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1.
目的分析右室非流出道室性心动过速(RVNOT)和致心律失常性右室心肌病(ARVC)两者之间关系,探讨两者病因、早期诊断措施以及正确治疗方法。方法回顾总结19例已确诊为右室起源的右室非流出道室性心动过速住院治疗患者,其中男16例,女3例,平均发病年龄(32.5±9.6)岁。患者分为2组,诊为右室非流出道室性心动过速而未发现有器质性心脏病者8例,并以RVNOT-N表示;诊为致心律失常性右室心肌病者11例,并以ARVC表示。对每例患者均进行详细的临床资料收集,并进行电话随访。结果辅助检查:室速发作时心电图表现上RVNOT-N组患者均呈左束支图形,按起源点不同表现电轴正常或左偏, ARVC组患者电轴亦表现为正常或左偏,形态多样化,均出现LBBB形态室速,下壁及胸前导联QRS形态变化较多;胸片RVNOT-N组患者均无心脏扩大及心室增大,而ARVC组7例报告心脏扩大。心脏彩超记录ARVC组右室扩张、右室功能低下,而RVNOT-N组无明确阳性记录;CT及MRI检查ARVC组中有右室变薄、右室收缩力下降、右室增大、纤维脂肪影、左室受累等指标,组间统计结果除左室受累1项外,余4项均差异有统计学意义。治疗情况:18例患者接受电生理检查 射频消融术,仅3例手术成功,7例部分消融成功,术后部分患者服用胺碘酮、倍他乐克,心律平等药物,3例ARVC组患者植入ICD。随访情况:16例仍间断有室速发作,14例需再入院治疗,1例死亡,余患者尚存活。11例患者坚持服用维持剂量胺碘酮,部分患者连用或单独服用倍他乐克、索他络尔、氨酰心安等药物。讨论右室非流出道室性心动过速可能为致心律失常性右室心肌病的早期表现。ARVC多有家族史,国际上已报道6个ARVC的基因相关位点。目前针对ARVC的诊断除依靠病史、ECG外主要依靠X线片、UCG、CT、MRI等影像学检查.绝大多数患者需要口服抗心律失常药物控制症状发作,以胺碘酮及β-阻滞剂最为常用。ARVC患者因其有进行性心肌病变基础,射频消融根治室性心律失常的成功率低,手术风险及难度较大,不宜作为常规治疗方法。症状严重、反复出现恶性室性心动过速或心室颤动的ARVC及RVNOT-N患者,应尽早安装植入型心律转复除颤器(ICD),以及时终止室速发作,预防猝死。  相似文献   

2.
【目的】 探讨年轻的无全身其他心血管疾病的阴茎勃起功能障碍(ED)患者的血管内皮功能与左室舒张功能的相关性?【方法】 选取我院泌尿外科门诊或住院确诊ED的患者30 例作为病例组(平均年龄30.4 ± 4.3岁),健康对照组 33例(平均年龄29.8 ± 3.9岁)?利用常规超声心动图和组织多普勒方法进行心功能评价?常规超声心动图计算左室射血分数(EF),二尖瓣E峰?A峰,E/A,左室等容舒张时间(IVRT)?左室等容收缩时间(IVCT)?脉冲血流多普勒Tei指数?组织多普勒计算二尖瓣后瓣环的E′?A′,等容舒张时间(IVRT′)?等容收缩时间(IVCT′)?心肌做功指数(MPI)?E/E′,及血流多普勒与组织多普勒测量的等容舒张时间差值(TIVRT-IVRT′)?同时测定研究对象的血流介导的肱动脉内皮依赖性舒张功能(FMD)?【结果】 与正常对照组相比,ED患者血流介导的内皮依赖性舒张功能降低(8.5% ± 2.7% vs 13.4% ± 2.5%,P < 0.001),血流多普勒Tei指数增大(0.55 ± 0.08 vs 0.41 ± 0.06,P < 0.001),IVRT延长(85.5 ± 13.4 ms vs 61.7 ± 8.4 ms,P < 0.001), 差异均有统计学意义?FMD与IVRT(r = -0.63)?Tei 指数(r = -0.55)及TIVRT-IVRT′(r = -0.47)均有显著相关性(P < 0.001)?FMD与E/E′?E?E/A,LVEF均无显著的相关性?【结论】 在ED患者,血流介导的肱动脉内皮依赖性舒张功能FMD及左室舒张功能降低?IVRT作为评价舒张功能的一个敏感指标,与FMD存在显著相关性?  相似文献   

3.
【目的】 对比分析支气管封堵器和双腔支气管导管在儿童患者的临床放置及其单肺通气的效果? 【方法】 56例择期行胸腔镜辅助手术的儿童患者随机分为双腔支气管导管组(group DLT)和支气管封堵器组(group BB),每组28例?两组患者在麻醉诱导后进行支气管封堵器或双腔支气管导管置入?记录两组诱导插管前后血流动力学变化?记录建立双肺隔离时间?一次成功率?肺萎陷程度?重新调整次数?气道峰压?胸膜打开后20 min动脉血气?手术时间?术中缺氧情况以及拔管后早期咽痛声嘶发生率?【结果】 与双腔支气管导管组相比,支气管封堵器组建立双肺隔离时间较长,(173.1 ± 75.1 )vs (95.6 ± 30.2) s,P < 0.05;肺萎陷程度相似,P > 0.05;术中平均气道峰压较高,(28.11 ± 5.76 )vs( 21.57 ± 4.02 )cmH2O,P < 0.05;胸膜打开后20 min动脉血pH较低,7.35 ± 0.03 vs 7.42 ± 0.06,P < 0.05; PaCO2较高,平均(43.01 ± 7.25) vs( 35.79 ± 3.17) mmHg, P < 0.05;术后早期声音嘶哑发生率较低,14% vs 50%,P < 0.05;术后早期咽喉疼痛发生率较低,35%% vs 64%,P < 0.05?【结论】 对儿童患者,支气管封堵器可实现有效单肺通气和双肺隔离?支气管封堵器咽喉损伤较小,具有一定的优势?  相似文献   

4.
目的对致心律失常性右室心肌病(ARVC)与特发性右室流出道室性心动过速(IRVOT-VT)的临床与心电学特点进行观察和探讨。方法选取2013年1月至2015年1月长垣县中医院收治的符合ARVC和IRVOT-VT标准的患者各100例,对其临床表现、心电学特点进行分析。结果 ARVC和IRVOT-VT患者性别比例、超声心动图、晕厥史差异有统计学意义(P<0.05);ARVC和IRVOT-VT患者在窦性心律时的epsilon波、RBBB、V1~V3T波倒置、肢体导联低电压的发生率以及V1~V3QRS波宽度,室性心动过速时的V1QRS波宽度、额面电轴比较,差异有统计学意义(P<0.05)。结论 ARVC与IRVOT-VT患者间性别比例、晕厥史、超声心动图、心电图等指标有很大差异,只有明确不同才能对症治疗。  相似文献   

5.
《陕西医学杂志》2016,(7):807-809
目的:对比观察右室间隔部与心尖部起搏对左室重构、QRS波时限的影响。方法:收集随访资料完整的植入双腔心室起搏器患者82例,其中右室心尖部起搏组40例和右室间隔部起搏组42例。均随访观察3年以上,行心脏超声检查测定左室舒张末期容积(LVEDV)、左室收缩末期容积(LVESV)及左室射血分数(LVEF),记录心电图测完全起搏QRS波时限,对比分析两组检测结果。结果:相比右室心尖部起搏,右室间隔部起搏对LVEDV、LVESV及LVEF影响较小[(116.2±11.2)ml vs(125.4±15.6)ml,(57.1±7.1)ml vs(61.2±9.3)ml,(54.6±5.5)%vs(47.6±4.4)%],差异有统计学意义(P均<0.05);QRS波时限较短[(138.9±10.3)ms vs(153.8±13.7)ms],差异有统计学意义(P<0.05)。结论:右心室间隔部起搏优于右心室心尖部起搏,其更符合生理性起搏。  相似文献   

6.
目的:探讨Hoffmayer心电图积分法早期鉴别起源于右室流出道的室早或室速属于特发性还是致心律失常性右心室心肌病(ARVC)所伴发。方法:收集2017年11月至2020年12月就诊于承德市中心医院40例患者。其中30例室性早搏或者室性心动过速是特发性右室流出道,10例室性早搏或者室性心动过速是ARVC伴发,心电图两位医师按照Hoffmayer心电图积分方法,把40例患者的心电图分析,心电图是窦性心律伴有室性早搏或室性心动过速。先用总积分方法分析上述40例患者的Hoffmayer心电图积分,再用单项积分方法分析上述40例患者的Hoffmayer心电图积分,然后跟临床诊断进行对比,最后计算该分析方法诊断的阴性预测值、阳性预测值、特异性、敏感性。结果:ARVC伴发室早或室速组与特发性室早或室速组的Hoffmayer总积分≥5分、室早或室速的窦性心律胸导联TV1~V3倒置(3分)的比例差异均有统计学意义;特发性和ARVC用Hoffmayer心电图积分≥5分,分别为30例和10例,正确诊断右室特发性室性早搏或室性心动过速和ARVC患者伴有室性早搏或室性心动过速敏感性为80.0%,特异性为90....  相似文献   

7.
【目的】了解新疆维吾尔族肾虚血瘀型耳聋患者线粒体mtDNA12srRNA基因突变的情况并探讨其与中医遗传学的关系。【方法】采用PCR直接测序法对新疆维吾尔族肾虚血瘀型耳聋患者(耳聋组)105例和健康对照组93例进行线粒体mtDNA12srRNA基因突变的检测。【结果】耳聋组线粒体mtDNA12srRNA基因A1555G突变4例,对照组未发现A1555G突变。【结论】新疆维吾尔族肾虚血瘀型感音神经性耳聋患者mtDNA12srRNA基因突变率为3.81%,提示从中医遗传学角度防治耳聋可能是一种新的途径。  相似文献   

8.
22例致心律失常性右室心肌病的远期随访研究   总被引:1,自引:0,他引:1  
目的:通过对22例致心律失常性右室心肌病(ARVC)患者的远期随访观察,探讨ARVC的临床特征和远期预后.方法:对1996~2006年于南京医科大学第一附属医院确诊为ARVC的22例患者进行回顾性分析并随访,随访内容包括治疗经过、症状、有无猝死以及心电图、超声心动图、动态心电图等.结果:22例ARVC患者平均随访时间(6.1±2.9)年(2.2~12年).共有2例患者猝死,年平均病死率1.5%.心电图随访中新出现Epsihm波3例、肢体导联低电压2例、完全性右柬支传导阻滞1例,完全性左束支传导阻滞1例,T波倒置1例,T波倒置导联数增加2例;比较随访前后肢体导联电压的绝对值和有明显降低(P<0.01).心脏超声示左室结构和功能在随访前后无明显变化(P0.05).10例射频消融成功的患者经随访有7例室速复发,均为新形态的室速;2例安装ICD患者,ICD有效工作并存活;10例单纯口服抗心律失常药物治疗患者,6例室速复发,其中3例患者出现新形态的窜速,2例猝死.结论:①ARVC患者发病年龄以中青年为主,随访期间心电图肢导电压绝对值和降低,超声心动图较少发现左心结构、功能有明显变化;②以药物或射频消融治疗ARVC复发率均较高,目前ICD使用率较低.  相似文献   

9.
导管射频消融治疗36例右室室性心律失常临床分析   总被引:1,自引:0,他引:1  
目的 探讨经导管射频消融(RFCA)治疗右室室性心律失常疗效.方法 36例右室室性性心律失常中男性16例,女性20例,年龄(43.21±13.31)岁.5例为致心律失常性右室心肌病(ARVC),31例为特发性右室流出道室性心律失常.31例特发性右室流出道室性心律失常采用传统的起搏与激动标测.5例ARVC在非接触标测系统EnSite3000指导下进行消融治疗.结果 35例消融成功,1例失败,成功率97%.1例复发.右室流出道(RVOT)起源的(VT)和室性早搏(PVC)具有典型的心电图特征,表现为典型的左束支传导阻滞型伴电轴右偏.RVOT的起源点不同,其12导联心电图特征不同,I、Ⅱ、Ⅲ和avF导联呈RR'型.v1~v3具有深S波是游离壁起源的特征.ARVC表现为典型的左柬支传导阻滞型伴电轴右偏,窦性心律时v1~v3T波浅倒置,心脏核磁或心脏超声心动图见有室心肌运动减弱.1例ARVC病例在消融过程中出现室颤,经电除颤后继续消融成功.结论 RFCA是一种安全、有效的治疗方法.EnSite3000非接触标测系统定位快速准确,适用于ARVC等血流动力学不稳定的心律失常和多起源的复杂室性心律失常的标测.  相似文献   

10.
 【目的】探讨黄体生成素(luteinizing hormone,LH)β亚基Trp8Arg和Ile15Thr突变与中国人多囊卵巢综合征(polycystic ovary syndrome,PCOS)的关系。【方法】采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术检测113例PCOS患者和68例正常妇女,分析LHβ亚基基因突变与PCOS之间的关系。【结果】PCOS组血清LH、睾酮、游离睾酮及胰岛素抵抗指数(HOMA-IR)均显著高于对照组(P<0.05)。在两组中均有β亚基突变发现,Trp8Arg突变率在PCOS组16例(14.16%),对照组4例(5.88%);Ile15Thr突变率在PCOS组15例(13.27%),对照组4例(5.88%),突变频率在两组间没有统计学差异。两组中突变杂合子与非突变者性激素水平没有统计学差异。【结论】PCOS患者促性腺激素和性激素水平发生紊乱。PCOS组LHβ亚基Trp8Arg和Ile15Thr突变发生率高于正常对照组,但差异未有统计学意义。本研究未发现突变杂合子改变了LH的生物学功能。  相似文献   

11.
【目的】探讨在合并左室收缩功能不全慢性闭塞病变(chronic total occlusion, CTO)病变PCI(percuteneous coronary intervention)过程中主动脉内球囊反搏 (Intra aortic balloon pulsation,IABP)预处理的临床意义。【方法】回顾性分析2004年到2011年南京市第一医院心内科,因合并左室收缩功能不全CTO患者而行PCI及IABP治疗的患者63例,按照IABP置入时间分组为PCI术前IABP预处理组和PCI术后IABP组。记录两组患者的基线临床资料,比较两组患者术中靶病变成功血运重建率,无复流发生率,PCI相关心肌梗死发生率,术后一年内全因死亡率。【结果】两组的靶病变血运重建率IABP预处理组为75.2%,术后IABP组为63.2%(P>0.05);IABP预处理组无复流发生率为16.3%,术后IABP组无复流发生率为42.1%(P<0.05);PCI相关心肌梗死发生率IABP预处理组为75.6%,术后IABP组为52.6%(P<0.05);术后一年内全因死亡率分别为:IABP预处理组为18.6%,术后IABP组为31.6%(P>0.05)。【结论】在合并左室收缩功能不全CTO病变介入治疗中,IABP预处理较术后IABP能显著减少术中无复流发生率,显著减轻术后PCI相关心肌梗死发生率,对靶病变血运重建率无显著影响,对一年内全因死亡率无显著影响。  相似文献   

12.
BACKGROUND: Patients with conduction abnormalities may have abnormal images on perfusion scintigraphy without evidence of coronary artery disease (CAD). Based on the presence of left ventricular perfusion abnormalities in left bundle branch block and taking advantage of the Tc-99m sestamibi for the assessment of myocardial perfusion of both ventricles, we aimed to evaluate right (RV) and left (LV) myocardial perfusion in patients with right bundle branch block (RBBB). METHODS: This study included 21 patients with RBBB and 21 control subjects without conduction abnormality. None had previous myocardial infarction, known CAD, left ventricular hypertrophy, LVEF <55%, congenital, pulmonary or valvular heart disease. Rest and stress SPECT images were obtained using 1-d Tc-99m sestamibi SPECT protocol. Regional perfusion of LV and RV myocardium was semiquantitatively evaluated. Also, RV/LV uptake ratio was calculated in two different ways. RESULTS: In patients with RBBB, the normality ratios of RV and LV myocardial perfusion were very high (both 90.5%) and not different from those of patients with normal intraventricular conduction. In the comparison of RV/LV uptake ratios, no significant difference was found between the RBBB and control groups. CONCLUSIONS: LV perfusion, RV perfusion or R-to-L perfusion ratio were not significantly influenced by the conduction abnormality in this selected patient population with RBBB. Tc-99m sestamibi myocardial scintigraphy could help in the exclusion of myocardial ischemia in patients with RBBB.  相似文献   

13.
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiac disease predominantly caused by mutations in desmosomal protein genes. Previous genetic analyses of the Chinese ARVC population are limited to small size and restriction to a single gene. This study was aimed to investigate the genotype in a large series of Chinese patients with ARVC through comprehensively screening nine ARVC-causing genes. Methods A total of 100 unrelated ARVC patients and 300 age, gender and ethnicity matched healthy controls were genetically tested with multiplexing targeted resequencing for nine previously reported ARVC-causing genes, including plakophilin-2, desmoplakin, desmoglein-2, desmocollin-2, plakoglobin, transforming growth factor beta-3, transmembrane protein 43, desmin and Lamin A/C. Results Fifty-nine mutations were identified in 64% of the patients, among which, 93% were located in desmosomal protein genes. Plakophilin-2 mutations accounted for 54% of the total and 58% of the desmosomal mutations, with a truncating mutation type making up about 2/3 of the plakophilin-2 mutations. Only four mutations were found in nondesmosomal genes; two in transmembrane protein 43 and two in transforming growth factor beta-3. Two of them (one of each gene) appeared as single missense mutations. No mutation was identified in desmin or Lamin A/C. Multiple mutations were found in 23% of the patients, with plakophilin-2 being found in 57% of the multi-mutation carriers. Conclusions Plakophilin-2 was the most common gene mutation that was identified in Chinese ARVC patients. Nondesmosomal genes should be added to desmosomal protein genes when performing molecular genetic screening in patients with suspected ARVC.  相似文献   

14.
Background  An echocardiographic right/left ventricular end-diastolic diameter ratio (RV/LV ratio) ≥0.9 is an independent predictor of poor prognosis in patients with acute pulmonary embolism. Right ventricular dilation is a common characteristic of both acute pulmonary embolism and idiopathic pulmonary arterial hypertension (IPAH). However, the prognostic value of the RV/LV ratio in patients with IPAH is unknown.
Methods  Ninety-five consecutive patients with newly diagnosed IPAH were included, 17 were re-evaluated by echocardiography after 3–12 months of targeted therapy. Follow-up data were obtained by telephone interviews and review of the patients’ records.
Results  Higher RV/LV ratios were associated with greater functional impairment. The RV/LV ratio was positively correlated with pulmonary vascular resistance (r=0.549, P <0.001) and plasma N-terminal pro-brain natriuretic peptide level (r=0.575, P <0.001), but negatively correlated with cardiac output (r= –0.517, P <0.001) and mixed venous oxygen saturation (r= –0.599, P <0.001). Twenty-seven patients died during follow-up period. Sensitivity and specificity of an RV/LV ratio ≥0.84 for predicting death were 85.2% and 51.5%, respectively. The RV/LV ratio and body mass index were independent predictors of death by multivariate Cox analysis (P <0.01). A baseline RV/LV ratio ≥0.84 or a further increase in the RV/LV ratio during targeted therapy indicated a poor prognosis (P <0.01).  
Conclusion  The RV/LV ratio helps to assess the severity of IPAH and may serve as an independent predictor of prognosis in patients with IPAH.
  相似文献   

15.
摘 要: 【目的】 总结致心律失常性右室发育不良/心肌病(ARVD/C)的临床特征,分析其相应心脏磁共振成像(CMR)上心肌组织特征?右心室形态学和功能改变,探讨CMR在ARVD/C诊断中的应用价值? 【方法】 回顾性收集?分析已确诊ARVD/C且行CMR检查患者的临床资料?所有患者CMR图像由两名医师进行心脏容积和功能等定量评价,同时进行心室壁组织特性?形态学特征及心室壁运动的定性评估?定量测量指标包括右心室舒张末容积(RVEDV)?右心室收缩末容积(RVESV)?右心室每搏输出量(RVSV)及右心室射血分数(RVEF),其中RVEDV指标经体表面积(BSA)校正,获得右心室舒张末容积指数(RVEDVI)?定性评估包括脂肪浸润?“手风琴征”?延迟强化及心室壁运动等?【结果】共35例患者确诊为ARVD/C且行CMR检查,其中男22例(62.9%),女13例(37.1%),平均年龄(32.0 ± 11.8)岁,年龄范围(15 ~ 57)岁?常见的症状依次分别为心悸25例(71.4%)?胸闷10例(28.6%)和晕厥6例(17.1%)?所有患者均有室性心律失常?图像定量评估指标(RVEDV?RVEF)的观察者间一致性良好(组内相关系数为0.996-0.999, P < 0.001)?CMR评估RVEF为(33.51 ± 13.19)%,RVEDVI为(174.74 ± 64.36)mL/m2?依据2010年修订的ARVD/C诊断标准中CMR的定量参数分析显示:其中RVEDVI符合主要标准的为24例(88.9%),符合次要标准的为3例(11.1%); RVEF符合主要标准的为20例(57.1%),符合次要标准的为8例(22.9%)?21例(60.0%)可见脂肪浸润;19例(54.3%)出现“手风琴征”;29例(82.9%)CMR显示心室壁延迟强化,其中18例(51.4%)可及左心室壁延迟强化;28例(80.0%)出现室壁运动异常?【结论】 CMR可以全面评价ARVD/C患者心脏的解剖形态?心肌的组织学特性以及心室壁的运动情况,并准确评估右心室的功能,可在ARVD/C诊断中提供相应的信息,是ARVD/C诊断标准中的重要组成部分?  相似文献   

16.
目的探讨检测线粒体DNA D-LOOP高变区基因突变对于肺腺癌诊断的参考价值。方法选取肺腺癌患者31例,分别提取血浆和癌组织DNA,用聚合酶链反应扩增血浆和癌组织线粒体DNA的D环HVR1,然后用变性高效液相色谱法进行突变筛选。直接测序法测定D环HVR1序列,确定肺腺癌患者组织和血浆中的D环HVR1区的基因突变。结果与对照组相比,肺腺癌患者的血浆和癌组织DNA的扩增率有显著差异(P<0.05),D-LOOP高变区HVR1存在点突变。结论线粒体基因D环高变区HVR1在肺腺癌肿的突变在肺腺癌的诊断中可能有一定作用。  相似文献   

17.
目的探讨二甲双胍对心力衰竭(心衰)大鼠心功能的影响并对其可能的作用机制进行分析。方法利用阿霉素多次间断腹腔给药方法建立心力衰竭模型,分为二甲双胍治疗组15只、5-氨基咪唑-4-甲酰胺核糖核苷酸(5-amino-imidazole-4-carboxamide ribose nucleotides,AICAR)治疗组15只、生理盐水对照组15只,并设正常组10只,4周后分别观察左心室射血分数(left ventricular ejection fraction,LVEF)、血流动力学指标、血浆B-型脑钠肽值(B-type natriuretic peptide,BNP),并留取心肌组织进行免疫组织化学分析。结果与心衰盐水对照组比较,二甲双胍灌胃组、AICAR注射组4周后LVEF、左室收缩末压(left ventricular systolicpressure,LVSP)和左室内压最大变化速率(left ventricular maximum velocity of ascending and descending inintraventricular pressure,±dp/dtmax)均显著提高,同时左室舒张末压(left ventricular end-diastolic pressure,LVEDP)显著降低(P<0.05)。与正常对照组比较,所有的阿霉素腹腔注射大鼠血BNP含量明显升高(P<0.05)。心衰大鼠二甲双胍灌胃及AICAR注射4周后,与生理盐水对照组比较血BNP浓度明显降低(P<0.05)。心室肌细胞免疫组织化学结果示活化的腺苷激活的磷酸化酶-2(phosphorylation of AMP-activated protein kinase,P-AMPKα2)及内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)在二甲双胍及AICAR治疗组明显高表达(P<0.05),而二甲双胍和AICAR组之间差异无统计学意义。结论二甲双胍可明显抑制心衰大鼠心功能的恶化,这种作用可能和激活腺苷激活的磷酸化酶(AMPK)及后续的eNOS有关。  相似文献   

18.
【目的】研究parkin基因1、2号外显子突变与散发性早发帕金森病发病的关系。【方法】应用聚合酶链反应(PCR)、琼脂糖凝胶电泳和单链构象多态性(SSCP)方法检测52例散发性早发帕金森病病人外周血白细胞DNA的parkin基因1、2号外显子突变情况,并对SSCP有异常泳动外显子进行DNA测序。【结果】发现1例病人(1.9%)存在parkin基因2号外显子缺失,2例病人(3.8%)分别存在parkin基因1、2号外显子PCR产物SSCP发生泳动变位,测序发现1号外显子为杂合突变(T103C),2号外显子为纯合突变(G237C)。【结论】parkin基因1、2号外显子突变可能与部分散发性早发帕金森病发病有关。  相似文献   

19.
Right ventricular (RV) ischaemia complicates up to 50% of inferior myocardial infarctions (MIs), though isolated RV myocardial infarction (RVMI) is extremely rare. Although the RV shows good long term recovery, in the short term RV involvement portends a worse prognosis to uncomplicated inferior MI, with haemodynamic and electrophysiologic complications increasing in-hospital morbidity and mortality. Acute RV shock has an equally high mortality to left ventricular (LV) shock. Identification of RV involvement, particularly in the setting of hypotension, can help anticipate and prevent complications and has important management implications which are distinct from the management of patients presenting with LV infarction. Reperfusion therapy, particularly by primary percutaneous coronary intervention, hastens and enhances RV functional recovery that occurs to near normality in most patients. The diagnostic methods for RVMI are discussed, including clinical, electrocardiographic, and various imaging modalities as well as the RV pathophysiology that underpins the specifics of RVMI management.  相似文献   

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