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Brazilian quilombos are communities formed by enslaved Africans and their descendants all over the country during slavery and shortly after its abolition. Quilombos harbor a great fraction of the largely unknown genetic diversity of the African diaspora in Brazil. Thus, genetic studies in quilombos have the potential to provide important insights not only into the African roots of the Brazilian population but also into the genetic bases of complex traits and human adaptation to diverse environments. This review summarizes the main results of genetic studies performed on quilombos so far. Here, we analyzed the patterns of African, Amerindian, European, and subcontinental ancestry (within Africa) of quilombos from the five different geographic regions of Brazil. In addition, uniparental markers (from the mtDNA and the Y chromosome) studies are analyzed together to reveal demographic processes and sex-biased admixture that occurred during the formation of these unique populations. Lastly, the prevalence of known malaria-adaptive African mutations and other African-specific variants discovered in quilombos, as well as the genetic bases of health-related traits, are discussed here, together with their implication for the health of populations of African descent. [ABSTRACT FROM AUTHOR]

The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice. [ABSTRACT FROM AUTHOR]

The article discusses research on the impact of caffeine supplementation on strenuous intermittent exercise performance of soccer players. It describes the use of caffeine as ergogenic supplement in various sports. Details about the subject selection process, experimental protocol followed, and diet supplementation performed are reported. A chart comparing muscle pain encountered by caffeine and placebo groups after sprints is also presented.

Background: Renal failure is common among older patients with sickle cell disease; this is preceded by subclinical glomerular hyperfiltration. Data about renal function of adults with sickle cell disease have been reported, but data on children is scarce, especially when comparing heterozygotic and homozygotic patients. Objective: The goal of this study was to investigate the glomerular filtration rate of heterozygotic and homozygotic children with sickle cell disease. Methods: The glomerular filtration rate of 11 children with sickle cell disease [7 homozygotic (SS) and 4 heterozygotic (SC)] with a mean age of 11 years (standard deviation: ± 5 years) was evaluated using standard laboratory techniques. Results are presented as descriptive analysis. Results: Our results suggest that glomerular hyperfiltration is present in children with sickle cell disease; this is more evident in homozygotic than heterozygotic children. Conclusion: There is evidence of a need to monitor the renal function of children with sickle cell disease when special attention should be paid to homozygotic patients. [ABSTRACT FROM AUTHOR]

The relationship between the Renin-Angiotensin-Aldosterone System (RAAS) and modulation of the Autonomic Nervous System (ANS) is reported as complex and bidirectional. Thus, the present study aimed to compare autonomous heart control, through symbolic analysis parameters, in the older adults carrying different ACE I/D gene polymorphisms (rs4646994). Two hundred four older adults comprised the study population and were grouped according to the ACE I/D gene polymorphism: II + ID genotype and DD genotype. Successive RR intervals were recorded along 5 min and analyzed with Symbolic Analysis (SA) method. 0 V%, 1 V% and 2 V% patterns were quantified and compared between groups. A linear mixed model analysis was used to determine between-group differences in symbolic analysis parameters (0 V%, 1 V% and 2 V%), taken groups as fixed factor and sex, use of ACE inhibitors and Angiotensin II receptor type I blockers as random factors. The Bayesian analysis was carried out to check the magnitude of the evidence. The results of this study indicate that older adults carrying the DD genotype have statistically greater sympathetic modulation (0 V%) and poor sympathovagal balance (1 V%), but the Bayesian analysis indicate only an anecdotal effect. Sympathetic predominance is recognized a worrying condition, since may predisposes to cardiovascular risk. • The sympathetic portion of the Autonomic Nervous System stimulates renin secretion. • Many elements of the RAAS stimulate the sympathetic and inhibit the parasympathetic activity. • ACE I/D gene polymorphism is associated to hypertension in young people. • Older adults carrying DD genotype exhibited greater sympathetic modulation. • Older adults carrying DD genotype also exhibited poor sympathovagal balance. [ABSTRACT FROM AUTHOR]