A Prospective Study Between Molecular Marker P53 Analysis and HPE, for Tumour Positivity in Primary Resected Margins in Head and Neck Squamous Cell Carcinoma.

Head and neck malignancies are the seventeenth most common malignancies, worldwide and second most common malignancy in India. So current study aims to compare between molecular marker p53 analysis and HPE for tumour positivity in primary resected margins in head and neck SCC. 61 patients with head and neck SCC were included in this prospective observational cross-sectional study performed in tertiary care hospital. A detailed history general physical examination blood investigation was done before the surgery. After the surgery, primary lesion from the resected tumour was sent for HPE analysis. From the same specimen, the margins at distance of 0.5-1 cm from primary tumour were sent for p53 mutation analysis. Report of p-53 mutation was noted and entered to the Performa. In our study we found out that in PDSCC HPE negative margins were found positive for p53 mutation in 81% cases. Which suggest that evaluation for p53 mutation should be done in PDSCC cases for HPE negative margins with in 1 cm. In patients of head and neck squamous cell carcinoma with free margins on HPE p-53 mutation is significantly associated to the PDSCC and margin upto 0.7 mm so recommended for p-53 profile can be beneficial in cases of the PDSCC and margins up to 0.7 mm for further management or for possibility of recurrence and its management to improve patients survival and decrease morbidity and mortality.

A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment.

Mutations in the genes, GJB2 and GJB6 play an important role in autosomal recessive, non-syndromic hearing loss. This study is aimed to detect the association of mutations in GJB2 and GJB6 genes in familial autosomal recessive non-syndromic hearing impairment cases. We included 26 families with at least two affected individuals having congenital bilateral, non-syndromic sensorineural hearing loss. Blood samples were drawn, DNA was extracted, and sent for multiplex PCR and Sanger sequencing. Of the 26 families analyzed, GJB2 mutations were detected in 9(34.6%) and GJB6 mutations were not detected in any of the families. GJB2 mutations are a major cause of congenital, non-syndromic hearing loss in this study population. This study also suggests that GJB6 mutations do not contribute to autosomal recessive non-syndromic hearing loss in the Indian population.