成人起病散发性下运动神经元病基因检测的相关研究

目的探讨成人散发起病的下运动神经元病(lower motor neuron disease,LMND)患者铜锌超氧化物歧化酶1(superoxide dismutase 1,SOD1)基因、运动神经元存活基因(survive motor neuron,SMN)及雄激素受体(androgen receptor,AR)基因对明确诊断疾病类型的作用。方法收集43例成人散发起病表现为LMND的患者取外周血提取基因组DNA,分别进行聚合酶链式反应(PCR)扩增SOD1基因外显子1-5,SMN基因外显子7及男性LMND患者AR基因外显子1,对产物进行高分辨熔解曲线分析、变性聚丙烯酰胺凝胶电泳分析及测序。结果在43例成年LMND患者中,未发现SOD1基因突变。2例男性患者有SMN1外显子7的纯合缺失,诊断为Ⅲ、Ⅳ型脊髓性肌萎缩(SMA)。在31例男性患者中发现3例AR基因外显子1的CAG三核苷酸重复序列数分别为49、50、52,可诊断肯尼迪病。结论对LMND患者进行SMN1基因外显子7及AR基因外显子1检测,可使部分散发或无明确家族史的患者明确诊断,并可对病情及预后进行评估。     

散发性肌萎缩侧索硬化单核苷酸多态位点质谱分型及疾病易患性关联分析

Objective Amyotrophic lateral sclerosis(ALS)is a progressive paralytic disorder resulting from the degeneration of upper and lower motor neurons.Sporadic ALS(SALS)accounm for majority of patients.ALS is a kind of complex disorder.There were several single nucleotide polymorphism (SNP)reported to be associated with SALS in recently published genome-wide association(GWA)study,but there are few data from Asia ALS population and no report focus on SNP which may associated with SALS of Chinese origin.Our study is to screen and add the SNPs related to the risks of SALs in Chinese.Methods Eighty-six individuals with SALS and 94 matched controls were recruited for our study and genomic DNA from blood samples was extracted.Genotypes were determined by a matrix assisted laser desorption/ionization time of flisht mass spectrometry based approach followed by association analysis. Results Individual genotype data for 8 SNPs,rs6700125,rs10260404, rs1942239,rs2279812,rs2405657,rs558889,rs6922711 and rs935 1470 in Chinese population showed no significant association with sporadic ALS.Combining genotype data from published GWA,rs1942239 gained in strength of allelic association(P value decreased to 9.07×10-5 from 1.48×10-4),and rs558889 deviated Hardy-Weinberg equilibrium at ALS case group which may be associated with susceptibility.Conclusions SNP rs1942239 and rs558889 may contribute to susceptibility of sporadic ALS in Chinese patient.The larger sample studies are warranted to confirm the association.     

咳嗽变异性哮喘吸入糖皮质激素的临床疗效观察

目的:研究咳嗽变异性哮喘患者吸入糖皮质激素后治疗的临床疗效。方法:治疗组96例,给予丙酸氟替卡松吸入气雾剂;对照组72例,不进行治疗。观察3个月后两组患者的情况。结果:试验组和对照组的疗效差异有统计学意义(χ2=4.33;P<0.05)。表明:试验组和对照组之间,对照组的临床疗效优于试验组,差异有统计学意义(P<0.05)。结论:咳嗽变异性哮喘吸入糖皮质激素治疗有效。     

壳聚糖-生物性活性载体对大鼠脑皮层损伤的修复作用

目的:将含碱性成纤维细胞生长因子(BFGF)和脑源性神经营养因子(BDNF)的壳聚糖植于大鼠脑皮层损伤区,观察移植物诱导脑细胞的迁移和促进神经纤维再生的作用,为临床探讨一种有效的促进损伤脑组织修复的方法。方法:在立体定位仪下剔除脑皮质,立即植入含BFGF和BDNF的壳聚糖。手术后2个月、4个月和6个月时HE染色和Sevier-munger改变法镀银显示神经纤维、Marchalls法显示胶质细胞。结果:含BFGF和BDNF的壳聚糖和周围组织紧密粘接,随大鼠存活时间延长,移植物内见到大量新生的血管和银染胶质细胞,银染神经纤维伸入移植物内最长达420μm。结论:含BFGF和BDNF的壳聚糖可以促进脑血管增生进入载体内,并诱导胶质细胞向载体内迁移和促进神经纤维再生。     

单侧咀嚼大鼠三叉神经节内P物质的表达研究

目的观察磨除单侧后牙造成单侧咀嚼的大鼠三叉神经节内P物质(substance P, SP)的表达,进一步探讨颞下颌关节紊乱病的发病机制。方法Wistar雄性大鼠30只,随机分为6组,包括3个实验组及相应的对照组,每组5只。实验组动物磨除右侧上、下颌磨牙,人为造成单侧咀嚼。双侧三叉神经节(trigeminal ganglia,TG)切片行SP免疫组织化学反应(SABC法)。光镜观察拍片,并用Image Pro Plus 5．1图像分析软件分别进行测定。结果与对照组比较,用SPSS10．0软件行统计分析。结果每一实验组咀嚼侧和非咀嚼侧TG内SP免疫阳性神经元百分比与各自对照组比较显著降低(P<0．01,P<0．05),其非咀嚼侧明显低于咀嚼侧(P<0．01,P<0．05)。结论三叉神经节内SP参与了单侧咀嚼引起的颞下颌关节紊乱病的病理过程,且两侧TG内SP释放量不同。     

二次分冠"抽屉"式拔除水平阻生齿临床效果评价

目的观察采用二次分冠“抽屉”式拔除法拔除阻生齿的临床效果。方法观察实验组60只阻生齿用二次分冠法拔除效果,与对照组60只阻生齿常规翻瓣法拔除比较。结果二次分冠法拔除阻生齿成功率为95%。实验组手术时间明显比对照组手术时间短(P<0.05)。两组患者局部肿胀、疼痛和张口受限程度存在显著性差异(P<0.05)。结论采用二次分冠法拔除阻生齿,手术简便,时间短,术后不良反应少。     

下鼻甲注射致视网膜中央动脉阻塞一例

下鼻甲注射药物导致视网膜血管痉挛或血栓引起视力障碍的病例曾有不少报道,近来笔者收治一例下鼻甲注射强的松龙导致视网膜中央动脉阻塞的患者,现报道如下。患者,男,40岁。因过敏性鼻炎用强的松龙1ml做右下鼻甲注射,注射后约2 min自诉右眼前发黑、视物不清。眼科查:右视力光感,     

Efficacy of preoperative intracavitary brachytherapy and surgery in patients with stage ⅠB2 and ⅡA bulky cervical cancer

Objective To analyze the outcomes of preoperative intracavitary brachytherapy plus sur-gery in patients with stage ⅠB2 and ⅡA bulky cervical cancer. Methods From January 2001 to January 2007, 77 patients with stage ⅠB2 and ⅡA bulky cervical cancer were included. The diameter of primary tumor was greater than 4 cm. Preoperative intracavitary brachytherapy with the total dose of 20-30 Gy (0.5 cm below the vaginal mucosa) was delivered by 2-3 fractions, one fraction per week. After an interval of 10-14 days, the efficacies of radiotherapy were evaluated and radical hysterectomy with pelvic lymphade-nectomy was performed. Then the treatment complications, clinicopathological characteristics, survival and recurrence were analyzed. Results The tumor shrinkage was observed in all the patients after intracavitary brachytherapy. The CR, PR and SD were 5% (4/77), 36% (28/77) and 58% (45/77), respectively. Radical hysterectomy was successfully performed in all patients. The complications of the combined therapy were mild and only 5 patients had grade Ⅱ or less hematological or gastrointestinal toxicities. The 5-year o-verall survival rate and pelvic recurrence rate were 83% and 12%, respectively. Conclusions Preoperative intracavitary brachytherapy of 20-30 Gy plus surgery is effective in the treatment of stage ⅠB2 and ⅡA bulky cervical cancer without increasing the treatment complications.     

高、低剂量率腔内放疗在宫颈癌治疗的比较

回顾性分析高剂量率 (HDR)和低剂量率 (LDR)腔内放射治疗宫颈癌。前者疗效低于后者(Ⅲ期明显 ) ,但与国际两种治疗方法比较 ,HDR组疗效与之相似 (Ⅱ期稍好 )。HDR组Ⅱ、Ⅲ级放射性直肠炎发生率明显低于LDR组 (P <0 .0 1 ) ,而放射性膀胱炎和直肠阴道瘘的发生率两组间无差别 (P >0 .0 5 )。两组Ⅱ、Ⅲ期患者中无癌存活 5年以上者宫旁A点吸收量比值 (HDR/LDR)为 0 .5 3～ 0 .5 5。此剂量率转换系数对指导临床实践有参考价值。