Assessment of FTO Gene Polymorphism and its Association with Type 2 Diabetes Mellitus in North Indian Populations.

FTO gene polymorphism related to type 2 diabetes and obesity was studied in this north Indian population. This study was done, due to a continuous increase in the risk of obesity and type 2 diabetes in north Indian population, because of lifestyle and genetic variations. Clinically diagnosed subjects of type 2 diabetes mellitus (as per ADA criteria) were taken as cases and age and sex matched subjects without any associated illness were taken as controls. Obesity was estimated by calculating waist circumference and BMI in the study cases and controls. For genetic variation, DNA was isolated with Quaigen kit method and isolated DNA was amplified with PCR. Amplified DNA was resolved in 1% agarose gel electrophoresis. The Hardy-Weinberg equilibrium, OR, CI and P value were calculated using standard protocols. FTO gene polymorphism (SNP 9940128) was found to be significantly correlated with type 2 diabetes mellitus and obesity. The AG genotype frequency was observed to be higher (13.09%) with (P < 0.0001) in the cases as compared to controls. Logistic regression analysis was conducted for AG and GG genotypes with respect to AA. In this novel study genetic co-relation was observed between FTO gene polymorphisms and type 2 diabetes and obesity in the north Indian population.

A rare case of mucopolysaccharidosis.

Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio's disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results.

Use of first line antiretroviral therapy from a free ART programme clinic in Pune, India - a preliminary report.

BACKGROUND & OBJECTIVES: The treatment outcomes under national antiretroviral therapy (ART) programme are being evaluated in some ART centres in the country. We carried out this study to analyze the impact of first line antiretroviral therapy in HIV infected patients attending a free ART roll out national programme clinic in Pune, India. METHODS: Antiretroviral naive HIV infected patients attending the clinic between December 2005 and April 2008 and followed up till March 31, 2011 were included in the analysis. The enrolment and follow up of these patients were done as per the national guidelines. Viral load estimations were done in a subset of patients. results: One hundred and forty two patients with median CD4 count of 109 cells/µl (IQR: 60-160) were initiated on treatment. The median follow up was 44 months (IQR: 37-53.3 months). Survival analysis showed that the probability of being alive at the end of 5 years was 85 per cent. Overall increase in the median CD4 count was statistically significant (P<0.001). It was significant in patients with >95 per cent adherence (P<0.001). In 14 per cent patients, the absolute CD4 count did not increase by 100 or more cells/µl at the end of 12 months. Viral load estimation in a subset of 68 patients showed undetectable levels in 61 (89.7%) patients after a median duration of 46 months (IQR: 38.3-54.8). INTERPRETATION & CONCLUSIONS: The first line treatment was effective in patients attending the programme clinic. The adherence level influenced immunological and virological outcomes of patients.

Angiotensin Converting Enzyme Gene Polymorphism and its Association with Hypertension in South Indian Population.

Hypertension, a well known risk factor for various cardiovascular, peripheral vascular and renal events is an important public health challenge. Renin angiotensin system (RAS) being the most vital pathogenic mechanism of hypertension is mediated by a key component; the angiotensin converting enzyme (ACE). The present study was aimed to know the relationship of ACE gene polymorphism and the possible risk of development of hypertension in south Indian population. The study included 101 clinically diagnosed hypertensive patients without any associated disease condition and 81 age and sex matched apparently healthy controls. Genotyping was performed using a polymerase chain reaction, (PCR) amplification of the intron 16 fragment harboring the 287 bp Alu repeat sequence. Three possible genotypes D/D, I/I homozygous and I/D heterozygous were analyzed where the D/D genotypes corresponds to higher ACE levels (D-Deletion, I-Insertion). The PCR products were separated on 2 % agarose gel. Statistical analysis was performed using SPSS.15 software program. We found a significance in frequency of D/D genotype in the hypertensive patients compared to the control group (p = 0.0005, odd's ratio = 4.157). This suggested that ACE (D/D) genotypes are more prone for the development of hypertension. This is relatively a pilot study; but nevertheless may assist in identifying the pathophysiological cause of hypertension.

Mechanism of drug resistance in a clinical isolate of Vibrio fluvialis: involvement of multiple plasmids and integrons.

The role of mobile genetic elements in imparting multiple drug resistance to a clinical isolate of Vibrio fluvialis (BD146) was investigated. This isolate showed complete or intermediate resistance to all of the 14 antibiotics tested. Polymerase chain reaction (PCR) revealed the presence of a class 1 integron and the absence of the SXT element in this isolate. The strain harboured a 7.5 kb plasmid and a very low copy number plasmid of unknown molecular size. Transformation of Escherichia coli with plasmid(s) from BD146 generated two kinds of transformants, one that harboured both of these plasmids and the other that harboured only the low copy number plasmid. PCR and antibiogram analysis indicated the association of the class 1 integron with the low copy number plasmid, which also conferred all the transferable resistance traits except trimethoprim to the parent strain. A BLAST search with the sequence of the 7.5kb plasmid showed that it was 99% identical to plasmid pVN84 from Vibrio cholerae O1 in Vietnam, indicating that these two plasmids are probably one and the same. To the best of our knowledge, this is the first report of horizontal transfer of a plasmid between V. fluvialis and V. cholerae.