Summary. Moderate hyperhomocysteinaemia (MHH) is associated with arterial and venous thrombosis. A main genetic defect related to MHH is a C to T substitution at nucleotide 677 of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. A prothrombin 20210A mutation was recently identified as a risk factor for arterial and venous thrombosis. However, studies on the prevalence of mutant MTHFR C677T and prothrombin G20210A and their association with thrombosis were controversial and seldom reported in the Chinese population. We investigated the prevalence of MTHFR C677T and prothrombin G20210A genotypes by polymerase chain reaction (PCR) followed by restriction enzyme digestion in 420 Chinese subjects: 53 with deep venous thrombosis (DVT); 145 with cerebrovascular disease [115 cerebral infarction, 30 cerebral haemorrhage (CH)]; 100 with coronary artery disease (CAD); and 122 control subjects. The prevalence of the mutated MTHFR 677TT genotype and the 677T allele in normal controls was 12´3% and 30´7% respectively, similar to that in Caucasians and Japanese. The mutant 677T homozygotes and alleles were more frequent in patients with DVT than in controls (18´9% vs. 12´3%, 0´01 , P , 0´025; 48´1% vs. 30´7%, P , 0´005). The relative risk of DVT among the carriers of 677TT and 677T were significantly increased [odds ratios: 3´4, 95% confidence interval (CI) 1´3±9´5, and 3´6, 95% CI 1´7±7´7, respectively). The mutant MTHFR heterozygous 677C/T carriers were increased in patients with cerebral infarction compared with controls (53´9% vs. 36´9%, 0´01 , P , 0´025). Relative risk of cerebral infarction was 0´96 (95% CI 0´4±2´3) for 677TT homozygotes and 1´99 (95% CI 1´2±3´4) for 677C/T heterozygotes. However, the distribution of the MTHFR TT genotype was less frequent in patients with CAD with coronary artery stenosis of . 50% than in controls (2´8% vs. 12´3%, 0´025 , P , 0´05). Relative risk of CAD was not increased among the carriers of 677TT and 677T (odds ratios: 0´2, 95% CI 0±1´1, and 0´97, 95% CI 0´5±1´8, respectively). There were no differences in the distribution of the MTHFR genotypes among CH, CAD with coronary artery stenosis of , 50% and controls. The prothrombin 20210A mutation was not found in any patients or controls. These results demonstrated that MTHFR 677T was associated with DVT and cerebral infarction but was less associated with CAD in the Chinese population.

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SummaryActivated protein C resistance (APCR) is the most common hereditary condition of thrombosis in Western countries. And it is significantly linked to a single nucleotide polymorphisms (SNPs) in the coagulation factor V gene that results in the mutations at R506, R306 and HR2 alleles. To determine the prevalence of APCR and its association with the factor V gene SNPs in Chinese Han thrombotic patients, we investigated a total of 346 Chinese thrombotic patients and 140 normal controls for APCR using the APTT-based assays, according to manufacturer’s instructions, APC ratio ≦2 indicated APC resistance. Mutations of factor V at R506, R306, HR2 allele were detected by PCRMnl/I, Bst/NI, Rsa/I digestion as described before respectively. The results showed that the incidence of APC resistance were 12.0% (12 of 100 cases) in acute cerebral thrombosis (ACT) patients (P <0.05), 13.5% (13 of 96 cases) in acute myocardial infarction (AMI) patients (P <0.05), 16.7% (10 of 60 cases) in deep venous thrombosis (DVT) patients (P <0.05), 15.6% (14 of 90 cases) in systemic lupus erythematosus (SLE) patients (P <0.05) and 5.0% (7 of 140 cases) in normal controls. APCR is associated with thrombotic events. But no factor V R506Q mutation (FV Leiden) was found in all 5 groups. Only one AMI patient and one DVT patient revealed heterozygous R306G mutation, which was confirmed by direct sequencing PCR products. Additionally, two SLE patients showed to be heterozygous HR2 allele for the first time in the Chinese Han population. We concluded that APC resistance in the Chinese Han population might not be associated with mutations of factor V at R506, R306 and HR2 polymorphisms. Some other factors might contribute to APC resistance in the Chinese Han population.

In this trial, long-term therapeutic effects and clinical improvements in Chinese chronic heart failure patients optimized by QuickOpt or echocardiography were compared for atrioventricular (AV) and interventricular (VV) delay optimizations after cardiac resynchronization therapy (CRT) with pacing (CRT-P) or with pacing and defibrillator (CRT-D) therapy. One hundred and ninety-six subjects (50%) had dilated cardiomyopathy, 108 (27.6%) had ischemic heart disease and 112 (28.6%) were hypertensive and were randomized into QuickOpt (198) or echocardiographic optimization (control) (194) groups at ≤2-weeks post-implantation. Programmed AV/VV delay was optimized at baseline and at 3 and 6 months. Left ventricular end-systolic volume (LVESV), New York Heart Association (NYHA) class, specific activity scale (SAS), and the six-minute walk tests (6MWT) were evaluated by blinded researchers at 12 months. Of the QuickOpt group, LVESV decreased significantly by 24.7% ± 33.9% compared with baseline, while LVESV of Controls decreased by 25.1% ± 36.1% (P = 0.924). NYHA class, SAS and 6MWT also improved similarly in both groups at 12 months. Mortality in both groups was not significantly different (11.0% vs 7.6%, P = 0.289). However, there was a significant difference in the time required for optimization by QuickOpt compared with echocardiography (3.33 ± 3.11 vs 58.79 ± 27.03 minutes, P < 0.000).

BackgroundPrevious epidemiological studies have provided inconsistent conclusions on the effect of coffee consumption in the development of myocardial infarction (MI). The aim of the study was to evaluate the influence of coffee consumption and its potential dose-response patterns on the risk of developing MI.Materials and MethodsThree databases were searched for evidence of eligible studies. A random-effects model was used to pool the fully adjusted odds ratios (ORs) and the corresponding 95% confidence intervals (CIs). Dose-response analysis was performed to show the effect of each cup increased in daily coffee drinking on the risk of MI.ResultsSeventeen studies involving 233,617 participants were included in our study. The association between coffee consumption and risk of MI did not show statistical significance when pooling the outcome data for the coffee consumption categories of 1~2 vs. < 1 cup per day (OR = 1.06, 95% CI: 0.94–1.19) and 2~3 vs. < 1 cup per day (OR = 1.07, 95% CI: 0.94–1.23). Compared with < 1 cup, daily drinking of 3~4 cups and > 4 cups of coffee were significantly associated with the risk of MI, and the pooled ORs (95% CIs) were 1.40 (1.11–1.77) and 1.48 (1.22–1.79), respectively. The dose–response analysis showed a “J–shaped” curve relationship of the risk of MI with coffee consumption.ConclusionsDaily drinking of more than three cups of coffee was associated with a significantly increased risk of MI. This positive association was only found in men but not in women. The impact of gender on this association should be further evaluated.