ABSTRACT
Introduction: The variable relation and clinical significance of mandibular foramen (MF) and Lingula with inferior alveolar neurovascular bundle (IANB) is important for dental surgeons. Knowing the landmarks on the ramus of the mandible is of paramount importance to perform the surgery without causing damage to the neurovascular bundle. Materials and Methods: This study was conducted on 85 dry adult mandibles of unknown sex and age. The distances were measured from the anatomical reference points (anti-Lingula, Lingula and MF) using digital callipers. Results: The distance from the anti-Lingula to the anterior border of the ramus (A) was significantly longer on the right side (14.91 mm) than on the left side (14.5 mm). There was a significant difference in mean distances between the anti-Lingula and MF of both the sides (P ≤ 0.005). No significant difference was noted in the distances between the Lingula and the Anti-Lingula, observed for the posterior (B, P = 0.75) and the inferior margin of the mandible (D, P = 0.54). However we found correlation of vertical distances of anti-Lingula with Lingula and MF exhibited moderate positive correlation. Discussion: The IANB is prone to damage during mandibular surgery. Using anti-Lingula alone as a reference point is not guaranteed, but it is still an important anatomical landmark for the surgeon to operate.
ABSTRACT
BACKGROUND: Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. METHODS: We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. RESULTS: We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. CONCLUSION: In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.