Voleibol infanto-juvenil brasileiro: Somatotipia, qualidades físicas e marcadores genéticos dos atletas em diferentes níveis de qualificação esportiva

The elaboration of profiles with characteristics that can be parameters in the different categories of sports modalities and the investment in scientific studies have revealed a significant importance in the development of new generations of athletes. Based in the exposed, the purpose of this study was to identify and compare the somatotype characteristics, physical qualities and genetic markers of Brazilian male volleyball players in the 14-17 category playing at different levels (international, national and regional). We used a scale, stadiometer, pachymeter, and adipometer to evaluate somatotype, attack and block reach test, medicine ball toss, 30-meter agility test , the AAHPER -30 test to evaluate basic physical qualities and the dermatoglyphic method to identify genetic markers. The results show the superiority of the national team over the other squads in the somatotype component (ectomorphy), and in the level of basic physical qualities. We found no significant difference in genetic markers among the teams studied. We conclude that Brazilian volleyball players at different performance levels have characteristics peculiar to the sport, with height and physical qualities being significantly different among these teams. The results confirm de necessity of knowing the athletes specific characteristics when dealing with high performance teams using nutrition, medicine, physiology and genetics specific knowledges to achieve a better sportive development

Marcadores genéticos, antropometria e qualidades físicas básicas nos estágios maturacionais de nadadores paraibanos

The aim of this research was to analyse genetic markers, anthropometry and basic physical qualities in the differret stages of sexual maturation in swimmers in Paraíba. It is characterised as a descriptive cross sectional study. The sample was composed of 119 swimmers (males) that were divided among the stages of sexual maturation, from 7 to 17,9 years of age. They were associated to a local federation, the Confederação Brasileira de Desportes Aquáticos. The tests used were: genetic markers dermatoglyphics; Anthropometry body mass, stature, arm span, fat percentage and somatotype; physical qualities speed tests (25 meters crawl), strength (vertical jump) to inferior limbs, verarm throwing arremesso of a 2kg medicineball to superior limbs and abdominal), resistence (12 minutes to swimming), agility (he multistage 20-meter shuttle run test), flexibility (sit and reach test ) and coodination (stroke index); power of swimming (mean velocity in 25 meters mutiplied by body mass) and the self assessment of the sexual maturation supervised by a pediatric specialist. In the analyses we used the test normality of Shapiro-Wilk, then, we used ANOVA- one way followed by Post-Hoc test of Scheffé. The data showed in dermatogliphics a genetic tendence to velocity (L>W) with a predominance of the meso-ectomorphic somatotype profile; in relation to the physical qualities there was an evolution of the results in every stage due to the antropometric variables, except in the coordination tests. There were no significative differences between the stages. We conclude that swimming in Paraíba is composed of a signicative number of velocists with a mesomorph somatotype profile and low fat percentage, and that made it posssible to us to recomend that the trainings must be individual and according to personal characteristics of each athlete, and that the used variables must be specific for every region of the country. This dissertation presents a relation of multidiciplinar interface and its content has an application in Physical Education and Medicine

Marcadores genéticos associados com a resposta inflamatória na meningite bacteriana

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fatores genéticos e étnicos relacionados à evolução da infecção por Leishmania infantum

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Genes candidatos de suscetibilidade a pré-eclampsia: estudo de associação

Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology

Genes candidatos de suscetibilidade a pré-eclampsia: estudo de associação

Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology

Determinantes genéticos da hanseníase em uma população do Rio Grande do Norte

Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

Análise da contribuição de fatores genéticos e ambientais na manutenção da hanseniase nos estados do Rio Grande do Norte e Pará

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Caracterização genética de vacas leiteiras por meio de marcadores moleculares e suas implicações na composição e qualidade do leite

The objective of this study was to identify DNA polymorphisms at the genes leptin, β-lactoglobulin and pituitary-specific transcription factor in three genetic groups of Holstein x Guzerat dairy cows and investigate the relationship between their genotypes and the composition and quality of milk of dairy cows. Samples were collected in August 2009, being 113 blood samples from lactating crossbred cows and 58 milk samples. For analysis of DNA polymorphisms blood samples were collected, analyzed later in the Genetic Laboratory affiliated to the Zootechny Institute of São Paulo and individual milk samples were collected according to standards established by the laboratory of Management Program of Northeast Dairy Herds (PROGEN), at Federal Rural University of Pernambuco (UFRPE) for analysis of milk composition and quality. The characterization of genotypes was performed by PCR-RFLP, for which were designed specific primers for each studied gene and restriction enzymes Kpn2I, HaeIII and HinfI that cut the DNA of the following genes: leptin, β-lactoglobulin and a PIT, respectively. The leptin estimate genotypic frequence were CC 0.112, TT 0.225 and CT 0.661, for β-lactoglobulin were AA 0.136, AB 0.323 and BB 0.539, and for PIT were ++ 0.655, -- 0.311 and +- 0.032. The results show that the population is in Hardy-Weinberg disequilibrium for leptin, β-lactoglobulin and a PIT due to excess of heterozygotes in the population, however, as these genes are associated with the milk production it is considered that the animals have genetic potential for milk production in the Brazilian semi-arid conditions. Through the characterization of the studied herd there were not found implications of the polymorphism of leptin, β-lactoglobulin and PIT in the composition and quality of milk from cows in the different genetic groups 1/2, 3/4 and 7/8 Holstein x Guzerat. Key words: β-lactoglobulin, crossbred cows, leptin, PCR-RFLP, PIT1, semi-arid.

Determinantes genéticos e ambientais das doenças hipertensivas da gravidez

The development of complex diseases such as preeclampsia are determined by both environmental and genetic factors, but there is also interaction among these factors. Preeclampsia is a pregnancy-specific disorder characterized by de-novo hypertension and proteinuria after 20th week of gestation. There is a broad spectrum of clinical presentations related to hypertensive disorders of pregnancy (HDP) that can range from mild preeclampsia to eclampsia (seizures) or HELLP syndrome (Hemolysis, Elevation of Liver enzymes, Low Platelets). Those clinical outcomes might be linked to different pathological mechanisms. Our work aims to identify factors (i.e. genes and environmental) associated with the HDP’s clinical spectrum. Using a case-control approach, we selected a total of 1498 pregnant women for epidemiological and genetic studies, encompassing 755 normotensive (control); 518 preeclampsia; 84 eclampsia; and 141 HELLP. Women were genotyped for 18 SNPs across 5 candidate genes (FLT1, ACVR2A, ERAP1, ERAP2 and LNPEP). For the environmental factors, we found maternal age, parity status and pre-gestational body mass index as important risk factors associated with disease. Genes were associated in a phenotype-specific manner: ACVR2A with early preeclampsia (rs1424954, p=0.002); FLT1 with HELLP syndrome (rs9513095, p=0.003); and ERAP1 with eclampsia (rs30187, p=0.03). Our results suggest that different genetic mechanisms along with specific environmental factors might determine the clinical spectrum of HDP. In addition, phenotype refinement seems to be an essential step in the search for complex disease genes

Determinantes genéticos da hanseníase em uma população do Rio Grande do Norte

Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

Estrutura genética populacional de Lutjanus analis cioba e Lutjanus jocu dentão (Lutjanidae) ao longo do litoral brasileiro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Marcadores de risco cardiovasculares bioquímicos e antropométricos em idosos hipertensos e aparentemente saudaveis

Idosos apresentam prevalência aumentada de Hipertensão Arterial Sistêmica - HAS além de multiplicidade de fatores de risco cardiovasculares adicionais relacionados a maus hábitos de vida. Este é um estudo transversal que teve como objetivos comparar e correlacionar marcadores bioquímicos e antropométricos e hábitos de vida indicadores de risco cardiovascular em idosos hipertensos e predominantemente saudáveis, sedentários e praticantes de atividade física. A amostra foi composta por 322 idosos, e distribuída em 2 grupos: G1: hipertensos e G2: predominatemente saudáveis. A coleta de dados constou de anamnese e avaliações bioquímica (perfil lipídico e Proteína C-Reativa - PCR) e antropométrica (Índice de Massa Corpórea - IMC, Circunferência da Cintura - CC, Circunferência abdominal - CA e Relação Cintura- Quadril - RCQ). Na análise dos dados utilizou-se estatística descritiva, Teste t de Student, análise de variância (ANOVA One-Way) e correlação de Pearson. Os resultados mostram que no G1: 100% eram hipertensos, sendo que 31,55% eram diabéticos e hipertensos e 0% era exclusivamente diabético, no G2: 28,86% eram hipertensos, sendo que 13,40% eram diabéticos e hipertensos, 5,15% eram exclusivamente diabéticos e 65,99% não apresentam qualquer processo patológico ativo. Com relação aos hábitos e estilo de vida, no G1: 58,22% eram sedentários; 2,6% fumantes e 1,7% etilistas. No G2: 5,15% eram sedentários; 7,21% fumantes e 8,24% etilistas. Com relação ao estado nutricional, verificou-se que no G1: 10,52% dos homens apresentaram Sobrepeso - SP e 14,03% Obesidade - OB, já entre as mulheres, 25,59% apresentaram SP e 20,23% OB. No G2: 6,06% dos homens apresentaram SP e 9,09% OB, e entre as mulheres, 15,87% apresentaram SP e 22,22% OB. Na análise da RCQ, apresentaram valores acima dos recomendados: 24,56% dos homens e 82,14% das mulheres do G1 e 12,12% dos homens e 74,60% das mulheres do G2. Com relação a CC e CA, apresentaram valores indicativos de risco, respectivamente: no G1 (52,63% e 29,82% dos homens e 91,66% e 87,5% das mulheres) e no G2 (9,09% e 9,09% dos homens, e 80,95% e 55,55% das mulheres). Com relação à idade, as freqüências de SP e OB no G1(n=225) foram: SP (A1=11,11%, A2=8%, A3=1,77%), OB (A1=8,44%, A2=8,88%, A3=1,33%), e no G2(n=97) foram: SP (A1= 5,15%, A2= 5,15%, A3= 2,06%) e OB (A1=9,27%, A2=7,21%, A3=0%). Na comparação entre G1 e G2 observou-se diferença estatísticamente significativa entre as seguintes médias: IMC: [G1=27,23 e G2=23,26 x (p=0,0344)]; CA: [G1=99,09 e G2=89,51 (p<0,0001)]; CC: [G1=93,64 e G2=86,37 (p<0,0001)] e RCQ: [G1=93,64 e G2=86,37 (p<0,0001)]. Na correlação, verificou-se associação considerada como fraca positiva (p<0,05) entre PCR e as variáveis antropométricas e o perfil lipídico. Os resultados apontam para maior freqüência e intensidade de fatores de risco cardiovasculares adicionais a hipertensão em mulheres em relação aos homens, nas faixas etárias relativamente mais jovens, A1 e A2, em relação a mais velha, A3, e no grupo de idosos hipertensos, G1, em relação ao de idosos predominantemente saudáveis, G2. Observou-se correlação, considerada fraca positiva (r>0,30), entre PCR, perfíl lipídico e variáveis antropométrica (p<0,05). Esta tese apresenta uma relação de interface multidisciplinar, tendo o seu conteúdo uma aplicação nos campos da Fisioterapia, Educação Física, Medicina, Nutrição e da Bioquímica

Marcadores nutricionais e inflamatórios e sua associação com a morbimortalidade em hemodiálise

Background: Malnutrition, inflammation and comorbidities are frequent in patients with chronic renal failure in hemodialysis (HD), contributing for morbidity and mortality. Aims: To evaluate the correlation between anthropometric, laboratory parameters, bioelectrical impedance (BIA) and inflammatory markers with the morbidity and mortality of patients in HD, as well as the impact of its alterations throughout 12 months. Methods: 143 patients of a dialysis facility in Northeast Brazil were evaluated throughout 18 months. Patients with more than 3 months on dialysis, older than 18 years, without amputation of hands and feet, were included in the study. We performed a clinical (subjective global assessment - SGA), anthropometric (BMI, percent of ideal weight, MAC, MAMC, MAMA, percent of fat mass and TSF), laboratory (albumin, creatinine, lymphocyte count as nutritional markers and CRP, IL-6 and TNF- as inflammatory markers) evaluation and BIA (reactance, phase angle and percent of body cell mass) at the beginning of study and after 3, 6 and 12 months of follow-up. The association between study variables and deaths and hospitalizations in 6 and 12 months was investigated. The variable with significance < 10% in the univariate analysis had been enclosed in a multivariate logistic regression analysis. We also investigated the risk of mortality and hospitalization associated with differences in measurements of the variables at baseline and six months later. Results: Patients were aged 52.2 ± 16.6 years on the average, 58% were male, and mean dialysis vintage was 5.27 ± 5.12 years. The prevalence of malnutrition varied from 7.7-63.6%, according to the nutritional marker. The variables associated with morbidity and mortality in 6 and 12 months had been creatinine ≤ 9.45 mg/dl, phase angle ≤ 4.57 degrees, BMI ≤ 23 kg/m2, age ≤ 64.9 years, reactance ≤ 51.7 ohms; Charlson´s index ≥ 4 and socioeconomic status ≤ 7. During six months of follow up, decrease in albumin was associated with significantly higher mortality risk. Conclusions: This study detected that the best predictors of morbidity and mortality between nutritional and inflammatory markers are phase angle, reactance, creatinine and BMI and that changes in albumin values over six 107 months provide additional prognostic information. The authors believe that parameters of BIA may detect early changes in nutritional status and emphasize that longitudinal studies with larger number of patients are necessary to confirm these data and to recommend BIA as a routine nutritional evaluation in HD patients

Estado nutricional, desempenho motor e marcadores dermatoglíficos em escolares púberes

A fase da puberdade é o período em que ocorrem as maiores transformações características da adolescência. Por essa razão, este estudo objetivou identificar o estado nutricional, desempenho motor e marcadores dermatoglíficos em 2363 escolares púberes selecionados de forma estratificada, de ambos os sexos, com idades variando de 6 a 15 anos, matriculados no Ensino Fundamental (2ª a 9ª Séries) do ensino público no estado do Rio Grande do Norte. Foram avaliados o estado nutricional (Índice de Massa Corporal); as qualidades físicas básicas ( testes de coordenação, equilíbrio, agilidade, flexibilidade, força e velocidade); o potencial genético (método da dermatoglifia) e o estágio maturacional (auto avaliação de Tanner); Com relação ao estado nutricional observou-se que escolares acima do peso apresentam valores mais baixos em relação ao seu desempenho motor sendo esses valores, mais significativos nos meninos. No que se refere à maturação sexual, os resultados apontaram que os meninos atingem os estágios maturacionais primeiro que as meninas, não tendo encontrado correlação entre o potencial genético e os demais indicadores o que nos permite concluir que os escolares do estado do Rio Grande do Norte, principalmente os do sexo masculino sofrem influência significativa de seu estado nutricional e seu estágio maturacional no que diz respeito ao seu desempenho motor. Essa dissertação apresenta relação de interdisciplinaridade, tendo o seu conteúdo uma aplicação nos campos da Educação Física, Nutrição, Medicina e Enfermagem.