RESUMO
OBJECTIVE: We sought to evaluate contractile function in single-ventricle patients before and after imposition of Fontan physiology. METHODS: Single right ventricle (SRV; n = 38) and single left ventricle (SLV; n = 11) patients underwent cardiac magnetic resonance imaging pre and post Fontan operation. Global radial strain (GRS), global circumferential strain (GCS), and global longitudinal strain were measured along with ejection fraction (EF) and atrioventricular valve regurgitation (AVVR). RESULTS: Age at cardiac magnetic resonance imaging before the Fontan operation was 3.1 ± 1.3 years and after the Fontan procedure was 5.8 ± 2.7 years. There were no significant EF differences between SRV and SLV patients before and after the Fontan procedure, and EF did not deteriorate significantly after the Fontan operation. GRS was significantly lower for SRV patients than for SLV patients before (24.3% vs 32.1%; P = .048) and after (21.8% vs 29.7%; P = .045) the Fontan procedure. GRS and GCS of the SRV patients deteriorated significantly after the Fontan operation (GRS, P = .01; GCS, P = .009). Strains showed positive correlations before and after the Fontan operation with positive correlations among each strain. Within all patients, strains correlated positively with EF. Strains and EF negatively correlated with AVVR (GRS P = .03, r = -0.22; GCS P = .03, r = -0.23; EF P < .001, r = -0.37). CONCLUSIONS: Strains were lower for SRV than for SLV patients before and after the Fontan operation and deteriorated after the Fontan operation. Our study suggests that strain measures might detect ventricular deterioration earlier than EF. Because strains before and after the Fontan operation were positively correlated, and negatively correlated with AVVR, the early institution of myocardial protective therapy including AVVR management, especially for SRV patients, might have benefit.
Assuntos
Técnica de Fontan , Coração Univentricular/fisiopatologia , Coração Univentricular/cirurgia , Função Ventricular , Fenômenos Biomecânicos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Volume SistólicoRESUMO
The prevalence of childhood obesity has increased worldwide. Although it is considered a polygenic inheritance disease, little is known about its susceptibility when the additive effect is considered. The aim of this study is to investigate whether the genetic risk score (GRS) based on previously associated obesity polymorphisms (SNP) rs9939609 (fat mass and obesity-associated (FTO)), rs6548238 (transmembrane protein 18 (TMEM18)) and rs16835198 (fibronectin type III domain containing 5 (FNDC5)) could serve as a predictor for anthropometric characteristics in a sample of Brazilian children and adolescents. This is a cross-sectional study with 1471 children and adolescents aged 6-17 years. BMI, waist circumference (WC) and percentage of body fat and metabolic parameters were verified. In all, three SNP were genotyped by TaqMan™ allelic discrimination. The metabolic and anthropometric parameters were compared between the genotypes, and the unweighted and weighted GRS (GRS and wGRS, respectively) were created to test the additive effect of these genetic polymorphisms on anthropometric parameters. The prevalence of overweight plus obesity was 41 %. Significant associations were identified for FTO rs9939609, TMEM18 rs6548238 and FNDC5 rs16835198 and for GRS and wGRS with anthropometric phenotypes. The higher score of wGRS was associated with obesity (OR: 2·65, 95 % CI 1·40, 5·04, P=0·003) and with greater WC (OR: 2·91, 95 % CI 1·57, 5·40, P=0·001). Our results suggest that these genetic variants contribute to obesity susceptibility in children and adolescents and reinforce the idea that the additive effect may be useful to elucidate the genetic component of obesity.
Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Fibronectinas/genética , Predisposição Genética para Doença/genética , Proteínas de Membrana/genética , Obesidade Infantil/genética , Adolescente , Antropometria , Composição Corporal/genética , Índice de Massa Corporal , Brasil/epidemiologia , Criança , Feminino , Genótipo , Humanos , Masculino , Obesidade Infantil/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Circunferência da Cintura/genéticaRESUMO
BACKGROUND AND AIMS: Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near/in PNPLA3, NCAN, LYPLAL1, PPP1R3B, and GCKR genes associated with non-alcoholic fatty liver disease (NAFLD) mainly in individuals of European ancestry. The aim of the study was to test whether these genetic variants and a genetic risk score (GRS) are associated with elevated liver fat content and non-alcoholic steatohepatitis (NASH) in Mexicans with morbid obesity. METHODS: 130 morbidly obese Mexican individuals were genotyped for six SNPs in/near PNPLA3, NCAN, LYPLAL1, PPP1R3B, and GCKR genes. Hepatic fat content [triglyceride (HTG) and total cholesterol (HTC)] was quantified directly in liver biopsies and NASH was diagnosed by histology. A GRS was tested for association with liver fat content and NASH using logistic regression models. In addition, 95 ancestry-informative markers were genotyped to estimate population admixture proportions. RESULTS: After adjusting for age, sex and admixture, PNPLA3, LYPLAL1, GCKR and PPP1R3B polymorphisms were associated with higher HTG content (P < 0.05 for PNPLA3, LYPLAL1, GCKR polymorphisms and P = 0.086 for PPP1R3B). The GRS was significantly associated with higher HTG and HTC content (P = 1.0 × 10(-4) and 0.048, respectively), steatosis stage (P = 0.029), and higher ALT levels (P = 0.002). Subjects with GRS ≥ 6 showed a significantly increased risk of NASH (OR = 2.55, P = 0.045) compared to those with GRS ≤ 5. However, the GRS did not predict NASH status, as AUC of ROC curves was 0.56 (P = 0.219). CONCLUSION: NAFLD associated loci in Europeans and a GRS based on these loci contribute to the accumulation of hepatic lipids and NASH in morbidly obese Mexican individuals.
Assuntos
Colesterol/metabolismo , Fígado/metabolismo , Hepatopatia Gordurosa não Alcoólica/patologia , Obesidade Mórbida/patologia , Triglicerídeos/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Colesterol/análise , Proteoglicanas de Sulfatos de Condroitina/genética , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lectinas Tipo C/genética , Lipase/genética , Lisofosfolipase/genética , Masculino , Proteínas de Membrana/genética , México , Proteínas do Tecido Nervoso/genética , Neurocam , Hepatopatia Gordurosa não Alcoólica/genética , Hepatopatia Gordurosa não Alcoólica/metabolismo , Obesidade Mórbida/genética , Obesidade Mórbida/metabolismo , Polimorfismo de Nucleotídeo Único , Proteína Fosfatase 1/genética , Triglicerídeos/análise , População Branca/genéticaRESUMO
O presente estudo buscou analisar as evidências de validade de conteúdo da versão brasileira da Gifted Rating Scales (GRS). Após tradução e adaptação dos itens, seis estudantes de pós-graduação atuaram como juízes, classificando os 72 itens que compõem o instrumento em seis subfatores (habilidade acadêmica, habilidade intelectual, criatividade, liderança, motivação e talento acadêmico). Os resultados demonstraram que a maior parte dos itens (n=54) foi classificada adequadamente pelos juízes, alcançando índices de concordância acima de 80 por cento. Cinco itens apresentaram problemas mais graves e devem ser reformulados. As análises dos coeficientes Kappa permitiram concluir que parece ser mais fácil para os juízes identificarem os itens pertencentes à área de motivação, sendo a área da capacidade acadêmica mais difícil. De uma forma geral, os resultados apontaram a adequação da versão brasileira aos conteúdos do modelo que ela pretende avaliar. Estudos futuros serão conduzidos com a finalidade de verificar se os mesmos fatores são mantidos na amostra brasileira.
This study investigates the evidence of content validity of the Brazilian version of the Gifted Rating Scales (GRS). After translated and adaptation of items, six post-graduate students acted as judges rating the 72 items that composing the instrument in six sub-factors (intellectual ability, academic ability, creativity, leadership, motivation and artistic talent). The results showed that most items (n=54) were properly classified by the judges, achieving concordance rates above 80 percent. Five items had more serious problems and should be reworked. The analysis of Kappas coefficient showed that seem to be easier for judges to identify the items belonging to the area of motivation, being the area of academic ability more difficult. In general the results confirmed the adequacy of the Brazilian version of the content model that its wants to assess. Futures studies will be conducted in order to examine whether these factors are held in the Brazilian population.
El presente estudio busca evidencias de validez de contenido de la versión brasileña de la Gifted Rating Scale (GRS). Tras la traducción y adaptación de los ítems, seis estudiantes de posgrado actuaron como jueces, clasificando los 72 ítems que componen el instrumento en seis subfactores (habilidad académica, habilidad intelectual, creatividad, liderazgo, motivación y talento académico). Los resultados demostraron que la mayor parte de los ítems (n=54) fue clasificada adecuadamente por los jueces, alcanzando índices de concordancia por encima de 80 por ciento. Cinco ítems presentaron problemas más graves y deben ser reformulados. Los análisis de los coeficientes Kappa permitieron concluir que parece ser más fácil para los jueces identificaren los ítems pertenecientes al área de motivación, siendo los de capacidad académica más difíciles. En general, los resultados demostraron la adecuación de la versión brasileña a los contenidos del modelo que ella pretende evaluar. Estudios futuros serán conducidos logrando verificar si los mismos factores son mantenidos en la muestra brasileña.
Assuntos
Humanos , Masculino , Feminino , Aptidão , Testes de InteligênciaRESUMO
O presente estudo buscou analisar as evidências de validade de conteúdo da versão brasileira da Gifted Rating Scales (GRS). Após tradução e adaptação dos itens, seis estudantes de pós-graduação atuaram como juízes, classificando os 72 itens que compõem o instrumento em seis subfatores (habilidade acadêmica, habilidade intelectual, criatividade, liderança, motivação e talento acadêmico). Os resultados demonstraram que a maior parte dos itens (n=54) foi classificada adequadamente pelos juízes, alcançando índices de concordância acima de 80 por cento. Cinco itens apresentaram problemas mais graves e devem ser reformulados. As análises dos coeficientes Kappa permitiram concluir que parece ser mais fácil para os juízes identificarem os itens pertencentes à área de motivação, sendo a área da capacidade acadêmica mais difícil. De uma forma geral, os resultados apontaram a adequação da versão brasileira aos conteúdos do modelo que ela pretende avaliar. Estudos futuros serão conduzidos com a finalidade de verificar se os mesmos fatores são mantidos na amostra brasileira.(AU)
This study investigates the evidence of content validity of the Brazilian version of the Gifted Rating Scales (GRS). After translated and adaptation of items, six post-graduate students acted as judges rating the 72 items that composing the instrument in six sub-factors (intellectual ability, academic ability, creativity, leadership, motivation and artistic talent). The results showed that most items (n=54) were properly classified by the judges, achieving concordance rates above 80 percent. Five items had more serious problems and should be reworked. The analysis of Kappas coefficient showed that seem to be easier for judges to identify the items belonging to the area of motivation, being the area of academic ability more difficult. In general the results confirmed the adequacy of the Brazilian version of the content model that its wants to assess. Futures studies will be conducted in order to examine whether these factors are held in the Brazilian population.(AU)
El presente estudio busca evidencias de validez de contenido de la versión brasileña de la Gifted Rating Scale (GRS). Tras la traducción y adaptación de los ítems, seis estudiantes de posgrado actuaron como jueces, clasificando los 72 ítems que componen el instrumento en seis subfactores (habilidad académica, habilidad intelectual, creatividad, liderazgo, motivación y talento académico). Los resultados demostraron que la mayor parte de los ítems (n=54) fue clasificada adecuadamente por los jueces, alcanzando índices de concordancia por encima de 80 por ciento. Cinco ítems presentaron problemas más graves y deben ser reformulados. Los análisis de los coeficientes Kappa permitieron concluir que parece ser más fácil para los jueces identificaren los ítems pertenecientes al área de motivación, siendo los de capacidad académica más difíciles. En general, los resultados demostraron la adecuación de la versión brasileña a los contenidos del modelo que ella pretende evaluar. Estudios futuros serán conducidos logrando verificar si los mismos factores son mantenidos en la muestra brasileña.(AU)