Po Hu

Gorham-Stout syndrome in mainland China: a case series of 67 patients and review of the literature.

ObjectiveGorham-Stout syndrome (GSS) is a rare disorder of uncertain etiology and unpredictable prognosis. This study aims to present a comprehensive understanding of this rare entity.MethodsA literature search in PubMed and three Chinese databases was performed to screen histologically proven GSS cases among Chinese residents in the mainland. We analyzed the patients’ clinical characteristics, the value of different treatment modalities and their influence on the clinical outcome.ResultsSixty-seven cases were finally enrolled. There were 43 men (64.2%) and 24 women (35.8%). The mean age at diagnosis was 28 years (1.5–71 years). The most common clinical symptoms included pain (n=40, 59.7%), functional impairment (n=13, 19.4%), and swelling (n=12, 17.9%). The radiographic presentation of 37 cases (55.2%) was disappearance of a portion of the bone. The others presented as radiolucent foci in the intramedullary or subcortical regions. A total of 42 cases provided data on therapy, these included surgery (n=27, 40.3%), radiation therapy (n=6, 9.0%), surgery combined with radiation therapy (n=2, 3.0%), and medicine therapy (n=7, 10.4%). For 30 of these 42 cases, follow-up data were available: 21 cases had the disorder locally controlled and 9 had a symptom progression. Fortunately, the disease is not fatal in the majority of cases.ConclusionsGSS has no specific symptoms and it should be taken into consideration when an unclear massive osteolysis occurs. The efficacies of different treatment modalities are still unpredictable and further research is required to assess the values of different treatments.

Meta-analysis of C242T polymorphism in CYBA genes: risk of acute coronary syndrome is lower in Asians but not in Caucasians

BackgroundA lot of studies have demonstrated that C242T polymorphism in CYBA genes may play an important role in the pathological process of acute coronary syndrome (ACS). However, the results are not consistent. To further evaluate this debate, we performed a meta-analysis to determine the relationship between C242T polymorphism and ACS.Methods and resultsWe screened PubMed/MEDLINE, EBSCIO, and EMBASE research reports until Mar. 2014 and extracted data from 10 studies involving 6102 ACS patients and 8669 controls. Subgroup analysis by ethnicity documented a significant decreased risk of ACS for C242T polymorphism in the Asian population under allelic comparison (odd ratio (OR) 0.73; 95% confidence intervals (CI) 0.64–0.83), dominant model (OR 0.71; 95% CI 0.62–0.82), and homozygote comparison (OR 0.57; 95% CI 0.35–0.92). However, in the overall population and especially with Caucasians, no significant association was uncovered. Further meta-regression analysis revealed that the heterogeneity among studies was largely attributed to ethnicity. No publication bias was detected through a funnel plot and an Egger’s linear regression test.ConclusionsTaken together, our results suggest that the C242T polymorphism might be a protective factor against developing ACS in the Asian population. Further researches will be needed to identify the confounding factors which modified the protective effect of T allele among Caucasians.概要目的探讨CYBA 基因C242T 基因多态性与急性冠脉综合征的关系。创新点提出了C242T 基因多态性对急性冠脉综合征的影响存在种族差异。方法荟萃分析了C242T 基因多态性与急性冠脉综合征的关系。结论对于亚洲人群而言, C242T 基因多态性为急性冠脉综合征的保护因素。

Effect of Tai Chi exercise on blood lipid profiles: a meta-analysis of randomized controlled trials

ObjectiveStudies have demonstrated that Tai Chi exercise improves blood lipid level with inconsistent results. A meta-analysis was conducted to quantify the effects of Tai Chi on blood lipid profiles in humans.MethodsWe screened the databases of PubMed, EMBASE, Cochrane Library (Central), Web of Science, China National Knowledge Infrastructure (CNKI), Wanfang data, and Clinicaltrials.gov for randomized controlled trials with Physiotherapy Evidence Database (PEDro) score more than 3 points up to June 2015. Six studies involving 445 subjects were included. Most trials applied 12-week Tai Chi intervention courses.ResultsIn comparison with the control group, blood triglyceride (TG) level difference between follow-up and baseline was statistically significantly lower in the Tai Chi practicing group (weighted mean difference (WMD) −16.81 mg/dl; 95% confidence intervals (CI) −31.27 to −2.35 mg/dl; P=0.02). A trend to improving total cholesterol (TC) reduction was found with Tai Chi (WMD −7.96 mg/dl; 95% CI −17.30 to 1.39 mg/dl; P=0.10). However, no difference was found in blood low-density lipoprotein cholesterol (LDL-C) or high-density lipoprotein cholesterol (HDL-C).ConclusionsTai Chi exercise lowered blood TG level with a trend to decrease blood TC level. Our data suggest that Tai Chi has the potential to implement meaningful blood lipid modification and serve as an adjunctive exercise modality. The relationship between Tai Chi exercise regimen and lipid profile change might have a scientific priority for future investigation.摘要目的探讨太极锻炼是否能改善血脂水平。创新点明确太极锻炼对血脂的影响,为非药物调脂治疗提供新手段。方法通过筛选太极锻炼持续4 周以上, PEDro 评分3分以上,且观察太极锻炼对血脂影响的成人随机对照试验, meta 分析太极锻炼对总胆固醇、低密度脂蛋白胆固醇、高密度脂蛋白胆固醇和甘油三酯的影响。结论通过meta 分析最终入选的6 项研究(共445 例患者)的结果显示,太极锻炼能显著降低血甘油三酯水平,且有降低总胆固醇的趋势,但是对于低密度脂蛋白胆固醇和高密度脂蛋白胆固醇未发现有明显影响。

A hospital-based survey of patients with severe valvular heart disease in China

OBJECTIVES Due to increasing aging, the epidemiology of VHD may have changed in China. This study aimed to provide contemporary information on the prevalence, distribution patterns, and etiology of severe VHD in China. METHODS This was a retrospective survey at Second Affiliated Hospital of Zhejiang University, which included all consecutive patients between 2010 and 2015. RESULTS In all, 139,496 patients were enrolled. Among severe valve diseases, MR was the most frequent (n=946, 0.68%) followed by MS (n=524, 0.38%), AS (n=392, 0.28%), and AR (n=371, 0.27%). Severe MR and AS prevalence rates increased strikingly with age. Rheumatic heart disease had an prevalence of 1.56% (n=2179), and remained one of the most common causes of severe VHD in patients younger than 65years old (99.5% of MS with rheumatic; 27.6% of MR with rheumatic; 25.7% of AS with rheumatic; 31.6% of AR with rheumatic). Aortic valve calcification was the predominant AS etiology, and its prevalence greatly increased with age. In severe AR, rheumatic fever was the most common etiology in patients below 65; in those above 65, etiology was mostly degenerative. In severe primary MR, mitral valve prolapse was the most common cause. Prevalence of secondary MR increased with age, from 16.4% in 18-44years old to 51.7% in individuals ≥75. CONCLUSIONS Severe valvular diseases are very common; rheumatic fever and degenerative valvular changes remain predominant causes in patients below 65 and older ones, respectively. Young adults present mainly with primary MR, while secondary MR is more common in elderly ones.

Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve

BACKGROUND Bicuspid Aortic Valve (BAV) is the most common congenital heart disease, affecting >1% of the general population. Up to date, three genes, NOTCH1, GATA5 and SMAD6, have been linked to the isolated form of BAV. However, potential genetic determinants remain largely unknown in most BAV patients. MATERIAL AND METHODS Targeted next-generation sequencing of 7 BAV candidate genes (NOTCH1, GATA5, SMAD6, NOS3, ADAMTS5, Alk2 and SMAD2) was performed in 32 BAV patients. Additional 35 BAV patients and 238 tricuspid aortic valve (TAV) patients, consisting of 107 patients from the transcatheter aortic valve implantation (TAVI) registry and 131 patients from the coronary artery disease (CAD) registry, were selected for further genotyping. RESULTS We found 2 rare non-synonymous variants in 2/7 genes in 3 BAV patients: one was NOTCH1:c.4297G>A and the other one was ADMTS5:c.935C>A that shared by two patients. NOTCH1:c.4297G>A has not been reported previously. ADMTS5:c.935C>A was predicted to be pathogenic by all applied algorithms. Alignment of protein sequences from all available species revealed that ADMTS5:p.Arg312Leu, produced by ADMTS5:c.935C>A, is located in a highly conserved region. The minor allele frequency of ADMTS5:c.935C>A in BAV patients was significantly higher than the matched population in TAV group (0.015 vs. 0, P=0.048). CONCLUSION Our results suggested that ADMTS5:c.935C>A are potentially associated with BAV. Further studies, such as large sample case-control replication test and functional research, are needed to explore the role of this rare variant in the development of BAV.

Predictors of Thrombocytopenia after Self-Expandable Transcatheter Aortic Valve Replacement: A Single-Center Experience from China

Objectives: The importance of thrombocytopenia (TP) has been discussed previously. However, data are still limited, especially on predictors of TP. We sought to investigate predictors of TP after transcatheter aortic valve replacement (TAVR), in particular, clinically significant TP. Methods: We reviewed a total of 123 consecutive patients undergoing TAVR in our medical center. They were stratified into 3 groups according to the nadir platelet count post-TAVR: no/mild TP, moderate TP, and severe TP. Clinically significant TP, also known as major TP, was defined as moderate-to-severe TP (a nadir platelet count <100 × 109/L and a >50% decrease in platelet count). Results: Baseline platelet, baseline hemoglobin, general anesthesia (GA), valve malpositioning and post-TAVR left ventricular ejection fraction were found to be predictors of post-TAVR nadir platelet count. Major TP was associated with a higher risk of major bleeding (OR 3.524, 95% CI 1.546-8.031) and 1-month mortality (OR 11.226, 95% CI 1.208-104.328). Age (OR 1.110, 95% CI 1.014-1.215) and GA (OR 6.494, 95% CI 2.058-20.408) were predictors of major TP. Conclusion: Post-TAVR nadir platelet count can be predicted based on baseline and procedural data. Old age and GA contribute to clinically significant TP.

Fractional Flow Reserve Guided Percutaneous Coronary Intervention Improves Clinical Outcome with Reduced Cost in Contemporary Clinical Practice.

Background: Fractional flow reserve (FFR) is currently considered as the gold standard for evaluating the functional significance of coronary stenosis. However, its potential benefits in real-world practice remain unknown in China. This study aimed to test the hypothesis that the use of FFR is associated with improved outcome and reduced cost in Chinese real-world clinical practice. Methods: A retrospective cohort study was carried out using the database of Second Affiliated Hospital of Zhejiang University, a tertiary and high-volume center in China. Clinical events were compared using the Cox proportional hazards model during a median follow-up of 13 months. Results: The study cohort consisted of 366 consecutive patients referred for coronary revascularization with adjunct FFR and 366 matched controls, from 2010 to 2014. Major adverse cardiac events (MACEs) (death, myocardial infarction, repeated revascularization, or hospitalization for angina) at 4 years were found in 12.0% of angiography-guided patients and 4.9% in the FFR-guided group (P < 0.001). The mean number of implanted stents was significantly lower in FFR treated subjects (0.52 ± 0.82 stents) compared with the angiography-guided group (0.93 ± 0.96 stents) (P < 0.001). No difference in overall costs at initial hospitalization was observed between angiography-guided percutaneous coronary intervention (PCI) compared with FFR-guided PCI (RMB 33,000 Yuan, range: RMB 7393–44,700 Yuan) versus RMB 21,200 Yuan (RMB 19,100–47,100 Yuan) (P = 0.54). However, costs for MACEs during follow-up were significantly reduced in the FFR-guided arm (P < 0.001). Conclusions: In the contemporary clinical practice, FFR-guided PCI is associated with decreased use of stents, improved clinical outcome, and reduced costs, compared with angiography-guided PCI.