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991.
Oh S Yoon YW Jang GJ Ahn JB Hong Gp Gang Gh Gang MS Hong Yu Gee JH 《Journal of Korean medical science》2003,18(4):589-591
We report a case of ruptured mycotic aneurysm involving innominate artery requiring an urgent surgical treatment. A 62-yr-old woman presented with fever and dyspnea. Previously, she was diagnosed with colon cancer and received right hemicolectomy and one cycle of adjuvant chemotherapy. On echocardiogram, pericardial effusion was noted and emergency pericardiocentesis was performed. CT scan revealed aortic aneurysm involving ascending aorta and innominate artery, and thrombi surrounding those structures. Patch repair of the defect in the ascending aorta and ringed Goretex graft to bypass the innominate and ascending aorta were performed. We believe that this is the first case of ruptured mycotic aneurysm involving innominate artery. 相似文献
992.
抗人大肠癌单链抗体的构建、表达及其体内外生物学活性的检测 总被引:1,自引:2,他引:1
目的 将抗人大肠癌单克隆抗体ND-1(mAb)的VR和VL基因进行重组,构建和表达ND-1scFv,并对其在体内外的生物学活性进行检测。采用RT-PCR技术,从能够分泌mAb ND-1的鼠杂交瘤细胞中扩增VH和RL基因,通过重叠延伸拼接PCR在VH和VL基因间引入连接短肽,体外构构建ND-1scFv基因,并在大肠杆菌中表达。采用间接免疫荧光(IFA)EY IF工IMPG-1scFv的免疫学活性。用^99Tc^m标记ND-1scFv后,将偶联物给予荷瘤裸鼠,观察其在动物体内的显像及生物学分布。结果 SDS-PAGEW显示,重组蛋白Mr为30000,同预期结果一致。IFA及ELISA检测表明,ND-1scFv保留了与亲本抗体相近的免疫学活性,对表达相应抗原的靶细胞具有行异结合活性。体内放射免疫实验显示,^99Tc^m-ND-1scFv在荷瘤小鼠体内的生物学分布,呈明显的肿瘤积聚趋向,注入体内1h血中T/NT即在2.61。结论 获得免疫学活性良好的ND-1scFv,对荷瘤动物体内肿瘤的定位快速,准确,可望成为有效的肿瘤诊断和治疗的导向载体。 相似文献
993.
目的:通过对男性抢劫罪犯的人格特征,父母教养方式及二者之间的相关性的分析。探讨早期教育及家庭因素对人格发展的影响,从而为干预和预防犯罪提供依据。方法:使用“艾森克人格问卷”“父母养育方式问卷”对113名男性抢劫罪犯及97名正常男性进行对照分析。结果:EPQ显示抢劫罪犯的精神质与神经均高于对照组,而EMBU显示父母偏爱、拒绝,过度保护、处罚严厉等各因子分均明显高于对照组,而父母的惩罚、严厉、拒绝等与精神质、神经质呈显著负相关。结论,不正确的父母养育方式是人格偏差,以致于从事犯罪的危险因素。 相似文献
994.
995.
Renske Oegema George McGillivray Richard Leventer Anne‐Gaëlle Le Moing Nadia Bahi‐Buisson Angela Barnicoat Simone Mandelstam David Francis Fiona Francis Grazia M. S. Mancini Sanne Savelberg Gijs van Haaften Kshitij Mankad Maarten H. Lequin 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(4):627-637
996.
Megan E. Rech John M. McCarthy Chun‐An Chen Jane C. Edmond Veeral S. Shah Daniëlle G. M. Bosch Gerard T. Berry Linford Williams Suneeta Madan‐Khetarpal Dmitriy Niyazov Charles Shaw‐Smith Erin M. Kovar Philip J. Lupo Christian P. Schaaf 《American journal of medical genetics. Part A》2020,182(6):1426-1437
Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in‐frame deletions in the DNA‐binding domain (DBD), and 32 individuals with other types of variants including whole‐gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long‐term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype–phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants. 相似文献
997.
Dissemination of CTX-M-3 and CMY-2 beta-lactamases among clinical isolates of Escherichia coli in southern Taiwan 总被引:11,自引:0,他引:11 下载免费PDF全文
A total of 1,210 clinical isolates of Escherichia coli collected from a university hospital in southern Taiwan were screened for production of extended-spectrum beta-lactamases (ESBLs). Expression of classical ESBLs (resistant to extended-spectrum beta-lactam agents and susceptible to beta-lactam inhibitors) was inferred in 18 isolates by the phenotypic confirmatory test. These included 10 isolates producing CTX-M-3, 2 strains carrying SHV-12, 1 strain harboring SHV-5, 1 strain expressing TEM-10, and 4 strains producing unidentifiable ESBLs with a pI of 8.05, 8.0, or 7.4. Eighteen isolates that showed decreased susceptibilities to ceftazidime and/or cefotaxime, negative results for the confirmatory test, and high-level resistance to cefoxitin (MICs of >/=128 microg/ml) were also investigated. Five isolates were found to produce CMY-2 AmpC enzymes, one isolate carried both CTX-M-3 and CMY-2, and the remaining three and nine isolates expressed putative AmpC beta-lactamases with pIs of >9.0 and 8.9, respectively. Thus, together with the isolate producing CTX-M-3 and CMY-2, 19 (1.6%) isolates produced classical ESBLs. Pulsed-field gel electrophoresis revealed that all isolates carrying CTX-M-3 and/or CMY-2 were genetically unrelated, indicating that dissemination of resistance plasmids was responsible for the spread of these two enzymes among E. coli in this area. Among the 16 isolates expressing CTX-M-3 and/or CMY-2, 5 might have colonized outside the hospital environment. Our data indicate that CTX-M-3 and CMY-2, two beta-lactamases initially identified in Europe, have been disseminated to and are prevalent in Taiwan. 相似文献
998.
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients 总被引:5,自引:0,他引:5
Tazawa Y Kobayashi K Abukawa D Nagata I Maisawa S Sumazaki R Iizuka T Hosoda Y Okamoto M Murakami J Kaji S Tabata A Lu YB Sakamoto O Matsui A Kanzaki S Takada G Saheki T Iinuma K Ohura T 《Molecular genetics and metabolism》2004,83(3):213-219
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future. 相似文献
999.
To die or not to die for neurons in ischemia,traumatic brain injury and epilepsy: a review on the stress-activated signaling pathways and apoptotic pathways 总被引:22,自引:0,他引:22
After a severe episode of ischemia, traumatic brain injury (TBI) or epilepsy, it is typical to find necrotic cell death within the injury core. In addition, a substantial number of neurons in regions surrounding the injury core have been observed to die via the programmed cell death (PCD) pathways due to secondary effects derived from the various types of insults. Apart from the cell loss in the injury core, cell death in regions surrounding the injury core may also contribute to significant losses in neurological functions. In fact, it is the injured neurons in these regions around the injury core that treatments are targeting to preserve. In this review, we present our cumulated understanding of stress-activated signaling pathways and apoptotic pathways in the research areas of ischemic injury, TBI and epilepsy and that gathered from concerted research efforts in oncology and other diseases. However, it is obvious that our understanding of these pathways in the context of acute brain injury is at its infancy stage and merits further investigation. Hopefully, this added research effort will provide a more detailed knowledge from which better therapeutic strategies can be developed to treat these acute brain injuries. 相似文献
1000.
Critical role of multidrug efflux pump CmeABC in bile resistance and in vivo colonization of Campylobacter jejuni 下载免费PDF全文
CmeABC functions as a multidrug efflux pump contributing to the resistance of Campylobacter to a broad range of antimicrobials. In this study, we examined the role of CmeABC in bile resistance and its contribution to the adaptation of Campylobacter jejuni in the intestinal tract of the chicken, a natural host and a major reservoir for Campylobacter. Inactivation of cmeABC drastically decreased the resistance of Campylobacter to various bile salts. Addition of choleate (2 mM) in culture medium impaired the in vitro growth of the cmeABC mutants but had no effect on the growth of the wild-type strain. Bile concentration varied in the duodenum, jejunum, and cecum of chicken intestine, and the inhibitory effect of the intestinal extracts on the in vitro growth of Campylobacter was well correlated with the total bile concentration in the individual sections of chicken intestine. When inoculated into chickens, the wild-type strain colonized the birds as early as day 2 postinoculation with a density as high as 10(7) CFU/g of feces. In contrast, the cmeABC mutants failed to colonize any of the inoculated chickens throughout the study. The minimum infective dose for the cmeABC mutant was at least 2.6 x 10(4)-fold higher than that of the wild-type strain. Complementation of the cmeABC mutants with a wild-type cmeABC allele in trans fully restored the in vitro growth in bile-containing media and the in vivo colonization to the levels of the wild-type strain. Immunoblotting analysis indicated that CmeABC is expressed and immunogenic in chickens experimentally infected with C. jejuni. Together, these findings provide compelling evidence that CmeABC, by mediating resistance to bile salts in the intestinal tract, is required for successful colonization of C. jejuni in chickens. Inhibition of CmeABC function may not only control antibiotic resistance but also prevent the in vivo colonization of pathogenic Campylobacter. 相似文献