脑梗死超早期静脉溶栓治疗的疗效及相关因素分析

目的 通过回顾性调查研究探讨脑梗死患者的基线情况与其静脉溶栓早期疗效的关系,并提出相关的建议,为静脉溶栓治疗提供参考和依据。方法 以深圳市人民医院收治的249例急性脑梗死静脉溶栓治疗的患者为研究对象,收集患者基线资料,以NIHSS评分的差值作为结局变量将患者分为有效组和无效组,分析阿替普酶静脉溶栓早期的疗效及其影响因素。结果溶栓后1h有效62例(24.90%),溶栓后24h有效118例(47.39%),溶栓后第7天有效165例(66.27%)。溶栓1h有效组房颤史比例、溶栓前NIHSS评分明显均低于无效组(P0.05)。经Logistic回归分析发现,既往房颤史、溶栓前NIHSS评分是静脉溶栓1h后影响神经功能恢复的独立因素。溶栓24h后有效组发病至溶栓的时间(onset to treatment,OTT)、房颤史比例、溶栓前NIHSS评分、溶栓前血糖水平均低于无效组(P0.05),经Logistic回归分析,OTT、房颤史、溶栓前血糖水平、溶栓前NIHSS评分是静脉溶栓24h后影响神经功能恢复的独立因素。溶栓7d后有效组OTT、溶栓前NIHSS评分均低于无效组(P0.05),经Logistic回归分析,OTT、溶栓前NIHSS评分是静脉溶栓7d后影响神经功能恢复的独立因素。结论 阿替普酶静脉溶栓有效率随时间的推移逐渐升高。房颤史、溶栓前血糖水平、溶栓前NIHSS评分、OTT是阿替普酶静脉溶栓后早期神经功能改善的独立影响因素。     

发作性运动诱发性运动障碍一家系致病基因定位与突变分析

Objective To study the clinical characteristics and genetic cause of a Chinese family affected with paroxysmal kinesigenic dystonia(PKD).Methods The detailed clinical data and the blood samples of the affected patients with PKD and their relatives were collected.After genomic DNA was extracted from blood leukocytes,target linkage analysis Was performed using multiplex PCR by microsatellite marker's located in the reported critical region on chromosome 16.All exons and flanking regions of SCNN1G and ITGAL genes were amplified by PCR-sequence.Results In this three-generation 12 member family,5 individuals have been diagnosed as PKD.Target linkage analysis suggested the disease gene linked to chromosome 16.between D16S3396 and D16S3057 with two-point LOD score of 1.47 at recombination fraction(θ)=0.0.All affected individuals shared a common haplotype which co-segregated with the phenotype.Except for 8 reported SNPs,no pathologic sequence variants were found in candidate genes SCNN1G and ITGAL.Conclusions The studied family is genetically linked to the reported critical locus of PKD on chromosome 16.SCNN1G and ITGAL were ruled out as the causative genes for the studied pedigree.Further genetic analysis in this family may reveal new genetic cause responsible for PKD.     

遗传性痉挛性截瘫患者179例的临床与遗传学特点

目的 探讨我国遗传性痉挛性截瘫(HSP)患者的临床与遗传学特点.方法 对179例中国汉族人群HSP患者的临床资料和遗传学特点进行回顾性分析.结果 共收集78个家系114例患者和65例散发患者,家族史阳性率为54.5%,未发现遗传早现现象,部分家系存在外显不全.患者中男女比例为1.84:1,平均发病年龄(18.1±14.0)岁,平均病程(12.3±11.5)年;常染色体显性遗传(AD)-HSP患者的发病年龄[(19.7±14.0)岁]较常染色体隐性遗传(AR)-HSP者[(14.5±8.8)岁]大(t=2.196,P＜0.05),病程较AR-HSP者长[分别为(17.9±14.4)年和(8.0±5.8)年,t=4.404,P＜0.01].单纯型79例,复杂型100例;AD-HSP以单纯型为主,AR-HSP以复杂型为主,两者构成比差异有统计学意义(F=19.322,P＜0.01).患者多以双下肢僵硬、不灵活起病,最常见的体征为双下肢腱反射亢进、肌张力增高和病理征阳性,其次为踝阵挛(46.9%)、双下肢肌力下降(42.5%)、足部畸形(30.7%)等;AR-HSP患者共济失调、构音障碍、智能减退和足部畸形较AD-HSP多见,泌尿系统症状较AD-HSP少见(P＜0.05).65例患者行颅脑MRI检查,发现胼胝体发育不良13例(20.0%)、小脑萎缩9例(13.8%);45例患者行脊髓MRI检查,发现脊髓变细7例(15.6%).结论 本组HSP患者多于青少年期起病,男性多于女性.AD-HSP发病晚、病程长,以单纯型为主,更易出现泌尿系统症状;AR-HSP发病早、病程相对短,以复杂型多见,多伴有共济失调、构音障碍及智能减退,影像学改变以胼胝体发育不良多见;该病存在与性别相关的临床异质性,存在"女性保护"现象.     

发作性运动诱发性运动障碍一家系致病基因定位与突变分析

目的 探讨发作性运动诱发性运动障碍(PKD)家系临床特点,定位致病基因和检测突变.方法 对1个PKD家系的患者及其亲属进行临床资料分析,采集外周静脉血标本提取基因组DNA.选取16号染色体目前已报道位点内的微卫星标记,采用多重PCR技术对该家系进行连锁分析;普通PCR方法扩增候选基因SCNN1G和ITGAL外显子及毗邻序列,进行测序及家系共分离检测.结果 该家系3代12人,共5例患者.连锁分析提示当重组率(0)为0.0时在D16S3396和D16S3057处取得最大两点LOD值1.47,支持连锁.所有患者均携带完全相同的单体型并与疾病表型共分离.ITGAL、SCNN1G测序共发现8个序列变异,但均为已报道的单核苷酸多态(SNP),未发现家系共分离的致病性突变.结论 该PKD家系致病基因与位于16号染色体上已报道的PKD遗传位点连锁,进一步证明其为PKD的重要遗传位点;基本排除SCNN1G和ITGAL为该家系的致病基因,其致病基因有待进一步探索.     

不同病因急性脑梗死患者静脉溶栓治疗的疗效分析

目的 比较不同病因脑梗死患者静脉溶栓早期疗效及出血转化风险,为不同病因脑梗死静脉溶 栓治疗提供参考和依据。 方法 回顾性纳入2015年9月-2019年9月在深圳市人民医院神经内科住院接受rt-PA静脉溶栓的 连续性急性脑梗死患者,收集患者的基线资料,并根据中国缺血性卒中分型（Chinese Ischemic Stroke Subclassification,CISS）标准进行病因分组。临床有效定义为溶栓后较溶栓前NIHSS评分下降≥4分或 NI HSS评分降至0分。分析不同病因患者静脉溶栓后24 h和7 d的有效率及24 h出血转化的风险。 结果 共纳入283例患者,静脉溶栓后24 h有效例数共129例（4 5.58%）,其中穿支动脉疾病 （penetrating artery disease,PAD）组35例（63.64%）、大动脉粥样硬化型（large-artery atherosclerosis, LAA）组70例（54.69%）、病因不确定（undetermined etiology,UE）组10例（45.45%）、其他病因（other etiology,OE）组3例（23.08%）、心源性（cardiogenic stroke,CS）组11例（16.92%）。组间比较,PAD组有 效率明显高于UE组、OE组、CS组,P值分别为0.015、0.008、0.004;LAA组有效率明显高于UE组、OE组、 CS组,P值分别为0.032、0.011、0.009;UE组有效率明显高于OE组、CS组,P值分别为0.031、0.019。溶 栓7 d有效例数共193例（68.20%）,其中PAD组有效率明显高于CS组（72.73% vs 58.46%,P =0.009）。 溶栓7 d后≤55岁患者有效率明显高于≥80岁患者（76.11% vs 55.56%,P =0.013）。共有23例出现出 血转化（8.13%）,PAD组出血转化率（1.82%）明显低于LAA组、OE组、UE组、CS组,P值分别为0.025、 0.018、0.004、0.001;CS组出血转化率（18.46%）明显高于LAA组、OE组、UE组,P值分别为0.005、 0.012、0.021;≥80岁患者出血转化率明显高于≤55岁患者（14.81% vs 6.19%,P =0.002）和55～79岁 患者（14.81% vs 8.39%,P =0.006）。 结论 不同病因脑梗死患者早期溶栓有效率和出血转化风险有差异,穿支动脉疾病组溶栓早期有 效率较高,出血转化风险低;心源性组患者早期有效率较低,出血转化风险相对较高;患者越年轻, 溶栓效果越好,出血转化风险越小。     

发作性运动诱发性运动障碍一家系致病基因定位与突变分析

Objective To study the clinical characteristics and genetic cause of a Chinese family affected with paroxysmal kinesigenic dystonia(PKD).Methods The detailed clinical data and the blood samples of the affected patients with PKD and their relatives were collected.After genomic DNA was extracted from blood leukocytes,target linkage analysis Was performed using multiplex PCR by microsatellite marker's located in the reported critical region on chromosome 16.All exons and flanking regions of SCNN1G and ITGAL genes were amplified by PCR-sequence.Results In this three-generation 12 member family,5 individuals have been diagnosed as PKD.Target linkage analysis suggested the disease gene linked to chromosome 16.between D16S3396 and D16S3057 with two-point LOD score of 1.47 at recombination fraction(θ)=0.0.All affected individuals shared a common haplotype which co-segregated with the phenotype.Except for 8 reported SNPs,no pathologic sequence variants were found in candidate genes SCNN1G and ITGAL.Conclusions The studied family is genetically linked to the reported critical locus of PKD on chromosome 16.SCNN1G and ITGAL were ruled out as the causative genes for the studied pedigree.Further genetic analysis in this family may reveal new genetic cause responsible for PKD.