No abstract

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3 weeks to 67 years, with disease onset after age 40 years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in SNORD118. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5′ end and 3′ extension of precursor‐U8. There was no obvious genotype–phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3′ end processing of precursor‐U8.

Aim The aim of our study was to measure the frontal sinus morphology that could aid us in gender determination and also to assess the difference in measurements between the right and left frontal sinus. Materials and methods A retrospective study was done using 100 cone beam computed tomography (CBCT) images (50 males and 50 females) matched with age and gender with full field of view (FOV). The examinations were carried out using Promax 3DMid (Planmeca Oy., Helsinki, Finland) CBCT unit. The frontal sinus was assessed in coronal, sagittal, and axial planes, and the maximum measurements in each section were recorded. The results to compare the right and left frontal sinus were analyzed using paired t-tests, and independent Student's t-test was used to compare the difference in measurements of frontal sinus between males and females. Results We found that the left side of the frontal sinus was bigger than the right side, and while comparing between the genders, it was found that the measurements were greater in males. Statistically significant results were obtained on comparing between the sides and gender. Conclusion As mentioned in previous studies, frontal sinus measurements are significantly higher in males compared with females which can, therefore, be used in gender identification in cases of mass disasters. Clinical significance Frontal sinus measurements can be used as an adjunct in gender identification in mass disasters and with advances in technology. Cone beam computed tomography, in addition to providing accurate measurements, has overcome all the disadvantages with two-dimensional imaging. How to cite this article Denny C, Jacob AS, Ahmed J, Natarajan S, Binnal A, Sujir N. Frontal Sinus as an aid in Gender Identification in Forensic Dentistry: A Retrospective Study using Cone Beam Computed Tomography. World J Dent 2018;9(1):34-37.

The selection of patients with medically refractory temporal lobe epilepsy (TLE) for surgery depends on the concordance of data from clinical, imaging and electroencephalographic evaluation. Though clinical examination is often normal, emotional facial paresis has been described in patients with TLE. Utilizing a well-characterized group of mesial TLE (MTLE) patients, who have achieved excellent seizure outcome following anterior temporal lobectomy with amygdalohippocampectomy (ATL), we investigated the prevalence, predictive value and associations of emotional facial paresis. When compared to 8 out of 50 control subjects (16%), 36 out of 50 MTLE patients (72%) exhibited unilateral emotional facial paresis; the difference was highly significant (P<0.0001). The presence of contralateral emotional facial paresis correctly predicted the side of ATL in 86.1% patients. The occurrence of emotional facial paresis was significantly associated with longer duration of epilepsy prior to ATL and left ATL. Our observations confirm that emotional facial parersis contralateral to the side of mesial temporal sclerosis (MTS) is a valuable localizing sign in correctly predicting the epileptogenic temporal lobe. We hypothesize that the presence of an intact right hemisphere and pathological changes more extensive than MTS may be required for emotional facial paresis to readily manifest.