Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns / 中华医学遗传学杂志

OBJECTIVE@#To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.@*METHODS@#In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.@*RESULTS@#93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.@*CONCLUSION@#Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.

Comparison of the prenatal ultrasound,autopsy and vascular cast in diagnosis of right atrial isomerism / 中华超声影像学杂志

Objective To explore the value of prenatal ultrasound,autopsy and vascular cast in diagnosis of right atrial isomerism(RAI).Methods Forty cases diagnosed as RAI by prenatal ultrasound from May 2012 to May 2017 were analyzed.And the results of autopsy and vascular cast after odinopoeia were compared,then up the characteristics of RAI were summed.The feature of venous drainage was the point.Results For all the 40 cases,the relative position of magenblase,the cross section of aortaventralis, the cross section of inferior vena cava and umbilical vein were lost"C"shape view.In intracardiac anomalies magenblase and cardiac apex on the different sides accounted for 77.5%,the atrioventricular septal defect accounted for 67.5%,the right ventricle double outlet accounted for 65.0%,and pulmonary artery stenosis accounted for 52.5%.The major finding of venous drainage were:bilateral superior vena cava accounted for 52.5%,left inferior vena cava accounted for 60.0%,abnormal hepatic venous drainage accounted for 20.0%,pulmonary vein co-antrum accounted for 45.0%.Three cases of cardiac malformation and 4 cases of abnormal pulmonary venous drainage were misdiagnosed,and 4 cases of abnormal hepatic venous drainage were missed by prenatal ultrasound.Conclusions RAI always combines distinctive cardiac malformations and abnormal venous drainage.Prenatal ultrasound has significant diagnostic value.It's important to have further understanding about RAI through the feedback of autopsy and vascular cast.

Effect of ozone on Wnt/β-catenin signaling pathway in articular cartilage of rats with osteoarthritis / 中华麻醉学杂志

Objective To investigate the effects of ozone (O3) on Wnt/β-catenin signaling pathway in the articular cartilage of rats with osteoarthritis (OA).Methods Eighteen male SPF Wistar rats,aged 3 months,weighing 200-250 g,were randomly divided into 3 groups (n =6 each) using a random number table:control group (group C),group OA,and O3 group (group O).OA was induced by injection of monosodium iodoacetate 3 mg (50 μl) into the right knee joint cavity.On 7th day after the model was established successfully,25 μg/ml O3 1 ml were injected into the knee joint cavity,once a week for 3 consecutive weeks in group O.Behavioral changes were observed after establishment of the model.At 1 day before establishment of the model,and 1,4,7,14,21 and 28 days after establishment of the model,the mechanical paw withdrawal threshold (MWT) was measured.At 28 days after establishment of the model,the total knee joint was removed and stained with haematoxylin and eosin for examination of the pathological changes of the cartilage (under light microscope) and for determination of the expression of β-catenin and matrix metalloproteinase-13 (MMP-13) in the cartilage (by immunohistochemistry).Results The signs of OA such as hind-limb motor dysfunction,knee joint swelling,or decreased joint motion,and signs of hyperalgesia such as lickings were observed after establishment of the model in rats.Compared with group C,the MWT was significantly decreased at each time point after establishment of the model,and the ex pression of β-catenin and MMP-13 in the cartilage was significantly up-regulated in the other two groups(P＜0.05).Compared with group OA,the MWT was significantly increased at 7-28 days after establishment of the model,and the expression of β-catenin and MMP-13 in the cartilage was significantly down-regulated in group O (P＜0.05).The pathological changes of the cartilage were significantly reduced in group O as compared with group OA.Conclusion The mechanism by which O3 mitigates OA is probably related to inhibition of Wnt/β-catenin signaling pathway activation in the articular cartilage in rats.

Clinical value of three-dimensional transvaginal sonography in diagnosis of septate uterus and prediction of adverse pregnancy outcome / 中华妇产科杂志

Objective To investigate clinical value of three-dimensional transvaginal sonography (3D-TVS) in the diagnosis of septate uterus and the relationship between its parameters and adverse pregnancy.Methods From Mar.2010 to Sept.2011,73 patients (aged 23-35 years) with septate uterus who were diagnosed by 3D-TVS in Fujian Province Maternal and Child Health Hospital were enrolled in this retrospective study.The septum width,septum angle,septum length and the length of remaining uterine cavity were measured among the patients with subseptate uterus,and then,the distortion rate was calculated.The hysteroscopic surgery was used as the gold standard,and the diagnostic titer of 3D-TVS in the diagnosis of septate uterus was determined.Receiver operating characteristic curve (ROC) were plotted to evaluate the diagnostic titer of uterine parameters measured by 3D-TVS in predicting the adverse pregnancy outcome among patients with subseptate uterus.Univariate logistic regression was used to analyze the effectiveness of uterine parameters on adverse pregnancy outcome.Results Using hysteroscopic surgery as the gold standard,the coincidence rate of diagnosis of septate uterus by 3D-TVS was 94％ (69/73).Among the patients with septate uterus,25％ (17/69)were complete septate uterus,75％ (52/69) were subseptate uterus.Among patients with subseptate uterus,the septum length [(2.2 ± 0.6) cm] and distortion rate in patients with adverse pregnancy(0.60 ± 0.10)were significantly higher than those without adverse pregnancy [(1.5 ±0.6) cm,0.43 ±0.13,both P ＜0.05].However,no significant difference in the width,angle and length of septum were observed between the two groups (P ＞ 0.05).The area under ROC curve (AUC) of septum length and distortion rate in determining adverse pregnancy were 0.833 (95％ CI:0.721-0.944) and 0.800 (95％ CI:0.671-0.929),respectively.The optimal cutoff point of septum length was 1.94 cm,with the sensitivity was 74.3％ and the specificity was 76.5％ ; the optimal cutoff point of distortion rate was 0.48,with the sensitivity was 77.1％ and the specificity was 76.5％.The expectation morbidity ratio of adverse pregnancy was 2.717,3.067 and 0.514 by every adding level of septum length,distortion rate,and length of remaining uterine cavity,respectively.Conclusions 3D-TVS showed high accuracy in diagnosis of septate uterus.The septum length and distortion rate may predict the risk of adverse pregnancy,and the value of them can be used for screening adverse pregnancy in clinical practice.

Effect of low-concentration ozone on calcium channels in fetal rat spinal cord neurons in vitro / 中华麻醉学杂志

Objective To investigete the effect of low-concentration ozone (O3) on voltage-gated calcium channels in fetal rat spinal cord neurons in vitro. Methods The spinal cord neurons were cultured in vitro and identified by immunohistochemistry staining. Then the cells were seeded into the culture dish and randomly divided into 3 groups: control group (group C, n = 5), O3 15 μg/ml (group O3-15, n = 4) and O3 20 μg/ml group (group O3-20, n = 8). The cells were exposed to O3 15 and 20 μg/ml in group O3-15 and O3-20 respectively, while the cells were exposed to air in group C. After 20 min incubation, the electrophysiological activity of calcium channels in neurons was recorded using whole-cell patch-clamp technique. Results Peak calcium current density was significantly increased in group O3-15 and O3-20 compared with group C ( P ＜ 0.05). Half-activation voltage was significantly lower in group O3-15 and O3-20 than in group C ( P ＜ 0.05). Peak calcium current density was significantly higher in group O3 -20 than in group O3-15 ( P ＜ 0.05) . There was no significant difference in half-inactivation voltage among the three groups ( P ＞ 0.05). Conclusion Low concentration of O3 can make the activation of the calcium ion channel easy in fetal rat spinal cord neurons in vitro.