The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.
Additional measures of in situ water quality monitoring in natural environments can be obtained through remote sensing because certain elements in water modify its spectral behavior. One of the indicators of water quality is the presence of algae, and the aim of this study was to propose an alternative method for the quantification of chlorophyll in water by correlating spectral data, infrared images, and limnology data. The object of study was an artificial lake located at Unisinos University, São Leopoldo/RS, Brazil. The area has been mapped with a modified NGB (near infrared (N), green (G) and blue (B)) camera coupled to an unmanned aerial vehicle (UAV). From the orthorectified and georeferenced images, a modified normalized difference vegetation index (NDVImod) image has been generated. Additionally, 20 sampling points have been established on the lake. At these points, in situ spectral analysis with a spectroradiometer has been performed, and water samples have been collected for laboratory determination of chlorophyll concentrations. The correlation resulted in two models. The first model, based on the multivariate analysis of spectral data, and the second model, based on polynomial equations from NDVI, had coefficients of determination (R 2 ) of 0.86 and 0.51, respectively. This study confirmed the applicability of remote sensing for water resource management using UAVs, which can be characterized as a quick and easy methodology.
The Andean Altiplano has been occupied continuously since the late Pleistocene, ~12,000 years ago, which places the Andean natives as one of the most ancient populations living at high altitudes. In the present study, we analyzed genomic data from Native Americans living a long-time at Andean high altitude and at Amazonia and Mesoamerica lowland areas. We have identified three new candidate genes - SP100, DUOX2 and CLC - with evidence of positive selection for altitude adaptation in Andeans. These genes are involved in the TP53 pathway and are related to physiological routes important for high-altitude hypoxia response, such as those linked to increased angiogenesis, skeletal muscle adaptations, and immune functions at the fetus-maternal interface. Our results, combined with other studies, showed that Andeans have adapted to the Altiplano in different ways and using distinct molecular strategies as compared to those of other natives living at high altitudes.
The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.
Revista da Sociedade Brasileira de Medicina Tropical 46(2):214-220, Mar-Apr, 2013http://dx.doi. org/10.1590/0037-8682-1708-2013 Major Article INTRODUCTION Survey of Bancroftian filariasis infection in humans and ABSTRACT Introduction:The aim of this work was to identify possible lymphatic filariasis foci in the western Brazilian Amazonian that could be established from the reports of Rachou in the 1950s. The study was conducted in three cities of the western Brazilian Amazon region -Porto Velho and Guajará-Mirim (State of Rondônia) and Humaitá (State of Amazonas). Methods: For human infection evaluation thick blood smear stained with Giemsa was used to analyze samples collected from 10pm to 1am. Polymerase chain reaction (PCR) was used to examine mosquito vectors for the presence of Wuchereria bancrofti DNA. Humans were randomly sampled from night schools students and from inhabitants in neighborhoods lacking sanitation. Mosquitoes were collected from residences only. Results: A total 2,709 night students enrolled in the Program for Education of Young Adults (EJA), and 935 people registered in the residences near the schools were examined, being 641 from Porto Velho, 214 from Guajará-Mirim and 80 from Humaitá. No individual examined was positive for the presence of microfilariae in the blood stream. A total of 7,860 female Culex quinquefasciatus specimens examined were negative by PCR. Conclusions: This survey including human and mosquito examinations indicates that the western Amazon region of Brazil is not a focus of Bancroftian filariasis infection or transmission. Therefore, there is no need to be included in the Brazilian lymphatic filariasis control program.
Twin births are an important public health issue due to health complications for both mother and children. While it is known that contemporary factors have drastically changed the epidemiology of twins in certain developed countries, in Brazil, relevant data are still scarce. Thus, we carried out a population-based study of live births in spatial and temporal dimensions using data from Brazil's Live Birth Information System, which covers the entire country. Over 41 million births registered between 2001 and 2014 were classified as singleton, twin or multiple. Twinning rates (TR) averaged 9.41 per 1,000 for the study period and a first-order autoregressive model of time-series analysis revealed a global upward trend over time; however, there were important regional differences. In fact, a Cluster and Outlier Analysis (Anselin Local Moran's I) was performed and identified clusters of high TR in an area stretching from the south of Brazil's Northeast Region to the South Region (Global Moran Index = 0.062, P < 0.001). Spearman's correlation coefficient and a Wilcoxon matched pairs test revealed a positive association between Human Development Index (HDI) and TRs in different scenarios, suggesting that the HDI might be an important indicator of childbearing age and assisted reproduction techniques in Brazil. Furthermore, there was a sharp increase of 26.42% in TR in women aged 45 and over during study period. The upward temporal trend in TRs is in line with recent observations from other countries, while the spatial analysis has revealed two very different realities within the same country. Our approach to TR using HDI as a proxy for underlying socioeconomic changes can be applied to other developing countries with regional inequalities resembling those found in Brazil.
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.
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