ABSTRACT
The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies (GWAS) have uncovered dozens of single nucleotide polymorphism (SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants in Han and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic populations. Thus, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers.
Subject(s)
Humans , Infant , Asian People , Genetics , China , Ethnology , Cleft Lip , Genetics , Cleft Palate , Genetics , Genome-Wide Association Study , Logistic Models , Machine Learning , Methylenetetrahydrofolate Reductase (NADPH2) , Genetics , Polymorphism, Single Nucleotide , Retinol-Binding Proteins, Plasma , Genetics , Risk AssessmentABSTRACT
Objective: To determine the changes of upper airway morphology induced by mandible position from central relation to advancement position in patients with obstructive sleep apnea syndrome. Methods: Nineteen patients (17 males and 2 females) suffering from obstructive sleep apnea syndrome were confirmed with polysomnography. Occlusal wax record was made with mandible in advancement position. Helical computed tomography was performed on each patient in central relation and mandibular advancement position with wax record in situ respectively. On each slice, anteroposterior and transverse diameters were obtained. Airway shape was expressed as the anteroposterior/transverse (AP/T) diameter ratio. Paired samples t test was employed to compare the measurements. Results: With mandibular advancement, average and minimal diameters of glossopharynx and hypopharynx were increased significantly. Compared with it, the change of transverse diameter was more prominent. All segments of upper airway were increased significantly except hypophaynx laterally. Moreover, the change of velopharynx shape was observed on axial planes. Ellipse with transversal long axis became more compressed. Conclusion: Upper airway morphology of all segments was influenced by mandibular advancement whether in the sagittal or transverse plane of space, or airway shape. Not only anatomic connection but also regulation of the nerve system and other still unknown mechanism make contribution to the changes of upper airway morphology in patients with obstructive sleep apnea syndrome. The changes of upper airway morphology above mentioned constitute the rationale of treatment of obstructive sleep apnea syndrome with oral appliances.
ABSTRACT
Objective: To evaluate the clinical application of MBT straight wire. Methods: 41 cases, 11 males and 30 famales aged 12-42 years old, with malocclusion were treated by MBT straight wire appliance in orthodontic clinics, follow-up was carried out. Results: Satisfactory effects were obtained in 11 completely treated cases, preliminary improvement of occlusion was observed in the other 30 cases being still in the treatment. Conclusion: MBT straight wire appliances may be used in the treatment of various malocclusion, but special consideration should be taken according to the type of occlusion in each case.