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| 1 | Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn’s disease显示文摘AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes.RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls.CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD. | Judit Bene Lili Magyari Gábor Talián Katalin Komlósi Beáta Gasztonyi Beáta Tari gnes Várkonyi Gyula Mózsik Béla Melegh | 2006 | World Journal of Gastroenterology2006,12,34: | 6 |
| 2 | Risk for emerging bipolar disorder, variants, and symptoms in children with attention deficit hyperactivity disorder, now grown up显示文摘AIM: To determine the prevalence of bipolar disorder(BD) and sub-threshold symptoms in children with attention deficit hyperactivity disorder(ADHD) through 14 years' follow-up, when participants were between 21-24 years old.METHODS: First, we examined rates of BD type Ⅰ?and Ⅱ diagnoses in youth participating in the NIMH-funded Multimodal Treatment Study of ADHD(MTA). We used the diagnostic interview schedule for children(DISC), administered to both parents(DISC-P) and youth(DISCY). We compared the MTA study subjects with ADHD(n = 579) to a local normative comparison group(LNCG, n = 289) at 4 different assessment points: 6, 8, 12, and 14 years of follow-ups. To evaluate the bipolar variants, we compared total symptom counts(TSC) of DSM manic and hypomanic symptoms that were generated by DISC in ADHD and LNCG subjects. Then we sub-divided the TSC into pathognomonic manic(PM) and non-specific manic(NSM) symptoms. We compared the PM and NSM in ADHD and LNCG at each assessment point and over time. We also evaluated the irritability as category A2 manic symptom in both groups and over time. Finally, we studied the irritability symptom in correlation with PM and NSM in ADHD and LNCG subjects.RESULTS: DISC-generated BD diagnosis did not differ significantly in rates between ADHD(1.89%) and LNCG 1.38%). Interestingly, no participant met BD diagnosis more than once in the 4 assessment points in 14 years. However, on the symptom level, ADHD subjects reported significantly higher mean TSC scores: ADHD 3.0; LNCG 1.7; P < 0.001. ADHD status was associated with higher mean NSM: ADHD 2.0 vs LNCG 1.1; P < 0.0001. Also, ADHD subjects had higher PM symptoms than LNCG, with PM means over all time points of 1.3 ADHD; 0.9 LNCG; P = 0.0001. Examining both NSM and PM, ADHD status associated with greater NSM than PM. However, Over 14 years, the NSM symptoms declined and changed to PM over time(df 3, 2523; F = 20.1; P < 0.0001). Finally, Irritability(BD DSM criterion-A2) rates were significantly higher in ADHD than LNCG(χ2 = 122.2, P < 0.0001), but irritability was associated more strongly with NSM than PM(df 3, 2538; F = 43.2; P < 0.0001).CONCLUSION: Individuals with ADHD do not appear to be at significantly greater risk for developing BD, but do show higher rates of BD symptoms, especially NSM. The greater linkage of irritability to NSM than to PM suggests caution when making BD diagnoses based on irritability alone as one of 2(A-level) symptoms for BD diagnosis, particularly in view of its frequent presentation with other psychopathologies. | Ahmed Z Elmaadawi Peter S Jensen L Eugene Arnold Brooke SG Molina Lily Hechtman Howard B Abikoff Stephen P Hinshaw Jeffrey H Newcorn Laurence Lee Greenhill James M Swanson Cathryn A Galanter | 2015 | World Journal of Psychiatry2015,5,4: | 3 |
| 3 | IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis显示文摘AIM To investigate the association of seven single nucleotide polymorphisms(SNPs) of the IL23 R gene with the clinical picture of ulcerative colitis(UC). METHODS Genomic DNA samples of 131 patients (66 males, 65 females, mean age 55.4 ± 15.8 years) with Caucasian origin, diagnosed with UC were investigated. The diagnosis of UC was based on the established clinical, endoscopic, radiological, and histopathological guidelines. DNA was extracted from peripheral blood leukocytes by routine salting out method. Polymerase chain reaction and restriction fragment length polymorphism were used to identify the alleles of seven SNPs of IL23 R gene(rs11209026, rs10889677, rs1004819, rs2201841, rs7517847, rs10489629, rs7530511).RESULTS Four out of seven analyzed SNPs had statistically significant influence on the clinical picture of UC. Two SNPs were associated with greater colonic extension(rs2201841 P = 0.0084; rs10489629 P = 0.0405). For two of the SNPs, there was more frequently need for operations (rs2201841 P = 0.0348, OR = 8.0; rs10889677 P = 0.0347, OR = 8.0). The rs2201841 showed to be a risk factor for the development of iron deficiency (P = 0.0388, OR = 6.1837). For patients with the rs10889677, a therapy with azathioprine was more frequently necessary(P = 0.0116, OR = 6.1707). Patients with rs10489629 SNP had a lower risk for weight loss(P = 0.0169, OR = 0.3394). Carriers of the heterozygous variant had a higher risk for an extended disease (P = 0.0284). The rs7517847 showed a protective character leading to mild bowel movements. Three SNPs demonstrated no statistically significant influence on any examined clinical features of UC.CONCLUSION We demonstrated susceptible or protective character of the investigated IL23 R SNPs on the phenotype of UC, confirming the genetic association. | Sarah Fischer Erzsébet Kovesdi Lili Magyari Veronika Csongei Kinga Hadzsiev Béla Melegh Péter Hegyi Patrícia Sarlós | 2017 | World Journal of Gastroenterology2017,23,3: | 3 |
| 4 | No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn's disease and ulcerative colitis in Hungarian population samples显示文摘瞄准:当前的工作的目标细胞毒素的 T 淋巴细胞抗原是分析 +49A/G 的流行变体的在有 Crohn 的匈牙利病人的 4 基因(CTLA4 )?ˉs 疾病(CD ) 和 ulcerative (UC ) 。方法:有 CD 的 130 个无关的题目的一个总数并且 150 与 UC,和 170 匹配的控制是为单个核苷酸多型性(SNP ) 的 genotyped。遗传型被使用 PCR/RFLP 测试决定。结果:G 等位基因频率和 GG 遗传型的流行在 CD 组,是 38.1% 和 12.3%40.6% 和 18.6% 在 UC 病人,并且 37.4% 和 15.9% 在控制组分别地。结论:当前的学习的结果显示出 +49G SNP 的那辆马车在异质接合或不在匈牙利人口为 CD 或为 UC 在同型结合的形式授与风险任何一个。 | Lili Magyari Bernadett Faragó Judit Bene Katalin Horvatovich Lilla Lakner Márta Varga Mária Figler Beáta Gasztonyi Gyula Mózsik Béla Melegh | 2007 | World Journal of Gastroenterology2007,13,15: | 3 |
| 5 | Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients显示文摘AIM:To investigate the interaction of interleukin-23 receptor(IL23R)(rs1004819 and rs2201841),autophagy-related 16-like 1(ATG16L1)(rs2241880), caspase recruitment domain-containing protein 15 (CARD15)genes,and IBD5 locus in Crohn's disease(CD) patients. METHODS:A total of 315 unrelated subjects with CD and 314 healthy controls were genotyped.Interactions and specific genotype combinations of a total of eight variants were tested.The variants of IBD5locus(IGR2198a_1 rs11739135 and IGR2096a_1 rs12521868),CARD15(R702W rs2066845 and L1007fs rs2066847),ATG16L1(rs2241880)and IL23R (rs1004819,rs2201841)genes were genotyped by PCR-RFLP,the G908R(rs2066844)in CARD15 was determined by direct sequencing. RESULTS:The association of ATG16L1 T300A with CD was confirmed[P=0.004,odds ratio(OR)=1.69, 95%CI:1.19-2.41],and both IL23R variants were found to represent significant risk for the disease(P= 0.008,OR=2.05,95%CI:1.20-3.50 for rs1004819 AA;P<0.001,OR=2.97,95%CI:1.65-5.33 for rs2201841 CC).Logistic regression analysis of pairwise interaction of the inflammatory bowel disease (IBD)loci indicated that IL23R,ATG16L1,CARD15 and IBD5(IGR2198a_1)contribute independently to disease risk.We also analysed the specific combina- tions by pair of individual ATG16L1,IL23R rs1004819, rs2201841,IGR2198a_1,IGR2096a_1 and CARD15 genotypes for disease risk influence.In almost all cases,the combined risk of susceptibility pairs was higher in patients carrying two different risk-associated gene variants together than individuals with just one polymorphism.The highest OR was found for IL23R rs2201841 homozygous genotype with combination of positive CARD15 status(P<0.001,OR=9.15,95% CI:2.05-40.74). CONCLUSION:The present study suggests a cumulative effect of individual IBD susceptibility loci. | Veronika Csngei Luca Járomi EnikSáfrány Csilla Sipeky Lili Magyari Bernadett Faragó Judit Bene Noémi Polgár Lilla Lakner Patrícia Sarlós Márta Varga Béla Melegh | 2010 | World Journal of Gastroenterology2010,16,2: | 2 |
| 6 | The role of colposcopy andtypization of human papillomavirus in further diagnosticproceedings in patients with ASC-US cytological finding of theuterine cervix显示文摘 | Zivadinovi R Lili V Dordevi B | 2009 | Vojnosanit Pregl2009,66,8: | 1 |
| 7 | The temperature fuzzycontrol system of barley malt drying based on microcon-troller显示文摘 | Xiaoyang G Yang B Lili Z | 1977 | Automatica1977,12,3: | 1 |
| 8 | A molecular survey of Carnpylobacter jejuni and Campylobacter coli virulence and diversity显示文摘 | Ghorbanalizadgan M Bakhshi B Kazemnejad Lili A | 2014 | I- ran Biomed J2014,18,3: | 1 |
| 9 | Bicylindrical Coordinate Formulation for the Leakage Flow through the Minimal Clearance in a Rolling piston Compressor显示文摘 | Ferreira R T S Lilie D E B Gasche J L | 1992 | Proceeding of Purdue Compressor Technology Conference1992,,: | 1 |
| 10 | Lipid changes on hormone therapy and coronary heart disease events in the Heart and Estrogen/progestin Replacement Study (HERS)显示文摘 | Michael G Shlipak Lily A Chaput Eric Vittinghoff Feng Lin Vera Bittner Robert H Knopp Stephen B Hulley | 2003 | American Heart Journal2003,,5: | 1 |
| 11 | Regional or global WEEE recycling:where to go? 显示文摘 | LI Jinhui LOPEZ N B LIU Lili | 2013 | Waste Management2013,33,4: | 1 |
| 12 | Ash Deposition of a Spanish Anthracite:Effects of Include and Excluded Mineral Matter显示文摘 | Nigel R V Lily M B Wigley F | 2002 | Fuel2002,81,: | 1 |
| 13 | The Effects of Conflict,Trust,and Task Commitment on Project Team Performance显示文摘 | Porter T W Lily B S | 1996 | International Journal of Conflict Management1996,7,4: | 1 |
| 14 | Functional P53 protein in human pappillomavirus-positive cancer cells 显示文摘 | Lili S Caroline G | 1995 | Uncogene1995,10,5: | 1 |
| 15 | Adaptor protein controlled oligomerization activates the AAA+; protein ClpC显示文摘 | Kirstein J Schlothauer T Dougan D A Lilie H Tischendorf G Mogk A Bernd B Turgay K | 2006 | The EMBO Journal2006,25,7: | 1 |
| 16 | PAPR analysis and reduction in WPDM systems显示文摘 | Aicha A B LiLi T Jabara S B | 2004 | IEEE Control Communications and Signal Processing2004,,1: | 1 |
| 17 | Transmission schemes for multicarrier broad- cast and unicast hybrid systems显示文摘 | LI H X LIU B LILI H | 2008 | IEEE Transactions on Wireless Communications2008,7,11: | 1 |
| 18 | Management of Cervical Intraepithelial Neoplasia 2 in Adolescent and Young Women显示文摘 | FUCHS K WEITZEN S LILY WU B S | 2007 | J Pediatr Adolesc Gynecol2007,20,5: | 1 |
| 19 | The role of colposcopy and typization of human papillomavirus in further diagnostic proceedings in patients with ASC-US cytological finding of the uterine cervix显示文摘 | Zivadinovi(c) R Lili(c) V Dordevi(c) B | 2009 | Vojnosanit Pregl2009,66,8: | 1 |
| 20 | Ash deposition of a Spanish anthracite: effects of include and excluded mineral matter显示文摘 | Nigel V Russell Lily B Mendez Fraser Wigley | 2002 | Fuel2002,,81: | 1 |