Lp-PLA2的检测在冠状动脉狭窄患者中的临床意义

目的探讨血浆脂蛋白相关性磷脂酶A2(LP-PLA2)水平与冠状动脉不同分支狭窄的关系,进一步分析LP-PLA2水平的检测在冠心病患者中的临床意义。方法本次研究共包括268例患者,根据经皮冠状动脉造影术(CAG)结果分组为,对照组(无狭窄),粥样硬化组(主要冠脉分支狭窄≤50%,≥20%),单支病变组(单支狭窄>50%),双支病变组(双支狭窄>50%)和三支病变组(三支或以上狭窄>50%)。采用横断面分析LP-PLA2以及高密度脂蛋白C(HDL-C)、低密度脂蛋白(LDL-C)、总胆固醇(CHOL)、甘油三酯(TG)、载脂蛋白B(ApoB)、载脂蛋白A1(ApoA1)、葡萄糖(GLU)、尿酸(BUA)等生化指标和患者基本情况与冠状动脉狭窄的关系。结果经单因素分析,与对照组比较冠心病传统因素高血压、GLU、HDL-C、ApoA1、BUA或从粥样硬化组,或从单支病变组、双支病变组、三支病变组开始与冠状动脉狭窄相关(P <0.05),而LP-PLA2从单支病变组开始与冠状动脉狭窄显著相关(P <0. 01);通过比较各组间LP-PLA2水平发现,随着冠状动脉病变支数增加Lp-PLA2显著增加(P<0.01),而双支病变组与三支病变组比较其值变化不明显(P>0.05);进一步多元回归分析发现,从单支病变开始LP-PLA2与冠状动脉狭窄独立相关,OR值1.013,95%CI(1.006,1.020),<0.01。结论从冠状动脉单支变化开始LP-PLA2显著增加,并且与冠状动脉狭窄独立相关,因此检测LP-PLA2对冠状动脉狭窄患者病情的评估有重要的临床意义。     

胃窦部病理改变的血液流变学研究

慢性萎缩性胃炎（简称ＣＡＧ）是一常见多发病。目前与胃癌的关系尚未定论。但重度腺体萎缩伴胃粘膜肠化及非典型增生做为癌前表现这一点已被许多学者公认。因此，本文对ＣＡＧ窦部病理改变者进行了血液流变性观察。     

Association of androgen receptor gene CAG and GGN repeat polymorphism with cryptorchidism: A meta‐analysis

Researches on association between variations in the androgen receptor (AR) gene repeat polymorphisms and cryptorchidism (CO) had conflicting results. The aim of this meta‐analysis was to analyse the potential effects of AR CAG and/or GGN repeat polymorphism on CO. Studies were independently appraised by two investigators on PubMed, Web of Science, EBSCO databases and Foreign Medical Retrieval System. Case–control studies with measurement of CAG and/or GGN repeat length were included. Weighted mean difference (WMD) and 95% confidence intervals (CIs) for the CAG or GGN repeat polymorphism and CO were calculated. Five reports were included in this analysis. Overall, no difference was identified between patients and fertile men in CAG repeat length. However, when the CO was divided into unilateral and bilateral, longer CAG repeat region was significantly associated with CO in bilateral group (WMD = 0.74; 95% CI, 0.01–1.47; p < .05). In addition, GGN lengths were significantly higher in patients compared with those in controls (WMD = 1.17; 95% CI, 0.28–2.06; p < .05). No obvious effect was found in the GGN length when compared unilateral or bilateral group with control respectively. The results in this meta‐analysis indicated that AR CAG and GGN repeat polymorphisms may be an important pathogenesis of CO.     

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ～90% and 10% of transmissions result in expansions and contractions of the CTG repeat, respectively. To date, the mechanisms of CTG repeat contraction remain poorly documented in DM1. In this report, we identified two new DM1 families with apparent contractions and no worsening of DM1 symptoms in two and three successive maternal transmissions. A new and unique CAG interruption was found in 5′ of the CTG expansion in one family, whereas multiple 5′ CCG interruptions were detected in the second family. We showed that these interruptions are associated with maternal intergenerational contractions and low somatic mosaicism in blood. By specific triplet‐prime PCR, we observed that CTG repeat changes (contractions/expansions) occur preferentially in 3′ of the interruptions for both families.     

亨廷顿病两家系临床及遗传学分析

目的：探讨CAG重复序列与亨廷顿病( HD)临床症状的关系,进一步评价CAG年龄产物( CAP)评分在临床中的实用性。方法收集2个中国汉族HD家系成员的临床资料,包括临床症状和体征、剑桥老年认知量表中文版( CAMCOG-C)、汉密尔顿抑郁量表,绘制遗传系谱图,对自愿者抽取外周静脉血行IT15基因检测,对CAG重复序列>35的成员计算CAP得分。结果两家系遗传系谱图符合常染色体显性遗传;两家系共6人进行基因检测,其中1人正常,5人HD基因异常扩增;按照HD诊断标准,5人中2人为临床症状期,3人为临床诊断前期,症状期患者具有典型HD三联征的临床特征,临床诊断前期的患者虽未达到临床发病诊断标准,但和正常人相比,存在轻微的运动、认知、行为、个性改变中的1种或多种表现。结论 HD在临床诊断发病前可能就有轻微的临床症状;CAG重复序列数越多提示发病越早,症状越重;CAP得分作为一个参数,结合了CAG重复序列数和年龄,对预测发病年龄、指导临床试验中受试者分组、更好地理解HD的自然病程具有重要意义。     

亨廷顿舞蹈病的临床特征及基因分析

目的研究亨廷顿舞蹈病(HD)患者的临床特征和遗传学特点,并探讨基因型和临床表型相关性。方法收集45个亨廷顿舞蹈病家系临床资料,并采用简易精神状态评价量表(MMSE)对HD患者及其家系成员的精神状态进行评分。使用聚合酶链式反应(PCR)扩增HTT基因1号外显子,再进行毛细管电泳片段分析。对取得的数据进行处理和分析。结果 HTT基因检测阳性[(CAG) n拷贝数大于39次]共56人,其中35人已发病,21人为症状前患者。患者平均发病年龄(39. 34±10. 93)岁。首发症状均为舞蹈样动作,部分患者伴有精神行为异常、认知功能障碍的组合形式同时出现。认知功能评估在不同病程组比较差异有统计学意义(P 0. 05)。发病年龄和HTT基因CAG病理拷贝数呈负相关(r=-0. 769,P=0. 000)。结论 HD是一种具有高度临床异质性和遗传异质性的神经变性疾病。发病年龄越早HTT基因CAG病理拷贝数越高,反之越低。患者认知功能与病程密切相关,病程越长,认知功能障碍越易产生。精神行为异常最常见的表现为易激惹。