Search

Background and Objectives: Rate of blood transfusion is considerably low in transurethral resection of the prostate (TURP). We follow type and crossmatch (TC) policy in TURP. The objective was to assess the suitability of TC policy along with the impact of preoperative (preop) prostate weight and hemoglobin (Hb) on the pattern of blood ordering (whether demand for TC was sent or not). Methods: Retrospective analysis of TURP patients was done from 2014 to 2017. Patients were divided into 2 groups on the basis of whether the demand for TC was sent or not. The age, preop prostate weight and preop Hb of patients where demand for TC sent was compared with patients where TC demand was not sent. Crossmatch to transfusion ratio (Crossmatch to transfusion ratio C/T ratio), Transfusion probability (%T) and Transfusion index (TI) were calculated. Results: Among the total 92 TURP patients, 42.4% (39/92) had TC samples sent preoperatively. Only three patients (3.2%, 3/92) required transfusion intraoperatively. CT ratio was 23.6, %T was 7.6% and TI was 0.07. Preop prostate weight and Hb were significantly higher and lower, respectively, for the group where request for TC was sent. Transfusion probability was also higher for this group. Conclusion: The blood utilization indices show the inadequate utilization of blood and that TC policy is unnecessary. Type and screen policy can be used for patients with large prostate and/or low Hb while type and hold would be appropriate for rest of the patients. Change in pretransfusion policy would reduce workforce and reagent wastage along with efficient inventory management. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: To study the prevalence of rheumatic musculoskeletal symptoms in rural and urban areas of Lucknow. Method: The survey was carried out in a cluster of rural (n = 5118) and urban (n = 5053) communities of Lucknow through a door‐to‐door survey. Demographic data were collected and subjects with musculoskeletal pain (MSK pain) were identified. A Hindi adapted version of the Community Oriented Program for the Control of Rheumatic Diseases questionnaire was used. Trained community volunteers completed the questionnaire. Results: Present and past MSK pain was the most common self‐reported problem in urban areas (34.1%), while it was the third most common self‐reported problem in rural areas (15.1%), after abdominal pain and cough. Females (214.9 and 419.5 per 1000) were more affected than males (118.8 and 265.2 per 1000) in rural and urban areas, respectively. Point prevalence of MSK pain (pain in last week) was higher in urban areas (28.2%) compared to rural areas (14.1%). In rural as well as urban areas, knee (rural: 49.3%, urban: 50.6%) and spine (rural: 56%, urban: 43.6%) were highly reported pain sites. Fatigue ([n] rural: 328, urban: 368) weakness ([n] rural: 310, urban: 324) and anorexia ([n] rural: 84, urban: 142) were most common systemic symptoms reported by urban as well as rural people. Urethritis/balanitis and ulcers in the mouth were the most common other symptoms reported by people in both the areas. Conclusion: MSK pain is a predominant health problem of both rural and urban areas. Sex‐adjusted prevalence is higher among females than males. Knee and back were highly prevalent pain sites in both rural and urban areas of Lucknow. [ABSTRACT FROM AUTHOR]

Purpose The purpose of this paper is to test the conceptual model of consumers’ intention and satisfaction towards mobile wallets. This study uses the integrated UTAUT model which includes variables such as ease of use, trust, security, self-efficacy, etc., and an additional variable (hedonism) to test consumers’ behaviour in the context of mobile banking technologies. Regression analysis, ANOVA and descriptive analysis are used to test the relationship among several dimensions such as perceptions, preferences, satisfaction and usage rate of mobile wallets in North India. A sample of 204 North Indian consumers was taken to understand the consumers’ adoption behaviour towards mobile wallet. The study explains the significance of the proposed model and its effectiveness to understand the behaviour of North Indian consumers. The result shows a significant association between consumers’ perception, preference, usage and satisfaction. Security, trust and hedonism are few of the most influencing variables in the study. Demographic variables such as gender and age also influence consumer satisfaction and usage rate of mobile wallets in North India. The proposed model and results of the study bring valuable insights into researchers and practitioners in the context of usage of mobile wallets.Design/methodology/approach Various standardized scales were used in the present study. Statistical techniques like descriptive statistics, analysis of variance, t-test, χ2 and regression analysis were used to assess the data. The data were collected with three separate questionnaires on variables perception, preference, usage and satisfaction.Findings Findings of this study show a strong relation between customer’s perception, preference and satisfaction of mobile wallet users. The result also shows the impact of customer’s perception, satisfaction and preference on the usage rate of mobile wallets in India. The authors have collected responses from the various regions in south and North India.Research limitations/implications The first contribution of this study is that it shows a strong correlation between consumers’ perception, preferences and satisfaction. Various studies are available to understand the impact of perception on satisfaction (Samudra and Phadtare, 2012; Venkatesh and Davis, 2000, Thakur, 2013), but very few studies have integrated it with preference and mobile wallet usage. Moreover, no study is available on these variables specifically for North Indian consumers. This study is unique in the sense that it discuss the association of consumer’s perception with type of transactions they prefer to do in M-wallets. This paper also identify one more crucial factors, “hedonism” which is not discussed extensively in the literature.Practical implications The study has several implications to the mobile technology industry and the banking system to identify new strategies for mobile wallet usage. Factors like security, convenience and trust influence consumers’ intention. This indicates that industries and banks must verify users’ privacy norms and evaluate social trends to enhance user’s satisfaction and usage rate. Hedonism is determined as one of the significant variable to measure consumer’s satisfaction and usage tendency. Mobile technology providers should work on the appearances and design of the apps, and promote its convenience and benefits to increase its usage in North India. Based on the findings of this study, companies can also evaluate preferred wallet services for consumers, and factors affecting those services. This will help them to add more attractive services based on consumers’ feedback, and remove unwanted services.Social implications The study also stressed the impact of society and family/friends on mobile wallet’s usage. Customers learn new things from family and society and get influence with their choice and preferences. This will help institutions to understand various factors leads to mobile wallet usage and enhance the satisfaction level of customers.Originality/value Although various studies have been conducted on the perception of customers on various mobile payment systems, but this paper is the first of its kind to study customer’s perception about wallets and type of transactions; they prefer to do through mobile wallets. This paper also study the impact of mobile wallet usage and various factors affecting the usage rate. This paper also identified one crucial factor, “hedonism”, which is not discussed thoroughly in the literature, and its significance in North India. [ABSTRACT FROM AUTHOR]

To measure maternal serum beta human chorionic gonadotropin during 13-24 weeks of pregnancy and compare the same between those who develop pregnancy induced hypertension with those who do not. In a prospective study βhCG levels were estimated in 75 antenatal women in the second trimester (12-24 weeks) by ELISA technique. Results were noted in terms of development of preeclampsia, mean serum levels of the marker, mode of delivery and complications. During the course of study, a total of 8 (10.7%) patients developed hypertension. Thus incidence of pregnancy induced hypertension was 10.7%. A significant rise of mean serum βhCG level (32022MIU/ml, mean)was present in those who developed preeclampsia. The marker can prove an important role in early recognition of a pregnancy related complication and provides the obstetrician ample opportunity to guide the management during pregnancy. [ABSTRACT FROM AUTHOR]

The present investigation was carried out to study gut content and accompanying digestive enzyme profiles of the three carp species, golden mahseer Tor putitora, snow trout Schizothorax richardsonii and hill trout Barilius barila. The fishes were captured from the River Ladhiya, Champawat district, Uttarakhand, northern India. The digestive tract length was on average 1.8 and 2.3 times longer than the body, while members of Bacillariophyceae, Chlorophyceae, Cyanophyceae and Zygnematophyceae made up 95.15% and 99.63% of gut content in the golden mahseer and snow trout, respectively. In hill trout, the digestive tract being only half the body length, gut content was insects (72.73%), eggs of aquatic organisms (22.73%) and nematodes (4.55%). Estimated gut enzyme activities demonstrated that amylase activity was significantly ( P < 0.05) higher in golden mahseer and snow trout compared to hill trout, while total protease, trypsin and chymotrypsin activities were all significantly ( P < 0.05) higher in the hill trout compared to other species. A strong co-relation was found among relative gut length, food composition and digestive enzyme activities of each species. This may guide the future formulation of feed to these important species of carps kept in farm. [ABSTRACT FROM AUTHOR]

Aim The present study aimed to evaluate association of genetic variants on drug response and therapy optimization parameters in patients treated with first-line antiepileptic drugs ( AEDs). Genetic variants from ion channels, their functionally related genes, and synaptic vesicle cycle ( SVC) genes with a potential role in epilepsy pathophysiology were thus prioritized. Methods A total of 12 genes from ion channels and related gene set and seven genes from SVC comprising 155 SNPs were genotyped and evaluated with drug response, dose levels, and drug levels in 408 patients with epilepsy. Results Both GABRA1 and SCN1A variants showed haplotypic and diplotypic associations in response to phenytoin ( PHT). Diplotype analysis of GABRA1 variants revealed association of rs12658835|rs7735530 ( AG/ AG) ( P-valuecorrected = 0.034, OR = 3.75, 95% CI = 1.36-11.05) and rs12658835|rs7735530|rs7732641|rs2279020 ( AGCA/ AGCA) ( P-valuecorrected = 0.035, OR = 2.48, 95% CI = 0.96-6.41) with recurrent seizures. SCN1A haplotype rs6432860|rs3812718 ( AC: P-valuecorrected = 0.022, OR = 2.72, 95% CI = 1.39-5.35) and diplotype ( AC/ AC: P-valuecorrected = 0.034, OR = 6.42, 95% CI = 1.10-65.76) were further observed to be associated with recurrent seizures. With respect to therapy optimization parameters, we observed significantly lower dose-adjusted drug levels at maximum dose of PHT in patients carrying AC/ AC diplotype ( P-value = 0.021). Conclusion The results further substantiate the role of GABRA1 in PHT mode of action and contribution of SCN1A in response and therapy optimization with PHT monotherapy. [ABSTRACT FROM AUTHOR]

Objective: Cholesterol gallstone disease (CGD) is a multifactorial and multistep disease. Apart from female gender and increasing age being the documented non-modifiable risk factor for gallstones the pathobiological mechanisms underlying the phenotypic expression of CGD appear to be rather complex, and one or more variations in genes could play critical roles in the diverse pathways further progressing to cholesterol crystal formation. In the present study we performed genotyping score, Multifactor dimensionality reduction (MDR) and Classification and Regression Tree analysis (CART) to identify combinations of alleles among the hormonal, hepatocanalicular transporter and adipogenesis differentiation pathway genes in modifying the risk for CGD. Design: The present case-control study recruited total of 450 subjects, including 230 CGD patients and 220 controls. We analyzed common ESR1, ESR2, PGR, ADRB3, ADRA2A, ABCG8, SLCO1B1, PPARγ2, and SREBP2 gene polymorphisms to find out combinations of genetic variants contributing to CGD risk, using multi-analytical approaches (G-score, MDR, and CART). Results: Single locus analysis by logistic regression showed association of ESR1 IVS1-397C>T (rs2234693), IVS1-351A>G (rs9340799) PGR ins/del (rs1042838) ADRB3-190 T>C (rs4994) ABCG8 D19H (rs11887534), SLCO1B1 Exon4 C>A (rs11045819) and SREBP2 1784G>C (rs2228314) with CGD risk. However, the MDR and CART analysis revealed ESR1 IVS1-397C>T (rs2234693) ADRB3-190 T>C (rs4994) and ABCG8 D19H (rs11887534) polymorphisms as the best polymorphic signature for discriminating between cases and controls. The overall odds ratio for the applied multi-analytical approaches ranged from 4.33 to 10.05 showing an incremental risk for cholesterol crystal formation. In conclusion, our muti-analytical approach suggests that, ESR1, ADRB3, in addition to ABCG8 genetic variants confer significant risk for cholesterol gallstone disease. [ABSTRACT FROM AUTHOR]

Gallstone disease is an important cause of abdominal morbidity Organic anion transport protein 1B1 (OATP1B1) (encoded by SLCO1B1) is a major transporter protein for bile salt uptake in enterohepatic circulation of bile salts. Disturbance in this pathway can decrease relative concentration of bile salts in gallbladder and may lead to formation of gallstones. We investigated role of SLCO1B1 polymorphisms [(Exon4 C > A (Pro155Thr; rs11045819) and Ex6 + 40T > C (Val174Ala; rs4149056)] in conferring interindividual susceptibility to gallstone disease. A total of 173 healthy controls and 226 gallstone patients (USG positive) were recruited. Genotyping was done by using standard polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. The observed control frequencies of both polymorphisms of SLCO1B1 gene [(Exon4 C > A (Pro155Thr; rs11045819) and Ex6 + 40T > C (Val174Ala; rs4149056)] were in agreement with Hardy-Weinberg equilibrium. The frequency CA genotype and A allele of Exon4 C > A polymorphism was higher in gallstones patients (12.4% and 6.2%) as compared to controls (5.2% and 2.6%) which was statistically significant [( P = 0.029; OR = 2.31; 95% CI = 1.1-5.0); ( P = 0.034; OR = 2.22; 95% CI = 1.1-4.8)], respectively). However, distribution of genotypes and alleles of Ex6 + 40T > C polymorphism was almost similar between gallstone patients and controls. Haplotype analysis showed frequency of A,T haplotype consisting of was significantly higher in gallstone patients as compared to controls and was imposing risk for the disease ( P = 0.036; OR = 2.34; 95% CI = 1.0-5.1). These results suggest that SLCO1B1 Exon4 C > A polymorphism confers increased risk for gallstone disease in North Indian population. [ABSTRACT FROM AUTHOR]

The excretion of cholesterol from the liver is regulated by the ATP-binding cassette transporter ABCG8. A common genetic polymorphism D19H of ABCG8 might be related to the genetic predisposition of gallstone disease, which is causatively related to supersaturation of cholesterol in bile. We aimed to examine the role of the ABCG8 D19H (rs11887534) polymorphism in susceptibility to gallstone disease in the northern Indian population. The study included 220 confirmed gallstone patients and 230 controls. Genotyping for the ABCG8 D19H polymorphism was carried out using the PCR-RFLP method. We observed that the ABCG8 DH genotype frequency was significantly higher in gallstone patients ( P = 0.038; odds ratio [OR] = 2.20; 95% confidence interval [CI] = 1.1-4.6). At allele level also, the ABCG8 variant allele conferred an increased risk for gallstone susceptibility ( P = 0.043; OR = 2.12; 95% CI = 1.2-4.3). The risk as a result of ABCG8 D19H variation was more pronounced in female gallstone patients at genotype ( P = 0.026; OR = 3.01, 95% CI = 1.1-7.9) as well as allele level ( P = 0.030; OR = 2.85; 95% CI = 1.1-7.3). However, the molecular modeling results of the rs11887534 polymorphism showed that the overall configuration of both wild-type and polymorphic ABCG8 protein were similar, with negligible deviation at the site of polymorphism. Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population. [ABSTRACT FROM AUTHOR]

Gall bladder cancer (GBC) is a relatively rare but highly fatal disease, particularly in North India. The angiotensin I-converting enzyme ( ACE) insertion/deletion (I/D) gene polymorphism influences serum angiotensin II action, which has been associated with various malignancies. This population-based case–control study was undertaken to examine the potential association of ACE I/D variation with GBC in a North Indian population. Genotypes and allelic frequencies of the ACE I/D polymorphism (rs4646994) were determined for 233 GBC patients and 260 cancer-free controls randomly selected from the population using polymerase chain reaction. Odds ratio (OR) and 95% confidence interval were calculated in multivariate logistic regression analysis for the association of ACE polymorphism with GBC. The ACE I/D polymorphism was found to be nonsignificantly associated with an overall increased risk of GBC (OR = 1.04 and 1.38 for I/D and D/D genotypes, respectively; ptrend = 0.375). The increased risk was predominant significantly in female cohort and nonsignificantly in GBC patients with gallstone status (OR = 1.63; p = 0.039 and OR = 1.37; p = 0.187, respectively). In summary, ACE I/D polymorphism may alter the susceptibility to GBC, especially in women. [ABSTRACT FROM AUTHOR]

MicroRNAs (miRNAs) are small, non-coding RNA molecules that function as negative regulators of gene expression. Common genetic variants (single nucleotide polymorphisms, SNPs) in miRNA genes may alter their expression or maturation resulting in varied functional consequences. Present case–control study evaluated the potential association of three SNPs (rs2910164, rs11614913 and rs3746444) in pre-miRNAs with gallbladder cancer (GBC) risk in 230 GBC cases and 230 controls in a North Indian population. Odds ratio (OR) and 95% confidence interval (95% CI) were calculated for the association of individual SNPs and their interactions with GBC. A non-significant increased risk was observed between carriers of variant genotypes of rs2910164, rs11614913 and rs3746444 (ORs=1.3, 1.3 and 1.1, respectively). This increased risk was more profound in GBC patients with gallstones (ORs=1.4, 1.6 and 1.1, respectively). To further evaluate the cumulative effects of the variant allele, we did a combined unfavorable genotype analysis, which showed a borderline statistical significance. In comparison with the low-risk group (0–2 variant alleles), the high-risk group (>2 variant alleles) had a 1.7-fold (95% CI=1.0–2.8) increased risk for GBC (Ptrend=0.056). These findings suggest, for the first time, that common miRNA variants may not contribute to GBC susceptibility in North Indian population. [ABSTRACT FROM AUTHOR]

Vertical profiles of aerosol backscatter coefficient and depolarization ratio, obtained from the Cloud–Aerosol Lidar and Infrared Pathfinder Satellite Observation (CALIPSO) satellite, were studied in the upper troposphere and lower stratosphere (UTLS) region over North India (21–30° N and 72–90° E), covering the highly polluted Indo-Gangetic Plain (IGP) for one-year period from December 2011 to November 2012. An enhanced aerosol layer was observed between 15 and 18 km altitude, in the vicinity of tropopause, with a broad layer depth of about 2 km. The aerosol layer showed strong seasonal, monthly as well as day and night time variability, with a peak value of backscatter coefficient during monsoon season (∼5.54 × 10 −3 sr −1 in September). The corresponding depolarization ratio indicates anisotropic (non-spherical) nature of particles. The aerosol layer was found to be highly linked with the variability in tropopause height, showing a positive correlation between tropopause height and the height of maximum backscatter coefficient (correlation coefficient of 0.8). However, it was found to be negatively correlated with the integrated backscatter coefficient (IBC), with a correlation coefficient of 0.3. We further analyzed outgoing long-wave radiation (OLR) data during the study period to investigate the link between the observed enhanced aerosol layer in the UTLS region and prevailing deep convective activities over the study region. Low values of OLR during monsoon (about 214 W m −2 ) indicate the occurrence of deep convection over this region, which may cause a large-scale circulation-driven vertical transport of boundary-layer pollution into the atmosphere of UTLS region. Results may have potential implications for better understanding and assessing the chemical and radiative impacts of these aerosols in the tropical UTLS region. [ABSTRACT FROM AUTHOR]

Fossil leaves of Lagerstroemia (Lythraceae) are described from the Siwalik deposits (middle Miocene) of Kathgodam, Uttarakhand, India. The fossil records of the Lythraceae indicate its worldwide distribution in the Cenozoic. The family had its widest distribution during the Miocene but became less widespread during the Pliocene, followed by range expansion during the Quaternary. The present leaf fossil, along with the previous fossil records of Lagerstroemia, indicates that the genus followed the same pattern of expansion and retraction as the entire family Lythraceae suggesting that both the genus and the family adapted in similar ways. The fossil plant assemblage from the Lower Siwalik deposits indicates warm and humid climate with plenty of rainfall in the region during the depositional period. [ABSTRACT FROM AUTHOR]

The article offers information on the association of gene polymorphism with insulin resistance in a north Indian population. Topics discussed include genetic association of ENPP1/PC-1 K121Q polymorphism with obesity, homeostasis model assessment, and statistical analysis of alleles. Also present a table depicting clinical characteristics of study participants.

Introduction: Oropharyngeal candidiasis (OPC) is the most common opportunistic fungal infection reported in human immunodeficiency virus (HIV) positive patients worldwide. This prospective study was undertaken to investigate OPC and Candida colonization (CC) and their correlation with CD4+ cell counts and antiretroviral therapy (ART) in HIV-positive patients. Methodology: In total, 190 HIV-positive patients were enrolled for study in three groups as follows: Group A, 90 patients without ART; Group B, 100 patients undergoing treatment with ART; and Group C, 75 HIV-negative control patients. All HIV patients underwent clinical examination and were subjected to CD4+ cell counts. Swabs were collected from the oral cavity of all individuals and plated on Sabouraud's dextrose agar. Identification of Candida species was performed by conventional methods. Results: Candida species were isolated in 84/190 (44.2%) and 20/75 (26.6%) of the HIV-positive subjects and controls respectively (p<0.01). OPC was noted in 21/190 (11%) of the HIV-positive patients. Candida albicans was the most frequently isolated species. Patients with CD4+ cell counts ≤ 200 cells/mm³ were significantly (p<0.001) more frequently colonized (37/63; 58.7%) and infected (18/21; 85.7 %) with Candida species. Candida species was seen in patients with CC and OPC with CD4+cell counts between 201 and 500 (21/63; 33.4% vs 3/21; 14.3%) and > 500 cell/mm³ (5/63; 7.9% versus 0/21 0%) respectively. Conclusion: OPC and Candida colonization occur more frequently in HIV-positive patients with CD4+ cell counts ≤200 cell/mm³. ART significantly reduces OPC. C. albicans is the most frequently isolated species in both OPC and colonization, suggesting endogenous infection. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Matrix metalloproteinases (MMPs) are expressed in melanocytes and their overexpression has been linked to tumor development, progression, and metastasis. At the genetic level, following functional promoter polymorphisms are known to modify the gene transcription: −1306 C > T, −735 C > T in MMP2, and 799 C > T in MMP8 gene. Hence we hypothesize that functional polymorphisms in the 2 MMP SNPs in promoter region may modulate the risk for bladder cancer (BC) progression in North Indian population. Materials and methods: Genotyping for these polymorphisms were done in a group of 200 BC and 200 age matched, similar ethnicity unrelated healthy controls using PCR-based methods. Two-sided χ2, Cox-regression was utilized to evaluate the associations between genotype and various clinical and epidemiologic factors. Multivariate analyses were conducted using logistic regression, adjusting for known BC confounders such as age and gender. Survival analysis was done using the Kaplan-Meier method and differences in survival were assessed using the log rank test. Results: Individuals with MMP2 (−1306) TT genotype as well as T allele were at higher risk of BC (P, 0.042; OR, 2.85; P, 0.001; OR, 1.76). This effect was even more apparent in case of CT+TT (P < 0.001; OR, 2.61). In MMP2 (735), CT+TT demonstrated significant risk (P, 0.034; OR, 1.66). In MMP8 (799), reduced risk was observed with TT genotype (P, 0.006; OR, 0.27). Haplotype analysis showed that individuals with haplotype 735C-1306T and 735T-1306C were at 1.9- and 1.5-fold higher risk. MMP2 −1306CC in combination with MMP8 799CT genotype showed protective effect. The genotype CT and CT+TT of MMP2 1306C > T were associated with high risk of recurrence in BCG treated patients (HR, 4.32; P, 0.006 and HR, 2.06; P, 0.047) thus showing reduced recurrence free survival (CT+TT/CC = 34/45 months; log rank P, 0.039). Conclusion: Our data suggested that variant allele of MMP2 1306C > T was associated with high risk of tumor recurrence and reduced recurrence free survival in superficial BC patients. [Copyright &y& Elsevier]

Background and Aims: Impairment of the immune system may contribute to the risk for having cancer as Toll-like receptors are important for innate immunity. We examined the association between candidate disease-susceptibility polymorphisms in the single nucleotide polymorphism (SNPs) like TLR2 (−196 to−174del), TLR3 (C1377T), TLR4 (Thr399Ile) and TLR9 (G2848A) genes in patients with bladder cancer in a North Indian population. Methods: SNPs were comprised of TLR2 (−196 to −174 Del), TLR3(C1377T), TLR4 (Thr399Ile) and TLR9 (G2848A) genes. Allelic and genotypic frequencies of these TLRs SNP from histopathologically confirmed patients of bladder cancer (n = 200) and unrelated healthy controls of similar ethnicity (n = 200) were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. Results: In TLR2 I/D gene polymorphism, the combination of ID+DD showed a significant 3-fold increased risk (p = 0.001). TLR2 with heterozygous genotype ID showed a 3-fold risk and combination of heterozygous and variant genotype (ID+DD) also showed a 5-fold risk with tumor stage/grade of patients with bladder cancer. The other genotypes of TLR3, 4 and 9 did not exhibit any significant association with bladder cancer risk. Conclusions: Our results suggested the involvement of TLR2 (−196 to−174 del) in bladder cancer susceptibility; however, TLR3, 4 and 9 genes were not associated with risk of bladder cancer, implicating that polymorphisms in these tested TLRs genes are not likely to be associated with increased risk for developing bladder cancer. Functional studies in ethnically diverse populations may provide a more comprehensive involvement of innate immunity in identifying the disease-associated variants for the etiology of bladder cancer. [Copyright &y& Elsevier]

Radon is a radioactive hazardous and ubiquitous gas. It has been recognized to be one of the major contributors to natural radiation even causing lung cancer if present at enhanced levels. There are large variations in data available in the literature for radium content and radon exhalation rates of various materials. It is a well-documented fact that radon exhalation from the ground surface depends upon a number of parameters such as soil grain size, soil porosity and radium content. For this purpose, in this study the so-called can technique has been used to measure radium content and exhalation rates of radon in soil samples collected from different places of Aligarh, Etah and Mathura districts of Uttar Pradesh-a province in northern India. These districts lie within the subtropical region of the Indo-Gangetic plains. The values of effective radium content are found to vary from 8.11 to 112.83 Bq kg with a mean value of 33.21 Bq kg and a standard deviation of 28.15. The values of mass exhalation rates of radon vary from 0.76 × 10 to 15.80 × 10 Bq kg day with a mean value of 4.21 × 10 Bq kg day, while the surface exhalation rates vary from 1.97 × 10 to 41.03 × 10 Bq m day with a mean value of 10.93 × 10 Bq m day. [ABSTRACT FROM AUTHOR]

Abstract: We aimed to study the voice profiles of patients with Parkinson’s disease (PD) and correlate the profiles with disease severity. A total of 133 patients with PD were recruited. Patients were divided into two groups: Group 1 with a Unified Parkinson’s Disease Rating Scale (UPDRS) score of ⩽45; and Group 2 with a UPDRS >45. Speech was analyzed using the Indian Speech and Hearing Association (ISHA) articulation assessment and Vaghmi software. A total of 87 patients (65.41%) reported a history of speech problems. Examination revealed slow reading speed (64.7% of patients), hoarseness of voice (60.2%), articulatory defect (39.8%) and jerky speech (32.3%) as common abnormalities. Misarticulation was most often observed among the labial (42.1%), followed by lingual and palatal syllables. The ISHA articulation test demonstrated significant differences in mean numbers of words distorted (p <0.001) and intelligible speech (p =0.004) between patients with early and advanced PD. Vaghmi software analysis (Speech and Voice Systems, Bangalore, India) also revealed significant difference between the two groups in maximum phonation duration (p =0.034), inability to phonate (noiseless speech, Z; p =0.002) and the mean noise-to-noiseless speech (S/Z) ratio (p =0.006). [Copyright &y& Elsevier]

Objectives: The worldwide increasing prevalence of obesity is considered as a major health problem. Peroxisome proliferator-activated receptor gamma ( PPAR-γ) controls adipocyte differentiation and regulates a number of genes associated with energy homeostasis. In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs3856806) polymorphisms with morbid obesity and related phenotypes, in north Indian population. Methods: A total of 6,42 subjects, 309, obese and 333 nonobese individuals were included in this case-control study. Insulin, adiponectin, glucose, and lipid levels were estimated using standard protocols. All subjects were genotyped by PCR restriction fragment length polymorphism (PCR-RFLP) method. Results: The ProAla+AlaAla genotypes of PPAR-γ Pro12Ala were significantly associated with higher risk of obesity while C1431T polymorphism did not show any significant association. None of the haplotypes showed association with morbid obesity. However, a strong association of variant genotypes was observed with higher levels of insulin, HOMA-IR, and lower serum adiponectin concentrations. Conclusion: PPAR-γ gene polymorphisms influence obesity and obesity phenotype in a complex manner, probably involving insulin resistance in north Indian population. Am. J. Hum. Biol., 2012. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Srivastava P, Singh A, Kesarwani P, Jaiswal PK, Singh V, Mittal RD. Association studies of Toll-like receptor gene polymorphisms with allograft survival in renal transplant recipients of North India. Abstract: Organ transplantation itself inevitably activates the innate immune system by Toll-like receptors (TLRs), potentially leading to allograft rejection and graft failure. We evaluated the possible association of TLR2, TLR3, and TLR9 polymorphisms of donor-recipient pairs and acute rejection in renal transplant patients of North India. TLR2 (−196 to −174 del), TLR3 (c.1377C/T; rs 3775290), and TLR9 (+2848 G/A; rs 352140) were genotyped using DNA samples from 200 donor-recipient pairs of live donor kidney transplantation by applying Restriction Fragment Length Polymorphism (RFLP) methodology. The variant allele frequency of TLR2 (−196 to −174 del) was significantly different between recipients and donors (7.5% vs. 5.0%; p = 0.049; OR = 3.9; 95%CI = 1.01-15.32). However, no significant association for allograft rejection was observed in transplant recipients for TLR3 and TLR9. Interestingly, a low prevalence of AA genotype of TLR9 + 2848 G>A was observed in rejecters when compared with non-rejecters, demonstrating protective association with allograft rejection (OR = 0.30, 95% CI = 0.12-0.88, p = 0.028). An allele in patients was also observed to be associated with higher rejection-free survival (log-rank = 0.044). These TLR gene polymorphisms, upon further evaluation, may be helpful in elucidation of immunobiological mechanisms associated with renal graft rejection. [ABSTRACT FROM AUTHOR]

Objective: To evaluate correlation of Alberta Stroke Program Early CT Score (ASPECTS) and early and delay outcome measures among acute anterior ischemic stroke patients who presented within 48 hours of stroke onset. Methods: In a prospective cohort study, we recruited consecutive patients with acute middle cerebral artery (MCA) ischemic stroke who presented within 48 hours of stroke onset. All the patients were evaluated at admission (Glasgow Coma Scale - GCS and National Institute of Health Stroke Scale - NIHSS) at discharge (GCS, NIHSS, Barthel Index - BI and modified Rankin Scale - mRS) and at 3 months (BI and mRS). CT ASPECTS was calculated by two observers independently. We divided patients in to two groups with 'Better' and 'Worse' ASPECTS with score of 8-10 and 0-7 respectively and compared the primary and secondary stroke outcome measures. Results: Among 100 patients with acute MCA infarction (median age 55 yrs, 62 males), median ASPECTS scores had inter-rater reliability of 0.82. The mortality, GCS and NIHSS at discharge, and mRS and BI at 3 months are significantly better among patients with 'Better' compared to 'Worse' APSECTS. The hospital stay was shorter in patients with Better ASPCTS. Conclusion: In the setting of acute ischemic stroke, ASPECTS has good correlation with severity of stroke, and is strong predictor of early and delayed outcome in acute ischemic stroke. [ABSTRACT FROM AUTHOR]

Background: The current study was undertaken to estimate the delay in vaccination for National Immunization Schedule vaccines in under-five children and explore causes for this delay.Methods: The study was carried out in Ballabgarh Health and Demographic Surveillance Site in Northern India. It is a secondary data set-based study of children born between 1991 and 2004. Causes for delay in vaccination were explored by informal discussions.Results: Total of 25 517 children were included in the analysis. Vaccination coverage at 1 year of age was high for all National immunization schedule vaccines (78.7% for measles to 97.4% for OPV-1). Children for delayed vaccination ranged from 15.9% (95% CI 15.4–16.3) for OPV booster to 83.5% (95% CI 83.1–83.9) for OPV-3. Non-availability of children was identified as important determinants of the delay.Conclusions: We conclude that focus on ‘quantity’ in vaccination (high vaccination coverage) needs to be supplemented with quality of vaccination (in-time vaccination). [ABSTRACT FROM AUTHOR]

Objective: The prevalence of dementia in northern India is among the lowest in the world but reasons are unclear. The aim of the study was to evaluate the risk and protective factors for dementia in North India. Methods: In a case–control study, we investigated demographic, medical, genetic, dietary, lifestyle, and sociocultural protective and risk factors associated with dementia. Results: 150 patients of dementia (118 males and 32 females) and 150 healthy controls (112 males and 38 females) were included in the study. Diabetes, depression, hyperhomocysteinemia, hyperlipidemia, APOE ε4 gene, BMI, use of saturated fatty acids, pickles in diet, urban living, and lack of exercise were associated with independent risk of dementia. Various dietary factors and sociocultural factors, like cognitively stimulating activities, active socialization, living in joint families, increased intake of polyunsaturated fats, fruits, and salads conferred protection against dementia. Conclusions: Dietary, lifestyle, and sociocultural interventions may be protective against dementia. [ABSTRACT FROM AUTHOR]

Background and Aims: The importance of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in tumor progression is well documented. MMP2/TIMP2 system has a significant impact on the development and progression of cancer and genetic polymorphisms in the promoters of MMP2 (−1306C/T, 735C/T) and TIMP2 (−418G/A, −303C/T) are correlated with decreased enzyme activity. We sought to determine whether genetic polymorphisms in MMP2 and TIMP2 polymorphisms may be associated with varying risk of prostate cancer (PCa) in men in North India. Methods: Genotyping was done by PCR-restriction fragment length polymorphism method in 190 histologically confirmed PCa patients and 200 unrelated, healthy, age-matched individuals of similar ethnicity. Results: Patients with MMP2 (-1306) CT genotype as well as T allele were at higher risk of PCa (p = 0.018; OR = 1.68 and p = 0.015; OR = 1.52). This effect was even more evident in the case of the T allele carrier (CT + TT) (p = 0.011; OR = 1.71). MMP2 (735) C>T, TIMP2 (−418) G>C and TIMP2 (−303) C>T polymorphism demonstrated no association. However, TIMP2 (−418) GC was found to be involved in progression of PCa but not in initiation. Haplotype results demonstrated that MMP2 (1306T–735C) and TIMP2 (418G-303T) were associated with a 1.5- and 1.8-fold increased risk, respectively. Conclusions: Our data indicated that MMP2-1306C>T gene polymorphism contributes to PCa susceptibility. These findings suggested MMP2 variants as a predictor of PCa progression risk among North Indian men. We assume that analysis of these gene polymorphisms can help identify patient subgroups at high risk of poor disease outcome. [ABSTRACT FROM AUTHOR]

Summary: Neurocysticercosis (NCC) is the most frequent parasitic infection of the central nervous system caused by the larvae of Taenia solium. The prevalence of NCC is obscured due to variations in the methods used for epidemiological studies and often asymptomatic manifestation. The present study was conducted on 595 apparently healthy individuals belonging to the pig farming community of northern India to estimate the prevalence of asymptomatic NCC and to evaluate risk factors based on questionnaires. Diagnosis of NCC was based on neuroimaging, immunological and epidemiological criteria. Asymptomatic NCC was detected in 90 (15.1%) of 595 individuals. The evaluation of risk factors showed that age >15 years (P = 0.001), intake of raw vegetables (P = 0.025) and undercooked pork (P = 0.005), lack of safe drinking water (P = 0.003), inadequate drainage system (P = 0.049), no separate place for pigs (P ≤0.001), NCC related active epilepsy in the family (P ≤0.001) were significantly associated with asymptomatic NCC. The present study shows high prevalence of asymptomatic NCC in pig farming community of northern India. Further, asymptomatic NCC is associated with most variables of poor socio-economic parameters. [ABSTRACT FROM AUTHOR]

Increased vascular endothelial growth factor (VEGF) production promotes enhanced endothelial permeability, enhanced leukocyte migration into the allograft, thereby leading to a clinically recognized rejection episode. Interleukin-18 (IL-18), a potent proinflammatory cytokine, may also be involved in mechanisms of kidney allograft rejection. The present study was, therefore, undertaken to investigate the association of functional polymorphisms in VEGF (2578C>A, 1154A>G) and IL-18 (607C>A, 137G>C) genes with risk of allograft rejection in renal transplant recipients of North India. Two hundred renal transplant recipients, 150 matched recipients-donors, and 200 unrelated healthy individuals were genotyped by amplification refractory mutation specific polymerase chain reaction and by polymerase chain reaction-restriction fragment length polymorphism. Variant allele VEGF 1154A>G ( p = 0.56; odds ratio [OR] = 1.32) and variant allele ( p = 0.004, OR = 1.54) and variant genotype ( p = 0.007, OR = 3.26) of IL-18 607C>A, GC of IL-18 137G>C ( p = 0.043, OR = 0.63) were significantly different in healthy individuals as compared with the patients with renal transplant. When 114 nonrejectors were compared with 36 rejectors (150 recipients) for association with allograft rejection, significant association was observed in heterozygous genotype of VEGF 2578C>A ( p = 0.033), VEGF 1154A>G ( p = 0.024). In IL-18 137G>C, CC genotype, C allele showed protective association with allograft rejection. Kaplan-Meier analysis indicated a higher mean time for first rejection episode in CA genotype carriers (31 months) as compared with AA (29 months) for VEGF 2578C>A (log p = 0.035). In VEGF, the haplotypes A-A and A-G (2578-1154) were associated with reduced risk and in IL-18 607A-137G, they were associated with high risk for allograft rejection. This observation suggests these polymorphisms are an ideal marker for prediction of pretransplant allograft outcome. [ABSTRACT FROM AUTHOR]

There is a paucity of data on the prevalence of elevated homocysteine and its relation with plasma folate and the methylenetetrahydrofolate reductase ( MTHFR) gene in the population of North India. This study evaluates MTHFR gene polymorphism and its relationship with plasma homocysteine and folate levels in a healthy North Indian population. The age of the 200 subjects included in this study was in the range 18–73 (mean 39.4) years. The plasma homocysteine level was elevated in 56.5%, and the plasma folate level was low in 49.5% of the subjects. Heterozygous MTHFR gene polymorphism (CT) was present in 15.5%, and homozygous (TT) in 3.5% of the subjects. Age, diet, and MTHFR gene polymorphisms were related to homocysteine level. All the subjects with the TT and 79% with the CT genotype had a high level of plasma homocysteine, whereas 51% with the CC genotype had a high homocysteine level. After adjustment for the effect of covariates, however, homocysteine was not related to MTHFR gene polymorphism. [ABSTRACT FROM AUTHOR]

Objective: To study the clinical profile and mutation spectrum of Hunter syndrome. Methods: Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history Results: Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation. Point mutations were identified in all the 9 families for whom mutation analysis was done. Among 4 mothers tested from families without any family history, 2 (50%) were found to be carriers. Conclusion: Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome. [ABSTRACT FROM AUTHOR]

The article discusses the findings of a study which examined the awareness, knowledge, attitudes, and practices of women related to emergency contraception in North India. The study included 458 women who attended the antenatal clinic, family planning clinic and post-partum clinic at a teaching hospital in the country. It found that 66.4% of respondents practiced contraception and heard about pills for contraceptive failure. It revealed that women believed the importance of the availability of emergency contraception to both married and unmarried young girls. It showed that women preferred to use postcoital pills than intrauterine device. It presents tables that depict the results of the study.

Objective: To investigate the incidence of Nosocomial Infection (NI) and type of bacteriological isolates among the patients admitted in the medical and surgical wards of a non-teaching secondary care hospital in north India. Materials and Methods: This was a cross-sectional hospital based study conducted in the Wards of General Medicine, General Surgery and Orthopaedic of the hospital. The patient were admitted in the department for various surgical procedures, without evidence of initial infection, were included in the study. Results: A total of 176 patients were included in the study of which 82 were from Medical and 94 from Surgical ward. Overall incidence of NI was found to be 26.1% (Medical ward=28%, Surgical ward=24.5%., p=0.58). The isolation rate of Acinetobacter baumanii was (p=0.15) higher among the patients of medical ward (95.7%) than surgical ward (82.6). Escherichia coli was isolated in 89.1% and no significant difference was observed between medical and surgical wards. Klebsiella pneumoniae was isolated in 50% patients and was almost similar (p=0.37) in medical surgical wards. The isolation rate of Pseudomonos aeruginosa, Enterococcus faecalis, Staphylococcus aureus and Coagulase negative staphylococci were 43.5%, 73.9%, 34.8% and 17.4% respectively. A significant difference was observed in the isolation rate of Enterococcus faecalis (p=0.007) and Coagulase negative staphylococci (p=0.002) between medical and surgical wards. Overall, among the patients who developed NI, 27.2% patient's bacterial isolates were Gram positive (Surgical=64.1, Medical=80%). Conclusion: The incidence of NI is increasing in the hospitals, so extensive that more care has to be taken in cleaning the wards of the hospitals. [ABSTRACT FROM AUTHOR]

Background Pesticide sprayers in North India use different application methods for different crops.Aims To compare cholinesterase activity and symptoms in knapsack and tractor-mounted pesticide sprayers.Methods Blood cholinesterase activity and symptoms were recorded for 42 knapsack and 66 tractor-mounted sprayers attending a health camp in North India in 2009 and for 30 controls.Results One hundred and eight of 197 (55%) eligible sprayers consented to participate. Mean acetylcholinesterase (AChE) and butyrylcholinesterase activity was 33 and 60% lower, respectively, in knapsack sprayers than in controls (P < 0.001) and 56 and 62% lower, respectively, in tractor-mounted sprayers than in controls (P < 0.001). AChE depletion was greater in tractor-mounted sprayers than in knapsack sprayers (P < 0.001). In knapsack sprayers compared to controls, odds ratios (OR) were significantly raised for musculoskeletal symptoms (OR 3.9, 95% CI 1.03–18) but not for other symptoms. In tractor-mounted sprayers compared to controls, ORs were significantly raised for neurological (OR 7, 95% CI 2–23), ocular (OR 8.7, 95% CI 2.7–32), respiratory (OR 5.14, 95% CI 1–29), cardiovascular (OR 7.5, 95% CI 2–42), gastrointestinal (OR 5.43, 95% CI 2–18) and musculoskeletal (OR 6.12, 95% CI 2–26) symptoms but not for dermal symptoms (OR 1.93, 95% CI 0.3–20).Conclusions The risk of cholinesterase inhibition and symptoms is greater in tractor-mounted than in knapsack pesticide sprayers and in both groups compared to controls. Occupational exposure in pesticide sprayers in North India needs better control, perhaps through redesign of spraying equipment. [ABSTRACT FROM PUBLISHER]

Abstract: Objective(s): Targeting the Toll-like receptor (TLR) signaling pathway in elucidating the cellular and molecular mechanisms of human diseases, including cervical cancer, is gaining tremendous importance. The aim of our study was to identify the role of TLR 2(−196 to −174 del) and TLR 4(Asp299Gly and Thr399Ile) gene polymorphisms in cervical cancer susceptibility in North Indian women. Methods: For the study, blood samples were collected from histopathologically confirmed patients of cervical cancer (n =150) and unrelated, healthy female controls of similar ethnicity (n =150). Genomic DNA was extracted from peripheral blood leukocytes using salting-out method. TLR 2 and TLR 4 genotyping was done using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism followed by 10% polyacrylamide gel electrophoresis. Results: TLR 2 del allele showed significant association (p =0.048, OR=1.6 [95%CI=1.00–2.51]) with cervical cancer susceptibility, while no significant association was found with TLR 4 (Asp299Gly and Thr399Ile). However, TLR 4 Thr/Ile genotype was found to be significantly associated with early stage (Stage II) of cervical cancer (p =0.044, OR=2.51 [95%CI=1.03–6.12]). Furthermore, TLR 2 ins/del genotype showed strong association (p =0.015, OR=1.95 [95%CI=1.14–3.33]) with tobacco usage in women with cervical cancer. Conclusion(s): Our study highlighted the involvement of TLR 2 (−196 to −174 del) and TLR 4 (Thr399Ile) gene polymorphisms in cervical cancer susceptibility. The TLR gene polymorphisms, upon further evaluation, may be helpful in elucidation of immunobiological mechanisms associated with cervical cancer susceptibility. [Copyright &y& Elsevier]

Background:Global Burden of Disease Study 2010 demonstrates the impact of musculoskeletal diseases as the second greatest cause of disability globally in all regions of the world. The study was conducted to determine the role of mathematically derived body volume (BV), body volume index (BVI), body mass index (BMI), body surface area (BSA) and body fat % (BF %) on musculoskeletal pain (MSP) among housewives in National Capital Region (NCR). Methods:A cross sectional study was undertaken among 495 housewives from Gurgaon and New Okhla Industrial Development Area (NOIDA) in National Capital Region (NCR), New Delhi, India. The study includes questionnaire survey, clinical examination and body composition monitoring among housewives. Results:A significantly higher BMI, BVI, BV and BSA were observed in subjects with MSP as compared to those who had no MSP. This was also true for subjects with pain in knee for BMI category for overweight. Subjects with pain in limbs had significantly high BMI and BVI as compared to subjects with no MSP. A significant positive correlation of age with BMI, BVI, BV and BSA was observed among subjects having no MSP denoting a direct relationship of age and these body factors. Conclusions:The prevalence of MSP among housewives is associated with increasing age, BMI and BVI. This can possibly be used for formulating a strategy for prevention of MSP. [ABSTRACT FROM AUTHOR]

Abstract: Objective: The present study deals with the in vitro study of antioxidant activity of essential oil from Palmarosa (Cymbopogon martini) of family gramineae. Methods: The in vitro study of antioxidant activity of Palmarosa essential oil has been done by using DPPH assay, Nitrogen oxide assay, reducing power assay, β-carotene bleaching assay and FRAP method. Results: IC50 values observed for DPPH and NO assay were 0.125 mg/mL and 12.5 μg/mL, respectively. In beta carotene bleaching method, the oil showed 93.15% bleaching for the first hour and it increased to 51.1% in second hour. There was a constant increase in the reducing activities with the increase in concentrations in both reducing activity and FRAP mehods. In all the methods BHT and Gallic acid were kept as standards. Conclusions: The results clearly indicate that Palmarosa essential oil is effective in scavanging free radical and has the potential to be powerful antioxidant. [Copyright &y& Elsevier]

Objective: The purpose of this study was to assess the efficacy and safety of mifepristone as a contraceptive pill. Study Design: A prospective case-control study was conducted in a tertiary care center of North India. The study group (n = 86) was given 200-mg mifepristone tablets on the 16th day of the menstrual cycle. The control group (n = 92) received combined oral contraceptive (COC) as per protocol. Subjects were followed for drug compliance, satisfaction, side effects, and failure. Results: Acceptability of mifepristone was significantly higher in educated population (P < .001), with fewer side effects (P = .001), good satisfaction (P < .001), and higher compliance rate (P = .05). The oral contraceptive pill group had higher adverse biochemical parameters. Conclusion: Mifepristone can be used as a monthly contraceptive pill effectively. [Copyright &y& Elsevier]

Heterogeneous vancomycin intermediate Staphylococcus aureus (hVISA) strains are increasingly reported, and their association with vancomycin treatment failure is a well-known problem worldwide. A total of 500 clinical isolates of methicillin-resistant S. aureus were screened for hVISA by four different methods from May 2011 to May 2014. The number of strains screened for hVISA from May to April in 2011-2012, 2012-2013, and 2013-2014 were 198, 123, and 179, respectively. hVISA strains were studied by transmission electron microscopy (TEM) for cell wall thickness and also for their ability to form biofilm on a polystyrene microtiter plate. hVISA strains detected by four different methods-brain heart infusion agar with vancomycin with 4 mg/L/gradient plate/macro E-test/and glycopeptide resistance detection (GRD) E test-were as follows: 11.6%/10%/9%, and 9.5% in 2011-2012, 12.1%/9.7%/8.9%, and 10.5% in 2012-2013, and 13.9%/11.7%/11.1%, and 12.8% in 2013-2014, respectively. Population analysis profile-area under curve analysis confirmed hVISA in 4.5% (9/198), 6.5% (8/123), and 6.7% (12/179) in respective years; 24% (7/29) of hVISA isolates were nonsusceptible to daptomycin. TEM showed a significant increase in cell wall thickness of hVISA isolates ( p<0.001) with a distinct reduction in their biofilm formation ability. [ABSTRACT FROM AUTHOR]

Schizophrenia is a severe psychiatric disorder with lifetime prevalence of ~ 1% worldwide. A genotyping study was conducted using a custom panel of Illumina 1536 SNPs in 840 schizophrenia cases and 876 controls (351 patients and 385 controls from North India; and 436 patients, 401 controls and 143 familial samples with 53 probands containing 37 complete and 16 incomplete trios from South India). Meta-analysis of this population of Indo-European and Dravidian ancestry identified three strongly associated variants with schizophrenia: STT3A (rs548181, p = 1.47 × 10 − 5 ), NRG1 (rs17603876, p = 8.66 × 10 − 5 ) and GRM7 (rs3864075, p = 4.06 × 10 − 3 ). Finally, a meta-analysis was conducted comparing our data with data from the Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ) that supported rs548181 ( p = 1.39 × 10 − 7 ). In addition, combined analysis of sporadic case–control association and a transmission disequilibrium test in familial samples from South Indian population identified three associations: rs1062613 ( p = 3.12 × 10 − 3 ), a functional promoter variant of HTR3A ; rs6710782 ( p = 3.50 × 10 − 3 ), an intronic variant of ERBB4 ; and rs891903 ( p = 1.05 × 10 − 2 ), an intronic variant of EBF1 . The results support the risk variants observed in the earlier published work and suggest a potential role of neurodevelopmental genes in the schizophrenia pathogenesis. [ABSTRACT FROM AUTHOR]

Background & Objective: Transthyretin (TTR) has been associated with spinocerebellar ataxia (SCA) by several independent case reports. Coexistence of TTR and SCA mutations, overlapping clinical symptoms as well as altered levels of TTR in SCA patients suggest a correlation between TTR and SCA. To our knowledge, no large cohort based study has been attempted to examine the association of SCA with polymorphism in TTR gene. Here, we chose to investigate TTR variations in SCA patients (n=266) and controls (n=192) of North Indian ethnicity. Methods: We sequenced the exons including exon-intron boundaries of TTR gene in 55 patients and 55 controls. We observed four variations which were further genotyped by single base extension method (SNaPshot) in a larger cohort (SCA patients n=211 and controls n=137). Results: A novel synonymous variation c.372 C>G in exon 4 was detected in heterozygous condition in one control sample. We found nominal association for rs1800458 (Gly6Ser), with SCA (p-value < 0.05) which did not remain after Bonferroni correction for multiple tests. Pairwise linkage disequilibrium (LD) analysis revealed no LD between studied SNPs. Further, we employed two-marker sliding window analysis and observed a weak association of haplotype AT of rs1800458 and rs1667251 with SCA patients (p-value <0.05) which was not retained after Bonferroni correction. Conclusion: Our data suggests no association of genetic variations of TTR in SCA pathology. [ABSTRACT FROM AUTHOR]

Abstract: Background: Tumour necrosis factor alpha is a multifunctional proinflammatory cytokine involved in the pathogenesis of metabolic syndrome, insulin resistance, and obesity. Aim of this study is to investigate in a North Indian female population the impact of the G-308A TNF-α variant on various components of the metabolic syndrome, Insulin Resistance, serum TNF-α and Leptin levels. Methods: The G-308A TNF-α polymorphism has been studied in 269 females with metabolic syndrome (NCEP ATP III criteria) (age 31.91±6.05) and 272 healthy females without metabolic syndrome (age 30.96±7.01). The G-308A variant was detected by PCR amplification and Nco-1 digestion. Results: Homozygous mutant genotype (AA) (p=<0.001: OR=3.24: 95% CI=2.15–4.89) and mutant allele (A) (p=<0.001: OR=3.04: 95% CI=2.08–4.43) of TNF-α was significantly less frequently observed in the control population as compared to study group. Furthermore, on dividing the subjects into two groups according to the absence (TNF-1 allele) or presence of the mutant A (TNF-2) allele, significant results were obtained in most of the metabolic risk factors. Conclusions: Our results suggest that the G-308A polymorphism of the TNF-α gene may be independently associated with hypertension, leptin level and hypercholesterolemia leading to metabolic syndrome independent of Insulin resistance and hyperglycemia. [Copyright &y& Elsevier]