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1.
A salt-dependent DNA polymerase activity was demonstrated in the culture of an EBV-producing, lymphoblastoid cell line (NPC-204 cells) treated with 5-iodo-2'-deoxyuridine (IUdR). There was a high frequency of levels of antibody to this enzyme in sera of patients with nasopharyngeal carcinoma (NPC). In contrast, sera from healthy subjects had little or no neutralizing activity. The high antibody level appeared as early as stage 1 of the disease in many NPC patients. The levels of the antibody increased with the progression of the disease and declined in treated patients. The results strongly suggest that tests measuring serum antibody against EBV DNA polymerase activity can be used for early diagnosis and prognosis of NPC.  相似文献   
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Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.  相似文献   
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Preclinical data indicated that seroquel (ICI 204 636), a dibenzothiazepine with 5-HT2 and D2-like receptor antagonistic properties, might be an effective antipsychotic agent, causing fewer extrapyramidal side effects than typical neuroleptics. In the present study, 12 patients suffering from schizophrenia or schizophreniform disorder with predominantly positive symptomatology were treated in an open clinical trial for 4 weeks with seroquel at a maximum dosage of 750 mg/day. The drug was generally well tolerated, and virtually no adverse extrapyramidal side effects such as acute dystonia, parkinsonism or akathisia were observed. Total scores for BPRS (item score 0–6; baseline: 42.0±2.3; mean±SeM), SAPS (64.5±4.8) and SANS (55.0±4.3) showed a moderate decrease at the end of treatment (BPRS: 30.0±3.5; SAPS: 36.1±6.7; SANS: 42.5±5.9), when intention-to-treat analysis was applied. There were considerable interindividual differences in treatment response, with some subjects showing almost full remission of positive symptoms, in contrast to about half of the patients who showed no satisfactory clinical improvement. Interestingly, patients showing good antipsychotic response reported slight initial side effects like mild sedation. Prolactin and TSH levels were not altered during seroquel administration. As to pharmaco-EEG investigations, seroquel caused a moderate increase of the absolute power in the alpha, theta, and beta frequency bands, paralleled by a decrease of delta activity. There were no signs of paroxysmal EEG activity under seroquel. Our results suggest that seroquel may be a well tolerated drug with some antipsychotic properties, exhibiting no extrapyramidal side effects that could be of use in the treatment of schizophrenic patients with positive symptomatology. Further double-blind studies with higher doses, in order to test presumably better efficacy, and with monitoring of plasma levels, are needed to extend the present results.  相似文献   
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目的:探讨miR-204在人视网膜母细胞瘤中的表达、临床意义及其分子机制。方法:实时定量PCR检测miR-204在视网膜母细胞瘤及瘤旁组织中的表达并分析其与临床病理特征的关系。检测miR-204在视网膜母细胞瘤细胞系中的表达,并用miR-204模拟物转染Y79细胞,MTT及流式细胞仪检测Y79细胞的增殖、凋亡情况,RT-PCR、Western blot法检测Bcl-2 mRNA、蛋白的表达。结果:miR-204在视网膜母细胞瘤组织中的表达水平显著低于对应瘤旁组织。miR-204低表达与神经浸润、分化程度密切相关。miR-204可显著抑制Y79细胞的增殖并促进其凋亡,下调Bcl-2 mRNA及蛋白表达水平。结论:miR-204在人视网膜母细胞瘤组织中表达下调,并与临床病理相关,miR-204抑制Y79细胞增殖、促进凋亡的作用可能与下调Bcl-2有关。  相似文献   
5.
目的探讨抑制miR-204表达对宫内发育迟缓(intrauterine growth restriction,IUGR)新生大鼠学习记忆能力的影响及机制。方法采用低蛋白饮食法建立IUGR大鼠模型,将3日龄IUGR幼鼠设为模型组、miRNA拮抗剂对照组(antagomir-NC组)和miR-204拮抗剂组(antagomir组),另取正常幼鼠设为对照组,每组10只。Morris水迷宫实验测定大鼠学习与记忆能力;qRT-PCR检测各组大鼠海马组织中miR-204和脑源性神经营养因子(brain-derived neurotrophic factor,BDNF)mRNA表达水平;尼氏染色、Tunel法观察海马组织尼氏小体数量和细胞凋亡水平;Western blot检测海马组织中BDNF/TrkB信号通路相关蛋白表达水平。结果与对照组比较,模型组大鼠逃避潜伏期增加,跨台次数减少;海马组织中细胞凋亡率和miR-204表达水平升高,而尼氏小体数量、BDNF mRNA,以及BDNF、p-TrkB和p-CREB蛋白表达水平降低(P<0.001)。抑制miR-204表达后,IUGR大鼠海马组织中尼氏小体数量、BDNF mRNA,以及BDNF、p-TrkB和p-CREB 蛋白表达水平升高,细胞凋亡率和miR-204表达水平降低,逃避潜伏期减少,跨台次数增加(P<0.001)。结论抑制miR-204可改善IUGR新生大鼠学习及记忆功能,其作用机制可能与靶向激活BDNF/TrkB信号通路有关。  相似文献   
6.
We describe a case of a 54-year-old woman who had a right cardiac mass found on coronary angiography. Echocardiography, computed tomography, and cardiac magnetic resonance imaging characterized it as a thrombosed giant right coronary artery aneurysm. This was confirmed on pathology. We present the role of multimodality cardiovascular imaging in the diagnosis and characterization of a giant coronary artery aneurysm.  相似文献   
7.
ObjectiveThe purpose of this study was to quantify the impact of a single lumbar spinal manipulation (SM) intervention on the leg movement performance of degenerative lumbar spinal stenosis (LSS) patients in a small-scale registered randomized clinical trial.MethodsParticipants with LSS (n = 14) were tested at baseline for pain, lumbar range of motion, and behavioral or kinematic motor performance (using an established Fitts’ Law foot-pointing task), then underwent covariate adaptive randomization to receive SM or no intervention. Postintervention all dependent measures were repeated. Experimenters were blinded to patient group allocation. University ethics board approval was attained.ResultsFor the primary outcome movement time, there was no significant difference between groups. As predicted by Fitts’ Law, all participants had longer movement times as task difficulty increased. Secondary kinematic outcomes yielded no significant between-group differences. Consistent with Fitts’ Law, kinematic measures changed significantly with task difficulty. Pairwise comparisons revealed the kinematic variables were more adversely affected by greater movement amplitudes than target size changes. No exploratory differences in pain or lumbar range of motion were observed.ConclusionChanges in motor performance were not observed in this chronic pain population after a single SM intervention compared with a control group. Given the sample size, the study may have been underpowered to detect meaningful differences. Fitts’ Law was observed for the lower extremity–pointing task for an LSS population and may provide an objective measure of motor performance.  相似文献   
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