Sample Of Brazilian Individuals Research Articles

Bone mineral density in adults with Down syndrome: a cross-sectional study in a Brazilian sample.

We aim to investigate the relationship between bone mass in a sample of Brazilian individuals with DS and handgrip strength, body mass index (BMI) and physical exercise. Dual-energy X-ray emission densitometry analysis of bone mass in 26 individuals with DS (8 men and 18 women with a mean age of 30.7±10.3years) was conducted. Additionally, weight and height were measured to determine BMI, palmar grip strength was measured using a Jammar dynamometer®, and physical activity was classified using the International Physical Activity Questionnaire (IPAQ). In this sample, 2/15 (13.3%) individuals with age between 18 to 29years had low BMD in the spine; 2/8 (25%) of those with age between 30 and 39years also had low BMD in the spine and 2/3 (66.6%) with age ≥40 had low BMD in the femur. There were significant correlations between palmar grip strength and Z femoral neck score in women (P=0.02) and between BMI and Z femoral neck score in men (P=0.04). All other correlations lacked statistical significance (P>0.05). Brazilian patients with DS showed a high prevalence of low bone mass. Traditional factors such as muscle strength, BMI and physical activity appear to have little effect on bone mineral density in this population.

Genome-Wide Association of Proprotein Convertase Subtilisin/Kexin Type 9 Plasma Levels in the ELSA-Brasil Study.

Pharmacological inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is an established therapeutic option to treat hypercholesterolemia, and plasma PCSK9 levels have been implicated in cardiovascular disease incidence. A number of genetic variants within the PCSK9 gene locus have been shown to modulate PCSK9 levels, but these only explain a very small percentage of the overall PCSK9 interindividual variation. Here we present data on the genetic association structure between PCSK9 levels and genom-wide genetic variation in a healthy sample from the general population. We performed a genome-wide association study of plasma PCSK9 levels in a sample of Brazilian individuals enrolled in the Estudo Longitudinal de Saude do Adulto cohort (n=810). Enrolled individuals were free from cardiovascular disease, diabetes and were not under lipid-lowering medication. Genome-wide genotyping was conducted using the Axiom_PMRA.r3 array, and imputation was performed using the TOPMED multi-ancestry sample panel as reference. Total PCSK9 plasma concentrations were determined using the Quantikine SPC900 ELISA kit. We observed two genome-wide significant loci and seven loci that reached the pre-defined value of p threshold of 1×10−6. Significant variants were near KCNA5 and KCNA1, and LINC00353. Genetic variation at the PCSK9 locus was able to explain approximately 4% of the overall interindividual variations in PCSK9 levels. Colocalization analysis using eQTL data suggested RWDD3, ATXN7L1, KCNA1, and FAM177A1 to be potential mediators of some of the observed associations. Our results suggest that PCSK9 levels may be modulated by trans genetic variation outside of the PCSK9 gene and this may have clinical implications. Understanding both environmental and genetic predictors of PCSK9 levels may help identify new targets for cardiovascular disease treatment and contribute to a better assessment of the benefits of long-term PCSK9 inhibition.

Non-ataxia signs in Brazilian individuals with spinocerebellar ataxia type 3

Abstract Introduction: Spinocerebellar ataxia 3 (SCA3) is a hereditary disease associated with progressive cerebellar and extracerebellar degeneration. Although there is no effective therapy for SCA3, some of its symptoms can be relieved with symptomatic treatment. Identifying the presence of this signs in patients may contribute to their clinical management and thus improve their quality of life. Objective: To identify the presence and frequency of non-ataxia signs in a sample of Brazilian individuals with SCA3 and to investigate its association with severity and duration of the disease. Methods: This is a cross-sectional study. The inclusion criteria of this study were participants should be diagnosed with SCA3 and be between 18 and 70 years old. The exclusion criteria were participants with a score of less than 18 points on the Mini Mental State Examination (MMSE) and those with other neurological or orthopedic problems. Twenty-three participants were evaluated by the Inventory of Non-ataxia Signs (INAS) and the Scale for the Assessment and Rating of Ataxia (SARA). Results: The median score found for INAS was [median (min-max)] 3 (0-6) points and 10 (2-23) for SARA. Only one participant did not show non-ataxic signs. The most prevalent non-ataxic manifestations were areflexia, urinary dysfunction, hyperreflexia and spasticity. Spearman correlation test indicated a moderate and significant correlation between INAS and SARA scores (rho = 0.428, 95% CI = 0.39-0.704, p = 0.033). There was no association between INAS scores and the disease duration (rho = 0.003, 95% CI = -0.398-0.704, p = 0.393). Conclusion: Areflexia, urinary dysfunction, hyperreflexia and spasticity were the most prevalent non-ataxic signs. We identified a moderate correlation between the presence of non-ataxic signs and disease severity. This findings can help the professionals dealing with these patients.

Atividade física e dor lombar em brasileiros: uma revisão sistemática


 
 
 
 O objetivo deste estudo é identificar e sumarizar os estudos observacionais conduzidos em território brasileiro que avaliaram as possíveis associações entre a prática de atividade física (AF) e a dor lombar (DL), bem como analisar seus métodos. Para isto, foram realizadas buscas em cinco bases de dados eletrônicas (Lilacs, Pubmed, Scielo, Sportdiscus e Web of Science), além de buscas manuais nas listas de referências. Foram incluídos estudos observacionais desenvolvidos em território brasileiro, sem restrições quanto à idade, que apresentaram análises de associações entre AF e DL, disponíveis até 10 de outubro de 2017. Dos 153 estudos inicialmente recuperados, 11 compuseram a síntese descritiva (sete deles envolvendo adultos). Das 14 análises de associação recuperadas, apenas uma apresentou associação de risco entre a prática excessiva de AF e DL, em adolescentes. A presente síntese aponta para a necessidade de importantes avanços metodológicos nos futuros estudos, tais como: a necessidade da realização de estudos longitudinais; a investigação de possíveis relações entre distintos domínios da AF e diferentes tipos de DL; a necessidade de padronização nos pontos de corte utilizados pelos instrumentos para determinar AF suficiente e a prevalência da DL; e a utilização de medidas objetivas, em paralelo ao questionário, para avaliação da AF.
 
 
 

Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition

ABSTRACTSeveral studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our study aims to expand current knowledge on levels of behavior problems and its links to cognition in a sample of Brazilian individuals with WS. A total of 25 children and adolescents with WS and their parents participated in this study. The participants’ IQs were assessed with the Wechsler Scales of Intelligence (for children or adults) and parental reports of psychopathology/behavior problems were collected using the Child Behavior Checklist (CBCL). The presence of clinically significant attention problems was a main feature in our sample of children and adolescents with WS. In the children, higher IQ scores were found to be significantly associated with less externalizing problems, while in the adolescents cognitive abilities were found to be associated with less internalizing symptoms. These results provide further insight into the links between psychopathology and behavior problems and cognitive abilities in WS, and suggest the need to take age into consideration when analyzing such relationships.

Evaluation of IL17A expression and of IL17A, IL17F and IL23R gene polymorphisms in Brazilian individuals with periodontitis

The IL23/Th17 axis plays an important role in the pathogenesis of cell-mediated tissue damage caused either by autoimmunity or immune responses against bacterial infection. Single nucleotide polymorphisms in the IL17A, IL17F and IL23R genes have been associated with several inflammatory diseases. However, these polymorphisms have not yet been studied in periodontitis. The aim of present study was to evaluate the expression of IL17A and occurrence of the IL17A (rs2275913), IL17F (rs763780) and IL23R (rs11209026) gene polymorphisms in different clinical forms or severity of periodontitis in a sample of Brazilian individuals. Peripheral blood was obtained from 30 non-smoker individuals and analyzed by flow cytometry to determine IL-17 expression. Genomic DNA was obtained from oral swabs in 180 individuals and analyzed by Real-time PCR. The study group was composed by individuals without periodontitis (control), with aggressive periodontitis (AP) and with chronic periodontitis (CP). Higher frequency of IL17A+CD4+ T cells was observed in control group. The A+ genotype from IL17A (rs2275913) was associated with lack of disease. No association was found considering the IL17F and IL23R polymorphisms. Our data suggest that IL17A and the presence of IL17A (rs2275913) A allele are associated with the absence of periodontal disease.

TNFA and IL10 Gene Polymorphisms are not Associated with Periodontitis in Brazilians

IL-10 and TNF-α are cytokines that have complex and opposing roles in the inflammatory responses. G/A polymorphisms at position –1082 of IL10 and –308 of TNFA genes have been reported to influence the expression of IL-10 and TNF-α, respectively. The aim of this study was to investigate the association between the IL10 (-1082) and TNFA (- 308) gene polymorphisms with different clinical forms or severity of periodontitis in a sample of Brazilian individuals. DNA was obtained from oral swabs of 165 Brazilian individuals, which were divided into three groups: individuals with chronic periodontitis, aggressive periodontitis and individuals without clinical evidence of periodontitis. Evaluation of IL10 and TNFA polymorphisms was performed by RFLP analysis. Statistical analysis of data was performed using the χ2 likelihood ratio and Fisher`s exact test. No significant differences in the genotype and allele distribution of either IL10 or TNFA were observed among individuals with different clinical forms or with different degrees of severity of periodontitis. Moreover, combined analysis of IL10 and TNFA polymorphisms did not show any association with periodontal status. As conclusion, the IL10 and TNFA gene promoter polymorphisms investigated are not associated with different clinical forms of periodontitis or with severity of the disease in the Brazilian population polymorphisms.

Polymorphism in the promoter region of the gene for 5-HTT in individuals with aggressive periodontitis

Susceptibility to and development of periodontal disease have been associated with psychological conditions. Previous studies have associated the presence of polymorphism in the promoter region of the serotonin transporter with several behavioral traits and psychological conditions such as depression, anxiety, and stress. The short allele S has a reduced transcriptional efficiency and is associated with lowered serotonin expression and uptake. The purpose of the present study was to investigate the association between 5-HTTLPR polymorphism and aggressive periodontitis in a sample of Brazilian individuals. This study involved 61 individuals affected by aggressive periodontitis and 71 without periodontitis. Genomic DNA was obtained from oral swabs, amplified by polymerase chain reaction (PCR), and genotyped at 5-HTTLPR. The Chi-square test and multivariate logistic regression were used for statistical analysis. The aggressive periodontitis group displayed a significantly higher occurrence of genotype SS (P < 0.01) and of allele S (P < 0.01). After adjustment for gender and age, it was observed that genotype SS occurred 8 times more frequently in this group. Our findings suggest that 5-HTTLPR polymorphism might be associated with aggressive periodontitis in the Brazilian population.

Interleukin-6 expression and gene polymorphism are associated with severity of periodontal disease in a sample of Brazilian individuals

Interleukin (IL)-6 is an inflammatory mediator involved in bone resorption. G/C polymorphism at position -174 of the IL-6 gene has been reported to influence IL-6 expression, with the G allele associated with higher expression levels. The aims of this study were to investigate the expression of IL-6 as well as the incidence of IL-6 (-174) gene polymorphism and their correlation to the severity of periodontitis in Brazilians. Peripheral blood mononuclear cells were collected from 12 non-smoker individuals with periodontitis for evaluation of IL-6 expression using flow cytometry. We observed a positive correlation between the mean clinical attachment loss and intensity of expression of IL-6, in which the greater the attachment loss, the higher the expression of IL-6 (P=0 x 007, R2=0 x 52). Also, patients with severe periodontitis displayed a higher intensity of IL-6 expression compared to moderate periodontitis (P=0 x 04). To determine the occurrence of IL-6 gene polymorphism, DNA was obtained from oral swabs of 209 Brazilian individuals with and without periodontitis. Polymerase chain reaction, restriction endonuclease digestion and electrophoresis were performed, allowing for detection of the IL-6 (-174) polymorphism. We observed that non-smokers with moderate periodontitis (P=0 x 05) and control (P=0 x 04) groups displayed a higher incidence of the G genotype when compared to severe periodontitis. This suggests that the G genotype may represent a protective role in severity of periodontitis. Thus, the increased expression of IL-6 and IL-6 (-174) polymorphism are associated with periodontal disease severity in Brazilian individuals.

The IL1A (−889) gene polymorphism is associated with chronic periodontal disease in a sample of Brazilian individuals

It has been proposed that genotypes reflective of polymorphisms in cytokine genes can predispose individuals to disease by enhancing inflammatory processes. The C/T polymorphism at position -889 of the IL1A gene influences interleukin-1alpha expression, with the T allele inducing higher expression. The aim of this study was to evaluate the association of the IL1A (-889) gene polymorphism in Brazilian individuals with different clinical forms of periodontitis and severity of disease. DNA was obtained from oral swabs of 163 Brazilian individuals and was amplified using the polymerase chain reaction (PCR). Products were submitted to digestion and were analyzed by electrophoresis to distinguish the C and T alleles. A significant difference in the genotype distribution was observed when comparing the chronic periodontitis group with the control group, evaluating only nonsmokers (chi-squared analysis = 9.91; p = 0.007), as well as when smokers were included (chi-squared analysis = 6.36; p = 0.04). Moreover, we observed a higher incidence of the T allele in the chronic periodontitis group (37.8%) when compared with the control group (18.4%) in nonsmokers (p = 0.006, odds ratio = 2.69, confidence interval = 1.27-5.68) and also when smokers were included (p = 0.03, odds ratio = 1.87, confidence interval = 0.98-3.56). No statistical difference was observed when the aggressive periodontitis group was compared with the control group. With regard to severity of disease, no statistical difference was observed. These data show an association of the IL1A (-889) polymorphism with chronic periodontitis in Brazilian individuals.

A functional interleukin‐1β gene polymorphism is associated with chronic periodontitis in a sample of Brazilian individuals

Interleukin-1 beta (IL-1 beta) is a potent inflammatory mediator and an important polymorphism in the locus +3954 (C/T) of the human IL1 B gene has been shown to affect the levels of this cytokine. This functional polymorphism has been associated with the establishment of inflammatory diseases, including periodontal disease, in European, Asian and North American populations. The aim of this study was to investigate the association between the IL1 B (+3954) gene polymorphism and the occurrence of different clinical forms of periodontitis in a sample of Brazilian individuals. This study employed a cross-sectional design involving individuals from the State of Minas Gerais in the south-eastern region of Brazil. Genomic DNA was obtained from oral swabs of 129 individuals and amplified using the polymerase chain reaction (PCR) with specific primers flanking the locus +3954 of IL1 B. PCR products were submitted to restriction endonuclease digestion and analyzed by polyacrylamide gel electrophoresis, to distinguish alleles T and C of the IL1 B gene, allowing for the determination of the genotypes and detection of the polymorphism. The chronic periodontitis group displayed a higher percentage of the T allele (28%) when compared to the aggressive periodontitis group (10.7%, chi(2)=5.24, p=0.02, OR=0.31, CI=0.11--0.88) and to control group (8.7%, chi(2)=7.11, p=0.007, OR=0.24, CI=0.08--0.73). Our data suggested that the polymorphism in the locus +3954 of IL1 B gene could be a risk factor for chronic periodontitis in a sample of Brazilian individuals.