0000000000248936
AUTHOR
Simranpreet Kaur
Toluidine blue staining as an adjunctive tool for early diagnosis of dysplastic changes in the oral mucosa
Prognosis of oropharyngeal squamous cell carcinoma depends on early diagnosis, despite advanced surgical techniques, the 5-year survival rate remains ~40-50%. Unfortunately, it is usually detected when it becomes symptomatic. This requires treatment which gives rise to a high rate of morbidity and mortality and, furthermore, early detection of oro-pharyngeal pre-malignant lesions is important to improve the survival rate and quality of life. Since dysplasia and in situ carcinoma contain much more DNA and RNA than the normal surrounding epithelium, the use of in vivo staining, by means of toluidine blue dye, is based on the fact that it is an acidophilic dye that selectively stains acidic ti…
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes which can share significant overlap amongst different conditions. In this study we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of…