Objective To analyze the dynamic changes of perinatal defects in Lishui city from 2005 to 2014.Methods According to hospital-based data,87 294 fetuses and infants aged from 28 weeks of gestation to 7 days after birth were monitored for birth defects in Lishui city from 2005 to 2014.Results Among 87 294 perinatal infants,birth defects were found in 1 914 cases with a incidence of birth defects of 219.3/ten thousand,which was on the rise year by year except 2009.The incidence of birth defects was 235.1/ten thousand (737/31 352) in urban areas,which was significantly higher than that in rural areas (210.4/ten thousand,1 177/55 942) (x2 =5.705,P ＜ 0.05).The incidence of birth defects of boys and girls was 221.1/ten thousand (1 005/45 453) and 212.8/ten thousand (890/41 822),respectively (x2 =0.707,P ＞ 0.05).Among 1 914 cases of defects,657 were detected prenatally and 1 257 case were detected within 7 days after birth.Congenital heart disease was the most common birth defect,followed by polydactyly,cleft lip,microtia and syndactyly.Birth defect accounted for 32.74％ (278/849) of all perinatal deaths and the ratio was on the rise since 2010.Conclusion There is an upward trend in incidence of birth defects in Lishui city in the last decade;the incidence of birth defects in urban areas is significantly higher than that in rural areas;the incidence of congenital heart disease is high,and birth defects are the main cause of perinatal death.

Objective To study the expression of SGK1 in T lymphocytes from pediatric asthma,and the effect of SGK1 on the differentiation of T cells,also to explore the function of SGK1 regulating the differen-tiation of T subset in pediatric asthma. Methods Twenty-eight children with asthma were recruited in Xi′an children′s hospital and divided into moderate group and severe group according to diagnostic guideline of asth-ma. The serum levels of IL-4,IL-13 and IL-17A were analyzed by ELISA. The CD4 +T cells from PBMC and na?ve T cells were selected using magnetic beads. Na?ve T cells were differentiated in vitro under cytokines. SGK1 expression were analyzed with Real-time PCR. The ability of Th2 and Th17 on secreting IL-4 and IL-17A were detected after SGK1 was inhibited by siRNA. In vivo,shRNA-SGK1 Na?ve T cells were transferred into the mice asthma models by intravenous injection. The airway inflammation were observed in shRNA-SGK1 Na?ve T models. Results Compared with healthy children,the serum levels of IL-4、IL-13 and IL-17A increased signifi-cantly in the children with asthma. Importantly,the levels of these three cytokines were much higher with the de-velopment of asthma. SGK1 were up-regulated remarkably in CD4 +T cells from the children with asthma and were positively correlated with IL-13 and IL-17A. Besides,SGK1 expression increased in the differentiated Th2 and Th17 in vitro,but had no change in the differentiated Th1. The levels of IL-4 and IL-17A associated with Th2 and Th17 decreased after SGK1 was inhibited by siRNA. Similarly,In vivo,the serum levels of IL-13 and IL-17A and airway inflammation were reduced in shRNA-SGK1 Na?ve T models. Conclusion The over-expres-sion of SGK1 in pediatric asthma enhances the asthma progress by promoting the differentiation of T subsets.

To investigate the plasma thioredoxin-interacting protein ( TXNIP ) levels in different glucose tolerance groups and discuss the relationship between TXNIP and insulin resistance/β-cell dysfunction in diabetes and prediabetes, and to investigate the potential relationship between TXNIP and interleukin-1β( IL-1β) . According to oral glucose tolerance test, 93 participants were divided into 3 groups:diabetes mellitus group, prediabetes group, and normal glucose tolerance group. Plasma TXNIP, IL-1β, and other biochemical indices were measured. The relationship between TXNIP and glucose, IL-1β, homeostasis model assessment for insulin resistance ( HOMA-IR) , and homeostasis model assessment forβcell function ( HOMA-β) were analyzed by using multiple linear regression techniques and Pearson’s linear correlation analysis. Plasma TXNIP level was higher in prediabetes group compared with normal glucose tolerance group, but lower in prediabetes group compared with diabetes mellitus group[(355. 35±31. 88 vs 274. 36±33. 86, 426. 16±63. 15)pg/ml, P<0. 01 or P<0. 05]. TXNIP was positively correlated with IL-1βand HOMA-IR, but negatively correlated with HOMA-β. Multiple linear regression analysis indicated that IL-1βexerted significant influence on TXNIP ( P<0. 05 ). Plasma TXNIP level is affected by blood glucose concentration. There is a close relationship between TXNIP and IL-1β. In prediabetes patient, the TXNIP levels have already been raised.

Objective To evaluate the value of echo‐contrast RT‐3DE for assessment of left ventricular volume and function in patients with left ventricular non‐compaction(LVNC) .Methods Twenty‐one patients of LVNC were involved and underwent non‐enhanced and contrast‐enhanced RT‐3DE to evaluate left ventricular end‐diastolic volume (LVEDV) ,left ventricular end‐systolic volume (LVESV) ,left ventricular ejection fraction (LVEF) .The endocardial border definition of LV was graded for each of the 16 LV segments as follows :0 = border invisible ,1 = border visualized only partially ,and 2 = complete visualization of the border .Three image‐quality groups (good ,fair ,and uninterpretable) were identified . Results ①Duringcontrast‐enhancedRT‐3DE,ascomparedwithnon‐enhancedRT‐3DE,thenumberof segments with complete visualization of the endocardial border increased significantly (55% vs 82% ,P <0.01) ,and the number of patients with a good‐quality echocardiogram increased significantly (33% vs 81% , P <0.01) .②Contrast‐enhanced RT‐3DE provided significantly larger values of LVEDV ( P < 0 0.1) and LVESV ( P < 0 0.1) as compared with non‐enhanced RT‐3DE ,the values of LVEF were not statistically different between the two techniques ( P =0.07) .③Intra‐and inter‐observer agreement for assessment of LV volumes and systolic function improved during contrast‐enhanced RT‐3DE ,as compared with non‐enhanced RT‐3DE .Conclusions Contrast‐enhanced RT‐3DE can increase the prevalence of good‐quality echocardiograms and significantly improve the reproducibility of LV volumes and function measurements .

Objective To investigate the expression of plasma microRNA-214 in patients with acute myocardial infarction (AMI) and its correlation with left ventricular remodeling (LVR). Methods A total of 158 AMI patients and 85 controls were selected from Hebei province Zhuozhou City Hospital. According to the left ventricular remodeling after PCI operation, AMI patients were divided into LVR group (n=41) and non LVR group (n=105). Real-time quantitative reverse transcription-polymerase chain reaction (RT-PCR) was used to detect the plasma microRNA-214 levels, and the brain natriuretic peptide (BNP) and C-reactive protein (CRP) levels were detected by immunoassay. Pearson correlation analysis of plasma microRNA-214 levels and the correlation between CRP and BNP were analyzed in patients with LVR. The receiver operating characteristic (ROC) curve analysis of plasma microRNA-214, BNP and CRP were used to predict the efficacy of LVR in patients with AMI after PCI. Logistic regression model was used to analyze the relationship between the above indexes and LVR. Results Compared with the control group, left ventricular ejection fraction (LVEF) and left ventricular short axis shortening (FS) were significantly decreased in LVR group and non LVR group, and which were decreased more significantly in LVR group compared with those of non LVR group (P<0.05). The left ventricular end diastolic diameter (LVDD), left ventricular end diastolic volume (LVEDV) and left ventricular end systolic volume (LVESV) were significantly increased in LVR group and non LVR group, and which were increased more significantly in LVR group than those in non LVR group (P<0.05). The levels of plasma microRNA-214, BNP and CRP were significantly higher in LVR group than those in non LVR group and control group (P<0.05). Correlation analysis showed that microRNA-214, BNP and CRP were positively correlated in patients with LVR (r=0.684 and r=0.405, P<0.01). The area under ROC curve (AUC) and 95%CI predicted by plasma microRNA-214 and BNP were 0.824 (0.757-1.015) and 0.785 (0.721-0.864) in patients with AMI and LVR, which were higher than CRP [0.716 (0.645-0.837), P=0.0167]. The sensitivity and specificity of plasma microRNA-214 in predicting the occurrence of LVR were 72.6% and 86.2% in patients with AMI, respectively. Logistic regression model analysis showed that plasma microRNA-214 and BNP were risk factors of LVR. Conclusion High expression of plasma microRNA-214 is found in LVR patients, which is expected to be the biological indicator for predicting the occurrence of LVR after PCI in patients with AMI.

Objective To investigate the abnormal brain activity of first-episode depression by rest-ing state functional magnetic resonance imaging ( fMRI) .Methods Twenty-one adolescent participants diag-nosed with depression(AD) and 18 healthy controls ( HC) were recruited.Resting state fMRI brain scans were performed on all participants.Regional homogeneity ( ReHo) approach was applied to preprocess the fMRI datasets.The value of ReHo maps were obtained in the whole brain.Results ReHo values in the AD group were higher than those in the healthy controls in the right inferior temporal gyrus ( MINI:66,-24,-20) ,left upper cingulate cortex (-27,47,-6) ,frontal polar (-24,59,14) ,after upper left cingulate cortex (-1,-16,35),after the bottom left cingulate cortex (-2,-38,32),left praecuneus (-1,-48,65) com-pared with that in the healthy controls (P<0.05) .ReHo in the AD group decreased in the right middle tempo-ral gyrus (45,-34,32) compared with that in the healthy controls (P<0.05).Conclusion Extensive ReHo abnormalities were found in the brains of patients with first-episode,drug-naive depression,and these abnor-malities in spontaneous neural activity may contribute to the neuropathology of adolescent depression.

Objective:To analyze the diagnostic value of thickness ratio between noncompacted and compacted myocardium (NC/C ratio) measured by echocardiography at end-systole and end-diastole comparatively in left ventricular noncompaction (LVNC).Methods:Thirty-five patients with suspected LVNC were collected and underwent conventional (2DE) and left ventricular opacification (LVO) in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from June 2019 to June 2020. The distribution and detection rate of two-layered segments, non-compaction (NC) segments and their NC/C ratios were comparatively analyzed at end-diastole and end-systole using 2DE, LVO and combined techniques respectively. With the diagnostic criteria of end-diastolic NC/C ratio>2.3 or end-systolic NC/C ratio>2.0, echocardiographic results were also recorded and compared with cMRI results.Results:Compared with 2DE, the number of detected segments was increased ( P<0.001), but the numbers of two-layered segments and NC segments were not significantly improved in end-systole using 2DE combined with LVO ( P>0.006). The diagnostic accuracy was not statistically significant ( P>0.05). However, when observing in end-diastole, the detected numbers of 3 kinds of segments were significantly increased using 2DE+ LVO in comparison with 2DE (all P<0.001), and the diagnostic accuracy was also significantly improved ( P<0.05). There were no significant differences in the detected rates of two-layered and NC semgents between 2DE+ LVO and cMRI ( P>0.006). 2DE+ LVO in end-diastole resulted in the highest diagnostic sensitivity (88.9%) and accuracy (85.7%), and also the largest area under ROC curve (0.95). Conclusions:The combination of 2DE and LVO can detect more NC segments, and diagnostic accuracy of end-diastolic NC/C ratio is higher than that in end-systolic in patients with LVNC.

OBJECTIVETo explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.

METHODSClinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software.

RESULTSThe child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother.

CONCLUSIONThe c.455T>C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.

Child, Preschool ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Male ; Mental Retardation, X-Linked ; genetics ; Mutation ; Receptors, AMPA ; genetics

Objective To discuss clinical characteristics of a family with Xia-Gibbs syndrome, test and analyze the mutation of their pathogenic gene, and to explore the clinical and genetic characteristics of Xia-Gibbs syndrome. Methods A patient with unexplained developmental retardation was clinically examined and the medical history of his family was collected. Genetic detection was performed to analyze his genetic causes. Results The proband, who was two-year and 1-month old, displayed unusual facies, hypotonia and unexplained developmental retardation. Brain MRI showed leukodystrophy. Other members of his family had no similar medical history. And the proband was found to carry the de novo mutation of c.1073dupC in AHDC1 gene. Conclusion This is the first case with Xia-Gibbs syndrome caused by AHDC1 mutation in China, which has a great significance in studying the correlation between genotype and phenotype.

With the development of CT and the popularization of health examination, the detection rate of small pulmonary nodules has been improved. Some small pulmonary nodules could be malignant nodules. Surgical resection is the preferred treatment. Therefore, it is an important task for thoracic surgeons to accurately locate pulmonary nodules during surgery and remove nodules accurately on the premise of maximum protection of lung function. At present, the core of preoperative auxiliary localization of pulmonary nodules is the implantation of markers. The commonly used clinical localization methods include hook wire localization, microcoil localization, methylene blue puncture injection localization and biological glue localization. In this paper, the development status, application scope, advantages and disadvantages of existing localization methods are briefly reviewed, which can provide references for clinical application and follow-up research.