S-100蛋白和NSE在脑水肿患者脱水治疗中动态变化

目的 探讨脑水肿患者外周血S-100蛋白和神经元特异性烯醇化酶(NSE)在脱水治疗中的动态变化及临床意义.方法 对60例脑水肿患者给予甘露醇脱水治疗,在发病后24 h内,以及治疗第3、7、10、15天测定外周血S-100蛋白和NSE,并将二者的变化与神经功能缺损程度评分和脑水肿体积进行相关性分析.结果 脱水治疗第3、7天S-100蛋白和NSE水平高于发病后24 h(P<0.05),第15天低于发病后24 h(P<0.05);第7、10、15天S-100蛋白和NSE水平与神经功能缺损程度评分呈正相关(P<0.05);第15天S-100蛋白、NSE与脑水肿体积呈明显正相关(P<0.01);甘露醇联合七叶皂甙钠脱水治疗第15天S-100蛋白和NSE均显著低于单纯甘露醇治疗者(P<0.01).结论 脑出血患者血浆中S-100蛋白与NSE水平变化一定程度上可反应脑水肿情况和神经功能缺损程度,在治疗过程中检测S-100蛋白和NSE可作为评判脱水治疗效果及优化脱水治疗方案的指标.     

依达拉奉对中、重型颅脑外伤患者血清神经元特异性烯醇化酶和S100β蛋白浓度的影响

目的 探讨新型氧自由基清除剂依达拉奉对中、重型颅脑外伤患者血清神经元特异性烯醇化酶(neuron-specific enolase,NSE)和S100β蛋白浓度的影响.方法 选取中、重型颅脑外伤手术患者90例,将患者分为对照组(A组)、手术后应用依达拉奉组(B组)和手术前应用依达拉奉组(C组),各组30例,同时取门诊健康体检者20例作为健康对照组.采用ELISA法测定各组入院时以及手术后1,3,5,7 d外周静脉血血清NSE和S100β浓度.结果 A组、B组租C组患者血清NSE和S100β蛋白浓度在入院时及手术后1,3,5,7 d明显高于健康对照组,并在手术后第1天达高峰(P＜0.05).术后第1天,C组与对照组、A组、B组比较,血清NSE和S100β蛋白浓度降低(P＜0.05);A组与B组之间差异无统计学意义(P＞0.05).术后第3,5,7天,C组与A组比较,血清NSE和S100β蛋白浓度降低(P＜0.05);C组与B组比较,重型患者血清NSE和S100β蛋白浓度降低(P＜0.05),但中型患者血清NSE和S100β蛋白浓度差异无统计学意义(P＞0.05);B组与A组比较,血清NSE和S100β蛋白浓度降低(P＜0.05).结论 依达拉奉能有效降低中、重型颅脑外伤手术患者血清NSE和S100β蛋白浓度,越早使用降低越明显,特别是对于重型颅脑外伤手术患者,手术前应用依达拉奉能更有效地降低血清NSE和S100β蛋白浓度.

Abstract：

Objective To evaluate the effect of edaravone on moderate and severe brain injury patients by observing the change of the serum neuron-specific enolase ( NSE) and S100β protein. Methods A total of 90 patients with acute moderate and severe brain injury were selected and randomly divided into three groups, ie, control group (Group A), postoperative edaravone treatment group (Group B) and preoperative edaravone treatment group (Group C), 30 patients per group. In the meantime, 20 normal persons were set as the healthy control group. The concentrations of serum NSE and S100β protein of each group was measured by using the enzyme-linked immunosorbent assay ( ELISA) on admission and at days 1,3,5 and 7 after operation. Results The serum NSE and S100β protein levels in the Group A, B and C was higher than that in the healthy group on admission and at days 1,3,5 and 7 postoperatively and reached the peak at day 1 after operation (P ＜0.05). The level of serum NSE and S100β protein in the Group C was lower than that in the healthy group, Group A and Group B at day 1 postoperatively (P＜0.05), with no statistical difference between Group B and Group A at day 1 postoperatively (P ＞0.05). The serum NSE and S100β protein levels in the Group C was lower than that in the Group A at days 3, 5 and 7 postoperatively (P ＜0.05). The serum NSE and S100β protein levels in the Group C with severe brain injury was lower than that in the Group B at days 3, 5 and 7 postoperatively (P ＜ 0.05), but there was no statistical difference in moderate injury group between Croup C and Group B. The serum NSE and S100β levels in the Group B was lower than that in the Group A at days 3, 5 and 7 postoperatively ( P ＜ 0. 05). Conclusions Edaravone can effectively reduce the serum NSE and S100β levels in the moderate and severe brain injury patients after operation. The earlier use of edaravone may beget the more significant effect, especially in patients with severe brain injury. The application of edaravone before operation can more effectively reduce the concentration of serum NSE and S100β protein.     

脑外伤患者血浆NSE,ET-1的检测及其与近期预后的关系

目的:探讨NSESE和ET-1与脑外伤严重程度以及与近期预后的关系。方法:对48例脑外伤患者于伤后第1、3、7天分别采集静脉血3ml,同时选取我院健康体检者25例为对照组并采集静脉血3ml,用放免法检测NSE和ET-1水平,对所得资料进行统计学分析。结果:脑外伤患者血浆NSE、ET-1水平显著高于对照组(P<0.05)。脑外伤后不同时期的检测结果显示,重度脑外伤组的血浆NSE、ET-1水平明显高于轻中度脑外伤组(P<0.05)。预后不良组与对照组不同时间点测量的血浆ET-1数值不同,两组间有显著性差异(P<0.05)。预后不良组较预后良好组明显升高(P<0.05)。伤后1周内,二者的血浆水平均逐渐升高,颅脑损伤越重血浆ET-1浓度越高,NSE升高的程度相对较轻。脑外伤病人在外伤后迅速出现血清中NSE浓度的升高比ET-1升高的更早更加敏感。结论:血浆NSE、ET-1的检测可以协助诊断脑外伤,脑外伤后血浆NSE、ET-1水平升高幅度与脑外伤损伤程度、病程发展及近期预后密切相关。颅脑损伤越重患者血浆ET-1浓度越高,NSE升高的程度较轻;NSE比ET-1更早更敏感,ET-1比NSE更持久更特异。     

rr－烯醇化酶单克隆抗体双位点夹心ELISA的建立和临床应用

在自制的８株烯醇化酶（ＮＳＥ）ＭｃＡｂ中，经方阵排列滴定筛选出无交叉反应且效价较高的２株ＭｃＡｂ，用辣根过氧化物酶（ＨＲＰ）为标记物，建立了ＮＳＥ－ＭｃＡｂ双位点夹心ＥＬＩＳＡ。经直线回归方程、取代试验、阻断试验检验，该标准曲线近似直线关系，可测定标本中ＮＳＥ的范围为５～５０μｇ／Ｌ。对２３例小细胞肺癌（ＳＣＬＣ）（Ⅰ和Ⅱ期４例、Ⅲ期７例、Ⅳ期１２例）．３２例非小细胞肺癌（ＮＳＣＬＣ），２２例肺良性疾病（ＢＰＤ）和３６例健康体检者血清ＮＳＥ进行了测定，ＳＣＬＣ的阳性率为８２．６％（１９／２３），其中Ⅰ和Ⅱ期为５０％（２／４）；Ⅲ期为８５．７％（６／７），Ⅳ期为９１．７％（１１／１２）；ＮＳＣＬＣ的阳性率为３．１％（１／３２），ＢＰＤ阳性率为４．５％（１／２２）。ＳＣＬＣ的显著高于ＮＳＣＬＣ和ＢＰＤ（Ｐ＜０．０１）；ＳＣＬＣ的Ⅳ和Ⅲ期显著高于Ⅰ和Ⅱ期（Ｐ＜０．０１）。２３例ＳＣＬＣ经综合治疗后，完全缓解组和部份缓解组血清ＮＳＥ水平非常显著低于进展组和无改变组（Ｐ＜０．０１）。本文研究结果证明，ＮＳＥＭｃＡｂ双位点夹心ＥＬＩＳＡ具有灵敏、特异和简便快速的特点，对ＳＣＬＣ的血清学诊断有较高的灵敏度和特异性，对ＳＣ     

七氟烷预处理和右美托咪定对老年食管癌患者术后认知功能的影响

目的 比较七氟烷预处理和右美托咪定（DEX）对老年食管癌患者术后认知功能障碍（POCD）的影响,并探 讨其可能机制。方法 120例老年食管癌手术患者按随机数字表法分成对照组、七氟烷组、DEX组、DEX+七氟烷组, 每组30例。麻醉诱导前,对照组只给予吸氧,七氟烷组给予七氟烷预处理,DEX组给予DEX预处理,DEX+七氟烷组 给予七氟烷预处理的同时给予DEX预处理。测定4组入室后、插管后及拔管时的心率（HR）及平均动脉压（MAP）,术 后48 h视觉模拟评分法（VAS）评分及术后1、3、7 d的POCD发生率,检测入室后、拔管后及术后l、3、7 d血浆S100β蛋 白和神经元特异性烯醇化酶（NSE）的水平。结果 入室后、插管后及拔管时2种麻醉药物对HR、MAP的影响均无交 互作用（P＞0.05）;与对照组比较,七氟烷组仅插管后HR降低,DEX组及DEX+七氟烷组插管后及拔管时HR、MAP均 降低（P＜0.05）,七氟烷组术后48 h镇痛满意和疼痛明显患者比例差异均无统计学意义;与对照组、七氟烷组比较, DEX组和DEX+七氟烷组镇痛满意患者比例增加,而疼痛明显患者比例降低（P＜0.05）。与对照组比较,七氟烷组术 后1 d的POCD发生率降低,DEX组术后1、7 d的POCD发生率降低,DEX+七氟烷组术后1、3、7 d的POCD发生率均降 低（P＜0.05）。拔管后和术后1、3、7 d 2种麻醉药物对血清中S100β蛋白、NSE蛋白表达水平的影响无交互作用（P＞ 0.05）。与对照组比较,七氟烷组拔管后和术后1、3 d血清中S100β蛋白、NSE蛋白表达水平降低（P＜0.05）;DEX组拔 管后和术后1、3、7 d血清中S100β蛋白、NSE蛋白水平均降低（P＜0.05）。结论 七氟醚和DEX预处理均能抑制老年 食管癌手术患者术后血清中S100β蛋白、NSE蛋白水平的升高,从而降低POCD的发生率,DEX效果更好,但两药联用 效果并不理想。     

神经元特异性烯醇化酶和U266细胞株对破骨样细胞作用的研究

目的：探讨神经元特异性烯醇化酶（NSE）和人多发性骨髓瘤细胞U266对人破骨样细胞（OLC）功能的影响。方法采用正常人外周血单个核细胞加用细胞核因子κB受体激治蛋白配体（RANKL）＋巨噬细胞集落刺激因子（M‐CSF）的方法诱导培养OLC ;实验分3组,NSE组：将6孔培养板中培养14 d的OLC ,分别加入100 ng／mL重组人NSE培养24、48、72 h;共培养组：将6孔Transwell小室下室中培养14 d的OLC ,各上室分别加入1×105／孔U266细胞进行共培养24、48、72 h;对照组：单独培养的OLC。通过实时荧光定量PCR比较NSE和U266细胞株对OLC的RANKL、扩胃蛋白（OPG）、IL‐6和抗酒石酸酸性磷酸酶（TRAP） mRNA转录水平的影响。结果共培养组、NSE组和对照组RANKL、OPG、IL‐6 mRNA在OLC均不表达;与对照组相比,共培养组、NSE组的TRAP mRNA表达水平升高,差异有统计学意义（P＜0．01）;TRAP mRNA表达水平的升高尤其以48 h和72 h明显。结论本试验中OLC表达TRAP ,NSE是促进骨髓瘤骨病中OLC分化和成熟的因素,提示NSE能增强OLC的活性。     

Multidetector CT Characteristics of Fumarate Hydratase-Deficient Renal Cell Carcinoma and Papillary Type II Renal Cell Carcinoma

ObjectiveTo investigate the multidetector computed tomography (MDCT) features of fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) with germline or somatic mutations, and compare them with those of papillary type II RCC (pRCC type II).Materials and MethodsA total of 24 patients (mean ± standard deviation, 40.4 ± 14.7 years) with pathologically confirmed FH-deficient RCC (15 with germline and 9 with somatic mutations) and 54 patients (58.6 ± 12.6 years) with pRCC type II were enrolled. The MDCT features were retrospectively reviewed and compared between the two entities and mutation subgroups, and were correlated with the clinicopathological findings.ResultsAll the lesions were unilateral and single. Compared with pRCC type II, FH-deficient RCC was more prevalent among younger patients (40.4 ± 14.7 vs. 58.6 ± 12.6, p < 0.001) and tended to be larger (8.1 ± 4.1 vs. 5.4 ± 3.2, p = 0.002). Cystic solid patterns were more common in FH-deficient RCC (20/24 vs. 16/54, p < 0.001), with 16 of the 20 (80.0%) cystic solid tumors having showed typical polycystic and thin smooth walls and/or septa, with an eccentric solid component. Lymph node (16/24 vs. 16/54, p = 0.003) and distant (11/24 vs. 3/54, p < 0.001) metastases were more frequent in FH-deficient RCC. FH-deficient RCC and pRCC type II showed similar attenuation in the unenhanced phase. The attenuation in the corticomedullary phase (CMP) (76.3% ± 25.0% vs. 60.2 ± 23.6, p = 0.008) and nephrographic phase (NP) (87.7 ± 20.5, vs. 71.2 ± 23.9, p = 0.004), absolute enhancement in CMP (39.0 ± 24.8 vs. 27.1 ± 22.7, p = 0.001) and NP (50.5 ± 20.5 vs. 38.2 ± 21.9, p = 0.001), and relative enhancement ratio to the renal cortex in CMP (0.35 ± 0.26 vs. 0.24 ± 0.19, p = 0.001) and NP (0.43 ± 0.24 vs. 0.29 ± 0.19, p < 0.001) were significantly higher in FH-deficient RCC. No significant difference was found between the FH germline and somatic mutation subgroups in any of the parameters.ConclusionThe MDCT features of FH-deficient RCC were different from those of pRCC type II, whereas there was no statistical difference between the germline and somatic mutation subgroups. A kidney mass with a cystic solid pattern and metastatic tendency, especially in young patients, should be considered for FH-deficient RCC.     

Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion

We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old brother had severe expressive speech delay and delay in speech sound development with normal cognitive functions. The diagnosis was confirmed by a demonstration of 3-methylglutaconyl-CoA hydratase enzyme deficiency in the cultured skin fibroblasts and homozygous deletion of exons 1–3 within the AUH gene.     

血清神经元特异性烯醇化酶与急性脊髓损伤程度的相关性研究

目的 通过监测急性脊髓损伤患者血清神经元特异性烯醇化酶(NSE)含量的变化,探讨血清NSE与脊髓损伤程度间的关系. 方法 自2007年4月至2008年1月,用酶联免疫吸附法动态监测41例急性脊髓损伤患者血清NSE含量,其中男24例,女17例;年龄21～67岁,平均43.8岁.脊髓损伤部位:颈髓损伤7例,胸髓损伤13例,采髓损伤21例.对急性脊髓损伤患者伤后血清NSE水平与正常血清标本NSE进行比较,并与脊髓损伤程度进行相火性分析;对血清NSE与评价脊髓损伤程度的影像学指标(MRI和CT)进行比较. 结果正常血清标本NSE为(7.16±1.77)μg/L.急性脊髓损伤患者伤后第1、2、3、5、7天血清NSE分别为(7.77±1.77)、(15.04±10.37)、(22.77±8.58)、(20.55±8.39)、(7.48±2.11)μg/L,第2、3、5天血清NSE值与正常对照标本比较差异均有统计学意义(P<0.05).急性脊髓损伤患者伤后第1、2、3、5、7天血清NSE与急性脊髓损伤程度均呈相关(P<0.05).伤后第2、3天血清NSE与脊髓损伤程度的相关性高于MRI评分,伤后第2、3、5天血清NSE与脊髓损伤程度的相关性高于CT评分. 结论血清NSE水平与脊髓损伤程度呈正相关,对血清NSE的检测可反映脊髓损伤程度.     

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

Background

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus.

Objective

To measure the fumarate hydratase (FH) enzyme activity in lymphoblastoid cell lines and fibroblast cell lines of individuals with HLRCC and other familial renal cancer syndromes.

Methods

FH enzyme activity was determined in the whole cell, cytosolic, and mitochondrial fractions in 50 lymphoblastoid and 16 fibroblast cell lines including cell lines from individuals with HLRCC with 16 different mutations.

Results

Lymphoblastoid cell lines (n = 20) and fibroblast cell lines (n = 11) from individuals with HLRCC had lower FH enzyme activity than cells from normal controls (p<0.05). The enzyme activity in lymphoblastoid cell lines from three individuals with mutations in R190 was not significantly different from individuals with other missense mutations. The cytosolic and mitochondrial FH activity of cell lines from individuals with HLRCC was reduced compared with those from control cell lines (p<0.05). There was no significant difference in enzyme activity between control cell lines (n = 4) and cell lines from affected individuals with other hereditary renal cancer syndromes (n = 22).

Conclusions

FH enzyme activity testing provides a useful diagnostic method for confirmation of clinical diagnosis and screening of at‐risk family members.