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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]

Background: Easily correctable refractive errors are the commonest cause of visual impairment in school children in India. Children who need but cannot afford spectacle correction are high in our country. Important factor for the success of the corrective services is compliance to spectacle wear. Objective: To assess the spectacle wear compliance among school children who were provided spectacle free of cost. To study the determinants of spectacle acceptance and reasons for non compliance. Materials and Methods: All (1378) government school children of 7-15 years age group in both rural and urban field practice areas of a medical college in Bangalore were screened and students with refractive error were provided spectacles free of cost. An unannounced follow up was done after 3 months to assess compliance. Data was analyzed to determine the factors associated with spectacle wear compliance. Results: Among 36 boys and 47 girls who received spectacles free of cost, 31 were from rural and 52 from urban schools. 48(57.8%) children were actually wearing the spectacles at the time of follow up. 42(87.5%) compliant children reported improvement of performance in school related activities. Compliance was better in younger children and those from urban schools. Children of father with lower level of education and with power -0.5D were more likely to be non compliant. Conclusion: To achieve the goal of vision 2020 timely detection of refractive errors should be followed by cost effective intervention. The barriers to spectacle acceptance should be studied and addressed. [ABSTRACT FROM AUTHOR]

Context: Hand, foot, and mouth disease (HFMD) remains a common problem in India, yet its etiology is largely unknown as diagnosis is based on clinical characteristics. There are very few laboratory-based molecular studies on HFMD outbreaks. Aim: The aim of this study was to characterize HFMD-related isolates by molecular techniques. Settings and Design: Between 2005 and 2008, during two documented HFMD outbreaks, 30 suspected HFMD cases presented at the Outpatient Unit of the Department of Dermatology, Christian Medical College (CMC), Vellore. Seventy-eight clinical specimens (swabs from throat, mouth, rectum, anus, buttocks, tongue, forearm, sole, and foot) were received from these patients at the Department of Clinical Virology, CMC, for routine diagnosis of hand, foot, and mouth disease. Materials and Methods: Samples from these patients were cultured in Vero and rhabdomyosarcoma (RD) cell lines. Isolates producing enterovirus-like cytopathogenic effect (CPE) in cell culture were identified by a nested reverse transcription-based polymerase chain reaction (RT-PCR) and sequenced. The nucleotide sequences were analyzed using the BioEdit sequence program. Homology searches were performed using the Basic Local Alignment Search Tool (BLAST) algorithm. Statistical Analysis used: The statistical analysis was performed using Epi Info version 6.04b and Microsoft Excel 2002 (Microsoft Office XP). Results: Of the 30 suspected HFMD cases, only 17 (57%) were laboratory confirmed and Coxsackievirus A16 (CVA16) was identified as the etiological agent in all these cases. Conclusions: Coxsackievirus A16 (CVA16) was identified as the virus that caused the HFMD outbreaks in Vellore between 2005 and 2008. Early confirmation of HFMD helps to initiate control measures to interrupt virus transmission. In the laboratory, classical diagnostic methods, culture and serological tests are being replaced by molecular techniques. Routine surveillance systems will help understand the epidemiology of HFMD in India. [ABSTRACT FROM AUTHOR]

Background: The advent of highly active antiretroviral therapy (HAART) has changed the scenario of human immunodeficiency virus (HIV) infection. HIV patients in India have now access to generic HAART and this is the first report describing oral lesions in patients on HAART from our country. Methods: Oral lesions were studied in HIV seropositive patients ( n = 50 on HAART and n = 50 not on HAART) attending a tertiary HIV referral care centre in India and patients on HAART were followed up. Results: There was a difference in the occurrence of oral candidiasis (OC) between HAART and non-HAART participants (8%, 24%; P < 0.05). Pseudomembranous candidiasis was 4% and 18% in HAART and non-HAART groups respectively ( P < 0.05). In patients with CD4 count ≤200, OC was 5.6% in the HAART group and 39.1% in the non-HAART group ( P < 0.05). Among patients with CD4 count >200, pigmentation was 43.8% in the HAART group and 14.8% in the non-HAART group ( P < 0.05). Conclusion: The prevalence of OC in patients who had access to HAART was less when compared with those who did not have access to HAART. [ABSTRACT FROM AUTHOR]

By interacting with polymorphic HLA class I molecules, the killer cell immunoglobulin-like receptors (KIR) influence the innate and adaptive immune response to infection. The KIR family varies in gene content and sequence polymorphism, thereby, distinguishing individuals and populations. To investigate KIR diversity in the earliest settlers of India, we have characterized the KIR gene content in three Dravidian-speaking populations (Mollukurumba, Kanikar, and Paravar) from the state of Tamil Nadu, southern India. The activating KIR genes and putative group -B KIR haplotypes were frequent in Paravar and Kanikar, a scenario analogous to those seen previously in other populations of Indian origin, indicating that predominance of group -B KIR haplotypes is the characteristic feature of Indian populations. In contrast, the KIR gene profile of Mollukurumba was more related to Caucasian type. It is not clear whether a local-specific selection or a recent admixture from Iran is responsible for such discrete profile in Mollukurumba. Each southern Indian population had distinct KIR genotype profile. Comparative analyses with world populations revealed that group- B KIR haplotypes were frequent in the natives of India, Australia, and America, the populations associated with those involved in extensive prehistoric human migrations. Whether or not natural selection has acted to enrich group -B KIR haplotypes in these migratory descendants is an issue that requires objective testing. [ABSTRACT FROM AUTHOR]