A standalone approach to utilize telomere length measurement as a surveillance tool in oral leukoplakia.

Oral squamous cell carcinoma (OSCC) is often preceded by a white patch on a surface of the mouth, called oral leukoplakia (OL). As accelerated telomere length (TL) shortening in dividing epithelial cells may lead to oncogenic transformation, telomere length measurement could serve as a predictive biomarker in OL. However, due to high variability and lack of a universal reference, there has been a limited translational application. Here, we describe an approach of evaluating TL using paired peripheral blood mononuclear cells (PBMC) as an internal reference and demonstrate its translational relevance. Oral brush biopsy and paired venous blood were collected from 50 male OL patients and 44 male healthy controls (HC). Relative TL was measured by quantitative PCR. TL of each OL or healthy sample was normalized to the paired PBMC sample (TL ratio). In OL patients, the mean TL ratio was significantly smaller not only in the patch but also in distal normal oral tissue, relative to healthy controls without a high-risk oral habit. Dysplasia was frequently associated with a subgroup that showed a normal TL ratio at the patch but significantly smaller TL ratio at a paired normal distal site. Our data suggest that evaluation of TL attrition using a paired PBMC sample eliminates the requirement of external reference DNA, makes data universally comparable and provides a useful marker to define high-risk OL groups for follow-up programs. Larger studies will further validate the approach and its broader application in other premalignant conditions.

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.

Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was <10 years with no other congenital anomaly. After a thorough history, clinical examination and all audiological and radiological assessment, blood samples are collected and DNA extraction, PCR and sequencing were done for further genetic analysis. Annotated and documented autosomal recessive (pathogenic) mutations were observed in 57 % of NSRD cases. The frequency of pathogenic mutation was commonest for Ins G between nucleotide 30-35 (40 % of cases) followed by Del T at nucleotide 59(20 % of cases).These two common mutations (singly or doubly) were present in 51.4 % of cases. Present study helps to screen the families with hearing impaired children, which will facilitate the development of strategies for diagnosis and treatment of these common genetic disorders.

Objective and subjective evaluation of larynx in smokers and nonsmokers: a comparative study.

The deleterious effects of smoking on laryngeal mucosa are indisputable. Smoking not only causes histologic (microscopic) alterations in the vocal fold epithelium but also affect the acoustic property of voice. The goal of this study was to determine the effects of smoking on the laryngeal structures and phonatory physiology via videostroboscopy, acoustic voice analysis and electroglottography. Cross-sectional and observational study was carried out in Department of ENT, Pt. J. N. M. Medical College, Raipur, in 100 male volunteers (50 smokers and 50 nonsmokers) between the ages of 18 and 60 years with no voice complaints. All subjects were analyzed for detailed history and underwent videostroboscopic, acoustic voice analysis and electroglottographic examination. Videostroboscopic examination results showed significant relationships between smoking and abnormal vocal fold edge, abnormal texture, edema, erythema, abnormal mucosal cover, abnormal phase symmetry and abnormal pliability/stiffness. Voice analysis showed that smoking has a clear effect on some acoustic voice and electroglottographic parameters. The parameters most commonly affected by smoking are fundamental frequency (F0), jitter, shimmer, F0 tremor, normalized noise energy, signal noise ratio, maximum phonation time (MPT), s/z ratio, opening rate and closing rate. The results indicate that smoking has a significant effect on laryngeal structures and phonatory physiology.

Bronchial rhinosporidiosis: An unusual presentation.

Rhinosporidiosis is a granulomatous disease that usually affects the nasal mucosa and nasopharynx. The disease is widely prevalent in the tropics, especially in southern India and Sri Lanka. In central India, rhinosporidiosis is endemic in Raipur, Chhattisgarh. Involvement of the tracheobronchial tree is extremely rare. Only two cases of bronchial rhinosporidiosis had been reported in world literature. We report a third case of bronchial rhinosporidiosis which occurred in a patient with coexisting nasal and nasopharyngeal rhinosporidiosis. Bronchoscopic guidance excision of mass and electric cauterization of base was done under local anesthesia.

Demographic and videostroboscopic assessment of vocal pathologies.

Successful treatment of bilateral vocal fold lesions depends on the accuracy of the diagnosis. The application of stroboscopy to the study of vocal fold vibration has led to dramatic advances in the understanding of vocal fold physiology. Laryngeal stroboscopy is the state of the art diagnostic tool and this technique provides valuable information about the nature of the vibration and a visual image that can be used both for immediate analysis and as a permanent record for comparison of repeated examination at a later date. In this study we are presenting demographic analysis and videostroboscopic assessment in 112 cases of different vocal pathologies. Stroboscopic parameters like glottic closure, amplitude, vocal fold edge, symmetry, periodicity and mucosal wave pattern were studied and statistically significant relationship with different vocal pathologies were obtained.