2006年 · 第119卷第14期

The elderly constitute a rapidly growing segment of our population and cardiovascular disease becomes more prevalent with increasing age,accounting for majority of their morbidity and mortality.1,2 ST-elevation acute myocardial infarction (STEMI) is the result of an abrupt cessation of blood supply caused by coronary occlusion, its process involving atherosclerotic plaque rupture or erosion,platelet aggregation and thrombus formation。

Abstract：Background Glaucoma is one of the leading causes of blindness in the world. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) are subtypes of glaucoma. Myocillin is the first gene identified to be involved in POAG. Recently, myocillin mutation has been found in PCG In this context, we reported a special glaucoma pedigree, which was composed of both PCG and POAG patients, and analyzed the mutation of myocillin in this pedigree.Methods The family was composed of the parents, a son and a daughter. All members of the family underwent the complete ophthalmologic examinations. All coding exons 1-3 and flanking introns of myocilin gene were screened for sequence alterations by polymerase chain reaction and direct DNA sequencing.Results The son was the proband, who was diagnosed as PCG in both eyes. The father was diagnosed as POAG in the right eye, the left eye was still normal. Both the sister and the mother of the proband had normal intraocular pressure without glaucomatous optic disc changes. The mutations in intron 2 of myocilin gene were detected in the family. While the proband and the father were homozygous, the mother and the sister were heterozygous for the mutation.Conclusions Homozygous mutation in intron 2 of myocilin gene is involved in both POAG and PCG. It is suggested that the pathogenesis might be overlapping in POAG and PCG。

Abstract：Background Oxidative stress such as low-density lipoprotein (LDL) oxidation is thought to be an important mechanism in Alzheimer's disease (AD). Paraoxonase 1 (PON1), an enzyme located on high-density lipoprotein,can prevent LDL from oxidation to some extent. It is also a potent cholinesterase inhibitor and an arylesterase,combating organophosphate poisoning and metabolization of environmental neurotoxins which might be responsible for neurodegeneration with aging. We evaluated the association of Gln192Arg polymorphism in the PON1 gene with AD in a Chinese Han ethnic population.Methods Patients and age-matched controls were recruited from outpatient clinics and a population-based epidemiological survey, respectively. Gln192Arg polymorphism in the PON1 gene was detected by allele-specific PCR technique in 521 patients with AD and 578 healthy controls.Results The presence of at least one of PON1 R alleles (Q/R or R/R) was lower in AD patients than in the controls (82.7% vs 87.4%; x2 = 4.68, P = 0.03). PON1 gene R allele frequency was lower in AD patients than in the controls (60.7% vs 64.7%, X2=3.85, P = 0.05). One-way ANOVA showed that PON1 genotype had no effect on the age of onset for developing AD. Logistic regression analysis demonstrated the age and sex-adjusted odds ratio (OR) for the risk of AD in PON1 of PON1 R allele carriers was 0.71 (P = 0.044, 95%CI, 0.51 - 0.99).Conclusion Our results indicate that Gln192Arg polymorphism in the PON1 gene is associated with AD, and PON1 R allele might be a protective factor for AD in a Chinese Han ethnic population。

Abstract：Background Tumor necrosis factor α (TNFα) is an important proinflammatory cytokine that has been implicated in the pathogenesis of inflammatory bowel disease (IBD). Recent studies have evaluated the role of TNF promoter polymorphisms in IBD, whereas the data are inconsistent. Trans-racial mapping in an ethnically distinct but homogenous population may help clarify these associations. We investigate the association between TNF promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han ethnic population.Methods We studied 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, China.Genotyping for 6 common TNF promoter polymorphisms (TNF -1031T/C, -863C/A, -857C/T, -380G/A,-308G/A, -238G/A) was carried out by polymerase chain reaction sequence-specific primers (PCR-SSP).Results TNF-308A was associated with disease (allele frequency patients 14.6% vs controls 8.9%, P=0.02).TNF -857T was increased in patients but without statistical significance (allele frequency 17.3% vs 12.2%,P=0.06). Haplotype analysis revealed 6 haplotypes including two (H5 and H3), which contained TNF -308A. H5was associated with disease (haplotype frequency patients -12.3% vs controls 7.5%, P=0.03). Of note the rare haplotype H3 has not previously been identified in Caucasian populations. Homozygosity for the haplotype H4comprising the common alleles at each TNF promoter single-nucleotide polymorphism (SNP) was negatively associated with disease (patients vs controls 24.5% vs 34.9%, P＜0.05).Conclusions We report the association with TNF -308A polymorphisms in Chinese patients with ulcerative colitis. The functional study in Chinese Han ethnic population is now required。

Abstract：Background Microwave endometrial ablation (MEA) is a new form of minimal invasive surgical procedure for menorrhagia. It has been widely adopted clinically in many countries. In this study, we compare the outcome of MEA and total hysterectomy for menorrhagia.Methods Sixty patients with menorrhagia were divided into MEA group or total hysterectomy (control) group (30 in each). The intra operative blood loss, operating time, either preserving the uterus or not, and length of recovery time in the two groups were compared. The independent samples t test was used to analyse our data in the study.Results In comparing the MEA group and the control group, the effective rates were 96% (29/30) and 100%(30/30,x2 = 0, P = 1.0). The operating time was (4.0± 1.1) minutes and (68.3 ± 1.9) minutes (t =-160.42,P = 0.00). The mean blood loss was 0 ml and 50 ml, respectively.Conclusions The curative effect of MEA is similar to that of total hysterectomy. When considering preservation of the uterus and postoperative recovery, MEA is obviously superior to total hysterectomy。

Abstract：Background Real-time three-dimensional echocardiography (RT-3DE) has made revolutionized improvements of cardiac imaging during the past few years. However, there is no standard examination method for RT-3DE so far. This study aimed to establish the diagnostic method of RT-3DE and evaluate its application in the diagnosis of complex congenital heart diseases (CHD).Methods Fifty patients with complex CHD were examined by RT-3DE with modes of Live 3DE and Full Volume. A series of novel volumetric views combined with Van Praagh sequential segmental approach were introduced to reveal the pathological morphology of the hearts, which were compared with the findings of two-dimensional echocardiography (2DE), angiography and cardiac surgery.Results In 50 patients, 190 image acquisitions of Full Volume were performed at several acoustic windows including subcostal, apical and parasternal regions. Among them, 94.2% (179/190) of image acquisitions were successful. Most sectional volumetric views could be clearly displayed in 92.6% of the successful image acquisitions. However, sectional volumetric views could not be clearly displayed in 7.4%, which was mainly due to poor perspective conditions of examination location, improper instrument multi-parameter setting and insufficient information of whole heart captured in Full Volume acquisitions. As compared with surgical findings and angiography, RT-3DE made correction to the diagnoses in 2 cases including 1 with corrected transposition of the great arteries and the other with single atrium and mitral cleft. The diagnoses initially made by 2DE for these 2 patients were double outlet right ventricle with transposition of the great arteries and complete atrio-ventricular septal defect.Conclusions RT-3DE can clearly display the pathological morphology of complex CHD by a series of novel volumetric views combined with sequential segmental approach through providing more spatial informative cardiovascular structures, which provides a practical method for RT-3DE diagnosis。

Abstract：Background Recently, substrate mapping (SM) has been described to facilitate catheter ablation of stable and unstable ventricular tachycardia (VT) after myocardial infarction. However, SM is time consuming with potential disadvantages of multiple ablation lines such as impairment of ventricular function or proarrhythmia. The aim of the present study was to delineate a stepwise approach to SM to shorten procedure time and limit the possibility of complications.Methods SM was performed in 14 infarct survivors referred for VT ablation using an electroanatomical mapping system (CARTO) to define infarct regions. A new stepwise approach for SM was designed as follows.The initial ablation site was identified by pace- and entrainment mapping in case of stable VT and by pace mapping only in case of unstable VT. Based on the CARTO voltage mapping, linear ablation was done from this site to the center of the scar and perpendicular to the boundary of the scar or to the mitral annulus. Additional lines were performed only when VT remained inducible. A maximum of 3 ablation lines were created during one procedure.Results A total of 57 VTs (21 stable, 36 unstable) were induced during the procedures. VT was no longer inducible after the first linear ablation in 2 patients, after the second linear ablation in 6 patients and after the third linear ablation in 3 patients. Either VT or ventricular fibrillation was still inducible at the end of the procedure in 3 patients. Procedure time averaged (291±85) minutes, fluoroscopy time (10±7) minutes. VT recurred in 3patients. Following a second procedure in 2 patients, there were no further VT recurrences. Overall, there was a significant reduction in VT episodes 3 months after [median: 0, interquartile ranges (IQR): 0-1] compared with 3months before ablation (median: 25, IQR: 16-105, P＜0.01).Conclusions This stepwise approach to SM is effective in facilitating ablation of stable and unstable VT. It reduces procedure and fluoroscopy time, and may help to improve the risk-benefit ratio of VT ablation。

Abstract：Background Patients with end-stage renal disease have a high mortality from coronary artery disease, but the impact of moderate renal insufficiency on clinical outcomes after percutaneous coronary intervention (PCI) and the effect of drug-eluting stent implantation in these patients remain unclear. This study determined the long-term effect of moderate renal insufficiency on death and major adverse cardiac events (MACE) after stent based PCI and examined whether drug-eluting stent implantation could favourably influence clinical outcome.Methods Major adverse cardiac events and causes of mortality were determined for 1012 patients undergoing percutaneous intervention from January 1, 2002 to December 31, 2004 at Shanghai Ruijin Hospital. Based on estimated creatinine clearance levels, long term outcomes were compared between patients with estimated creatinine clearance ＜60 ml/min (renal insufficiency group; n=410) and those with estimated creatinine clearance ≥60 ml/min (control group; n=602). Subgroup analysis was also made for patients with renal insufficiency between drug eluting stent (n=264) and bare metal stent implantation (n=146) during PCI.Results During follow-up (average 17 months) after successful PCI, all causes of death (7.1% vs 2.3%, P＜0.01)and cardiac death (3.4% vs 1.0%, all P＜0.01) were significantly higher in renal insufficiency group than in control group. For patients with moderate renal insufficiency, drug-eluting stent implantation reduced significantly all causes of death (5.3% vs 10.9%, P＜0.05) and occurrence of major cardiac adverse events (15.1%vs 24.6%, P＜0.05) compared with bare metal stents.Conclusions Moderate renal insufficiency is an important clinical factor influencing the mortality after PCI in patients with coronary artery disease and the use of drug-eluting stents should be the preferred therapy for the improvement of long-term outcomes in such patients。

Abstract：Background Recent studies have shown that thiazolidinediones (TZDs) could reduce in-stent restenosis and improve clinical outcomes in patients with type 2 diabetes after coronary stent implantation. It remains unclear whether nondiabetic patients with metabolic syndrome after stenting could also benefit from the treatment with TZDs.Methods Three hundred and sixty patients with metabolic syndrome who underwent coronary stent implantation were randomly assigned to a rosiglitazone group (n=180) or a control group (n=180). Patients in the rosiglitazone treatment group were treated with rosiglitazone 1 day before coronary stenting (4 mg once daily)and treatment was continued until the 9 months follow-up; while in the control group, patients were treated with placebo 1 day before the procedure and until the 9 months follow-up. Adverse events were death, myocardial infarction and urgent target vessel revascularization within 9 months after coronary stenting.Results One hundred and fifty two patients in the rosiglitazone group and 145 patients in the control group survived during the follow-up. Baseline characteristics among patients in the two groups were well balanced.There was no significant difference in target vessels or the procedure of stent implantation. Compared with the control group, treatment with rosiglitazone was associated with a lower rate of death, myocardial infarction and urgent target vessel revascularization (7.2% vs 14.5%, P=0.044).Conclusion Rosiglitazone could reduce the risk of the adverse cardiovascular event and improve clinical outcomes in nondiabetic patients with metabolic syndrome after coronary stent implantation。

Abstract：Background Coronary chronic total occlusion (CTO) remains one of the most challenging lesion subsets in interventional cardiology, even with the development of medical device and operator expertise. This study was conducted to examine the relationship between lesion characteristics and procedural success and the incidence of in-hospital major adverse cardiac events (MACE) after percutaneous coronary intervention (PCI) for CTO.Methods Clinical and coronary angiographic data of 1263 patients with CTO who underwent PCI between June 1995 and December 2005 in Shenyang General Hospital of PLA were retrospectively analyzed.Results There were 1625 CTO lesions located in 1596 vessels with a mean occlusion time of 48.9 months. A total of 1647 coronary stents were implanted to the target lesions. The overall patient and lesion success rates were 90.8 % (1147/1263) and 88.9 % (1445/1625), respectively. The success rate of PCI was declined with long duration of occlusion, abrupt missing stump, bridging collaterals ≥15 mm in occluded length, moderate to severe calcification or tortuosity and ostial or distal location of CTO lesions (P＜ 0.05). Procedural failure occurred in 116 patients, caused by impossibility of guide-wire (81.0%) or balloon (19.0%) to pass through the occlusion.There was no death during procedure, but 2 patients suffered from acute stent thrombosis and other 9 patients had acute or late pericardial perforation. Those complications were all successfully treated. After procedure, 3patients died, 4 experienced urgent target vessel revascularization because of subacute stent thrombosis and 1underwent coronary bypass graft surgery due to coronary fistula during in-hospital period. The overall in-hospital MACE rate was 0.6% (8/1263). Drug-eluting stents were used in 198 patients without in-hospital MACE.Conclusions In an experienced heart center, it is possible to obtain a relatively high success rate of PCI and favorable clinical outcomes for patients with coronary CTO lesions。

Abstract：Background Recently, numerous randomized and controlled trials have demonstrated great advantages of drug eluting stents (DES) with respect to significant reduction of restenosis and recurrence of symptoms and improvement of clinical outcomes after percutaneous coronary intervention (PCI). Little is known about the comparative effects between DES and bare metal stents (BMS) for bifurcation angioplasty in the Chinese population. We compared the inpatient and 7-month follow-up outcomes between DES and BMS for the treatment of bifurcation lesions.Methods From April 2004 to October 2005, 291 Chinese patients [85.9% male, mean age (57.8± 10.4) years]underwent DES (387 lesions) and/or BMS (297 lesions) implantation for bifurcation lesions. Clinical and angiographic follow-up was performed at 7 months.Results Compared with BMS group, patients in DES group had significantly lower rates of restenosis at main branch (9.5% vs 28.7%, P ＜ 0.001) or side branch (14.5% vs 37.0%, P ＜ 0.001) and major adverse cardiac events (MACE) (14.0% vs 26.3%, P = 0.000). The occurrence rate of late in-stent thrombosis did not differ between the two groups in both main (0.8% vs 0, P = 0.224) and side branches (1.4% vs 0, P = 0.198). Target lesion revascularization (TLR) was less frequent in DES group for main branch (8.3% vs 21.3%, P ＜ 0.001) and for side branch (7.6% vs 23.5%, P ＜ 0.001). Multivariate regression analysis revealed that total stent length (OR = 1.029,P = 0.01), postprocedural in-stent minimum lumen diameter (OR = 0.476, P = 0.03) and stent type (OR = 3.988,P = 0.0001) were independent predictors of TLR for main branch. Prior history of coronary intervention (OR =2.424, P = 0.041), angulated lesion (OR = 2.337, P = 0.033), postdilation (OR = 0.267, P = 0.035) and stent type (DES vs BMS, OR = 5.459, P = 0.000) were independent predictors of TLR for side branch.Conclusion The implantation of DES may be associated with greater reduction of restenosis and TLR than BMS in bifurcations angioplasty。

Cardiovascular diseases are the most common cause of hospitalization and a major contributor to mortality in the western world. Since hypertension is a major risk factor for cardiovascular disease,kidney failure and stroke, control of hypertension is an important goal of cardiovascular therapies。

Multiple myeloma is characterized by the accumulation of malignant plasma cells in the bone marrow. Significant progress in molecular mechanisms of signaling pathways underlying the survival and/or proliferation of these cells has been achieved。

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1,2which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2.3 Based on nucleotide mismatches between SMN1 and SMN2,the following two DNA tests are usually performed:single-strand conformational polymorphism (SSCP)3and polymerase chain reaction (PCR) followed by a restriction enzyme digestion.4,5 In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography (DHPLC), which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1。

Pyoderma gangrenosum (PG) is a rare ulcerative cutaneous condition with distinctive characteristics, and the aetiology is not clear yet. PGis commonly associated with inflammatory bowel disease including ulcerative colitis and Crohn's disease.1,2 This condition is within the spectrum of the neutrophilic dermatoses. The features of PG are not specific histopathologically。