过敏性紫癜合并中枢神经系统损害一例

患儿，男，11岁，入院4周前双下肢出现出血性皮疹，右侧膝关节肿痛，2周后出现腹痛、黑便，入院当天出现头痛，一过性视野缺损，后出现抽搐，表现为全身强直，双目斜视，意识丧失。入院查体：血压110／70mmHg（1mmHg=0．133kPa），体重30kg，体温正常，神志清醒，双下肢散在新鲜及陈旧性紫癜，脐周轻压痛，Babinski征右侧阳性。急诊头部CT示：左侧顶枕叶局限性低密度灶，见图1a（封三）。入院后实验室检查：尿蛋白（＋＋），粪潜血（＋＋＋）、RBC34～35个／HP。     

地塞米松对内毒素休克新生大鼠脑一氧化氮合成酶基因表达的调节

目的：探讨新生大鼠内毒素休克脑损伤时脑一氧化氮合成酶(NO6)三种亚型基因表达的变化及地塞米松(DEX)对其的调控作用。方法：在新生大鼠内毒素休克动物模型基础上，采用逆转录PCR及PCR技术，对脑组织中三型NOS mRNA及caspase—3 mRNA的表达进行半定量分析。结果：正常新生大鼠脑iNOS及eNOS mRNA无明显表达，nNOS mRNA、caspase—3 mRNA有一定程度表达。内毒素脂多糖(LPS)腹腔注射后2h，三种亚型NOS mRNA开始表达，于LPS6h达高峰，并持续至24h。caspase—3 mRNA于LPS腹腔注射后2h后表达逐渐增加，24h达高峰。DEX可抑制nNOS、iNOS及caspase—3 mRNA的表达，且以用药后2h最为明显，并持续至用药后24h。结论：内毒素休克脑损伤时，各型NOS均有表达，NO的产生是内毒素休克脑损伤时重要的病理生理机制之一。DEX通过抑制NOS、caspase—3 mRNA的表达部分实现其神经保护作用．     

伴有脆性X染色体的X连锁智力低下:一个遗传表现为由外观正常男性传递和女性携带者部分表达的家系

虽然智力低下有许多方面尚不清楚,但是具有巨睾丸和可遗传的脆性部位Xq27或q28的综合征已得到确认。从已报告的家系中,观察到其遗传方式符合X连锁隐性遗传的特征,但有一些女性杂合子部分表达。本文报告的一个大家系,有兄弟三人的三个女儿分别生育了伴有脆性X的智力低下的孩子。这兄弟三人在调查时已故去,对他们的19个后代进行了细胞遗传学的检查。材料和方法:通过对二个智力低下兄弟家系的遗传咨询,使我们对这个有许多智力低下患者的大家系进行了研究。     

新生大鼠内毒素休克时血清TNF-α和NO对心肌超微结构的影响(英文)

目的：观察新生大鼠内毒素休克时血清TNF-α和NO的动态变化以及与心肌细胞损害的关系,探讨地塞米松(DXM)对心肌的保护作用。方法：健康7 d Wistar大鼠17只,随机取9只作实验前基础值组,余108只随机分成对照组、休克组(LPS 5 mg/kg)及治疗组(LPS 5 mg/kg+DXM 5 mg/kg)。各组于注射LPS前(0 h)及注射后2,4,6,24 h分别断头取血并留取心脏组织。双抗夹心ELISA方法测定血清TNF-α浓度,硝酸盐还原酶法测定血清NO浓度,以透射电镜观察心肌超微结构改变。结果：①休克组TNF-α于注射LPS2 h达高峰,6 h后下 降到对照组水平。注射LPS 2 h后,DXM组TNF-α高于对照组(P<0.05),但明显低于休克组(P<0.05);注射LPS 4 h,DXM组TNF-α含量低于休克组(P<0.05),但与对照组差异无显著性(P>0.05)。LPS注射后6 h起,3组问TNF-α差异均无显著性(P>0.05)。②休克组血清NO从注射LPS 2 h起升高(P<0.01),24 h达高峰(P<0.01);从注射LPS 2 h起,DXM组血清NO均低于同时间点休克组(P<0.01)。③心肌超微结构改变:休克组于注射LPS 6 h心肌细胞少数线粒体有空泡变性,24 h出现心肌纤维断裂、大量线粒体空泡变性、坏死。而DXM组在注射LPS24 h仅少数线粒体有空泡变性,心肌纤维完整。结论：内毒素休克新生大鼠通过释放炎症介质损害心肌组织,DXM通过抑制炎症介质     

The expression of NF-κB and TGF-β1 in the injured kidneys of neonate rats with endotoxemia

Objective To investigate the mechanism of the kidney injure in the newborn rats with endotoxemia.Methods Eighty Wistar rats aged 7 days were randomly divided into 2 groups:control group (intraperitoneal injection of saline of 0.1 ml;n = 40),lipopolysaccharide(LPS) group(intraperitoneal injection of LPS of 5 mg/kg;n =40).The rats in either group were killed at 1 h,4 h,8 h and 12 hours after intraperitoneal injection,respectively.The expressions of NF-κB and TGF-β1 in the kidney were detected by using the immunohistochemical assay.Renal ultrastructural changes was observed with a CM100 Philips electron microscope.Results The NF-κB in control group had no expression.NF-κB in LPS group mainly expressed in the renal tubular epithelial cell,increased at 1 h after test and peaked at 8 h,and slightly descended at 12 h.The expression of TGF-β1 in control group was slight,and had not show significant difference from control group at 1 h,4 h and 8 h,but significantly higher than that in control group at 12 h.In LPS group,newborn rat renal glomerular basement membrane was complete,part epithelial cell foot processes were fused and renal tubules epithelial cell mild mitochondria vacuolization was found at 4 h.Renal glomeruli epithelial cell foot processes obvious confluenced,quantities of mesangial cells mitochondria vacuole,and renal tubules epithelial cell mitochondria expanded to bubbles at 12 h.Conclusion The NF-κB involves in the pathogenesis of kidney damage induced by endotoxemia,but TGF-β1 may help to repair the damaged kidney,and may repress the production of NF-κB.     

内毒素血症对新生鼠脑一氧化氮合酶表达的影响

目的　在脑的正常发育及一些病理条件下 ,一氧化氮合酶 (NOS)发挥一定作用 ,但不同亚型的NOS作用不同。该研究观察正常新生鼠脑以及内毒素血症时新生鼠脑 3种一氧化氮合酶 (NOS)亚型蛋白的表达 ,并探讨脂多糖 (LPS)和地塞米松 (DXM)对其表达的影响。方法　生后健康 7日龄Wistar大鼠 6 8只 ,随机分为对照组、内毒素血症组 (腹腔内注射E .coliLPS 5mg kg)及DXM组 (LPS 5mg kg +DXM 10mg kg) ,分别于用药后2 ,4 ,6 ,2 4h取脑进行NOS免疫组织化学染色。结果　正常对照组新生大鼠脑神经元型NOS(nNOS)明显表达 ,内皮型NOS(eNOS)微弱表达 ,诱导型NOS(iNOS)无表达。LPS腹腔注射后 4hnNOS表达开始增加 ;eNOS及iNOS表达于 6h开始增加 ,3者表达均于 2 4h时达高峰 ;3种NOS表达阳性细胞主要分布于脑皮质、海马、下丘脑、脑室旁核团、纹状体神经细胞。除此之外 ,nNOS在梨状皮质有较强表达 ,eNOS及iNOS在血管内皮细胞呈微弱表达。3种NOS亚型蛋白表达在DXM注射后 2～ 6h受到明显抑制 ,并持续至用药后 2 4h。结论　正常新生鼠脑表达nNOS及eNOS ,无iNOS表达 ;LPS诱导 3种NOS亚型的表达 ,其表达的部位及受诱导表达的程度亦不同 ,提示NOS在中枢神经系统的正常发育及LPS诱导的内毒素血症脑损伤发病中发挥一定作用 ,DXM具有神     

内毒素对新生大鼠肺组织金属基质蛋白酶2及其抑制因子2表达影响的研究

目的　探讨金属基质蛋白酶 2 (MMP 2 )和金属基质蛋白酶抑制因子 2 (TIMP 2 )蛋白及mRNA在内毒素 (LPS)致新生大鼠肺损伤中的作用。　方法　将新生 7日龄大鼠 88只随机分为八组 ,即生理盐水对照组 (对照组 ) ,LPS注射后 30min组 ,1h ,2h ,4h ,8h组 (每组 8只 ) ,16h组 (16只 ) ,2 4h组 (2 4只 ) ,其中 16h组死亡 8只 ,2 4h组死亡 17只。观察不同时间点存活大鼠肺组织大体、光镜和电镜下的病理改变 ,应用免疫组化和RT PCR方法分别检测肺组织MMP 2和TIMP 2蛋白及mRNA的表达改变。　结果　病理改变证实了新生大鼠肺出血的发生 ,对照组MMP 2mRNA和蛋白的表达相对值分别为 (0 .5 2 3± 0 .0 30 )和 (12 6 .2 0± 17.98) ;注射LPS后 4h和 8hMMP 2mR NA(0 .82 6± 0 .5 6 7)和MMP 2蛋白 (15 0 .77± 9.80 )表达达高峰 ,差异有显著性 (P <0 .0 1)。TIMP 2蛋白及mRNA的表达无明显改变。　结论　用LPS制备了新生大鼠肺出血的动物模型 ,肺组织MMP 2的降解作用明显增加 ,可能导致肺出血的发生。     

先天性肾积水与肾间质纤维化研究进展

先天性肾脏和尿路畸形(CAKUT)是引起儿童慢性肾脏病(CKD)的主要病因,先天性肾积水是CAKUT常见类型,通常在胎儿期通过超声检查被发现。严重的先天性肾积水会导致肾实质损伤及最终发生终末期肾病(ESRD)的不良后果。先天性肾积水的成因复杂,涉及多种基因的异常表达。人体组织标本及动物模型研究显示,氧化应激、慢性炎症及凋亡等机制导致肾小管萎缩及肾纤维化。通过蛋白质组学等先进的生物学技术,新的生物学标志物不断涌现,为早期诊断监测此类患儿的病情提供了有力手段。     

新生儿休克合并肾功衰竭时血浆内皮素的变化

新生儿休克合并肾功衰竭时血浆内皮素的变化中国医科大学第二临床学院（１１０００３）吴玉斌，韩玉昆解放军总医院（１００８５３）曾强，范英鲜内皮素（Ｅｎｄｏｔｈｅｌｉｎ，ＥＴ）主要由血管内皮细胞产生，是目前所知缩血管肽中最强的多肽。动物实验证明肾脏能产生Ｅ...     

The expression of NF-κB and TGF-β1 in the injured kidneys of neonate rats with endotoxemia

Objective To investigate the mechanism of the kidney injure in the newborn rats with endotoxemia.Methods Eighty Wistar rats aged 7 days were randomly divided into 2 groups:control group (intraperitoneal injection of saline of 0.1 ml;n = 40),lipopolysaccharide(LPS) group(intraperitoneal injection of LPS of 5 mg/kg;n =40).The rats in either group were killed at 1 h,4 h,8 h and 12 hours after intraperitoneal injection,respectively.The expressions of NF-κB and TGF-β1 in the kidney were detected by using the immunohistochemical assay.Renal ultrastructural changes was observed with a CM100 Philips electron microscope.Results The NF-κB in control group had no expression.NF-κB in LPS group mainly expressed in the renal tubular epithelial cell,increased at 1 h after test and peaked at 8 h,and slightly descended at 12 h.The expression of TGF-β1 in control group was slight,and had not show significant difference from control group at 1 h,4 h and 8 h,but significantly higher than that in control group at 12 h.In LPS group,newborn rat renal glomerular basement membrane was complete,part epithelial cell foot processes were fused and renal tubules epithelial cell mild mitochondria vacuolization was found at 4 h.Renal glomeruli epithelial cell foot processes obvious confluenced,quantities of mesangial cells mitochondria vacuole,and renal tubules epithelial cell mitochondria expanded to bubbles at 12 h.Conclusion The NF-κB involves in the pathogenesis of kidney damage induced by endotoxemia,but TGF-β1 may help to repair the damaged kidney,and may repress the production of NF-κB.