Comparative efficacy of digital panoramic radiograph and cone beam computed tomography in locating mandibular foramen.

OBJECTIVE: The aim of this study was to compare the accuracy of panoramic radiographs (PAN) with cone-beam computed tomography (CBCT) in locating the position of the mandibular foramen (MF). PATIENTS AND METHODS: A total of 100 patients who underwent CBCT and panoramic imaging were included in the study. The location of the MF was evaluated anterior-posteriorly and superior-inferiorly on both CBCT and panoramic radiographs. Measurements were taken by two examiners, reviewed by a radiologist, and intra-examiner variability was assessed. A comparison of statistical analysis was performed using the Mann-Whitney U test, independent and paired t-test. A p-value ≤0.05 was deemed significant. RESULTS: The mean age of the patients was 35.03 years, with 51% females and 49% males. CBCT and panoramic radiographs showed comparable accuracy in locating the left (p=0.937) and right (p=0.371) MF anterior-posteriorly. In the superior-inferior dimension, the accuracy of CBCT and panoramic radiographs were comparable in locating the right (p=0.292) and left (p=0.640) MF. The gender-based accuracy of PAN and CBCT radiographs in locating the right (p=0.353) and left (p=0.985) MF was comparable. CONCLUSIONS: The study concludes that panoramic radiographs showed comparable accuracy in effectively locating MF in comparison to CBCT. The influence of gender and anatomic location (right and left sides of MF) on MF identification with panoramic radiographs was insignificant. Digital panoramic radiographs are an effective tool in accurately identifying MF location in clinical practice.

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow-up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%. Among the 25 individuals with recessive diseases, 18 had novel mutations in 16 genes (ASPM, SPINK5, QARS, MEGF10, SPATA7, GMPPA, ABCA4, SRD5A2, RPGRIP1L, MET, SLC12A6, ALDH1A3, TNFRSF11A, FLNB, PHGDH, and FKBP10) including five with phenotypic expansion.