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1.
Genet Mol Res ; 13(4): 9412-20, 2014 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-25501151

RESUMO

This study aimed to investigate the spectrum and features of congenital heart disease (CHD) in Xi'an, China using fetal echocardiography. All pregnant women referred for fetal echocardiography underwent a systematic fetal echocardiographic examination. Each case of complex defects was diagnosed according to the predominant pathophysiology, and the overall frequency of each defect was recorded and classified according to its location in the fetal heart. CHD was diagnosed in 195 fetuses. The top 5 types of CHD were, in order, single ventricle (15.9%, 31/195), atrioventricular septal defect (12.3%, 24/195), ventricular septal defect (VSD) (11.8%, 23/195), tetralogy of Fallot (10.8%, 21/195), and double-outlet right ventricle (8.2%, 16/195). The 195 cases of CHD comprised 316 defects in total. The most common defect was ventricular malformation (40.5%, 128/316), followed by great artery anomalies (38.0%, 120/316), endocardial cushion abnormalities (11.7%, 37/316), atrial abnormalities (6.6%, 21/316), and semilunar valve abnormalities (3.2%, 10/316). VSD accounted for the largest proportion (24.4%, 77/316) of the ventricular malformations. The total proportion of obstructive lesions in this group was much higher for the right than for the left side of the heart (18.4% (58/316) vs 9.5% (30/316), respectively). The spectrum of fetal CHD detected by echocardiography was much different compared to that accepted in the past. Complex defects were more common prenatally. Ventricular malformations were the largest constituent of all of the defects associated with fetal CHD, and VSD was the most common component of complex defects. Chinese fetal CHD encompassed more right-sided than left-sided obstructive lesions.


Assuntos
Ecocardiografia , Cardiopatias Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adolescente , Adulto , Feminino , Geografia , Humanos , Gravidez , Adulto Jovem
2.
Genet Mol Res ; 11(4): 3852-60, 2012 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-23212324

RESUMO

Association between the XRCC1 Arg399Gln polymorphism and susceptibility to gastric cancer has been investigated; overall, the results have been inconclusive. We made a meta-analysis of 13 case-control studies, including 3278 cases and 6243 controls. Crude odds ratios (OR) with 95% confidence intervals (95%CI) were used to assess this possible association. We found no evidence of a significant association between the XRCC1 Arg399Gln polymorphism and gastric cancer risk (in the additive inheritance model, OR = 0.986, 95%CI = 0.831-1.156, in the dominant inheritance model, OR = 1.044, 95%CI = 0.890-1.224 and in the recessive inheritance model, OR = 0.975, 95%CI = 0.894-1.063). We conclude that the XRCC1 Arg399Gln polymorphism is not a risk factor for developing gastric cancer.


Assuntos
Proteínas de Ligação a DNA/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Neoplasias Gástricas/genética , Substituição de Aminoácidos/genética , Intervalos de Confiança , Humanos , Razão de Chances , Viés de Publicação , Fatores de Risco , Proteína 1 Complementadora Cruzada de Reparo de Raio-X
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