Introduction
We investigated if ACTN3, ENPP1, ESR1, PITX1 and PITX2 genes which contribute to sagittal and vertical malocclusion also contribute to facial asymmetries and TMD before and after orthodontic and orthognathic surgery treatment.
Methods
One hundred seventy four dentofacial deformity patients were diagnosed as symmetric or subdivided into four asymmetric groups according to PA cephalometric measurements. TMD exam diagnosis and Jaw Pain and Function-(JPF) questionnaires assessed presence and severity of TMD.
Results
Fifty two % of patients were symmetric and forty eight % asymmetric. The asymmetry classification demonstrated significant cephalometric differences between symmetric and asymmetric groups, and across the four asymmetric subtypes: Group 1 - mandibular body asymmetry, Group 2 - ramus asymmetry, Group 3 - atypical asymmetry and Group 4 - “C-shaped” asymmetry. ENPP1 SNP-rs6569759 associated with asymmetry Group 1(p=0.004), and rs858339 with asymmetry Group 3 (p=0.002). ESR1 SNP-rs164321 associated with asymmetry Group 4 (p=0.019). These results are confirmed by Principal Component Analysis (PCA) that showed three principal components explaining almost 80% of the variation seen in the studied group. PC1 and PC2 were associated with ESR1 SNP-rs3020318 (p<0.05). Diagnoses of disc displacement with reduction, masticatory muscle myalgia and arthralgia were highly prevalent in the asymmetry groups and all had strong statistical association to ENPP1 rs858339. The average JPF scores for asymmetric subjects before surgery (JPF=7), were significantly higher than symmetric subjects (JPF=2). Patients with asymmetry Group 3 reported the highest preoperative JPF scores and Group 2 and 3 were most likely to be cured of TMD one year after treatment.
Conclusions
PA cephalometrics can classify asymmetry into distinct groups; identify probability of TMD and genotype associations. Orthodontic and orthognathic treatment of facial asymmetry is very effective at eliminating TMD in most patients.
Nonsyndromic multiple supernumerary teeth (ST) and Leong's tubercle are a condition with a very low prevalence and a multidisciplinary approach is required to restore function and aesthetics. So, this case report aimed at presenting a rare case of nonsyndromic nine supernumerary teeth and Leong's tubercle in a pediatric patient, without any evident familial history, showing its diagnosis and surgical management.
The use of saliva and oral cells as sources of biological material has gained attention, due to advantages such as facility, non-invasiveness, and great patient acceptance. The objective of the study was to compare four different types of saliva and oral buccal cell collecting methods for genomic DNA extraction: (1)Expectoration of saliva, (2)Expectoration of saliva with lingual stimulation, (3)Scraping with cytological brush, and (4)Scraping with cytological brush and expectoration of saliva. The sample was composed of students and employees from the Dental School of the Federal University of Rio de Janeiro (n = 20, 10 men and 10 women with mean age of 47.60 ± 15.70 and 20.50 ± 2.1, respectively). The collections were performed with an interval of at least one day between them and the participants were instructed to stay for less than 30 minutes without eating food and brushing teeth. Samples were stored at -20°C until DNA extraction was performed using a commercially available kit (Qiagen®). Differences in DNA yield between methods were test for statistical significance with an alpha of 0.05. No sexual dimorphism was observed in relation to the concentration of DNA (p=0.76), age (p=0.91), and ethnicities (p=0.72). There was no significant difference between the collection methods in relation to the quantity and purity of the extracted DNA (p≥0.05). All methods gave lower DNA yields than the ones obtained from blood or saliva collected through comercial kits and maybe carefully use forclinical diagnostic purposes or for research experiements requiring higher DNA concentrations.
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