Clinical Significance of Screening Thalassemia with High- Throughput Sequencing / 中国实验血液学杂志

OBJECTIVE@#To evaluate the diagnostic value of high-throughput sequencing (NGS) in screening the thalassemia genes.@*METHODS@#The peripheral blood of 2 858 cases of pre-pregnancy and pregnancy from October 2014 to October 2016 randomly were collected in department of obstetrics, the third people's hospital in Dongguan city. Peripheral blood was used for the blood routine examination, hemoglobin electrophoresis, traditional thalassaemia gene screening and NGS.@*RESULTS@#The rate of missed diagnosis for α-thalassemia and β-thalassemia using NGS was 0.87% and 1.59%, respectively. Meanwhile, the missed rate of screening for α-thalassemia and β-thalassemia by traditional screening models was 26.77% and 2.38%, respectively. The area under the ROC curve of α-thalassemia and β-thalassemia screened by NGS was 0.994 and 0.991, respectively, however, the area under the ROC curve of screening for α-thalassemia and β-thalassemia by the traditional screening model was 0.866 and 0.988, respectively. The sensitivity, rate of missed diagnosis, Youden index and negative predictive value of screening for α-thalassemia and β-thalassemia using NGS all were superior to those using traditional screening.@*CONCLUSION@#Compared with the traditional screening model, the NGS screening for thalassemia genes shows a high accuracy, moreover can avoid missed diagnosis resulted from screening by conventional method, suggesting that the NCS possesses the accurate and diagnostic value for screening of thalassemia and can widely apply to clinical practise so as to provid the guarantee for early diagnosis of thalassemia.

A preliminary study on the occlusal contact changes during retention in adolescent patients / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To evaluate the changes of the occlusal contact characteristics in adolescent patients during 12 months after active orthodontic treatment.</p><p><b>METHODS</b>Twenty adolescent patients with Hawley retainers after active orthodontic treatment were divided into none occlusal interference group and occlusal interference group. The occlusion of the patients was examined with T-Scan II system directly after the appliance removal (T1) and after an average retention period of 12 months (T2). The changes of occlusal contact characteristics were observed.</p><p><b>RESULTS</b>The disclusion time during protrusion, left and right lateral movements reduced significantly. The average disclusion time decreased [from (1.07 ± 0.87), (0.91 ± 0.47), (0.76 ± 0.43) s to (0.43 ± 0.25), (0.67 ± 0.41), (0.50 ± 0.27) s] significantly (P < 0.05). The occlusal interference disappeared in 4 patients and 1 patient with occlusal interference showed masticatory muscle symptom. The dynamic occlusion [from (1.25 ± 1.11), (0.84 ± 0.15), (0.52 ± 0.49) s to (0.35 ± 0.15), (0.36 ± 0.15), (0.33 ± 0.11) s] improved significantly (P < 0.05) in none occlusal interference group after retention and no statistical differences were found in the occlusal interference group (P > 0.05).</p><p><b>CONCLUSIONS</b>The overall dynamic occlusion improved after retention in patients with retainers. The presence of occlusal interference affected the self-improvement process and increased the chance of the disorders of stomatognathic system, such as mandibular abnormal movements. Therefore, functional occlusion evaluation and final detailing were needed before appliance removal.</p>