Role of Fluorescence Imaging Device in Screening of Oral Cancer: A Cross-Sectional Study in Chhattisgarh Population.

BACKGROUND: Oral squamous cell carcinoma is a major health issue worldwide. Screening and early diagnosis are the key elements for the better prognosis of potentially malignant oral disorders. OBJECTIVES: This study establishes the effectiveness of fluorescence imaging device in the early detection and precise examination of the normal-appearing oral mucosa of tobacco chewer patients in white light and fluorescence light. MATERIALS AND METHODS: The study consists of a total of 150 patients equally categorized into frequent tobacco chewers with normal mucosa, precancerous lesion, and cancerous lesion. Out of which 10 cases were excluded due to technical errors and consent-related issues. The correlation between examined oral mucosa under white light and fluorescence light was evaluated through a 2 × 3 contingency table Chi-square test. RESULTS: Out of 140 participants with a positive cancer diagnosis, there are 43 and 53 patients were sensitive to white light andfluorescence light, respectively. The estimated values for sensitivity and specificity were 0.83 (95% confidence interval: 0.736-0.906) for biopsy report diagnosis. CONCLUSIONS: Although autofluorescence device plays a critical role in the diagnosis of precancerous oral mucosal lesions in the early stages, the histopathological evaluation remains the gold standard diagnostic approach for this life-threatening disease. Due to the high sensitivity of autofluorescence examination, it has a vital role in determining high-risk oral lesions (precancerous) and oral cancer in mass screening programs for the cancer-prone population.

High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.

BACKGROUND: Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had been reported in hypertrophic cardiomyopathy patients (HCM). However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients of Indian origin, hence we have undertaken this study. METHODS: We have sequenced all the exons, including the exon-intron boundaries of TNNI3 gene in 101 hypertrophic cardiomyopathy patients (HCM), along with 160 healthy controls, inhabited in the same geographical region of southern India. RESULTS: Our study revealed a total of 16 mutations. Interestingly, we have observed Arginine to Glutamine (R to Q) mutation at 3 positions 98, 141 and 162, exclusively in HCM patients with family history of sudden cardiac death. The novel R98Q was observed in a severe hypertrophic obstructive cardiomyopathy patient (HOCM). The R141Q mutation was observed in two familial cases of severe asymmetric septal hypertrophy (ASH++). The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm, and have also consists of allelic heterogeneity by means of having one more synonymous (E179E) mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85%) with a rare codon (GAA: 14%). Screening for R162Q mutation in all the available family members revealed its presence in 9 individuals, including 7 with allelic heterogeneity (R162Q and E179E) of which 4 were severely affected. We also found 2 novel SNPs, (g.2653; G → A and g.4003 C → T) exclusively in HCM, and in silico analysis of these SNPs have predicted to cause defect in recognition/binding sites for proteins responsible for proper splicing. CONCLUSION: Our study has provided valuable information regarding the prevalence of TNNI3 mutations in Indian HCM patients and its risk assessment, these will help in genetic counseling and to adopt appropriate treatment strategies.