Background Serum uric acid （UA）, the final product of purine degradation, has been proposed to be a marker for the severity and a possible predictor of mortality in patients with pulmonary arterial hypertension （PA...Background Serum uric acid （UA）, the final product of purine degradation, has been proposed to be a marker for the severity and a possible predictor of mortality in patients with pulmonary arterial hypertension （PAH）. The objectives of this study were to elucidate whether serum UA level correlates with the clinical features and the hemodynamic variables in Chinese patients with PAH and to compare the difference of the correlates in patients associated with different etiologies. Methods Serum UA was assessed in 228 patients with three types of PAH （idiopathic PAH （IPAH）, congenital heart disease related PAH （CHD-PAH） and connective tissue disease related PAH （CTD-PAH）） together with other clinical features. After the individualized treatment for at least 6 months, the UA levels and clinical features were re-evaluated in 88 patients. Results Serum UA was significantly elevated in patients with PAH compared with age-matched control subjects （（350.40±108.73） μmol/L vs （266.91±81.38） μmol/L）, P 〈0.001）. Serum UA negatively correlated with cardiac output and mixed venous saturation （SvO2） in all three types of PAH （all P 〈0.05）, positively correlated with the size of right ventricle in IPAH （P=0.002） and CTD-PAH （P=0.013） patients and with pulmonary vascular resistance just in CTD-PAH patients （P=0.001）. Serum UA significantly decreased from （365.80±120.46） μmol/L to （333.67±117.56） μmol/L in 88 patients （P=0.006） with vasodilator therapy for at least 6 months, accompanied with a reduction in pulmonary vascular resistance from （15.13±6.96） Woods unit to （12.00±5.04） Woods unit （P=0.001） and an increase in cardiac output from （2.63±0.98） L/min to （3.08±1.04） L/min （P=0.005）. Conclusions Serum UA increases in proportion to the clinical severity of all the three types of PAH, especially the CTD-PAH had a stronger correlations compared with IPAH and CHD-PAH. The serum UA levels also could partly reflect the response to the treatment in patients with PAH.展开更多
Background Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hy...Background Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy （HCM）. Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 （ACE2） gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM. Methods A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio （OR） and 95% confidence intervals （CO of variations of ACE2 for HCM. Results The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM （OR 1.34, 95%C/ 1.01-1.77, P=0.04; OR 1.11, 95%C/ 1.03-1.21, P=0.002, respectively）, and the 2 single nucleotide polymorphisms （SNPs） were in strong linkage disequilibrium （LD）, the TC haplotype was independently associated with a higher OR for HCM （OR=1.59, 95%C/1.21-1.87） after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM （（20.0±6.3） mm vs （17.9±5.5） mm, P=0.03 and （21.3±5.9） mm vs （17.9±5.8） mm, P=0.04, respectively）. No association was found between the two polymorphisms with female patients with HCM. Conclusion Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.展开更多
文摘Background Serum uric acid （UA）, the final product of purine degradation, has been proposed to be a marker for the severity and a possible predictor of mortality in patients with pulmonary arterial hypertension （PAH）. The objectives of this study were to elucidate whether serum UA level correlates with the clinical features and the hemodynamic variables in Chinese patients with PAH and to compare the difference of the correlates in patients associated with different etiologies. Methods Serum UA was assessed in 228 patients with three types of PAH （idiopathic PAH （IPAH）, congenital heart disease related PAH （CHD-PAH） and connective tissue disease related PAH （CTD-PAH）） together with other clinical features. After the individualized treatment for at least 6 months, the UA levels and clinical features were re-evaluated in 88 patients. Results Serum UA was significantly elevated in patients with PAH compared with age-matched control subjects （（350.40±108.73） μmol/L vs （266.91±81.38） μmol/L）, P 〈0.001）. Serum UA negatively correlated with cardiac output and mixed venous saturation （SvO2） in all three types of PAH （all P 〈0.05）, positively correlated with the size of right ventricle in IPAH （P=0.002） and CTD-PAH （P=0.013） patients and with pulmonary vascular resistance just in CTD-PAH patients （P=0.001）. Serum UA significantly decreased from （365.80±120.46） μmol/L to （333.67±117.56） μmol/L in 88 patients （P=0.006） with vasodilator therapy for at least 6 months, accompanied with a reduction in pulmonary vascular resistance from （15.13±6.96） Woods unit to （12.00±5.04） Woods unit （P=0.001） and an increase in cardiac output from （2.63±0.98） L/min to （3.08±1.04） L/min （P=0.005）. Conclusions Serum UA increases in proportion to the clinical severity of all the three types of PAH, especially the CTD-PAH had a stronger correlations compared with IPAH and CHD-PAH. The serum UA levels also could partly reflect the response to the treatment in patients with PAH.
文摘Background Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy （HCM）. Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 （ACE2） gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM. Methods A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio （OR） and 95% confidence intervals （CO of variations of ACE2 for HCM. Results The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM （OR 1.34, 95%C/ 1.01-1.77, P=0.04; OR 1.11, 95%C/ 1.03-1.21, P=0.002, respectively）, and the 2 single nucleotide polymorphisms （SNPs） were in strong linkage disequilibrium （LD）, the TC haplotype was independently associated with a higher OR for HCM （OR=1.59, 95%C/1.21-1.87） after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM （（20.0±6.3） mm vs （17.9±5.5） mm, P=0.03 and （21.3±5.9） mm vs （17.9±5.8） mm, P=0.04, respectively）. No association was found between the two polymorphisms with female patients with HCM. Conclusion Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.
