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61.
Yang BZ Ding JH Zhou C Dimachkie MM Sweetman L Dasouki MJ Wilkinson J Roe CR 《Molecular genetics and metabolism》2000,69(3):259-262
A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G. 相似文献
62.
大鼠再生肝对二乙基亚硝胺启动作用的敏感性 总被引:2,自引:0,他引:2
目的比较再生肝和正常肝对二乙基亚硝胺(DEN)启动作用的敏感性。方法以2/3肝叶切除后8周末的大鼠为实验组,正常大鼠为对照组,作如下比较:肝重、常规组织学检查及3H-TdR掺入试验;用修改的Solt-Farber模型,通过对GGT阳性癌前病灶的体视学测量,观察肝脏对DEN的启动效应;在体内和体外(无血清原代培养肝细胞)经DEN攻击后,以核酸原位缺口标记方法观察肝细胞DNA的损伤程度。结果2/3肝叶切除后8周末的实验组肝脏的修复过程已完成,未见肝细胞继续增生的表现;经DEN攻击后,实验组肝癌前病灶在数密度和体积密度上都显著高于对照组;无论在体内或体外接受DEN攻击后,实验组肝细胞DNA的损伤程度都显著大于对照组。结论即使再生过程已经完成,再生肝仍比正常肝具有较高的致癌敏感性,这与再生肝肝细胞在DEN攻击后其DNA损伤较重相关。 相似文献
63.
大鼠脊髓损伤后NGF及其受体TrkA在运动神经元及神经胶质细胞表达的变化 总被引:5,自引:0,他引:5
为探讨脊髓损伤后运动神经元及神经胶质细胞内神经生长因子(NGF)及其高亲和力受体(TrkA)表达的变化,用改良Allen重击法损伤SCI组动物T12脊髓,按伤后存活时间再将动物分为脊髓损1 d组、2 d组和5 d组。各组动物的脊髓切片经ABC法免疫组织化学染色,用光镜观察TrkA及NGF在脊髓前角运动神经元表达的变化和胶质纤维酸性蛋白(GFAP)及NGF免疫反应阳性胶质细胞的反应性增生程度,并进行图像分析。结果显示:脊髓损伤后前角运动神经元TrkA及NGF的表达随脊髓损伤后动物存活时间的延长逐渐上调;脊髓白质和灰质内尤其是皮质脊髓束内GFAP及NGF阳性胶质细胞明显增生;与此同时,室管膜细胞内亦可见明显的NGF免疫反应产物。上述结果表明,脊髓损伤可刺激脊髓前角运动神经元表达TrkA及NGF,通过自分泌维持受损神经元的存活;损伤部位反应性增生的胶质细胞亦可产生NGF,通过旁分泌作用于脊髓前角运动神经元或皮质脊髓束的轴突末梢,以维持运动神经元的存活及促进皮质脊髓束的再生;适时补充外源性神经营养素或改变损伤局部的微环境将有利于受损脊髓的修复和再生。 相似文献
64.
Joseph F. Clark Zaza Khuchua Ernest Boehm Renée Ventura-Clapier 《Journal of muscle research and cell motility》1994,15(4):432-439
Summary Activity and role of creatine kinase associated with contractile proteins of vascular smooth muscle have been investigated using skinned guinea-pig carotid artery rings. Membrane solubilization was performed with the detergent Triton X-100. Creatine kinase activity, isoenzyme profile as well as mechanics were performed on the Triton skinned carotid artery rings. Total creatine kinase activity was 47.3±9.3 IU g1 ww and electrophoresis showed BB, MB, and MM isoforms (BB-CK being the predominant isoenzyme). One hour incubation with Triton X-100, produced predominantly BB-CK remaining with the myofibrils with some MB, representing 23% of the preskinned creatine activity. When relaxed carotid artery rings were exposed to pCa 9 in the presence of 250 M ADP, 0 ATP, and 12 mM phosphocreatine, tension was not significantly different from resting tension, but changing to pCa 4.5 caused the carotid artery rings to generate 49.5±4.5% of maximal tension. When a high-tension rigor state was achieved (250 M ADP, 0 ATP, 0 phosphocreatine, and pCa 9), the addition of 12 mM phosphocreatine effected significant relaxation. These observations implicate an endogenous form of creatine kinase, associated with the myofilaments, which is capable of producing enough ATP for submaximal tension generation and significant relaxation from rigor conditions. These results suggest co-localization of ATPase, MLCK, and creatine kinase on the contractile proteins of the carotid artery. Such an enzymic association may play a role in the energetic supply to the contractile apparatus of vascular smooth muscle.Recipient of INSERM/NIH Fogarty International Fellowship, TW01585-01. 相似文献
65.
Lei C Dongqing Z Yeqing S Oaks MK Lishan C Jianzhong J Jie Q Fang D Ningli L Xinghai H Daming R 《European journal of human genetics : EJHG》2005,13(7):823-828
Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is important for downregulation of T-cell activation, and CTLA-4 gene polymorphisms have been implicated as risk factors for rheumatoid arthritis (RA). Previous studies of the association between the +49 polymorphism of the CTLA-4 gene in RA have provided conflicting results. In order to determine association of the CTLA-4 gene with RA in Chinese Han population, we used denaturing gradient gel electrophoresis (DGGE) to genotype polymorphisms of four SNPs (MH30, +49, CT60 and JO31) of the CTLA-4 gene in 326 RA patients and 250 healthy controls. Furthermore, meta-analysis of all available studies relating +49 polymorphism to the risk of RA was performed to confirm the disease association. Among the SNPs examined, the genotype frequencies of CTLA-4 +49 and CT60 in RA patients differed significantly from controls (P=0.028 and 0.007). In addition, the distribution of four haplotypes constructed by these two SNPs was significantly different between patients and controls (chi(2)=10.58, d.f. =3, P=0.014). The meta-analysis also revealed that in both European and Asian populations, the CLTA-4 +49 G allele was associated with the risk of RA. These results suggested that the CTLA-4 gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in RA disease. 相似文献
66.
Miellot A Zhu R Diem S Boissier MC Herbelin A Bessis N 《European journal of immunology》2005,35(12):3704-3713
Invariant natural killer T (iNKT) cells are a unique lymphocyte subtype implicated in the regulation of autoimmunity and a good source of protective Th2 cytokines. Agonist alpha-galactosylceramide (alpha-GalCer) of iNKT cells exert a therapeutical effect in type 1 diabetes. We investigated whether iNKT activation with alpha-GalCer was protective in collagen-induced arthritis (CIA) in DBA/1 mice, a standard model of rheumatoid arthritis. Here, we have shown that in vivo iNKT cell function was altered in DBA/1 mice since stimulation with alpha-GalCer led to decreased IL-4 and IFN-gamma levels in sera, as compared with C57BL/6 mice. alpha-GalCer induced a clear-cut diminution of clinical and histological arthritides. An anti-IL-10 receptor antibody abrogated the protective effect of alpha-GalCer, suggesting a key role for IL-10 in the protection against CIA by activated iNKT cells. Confirming these data, disease protection conferred by alpha-GalCer correlated with the ability of LN CD4+ cells to secrete larger amounts of IL-10. These findings suggest that in CIA susceptibility to autoimmunity is associated with dysfunctions of iNKT cells. Our demonstration that iNKT cell activation by alpha-GalCer remains efficient in CIA-prone DBA/1 mice to provide protective IL-10 suggests that this could be used therapeutically to treat autoimmune arthritis. 相似文献
67.
68.
目的 比较周围神经端侧缝合与神经移植的效果。方法 选用体重 2 0 0~ 30 0gWistar大白鼠 ,左侧后肢腓总神经与胫神经端侧缝合 ,右侧腓总神经采用神经移植修复。结果 3个月后运动神经传导速度分别为2 9.6 8± 5 .34m/s、 30 .87± 6 .0m/s(P >0 .0 5 ) ,潜伏期 2 .1± 0 .1ms ,2 .0± 0 .1ms(P >0 .0 5 ) ,波幅 12 .5± 0 .6mV、13.9± 0 .5mV(P >0 .0 5 ) ,组织切片中 ,两组均可见大量神经纤维和髓鞘 ,有髓神经纤维计数分别为 75 7.2± 2 2 .31、775± 2 1.87(P >0 .0 5 )。结论 ①正常神经发出侧芽能通过端侧缝合口长入远端神经 ,使变性神经再神经化 ;②周围神经端侧缝合能取得与神经移植相近的结果。 相似文献
69.
Yu Jinbo Chen Xiaohong Wang Yaqiong Liu Zhonghua Shen Bo Teng Jie Zou Jianzhou Ding Xiaoqiang 《International urology and nephrology》2021,53(4):785-795
International Urology and Nephrology - It is unclear which time-points of intradialytic blood pressure (BP) best predict prognosis. Thus, it is important to assess the association between different... 相似文献
70.
Isabel M. A. Brüggenwirth Maureen J. M. Werner René Adam Wojciech G. Polak Vincent Karam Michael A. Heneghan Arianeb Mehrabi Jürgen L. Klempnauer Andreas Paul Darius F. Mirza Johann Pratschke Mauro Salizzoni Daniel Cherqui Michael Allison Olivier Soubrane Steven J. Staffa David Zurakowski Robert J. Porte Vincent E. de Meijer all the other contributing centers the European Liver Intestine Transplant Association 《Transplant international》2021,34(10):1928-1937
High-risk combinations of recipient and graft characteristics are poorly defined for liver retransplantation (reLT) in the current era. We aimed to develop a risk model for survival after reLT using data from the European Liver Transplantation Registry, followed by internal and external validation. From 2006 to 2016, 85 067 liver transplants were recorded, including 5581 reLTs (6.6%). The final model included seven predictors of graft survival: recipient age, model for end-stage liver disease score, indication for reLT, recipient hospitalization, time between primary liver transplantation and reLT, donor age, and cold ischemia time. By assigning points to each variable in proportion to their hazard ratio, a simplified risk score was created ranging 0–10. Low-risk (0–3), medium-risk (4–5), and high-risk (6–10) groups were identified with significantly different 5-year survival rates ranging 56.9% (95% CI 52.8–60.7%), 46.3% (95% CI 41.1–51.4%), and 32.1% (95% CI 23.5–41.0%), respectively (P < 0.001). External validation showed that the expected survival rates were closely aligned with the observed mortality probabilities. The Retransplantation Risk Score identifies high-risk combinations of recipient- and graft-related factors prognostic for long-term graft survival after reLT. This tool may serve as a guidance for clinical decision-making on liver acceptance for reLT. 相似文献