bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of Interleukin 23 Receptor Gene with Sarcoidosis
Authors: Kim Hyun Soo , Choi Dongseok , Lim Lyndell L. , Allada Gopal , Smith Justine R. , Austin Carrie R. , Doyle Trudy M. , Goodwin Kelley A. , Rosenbaum James T. , Martin Tammy M. 
Published: June 2013

Interleukin 23 receptor (IL23R) gene has been reported as a genetic factor strongly associated with inflammatory bowel disease, psoriasis, and ankylosing spondylitis. We investigated the association betweenIL23Rgene single nucleotide polymorphisms (SNPs) and susceptibility to sarcoidosis, including the clinical manifestation of uveitis.Ninety-one sarcoidosis subjects (58 with and 33 without uveitis) and 104 healthy controls were genotyped for eleven IL23R SNPs. DNA was amplified using specific PCR primers and genotyped by denaturing HPLC and/or direct DNA sequencing. Case-control frequency comparisons were analyzed using Chi square test.ThreeIL23RSNPs, rs7517847 (intron 6), rs11465804 (intron 8), and rs11209026 (exon 9, c.1142G>A, p.Arg381Gln) were associated with sarcoidosis in our population (p< 0.05): rs7517847 showed increased frequencies in sarcoidosis compared to controls, but rs11465804 and rs11209026 were decreased. Two of these SNPs were associated with the uveitis subgroup compared to controls: rs11465804 (0.9% vs. 7.2%, OR = 0.11, P = 0.013) and rs11209026 (1.8% vs. 7.3%, OR = 0.23, P = 0.038).This finding indicates the association ofIL23Rpolymorphism with sarcoidosis, especially with sarcoid uveitis.IL23Rmay be a common susceptibility gene shared by several autoimmune disorders including inflammatory bowel disease, psoriasis, and ankylosing spondylitis and sarcoid uveitis.
α-Defensin 1-3 And α-Defensin 4 as Predictive Markers of Imatinib Resistance and Relapse in CML Patients
Authors: Etienne Gabriel , Dupouy Maryse , Costaglioli Patricia , Chollet Claudine , Lagarde Valérie , Pasquet Jean-Max , Reiffers Josy , Garbay Bertrand , Mahon François-Xavier , Turcq Béatrice 
Published: June 2013

Objective: Imatinib mesylate is a tyrosine kinase inhibitor used as first line treatment in chronic myeloid leukaemia. Despite a remarkable effectiveness, treatment failure cases have been reported in 20 percent of CML patients. The identification of biomarkers which can predict the response to imatinib is our point of interest.Methods: Gene expression profiling microarray was carried out on secondary imatinib resistant patients. Longitudinal studies were performed on imatinib treated responder/resistant patients. Then, Q-RT/PCR studies were realized on patients prior imatinib initiation.Results: For imatinib responder patients, we observed a strong and lasting decrease of α-defensin 1-3 and α-defensin 4 expression. For relapse patients, we observed a dramatic increase of α-defensin 1-3 and α-defensin 4 expression before BCR-ABL transcript increase. Moreover, before imatinib initiation, α-defensin 1-3 and α-defensin 4 expression was significantly lower in the resistant group than in the responder group.ConclusionThe variation of expression of α-defensin 1-3 and α-defensin 4 in peripheral blood is associated with imatinib resistance and may reflect an adequate immune control of the disease. Monitoring of α-defensin 1-3 and α-defensin 4 could be helpful to predict the patients who are not going to respond to the treatment.
Elevated Levels of miR-146a and miR-155 in Kidney Biopsy and Urine from Patients with IgA Nephropathy
Authors: Wang Gang , Kwan Bonnie Ching-Ha , Lai Fernand Mac-Moune , Chow Kai-Ming , Li Philip Kam-Tao , Szeto Cheuk-Chun 
Published: June 2013

Background: Previous studies suggested miR-146a and miR-155 play important roles in innate and adaptive immune responses. We studied intra-renal and urinary levels of miR-146a and miR-155 in patients with immunoglobulin A nephropathy (IgAN).Methods:Intra-renal and urinary levels of miR-146a and miR-155 are quantified in 43 patients with IgAN; the result was compared to 20 nephrectomy specimens and urine sediment of 13 healthy volunteers.Results: The levels of intra-renal and urinary levels of miR-146a and miR-155 of IgAN are significantly higher than controls. Estimated glomerular filtration rate inversely correlates with intra-renal level of miR-146a and miR-155; proteinuria positively correlates with intra-renal level of miR-146a and miR-155, as well as urinary level of miR-146a and miR-155. Intra-renal level of miR-155 significantly correlates with tubulointerstitial scarring. Urinary level of miR-146a inversely correlates with urinary expression of interleukin (IL)-1β, IL-6 and tumor necrosis factor (TNF)-α and positively correlates with urinary expression of regulated upon activation, normal T-cell expressed, and secreted (RANTES). Urinary level of miR-155 inversely correlates with urinary expression of IL-1βand TNF-α and positively correlates with urinary expression of forkhead box P3 (FOXP3) and RANTES.Conclusion:We conclude that intra-renal and urinary levels of miR-146a and miR-155 were significantly elevated in IgAN, and the degree of upregulation correlates with clinical and histological severity of the disease. Our results suggested miR-146a and miR-155 might play an important role in the pathophysiology of IgAN.
Potential Serological Biomarkers of Cerebral Malaria
Authors: Lucchi Naomi W. , Jain Vidhan , Wilson Nana O. , Singh Neeru , Udhayakumar Venkatachalam , Stiles Jonathan K. 
Published: June 2013

Biomarkers have been used to diagnose and prognosticate the progress and outcome of many chronic diseases such as neoplastic and non communicable diseases. However, only recently did the field of malaria research move in the direction of actively identifying biomarkers that can accurately discriminate the severe forms of malaria. Malaria continues to be a deadly disease, killing close to a million people (mostly children) every year. One life-threatening complication of malaria is cerebral malaria (CM). Studies carried out in Africa have demonstrated that even with the best treatment, as high as 15–30% of CM patients die and about 10–24% of CM survivors suffer short-or long-term neurological impairment. The transition from mild malaria to CM can be sudden and requires immediate intervention. Currently, there is no biological test available to confirm the diagnosis of CM and its complications. It is hoped that development of biomarkers to identify CM patients and potential risk for adverse outcomes would greatly enhance better intervention and clinical management to improve the outcomes. We review here what is currently known regarding biomarkers for CM outcomes.A Pub Med literature search was performed using the following search terms: “malaria,” “cerebral malaria,” “biomarkers,” “mortality” and “neurological sequelae.” This search revealed a paucity of usable biomarkers for CM management. We propose three main areas in which researchers can attempt to identify CM biomarkers: 1) early biomarkers, 2) diagnostic biomarkers and 3) prognostic biomarkers.
Combined Effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 Alleles on Alcoholism and Chronic Liver Diseases
Authors: Tóth Réka , Fiatal Szilvia , Petrovski Beáta , McKee Martin , Ádány Róza 
Published: June 2013

The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase polymorphisms (Arg48His and Arg370Cys in ADH1B, Arg272Gln and Ile350Val in ADH1C) on the alcohol use habits, alcohol dependence and chronic liver diseases in Hungary.The study included men, aged 45–64 years. Altogether, 241 cases with chronic liver disease (CLD) and 666 randomly selected controls without CLD were analysed for all four polymorphisms. Associations between the polymorphisms, individually, and in combination, and excessive and problem drinking and CLD, were assessed using logistic regression.In this study we have identified a novel mutation, called ADH1B Arg370His. The ADH1C Arg272Gln and Ile350Val showed almost complete linkage. The 272Gln/350Val allele increased the risk of excessive and problem drinking in homozygous form (OR = 1.582,p= 0.035, CI = 1.034–2.421, OR = 1.780,p= 0.016, CI = 1.113–2.848, respectively). The joint analysis showed that when combined with the wild type ADH1C Arg272/Ile350 allele, the ADH1B 48His is protective against CLD (OR = 0.368,p= 0.019, CI = 0.159–0.851).The results obtained in the study help not only to clarify the effects of different ADH SNPs but to better understand how these polymorphisms modify each other’s effects in the development of alcoholism and related diseases.
Platelet-Stored Angiogenesis Factors: Clinical Monitoring Is Prone to Artifacts
Authors: Starlinger Patrick , Alidzanovic Lejla , Schauer Dominic , Brugger Philipp , Sommerfeldt Silvia , Kuehrer Irene , Schoppmann Sebastian F. , Gnant Michael , Brostjan Christine 
Published: June 2013

Background:The analysis of angiogenesis factors in the blood of tumor patients has given diverse results on their prognostic or predictive value. Since mediators of angiogenesis are stored in platelets, their measurement in plasma is sensitive to inadvertent platelet activation during blood processing.Methods:Variants of blood withdrawal and plasma preparation were evaluated by ELISA for the detection of TSP-1, PF-4, VEGF and PD-ECGF. A total of 22 pancreatic cancer patients and 29 healthy volunteers were evaluated.Results:Plasma preparation with the anticoagulant mix of citrate, theophylline, adenosine, dipyridamole (CTAD) and immediate blood processing at 4°C was required for reproducible measurements of TSP-1, PF-4 and VEGF. Blood collection by venflon or inadvertent hemolysis during blood withdrawal caused significantly elevated TSP-1 and PF4 values. When optimized plasma preparation was applied, a significant increase of TSP-1 and VEGF in cancer patients was detected (P = 0.006; P < 0.001).Conclusion:The reliable plasma analysis of circulating platelet-stored angiogenesis factors requires preparation with CTAD at 4°C and blood collection by butterfly needle. Suboptimal procedures of plasma preparation are commonly applied in clinical monitoring of angiogenesis parameters which may account for the differences in reported plasma values and may have masked their predictive or prognostic marker potential.
HFE Gene Polymorphisms and the Risk for Autism in Egyptian Children and Impact on the Effect of Oxidative Stress
Authors: Gebril Ola H. , Meguid Nagwa A. 
Published: June 2013

Background: Autism is among the commonest neurodevelopmental childhood disorders worldwide; its aetiology is still unknown. Iron metabolism alteration in the central nervous system is recently implicated as a risk factor for several neurodegenerative disorders.Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases. Some evidences show altered iron related proteins in serum of autistic children. The aim of this work is to conduct a preliminary pilot study for the association of HFE polymorphisms and autism.Methods: All cases were referred from the clinic of special needs, National Research Centre, Cairo. Clinical diagnosis was based on the criteria for autistic disorder as defined in the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision (DSM-IV-TR).Whole genome DNA was extracted; p.H63D and p.C282Y genotyping was studied using specific sequence amplification followed by restriction enzyme digestion on a sample of autism patients (25 cases) and twenty controls.Results: The p.H63D is more abundant than the C282Y among both autism and control samples. No significant association of p.H63D nor p.C282Y polymorphism and autism was revealed.Conclusion: We here report on the first pilot study of the possible genetic association between autism and HFE gene polymorphisms among Egyptians. Although our results do not prove the role of HFE polymorphisms as risk factors for autism, yet this does not exclude the role of iron in this prevalent disorder. Further extended studies are recommended to include other iron metabolism genes.
Plasma Oxidized Low-Density Lipoprotein Is an Independent Risk Factor in Young Patients with Coronary Artery Disease
Authors: Huang Yuli , Hu Yunzhao , Mai Weiyi , Cai Xiaoyan , Song Yuanbin , Wu Yanxian , Dong Yugang , Huang Huiling , He Zhongyun , Li Wensheng , Yang You , Rao Shaoqi 
Published: June 2013

Objectives:Oxidized low-density lipoprotein (ox-LDL) is considered to be a key factor of initiating and accelerating atherosclerosis. The objective of this study was to investigate the role of ox-LDL in young patients with coronary artery disease (CAD).Methods:128 consecutive angiographically proven young CAD patients (aged ≤ 55 years) were enrolled, and 132 age-matched non-CAD individuals (coronary angiography normal or negative finding by coronary ultrafast CT) were set as control group. Conventional risk factors (hypertension, dyslipidemia, diabetes mellitus, obesity, smoking) were evaluated in the two groups. Ox-LDL was measured by competitive ELISA. Framingham risk score (FRS) and absolute 10-year CAD events risk were calculated for each individual.Results:Male sex was more prevalent in group CAD than in control (87.5% vs. 62.1%;P< 0.01). There were significant differences in smoking history (P< 0.01) and triglyeride (TG) and ratio of apolipoprotein B/apolipoprotein A1 (ApoB/ApoA1) (bothP< 0.05) but no remarkable difference in other conventional risk factors (allP> 0.05) between group CAD and control. Level of ox-LDL was significantly higher in group CAD than in control (P < 0.01). Multivariate logistic regression showed that male sex (OR, 4.54; 95%CI, 1.76–9.77), smoking quantity (OR, 2.78; 95%CI, 1.34–4.25), TG (OR, 1.42; 95%CI, 1.18–2.83), ApoB/ApoA1 (OR, 1.73; 95%CI, 1.32–4.23), and ox-LDL (OR, 2.15; 95%CI, 1.37–6.95) were independently correlated with CAD in young patients. Area under the curve (AUC) of receiver operating characteristic (ROC) curve of TG, ApoB/ApoA1, and ox-LDL was 0.831, 0.866, and 0.935, respectively (P< 0.001).Conclusions:Ox-LDL is an important independent risk factor for CAD in young patients after adjusting other risk factors such as smoking, TG, and ApoB/ApoA1.
MMP-9, Homocysteine and CRP Circulating Levels Are Associated with Intraluminal Thrombus Thickness of Abdominal Aortic Aneurysms–New Implication of the Old Biomarkers
Authors: Wiernicki Ireneusz , Millo Barbara , Safranow Krzysztof , Gorecka-Szyld Barbara , Gutowski Piotr 
Published: June 2013

Background:Abdominal aortic aneurysms (AAAs) are characterized by presence of high proteolytic activity, atherosclerotic lesions, extensive transmural inflammation and the presence of variably sized and shaped intraluminal thrombus (ILT). Therefore, we evaluated a possible association between plasma matrix metalloproteinase-9 (MMP-9), homocysteine (Hcy), high-sensitivity C-reactive protein (hsCRP) levels and ILT thickness in patients with AAA.Methods:Plasma concentrations of MMP-9, Hcy and hsCRP were determined and ILT thickness was measured in 71 patients with AAA. They were divided into 2 groups according to ILT thickness: 34 patients with ILT mean thickness ≥ 9 mm and 37 patients with ILT < 9 mm.Results:Plasma MMP-9 and CRP concentrations in patients with thin ILT were significantly higher than in group with thick ILT (medians 610 vs. 485 ng/mL,p= 0.00003, and 7.7 vs. 3.3 mg/L,p< 0.00001, respectively) In contrast, plasma Hcy concentrations in patients with thin ILT were significantly lower than in the group with thick ILT (medians 14.3 vs. 19.2 μmol/L,p< 0.00001). Multiple regression models adjusted for age and AAA diameter showed that thin ILT is an independent predictor of high MMP-9 and CRP concentrations, while thick ILT predicts high Hcy concentrations.Conclusions:Association of higher plasma levels of MMP-9 and CRP with thin ILT may be related to two phenomena: thin thrombi convey more elastolysis-stimulating factors from blood to the AAA wall and thin thrombi convey more factors involved in proteolysis and inflammation from AAA wall to blood. The association of thin ILT with lower plasma Hcy concentrations may be related to the role of Hcy as a prothrombotic marker and needs further research.
Mcl-1 Expression Is Up-Regulated in Malignancies of the Parotid Gland
Authors: Heiduschka Gregor , Erovic Boban M. , Pammer Johannes , Kotowski Ulana , Kaider Alexandra , Ch. Grasl Matthaeus , Thurnher Dietmar 
Published: June 2013

The anti-apoptotic protein Mcl-1 is highly expressed in various types of malignant tumors. Overexpression is reported to correlate with poor prognosis and disease progression. We report the expression levels of Mcl-1 in tumor samples of the parotid gland. A retrospective study containing 108 patients was performed. A tissue microarray of six malignancies of the parotid gland and pleomorphic adenoma as control was constructed. Parotid gland tumor samples were immunohistochemically stained for Mcl-1 and expression intensities were assessed. Statistical analysis included correlation to patients' clinical data and comparison of malignancies to the adenoma.All malignancies had significantly higher expression of Mcl-1 than the pleomorphic adenomas. The intensity, however, had no significant correlation to overall survival.Our immunohistochemical findings indicate that parotid gland malignancies produce high levels of Mcl-1 protein. Therefore, Mcl-1 might serve as a predictive co-marker in tumors of the parotid gland.
Associations of Single Nucleotide Polymorphisms in the Adiponectin Gene with Adiponectin Levels and Cardio-Metabolic Risk Factors in Patients with Cancer
Authors: Al Khaldi Rasha Mazen , Al Mulla Fahd , Al Awadhi Shafika , Kapila Kusum , Mojiminiyi Olusegun A. 
Published: June 2013

Objectives: The aims of this study are to (1) study the influence of polymorphisms in adiponectin gene on adiponectin levels and potential associations with breast, prostate and colon cancer; (2) investigate the associations of adiponectin levels with other adipokines and breast, prostate and colon cancers.Subjects: We measured fasting adiponectin, leptin, insulin, Sex steroids in 132 (66 females, 66 males) cancer patients and 68 age and sex matched apparently healthy subjects. Body Mass Index (BMI) and waist circumference were used as indices of obesity. Insulin Resistance was assessed using Homeostasis Model Assessment (HOMA). Three single nucleotide polymorphisms (SNP rs182052 (G-10066-A), SNP rs1501299 (276G > T), SNP rs224176 (45T > G) in adiponectin gene were studied using Real Time Polymerase Chain Reaction.Results: GG genotype of SNP rs1501299 was significantly associated with higher levels of adiponectin (OR=1.2, 95%CI(1.03–1.3),p= 0.02); breast (OR=8.6, 95%CI(1.03–71),p= 0.04), colon cancers (OR= 12, 95%CI(1.2–115),p= 0.03). GT genotype was also associated significantly with colon cancer (OR=2.6, 95%CI (1.1–6),p= 0.03). However SNP rs224176 was associated with only breast cancer.Conclusion: Our results demonstrate that adiponectin gene SNP rs1501299 and SNP rs224176 may be the predisposing factors in some cancers but our results differ from what has been reported in other populations suggesting a complex relationship between genetic variations and phenotypic adiponectin levels.
Combined Analysis of EPHX1, GSTP1, GSTM1 and GSTT1 Gene Polymorphisms in Relation to Chronic Obstructive Pulmonary Disease Risk and Lung Function Impairment
Authors: Lakhdar Ramzi , Denden Sabri , Knani Jalel , Leban Nadia , Daimi Houria , Hassine Mohsen , Lefranc Gérard , Chibani Jemni Ben , Khelil Amel Haj 
Published: June 2013

Smoking is considered as the major causal factor of chronic obstructive pulmonary disease (COPD). Nevertheless, a minority of chronic heavy cigarette smokers develops COPD. This suggests important contribution of other factors such as genetic predisposing. Our objective was to investigate combined role of EPHX1, GSTP1, M1 and T1 gene polymorphisms in COPD risk, its phenotypes and lung function impairment. Prevalence of EPHX1, GSTP1, M1 and T1 gene polymorphisms were assessed in 234 COPD patients and 182 healthy controls from Tunisia. Genotypes of EPHX1 (Tyr113His; His139Arg) and GSTP1 (Ile105Val; Ala114Val) polymorphisms were performed by PCR-RFLP, while the deletion in GSTM1 and GSTT1 genes was determined using multiplex PCR. Analysis of combinations showed a significant association of 113His/His EPHX1/null-GSTM1 (OR = 4.07) and null-GSTM1/105Val/Val GSTP1 (OR = 3.56) genotypes with increased risk of COPD (respectively P=0.0094 and P=0.0153). The null-GSTM1/ null-GSTT1, 105Val/Val GSTP1/null GSTT1, 113His/His EPHX1/null-GSTM1 and null-GSTM1/105Val/Val GSTP1 genotypes were related to emphysema (respectively P = 0.01; P = 0.009; P = 0.008 and P = 0.001). Combination of 113His/His EPHX1/null-GSTM1 genotypes showed a significant association with the decrease of ΔFEV1 in patients (P = 0.028).In conclusion, our results suggest combined EPHX1, GSTP1, GSTM1 and GSTT1 genetic polymorphisms may play a significant role in the development of COPD, emphysema and decline of the lung function.
Oxidized Low-Density Lipoprotein Cholesterol and the Ratio in the Diagnosis and Evaluation of Therapeutic Effect In Patients with Coronary Artery Disease
Authors: Huang Huiling , Ma R. , Liu Dan , Liu Chen , Ma Yuedong , Mai Weiyi , Dong Yugang 
Published: June 2013

Objective: The purpose of the present study was to investigate the value of ox-LDL and oxidation ratio of LDL (ox-LDL/TC, ox-LDL/HDL-C and ox-LDL/LDL-C) in diagnosis and prognosis evaluation in CAD patients. Also, we aimed to observe the effect of statins on reducing level of ox-LDL and oxidation ratio of LDL, and explore whether statins still have similar effect on ox-LDL in a short period of therapy (within 2 weeks).Methods: Blood ox-LDL, TC, HDL-C, LDL-C, and TG were measured in cases with acute myocardial infarction (AMI,n= 177), unstable angina pectoris (UAP,n= 195), stable angina pectoris (SAP,n= 228), normal control (n= 120), and high risk control (n= 140).Results: Mean value of ox-LDL and oxidation ratio of LDL was significantly higher in the CAD group than in the two control groups. The AUC of ROC curve of ox-LDL, ox-LDL/TC, ox-LDL/HDL-C, ox-LDL/LDL-C and apoA1/apoB were more than 0.50 (P< 0.001). Multivariate logistic regression analysis showed that age and ox-LDL/LDL-C related with short-term, while ox-LDL/LDL-C and ox-LDL/TC related with long-term prognosis (P< 0.05). Furthermore, after treatment with statins for 2 weeks, TC, LDL-C, ox-LDL, ox-LDL/TC, ox-LDL/HDL-C and ox-LDL/LDL-C decreased by 22%, 28%, 38%, 29%, 23% and 25% respectively. And the reduction of ox-LDL by statins is independent of lowering of LDL-C and TC.Conclusions: Ox-LDL and oxidation ratio of LDL are closely related with AS, and they are better biomarkers for discriminating between patients with coronary artery disease and healthy subjects. In addition, statins can decrease level of ox-LDL significantly, which is independent of lowering of LDL-C and TC.