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Bhanushali A.A.,Super Religare Laboratories Ltd. | Contractor A.,Asian Heart Institute | Shah V.T.,Vt Shah Clinic And Diagnostic Center | Das B.R.,Super Religare Laboratories Ltd.
Genetic Testing and Molecular Biomarkers | Year: 2011

Background: A single-nucleotide polymorphism Trp719Arg (rs20455T>C) in the kinesin-like protein 6 (KIF6), which is a protein involved in intracellular transport, has been shown to predict increased coronary artery disease (CAD) risk and event reduction during statin therapy. Aim: In the current study, we have evaluated the association of the variant Trp719Arg with CAD/non fatal myocardial infarction (MI) in Western Indians. Methods: Genotyping for Trp719Arg was done by an allele-specific real-time assay in 227 cases with confirmed CAD and 150 controls. Results: We have found that the KIF6 719 Arg carriers were not at a significantly higher risk for CAD/non-fatal MI in this case-control study of an Indo-European population from Western India (Unadjusted odds ratio [OR] 0.767 95% confidence interval [CI] 0.573-1.027 for 719Arg carriers). When the genotypes were further tested to determine association with prevalent myocardial infarction as the event versus CAD, no association was seen in a univariate analysis (MI vs. CAD OR 0.804 95% CI 0.543-1.189; MI vs. Controls OR 0.702 95% CI 0.482-1.021). Conclusion: In summary, carriers of the KIF6 719Arg allele were not at increased risk of CAD/non-fatal MI in a case-control study of Indians (Indo-Europeans) living in Western India. © Copyright 2011, Mary Ann Liebert, Inc.

Sahoo K.C.,Karolinska Institutet | Tamhankar A.J.,Rd Gardi Medical College | Sahoo S.,Super Religare Laboratories Ltd | Sahu P.S.,KIIT University | And 2 more authors.
International Journal of Environmental Research and Public Health | Year: 2012

Little information is available on relationships between the biophysical environment and antibiotic resistance. This study was conducted to investigate the antibiotic resistance pattern of Escherichia coli isolated from child stool samples, cow-dung and drinking water from the non-coastal (230 households) and coastal (187 households) regions of Odisha, India. Susceptibility testing of E. coli isolates (n = 696) to the following antibiotics: tetracycline, ampicillin/sulbactam, cefuroxime, cefotaxime, cefixime, cotrimoxazole, amikacin, ciprofloxacin, norfloxacin and nalidixic acid was performed by the disk diffusion method. Ciprofloxacin minimum inhibitory concentration (MIC) values were determined for ciprofloxacin-resistant isolates (n = 83). Resistance to at least one antibiotic was detected in 90% or more of the E. coli isolates. Ciprofloxacin MIC values ranged from 8 to 32 μg/mL. The odds ratio (OR) of resistance in E. coli isolates from children's stool (OR = 3.1, 95% CI 1.18-8.01), cow-dung (OR = 3.6, 95% CI 1.59-8.03, P = 0.002) and drinking water (OR = 3.8, 95% CI 1.00-14.44, P = 0.049) were higher in non-coastal compared to coastal region. Similarly, the co-resistance in cow-dung (OR = 2.5, 95% CI 1.39-4.37, P = 0.002) and drinking water (OR = 3.2, 95% CI 1.36-7.41, P = 0.008) as well as the multi-resistance in cow-dung (OR = 2.2, 95% CI 1.12-4.34, P = 0.022) and drinking water (OR = 2.7, 95% CI 1.06-7.07, P = 0.036) were also higher in the non-coastal compared to the coastal region. © 2012 by the authors; licensee MDPI, Basel, Switzerland.

Sood S.,Super Religare Laboratories Ltd. | Gupta R.,Fortis Escorts Hospital
Indian Journal of Community Medicine | Year: 2012

Background: Urinary tract infections (UTIs) are amongst the most common infections described in outpatients setting. Objectives : A study was conducted to evaluate the uropathogenic bacterial flora and its antimicrobial susceptibility profile among patients presenting to the out-patient clinics of a tertiary care hospital at Jaipur, Rajasthan. Materials and Methods : 2012 consecutive urine specimens from symptomatic UTI cases attending to the outpatient clinics were processed in the Microbiology lab. Bacterial isolates obtained were identified using biochemical reactions. Antimicrobial susceptibility testing was performed by the Kirby-Bauer disc diffusion method. Extended spectrum beta lactamase (ESBL) production was determined by the double disk approximation test and the Clinical and Laboratory Standards Institute (formerly NCCLS) confirmatory method. Results: Pathogens were isolated from 346 (17.16%) of the 2012 patients who submitted a urine sample. Escherichia coli was the most frequently isolated community acquired uropathogen accounting for 61.84% of the total isolates. ESBL production was observed in 23.83% of E. coli strains and 8.69% of Klebsiella strains. With the exception of Nitrofurantoin, resistance to agents commonly used as empiric oral treatments for UTI was quite high. Conclusion : The study revealed E. coli as the predominant bacterial pathogen for the community acquired UTIs in Jaipur, Rajasthan. An increasing trend in the production ESBLs among UTI pathogens in the community was noted. Nitrofurantoin should be used as empirical therapy for primary, uncomplicated UTIs.

Ahmad F.,Super Religare Laboratories Ltd. | D'Souza W.,Super Religare Laboratories Ltd. | Mandava S.,Super Religare Laboratories Ltd. | Ranjan Das B.,Super Religare Laboratories Ltd. | Ranjan Das B.,Division Prime
Leukemia and Lymphoma | Year: 2011

Mutations of the WT1 gene have been reported as the most common abnormality after NPM1 and FLT3 gene mutations in acute myeloid leukemia (AML), while KIT mutations are predominantly found in core-binding factor (CBF) AMLs. We report for the first time the prevalence and distribution patterns of WT1 and KIT mutations in an Indian population of 150. Overall, 10 (6.7%) and four (2.7%) of the cases had WT1 and KIT mutations, respectively. Of the six mutations observed in exon 7, five were frameshift while the remaining one case showed a substitution mutation. In contrast to exon 7, no frameshift mutation was detected in exon 9, where all mutations were substitution mutations. Interestingly, we observed a novel mutation in exon 8 of the KIT gene resulting from the deletion of nine nucleotides and insertion of three nucleotides affecting the extracellular domain of the KIT receptor, while Asp816Tyr and Asp816His were commonly found in exon 17 of the KIT gene. The WT1 mutation was more prevalent in normal karyotype AML while KIT was associated with t(8;21). With respect to FLT3 and NPM1 mutations, WT1 was more predominant in FLT3 positive cases and less in NPM1 mutation cases, while no KIT mutation was found in FLT3/NPM1 positive cases. © 2011 Informa UK, Ltd.

Ahmad F.,Division Prime | Rajput S.,Division Prime | Mandava S.,Super Religare Laboratories Ltd. | Das B.R.,Division Prime
Genetic Testing and Molecular Biomarkers | Year: 2012

Background and Aim: Mutation in the CAAT/enhancer binding protein-α (CEBPA) gene has been reported as being one of the common genetic abnormalities in acute myeloid leukemia (AML) and is associated with a good clinical outcome. We intend to explore the prevalence of CEBPA mutations and evaluate the efficacy of fragment and sequencing analysis methods for CEBPA mutation detection in Indian AML patients. Materials and Methods: The coding region of the CEBPA gene was screened in 36 normal karyotype AML patients by fragment analysis and direct sequencing. Results: We identified five CEBPA sequence variations in three patient samples (8.3%) by direct sequencing analysis, of which three were novel mutations. These mutations were clustered mostly in the TAD1 and basic region leucine zipper region of the CEBPA protein. Six cases demonstrated a previously reported polymorphism. Two of the three positive cases showed double mutations, and one case had a single mutation. All five mutations were also detected by fragment analysis, indicating a sensitivity of 100% (5/5). No correlation with clinical parameters including age, sex, white blood cell count, hemoglobin, and platelet count between patients with and without mutation was observed. Interestingly, CEBPA mutations were significantly higher in patients with WT1 mutation, while no correlation with FLT3 and NPM1 was observed. Conclusion: We report for the first time the frequency of CEBPA mutation from an Indian patients (8.3%). The identification of novel CEBPA mutations added new insights into the genetic heterogeneity of AML. Our result suggests that the optimal approach for detecting CEBPA mutations in AML can be a combination of fragment analysis and direct sequencing. © Copyright 2012, Mary Ann Liebert, Inc.

Mandava S.,Super Religare Laboratories Ltd. | Koppaka N.,Super Religare Laboratories Ltd. | Bhatia V.,Super Religare Laboratories Ltd. | Das B.R.,Super Religare Laboratories Ltd.
Genetic Testing and Molecular Biomarkers | Year: 2010

Background: Down syndrome (DS) is the most common genetic reason for learning disability and congenital malformations in the human population, occurring with an incidence of 1 in 650-1000 newborns. Objective: The aim of this study was to perform chromosome analysis in suspected DS cases with clinical features such as dysmorphism, epicanthic folds, simian crease, and hypotonia, referred to Super Religare Laboratories, Mumbai, India. Methodology: Cytogenetic analysis of peripheral blood lymphocyte cultures was performed at 550-band level using the modified standard protocol. Results: In this study, male: female sex ratio of DS patients was found to be 1.84: 1. Among 1572 cases of DS, standard trisomy 21 in 1400 (89.05%) cases, Robertsonian translocation in 111 (7.06%) cases, and Mosaic form in 28 (1.78%) cases were observed. Three cases of double aneuploidy mos 47,XY,+21/47,XXY and one case of mosaic double aneuploidy mos 47,XY,+21/48,XXY,+21 were noticed. In addition, two novel findings 47,XY,t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) with DS features are presented. Conclusion: In this study, 1572 cases were confirmed as DS, of which maximum cases showed standard trisomy 21. Parental karyotyping and genetic counseling were recommended for the cases confirmed as DS after chromosome analysis. © 2010, Mary Ann Liebert, Inc.

Barman P.,Super Religare Laboratories Ltd | Sidhwa H.,Super Religare Laboratories Ltd | Shirkhande P.A.,Super Religare Laboratories Ltd
Journal of Global Infectious Diseases | Year: 2011

Burkhloderia pseudomallei has recently gained importance as an emerging pathogen in India. It causes various clinical manifestations like pneumoniae, septicaemia, arthritis, abscess etc. Cases have been reported from Southeast Asia mainly Thailand, Malaysia, Vietnam, etc. In India, few cases have been reported mainly from the southern part of the country. Patient was a 65-year-old male and presented with fever 1 month back, cough and breathlessness for same period, swelling on both ankles from 7 days. B. pseudomallei was isolated from endotracheal secretions, blood cultures, leg wound. He was successfully treated with Imipenem and Doxycycline and put on maintenance therapy now, and is currently doing well.

Coronary artery disease (CAD) arises due to a complex interplay between the environment and genetic factors. Alterations in many of the biomarkers such as lipids and lipoprotein levels are characteristic of CAD. The phenotypes themselves have genetic determinants, and many single-nucleotide polymorphisms (SNPs) have been identified which influence them. The current study aims to evaluate the effect of six common polymorphisms at four loci, lipoprotein lipase (D9N, N291S, S447X), apolipoprotein E (APOE), cholesteryl ester transfer protein (C277T), and endothelial nitric oxide synthase (E298D), on lipid and lipoprotein levels and its association with CAD. Genotyping for the SNPs was done in 240 Indians of which 90 had proven CAD. The other 150 were clinically free from CAD and acted as controls. Relation of genetic variants, clinical history, and biochemical parameters with CAD were analyzed by multiple regression analysis. The frequency of the B2 allele in the CETP gene was significantly lower in cases than in controls (0.40 vs 0.49, P=0.042). Significant association of CETP Taq1B SNP was seen with total cholesterol and low density lipoprotein cholesterol. Multivariate analysis accounting for clinical and metabolic predictors of CAD showed smoking to be a significant risk factor (odds ratio (OR) 4.347, 95% confidence interval (CI) 1.888-10.012, P=0.001) and the CETP B2 variant imparting atheroprotection (OR 0.312, 95% CI 0.116-0.841, P=0.021) possibly through a favorable lipid profile. None of the other SNPs were associated with the risk of CAD. © Springer-Verlag 2010.

Yadav A.K.,Super Religare Laboratories Ltd.
Indian Journal of Pathology and Microbiology | Year: 2010

Context: Hemoglobin (Hb) Q variant is a group of hemoglobinopathies prevalent in south, south-east and western Asia. The primary structure of all of these molecules is well known. However, very little is known about the secondary and tertiary structures of these molecules. Therefore, a study of their secondary and tertiary structures is needed. Aim: The study was aimed at investigating the secondary and tertiary structures of common Hb Q variants using bioinformatics tool. Settings and Design: The secondary and tertiary structures of common Hb Q variants were evaluated using NNPREDICT server and CPHmodels 2.0 server, respectively. Materials and Methods: Amino acid sequence of alpha globin chain was searched using ExPASY and was used for further mutation to Hb Q variants. The derived sequences were further analyzed using NNPREDICT server and CPHmodels 2.0 server to calculate their secondary and tertiary structures, respectively. These were then compared and any differences noted. Results: It was observed that there is no difference between the predicted secondary structures of normal alpha globin and Hb Q-India. Hb Q-Iran carries an extra helix while Hb Q-Thailand carries two extra helices. The results of tertiary structure prediction also support these findings. Conclusions: Differences in secondary and tertiary structure of various Hb Q variants have been observed in the present study. The study provides valuable data for better understanding of these uncommon hemoglobinopathies.

Bhanushali A.A.,Super Religare Laboratories Ltd. | Das B.R.,Super Religare Laboratories Ltd.
Indian Journal of Human Genetics | Year: 2013

Introduction: A central component of the atherosclerotic process is inflammation. Single nucleotide polymorphisms (SNPs) present in the promoter region of various cytokines can lead to altered levels of the transcript and a state of low-grade inflammation exacerbating the risk of coronary artery disease (CAD). The present work tries to understand the role of permissive promoter variants in the interleukin-6 gene (IL-6-174G/C) and the tumor necrosis factor alpha (TNFα-308G/A) in the causation of CAD and also dyslipidemia. Materials and Methods: Genotyping was conducted on 100 cases of CAD and 150 controls by the allele termination assay SNaPshot. Biochemical parameters were determined by routine enzymatic endpoint methods. The results were analyzed by appropriate statistical methods. Results: No differences in the minor allele frequency IL-6-174G/C SNP were seen between cases and controls (0.13 vs. 0.12). The differences in the allele frequency of TNFα-308A between cases (6%) and controls (2%) have led to an odds ratio, 3.370; 95% confidence interval, 1.039-11.543; P=0.033 in the univariate analysis. In the final logistic regression analysis, however none of the variants were associated with an increased risk of CAD. Conclusions: In summary, no association of the permissive promoter variants in the IL-6 gene and the TNFα gene were seen with an increased CAD risk. These and other studies highlight the importance of doing population specific studies.

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