pellucidum, thalamus, third ventricle, and transverse cerebellar diameter. The anteroposterior measurement was made between the posterior border of the cerebellar vermis and the internal face of the occipital bone. To assess the correlation between CML and gestational age (GA), polynomial equations were calculated, with adjustments using determination coefficient (R2). The mean CML ranged from 4.29±0.93 mm at 18 to 18+6 weeks to 5.58±1.23 mm at 24 to 24+6 weeks of pregnancy. There was a good correlation between CML and GA, best represented by a linear equation: CML=0.535+0.208*GA (R2=0.084). We established normative data for fetal CML in the second trimester of pregnancy, in a large Brazilian population.

Behavioural/emotional problems in Brazilian children: findings from parents' reports on the Child Behavior Checklist

Background. To compare Child Behavior Checklist (CBCL) findings for a large Brazilian general population sample with those for US children considering: (a) mean problem item ratings; (b) fit of the US-derived CBCL 8-syndrome model; (c) scale internal consistency measured by Cronbach's alphas; (d) effects of society, age, gender on CBCL problem scores; and (e) ability to discriminate referred from non-referred children. Methods. Parents of 1228 non-referred 6-to-11-year-olds from three different regions of Brazil and 247 referred 6-to-11-year-olds from one clinic rated their children's behavioural and emotional problems using the CBCL/6-18. Results. Results for mean item ratings and scale internal consistencies were very similar to those found in the US and in Uruguay. Confirmatory factor analysis indicated that Brazilian data showed the best fit to the US 8-syndrome model of all countries studied to date. Gender patterns were comparable to those reported in other societies, but mean problem scores for non-referred Brazilian children were higher than those for US children. Therefore, the CBCL discriminated less well between non-referred and referred children in Brazil than in the US. Conclusions. Overall, our findings replicated those reported in international comparisons of CBCL scores for 31 societies, thereby providing support for the multicultural robustness of the CBCL in Brazil.

Botanical aspects of Heteropterys umbellata (Malpighiaceae): a cytological and palynological approach

The genus Heteropterys is one of the major genera in Malpighiaceae. However, few cytological and palynological studies were reported. The present work described for the first time the chromosome number, heterochromatin pattern, meiotic behavior, pollen viability and palynological aspects of Heteropterys ubellata, a very spread species. One large Brazilian population was evaluated using conventional techniques for meiotic studies and acetolyse to access the pollen morphology. The species showed 2n = 20 chromosomes, normal meiotic development and viable pollens. Great blocks of heterochromatin were observed around the centromers. DAPI staining was positive for centroeric heterochroatin, hile CMA3 ark as observed just at terinal regions of one pair of hoologues chromosomes. This result and the presence of one chromosome pair attached to the nucleoli during the pachytene and diakinesis suggested the presence of only one pair of NORs. Palynological analysis revealed that pollen grains are apolar, 6 porate and with colpoids associated to all pores. The pollen content was positive for the starch test, and the exine was rugulate with little psilate regions.