Fatores associados ao nível de segurança alimentar e nutricional no município e estado de São Paulo e no Brasil: uma análise dos resultados obtidos pela escala brasileira de insegurança alimentar / Food and nutritional security level associated factors in the city and state of São Paulo and in Brazil: an analysis of obtained results from the Brazilian food insecurity scale

A falta de segurança alimentar e nutricional (SAN) consiste em um fenômeno multifatorial, que pode afetar o estado nutricional do indivíduo por ela acometido de diversas maneiras e em qualquer faixa etária. A falta de SAN pode desencadear tanto desnutrição, como obesidade e assim favorecer o aumento da prevalência de doenças crônicas não transmissíveis, o que diminui a qualidade de vida e se constitui um importante problema de saúde pública. Objetivo: Analisar e comparar a força da associação dos fatores socioeconômicos e demográficos à segurança alimentar e nutricional (SAN) no Brasil e áreas geográficas selecionadas. Metodologia: Trata-se de um estudo ecológico, transversal e analítico, que utilizou como base os microdados da Pesquisa de Orçamento Familiar (POF/IBGE), realizada nos anos de 2017-2018, envolvendo 757 famílias residentes no município de São Paulo (MSP), 3.406 famílias do estado de São Paulo (ESP) e 49.365 famílias do Brasil. Utilizou-se a técnica de regressão logística multinomial, do tipo ordinal, para o processamento do modelo de associação entre o nível de SAN (nSAN) e as variáveis demográficas, socioeconômicas e clínicas, utilizando o módulo survey do Stata versão 14. Adotouse o nível de significância estatística de 5% e o odds ratio proporcional para descrever as associações. Resultados: A grande maioria dos indivíduos de referência dos domicílios componentes da amostra é do sexo masculino, adulta, com obesidade, sem seguro saúde e que não fazem nenhum tipo de dieta, variando as características de raça/cor e escolaridade entre as três localidades analisadas. Para as três localidades estudadas, encontrou-se proporções elevadas da população com segurança alimentar e nutricional garantida (acima de 59%). As associações encontradas demonstraram que as famílias com pessoas de referência do sexo feminino apresentam maior chance de piora do nSAN, bem como aquelas com menores níveis de saneamento básico e estratos de renda mais pobres, para os quais a chance de piora do nSAN em relação aos estratos de renda mais ricos se eleva em até 12 vezes. Ser de raça branca foi fator protetor à IAN, bem como ter idade mais avançada e mais anos de escolaridade. Conclusão: As características sociodemográficas sexo, raçacor, idade e escolaridade, e socioeconômicas, renda e presença de saneamento básico, apresentam importante associação ao nível de SAN das famílias, quando este é analisado por meio da Escala Brasileira de Insegurança Alimentar (EBIA). Entretanto, faz-se necessária a construção de um instrumento que avalie todas as dimensões da SAN

Lack of food and nutrition security (FNS) is a multifactorial phenomenon, which can impact the nutritional status of individual affected by it in different ways and in any age group. The lack of FNS can trigger both malnutrition and obesity and thus favor the prevalence increase of chronic non-communicable diseases, which reduces lifes quality and constitutes an important public health problem. Objective: To analyze and compare the strength of association of socioeconomic and demographic factors with FNS in Brazil and selected geographical areas. Methodology: Ecological, crosssectional, and analytical study, which used the microdata of the Research as a basis Family Budget (POF / IBGE), carried out in 2017-2018, involving 757 families residing in São Paulo city (SPC), 3,406 families from São Paulo state (SPS) and 49,365 families from Brazil. Multinomial logistic regression technique, of the ordinal type, was used to process the association model between the FNS level (FNSl) and the demographic, socioeconomic and clinical variables, using the survey module of Stata version 14. It was adopted statistical significance of 5% and proportional odds ratio to describe the associations. Results: Most reference individuals in the sample's households are male, adult, obese, without health insurance and who do not follow any type of diet, varying the characteristics of race / color and education between the three locations analyzed. For the three locations studied, high proportions of the population were found with guaranteed FNS (above 59%). Associations found showed that families headed by female individuals are more likely to worsen FNSl, as well as those with lower levels of basic sanitation and poorer income strata, for which the chance of worsening FNSl in relation to strata wealthier income rises to 12 times. Being white was a protective factor for food insecurity, as well as being older and with more years of schooling. Conclusion: Sociodemographic characteristics of sex, race-color, age and education, and socioeconomic, income and presence of basic sanitation, present important association at the FNSl of families, when this is analyzed through the Brazilian Food Insecurity Scale (EBIA). However, it is necessary to build an instrument that assesses all dimensions of the FNS

Free acquisition of psychotropic drugs by the Brazilian adult population and presence on the National List of Essential Medicines

Abstract The aims of the present study were to estimate the free-of-charge acquisition of psychotropic drugs among Brazilian adults; analyze the distribution of psychotropics according to their presence on the Relação Nacional de Medicamentos Essenciais (RENAME [National List of Essential Medicines]) and acquisition according to the source of funding (free of charge or direct payment); and estimate the proportion of free-of-charge psychotropic drugs according to therapeutic class and presence on the RENAME. This study involved the analysis of data from the 2014 National Survey on the Accessibility, Use and Promotion of the Rational Use of Medicines considering psychotropic drugs used by the adult population (≥20 years; n = 32,348). The prevalence of the acquisition of free-of-charge psychotropic drugs was 53.3% and 64.6% of these drugs were on the RENAME. Among the psychotropic drugs acquired by direct payment, 70.8% were not on the national list. Regarding free-of-charge acquisition according to the therapeutic class and presence on the RENAME, differences were found for antidepressants, anxiolytics and antipsychotics (p <0.05). In conclusion, the most used psychotropic medicines were listed in the RENAME, but free-of-charge acquisition was not provided for all of them

Use of medication and associated factors in adults living in Rio Branco, Acre. Use of medication in adults

Abstract We analyzed use of medication and associated factors in adults aged 18-59 years living in Rio Branco, Acre. This is a cross-sectional and population-based study that used a probabilistic sample of the population from rural and urban areas of the city of Rio Branco, Acre. The Prevalence Ratio (PR) was calculated with 95% confidence intervals and associations were estimated by Poisson regression. This study found a 29.4% prevalence ratio of use of medication among individuals aged from 18 to 59 years (685 adults: 473 women and 212 men; producing estimates for 211,902 adults: 110,769 women and 101,133 men). After adjusted analysis, their use was associated with: age (50-59 years, PR: 2.36; 95%CI: 2.29-2.43); women (PR: 1.25; 95%CI: 1.23-1.27); up to elementary school (PR: 1.13; 95%CI: 1.11-1.15); and poor or very poor self-rated health (PR: 1.47; 95%CI: 1.43-1.51). The health conditions associated with use of medication were: number of comorbidities, hypertension, diabetes, insomnia, depression, number of health complaints and use of health services. The most frequently used drugs were those belonging to the following ATC categories: alimentary tract and metabolism, cardiovascular system, nervous system, and the musculoskeletal system.

Estudio cadavérico de anteversión de cuello femoral en Población de Indonesia / Cadaveric Study Of Femoral Neck Anteversion In Indonesian Population

Objective: The normal morphology of femoral anteversion is an essential factor which determines the clinical results of hip replacement to achieve the normal activity and the length of the replaced joint. No previous study has been documented regarding normal value of femoral anteversion in Indonesian population and how they are different with Western, India and African population. This study aimed on measurement of normal femoral anteversion values of Indonesian population and compare it with existing data of Western, African and India values. Method: This cross-sectional study by measuring the femoral neck anteversion angle in 120 samples of Indonesians's cadaveric femur. Comparisons were made between Western, African and India. Result: The result showed that the average values of femoral neck anteversion angle in men were 11.60 ± 4.83 and 12.96 ± 5.1 in the right and left parts respectively, while in women, the results were 14.83+-5.14 and 13.37+-5.66 in right and left parts. The p value of ≤ 0.05 was considered to be significant. Conclusion: The mean femoral anteversion values of Indonesian population is 13.22. It is significantly different in comparison with Western, African, and Indian population.

Pharmacogenetic implications in the management of metabolic diseases in Brazilian populations

Dyslipidemia, diabetes, obesity and hypertension are common metabolic diseases. In the last decades, unhealthy lifestyle and aging have leads to an increased incidence of these diseases, increasing morbidity and mortality by cardiovascular causes. The treatment of metabolic diseases includes life-style interventions as healthy diet and physical exercise, as well as pharmacological interventions. Several drugs are available for the management of metabolic diseases including among others lipid-lowering antidiabetics and antihypertensive drugs. Variability in response to these drugs is influenced by both genetic and non-genetic factors. Polymorphisms in genes related to drug pharmacokinetics and pharmacodynamics have been shown to influence drug efficacy and safety. This review is focused on pharmacogenetic studies related to the management of metabolic diseases in samples of the Brazilian population. Associations of variants in drug metabolizing enzymes and transporters, drug target and metabolism-related genes with the efficacy and safety of lipid-lowering, antidiabetic and antihypertensive drugs are described. Most pharmacogenetic studies in Brazil have focused in pharmacological response to a small group of drugs, as statins and some antihypertensives, while there are almost no studies on antidiabetic and antiobesity drugs. Some studies reported significant associations of gene polymorphisms with drug response confirming previous data from other populations, whereas other works did not replicate, which may relay on the genetic admixture of our population. In conclusion, further studies are necessary considering larger sample sizes, new unexplored drugs and more genetic variants to obtain stronger conclusions to explore clinical applications of pharmacogenetic studies in our population.

Estudo da mutação da STAT5B em Criciúma-Santa Catarina: frequência e caracterização fenotípica de indivíduos heterozigotos / Study of STAT5B mutation in Criciúma - Santa Catarina: frequency and phenotypic characterization of heterozygous individuals

Mutações inativadoras em homozigose no gene do transdutor de sinal e ativador de transcrição 5B (STAT5B) causam insensibilidade ao hormônio de crescimento associada a disfunção imunológica grave que se manifesta na forma de infecções exacerbadas e de repetição, pneumonia intersticial linfocítica e outros eventos autoimunes. A caracterização do fenótipo destas mutações em heterozigose não foi realizada previamente. Dois pacientes descritos com mutação em homozigose na STAT5B (c.424_427del / p.L142RfsX19) são irmãos brasileiros naturais de Criciúma - Santa Catarina, sem consanguinidade conhecida na família. Houve também o relato de dois outros casos semelhantes na cidade, já falecidos, sugerindo que mutações na STAT5B pudessem ser relativamente frequentes nesta região. Os objetivos deste estudo foram investigar a frequência da mutação c.424_427del da STAT5B na população de Criciúma, avaliar a existência de efeito fundador e caracterizar o efeito da mutação c.424_427del da STAT5B em heterozigose sobre o fenótipo antropométrico e hormonal. Para investigar a frequência desta mutação em Criciúma, 1192 indivíduos da população foram genotipados. Foram identificados sete indivíduos heterozigotos, caracterizando uma frequência alélica mínima de 0,29% (intervalo de confiança 95%: 0,08 a 0,5%), significativamente mais alta que a frequência de outras variantes patogênicas da STAT5B descritas em bases de dados públicas. Utilizando-se o equilíbrio de Hardy-Weinberg, foi possível estimar a incidência de casos de homozigotos para o alelo mutado em um a cada 40 anos. No entanto, utilizando-se a maior frequência possível de acordo com o intervalo de confiança, esta incidência poderia atingir um a cada 13 anos. Além disso, foram estudados os pais dos dois casos relatados como semelhantes aos pacientes homozigotos para mutações na STAT5B e estes pais eram portadores da mutação c.424_427del da STAT5B em heterozigose. Para avaliar o efeito fundador, foram analisados dois...

Homozygous inactivating mutations in signal transducer and activator of transcription 5B gene (STAT5B) cause growth hormone insensitivity associated with signs of severe immune dysfunction, such as recurrent infections, lymphoid interstitial pneumonia and other autoimmune events. The phenotypic characterization of these mutations in heterozygous state has not been accomplished previously. Two patients with a homozygous STAT5B mutation (c.424_427del / p.L142RfsX19) are Brazilian brothers born in the city of Criciúma, Santa Catarina, and there is not known consanguinity in their family. Moreover, there was a report about two similar cases in this city, already deceased, suggesting that STAT5B mutations could be relatively frequent in this region. The objectives of this study were to evaluate the frequency of STAT5B c.424_427del mutation in Criciúma, to assess the existence of the founder effect and to characterize the effect of heterozygous STAT5B c.424_427del mutation on anthropometric and hormonal phenotypes. To evaluate the frequency of this mutation in Criciúma, 1192 individuals from the population were genotyped. Seven heterozygous individuals were identified, which characterized a minimum allele frequency of 0.29% (95% confidence interval: 0.08 to 0.5%), significantly higher than the frequency of other pathogenic variants described in public databases. By using the Hardy-Weinberg law, it was possible to estimate the incidence of cases of individuals homozygous for this mutation at one every 40 years. However, by using the highest possible frequency according to the confidence interval, this incidence could reach one every 13 years. Additionally, the parents of the two reported cases who were similar to patients with homozygous STAT5B mutations were genotyped and these parents were heterozygous for STAT5B c.424_427del mutation. To assess the founder effect, two markers near the mutation were analyzed in the two boys homozygous...

Insertion-deletions burden in copy number polymorphisms of the Tibetan population.

BACKGROUND: Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region. AIMS AND OBJECTIVES: To map the functionally significant sites within human genes that are likely to influence human traits and diseases. MATERIALS AND METHODS: In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6.0 chip. InDel polymorphisms in these copy number polymorphism regions were identified with a computational approach using the 2500 deoxyribonucleic acid sequences obtained from the 1000 Genome Project. RESULTS: The study identified a total of 95935 inDels that range from 1 bp to several bps in length which were found scattered across regulatory regions, exons and in introns of genes underlying the CNVs. A study on the distribution of inDels revealed that the majority of inDels were found in coding regions of the genome than the noncoding, while within the genes, inDels in intron regions were more followed by exonic regions and finally the regulatory regions. CONCLUSION: Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs.

Origen y composición genética de la población cubana / Origin and genetic composition of the Cuban population

Se hace una revisión a partir de la aparición del Homo sapiens en el continente africano y el comienzo de las migraciones hacia diferentes regiones geográficas, que condujeron después a la llegada del hombre primitivo a América y su desplazamiento a través de América del Norte hasta llegar a Sudamérica, y desde aquí a las islas del Caribe. Se comenta cómo influyó la llegada de los españoles sobre las poblaciones indígenas caribeñas y su contribución a la introducción de negros provenientes de las colonias africanas en esta región del mundo. Se analizan diversos trabajos científicos realizados fundamentalmente en Cuba, que demuestran, mediante diferentes marcadores bioquímicos y moleculares, la gran mezcla étnica de la población cubana, constituida sobre todo por blancos caucasoides, negros africanos y mulatos resultantes de la mezcla de ambas poblaciones y, en menor proporción y sin significación evidente, de otras poblaciones como son la china y la indoamericana

A literature review was made on the emergence of Homo sapiens in the African continent and the beginning of migration towards different geographic regions; this led to the arrival of the primitive man to the America and his movement through the North America to South America, and from this place to the Caribbean Islands. The impact of the arrival of Spaniards on the Caribbean native populations and their contribution to the introduction of Black people from the Arican colonies located in this region of the world were also commented on. Likewise, several scientific works mainly carried out in Cuba were analyzed, since they prove the great ethnic admixture of the Cuban population basically made up of Caucasians, African blacks and mulattos; being the latter the result of the mixture of the first two population groups and to a lesser extent of other populations like Chinese and IndoAmerican, but without evident significance

A cor dos ossos: narrativas científcas e apropriações culturais sobre 'Luzia', um crânio pré-histórico do Brasil / The color of the bones: scientific narratives and cultural appropriation about 'Luzia', a prehistoric skull of the Brasil

Ao longo da primeira década do século XXI o crânio de uma mulher escavado em Lagoa Santa, Minas Gerais, tornou-se um ícone científico e cultural no Brasil. 'Luzia', como ficou conhecida a peça, é tida como um dos mais antigos remanescentes ósseos humanos das Américas, com aproximadamente 11.500 anos. São analisados aqui discursos e representações sobre e em torno dessa peça pré-histórica. Situado entre os domínios da natureza e da cultura, o espécime foi transubstanciado em um indivíduo dotado de características pessoais próprias, além de relacionado aos debates sobre a ancestralidade biológica e cultural do povo brasileiro. Exploram-se as apropriações socioculturais sobre Luzia, que envolvem questões relativas a disputas científicas sobre primazias e temporalidades na ocupação do continente americano, assim como representações da pré-história. Em particular, argumenta-se que os debates em torno do crânio se situam na interface entre raça, ciência e sociedade no Brasil contemporâneo.

Análisis de la estructura genética en una muestra poblacional de Bucaramanga, departamento de Santander / An assessment of genetic structure in a Bucaramanga, department of Santander, population sample

Introducción: El fenómeno de sub-estructura en las poblaciones ha tenido desde hace varios años un abordaje amplio, que se enfocó, entre otros, en la identificación y cuantificación de la mezcla étnica presente en estudios de mapeo asociativo, para comprobar la asociación de marcadores polimórficos en el desarrollo de enfermedades comunes complejas, como responsable de falsos positivos. No obstante el reconocimiento de este problema, no se tiene suficiente información genética en el contexto nacional ni local que permita determinar la posible diferenciación de subgrupos poblacionales en cada región en particular. Objetivo: Determinar la estructura genética en una muestra poblacional de la ciudad de Bucaramanga, a partir del análisis de 19 marcadores microsatélites autosómicos en distintos subgrupos poblacionales. Metodología: De la base de datos del Laboratorio de Genética Humana de la Universidad Industrial de Santander, se seleccionaron aleatoriamente 350 muestras de ADN, y se amplificaron 19 marcadores autosómicos Short Tandem Repeat mediante los "kits Powerplex® 16 y FFFL (Promega)".Resultados: En el análisis de equilibrio Hardy Weinberg, no se obtuvieron diferencias estadísticamente significativas en 18 de 19 marcadores Short Tandem Repeat autosómicos analizados en la población de Bucaramanga. El único marcador que mostró no estar en equilibrio Hardy Weinberg en la población de Bucaramanga fue el F13B (valor de significancia de p=0.00264, después de aplicar la corrección de Bonferroni). Discusión: Las poblaciones representadas en los seis estratos socioeconómicos mostraron alta diversidad genética intragrupos, que ratificó una alta variabilidad entre los individuos de la ciudad de Bucaramanga, acorde con el bajo valor de FST entre distintos grupos, determinado en el análisis molecular de varianza con base en frecuencias alélicas observadas para los 19 Short Tandem Repeat analizados.

Introduction: The phenomenon of substructure in the populations has been greatly analyzed for several years, and it has been focused especially on the identification and quantification of ethnic mixture present in studies of associative mapping to verify the association of polymorphic markers in the development of complex and common diseases responsible for false positives. Nevertheless, despite the recognition of this issue, there is insufficient genetic information within the national or local contexts that allow assessing the possible differentiation of population sub-groups in each particular region. Objective: To determine the genetic structure in the city of Bucaramanga through the analysis of 19 autosomal microsatellite markers in different subgroups of the population. Methodology: A total of 350 DNA samples were randomly selected from the database of the Human Genetic Laboratory at Universidad Industrial de Santander by using Epi Info version 6.04 2001. Also, 19 Short Tandem Repeat markers were amplified using "kits Powerplex® 16 and FFFL (Promega)". Results: In the Hardy Weinberg equilibrium analysis (100 steps in Markov chain and 1000 dememorization steps), no statistically significant differences in 18 out of the 19 analyzed STRs markers in the population of Bucaramanga were obtained. A unique marker that proved not present in HWE in the population of Bucaramanga was the F13B (for a significance value of p=0.00264, after applying the Bonferroni correction). Discussion: The populations represented in the six socioeconomic levels presented high genetic diversity intragroups, which ratified the high variability among the individuals in this city according to the low value of FST for different groups, determined via the molecular analysis of variance based on the allelic frequencies observed for the 19 analyzed Short Tandem Repeats.

Natural selection among Kinnaura of the Himalayan highland: A comparative analysis with other Indian and Himalayan populations.

The present investigation on fertility and mortality differential among Kinnaura of the Himalayan highland is based on data collected from 160 post-menopausal women belonging to the middle and high altitude region of Kinnaur district of Himachal Pradesh (Indian Himalayas). Selection potential based on differential fertility and mortality was computed for middle-and high-altitude women. Irrespective of the methodology, the total index of selection was found to be highest among middle-altitude women (0.386) as compared with high-altitude (0.370) women, whereas for the total population it is estimated to be 0.384. It was found that the Kinnaura of the Himalayan highland showing moderate index of total selection and relative contribution of the mortality component (Im) to the index of total selection is higher than the corresponding fertility component (If). The analysis of embryonic and post-natal mortality components shows that the post-natal mortality components are higher in comparison with the embryonic mortality components among highlanders and needs special intervention and health care. The present findings are compared with other Indian tribes as well as non-tribes of the Himalayan region and other parts of the country. It reveals that this index among Kinnaura is moderate than the other population groups; among the Himalayan population, the highest was reported for Galong (It = 1.07) of Arunachal, whereas the lowest was reported from Ahom (It = 0.218) of Manipur. The correlation and regression analysis between total index of selection (It) and fertility (If) and mortality (Im) components for pooled data of populations of the Indian Himalayan states show that If and Im account for 21.6 and 29.1% variability, respectively. In Crow's total index of selection (It) along with strong association, which is significant at the 1% level, this indicates that mortality plays a greater role in natural selection in comparison with fertility among populations of the Indian Himalayas.

Microsatellite diversity among the primitive tribes of India.

The present study was undertaken to determine the extent of diversity at 12 microsatellite short tandem repeat (STR) loci in seven primitive tribal populations of India with diverse linguistic and geographic backgrounds. DNA samples of 160 unrelated individuals were analyzed for 12 STR loci by multiplex polymerase chain reaction (PCR). Gene diversity analysis suggested that the average heterozygosity was uniformly high ( >0.7) in these groups and varied from 0.705 to 0.794. The Hardy-Weinberg equilibrium analysis revealed that these populations were in genetic equilibrium at almost all the loci. The overall GST value was high (GST = 0.051; range between 0.026 and 0.098 among the loci), reflecting the degree of differentiation/heterogeneity of seven populations studied for these loci. The cluster analysis and multidimensional scaling of genetic distances reveal two broad clusters of populations, besides Moolu Kurumba maintaining their distinct genetic identity vis-à-vis other populations. The genetic affinity for the three tribes of the Indo-European family could be explained based on geography and Language but not for the four Dravidian tribes as reflected by the NJT and MDS plots. For the overall data, the insignificant MANTEL correlations between genetic, linguistic and geographic distances suggest that the genetic variation among these tribes is not patterned along geographic and/or linguistic lines.

Y-haplotypes and idiopathic male infertility in an Indian population.

Infertility being a multifactorial disorder, both genetic and environmental factors contribute to the etiology of infertile phenotype. Chromosomal anomalies and Y-microdeletion are the established genetic risk factors of male infertility. Y-haplotypes has been found as risk factor for male infertility in certain populations, though in certain others no association has been reported, suggesting a population-specific association of these variations with male infertility. In a case-control study, 165 azoo-/oligospermic patients and 200 controls were haplotyped for certain Y-haplogroups for a possible association with idiopathic male infertility in an Indian population. Analysed Y-haplogroups showed no association with infertile phenotype. Thus this genetic factor is not a risk for infertility in the studied Indian population but that does not rule out the possibility of any of them, to be a risk in other populations.

Diversidad genética en poblaciones humanas de dos regiones colombianas / Genetic diversity in human populations of two regions from Colombia

Introducción: Estudios preliminares han mostrado la existencia de relaciones genéticas entre las poblaciones humanas del sur-occidente y las de la región andina colombiana, teniendo esto implicaciones en el grado de miscegenación de estas comunidades. No obstante el reconocimiento de este amplio proceso de mestizaje, no se tiene suficiente información que permita establecer la estructura y el grado de diversidad genética para cada región en particular y de la población colombiana en general. Objetivo: Determinar la estructura y diversidad genética presente en grupos poblacionales del centro y sur-occidente colombiano. Metodología: Se analizaron las frecuencias alélicas de 12 sistemas de microsatélites autosómicos y el tipo y frecuencia de RFLPÆs de mtDNA presentes en 472 individuos de tres grupos étnicos: mestizos, indígenas y afroamericanos. Resultados: La caracterización de haplotipos de mtDNA en individuos afrodescendientes presentó 15% de marcadores típicos amerindios y 43% de africanos. El anßlisis de la diversidad genética mostró un índice de 0.72 en individuos Pijaos, valor cercano al índice de diversidad de la población mestiza de Cali (0.75). El analisis molecular de varianza (AMOVA) a partir de los 12 STRÆs, mostró que la estructuración genética no es significativa (FST de 0.032); adicionalmente se evidenció alta endogamia en la muestra mestiza de Caldas (0.43) y en la muestra indígena Coyaima (0.34).Conclusiones: Con los marcadores moleculares estudiados se estableció la estructura genética de poblaciones del sur-occidente colombiano confirmandose adicionalmente el grado de miscegenación y el flujo genético ocurrido entre diferentes grupos étnicos del centro y sur-occidente colombiano.

Introduction: Preliminary studies have showed close relations among southwest human populations and Andean region leaving it consequences in ethnic admixe process. However, this wide process of racial admixture today it is not exist sufficient information to define structure and genetic diversity for each region and Colombian population in general. Objectives: The principal goal from this study was to determinate the genetic structure and diversity present into human populations from Andean and Southwest Colombia regions. Methods: This study was realized by characterization allelic frequencies of 12 autosomal STRÆs and six RFLPÆs of mtDNA presents in 472 individuals from three ethnics groups: Caucasoids, Afroamericans and Amerindians. Results: mtDNA haplotypes presents in Afrodescends sample was 15% and 43% typical Amerindian and African markers respectively; the genetics diversity analysis shows a value of 0.72 in Pijao indigenous, these values are close to diversity index of mestizos from Cali (0.75). AMOVA of allelic frequencies from 12 STRÆs shows that genetic structures donÆt was significatively different (FST de 0.032); in addition itÆs to exhibit high endogamy in mestizos from Caldas sample (0.43) and Coyaima indigenous (0.34). Conclusions: was established genetic structure for southwest Colombian population. Additionally, the results confirm the mixing process and the genetics flow among many populations groups from Andean and southwest Colombia regions.

Nefritis Lúpica: Factores asociados y pronósticos en una población multiétnica / Lupus nephritis: Associate factors and forecasts in a multiethnic population

El compromiso renal es reconocido como una de las complicaciones más serias en el LES y es uno de los factores más importantes de mal pronóstico. Numerosos estudios epidemiológicos en pacientes con NL han sido publicados y más de trece factores de riesgos independientes predictores de progresión han sido identificados. En este trabajo estudiamos los factores demográficos e inmunológicos asociados con el desarrollo de NL en una población multiétnica y analizamos los diferentes factores que afectan el pronóstico de la NL con énfasis en el rol de los AAF y las diferentes clases histopatológicas de NL.Se evaluaron retrospectivamente 156 pacientes que cumplían con los criterios de LES acorde al ACR (182), con biopsia renal compatible con el diagnóstico de NL atendidos en la unidad de Lupus del hospital St. Thomas ‘s de la ciudad de Londres y en la unidad de reumatología del hospital Córdoba de la ciudad de Córdoba en los últimos 12 años. 110 pacientes fueron estudiados en la unidad de lupus del hospital St. Thomas ´s y 47 pacientes fueron incluídos en la unidad de reumatología del hospital Córdoba.Los datos demográficos, presentación clínica, laboratorio y tratamiento fueron recolectados de las historias clínicas al momento de la biopsia renal. Las biopsias renales fueron clasificadas acuerdo a los criterios de clasificación de la glomerulonefritis lúpica ISN/RPS 2004 (433). Los índices de actividad y cronicidad fueron estimados acorde al sistema modificado por Austin (19). Las lesiones histopatológicas sugestivas de NSAF fueron evaluadas por los patólogos ciegos de los datos clínicos. El pronóstico renal fue evaluado por el desarrollo de insuficiencia renal crónica definida por la duplicación del nivel de creatinina sobre el valor basal, el desarrollo de enfermedad renal terminal definida por la necesidad de diálisis o trasplante renal, y muerte. El filtrado glomerular fue medido por EDTA-GFR.

¿Eciste alguna relación entre el consumo de psicofármacos en las mujeres y los esterotipos de género?: un estudio epidemiológico en una población femenina año 2004 / Is there any relation between the consumption of psychoactive drugs in the women and the sterotypes of gender?: an epidemiological study in a feminine population year 2004

Esta Tesis es un estudio epidemiológico en una población femenina de la ciudad de Córdoba durante el año 2004. Su desarrollo pone en evidencia la relación existente entre el consumo de psicofármacos en las mujeres y los estereotipos de género. Esta perspectiva tiene como una de sus premisas que la violencia ejercida sobre la mujer tiene una larga historia de gestación, desarrollo, justificación y ocultación. Se incorpora en el análisis del consumo de los psicofármacos, el género, como constructo social que nos permite desarrollar conocimientos concretos sobre las situación de las mujeres. El concepto de malestar (ansiedad, inquietud, frustración) introduce una nueva categoría que desarticula el dualismo salud/ enfermedad, y alude a los sufrimientos emocionales de las mujeres como emergentes de su condición de tales. Se ofrecen criterios de análisis que indican de que manera las condiciones de vida de las mujeres, en especial la vida cotidiana (sobrecarga de trabajo, y/o sobrecarga emocional) repercuten de modo decisivo sobre sus modos de enfermar. Este trabajo es solo el comienzo, algo imperfecto e inacabado, pero que puede señalar una apertura para seguir en el camino de la revisión de las certezas heredadas.

COL1A1 SP1 binding site polymorphism is associated with otosclerosis in two independent populations

Otosclerosis is one of the most common causes of acquired hearing loss. Although the etiology of otosclerosis is unknown, there is a well established genetic predisposition. One of the most important candidate genes is the collagen type I-a1 gene [COL1A1]. A single nucleotide polymorphism affecting a binding site for the transcription factor Sp1 in COL1A1 has been associated with an increased risk of otosclerosis. To verify the possible association between the polymorphism of the Sp1 binding site of COL1A1 and otosclerosis. Polymerase chain reaction followed by restriction enzyme digestion was used to determine the polymorphic distribution of the COL1A1 Sp1 binding site in patients with otosclerosis and in control subjects. In the first part of the study, we enrolled 89 Egyptian otosclerotic patients and 89 healthy control subjects. The second part was conducted in Switzerland, on 52 patients with otosclerosis and 52 controls. The Sp1 allelic frequencies in the Egyptian and Swiss populations were very similar. The T allele frequencies were 0.36 and 0.33 in patients from Egypt and Switzerland, respectively. However, among the controls, the frequency was 0.14 in the Egyptians and 0.13 in the Swiss subjects. This study showed a significant association between otoscierosis and the T allele in the Egyptian population [p< 0.0001]. Analysis of the independent Swiss population replicated this association [p= 0.0005]. The study confirms the association of COL1A1 Sp1 binding site polymorphism with the risk of otosclerosis

Genética de populações de Anopheles darlingi e Anopheles marajoara (Diptera: Culicidae), utilizando o gene timeless como marcador molecular / Genetic of populations of Anopheles darlingi e Anopheles marajoara (Diptera: Culicidae), using the gene timeless as molecular marker

Anopheles darlingi e as espécies que compõem o complexo Albitarsis, entre elas Anopheles marajoara e Anopheles albitarsis s.s., são importantes vetores da malária no Brasil. Devido à sua ampla distribuição geográfica e um comportamento contrastante em diferentes regiões, elucidar o real status taxonômico de An. darlingi, como uma única espécie ou um complexo de espécies crípticas, tornou-se um grande alvo de pesquisas. Neste trabalho, foi utilizado como marcador molecular um fragmento do gene timeless, envolvido no controle dos ritmos circadianos, para analisar a diferenciação genética entre populações de An. darlingi coletadas em Macapá (Estado do Amapá) e em Portuchuelo (Estado de Rondônia). Em uma análise temporal e microgeográfica realizada com a população de Portuchuelo, não observamos nenhuma diferenciação significativa entre os indivíduos coletados em diferentes horários. Porém, a diferenciação encontrada entre aqueles coletados no intra e no peridomicílio foi significativa e cerca de metade daquela observada entre Macapá e Portuchuelo. Nós também estudamos o grau de divergência entre An. darlingi e An. marajoara. Os dados mostram que, embora pertencendo ao mesmo subgênero, estas duas espécies são bastante diferenciadas. Foi estimada, também, a divergência entre An. marajoara e uma seqüência de An. albitarsis s.s. Esses resultados indicam que a diferenciação entre essas duas espécies do complexo Albitarsis é muito maior que aquela observada entre as populações de An. darlingi de Macapá e Portuchuelo.

Estudo de marcadores genéticos autossômicos e uniparentais em comunidades indígenas Terena / Study of autosomal and uniparents genetic markers in Amerindian communities Terena

Apesar da grande importância dos nativos americanos na composição étnica e cultural do povo brasileiro, pouco se conhece sobre a enorme diversidade genética das diferentes etnias de ameríndios que habitam o território brasileiro. A maioria dos dados da literatura refere-se a estudos com marcadores protéicos, menos informativos. O presente estudo apresenta resultados de diferentes marcadores genéticos, utilizados principalmente para identificação humana, em amostras coletadas em 3 comunidades indígenas, da etnia Terena, com localização geográfica bem próxima: Água Azul, Buriti e Córrego do Meio. Foram analisados 15 microssatélites autossômcos em 93 amostras de indivíduos não aparentados, 16 microssatélites do cromossomo Y em 34 indivíduos e as duas regiões hipervariáveis (HVI e HVII) do DNA mitocondrial, em 31 indivíduos. Com relação aos dados de microssatélites autossômicos, as 3 populações estudadas apresentaram excesso de heterozigotos em relação ao esperado pela diversidade gênica. A análise de variância molecular (Amova) apresentou nível de significância limítrofe para diferenciação genética entre as 3 populações. O cálculo de mistura racial indicou que as populações estudadas apresentam baixa mistura étnica (64,4por cento de contribuição indígena). Os dados de microssatélites autossômicos são corroborados pelos de microssatélites do cromossomo Y, onde 64por cento dos haplótipos obtidos são relacionados a nativos americanos. A proporção de haplogrupos ameríndios de DNA mitocondrial, como esperado, foi ainda mais alta (90,3por cento). Esses resultados mostram que as populações indígenas estudadas, apesar de geograficamente próximas, apresentam uma considerável distância genética, e ainda que tais populações, apesar de longo histórico de contato com outras etnias formadoras da população brasileira (negros e brancos), mantêm sua identidade genética indígena.