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Background: Steroid-resistant nephrotic syndrome (SRNS) is found in 10-20 % of children with idiopathic nephrotic syndrome (INS). In SRNS patients, common histopathological subtypes are Focal segmental glomerulosclerosis (FSGS) (53 %) and minimal change disease (MCD) (27 %). Familial forms of FSGS constitute podocyte diseases with varying severity and age of onset. Podocin gene ( NPHS2) mutations cause childhood-onset steroid-resistant FSGS and MCD to adult-onset FSGS. In view of genetic variations and susceptibility to the disease, the present investigation was undertaken to study the pattern of genetic mutation in children from South India. Methods: Mutation analysis was carried out by direct sequencing of the entire NPHS2 gene (eight exons) using specific primers in 200 INS (100 SRNS and 100 steroid sensitive) children and 100 healthy controls. The allele and genotype frequencies of NPHS2 gene were calculated for both cases and controls as per Hardy-Weinberg equilibrium. Results: Among the SRNS patients, 18 % revealed both heterozygous and homozygous mutations. Out of 12 mutations, 8 were homozygous and 4 were heterozygous. Interestingly, we found two novel SNPs in exon 4 of NPHS2 gene, which are documented and submitted to dbsnp database (Ref rs12401711 and rs12401708). Conclusion: Mutational analysis of NPHS2 would be advisable at the start of treatment. The genetic variations detected in the study would serve as the important molecular marker in treating the children's at early stage, which also enables to detect carriers, prenatal diagnosis and provide genetic counseling to couples at risk. [ABSTRACT FROM AUTHOR]

This study reports on the association of genetic variants selected from previous genome-wide association studies for type 2 diabetic nephropathy in south Indians. Eight variants were genotyped in 601 type 2 diabetic subjects without nephropathy (DM) and 583 type 2 diabetic subjects with nephropathy (DN) by MassARRAY. The minor allele frequencies of rs11643718 SLC12A3 variant and rs741301 ELMO1 variant were significantly different between DM and DN groups ( P = 0.029 and 0.016, respectively). A combined analysis showed that the subjects carrying the risk genotypes of both these variants (GG of rs11643718 + AG/AA of rs741301) had a significant association with DN with an odds ratio [adjusted for age, sex, Body Mass Index (BMI), HbA1c, and systolic Blood Pressure (BP)] of 1.73 (1.30-2.30, P = 1.72 × 10-4) as compared to subjects carrying all other genotype combinations. This is the first study to report a significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. [ABSTRACT FROM AUTHOR]

The ethnic variation in the GGN and CAG microsatellites of the androgen receptor (AR) gene suggests their role in the substantial racial difference in prostate cancer risk. Hence, we performed a case-control study to assess whether GGN repeats independently or in combination with CAG repeats were associated with prostate cancer risk in South Indian men. The repeat lengths of the AR gene determined by Gene scan analysis, revealed that men with GGN repeats ≤21 had no significant risk compared to those with >21 repeats (OR 0.91 at 95% CI-0.52–1.58). However, when CAG repeats of our earlier study was combined with the GGN repeat data, the cases exhibited significantly higher frequency of the haplotypes CAG ≤19/GGN ≤21 (OR-5.2 at 95% CI-2.17–12.48, P < 0.001) and CAG ≤19/GGN > 21(OR-6.9 at 95%CI-2.85–17.01, P < 0.001) compared to the controls. No significant association was observed between GGN repeats and prostate-specific antigen levels and the age at diagnosis. Although a trend of short GGN repeats length in high-grade was observed, it was not significant ( P = 0.09). Overall, our data reveals that specific GGN/CAG haplotypes (CAG ≤19/GGN ≤21 and CAG ≤19/GGN > 21) of AR gene increase the risk of prostate cancer and thus could serve as susceptibility marker for prostate cancer in South Indian men. [ABSTRACT FROM AUTHOR]

The transcription factor 7-like 2 ( TCF7L2) gene plays a significant role in the development of type 2 diabetes and diabetic nephropathy. The aim of this study was to investigate the association of TCF7L2 rs12255372 (G/T)polymorphism with type 2 diabetic nephropathy in the South Indian population. A total of 2102 subjects, 927 normal glucose tolerant (NGT) subjects, 598 type 2 diabetic subjects without nephropathy (DM), and 577 type 2 diabetic subjects with nephropathy (DN) were genotyped by MassARRAY. As compared to the NGT group, the odds ratio (adjusted for age, sex, BMI, HbA1c, and systolic BP) computed for the GT/TT genotype taking the GG genotype as reference was found to be 2.02 (95% CI: 1.16-3.51, p = 0.013) for DN and 1.94 (95% CI: 1.36-2.78, p = 0.0002) for DM. The genotype frequency was not significantly different between the DM and DN groups. In conclusion, the rs12255372 polymorphism in the TCF7L2 gene is associated with type 2 diabetes and DN but its association with DN is mediated through diabetes. [ABSTRACT FROM AUTHOR]

Objective: The objectives of this study were to determine the association between single nucleotide polymorphisms (SNPs) in IL1B (−511, +3954), IL1A (−889, +4845), and the variable number of tandem repeats (VNTRs) polymorphism in the IL-1RN gene with chronic periodontitis susceptibility and to analyze gene-gene interactions in a hospital-based sample population from South India. Subjects and Methods: A total of 400 individuals were recruited for this study; 200 individuals with healthy gingiva and 200 chronic periodontitis patients. Genomic DNA was isolated from peripheral blood samples and genotyping was performed for the above-mentioned single nucleotide and VNTR polymorphisms by polymerase chain reaction, DNA sequencing, and agarose gel electrophoresis. Results: A higher proportion of the variant alleles were observed in the chronic periodontitis group for all the SNPs examined. The SNP at +3954 (C>T) in the IL1B gene was found to be significantly associated with chronic periodontitis ( p=0.007). VNTR genotypes ( χ2 value: 5.163, df=1, p=0.023) and alleles ( χ2 value: 6.818, df=1, p=0.009) were found to have a significant association with chronic periodontitis susceptibility. Conclusion: In the study population examined, the SNP in the IL1B gene (+3954) and VNTR polymorphisms in the IL1RN gene were found to have a significant association with chronic periodontitis susceptibility. [ABSTRACT FROM AUTHOR]

Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 have been associated with autosomal recessive as well as dominant nonsyndromic hearing loss. Owing to the involvement of connexins in skin homeostasis, GJB2 mutations have also been associated with syndromic forms of hearing loss showing various skin manifestations. We report an assortatively mating hearing impaired family of south Indian origin with three affected members spread over two generations, having p.R75Q mutation in the GJB2 gene in the heterozygous condition. The inheritance pattern was autosomal dominant with mother and son being affected. Dermatological and histopathologic examinations showed absence of palmoplantar keratoderma. To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss. [ABSTRACT FROM AUTHOR]

Objective: To study the etiology, clinical presentation and outcome of infantile onset diabetes mellitus (IODM). Design: Descriptive cohort study. Retrospective study from 1999-2007 and prospective from 2008-2012. Setting: The diabetic clinic at a Pediatric tertiary care referral institute in Chennai. Methods: All infants diagnosed to have diabetes at less than one year of age were studied. Study variables were age at onset, gender, mode of presentation, birth weight, initial blood glucose, serum HbA1c, serum c-peptide levels, outcome at initial presentation, insulin requirement, associated co-morbid conditions, genetic analysis and outcome at the end of the study or until they were followed up. Results: 40 infants with infantile onset diabetes were studied, constituting 8% of all children with onset of DM at less than 12 years of age. 67.5% of these children presented with diabetic keto acidosis (DKA), only 30% had a provisional diagnosis of DM or DKA at first physician contact. 63% of IODM with onset less than 6 months and 30% with onset more than 6 months were of low birth weight. Nearly 85% of the study group had low C-peptide levels. 84.5% of IODM with onset less than 6 months and 55% of those with onset more than 6 months were monogenic. Wolcott Rallison syndrome was the commonest type encountered. Genetic diagnosis aided switching over from insulin to oral sulphonylurea in 5 children with KCNJ11 and ABCC8 mutations. Missed diagnosis, recurrent admissions for metabolic instability and developmental delay were common problems in IODM. Mortality at 12.5 year follow up was 32.5%. Conclusions: IODM with onset at less than 6 months is predominantly monogenic and low birth weight is more common. 55% of IODM were misdiagnosed at onset. Developmental delay is the common co morbid condition in IODM. Genetic diagnosis aids change of therapy to oral sulphonylurea. [ABSTRACT FROM AUTHOR]

Abstract: A 30-cluster survey using a modified WHO method was performed to assess the healthcare utilisation patterns for respiratory illnesses in Indian children<5 years of age. Families of 600 children were interviewed to assess respiratory illness and healthcare utilisation during the previous month as well as hypothetical healthcare-seeking behaviour in the future. Based on parental report, 381 children (63.5%) had experienced a respiratory illness 1 month prior to the interview; 10 children were reported to have had severe pneumonia, 49 non-severe pneumonia and 322 upper respiratory illnesses (URI), extrapolating to 0.20 (95% CI 0.1–0.4), 0.98 (0.7–1.3) and 6.44 (6.0–6.9) cases per child-year, respectively. Five severe pneumonia cases (50%) were reported to have directly accessed care at a secondary or tertiary care centre, whilst 18 children (36.7%) with non-severe pneumonia and 56 children (17.4%) with URI were reported to have been seen at secondary or tertiary centres. The remaining respiratory illnesses were reported to have been seen by primary care physicians, pharmacists, traditional healers and friends or were not seen by a healthcare professional. This community-based Indian study suggests that, in this community, tertiary care surveillance alone may not accurately sample community disease, even for severe illnesses. [Copyright &y& Elsevier]

The Indian Giant Squirrel Ratufa indica, an endemic species to India, is widely distributed from the evergreen to moist and dry deciduous forests of Western and Eastern Ghats and the central Indian hills. We studied its population distribution, activity, feeding, ranging and nesting behaviour across three major habitats in the tropical forests of Mudumalai Wildlife Sanctuary, southern India, during 1998-2000 to manage the species effectively. Extensive survey of the three major habitats-tropical moist, dry deciduous and dry thorn-in the sanctuary shows that its distribution is continuous in moist and dry deciduous forests with good canopy contiguity and patchy along riverine areas in dry thorn and dry deciduous forests with sparse trees and broken canopy. Density estimates using 55 direct sightings from 199 km line transects show a mean of 2.9 (± 0.313) squirrels/km². Daylight activity and feeding patterns assessed through 24,098 minutes of focal sampling reveal that animals feed and rest equal amounts of time. The diet constitutes seeds, bark, petioles, leaves and fruits from 25 plants, with Tectona grandis as the principal food source (41%). Its home range size varied from 0.8-1.7 ha with a mean of 1.3ha. Nesting characteristics assessed through 83 nests surveyed along 54km transects showed that the squirrel uses 15 of the 33 tree species found, with higher preference to Schleichera oleosa and Mangifera indica. Nest trees are significantly larger in height, gbh and canopy contiguity than nearest non-nest trees, which are attributed to better protection and escape from predators. Maintenance of diverse natural habitats and reduction in anthropogenic pressure are measures suggested for the conservation of giant squirrel populations in the study area. [ABSTRACT FROM AUTHOR]

Abstract: The aim was to investigate the association between the CAPN10 gene single nucleotide polymorphisms (SNPs) −44 (rs2975760), −43 (rs3792267), −19 (rs3842570), and −63 (rs5030952) and type 2 diabetes mellitus in an Asian Indian population in Southern India. A total of 1443 subjects, 794 normal glucose tolerant (NGT) and 649 type 2 diabetes mellitus subjects, were randomly selected from the Chennai Urban Rural Epidemiology Study. These subjects were genotyped for the 4 CAPN10 SNPs using polymerase chain reaction–restriction fragment length polymorphism and validated by direct sequencing. None of the 4 SNPs showed any significant differences in the genotypic distribution among the NGT and type 2 diabetes mellitus subjects (P = .20, .86, .34, and .39 for SNPs −44, −43, −19, and −63, respectively). The NGT subjects with the 11 genotype of the SNP −63 had significantly higher 2-hour postload plasma glucose (mean ± SD, 5.66 ± 1.05 mmol/L) levels compared with the combined 12 and 22 genotype group (5.33 ± 1.11 mmol/L, P = .004). The P value remained significant even after adjusting for age, sex, body mass index, smoking, and alcohol consumption (nominal P = .008). No significant difference in the biochemical parameters was observed when the subjects were stratified according to the other SNPs. The 2111 haplotype corresponding to SNPs −44, −43, −19, and −63 showed a significant difference in the proportion among NGT (0.18) and type 2 diabetes mellitus subjects (0.22, nominal P = .014). Although the Bonferroni correction based on the asymptotic test does not preserve this significance, the test based on the empirical distribution remained significant. In conclusion, our study raises the possibility that the 2111 haplotype of SNPs −44, −43, −19, and −63 may be associated with type 2 diabetes mellitus, although none of these SNPs may be individually associated with diabetes. [Copyright &y& Elsevier]

Abstract: Recent genomewide association studies have identified several new gene variants associated with type 2 diabetes mellitus (T2D) mostly in European populations. These need to be replicated in other populations. We studied 926 unrelated T2D and 812 normal glucose-tolerant subjects randomly selected from the Chennai Urban Rural Epidemiology Study in Southern India. A total of 45 single nucleotide polymorphisms (SNPs) from 15 genes and 13 unannotated loci identified from recent genomewide association T2D studies were genotyped. Only 6 of 45 SNPs studied were replicated in this South Indian population. Three SNPs—rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)—of the CDKAL1, rs7020996 (P = .003) of the CDKN2A/B gene, rs7923837 (P = .038) of the HHEX gene, and rs12056034 (P = .033) of the BAZ1B gene were associated with T2D in our population. Large-scale studies are needed in our population to validate our findings. [ABSTRACT FROM AUTHOR]

This paper places the anthropology of learning in conversation with the anthropology of work by unpacking the interrelationship between the processes by which a skill is learned and knowledge about the skill, its possibilities and ramifications. The paper's ethnographic focus is the Labbai mat-weavers of Pattamadai town in South India, who are ambivalent about being weavers. It contrasts this ambivalence with the excitement that weaving generated in a development practitioner who sought to promote the weaving industry and who also learned how to weave. The same skill is approached differently by different kinds of persons: they understand and learn different things. Learning and knowing cannot be easily separated. By focusing on the various purposes and modes of learning, on the social production of knowledge, and on instances of communication and miscommunication, the paper explores the embodied and historicized production of knowledge by different kinds of person: the mat-weavers, the development professional, and, to a certain extent, an anthropologist. [ABSTRACT FROM AUTHOR]

Abstract: Cobb–Douglas exponential function was employed to study the calcium and magnesium release pattern of south Indian tea soils. Calcium and magnesium releasing capacity of tea soils were studied by collecting soil samples from sixteen agro climatic zones of south Indian tea growing areas. Calcium and magnesium were extracted by repeat extraction method using 1 N ammonium acetate. The releasable calcium in the first extraction ranged between 280 and 1081 mg/kg while, releasable magnesium ranged from 33 to 126 mg/kg. The reduction in releasable calcium in the second extraction was 40–50% when compared to the first extraction almost in all the soils. The constant release of calcium was observed only after eighth extraction in most of the cases. Among all zones of south India the Coonoor zone of Nilgiris has recorded a maximum ‘a’ value and hence is least responsive to external application. The releasable magnesium decreased by about 50% in the second extraction itself which indicates that there should be regular application of magnesium otherwise it would become very much deficient. The magnesium content has become very low and almost constant in fifth or sixth extraction itself in majority of the cases. The ‘a’ value of all soils of south India can be grouped under responsive category for magnesium application, except for the Coonoor zone of the Nilgiris region. The Cobb–Douglas equation worked out for calcium and magnesium release indicated that the Latosols of south India could be grouped under highly responsive to medium responsive category towards externally applied calcium and magnesium nutrients. [Copyright &y& Elsevier]

Abstract: With the etiology being unclear till date, a combination of age, genetic and environmental factors are known to play a significant role in the pathogenesis of Parkinson''s disease. Mutations in PARK2 gene have been implicated to cause autosomal recessive early onset PD. We analyzed the 12 coding exons of PARK2 gene in 16 early onset PD patients of South Indian ethnicity. PARK2 mutations were present in 68% of the early onset cases. We report the presence of four PARK2 sequence variants c.1239G>C, c.171+25T>C, c.202A>G, c.601G>A, and a novel insertion mutation, c.798_799insA in the exon 7 of PARK2 gene. These results suggest that mutations in PARK2 gene may be a common cause of PD among South Indian early onset patients. [Copyright &y& Elsevier]

Abstract: Objective: To investigate the genetic association of eight variants of the adiponectin gene with type 2 diabetes mellitus (T2DM), obesity and serum adiponectin level in the south Indian population. Methods: The study comprised of 1100 normal glucose tolerant (NGT) and 1100 type 2 diabetic, unrelated subjects randomly selected from the Chennai Urban Rural Epidemiology Study (CURES), in southern India. Fasting serum adiponectin levels were measured by radioimmunoassay. The variants were screened by polymerase chain reaction-restriction fragment length polymorphism. Linkage disequilibrium was estimated from the estimates of haplotype frequencies. Results: Of the 8 variants, four SNPs namely, +276 G/T (rs1501299), −4522 C/T (rs822393), −11365 C/G (rs266729), and +712 G/A (rs3774261) were significantly associated with T2DM in our study population. The −3971 A/G (rs822396) and −11391 G/A (rs17300539) SNPs' association with T2DM diabetes was mediated through obesity (where the association with type 2 diabetes was lost after adjusting for BMI). There was an independent association of +276 G/T (rs1501299) and −3971 A/G (rs822396) SNPs with generalized obesity and +349 A/G (rs2241767) with central obesity. Four SNPs, −3971 A/G (rs822396), +276 G/T (rs1501299), −4522 C/T (rs822393) and Y111H T/C (rs17366743) were significantly associated with hypoadiponectinemia. The haplotypes GCCATGAAT and AGCGTGGGT conferred lower risk of T2DM in this south Indian population. Conclusion: The adiponectin gene variants and haplotype contribute to the genetic risk towards the development of type 2 diabetes, obesity and hypoadiponectinemia in the south Indian population. [Copyright &y& Elsevier]