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51.
Cellular, animal and human studies support the involvement of aberrant NRG–ErbB signaling in the pathogenesis of schizophrenia. The aim of the present study was to examine whether genetic variation in the human ERBB4 gene is associated with susceptibility to schizophrenia. Two hundred and twenty-seven unrelated chronic inpatients with schizophrenia were enrolled in the study, and the genetic variation in the polymorphisms of the ERBB4 gene in the patients was compared with that of the control group, which consisted of 223 subjects free of psychiatric illness. The results showed that one coding-synonymous polymorphism (rs3748962, Val1065Val) was in genotypic (p = 0.0027) and allelic (p = 0.0007) association with schizophrenia. In comparison with subjects of the rs3748962-TT type, those of the rs3748962-CT and rs3748962-CC types were at 1.74- and 2.64-fold greater risk of schizophrenia (CT vs. TT: OR = 1.71 (95% CI = 1.15–2.53), p = 0.0014; CC vs. TT: OR = 2.64 (95% CI = 1.37–5.23), p = 0.0047), which supports the hypothesis of an additive model of transmission (p = 0.0006). Furthermore, the frequency of haplotype ATC of rs3791709–rs2289086–rs3748962 was found to be significantly higher in the patients with schizophrenia than in the controls (case vs. control = 36.0% vs. 24.4%, permutation p-value = 0.0002). The findings support the involvement of the ERBB4 gene in schizophrenia in Han Chinese. 相似文献
52.
Chia-Cheng Hung Yi-Ning Su Shu-Chin Chien Horng-Huei Liou Chih-Chuan Chen Pau-Chung Chen Chia-Jung Hsieh Chih-Ping Chen Wang-Tso Lee Win-Li Lin Chien-Nan Lee 《BMC medical genetics》2006,7(1):1-11
Background
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, TSC1 and TSC2, have been attributed to the development of TSC. More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the TSC1 and TSC2 genes have been reported.Methods
Mutational analysis of TSC1 and TSC2 genes was performed in 84 Taiwanese TSC families using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing.Results
Mutations were identified in a total of 64 (76 %) cases, including 9 TSC1 mutations (7 sporadic and 2 familial cases) and 55 TSC2 mutations (47 sporadic and 8 familial cases). Thirty-one of the 64 mutations found have not been described previously. The phenotype association is consistent with findings from other large studies, showing that disease resulting from mutations to TSC1 is less severe than disease due to TSC2 mutation.Conclusion
This study provides a representative picture of the distribution of mutations of the TSC1 and TSC2 genes in clinically ascertained TSC cases in the Taiwanese population. Although nearly half of the mutations identified were novel, the kinds and distribution of mutation were not different in this population compared to that seen in larger European and American studies. 相似文献53.
目的:评价Ⅰb-Ⅱb期宫颈癌于根治术前给予紫杉醇和顺铂新辅助化疗的疗效及安全性。方法:将130例Ⅰb-Ⅱb期巨块型宫颈癌患者(肿瘤直径>4cm)随机分为新辅助化疗组和对照组。新辅助化疗组术前作2~3周期(紫杉醇和顺铂方案)的静脉化疗,化疗后行宫颈癌根治术,有指征者常规补充化疗或放疗;对照组除不做术前化疗外,手术及术后其他治疗相同。结果:新辅助化疗组临床有效率(CR+PR+MR)95%,新辅助化疗组5a生存率和无瘤生存率分别为85.7%、80%,高于对照组60.0%、50.0%,P<0.01(u=6.668,4.819)。结论:新辅助化疗(紫杉醇和顺铂方案)可提高Ⅰb-Ⅱb期巨块型宫颈癌的手术成功率,延长患者的生存期。 相似文献
54.
55.
J. Y. Wang S. D. Shyur W. H. Wang Y. H. Liou C. G. J. Lin Y. J. Wu L. S. H. Wu 《Allergy》2009,64(7):1056-1060
Background: The interleukin 17A ( IL17A ) gene, located on chromosome 6p and linked to asthma phenotype, is a highly potential candidate gene conferring asthma susceptibility. The purpose of this study was to investigate the genetic association between single nucleotide polymorphisms (SNPs) of IL17A and asthma in Taiwanese children.
Methods: We selected and performed genotyping on nine SNPs that encompass the genomic region of IL17A in Taiwanese children with or without asthma. A total of 1939 subjects containing 1027 subjects in testing group and 931 subjects in validation group were recruited in this study.
Results: After Bonferroni correction, SNP rs8193036 was found to have a weak association ( P = 0.0074 × 9 = 0.066) in genotype frequency test. This association was confirmed by validation group. Logistic regression adjusted allergy comorbidity and gender showed a slightly weaker association.
Conclusions: The results indicated an independent role of IL17A promoter polymorphism rs8193036 in the association with pediatric asthma in Taiwanese population. 相似文献
Methods: We selected and performed genotyping on nine SNPs that encompass the genomic region of IL17A in Taiwanese children with or without asthma. A total of 1939 subjects containing 1027 subjects in testing group and 931 subjects in validation group were recruited in this study.
Results: After Bonferroni correction, SNP rs8193036 was found to have a weak association ( P = 0.0074 × 9 = 0.066) in genotype frequency test. This association was confirmed by validation group. Logistic regression adjusted allergy comorbidity and gender showed a slightly weaker association.
Conclusions: The results indicated an independent role of IL17A promoter polymorphism rs8193036 in the association with pediatric asthma in Taiwanese population. 相似文献
56.
David T. Hughes Darya A. Terekhova Linda Liou Carolyn J. Hovde Jason W. Sahl Arati V. Patankar Juan E. Gonzalez Thomas S. Edrington David A. Rasko Vanessa Sperandio 《Proceedings of the National Academy of Sciences of the United States of America》2010,107(21):9831-9836
The mammalian gastrointestinal (GI) tract is colonized by a complex consortium of bacterial species. Bacteria engage in chemical signaling to coordinate population-wide behavior. However, it is unclear if chemical sensing plays a role in establishing mammalian host–bacterial commensal relationships. Enterohemorrhagic Escherichia coli (EHEC) is a deadly human pathogen but is a member of the GI flora in cattle, its main reservoir. EHEC harbors SdiA, a regulator that senses acyl-homoserine lactones (AHLs) produced by other bacteria. Here, we show that SdiA is necessary for EHEC colonization of cattle and that AHLs are prominent within the bovine rumen but absent in other areas of the GI tract. We also assessed the rumen metagenome of heifers, and we show that it is dominated by Clostridia and/or Bacilli but also harbors Bacteroidetes. Of note, some members of the Bacteroidetes phyla have been previously reported to produce AHLs. SdiA-AHL chemical signaling aids EHEC in gauging these GI environments, and promotes adaptation to a commensal lifestyle. We show that chemical sensing in the mammalian GI tract determines the niche specificity for colonization by a commensal bacterium of its natural animal reservoir. Chemical sensing may be a general mechanism used by commensal bacteria to sense and adapt to their mammalian hosts. Additionally, because EHEC is largely prevalent in cattle herds, interference with SdiA-mediated cattle colonization is an exciting alternative to diminish contamination of meat products and cross-contamination of produce crops because of cattle shedding of this human pathogen. 相似文献
57.
Tung-Sheng Chen Shaw-Yih Liou Yen-Lin Chang 《International urology and nephrology》2010,42(2):465-470
Background
The purpose of this study was to evaluate two commercial hemodialyzers (F100 and P21) through the clearance of identified and unidentified uremic solutes. 相似文献58.
Chan HL Chou WS Chen SW Fang SC Liou CS Hwang YS 《Journal of medical engineering & technology》2005,29(5):227-234
Spectral analysis of heart rate variability provides a probe to assess the function of the sympathetic and parasympathetic nervous systems. Time-frequency analysis of heart rate variability is useful for investigating autonomic nervous function in patients with syncope or non-sustained ventricular tachycardia, or in anaesthesia, etc. In this paper, we developed an algorithm for continuous and online analysis of heart rate variability. The algorithm was simulated and evaluated in MATLAB, and implemented on the digital signal processor. The electrocardiogram signals from MIT/BIH arrhythmia database and one patient with syncope demonstrate the capability of the proposed method in the continuous and online analysis of heart rate variability. 相似文献
59.
Hart TC; Bowden DW; Bolyard J; Kula K; Hall K; Wright JT 《Human molecular genetics》1997,6(13):2279-2284
Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a
highly penetrant autosomal dominant trait that is characterized by variable
clinical expression. The principal clinical features include kinky/curly
hair in infancy, enamel hypoplasia, taurodontism, as well as increased
thickness and density of cranial bones. Possible genetic linkage has been
reported for TDO with the ABO blood group locus, but the gene defect
remains unknown. We have identified four multiplex families (n = 63, 39
affected, 24 unaffected) from North Carolina segregating TDO. We previously
have excluded a major locus for TDO in the ABO region for these families.
Utilizing a genome-wide search strategy, we obtained conclusive evidence
for linkage of the TDO syndrome locus to markers on chromosome 17q21
(D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic
heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7
cM chromosomal segment flanked by D17S932 and D17S941. This finding
represents the first step towards isolation and cloning of the TDO gene.
Identification of this gene has important implications for understanding
normal and abnormal craniofacial development of hair, teeth and bone.
相似文献
60.
Fu WM Chang TK Sun WZ Ling QD Peng HC Liou HC Lu DY Huang TF 《Neuroscience letters》2004,368(3):263-268
Injury to peripheral nerves may result in severe and intractable neuropathic pain. Many efforts have been focused on the elucidation of the mechanisms of neuropathic pain. It was found here that integrin plays an important role in the induction of neuropathic pain and treatment of disintegrin is able to attenuate neuropathic pain. The rats were induced hyperalgesia by tightly ligating the L5 spinal nerve and cut just distal to the ligature on one side. Mechanical and thermal stimuli were applied in the middle dermatome of the hind paw. Epidural administration of triflavin (TFV), an arginine-glycine-aspartic acid (RGD) containing disintegrin, inhibited hyperalgesia induced by either mechanical or thermal stimulation. Immunohistochemistry showed that the sprouting of sympathetic nerves into DRG by neuropathic surgery was markedly inhibited by TFV. Beta 1 integrin mRNA of L5 DRG increased immediately 1 day after tight ligation and cut of L5 spinal nerve. However, beta 1 integrin mRNA in uninjured L4 DRG increased later on Day 3 after surgery. On the other hand, alpha-CGRP precursor mRNA decreased in ipsilateral L5 DRG but increased in L4 DRG after neuropathic surgery. Immunohistochemistry shows that beta 3 integrins of L5 as well as L4 increased in response to neuropathic surgery and administration of triflavin antagonized the increasing action. These results suggest that there is interaction between injured and uninjured neurons and the induction of neuropathic pain is related to neuronal sprouting. Disintegrin is able to inhibit neuronal sprouting and the induction of hyperalgesia induced by peripheral nerve injury and may thus be a new category of drugs to be developed for the treatment of neuropathic pain. 相似文献