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1.
Forensic Sci Int Genet ; 67: 102934, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37713981

RESUMO

The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process data of ancestry informative markers (AIMs), which are selected based on large allele frequency differences between the populations of interest. However, population assignments of individuals with an admixed genetic background are challenging. Admixed individuals are genetic mosaics of chromosomal segments from the parental populations, which may lead to ambiguous or no population assignment. This is problematic since admixture events are a substantial part of human history. In this study, we present challenges of interpreting the evidential weight of population assignments. We used Genogeographer for likelihood ratio (LR) calculations and Brazilians as examples of admixed individuals. Brazilians are a very heterogenous population representing a three-way admixture between Native Americans, Europeans, and Africans. Ancestry informative markers were typed in a total of 589 individuals from Brazil using the Precision ID Ancestry Panel. The Brazilians were assigned to six metapopulations (East Asia, Europe, Middle East, North Africa, South-Central Asia, Sub-Saharan Africa) defined in the Genogeographer software and LRs were calculated if the AIM profile was not an outlier in all metapopulations and simulated two-way (1:1) admixtures of the six metapopulations. Population assignments failed for 55% of the samples. These samples had significantly higher genetic contributions from East Asia, South-Central Asia and Sub-Saharan Africa, and significantly lower genetic contributions from Europe. Most of the individuals with population assignments were assigned to the metapopulations of Middle East (58%) or North Africa (36%), followed by Europe (4%), South-Central Asia (1%), and Sub-Saharan Africa (1%). For 8% of the samples, population assignments were only possible when assignments to simulated two-way (1:1) admixtures of the six metapopulations were considered. Most of these individuals were assigned to two-way admixtures of North Africa, South-Central Asia, or Sub-Saharan Africa. Relatively low median likelihood ratios (LRs<1000) were observed when comparing population likelihoods for Europe, Middle East, North Africa, South-Central Asia, or simulated 1:1 admixtures of these metapopulations. Comparisons including East Asian or Sub-Saharan African populations resulted in larger median LRs (LR>1010). The results suggested that the Precision ID Ancestry Panel provided too little information and that additional markers specifically selected for sub-continental differentiation may be required for accurate population assignment of admixed individuals. Furthermore, a Genogeographer database with additional populations including admixed populations would be advantageous for interpretation of admixed AIM profiles. It would likely increase the number of population assignments and illustrate alternatives to the most likely population, which would be valuable information for the case officer when writing the case report.


Assuntos
Genética Populacional , Grupos Populacionais , Humanos , Brasil , Frequência do Gene , Polimorfismo de Nucleotídeo Único , Grupos Populacionais/classificação
2.
Int J Legal Med ; 134(5): 1569-1579, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32385594

RESUMO

Although many genes have been shown to be associated with human pigmentary traits and forensic prediction assays exist (e.g. HIrisPlex-S), the genetic knowledge about skin colour remains incomplete. The highly admixed Brazilian population is an interesting study population for investigation of the complex genotype-phenotype architecture of human skin colour because of its large variation. Here, we compared variants in 22 pigmentary genes with quantitative skin pigmentation levels on the buttock, arm, and forehead areas of 266 genetically admixed Brazilian individuals. The genetic ancestry of each individual was estimated by typing 46 AIM-InDels. The mean proportion of genetic ancestry was 68.8% European, 20.8% Sub-Saharan African, and 10.4% Native American. A high correlation (adjusted R2 = 0.65, p < 0.05) was observed between nine SNPs and quantitative skin pigmentation using multiple linear regression analysis. The correlations were notably smaller between skin pigmentation and biogeographic ancestry (adjusted R2 = 0.45, p < 0.05), or markers in the leading forensic skin colour prediction system, the HIrisPlex-S (adjusted R2 = 0.54, p < 0.05). Four of the nine SNPs, OCA2 rs1448484 (rank 2), APBA2 rs4424881 (rank 4), MFSD12 rs10424065 (rank 8), and TYRP1 1408799 (rank 9) were not investigated as part of the HIrisPlex-S selection process, and therefore not included in the HIrisPlex-S model. Our results indicate that these SNPs account for a substantial part of the skin colour variation in individuals of admixed ancestry. Hence, we suggest that these SNPs are considered when developing future skin colour prediction models.


Assuntos
Variação Genética , Polimorfismo de Nucleotídeo Único , Pigmentação da Pele/genética , População Negra/genética , Brasil/etnologia , DNA/genética , Marcadores Genéticos , Técnicas de Genotipagem/instrumentação , Humanos , Povos Indígenas/genética , População Branca/genética
3.
Forensic Sci Int Genet ; 46: 102258, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32066109

RESUMO

The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in the Investigator Argus X-12 QS kit Qiagen. A total of 16 laboratories gathered data from 1,612 father/mother/daughter trios, which were used to estimate both maternal and paternal mutation rates, when pooled together with other already published data. Data on fathers and mothers' age at the time of birth of the daughter were also available for ∼93 % of the cases. Population analyses were computed considering the genetic information of a subset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of five countries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the population samples from the same country did not reveal signs of significant stratification, although results from Hardy-Weinberg and linkage disequilibrium tests indicated the need of larger studies for Ecuador and Brazilian populations. The high genetic diversity of the markers resulted in a large number of haplotype combinations, showing the need of huge databases for reliable estimates of their frequencies. It should also be noted the high number of new alleles found, many of them not included in the allelic ladders provided with the kit, as very diverse populations were analyzed. The overall estimates for locus specific average mutation rates varied between 7.5E-04 (for DXS7423) and 1.1E-02 (for DXS10135), the latter being a troublesome figure for kinship analyses. Most of the found mutations (∼92 %) are compatible with the gain or loss of a single repeat. Paternal mutation rates showed to be 5.2 times higher than maternal ones. We also found that older fathers were more prone to transmit mutated alleles, having this trend not been observed in the case of the mothers.


Assuntos
Cromossomos Humanos X , Genética Populacional , Repetições de Microssatélites , Mutação , Adulto , Alelos , Feminino , Frequência do Gene , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Idade Materna , Pessoa de Meia-Idade , Taxa de Mutação , Idade Paterna , Portugal , América do Sul , Espanha
4.
Nursing (Ed. bras., Impr.) ; 21(247): 2465-2470, dez.2018.
Artigo em Português | BDENF - Enfermagem, LILACS | ID: biblio-970322

RESUMO

Objetivo: verificar as principais causas jurídicas e médicas de mortalidade em idosos em uma unidade médico-legal do estado de São Paulo, além dos principais locais de ocorrência, do óbito e características da população. Método: Estudo quantitativo, retrospectivo e de análise documental. Os dados foram colhidos de laudos necroscópicos de indivíduos com sessenta anos e mais nos anos de 2010 a 2015. Resultados: As principais causas jurídicas de óbito foram acidentes e mortes naturais, e as causas médicas mais comuns, quedas e acidentes de trânsito. A lesão fatal mais frequente foi traumatismo cranioencefálico, ocupando as causas naturais o terceiro lugar. A residência do idoso foi cenário importante das ocorrências. As características predominantes foram sexo masculino, idade entre 60 e 69 anos, cor branca e estado civil casado. Conclusão: As informações obtidas são de grande valor ao planejamento de ações em segurança pública e saúde dirigidas especialmente aos idosos, contribuindo para o ensino em saúde.


Objective: to verify the main judicial and medical causes of mortality in the elderly in a medical-legal unit in the state of São Paulo, the main places of occurrence, death and characteristics of the population. Method: Quantitative study, retrospective, and analysis of documents. The data was collected from necroscopic reports of individuals aged sixty years old and/or older from 2010 to 2015. Results: The main legal causes of death were accidents and natural deaths, and the most common medical causes, falls and traffic accidents. The most frequent fatal injury was cranioencephalic trauma, being in the third place among the natural causes. The house of the elderly was an important scenario of occurrences. The predominant characteristics were male, age between 60 and 69 years old, white and married. Conclusion: The information obtained is of great value in the planning of actions in safety and health public areas directed especially to the elderly, contributing to health education.


Objetivo: verificar las principales causas jurídicas y médicas de mortalidad en ancianos en una unidad médico-legal del estado de São Paulo, además de los principales lugares de acontecimiento, del óbito y características de la población. Método: Estudio cuantitativo, retrospectivo, de análisis documental. Los datos fueron recolectados de laudos necroscópicos de individuos con sesenta años y más en los años de 2010 a 2015. Resultados: Las principales causas jurídicas de defunción fueron accidentes y muertes naturales, y las causas médicas más comunes, caídas y accidentes de tránsito. La lesión fatal más frecuente fue traumatismo craneoencefálico, ocupando en las causas naturales el tercer lugar. La residencia del anciano fue escenario importante de las ocurrencias. Las características predominantes fueron sexo masculino, edad entre 60 y 69 años, color blanco y estado civil casado. Conclusión: Las informaciones obtenidas son de gran valor al planeamiento de acciones en seguridad pública y salud dirigidas especialmente a los ancianos, contribuyendo a la enseñanza en salud.


Assuntos
Humanos , Idoso , Autopsia , Fatores de Risco , Mortalidade , Causas Externas , Saúde do Idoso
5.
Movimento (Porto Alegre) ; 24(3): 859-874, jul.-set. 2018. ILUS
Artigo em Português | LILACS | ID: biblio-968255

RESUMO

Este estudo teve como objetivo identificar os jogos realizados e preferidos nos recreios das escolas do 1º ciclo, fazendo a diferenciação entre género e ano de escolaridade. Foi aplicado um questionário em duas escolas do 1º ciclo do ensino básico do norte de Portugal. A amostra foi constituída por 317 alunos dos 4 anos de escolaridade, dos quais 167 são rapazes e 150 raparigas. Verificamos que os jogos de "correr" e "caçadinhas" são os que se realizam com mais frequência, mas os rapazes também gostam muito de "futebol" e as raparigas de "conversar". O estudo confirma a pouca diversificação nos jogos realizados pelos alunos e, de acordo com os resultados, é necessário o enriquecimento das atividades lúdicas desenvolvidas pelas crianças utilizando novas intervenções lúdico-pedagógicas ou novos materiais no espaço de recreio


This study sought to identify the games played and preferred by children during school recess in the so-called first cycle, breaking that information down by gender and school year. A questionnaire was applied in two basic education schools in northern Portugal. The sample included 317 students from the four years in that stage ­ 167 boys and 150 girls. It found that "running" and "chasing" are the most frequent, even though boys prefer football while girls prefer talking. The study confirms low diversification in the games played by children and, according to its findings, children's playful activities must be enriched by using new playful-pedagogic interventions or new materials during recess


Este estudio tuvo como objetivo identificar los juegos realizados y preferidos por los niños en los recreos de las escuelas de primer ciclo, estableciendo una diferenciación entre el género y el año de escolaridad. Se aplicó un cuestionario en dos escuelas de enseñanza básica en Braga, norte de Portugal. La muestra estuvo formada por 317 alumnos de los cuatro años de escolaridad que dura la etapa, de los cuales 167 son niños y 150 son niñas. Se pudo comprobar que los juegos de "correr" y de "pillar" son los que se realizan con más frecuencia, aunque a los niños les gusta también mucho el fútbol y, a las niñas, conversar unas con otras. El estudio confirma la poca diversificación de los juegos realizados por el alumnado, haciéndose necesario un enriquecimiento de las actividades lúdicas desarrolladas por los niños, utilizando nuevas intervenciones lúdicopedagógicas o nuevos materiales para emplear en el espacio de recreo


Assuntos
Humanos , Criança , Jogos e Brinquedos , Recreação , Ensino Fundamental e Médio
6.
PeerJ ; 6: e4813, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29868262

RESUMO

BACKGROUND: Anuran vocalizations, such as advertisement and release calls, are informative for taxonomy because species recognition can be based on those signals. Thus, a proper acoustic description of the calls may support taxonomic decisions and may contribute to knowledge about amphibian phylogeny. METHODS: Here we present a perspective on advertisement call descriptions of the frog subfamily Lophyohylinae, through a literature review and a spatial analysis presenting bioacoustic coldspots (sites with high diversity of species lacking advertisement call descriptions) for this taxonomic group. Additionally, we describe the advertisement and release calls of the still poorly known treefrog, Itapotihyla langsdorffii. We analyzed recordings of six males using the software Raven Pro 1.4 and calculated the coefficient of variation for classifying static and dynamic acoustic properties. RESULTS AND DISCUSSION: We found that more than half of the species within the subfamily do not have their vocalizations described yet. Most of these species are distributed in the western and northern Amazon, where recording sampling effort should be strengthened in order to fill these gaps. The advertisement call of I. langsdorffii is composed of 3-18 short unpulsed notes (mean of 13 ms long), presents harmonic structure, and has a peak dominant frequency of about 1.4 kHz. This call usually presents amplitude modulation, with decreasing intensity along the sequence of notes. The release call is a simple unpulsed note with an average duration of 9 ms, and peak dominant frequency around 1.8 kHz. Temporal properties presented higher variations than spectral properties at both intra- and inter-individual levels. However, only peak dominant frequency was static at intra-individual level. High variability in temporal properties and lower variations related to spectral ones is usual for anurans; The first set of variables is determined by social environment or temperature, while the second is usually related to species-recognition process. Here we review and expand the acoustic knowledge of the subfamily Lophyohylinae, highlighting areas and species for future research.

7.
PLoS One ; 12(9): e0184703, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28938024

RESUMO

Introduced species have the potential to become invasive and jeopardize entire ecosystems. The success of species establishing viable populations outside their original extent depends primarily on favorable climatic conditions in the invasive ranges. Species distribution modeling (SDM) can thus be used to estimate potential habitat suitability for populations of invasive species. Here we review the status of six amphibian species with invasive populations in Brazil (four domestic species and two imported species). We (i) modeled the current habitat suitability and future potential distribution of these six focal species, (ii) reported on the disease status of Eleutherodactylus johnstonei and Phyllodytes luteolus, and (iii) quantified the acoustic overlap of P. luteolus and Leptodactylus labyrinthicus with three co-occurring native species. Our models indicated that all six invasive species could potentially expand their ranges in Brazil within the next few decades. In addition, our SDMs predicted important expansions in available habitat for 2 out of 6 invasive species under future (2100) climatic conditions. We detected high acoustic niche overlap between invasive and native amphibian species, underscoring that acoustic interference might reduce mating success in local frogs. Despite the American bullfrog Lithobates catesbeianus being recognized as a potential reservoir for the frog-killing fungus Batrachochytrium dendrobatidis (Bd) in Brazil, we did not detect Bd in the recently introduced population of E. johnstonei and P. luteolus in the State of São Paulo. We emphasize that the number of invasive amphibian species in Brazil is increasing exponentially, highlighting the urgent need to monitor and control these populations and decrease potential impacts on the locally biodiverse wildlife.


Assuntos
Anuros , Espécies Introduzidas , Comunicação Animal , Distribuição Animal , Animais , Anuros/microbiologia , Brasil , Ecossistema , Modelos Teóricos , Micoses/veterinária , Comportamento Sexual Animal , Espectrografia do Som
8.
Forensic Sci Int Genet ; 31: 29-33, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28826061

RESUMO

Ancestry inference is traditionally done using autosomal SNPs that present great allele frequency differences among populations from different geographic regions. These ancestry informative markers (AIMs) are useful for determining the most likely biogeographic ancestry or population of origin of an individual. Due to the growing interest in AIMs and their applicability in different fields, commercial companies have started to develop AIM multiplexes targeted for Massive Parallel Sequencing platforms. This project focused on the study of three main ethnic groups from Ecuador (Kichwa, Mestizo, and Afro-Ecuadorian) using the Precision ID Ancestry panel (Thermo Fisher Scientific). In total, 162 Ecuadorian individuals were investigated. The Afro-Ecuadorian and Mestizo showed higher average genetic diversities compared to the Kichwa. These results are consistent with the highly admixed nature of the first two groups. The Kichwa showed the highest proportion of Native Amerindian (NAM) ancestry relative to the other two groups. The Mestizo had an admixed ancestry of NAM and European with a larger European component, whereas the Afro-Ecuadorian were highly admixed presenting proportions of African, Native Amerindian, and European ancestries. The comparison of our results with previous studies based on uniparental markers (i.e. Y chromosome and mtDNA) highlighted the sex-biased admixture process in the Ecuadorian Mestizo. Overall, the data generated in this work represent one important step to assess the application of ancestry inference in admixed populations in a forensic context.


Assuntos
Etnicidade/genética , Genética Populacional , Impressões Digitais de DNA , Equador , Frequência do Gene , Marcadores Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Análise de Componente Principal , Análise de Sequência de DNA
9.
Artigo em Português | LILACS, BBO - Odontologia | ID: lil-676117

RESUMO

Introdução: Este estudo foi realizado na Universidade Severino Sombra, onde se avaliou o pH externo radicular do hidróxido de cálcio associado a diferentes fármacos. Métodos: Foram utilizados 20 dentes humanos divididos em dois grupos de 10 dentes. Grupo I - associação do hidróxido de cálcio com trietanolamina; Grupo II ? hidróxido de cálcio associado a anestésico. Os grupos foram preparados e preenchidos com as pastas. Foram imersos em água destilada e o pH medido nos tempos de 0, 24, 48, 72 horas e 7, 10, 15 e 30 dias. Resultados: Os dados obtidos foram analisados estatisticamente e o resultado mostrou diferenças significativas; observou-se que em todos os tempos houve aumento do pH e que o pH mais elevado ocorreu no Grupo I. Conclusão: Concluiu-se que o hidróxido de cálcio associado à trietanolamina apresentou um pH mais elevado quando comparado ao anestésico


Introduction: This study was conducted at the Severino Sombra University, evaluating the extraradicular pH of calcium hydroxide in association with various drugs. Methods: Using twenty human teeth divided into two groups of ten teeth each. Group I - association of calcium hydroxide with triethanolamine; Group II ? calcium hydroxide associated with anesthetic. The Groups were prepared and filled with the pastes, and were then immersed in distilled water, measuring the pH at intervals of 0, 24, 48, 72 hours and 7, 10, 15 and 30 days. Results: The resulting data were analyzed statistically and the findings presented significant differences, with an increase in the pH at all intervals, and the highest pH noted in Group I. Conclusion: This led to the conclusion that calcium hydroxide associated with triethanolamine presented a higher pH compared to the anesthetic


Assuntos
Hidróxido de Cálcio , Endodontia , Anestésicos Locais
10.
Periodontia ; 23(3): 15-23, 2013. graf
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-853516

RESUMO

As doenças periodontais (DP) são infecções que acometem os tecidos que circundam e suportam os dentes, causadas por microrganismos presentes no biofilme dental. O envolvimento dos profissionais da Odontologia com a prevenção e a educação continuada objetiva proporcionar uma conscientização maior dos pacientes para evitar o início da gengivite e sua conseqüente evolução para periodontite. Este trabalho teve o propósito de verificar os conhecimentos dos cirurgiões dentistas da rede pública e particular do município de Vassouras/RJ com relação ao diagnóstico, prevenção e tratamento da doença periodontal. Alunos do Curso de Odontologia da Universidade Severino Sombra (USS), sob a orientação do professor pesquisador, entrevistaram os cirurgiões-dentistas por meio de um questionário, com perguntas pertinentes ao tema abordado, entre março e outubro de 2012. Foram respondidos e entregues 14 questionários de dentistas da rede pública (postos de saúde da família- PSF) e 26 questionários de dentistas particulares da cidade, totalizando 40 participantes, o que corresponde a mais de 50% dos dentistas da cidade inscritos no CRO no momento da pesquisa. Pelas respostas obtidas, pôde ser observado que a maioria dos dentistas trabalha na prevenção das doenças periodontais. Entretanto, poucos têm como rotina o uso da sonda e da ficha periodontal no exame clínico de seus pacientes, o que pode estar relacionado à dificuldade existente em diagnosticar mais precisamente as doenças periodontais. Diante disto, conclui-se que o exame clínico periodontal ainda não se faz presente na prática dos dentistas entrevistados, o que impossibilita desta forma diagnósticos precoces das doenças periodontais


Periodontal diseases (PD) are infections that affect the tissues that surround and support the teeth, caused by microorganisms present in the biofilm. The involvement of dental professionals with continuing education and prevention aims to provide a greater awareness of patients to avoid the onset of gingivitis and its eventual progression to periodontitis. This study aimed to verify the knowledge of dentists in private and public in the city of Vassouras / RJ regarding the diagnosis, prevention and treatment of periodontal disease. Students of Dentistry, University Severino Sombra (USS) under the guidance of Professor Researcher, interviewed dentists through a questionnaire with questions relevant to the topic discussed, the period from March to October 2012. Were completed and delivered 14 questionnaires of dentists in public (health family-PSF) and 26 questionnaires of private dentists in the city, totaling 40 participants, representing more than 50% of dentists city registered at the CRO at the time of the survey. The responses obtained, it could be observed that the majority of dentists working in the prevention of periodontal diseases. However, few have the routine use of the probe and plug in periodontal clinical examination of their patients, which may be related to the existing difficulty in diagnosing periodontal diseases more accurately. Given this, it is concluded that the clinical examination is not present yet in practice by dentists, which makes this so early diagnosis of periodontal diseases


Assuntos
Humanos , Biofilmes , Diagnóstico , Doenças Periodontais , Terapêutica
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