This study aims to examine the feasibility of ML-assisted salivary-liquid-biopsy platforms using genome-wide methylation analysis at the base-pair and regional resolution for delineating oral squamous cell carcinoma (OSCC) and oral potentially malignant disorders (OPMDs). A nested cohort of patients with OSCC and OPMDs was randomly selected from among patients with oral mucosal diseases. Saliva samples were collected, and DNA extracted from cell pellets was processed for reduced-representation bisulfite sequencing. Reads with a minimum of 10× coverage were used to identify differentially methylated CpG sites (DMCs) and 100 bp regions (DMRs). The performance of eight ML models and three feature-selection methods (ANOVA, MRMR, and LASSO) were then compared to determine the optimal biomarker models based on DMCs and DMRs. A total of 1745 DMCs and 105 DMRs were identified for detecting OSCC. The proportion of hypomethylated and hypermethylated DMCs was similar (51% vs. 49%), while most DMRs were hypermethylated (62.9%). Furthermore, more DMRs than DMCs were annotated to promoter regions (36% vs. 16%) and more DMCs than DMRs were annotated to intergenic regions (50% vs. 36%). Of all the ML models compared, the linear SVM model based on 11 optimal DMRs selected by LASSO had a perfect AUC, recall, specificity, and calibration (1.00) for OSCC detection. Overall, genome-wide DNA methylation techniques can be applied directly to saliva samples for biomarker discovery and ML-based platforms may be useful in stratifying OSCC during disease screening and monitoring.
19 June 2025 in International Journal of Oral and Maxillofacial Surgery
Obstructive sleep apnoea (OSA) is a complex health condition associated with significant health risks and diminished quality of life. Despite continuous positive airway pressure (CPAP) being the gold standard treatment for years, its poor adherence is well documented. With the emergence of drug-induced sleep endoscopy (DISE) and phenotypic approach to OSA, traditional surgical and non-surgical treatment pathways have been improved to allow personalised treatment and minimising suboptimal treatment to patients demonstrating various upper airway obstruction of OSA endotypes. Sedation protocol propofol, midazolam and dexmedetomidine have been suggested. The VOTE classification for documenting DISE findings have been proposed to unify results across studies. DISE plays an invaluable role in offering insights on treatment successes for positive airway pressure (PAP) therapy, mandibular advancement device (MAD) therapy, positional therapy, and surgical interventions including palatal surgeries, tongue base surgeries, upper airway stimulation (UAS) surgery and maxillomandibular advancement (MMA). This review aims at consolidating current evidence on DISE protocols, indications, and treatment implications to improve therapeutic success in OSA management.