RESUMO
Foi atendida em uma clínica veterinária na cidade de Maceió/AL uma cadela Poodle apresentando extensa área de ferimento cutâneo contaminado em face crânio-lateral do membro torácico direito. Procedeu-se a limpeza da lesão e instituiu-se protocolo de tratamento utilizando-se solução de hipoclorito de sódio 0,5%, através da dispersão para antissepsia e facilitação da retirada de crostas e debris necróticos. O tratamento foi conduzido durante vinte e quatro dias observando-se completa recuperação do animal. Neste trabalho discute-se a utilização do hipoclorito como método alternativo, eficiente, de baixo custo e de fácil aplicação para tratamento de feridas abertas.
RESUMO
O conhecimento dos intervalos de referência para parâmetros clínicos e bioquímicos nas diferentes espécies e a influência da raça e da idade sobre eles é uma ferramenta fundamental para o Médico Veterinário. Neste sentido, o objetivo deste estudo foi descrever os parâmetros clínicos e bioquímicos de jumentos neonatos da raça Pêga. Desta forma, foram avaliados 10 jumentos neonatos ao nascimento (M0), 7 dias de vida (M1), 14 dias (M2), 21 dias (M3), 28 dias (M4) e 35 dias (M5), além da determinação das concentrações de aspartato aminotransferase (AST), creatina quinase (CK), gama glutamiltransferase (GGT) e albumina (ALB). Em relação ao exame clínico, foram observadas diferenças estatísticas nos valores da frequência respiratória (FR, mpm) e temperatura retal (ToC), que sofreram alterações nos neonatos estudados. Dentre as análises bioquímicas, os valores de AST apresentaram significância estatística, com valores superiores aos descritos pela literatura consultada. Embora exista uma grande variação interindividual para alguns parâmetros, este estudo demonstrou que as referências de intervalo devem ser dirigidas não apenas as espécies diferentes, mas também a raças específicas e ao período neonatal, sendo este o primeiro estudo que descreve as características clínicas e bioquímicas de neonatos da raça Pêga.
RESUMO
O conhecimento dos intervalos de referência para parâmetros clínicos e bioquímicos nas diferentes espécies e a influência da raça e da idade sobre eles é uma ferramenta fundamental para o Médico Veterinário. Neste sentido, o objetivo deste estudo foi descrever os parâmetros clínicos e bioquímicos de jumentos neonatos da raça Pêga. Desta forma, foram avaliados 10 jumentos neonatos ao nascimento (M0), 7 dias de vida (M1), 14 dias (M2), 21 dias (M3), 28 dias (M4) e 35 dias (M5), além da determinação das concentrações de aspartato aminotransferase (AST), creatina quinase (CK), gama glutamiltransferase (GGT) e albumina (ALB). Em relação ao exame clínico, foram observadas diferenças estatísticas nos valores da frequência respiratória (FR, mpm) e temperatura retal (ToC), que sofreram alterações nos neonatos estudados. Dentre as análises bioquímicas, os valores de AST apresentaram significância estatística, com valores superiores aos descritos pela literatura consultada. Embora exista uma grande variação interindividual para alguns parâmetros, este estudo demonstrou que as referências de intervalo devem ser dirigidas não apenas as espécies diferentes, mas também a raças específicas e ao período neonatal, sendo este o primeiro estudo que descreve as características clínicas e bioquímicas de neonatos da raça Pêga.(AU)
Knowing the reference ranges for clinical and biochemical parameters in different species and the influence of race and age on them is a fundamental tool for the veterinarian. In this sense, the aim of this study was to describe the clinical and biochemical parameters of newborn Pegasus donkeys. Thus, 10 newborn donkeys at birth (M0), 7 days of life (M1), 14 days (M2), 21 days (M3), 28 days (M4) and 35 days (M5) were evaluated, in addition to the determination of concentrations of aspartate aminotransferase (AST), creatine kinase (CK), gamma glutamyltransferase (GGT) and albumin (ALB). Regarding the clinical examination, statistical differences were observed in the values of respiratory rate (RR, mpm) and rectal temperature (ToC), which changed in the studied neonates. Among the biochemical analyses, the AST values showed statistical significance, with values higher than those described in the consulted literature. Although there is great inter-individual variation for some parameters, this study demonstrated that interval references should be directed not only to different species, but also to specific races and the neonatal period, this being the first study to describe the clinical and biochemical characteristics of newborns of the Pega race.(AU)
Assuntos
Animais , Equidae/fisiologia , Protocolos Clínicos , Fenômenos BioquímicosRESUMO
Foi atendida em uma clínica veterinária na cidade de Maceió/AL uma cadela Poodle apresentando extensa área de ferimento cutâneo contaminado em face crânio-lateral do membro torácico direito. Procedeu-se a limpeza da lesão e instituiu-se protocolo de tratamento utilizando-se solução de hipoclorito de sódio 0,5%, através da dispersão para antissepsia e facilitação da retirada de crostas e debris necróticos. O tratamento foi conduzido durante vinte e quatro dias observando-se completa recuperação do animal. Neste trabalho discute-se a utilização do hipoclorito como método alternativo, eficiente, de baixo custo e de fácil aplicação para tratamento de feridas abertas.(AU)
A female Poodle dog showing an extensive area of a contaminated cutaneous wound on the cranio-lateral surface of the right arm was take care in a veterinary clinic on Maceio city. The injury was washed and then a clinical protocol of treatment was used with the buffering of a 0,5% Sodium Hypochlorite solution to promote antisepsis and improve the removal of necrotical debris and crusts. The treatment was conduced for twenty days and was observed the complete recover of the animal skin at the end of it. On this work the use of Hypochlorite can be considered an alternative treatment method for contaminated cutaneous wound by its efficient action, low costs and easy application.(AU)
Assuntos
Animais , Feminino , Cães , Cães/lesões , Hipoclorito de Sódio/administração & dosagem , Ferimentos Penetrantes/reabilitação , Ferimentos Penetrantes/veterinária , CicatrizaçãoRESUMO
O conhecimento dos intervalos de referência para parâmetros clínicos e bioquímicos nas diferentes espécies e a influência da raça e da idade sobre eles é uma ferramenta fundamental para o Médico Veterinário. Neste sentido, o objetivo deste estudo foi descrever os parâmetros clínicos e bioquímicos de jumentos neonatos da raça Pêga. Desta forma, foram avaliados 10 jumentos neonatos ao nascimento (M0), 7 dias de vida (M1), 14 dias (M2), 21 dias (M3), 28 dias (M4) e 35 dias (M5), além da determinação das concentrações de aspartato aminotransferase (AST), creatina quinase (CK), gama glutamiltransferase (GGT) e albumina (ALB). Em relação ao exame clínico, foram observadas diferenças estatísticas nos valores da frequência respiratória (FR, mpm) e temperatura retal (ToC), que sofreram alterações nos neonatos estudados. Dentre as análises bioquímicas, os valores de AST apresentaram significância estatística, com valores superiores aos descritos pela literatura consultada. Embora exista uma grande variação interindividual para alguns parâmetros, este estudo demonstrou que as referências de intervalo devem ser dirigidas não apenas as espécies diferentes, mas também a raças específicas e ao período neonatal, sendo este o primeiro estudo que descreve as características clínicas e bioquímicas de neonatos da raça Pêga.
Knowing the reference ranges for clinical and biochemical parameters in different species and the influence of race and age on them is a fundamental tool for the veterinarian. In this sense, the aim of this study was to describe the clinical and biochemical parameters of newborn Pegasus donkeys. Thus, 10 newborn donkeys at birth (M0), 7 days of life (M1), 14 days (M2), 21 days (M3), 28 days (M4) and 35 days (M5) were evaluated, in addition to the determination of concentrations of aspartate aminotransferase (AST), creatine kinase (CK), gamma glutamyltransferase (GGT) and albumin (ALB). Regarding the clinical examination, statistical differences were observed in the values of respiratory rate (RR, mpm) and rectal temperature (ToC), which changed in the studied neonates. Among the biochemical analyses, the AST values showed statistical significance, with values higher than those described in the consulted literature. Although there is great inter-individual variation for some parameters, this study demonstrated that interval references should be directed not only to different species, but also to specific races and the neonatal period, this being the first study to describe the clinical and biochemical characteristics of newborns of the Pega race.
Assuntos
Animais , Equidae/fisiologia , Fenômenos Bioquímicos , Protocolos ClínicosRESUMO
Foi atendida em uma clínica veterinária na cidade de Maceió/AL uma cadela Poodle apresentando extensa área de ferimento cutâneo contaminado em face crânio-lateral do membro torácico direito. Procedeu-se a limpeza da lesão e instituiu-se protocolo de tratamento utilizando-se solução de hipoclorito de sódio 0,5%, através da dispersão para antissepsia e facilitação da retirada de crostas e debris necróticos. O tratamento foi conduzido durante vinte e quatro dias observando-se completa recuperação do animal. Neste trabalho discute-se a utilização do hipoclorito como método alternativo, eficiente, de baixo custo e de fácil aplicação para tratamento de feridas abertas.
A female Poodle dog showing an extensive area of a contaminated cutaneous wound on the cranio-lateral surface of the right arm was take care in a veterinary clinic on Maceio city. The injury was washed and then a clinical protocol of treatment was used with the buffering of a 0,5% Sodium Hypochlorite solution to promote antisepsis and improve the removal of necrotical debris and crusts. The treatment was conduced for twenty days and was observed the complete recover of the animal skin at the end of it. On this work the use of Hypochlorite can be considered an alternative treatment method for contaminated cutaneous wound by its efficient action, low costs and easy application.
Assuntos
Feminino , Animais , Cães , Cicatrização , Cães/lesões , Ferimentos Penetrantes/reabilitação , Ferimentos Penetrantes/veterinária , Hipoclorito de Sódio/administração & dosagemRESUMO
The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel-lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations. One had a mutation due to expansion of the CGG repeat beyond normal levels and the other had a deletion in exon 1 of the FMR1 gene, which was confirmed by sequencing. Both probands were over 18 years old, which demonstrates the late diagnosis of the condition in these individuals and reinforces the need to implement ef-fective programs for early diagnosis of FXS in the state of Maranhão. We found that FXS might be transmitted in the families of the two indi-viduals bearing the mutation, and that it is important to understand the mutation dynamics to provide better counseling to the family members of these two individuals.
Assuntos
DNA/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Testes Genéticos , Mutação , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , DNA/isolamento & purificação , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/patologia , Aconselhamento Genético , Humanos , Institucionalização , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
Visceral leishmaniasis (VL) is one of the seven priority endemic diseases in the world. The clinical outcome of many infections is not only dependent on the pathogenic organism, but also on the genetic variability of the host susceptibility to infection. Mannose-binding lectin (MBL) is a protein that plays an important role in the innate immune system. The aim of this study was to compare the serum levels of MBL between healthy controls and carriers of VL. The VL cases were recruited randomly from the main hospitals and referral outpatient clinics for VL in São Luís, and from home visits. Determination of MBL protein levels was performed by enzyme-linked immunosorbent assay. Of the 161 patients with VL and the 161 healthy controls, 60.9 and 67.1% had high levels of MBL, respectively. There was no significant difference in MBL levels between cases and controls. Low socioeconomic status and living conditions are conducive to the occurrence of VL. Owing to the small number of existing studies, it is extremely important to conduct further studies on MBL levels and susceptibility to VL, especially in regions where the disease is endemic, such as Maranhão, Brazil.
Assuntos
Leishmaniose Visceral/sangue , Lectina de Ligação a Manose/sangue , Adolescente , Adulto , Idoso , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
A produção in vitro de embriões (PIVE) bovinos apresenta significativa expressão nacional em níveiscomercial e científico, sendo responsável pela produção de aproximadamente 250 mil embriões ao ano. Obteveseus primeiros produtos em 1977 no Japão e em 1982 nos Estados Unidos, ao passo que o primeiro bezerrobrasileiro foi produzido anos mais tarde, em 1994. A partir daí, como uma técnica consolidada, vemapresentando estudos para o melhoramento de sua metodologia acerca de diversos temas, como maturaçãooócitária, capacitação espermática, aditivos para os meios de cultura, entre outros. Esta revisão teve comoobjetivo elencar os avanços nas metodologias que marcaram a história contribuindo para o aumento da eficiêncianas taxas de bovinos produzidos in vitro no Brasil. Adicionalmente, serão abordados aspectos históricosnecessários para o desenvolvimento da produção in vitro de embriões bovinos no Brasil e aspectos atuais queainda se apresentam como um empecilho na elevação da eficiência dessa biotécnica. Mesmo sendo uma técnicabem estabelecida e amplamente utilizada, ainda é perceptível a necessidade de avanços em determinadas etapas,principalmente em relação à maturação.
The first products resulting from the in vitro production of bovine embryos (IVP) were obtained in 1977in Japan, 1982 in the United States of America and some years later in Brazil (1994). Since these events thetechnique has been seen as successful it is importance to the science and industry. Nowadays the Brazilianproduction of in vitro products is about 250,000 embryos per year. Although widely used, this biotechnologyneeds to be updated constantly to ensure more efficiency in its stages. Thus, the purposes of this review are tolist in chronological order the advances which have marked the history, contributing to increasing the efficiencyof IVP in Brazil and current aspects that still stand as an obstacle to improve this technique.
Assuntos
Feminino , Animais , Bovinos , Bovinos/embriologia , Embrião de Mamíferos , Técnicas In Vitro/métodos , Técnicas In Vitro/veterináriaRESUMO
A produção in vitro de embriões (PIVE) bovinos apresenta significativa expressão nacional em níveiscomercial e científico, sendo responsável pela produção de aproximadamente 250 mil embriões ao ano. Obteveseus primeiros produtos em 1977 no Japão e em 1982 nos Estados Unidos, ao passo que o primeiro bezerrobrasileiro foi produzido anos mais tarde, em 1994. A partir daí, como uma técnica consolidada, vemapresentando estudos para o melhoramento de sua metodologia acerca de diversos temas, como maturaçãooócitária, capacitação espermática, aditivos para os meios de cultura, entre outros. Esta revisão teve comoobjetivo elencar os avanços nas metodologias que marcaram a história contribuindo para o aumento da eficiêncianas taxas de bovinos produzidos in vitro no Brasil. Adicionalmente, serão abordados aspectos históricosnecessários para o desenvolvimento da produção in vitro de embriões bovinos no Brasil e aspectos atuais queainda se apresentam como um empecilho na elevação da eficiência dessa biotécnica. Mesmo sendo uma técnicabem estabelecida e amplamente utilizada, ainda é perceptível a necessidade de avanços em determinadas etapas,principalmente em relação à maturação.(AU)
The first products resulting from the in vitro production of bovine embryos (IVP) were obtained in 1977in Japan, 1982 in the United States of America and some years later in Brazil (1994). Since these events thetechnique has been seen as successful it is importance to the science and industry. Nowadays the Brazilianproduction of in vitro products is about 250,000 embryos per year. Although widely used, this biotechnologyneeds to be updated constantly to ensure more efficiency in its stages. Thus, the purposes of this review are tolist in chronological order the advances which have marked the history, contributing to increasing the efficiencyof IVP in Brazil and current aspects that still stand as an obstacle to improve this technique.(AU)
Assuntos
Animais , Feminino , Bovinos , Bovinos/embriologia , Técnicas In Vitro/métodos , Técnicas In Vitro/veterinária , Embrião de MamíferosRESUMO
MicroRNAS (miRNAs) are a class of endogenously single-stranded non-coding RNA molecules that can negatively modulate the expression of target messenger RNAs by 3' UTR base pairing. During the processing of a miRNA, a network of orchestrated molecular events provides a dynamic manner to posttranscriptionally modulate gene expression. Recent research has demonstrated that although these molecules are small, they are involved in several crucial biological functions, as well as, in a broad spectrum of human diseases. In this review, we highlighted the current knowledge on the miRNA pathway field, focusing on how the disruption of the miRNA-mediated silencing pathways could lead to the pathogenesis of neurological disorders. The potential use of miRNAs as diagnostic/prognostic markers and the possibility of reversing the effects of some miRNA polymorphisms/mutations by promising therapeutics procedures have brought new perspectives into the treatment of human pathologies.
Assuntos
MicroRNAs/genética , Doenças do Sistema Nervoso/genética , Regiões 3' não Traduzidas , Inativação Gênica , Marcadores Genéticos/genética , Humanos , MicroRNAs/metabolismoRESUMO
We determined whether ADRbeta3 polymorphism is associated with obesity-related traits in 140 obese patients. Molecular analysis was performed by PCR and RFLP. Individuals carrying the Arg64 allele had a lower waist-to-hip ratio, higher adiponectin and high-density lipoprotein cholesterol levels, and a tendency towards lower blood pressure. In contrast, Trp64/Trp64 carriers were at greater risk for dysmetabolic phenotypes (odds ratio = 2.88, P = 0.03).
Assuntos
Doenças Cardiovasculares/complicações , Predisposição Genética para Doença , Síndrome Metabólica/complicações , Obesidade/complicações , Polimorfismo de Nucleotídeo Único/genética , Receptores Adrenérgicos beta 3/genética , Adolescente , Adulto , Idoso , Substituição de Aminoácidos/genética , Brasil , Doenças Cardiovasculares/genética , Feminino , Humanos , Modelos Logísticos , Masculino , Síndrome Metabólica/genética , Pessoa de Meia-Idade , Obesidade/genética , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. METHODS: Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. RESULTS: We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S. CONCLUSIONS: The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.
Assuntos
Éxons , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Idoso , Brasil , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Mutação , Análise de Sequência de DNA/métodosRESUMO
Recent evidence shows that almost 92% of the DS children are born from young mothers, suggesting that other risk factors than advanced maternal age must be involved. In this context, some studies demonstrated a possible link between DS and maternal polymorphisms in genes involved in folate metabolism. These polymorphisms, as well as low intake of folate could generate genomic instability, DNA hypomethylation and abnormal segregation, leading to trisomy 21. We compared the frequency of CBS 844ins68, MTR 2756A>G, RFC-1 80G> A and TC 776C>G polymorphisms among 114 case mothers and 110 matched controls, in order to observe whether these variants act as risk factors for DS. The genotype distributions revealed that there were not significant differences between both samples. However, when we proceed the multiplicative interaction analyses between the four polymorphisms described above together with the previously studied MTHFR 677C>T, MTHFR 1298A>C and MTRR 66A>G polymorphisms, our results show that the combined genotype TC 776CC / MTHFR 677TT and TC 776CC / MTR 2756AG were significantly higher in the control sample. Nevertheless, there was no significant association after Bonferroni correction. Our results suggest that maternal folate-related polymorphisms studied here have no influence on trisomy 21 susceptibility in subjects of Brazilian population.
Assuntos
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Cistationina beta-Sintase/genética , Síndrome de Down/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo Genético , Transcobalaminas/genética , Adolescente , Adulto , Brasil/epidemiologia , Criança , DNA/genética , Síndrome de Down/epidemiologia , Síndrome de Down/metabolismo , Feminino , Predisposição Genética para Doença , Humanos , Mães , Fatores de RiscoRESUMO
Polymorphisms in genes encoding folate metabolizing enzymes have been linked to an increased risk of maternal chromosomal nondisjunction in several populations. With the purpose of evaluating this relationship, we compared the frequencies of 677C>T and 1298A>C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and 66A>G in the methionine synthase reductase gene (MTRR) between 103 young mothers of Down syndrome (DS) individuals and 108 control mothers, whose offspring was karyotypically normal, correlating it with an estimative of folate and - related micronutrients levels intake. Maternal and paternal transmission frequencies of MTHFR 677T allele were also examined to access potential parent-of-origin effects. PCR-RFLP for genomic DNA was accomplished and allele/genotype frequencies differences were determined using the x(2) test, whereas pattern of transmission of the MTHFR 677 allele was analyzed by transmission disequilibrium test. None of the polymorphisms seemed to be more frequent in case mothers than in controls, either individually or combined. The estimative of nutritional intake revealed that folate consumption median was inadequate in both groups, whereas methionine and zinc consumption medians were significantly greater in control mothers. It suggests that such interaction between genetic profile and environment could predispose this sub group of women to have a DS child. Additional studies focusing the interaction between nutritional intakes, biochemical data and folate pathway polymorphisms are needed to confirm the present results. The possibility of neutralize the biochemical negative effects of folate-related polymorphisms through oral supplementation could provide new targets for DS prevention.
Assuntos
Síndrome de Down/etiologia , Síndrome de Down/genética , Ácido Fólico/metabolismo , Desnutrição/complicações , Desnutrição/metabolismo , Adolescente , Adulto , Alelos , Estudos de Casos e Controles , Síndrome de Down/metabolismo , Feminino , Ferredoxina-NADP Redutase/genética , Frequência do Gene , Predisposição Genética para Doença , Humanos , Recém-Nascido , Masculino , Desnutrição/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mães , Polimorfismo de Nucleotídeo Único , Gravidez , Fatores de Risco , Adulto JovemRESUMO
Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor beta3 (beta3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial. In the present study, we investigated the relationship of the beta3-AR p.W64R, LEP c.-2548G>A and LEPR p.Q223R gene variants with body mass index (BMI), in Brazilian subjects of different genetic backgrounds and ethnic origins. Two hundred obese patients (60 males, 140 females, BMI > or = 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI < or = 24 kg/m2). Genomic DNA was extracted and amplified by polymerase chain reaction. Polymerase chain reaction products were digested with specific restriction enzymes and separated by electrophoresis. There was no significant difference in the genotype frequency of the beta3-AR p.W64R and the LEP c.-2548G>A polymorphisms, between lean and obese subjects. However, the genotype and allele frequencies of the LEPR p.Q223R variant were significantly different between the normal weight and obese groups. Haplotype analysis has shown an association between the G/G allelic combination of c.-2548G>A LEP and c.668A>G LEPR, in obese subjects. Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p.Q223R variant being related to BMI increase. The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.
Assuntos
Variação Genética , Leptina/genética , Obesidade/genética , Receptores Adrenérgicos beta 3/genética , Receptores para Leptina/genética , Adolescente , Adulto , Idoso , Alelos , Substituição de Aminoácidos , Índice de Massa Corporal , Brasil , Estudos de Casos e Controles , DNA/genética , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/patologia , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Significant evidences have brought new insights on the mechanisms by which epigenetic machinery proteins regulate gene expression, leading to a redefinition of chromatin regulation in terms of modification of core histones, DNA methylation, RNA-mediated silencing pathways, action of methylation-dependent sensitive insulators and Polycomb/Trithorax group proteins. Consistent with these fundamental aspects, an increasing number of human pathologies have been found to be associated with aberrant epigenetics regulation, including cancer, mental retardation, neurodegenerative symptoms, imprinting disorders, syndromes involving chromosomal instabilities and a great number of human life-threatening diseases. The possibility of reversing epigenetic marks, in contrast to genetic code, may provide new pharmacological targets for emerging therapeutic intervention.
Assuntos
Epigênese Genética , Doenças Genéticas Inatas , Montagem e Desmontagem da Cromatina , Metilação de DNA , Histonas/metabolismo , Humanos , Neoplasias/genética , Doenças do Sistema Nervoso/genética , Proteínas do Grupo Polycomb , Proteínas Repressoras/genéticaRESUMO
Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor ¦Â3 (¦Â3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial. In the present study, we investigated the relationship of the ¦Â3-AR p.W64R, LEP c.-2548G>A and LEPR p.Q223R gene variants with body mass index (BMI), in Brazilian subjects of different genetic backgrounds and ethnic origins. Two hundred obese patients (60 males, 140 females, BMI ¡Ý 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI ¡Ü 24 kg/m2). Genomic DNA was extracted and amplified by polymerase chain reaction. Polymerase chain reaction products were digested with specific restriction enzymes and separated by electrophoresis. There was no significant difference in the genotype frequency of the ¦Â3-AR p.W64R and the LEP c.-2548G>A polymorphisms, between lean and obese subjects. However, the genotype and allele frequencies of the LEPR p.Q223R variant were significantly different between the normal weight and obese groups. Haplotype analysis has shown an association between the G/G allelic combination of c.-2548G>A LEP and c.668A>G LEPR, in obese subjects. Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p.Q223R variant being related to BMI increase. The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Variação Genética , Obesidade/genética , /genética , Alelos , Índice de Massa Corporal , Brasil , Estudos de Casos e Controles , DNA , Frequência do Gene , Obesidade/patologia , Polimorfismo de Nucleotídeo Único , Substituição de Aminoácidos/genéticaRESUMO
Pb concentration and Pb isotopic composition are known to represent powerful tools to investigate the history of Pb pollution in water and sediments. In this paper, we present and discuss the results of a detailed study of sediments deposited in the Paranoá Lake, a 44-year-old artificial reservoir in Brasília, central Brazil. Pb concentration and isotopic composition of the sediments were obtained by ID-TIMS, on three different sample fractions: leachate, residue, and bulk sample. The leachate phase has proven to be most efficient to distinguish between anthropogenic and natural Pb inputs. In the Paranoá lake, important sources of contamination were recognized, producing higher Pb concentrations (max. 37.68 ppm) and significant variations in Pb isotopic composition, relative to the regional geogenic background. Contamination of the sediments due to anthropogenic activity produced less radiogenic Pb isotopic compositions (206Pb/207Pb=1.15-1.17), compared with the regional natural composition (206Pb/207Pb=1.19-1.25). 210Pb analyses along one bore hole which sampled the entire sediment section indicated a sedimentation rate of 8.2+/-1.8 mm/year. The combined use of the 210Pb ages and Pb isotopic compositions of these samples revealed three distinct periods in the lake history: (1) the period of the time formation of the lake in 1959 until ca. 1970 was characterized by the deposition of sediments displaying more radiogenic Pb isotopic signature, (2) the time interval from the start of the process of eutrophication at 1970, until 1995, was characterized by the deposition of sediments having less radiogenic average compositions, and (3) from 1995 until the present represents a period of recovery of water quality, after two sewage treatment stations started to operate.
Assuntos
Água Doce/análise , Sedimentos Geológicos/química , Chumbo/análise , Poluentes Químicos da Água/análise , Brasil , Monitoramento Ambiental , Espectrometria de Massas , Difração de Raios XRESUMO
Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism of SCA1 and SCA2 loci in a sample of 200 pairs of chromosomes in a population in Rio de Janeiro and found 23 different alleles at the SCA1 locus, varying from 10 to 39 CAG repeats (mean 27.7 +/- 3.3, mode 28) and 10 different alleles ranging from 19 to 29 CAG (mean 22.1 +/- 1.0, mode 22) at the SCA2 locus. The level of heterozygosis was 53 (SCA1) and 8 (SCA2)