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Balaji K.,Alagappa University | Thenmozhi R.,Alagappa University | Prajna L.,Aravind Medical Research Foundation | Dhananjeyan G.,Alagappa University | Pandian S.K.,Alagappa University
Infection, Genetics and Evolution | Year: 2013

Group A Streptococcus (Streptococcus pyogenes) is responsible for a wide array of infections and incidence is high in developing countries like India. Although distribution of emm types of S. pyogenes in India has been described, its association with the virulence genes and ocular isolates is less concentrated. In the present study emm type surveillance as well as its association with toxin gene profile was analyzed. Ocular infected cases such as lacrimal abscess, corneal ulcers, mucocoele showed the presence of 20 S. pyogenes isolates. For noninvasive isolates, we screened 370 pharyngitis cases and 400 asymptomatic school children and recovered 33 pharyngitis and 14 carrier isolates respectively. 14 Emm type distributions were observed in ocular isolates, 11 emm types each in pharyngitis and asymptomatic carrier isolates. The two dominant emm types, emm49 and emm63 were accounted for 33% of the total S. pyogenes isolates. Among ocular isolates, slo, smeZ, speB and speG were found in >50% of isolates, in pharyngitis smeZ (48%), speB (45%) and speG (42%) genes were found to be prevalent. Alarmingly, carrier isolates showed more prevalence to virulence genes than the ocular and pharyngitis isolates with speF (79%), speB, speG (64%), slo and sil (64%). Among the three groups, pharyngitis isolates harbored more prtF1 (33%) and prtF2 (94%) than the asymptomatic carriers (28% and 71%) and the ocular isolates (45% and 40%). 450 bp Size band in prtF1 and 350 bp size band in prtF2 showed dominance. Among the three groups tested, the distribution of ermB and mefA was high in pharyngitis isolates (30%) where 10 isolates showed the presence of both genes. None of the isolates showed the presence of ermA and tetO genes. Dendrogram generated based on the virulence and antibiotic resistance gene profiles revealed that except one cluster, all other clusters showed some correlation with ocular, pharyngitis and asymptomatic carrier isolates, irrespective of their emm types. © 2013 Elsevier B.V.

Manayath G.J.,Aravind Eye Hospital and Postgraduate Institute of Ophthalmology | Namburi P.,Aravind Medical Research Foundation | Periasamy S.,Aravind Medical Research Foundation | Kale J.A.,Aravind Eye Hospital and Postgraduate Institute of Ophthalmology | And 2 more authors.
Molecular Vision | Year: 2014

Purpose: Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also called PNR) gene. The present study proposed to understand the clinical and genetic characteristics of the family of a patient with an ocular phenotype consistent with Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina (VPTRs). Methods: Twelve family members of the proband from three generations underwent complete ophthalmic examination, including best-corrected visual acuity with Snellen optotypes, tonometry, biomicroscopic examination, indirect ophthalmoscopy after pupillary dilatation, computerized perimetry, optical coherence tomography, fundus photography, intravenous fluorescein angiography, and electroretinography (ERG). All the study subjects underwent genetic analysis of the entire coding region of the NR2E3 gene with the bidirectional DNA sequencing approach. Hundred healthy individuals were screened for the variant. Results: The phenotype of the proband had features of GFS with VPTRs. The tumors showed complete resolution with cryotherapy and transpupillary thermotherapy (TTT). Sequencing of the entire coding region of the NR2E3 gene in the proband revealed a novel homozygous c.1117 A>G variant that led to the amino acid change from aspartic acid to glycine at position 406 (p.D406G). This change was present in the homozygous state in affected family members and in the heterozygous state in unaffected family members, and was undetectable in the control subjects. The identified novel p.D406G homozygous mutation was at an evolutionarily highly conserved region and may possibly affect the protein function (Sorting Intolerant From Tolerant [SIFT] score = 0.00). Conclusions: Patients with GFS may present with retinal VPTRs that respond to therapy with cryotherapy and TTT. Molecular genetic studies helped to identify a novel p.D406G mutation in the affected members, which will aid in confirming the diagnosis, for genetic counseling of family members and potentially provide some form of therapy for the affected patients. © 2014 Molecular Vision.

Arya L.K.,Aravind Medical Research Foundation | Rathinam S.R.,Aravind Eye Hospital and Postgraduate Institute of Ophthalmology | Lalitha P.,Aravind Medical Research Foundation | Kim U.R.,Aravind Eye Hospital and Postgraduate Institute of Ophthalmology | And 3 more authors.
Emerging Infectious Diseases | Year: 2016

Trematodes are recognized as a group of emerging parasites in tropical countries. We identified a trematode as a cause of ocular granulomas that developed in children who bathed in ponds or rivers in South India. DNA was isolated from patients’ surgically excised granulomas and from the trematode cercariae (larvae) released by the snail Melanoides tuberculata in water in which the children bathed. Real-time and conventional PCRs were performed that targeted ribosomal DNA regions spanning the internal transcribed spacer 2 and 28S sequences of this trematode. The PCR-amplified products were subjected to bidirectional sequencing. Analysis of sequences for the granuloma samples and the trematode cercariae showed maximum sequence similarity with Procerovum varium (family Heterophyidae). Our results confirmed the etiology of the ocular infection, implicating snail vectors as environmental risk factors for ocular parasitosis. © 2016, Centers for Disease Control and Prevention (CDC). All rights reserved.

Arya L.K.,Aravind Medical Research Foundation | Kumar A.B.,Bombay City eye Institute | Shetty S.,Aravind Eye Hospital | Perumalsamy V.,Aravind Eye Hospital | Sundaresan P.,Aravind Medical Research Foundation
Ophthalmic Genetics | Year: 2011

Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction. Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome). In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. All four exonic and the neighboring intronic regions of SALL4 gene were amplified by sixteen sets of primers using polymerase chain reaction and were subjected to bi-directional sequencing and BLAST analysis. No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis of these disorders in the South Indian population. © 2011 Informa Healthcare USA, Inc.

Senthilkumari S.,Aravind Medical Research Foundation | Talwar B.,Aravind Eye Hospital Pondicherry | Dharmalingam K.,Aravind Medical Research Foundation | Ravindran R.D.,Aravind Eye Hospital Pondicherry | And 6 more authors.
Experimental Eye Research | Year: 2014

We have previously reported low concentrations of plasma ascorbate and low dietary vitamin C intake in the older Indian population and a strong inverse association of these with cataract. Little is known about ascorbate levels in aqueous humor and lens in populations habitually depleted of ascorbate and no studies in any setting have investigated whether genetic polymorphisms influence ascorbate levels in ocular tissues. Our objectives were to investigate relationships between ascorbate concentrations in plasma, aqueous humor and lens and whether these relationships are influenced by Single Nucleotide Polymorphisms (SNPs) in sodium-dependent vitamin C transporter genes (SLC23A1 and SLC23A2). We enrolled sixty patients (equal numbers of men and women, mean age 63 years) undergoing small incision cataract surgery in southern India. We measured ascorbate concentrations in plasma, aqueous humor and lens nucleus using high performance liquid chromatography. SLC23A1 SNPs (rs4257763, rs6596473) and SLC23A2 SNPs (rs1279683 and rs12479919) were genotyped using a TaqMan assay. Patients were interviewed for lifestyle factors which might influence ascorbate. Plasma vitamin C was normalized by a log10 transformation. Statistical analysis used linear regression with the slope of the within-subject associations estimated using beta (β) coefficients. The ascorbate concentrations (μmol/L) were: plasma ascorbate, median and inter-quartile range (IQR), 15.2 (7.8, 34.5), mean (SD) of aqueous humor ascorbate, 1074 (545) and lens nucleus ascorbate, 0.42 (0.16) (μmol/g lens nucleus wet weight). Minimum allele frequencies were: rs1279683 (0.28), rs12479919 (0.30), rs659647 (0.48). Decreasing concentrations of ocular ascorbate from the common to the rare genotype were observed for rs6596473 and rs12479919. The per allele difference in aqueous humor ascorbate for rs6596473 was-217μmol/L, p<0.04 and a per allele difference in lens nucleus ascorbate of-0.085μmol/g, p<0.02 for rs12479919. The β coefficients for the regression of log10 plasma ascorbate on aqueous humor ascorbate were higher for the GG genotype of rs6596473: GG, β=1460 compared to carriage of the C allele, CG, β=1059, CC, β=1132, p interaction=0.1. In conclusion we found that compared to studies in well-nourished populations, ascorbate concentrations in the plasma, aqueous humor and lens nucleus were low. We present novel findings that polymorphisms in SLC23A1/2 genes influenced ascorbate concentration in aqueous humor and lens nucleus. © 2014 Elsevier Ltd.

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