Objective To select the tag SNPs of TLR2 gene in the Chinese population with bioinformatics techniques.Methods We ascertained the assayed scope of the TLR2 gene with the aid of NCBI database and downloaded SNP genotype data of TLR2 gene in the Chinese population from Hapmap database.Then Haploview (version 4.0) was used to calculate linkage disequilibrium (LD) statistics.Haplotype blocks were constructed throughout the TLR2 gene according to the upper and lower 95% confidence bound of the D'value.Meanwhile,we selected the tag SNPs based on r~2 values and the LOD value between SNPs and picked up the representative haplotypes in accordance with the proportion of each haplotype in the haplotype blocks,respectively.Results We constructed 2 haplotype blocks within the TLR2 gene and selected 3 tag SNPs containing 3013 A/G,19216 T/C and 22215 G/T in the Chinese population.Meanwhile,we identified the representative haplotypes of which the tag SNP would be on behalf of every haplotype block.Conclusion The SNPs of 3013 A/G,19216 T/C and 22215 G/T,the most representative SNPs in the whole TLR2 gene in the Chinese population,could be selected as tag SNPs to guide their association studies between the TLR2 gene and sepsis.

OBJECTIVE: To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation. METHODS: The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out. RESULTS: Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR. CONCLUSION Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Objective:To investigate the risk factors of fulminant myocarditis in children.Methods:The clinical data of 67 children with clinical diagnosis of viral myocarditis from January 2015 to December 2018 in our hospital were retrospectively analyzed.The children were divided into fulminant myocarditis group( n=13)and common myocarditis group( n=54). The clinical data of gender, age, history of pre-infection, clinical manifestations, laboratory tests, electrocardiogram, echocardiography, and imaging findings were compared between the two groups.The multiple Logistic regression analysis was used to identify the independent risk factors of fulminant myocarditis. Results:(1)Seven cases(53.8%)died in the fulminant myocarditis group, 4 cases(30.8%) of them died within 24 hours after admission, and all the children in the common myocarditis group improved and discharged.(2)The incidences of facial cyanosis, abdominal distension, convulsions, and chills were higher in the fulminant myocarditis group than those in the common myocarditis group( P<0.05). (3)The level of creatinekinase-MB, lactate dehydrogenase, α-hydroxybutyric dehydrogenase and aspartate transferase in the fulminant myocarditis group were higher than those in the common myocarditis group( P<0.05). (4)On electrocardiogram, QRS wave duration in the fulminant myocarditis group was longer than that in the common myocarditis group[118(82, 127)ms vs.62(62, 122)ms, P<0.05]. The incidences of ventricular tachycardia in the fulminant myocarditis group was higher than that in the common myocarditis group( P<0.05). (5)In the fulminant myocarditis group, the incidences of left ventricular ejection fraction(LVEF)decreased, the left ventricular short axis fraction shortening(LVFS), and the incidence of left ventricular enlargement were higher than those in the common myocarditis group[92.3%(12/13)vs.18.5%(10/54), 84.6%(11/13)vs.9.3%(5/54), 76.9%(10/13)vs.13.0%(7/54), P<0.05]. Chest X-ray examination of the fulminant myocarditis group showed that the incidences of heart shadow enlargement and pulmonary blood stasis were higher than those in the common myocarditis group( P<0.05). (6)Multiple Logistic regression analysis revealed that LVEF reduction( OR=19.015, 95% CI 1.456-248.348, P=0.025), LVFS reduction( OR=18.691, 95% CI 2.062-169.453, P=0.009)and prolonged QRS wave duration( OR=1.040, 95% CI 1.001-1.082, P=0.046) were independent risk factors for fulminant myocarditis. Conclusion:The early mortality of fulminant myocarditis is high in children, and the LVEF reduction, LVFS reduction and prolonged QRS wave duration are independent risk factors for fulminant myocarditis.

Objective: To investigate the effects of physical activity (PA) intensity and sedentary behavior (SB) on calcanues bone mineral density (BMD) in preschool children, so as to provide a basis for rationalizing the daily physical activity of preschool children to promote bone health. Methods: A total of 673 pre school children aged 3-6 years from nine kindergartens in Pingxiang City, Ganzhou City and Yingtan City of Jiangxi Province, were selected from September to December 2021 by using the whole stratified cluster random sampling method. The PA levels and SB were measured by using a three axis acceleration sensor, and left calcanues BMD was measured by an ultrasound bone densitometer. Multiple linear regression was used to explore the effects of changes in PA on calcanues BMD in pre school children of all ages. Results: Of the 673 preschoolers surveyed, 498 (74.0%) achieved an average of ≥60 min of moderate to vigorous physical activity (MVPA) per day, there were 265 boys (71.2%), and 233 girls ( 77.4 %). The difference between genders was not statistically significant ( χ 2=2.77, P >0.05). There was no statistically significant difference in the BMD test of the calcaneus bones of preschoolers by gender ( Z=0.42, P >0.05). The difference in BMD results of pre school children with 3, 4, 5 to 6 years was statistically significant ( H=2.65, P <0.05). Correlation analysis revealed a negative correlation between SB duration and calcaneus BMD ( r =-0.13), and a positive correlation between low intensity physical activity (LPA) duration, MVPA duration, and calcaneus BMD ( r =0.14, 0.25 ) ( P <0.05). Multivariate linear regression analysis showed that SB duration negatively correlated with calcaneus BMD, whereas LPA and MVPA duration positively correlated with calcaneus BMD ( P <0.05). Conclusions MVPA duration is positively correlated with the growth of BMD in the heel bone and negatively correlated with SB. The kindergartens can adjust their curricula according to the physical and mental developmental characteristics, gender and age differences of pre school children, increase the time of outdoor activities, and reduce the sedentary time to promote the bone health of young children.

Pulmonary arterial hypertension (PAH) is a severe, progressive disease leading to right ventricular failure and finally death. Lung transplantation is recommended for PAH patients who do not respond to targeted drug combination therapy or World Health Organization functional class (WHO FC) Ⅲ or Ⅳ. However, only 3% of PAH patients can recieve the lung transplantation. A novel implantable interatrial shunt device (ISD) can create a relatively fixed right-to-left shunt established by balloon atrial septostomy (BAS). The device may decompress the right sided chambers, facilitate left heart filling, improve organ perfusion and reduce the likelihood of syncope, acute pulmonary hypertensive crisis and death. The systemic oxygen transport improves despite hypoxemia. Implantation is simple, feasible and safe, and the X-ray time and operation time are short. There is no severe complication or thrombosis during the mid-term follow-up of the clinical studies and the device remained patent. The syncope symptoms, six-minute walk distance, cardiac index and systemic oxygen transport improve significantly in the patients. ISD may be currently the last alternative treatment to improve symptoms and prolong survival in currently drug-resistant patients with severe PAH.