一腓骨肌萎缩症家系临床及基因分析

目的分析一腓骨肌萎缩症家系的临床表现及不同基因检测方法的特点。方法收集一CMT家系8名成员临床资料,并应用等位基因特异性PCR-双酶切方法及多重连接依赖的探针扩增技术(MLPA)检测PMP22基因突变情况,同时选择60名性别、年龄无明显差异的健康人做为对照组。结果该家系中患病者以行走不稳、跨阈步态,伴有弓形足为主要临床表现。该家系中5名成员经等位基因特异性PCR-双酶切及MLPA方法均检测出PMP22基因重复序列,其中出现临床症状的有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),未出现临床症状但基因检测结果示PMP22基因重复序列的为携带者有1名(Ⅲ5),家系中余3名成员及对照组60名均未见重复序列。结论基因检测在明确CMT诊断中起重要作用,且MLPA法筛查基因时操作更简便、灵敏度更高、特异性更好。     

拆方研究补中益气汤中黄芪 甘草及全方的免疫调节作用

目的　检测补中益气汤中黄芪、甘草及全方对病态机体的免疫调节作用。方法　分 7组检测全方中黄芪、甘草及全方缺黄芪、缺甘草组方对利血平制备的脾虚小鼠的 5项非特异性免疫功能的影响进行研究。结果　黄芪能使Hb明显升高 ,单味甘草对某些免疫功能不起作用甚至起抑制作用 ,缺甘草组方作用低于全方 ,全方能明显提高机体免疫功能。结论　黄芪是方中主要升高Hb药物 ;方中甘草起到特殊的调节作用。     

Detection of cell apoptosis by MTT assay.]

OBJECTIVE: To study the feasibility of using MTT assay to detect cell apoptosis. METHODS: K562 cells were grown in RPMI 1640 medium supplemented with 10% calf serum and 4 micromol/L arsenic trioxide. Apoptosis was induced in the cultured cells by As2O3, and the cells were detected with optical microscope, DNA gel electrophoresis and MTT staining respectively. RESULT: MTT staining could also accurately detect cell apoptosis, by which the apoptotic cells were easily distinguished from normal cells and dead cells. CONCLUSION: MTT staining is simple, convenient and practical for detecting cell apoptosis.     

人胎盘基因表达谱芯片的初步研究

目的：制备人胎盘基因表达谱芯片，并用于基因差异表达分析。方法：用基因芯片点样仪将胎盘基因文库探讨打印在氨基包被的玻片上制备表达谱芯片。分别提取对照组与三氧化二砷处理的K562细胞总RNA，纯化mRNA后反转录成cDNA，再以限制性显示技术进行荧光标记，将两组荧光标记的样品混合后与芯片进行杂交，杂交后清洗芯片，干燥后对芯片进行扫描，分析杂交结果。结果：建立了较可靠的制备与检测基因表达谱芯片的方法，并筛选出45个差异表达基因片段，结论：制备的人胎盘基因表达谱芯片可有效地应用于基因的差异表达分析。     

窒息新生儿出生体重与血清同型半胱氨酸关系

目的探讨窒息新生儿出生体重对其血清中高同型半胱氨酸血症及低叶酸水平的关系。方法同期出生的新生儿分为正常组和窒息组,并分别分为正常体重及低体重组。应用酶联免疫吸附实验方法检测血清中Hcy水平。应用放射免疫法测定血中叶酸浓度。结果窒息组正常体重儿血清同型半胱氨酸为(10.50±2.19)μmol/L,低体重儿为(15.82±2.51)μmol/L,对照组正常体重儿血清同型半胱氨酸为(7.73±0.61)μmol/L,低体重儿为(7.45±0.43)μmol/L。在窒息组内低体重儿血清同型半胱氨酸水平明显高于正常体重儿(P<0.001),且窒息低体重组儿血清同型半胱氨酸水平明显高于正常对照组儿,不论其出生体重如何(P<0.001)。血清叶酸水平检测结果显示窒息组正常体重儿血清叶酸水平为(2.74±0.16)μg/L,低体重儿为(2.29±0.25)μg/L,对照组正常体重儿血清叶酸为(3.33±0.23)μg/L,低体重儿为(3.02±0.29)μg/L。窒息组患儿无论正常体重儿还是低体重儿其血清叶酸水平变化均不显著(P>0.05)。结论缺氧窒息合并低出生体重者血清同型半胱氨酸水平显著升高。     

Anatomical considerations of selective pudendal neurectomy

The pudendal nerve was examined in 100 cadavers of both sexes. Because of the variable number of trunks of the pudendal nerve, 5 types were distinguished: one-trunked; two-trunked, rectopudendal; two-trunked, pudendo-penile (or-clitoridal); three-trunked, recto-perineo-penile (or-clitoridal); four-trunked, recto-perineo-perineopenile (or-clitoridal). The authors' suggestions make it possible to perform selective pudendectomy, consisting in denervation of the sphincter urethrae muscle by neurectomy of the perineal branches of the pudendal nerve.     

γ射线照射对血小板活化的影响

目的:探讨γ射线照射对单采血小板保存过程中血小板活化的影响.方法:用细胞分离机单采血小板20人份,以27Gyy射线照射,标准条件下保存5天,间隔取样分别用RIA,ELISA方法检测血小板表面P-选择素(P-Selectin)、血浆中可溶性P-选择素(sP-Selectin)及β-血小板球蛋白(β-TG)含量.结果:在保存3d,5d后,照射组及对照组中血小板表面P-Selectin含量、血浆中sP-Selectin及β-TG含量与保存前比较差异显著(P＜0.05),但是两组间比较无统计学差异(P＞0.05),结论:γ射线照射不会促进血小板的活化.     

Effects of prolonged administration of neurotensin, arginine-vasopressin, NPY, and bombesin on blood TSH, T3 and T4 levels in the rat

Adult female rats were i.p. infused (Alzet osmotic minipumps) with neurotensin (NT, 2 micrograms/rat/day for 7 days), arginine-vasopressin (AVP, 2 micrograms/rat/day for 8 days), bombesin (BM, 0.75 microgram/rat/day for 7 days) or injected with neuropeptide Y (NPY, 0.5 microgram/rat twice a day for 4 days). NT infusion increased absolute and relative thyroid gland weight and decreased serum T4 level, while serum TSH and T3 levels remained unchanged. AVP treatment increased thyroid gland weight and serum TSH and T4 levels and a similar effect was induced by prolonged BM infusion. On the other hand, NPY administration had no effect either on thyroid gland weight or on serum TSH, T4 and T3 levels. Results of the present study thus clearly demonstrate a potent stimulatory action of AVP and BM on thyroid gland function and suggest that this effect is mediated by the pituitary gland. On the contrary, prolonged NT infusion decrease serum T4 level while NPY had no effect on thyroid gland function.