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.
<p><strong>Background:</strong> Salivary gland tumors are morphologically and histologically diverse group of lesions and their frequency varies in several parts of the world. Better understanding of these tumours will help in assessing the behaviour and outcomes of lesions of this region. The aim of this study was to analyse the charactertistics of different tumours occurring in the salivary gland in a tertiary care centre in South India.</p><p class="abstract"><strong>Methods:</strong> A retrospective study was conducted of salivary gland tumors diagnosed from the year 2015 to 2020. Patient age and gender, tumor site and frequency, histopathological diagnosis were evaluated and analysed.</p><p class="abstract"><strong>Results:</strong> A total of 36 salivary gland tumor cases was identified, 30 (87.3%) of which were classified as benign and 6 (12.7%) as malignant. Most tumors occurred in the parotid gland (81.3%). Pleomorphic adenoma was the most common tumor in 23 patients (63.8%), followed by warthins tumour. The tumors occurred more often in women than men.</p><p><strong>Conclusion: </strong>The results of the present study reinforce prevalence of salivary gland tumours. The parotid gland is the most common location and pleomorphic adenoma are the most frequent lesions. The malignant tumors also can occur in these glands and good clinical suspicion is necessary.</p><p class="abstract"> </p>
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