64层螺旋CT动态电影诊断心肌桥与冠状动脉造影的对比研究

目的:采用多排螺旋CT动态电影技术观测心肌桥及其下的壁冠状动脉在心动周期不同时相的变化,比较壁冠状动脉受压后狭窄率的变化与冠状动脉造影测值的差异,探索心肌桥的形态、位置、厚度与壁冠状动脉狭窄率的相关指标及其相对应的心功能变化,进一步评估心肌桥引起心脏突发事件的风险。材料与方法:回顾性分析2008.7-2011.12月我院8942例64层螺旋CT冠状动脉CTA检查者中发现心肌桥病例630例,在行冠状动脉CTA前后一月内行冠状动脉造影者70例对照,采用多排螺旋CT动态电影技术结合多平面重组技术、容积再现技术、最大密度投影技术观测心肌桥,比较动态电影技术与冠状动脉造影技术测值的差异;结合Philips Brilliance心功能分析软件计算心功能的变化。结果:64层螺旋CT动态电影技术诊断心肌侨及壁冠状动脉与冠状动脉造影具有高度一致性,且动态电影技术检出率明显高于冠状动脉造影(p<0.05);卡方检验显示差别有统计学意义(P=0.00),心肌桥的存在对射血分数及左室容积并无明显影响(p>0.05)。结论:CT动态电影技术为临床估测心肌桥的风险提供了可靠的影像学方法:     

中药萎胃康逆转慢性萎缩性胃炎的机制研究

目的探讨中药萎胃康逆转慢性萎缩性胃炎（CAG）的机制。方法采用多重刺激法复制慢性萎缩性胃炎动物模型,分别应用大、小剂量萎胃康及三九胃泰灌胃治疗。30 d后观察大鼠胃酸、血清胃泌素（GAS）含量及免疫组化法观察G细胞数量,光镜下观察胃黏膜病理学改变。结果萎胃康大、小剂量组及三九胃泰组均能不同程度的升高胃酸、血清GAS含量和增加G细胞数量,以萎胃康大剂量组最为明显（P〈0.01）。结论中药萎胃康对CAG的疗效机制可能与升高胃酸、血清GAS含量和增加G细胞数量有关。     

多层螺旋CT在冠心病的临床诊断中应用价值分析

目的探讨多层螺旋CT诊断冠心病的临床效果。方法 83例冠心病患者被分别给予多层螺旋CT（MSCT）和选择性冠状动脉造影（CAG）检查,并分析MSCT的临床诊断效果。结果 MSCT对冠状动脉近端和中端诊断效果较好,而远端则相对较差。结论虽然多层螺旋CT在现阶段尚有不足,但其具有不可忽视的优势,因此,依然是一种值得我们考虑和选择的诊断技术。     

Huntington舞蹈症的IT15基因诊断

为了对Huntington舞蹈症进行早期准确的基因诊断,作者应用聚合酶链反应直接检测IT15基因CAG三核苷酸重复序列,对武汉某Huntington舞蹈症(HD)家系两代11名家庭成员进行了基因诊断.PCR产物的取丙烯酰胺凝胶电脉结果显示5例HD高风险者有4例携带异常HD基因.     

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

The advent of the direct mutation test for Huntington disease (HD) has made it possible to identify a previously unrecognized symptomatic population of HD, including those with an atypical presentation or patients without a family history of HD. The present study investigated the uptake of this test in the province of British Columbia (BC), Canada and assessed the incidence rate and rate of identification of new mutations for HD. All symptomatic individuals residing in BC who were referred for the genetic test for HD between 1993 and 2000 (n=205) were analyzed for CAG expansion, baseline demographics and clinical data, and a family history of HD. A total of 141 (or 68.8%) had a CAG expansion > or =36. Of these, almost one-quarter (24.1%) did not have a family history of HD. An extensive chart review revealed that 11 patients (or 7.8%) had reliable information on both parents (who lived well into old age) and therefore possibly could represent new mutations for HD. This indicates a three to four times higher new mutation rate than previously reported. Our findings also show that the yearly incidence rate for HD was 6.9 per million, which is two times higher than previous incidence studies performed prior to the identification of the HD mutation. We also identified five persons with a clinical presentation of HD but without CAG expansion (genocopies) (2.4%).     

颈动脉超声联合血清同型半胱氨酸在冠状动脉粥样硬化性心脏病诊断中的应用价值

目的:探讨颈动脉超声联合血清同型半胱氨酸(Hcy)在冠状动脉粥样硬化性心脏病(CAD)诊断中的应用价值。方法:选取161例经冠脉造影证实为CAD的患者为研究对象,作为观察组,另选取同期161例健康体检者为对照组,比较两组患者颈动脉超声结果、血清同型半胱氨酸(Hcy)水平的差异,分析与冠状动脉狭窄相关的危险因素。结果:观察组与对照组比较,颈动脉内-中膜厚度(IMT)分别为(1.25±0.19)mm∶(0.84±0.20)mm,Crouse斑块积分分别为(8.87±2.89)分、(3.86±1.44)分,血清Hcy水平分别为(17.59±2.82)μmol/L、(6.29±2.99)μmol/L),差异均具有统计学意义(P<0.05);观察组中冠状动脉中度狭窄、重狭窄、闭塞三个亚组比较,颈动脉内-中膜厚度(IMT)、Crouse斑块积分呈明显的递增趋势(P<0.05);而血清Hcy水平与CAD患者冠脉狭窄程度无相关性(P>0.05)。结论:颈动脉超声联合Hcy检测可以作为CAD的临床诊断筛查手段,同时颈动脉超声还能预判CAD冠脉的狭窄程度。     

CAG治疗急性巨核细胞白血病变为首发的慢性粒细胞白血病(首例报道及文献复习)

目的 探讨慢性粒细胞白血病急性巨核细胞白血病变后的表现和治疗方法.方法 报道1例以急性巨核细胞白血病为首发表现的慢性粒细胞白血病(CML),先后予以CAG方案和伊马替尼治疗.结果 该患者获得血液学及分子生物学缓解,且耐受良好.结论 极少数CML患者以急性巨核细胞白血病为首发表现,CAG方案、伊马替尼有较好疗效.     

地西他滨联合CAG方案治疗老年急性髓系白血病疗效观察

目的比较地西他滨联合CAG方案与标准IA方案治疗老年急性髓系白血病患者的临床疗效及安全性。方法 回顾性分析20例接受地西他滨联合CAG方案、23例接受IA方案治疗的初发老年AML患者的临床资料,分别比较两组患者的总反应率(ORR)、总生存率(OS)及不良反应发生率。结果 43例患者的ORR为58.14%,地西他滨联合CAG组及IA组的ORR分别为65%、52.2%,两组比较差异无统计学意义(P>0.05)。截至2015年8月31日,16例存活,25例死亡,2例失访,中位随访时间10(1～34)个月,2年OS率为11.63%,两组1年OS率分别为50%、39.13%,差异无统计学意义(P>0.05)。39例患者出现感染,25例有出血,两组患者在感染发生率、出血发生率差异无统计学意义。两组的红细胞输注量分别为5.35U、8.30U,单采血小板输注量分别为1.85U、3.48U,差异有统计学意义(P＜0.05)。结论 地西他滨联合CAG方案和IA方案治疗老年AML患者均有较好的疗效,地西他滨联合CAG方案CR率及OR率相对较高。两组治疗副反应相当,但地西他滨联合CAG组骨髓造血恢复较快。     

Identification of five Spinocerebellar Ataxia Type 2 pedigrees in patients with autosomal dominant cerebellar ataxia in Taiwan

OBJECTIVES: The autosomal dominant cerebellar ataxias (ADCAs) are a group of genetically diverse neurological conditions linked by progressive deterioration in balance and coordination. Spinocerebellar Ataxia Type 2 (SCA2) is one of the ADCAs and also belongs to a special group caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. We aimed to investigate the frequency of SCA2 mutation in the ataxia patients referred to the clinic. MATERIALS AND METHODS: We screened 58 families with inherent cerebellar ataxia and 57 normal individuals by the use of radioactive genomic polymerase chain reaction (PCR) method. A simple non-radioactive PCR for rapid detection of the expanded SCA2 alleles via agarose gel electrophoresis was also employed. RESULTS: Eight SCA2 affected patients and 1 at-risk individual in 5 unrelated SCA2 families were identified. The CAG repeats of normal alleles in the sample studied range in size from 16 to 30 repeat units, while those of SCA2 chromosomes are expanded to 34 to 49 repeat units. Our results also showed that unlike SCA 1 and SCA3/MJD, the size distribution of the normal alleles showed few polymorphisms, with the 22 repeat allele accounting for 90.1%. Homozygosity in normal individuals was 80.2%. No overlap in ataxin-2 allele size between normal and expanded chromosomes was observed. CONCLUSION: This is the first report of the SCA2 gene distributions in the population of Taiwan. The SCA2 mutation accounts for 8.6% of ADCA type I families referred to us, intermediate between SCA1(1.7%) and SCA3/MJD (24%) of the ADCA type I families in our collection.