Objective To explore the causes,clinical characteristics and prognosis of children′s completely at-rioventricular block(CAVB).Methods The clinical data of 73 patients with CAVB were analyzed retrospectively from January 2004 to December 201 3 at the Cardiology Department,Nanjing Children′s Hospital Affiliated to Nanjing Medi-cal University.Within those 73 patients,34 patients were male and the others were female,from 3 months old to 1 2.5 years old,the mean age of 6 years.Results There were 21 congenital CAVB patients and 52 acquired CAVB patients with myocarditis undergoing ventricular septal defect (VSD)closure operation.All congenital CAVB patients were re-fractory to drug therapy.Electrocardiogram and echocardiogram were performed in 1 9 cases without clinical symptoms during follow -up,but 2 cases had permanent pacemaker implanted.Among 27 fulminant myocarditis,Adams -Stokes attacks were found in 1 5 cases,3 cases had Adams -Stokes attack in 1 5 cases with sequelae of myocarditis,and 2 out of 6 cases undergoing VSD closure operation had Adams -Stokes attack,and other 4 cases without clinical symptoms were followed up periodically.The acquired CAVB patients were given energy composition and intravenous megavitamin C. The cases with fulminant myocarditis were given adrenal cortical hormone and intravenous gamma globulins simulta-neously.A total of 27 acquired CAVB patients were implanted temporary pacemaker and 5 with permanent pacemaker. Among 52 acquired CAVB patients,31 cases were cured,9 cases were improved,1 1 cases were ineffective,and 1 case died.Conclusions Most congenital CAVB children without clinical symptoms need clinical follow -ups.Myocarditis is a major cause of acquired CAVB.The CAVB prognosis caused by fulminant myocarditis may be related to antimely im-planting the temporary pacemaker timely.Permanent pacemaker should be implanted in patients who have no response to drug therapy with frequent Adams -Stokes or heart failure.

Mutations in the CACNA1C gene which encodes the α1C subunit of voltage dependent l-type Ca²⁺ channel can cause mental and cardiovascular diseases.It is the pathogenic gene of Timothy syndrome.Its cardiovascular-system phenotype mainly includes long QT syndrome, Brugada syndrome, short QT syndrome, etc.In recent years, it has been found that CACNA1C gene mutations can also lead to non-syndromic phenotypes, including congenital heart disease, cardiomyopathy, etc, further enriching the clinical phenotype of CACNA1C gene mutation.Now, the recent advances in heart disease phenotypes and mechanisms involved in CACNA1C gene mutations are reviewed.

Objective To explore the application value of dipstick dye immuno-assay (DDIA) for screening the schistosomiasis chemotherapy targets in the low endemic areas of Xiaogan City.Methods The residents aged 6-65 years in a village in the low endemic areas of schistosomiasis of Xiaogan City were selected and tested by the methods of fecal examination,DDIA,indirect hemagghitination (IHA),enzyme linked immunosorbent assay (ELISA) and inquiry,and the results of fecal examination were determined as the gold standard.Results The Youden' s indices of IHA,DDIA,ELISA and inquiry were 0.74,0.72,0.62 and 0.30,respectively,and the consistency rates of them were 93.38%,91.99%,81.53% and 70.03%,respectively.It took 16.70,4.95,4.12,5.63 and 2.44 Yuan screening one patient with the fecal examination,IHA,DDIA,ELISA and inquiry,respectively.Conclusion The validity of DDIA with simple operation and low cost for screening the schistosomiasis chemotherapy targets is satisfying,and the method is suitable for large scale screening in low endemic areas.

Objective:To explore the risk factors of thrombocytopenia in children with patent ductus arteriosus (PDA) after transcatheter closure, and to establish a prediction model of thrombocytopenia after transcatheter closure of PDA.Methods:A total of 39 PDA children with thrombocytopenia after transcatheter closure treated in Children′s Hospital of Nanjing Medical University from November 2016 to January 2020 were selected.During the same period, 138 PDA children without thrombocytopenia after transcatheter closure were included in the control group. Logistic regression model was used to explore the possible risk factors of thrombocytopenia after transcatheter closure in PDA children, and a random forest model was established to predict the occurrence of thrombocytopenia after transcatheter closure of PDA. Results:After transcatheter closure of PDA, children developed thrombocytopenia within 1 to 7 days, and the platelet count recovered within 2 to 22 days. Logistic regression model suggested that the diameter of pulmonary artery end of arterial catheter ( OR=9.54, 95% CI: 2.08-48.84, P=0.004)and preoperative platelet count( OR=0.99, 95% CI: 0.98-0.99, P=0.001)were correlated with the occurrence of thrombocytopenia after transcatheter closure of PDA.The random forest model indicated that PDA inner diameter was the most important factor for predicting the occurrence of thrombocytopenia after transcatheter closure of PDA. Conclusions:A large diameter of arterial duct is an important risk factor and increased preoperative platelet count is a protective factor for thrombocytopenia after transcatheter closure of PDA.Diameter is of the greatest significance in predicting the occurrence of thrombocytopenia after transcatheter closure of PDA.

Recent studies have found that children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs), including cognitive, adaptive, motor, speech and autism spectrum disorders.Structural and functional neuroimaging has indicated that brain abnormalities in children with CHD might be caused by an in utero developmental insult.Specific genetic abnormalities, particularly copy number variants(CNVs), have been increasingly implicated in both CHD and NDDs.Variations in genes involved in apolipoprotein E production, the Wnt signaling pathway, and histone modification, as well as in the 1q21.1, 16p13.1-11 and 8p23.1 genetic loci, are associated with CHD and NDDs.Understanding these associations is important for risk stratification, disease classification, improving screening and pharmacologic management of individuals with CHD.

Clinical data and follow-up of a case of congenital disorder of glycosylation type Ia (CDG-Ia) combined with dilated cardiomyopathy admitted to the Department of Cardiology, Children′s Hospital of Nanjing Medical University were analyzed retrospectively.The 5-year-old female patient was admitted in December 2016 due to recu-rrent shortness of breath for 2 months.Clinical symptoms and signs included repeated attacks of shortness of breath, physical retardation, malnutrition, binocular esotropia, multiple episodes of hypoglycemia, hepatosplenomegaly, hypotonia and other multi-system damages.Cardiac echocardiography suggested the feature of dilated cardiomyopathy, including the significant enlargement of the left ventricle, and decreased systolic function.Genetic testing revealed a compound heterozygous mutation in the PMM2 gene, and as a result, the patient was diagnosed as CDG-Ia.The patient′s condition improved after symptomatic treatments such as Cedilanid, Dopamine, Dobutamine, Furosemide, as well as support treatments like myocardium nutrition, blood sugar maintenance, liver protection, etc.After discharge, the patient was given oral Digoxin, Betaloc, Captopril and diuretics, and hypoglycemia-controlling agents.The patient was followed up every 3-6 months.After more than 2 years of follow-up, the heart function and heart enlargement gradually returned to normal.During the Corona Virus Disease 2019 outbreak, self-withdrawal continued for 2 months.Re-examinations showed decreased cardiac function and enlarged left ventricle again.Medications were resumed again, and the patient was followed up closely.This case report suggested that CDG-Ia may be associated with dilated cardiomyopathy, and the cardiac phenotype may be improved by symptomatic supportive treatment.

Acute myeloid leukemia (AML) is a common malignant disease of the hematological system, with high EVI1 expression accounting for 8%-10% of adult AML. Studies have shown that high EVI1 expression plays an important role in the treatment and prognosis of AML. In recent years, researchers have continuously revealed the structure and role of EVI1, but its mechanism of mediating AML has not been fully clarified. Therefore, systematically exploring the role of EVI1 in AML may provide a useful reference for the precise treatment of AML patients with high EVI1 expression.

Objective To analyze the expression of N-MYC and N-MYC downstream regulated gene-1(NDRG1)in gastric cancer tissues,and to assess their effects on biological characteristics of gastric cancer cells.Methods Paired of gastric cancer tissues and adjacent normal tissues resected from 82 cases of patholog-ically confirmed gastric cancer who underwent surgical treatment in the hospital from January 2021 to May 2023 were collected.Gastric cancer tissues and adjacent normal tissues of 82 patients who were surgically re-sected and pathologically diagnosed with gastric cancer in the hospital from January 2021 to May 2023 were collected.Real-time quantitative PCR(qPCR)was used to detect the relative mRNA expression levels of N-MYC and NDRG1,and clinical data of the patients were collected.The correlation between the mRNA expres-sion of N-MYC and NDRG1 and clinicopathological features of the patients was discussed.NCI-N87 cells in logarithmic growth phase were selected and cultured in vitro.N-MYC interference plasmid(si-N-MYC)and its negative control(si-NC)was transfected into NCI-N87 cells,respectively,which were recorded as si-NC group and si-N-MYC group.Moreover,si-N-MYC was co-transfected into NCI-N87 cells with anti-NC and an-ti-NDRG1,respectively,and denoted as si-N-MYC+anti-NC group and si-N-MYC+anti-NDRG1 group.CCK-8 assay was used to detect cell proliferation activity,Transwell assay was used to detect cell invasion ability,and Western blotting assay was used to detect N-MYC and NDRG1 protein expression in cells.Results The relative expression of N-MYC mRNA in gastric cancer tissues was higher than that in paracancer tissues(P＜0.05),and the relative expression of NDRG1 mRNA was lower than that in paracancer tissues(P＜0.05).There were significant differences in the expression of N-MYC and NDRG1 mRNA in patients with different TNM stages,lymph node metastasis and distant metastasis(P＜0.05).Compared with the si-NC group,the cell proliferation and invasion ability of the si-N-MYC group were decreased(P＜0.05),and the expression of NDRG1 protein was down-regulated(P＜0.05).Compared with si-N-MYC+anti-NC group,cell proliferation and invasion ability of si-N-MYC+anti-NDRG1 group were increased(P＜0.05).N-MYC could target and regulate NDRG1,and knocking down NDRG1 could reverse the biological effects of N-MYC on gastric cells.Conclusion In gastric cancer tissue,N-MYC mRNA expression is upregulated and NDRG1 mRNA expression is downregulated,both of which play important roles in the regulation of malignant biological behaviors such as proliferation and invasion of gastric cancer cells.