ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
Mutations in the CACNA1 C gene which encodes the α1 C subunit of voltage dependent Ⅰ-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.
ABSTRACT
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.
ABSTRACT
Objective To investigate the effect of alteration of CRELD1 gene expression on the related genes in the endocardial cushion development.Methods Over-expression and silence of CRELD1 gene were realized by the construction of lentiviral vector.Afterwards,the lentiviral vectors were used to infect the human fetal lung fibroblasts (HFL)-I.All of the cells were divided into the following 5 groups:the blank control group,the negative control group of interference,the interference group,the negative control group of over-expression,and the over-expression group.Western blot and real-time fluorescent quantitative polymerase chain reaction were applied to examine the mRNA and protein expression of CRELD1,Sox9,Aggrecan,Scleraxis and Tenascin-C.Results The DNA sequences of 2 recombinant plasmids pLV3-shRNA-CRELD1 and pLV4-CRELD1 matched very well with those which were designed according to the DNA sequence analysis.HFL-I was successfully infected with lentiviral vectors and displayed fluorescent green light under inverted fluorescence microscope.The results of real-time PCR detection and Western blot test were consistent:expressions of Sox9 and Aggrecan in the interference group were significantly higher than those in the negative control group of interference,while the expressions of the 2 genes in the over-expression group were significantly lower than those in the negative control group of over-expression.Expressions of Scleraxis increased in both the interference group and the over-expression group when compared with the negative control groups respectively.Compared to the corresponding negative control groups,Tenascin-C expression decreased markedly in the interference group,whereas it increased significantly in over-expression group.Conclusions CRELD1 gene has negative effect on the expression of the related genes Sox9 and Aggrecan in the endocardial cushion development,whereas it has positive effect on the Tenascin-C expression.It serves as a theoretical framework to illustrate the effect of CRELD1 gene on the atrioventricular septal defect.
ABSTRACT
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.
ABSTRACT
Objective To investigate the characteristics of the newly discovered tricuspid injury during the fol-low -up of the patients with interventional transcatheter closure for perimembranous ventricular septal defect (VSD). Methods A retrospective analysis of clinical data was performed in the successful completion of membranous VSD in-tervention from March 2003 to April 2015,and 11 cases of serious tricuspid injury in children were found during the fol-low -up.Results Among 11 children,10 cases underwent surgery again,and in 7 cases of them with pseudoaneurysm of perimembranous septum,the occluders were deviated toward the right ventricul which caused valvular inadequacy for plate winding closures,extrusion and wear of tricuspid chordae and /or leaflet by right ventricul(RV)disc.Among them,1 case was caused by leaflet fusion tear and tricuspid valve insufficiency;3 cases without pseudoaneurysm were caused by a spindle like RV disc recovery structure protruding into the right ventricle,and then the disc squeezed the tricuspid tendinous cord or leaflet and the right ventricular disc nut wrapped tendon of tricuspid valve finally leading to tricuspid valve insufficiency.There was a small amount of tricuspid regurgitation after surgery;the cardiac size and car-diac function returned to normal.One case did not receive surgery,and at present the right atrium and right ventricle were significantly enlarged,and the activity was limited.Conclusions Tricuspid injury discovered newly after perimem-branous VSD interventional therapy is more common in pseudoaneurysm with large tumor occluding the right ventricular disc resulting in poor formation,and it is important to consider these factors in choosing the size of the occluder and the operation.Long term follow -up mechanism should be established for the treatment of VSD after interventional therapy.
ABSTRACT
ObjectiveTo investigate the association between endothelial NO synthase (eNOS) gene G10T polymorphism and the susceptibility of sporadic congenital heart disease (CHD).MethodsThe genotype oneNOS G10T locus was detected and compared in 1323 children with sporadic CHD and 1323 non-CHD children.ResultsCompared with the CC genotype, the AA genotype signiifcantly increased the risk of CHD (adjustedOR=1.42, 95%CI=1.01-2.04). Compared with the CC/AC geno-type, the AA genotype signiifcantly increased the risk of CHD (adjustedOR=1.39, 95%CI=1.08-1.92). Based on stratiifed analy-sis, the AA genotype was associated with the susceptibility of perimembranous ventricular septal defects (adjustedOR=1.56, 95%CI=1.17-2.47).ConclusionsIn Chinese population, theeNOS G10T polymorphism may increase the susceptibility of sporadic CHD.
ABSTRACT
Objective To determine the origin of cord serum leptin and its relationship with neonatal anthropometry. Methods Sixty five women and their babies took part in this prospective cohort study. Blood was taken from the women just before delivery and from the umbilical cord of their babies at delivery. Serum leptin was measured by radio immunoassay. Neonatal anthropometric measurements were recorded within 48 hours after delivery. Linear regression analysis was used to explore the relationship between serum leptin concentrations and anthropometric measures and multiple regression analysis then applied to determine which variables remained independently associated with leptin. Results The leptin concentration ( ?s )in maternal serum was (19.93?7.21) ng/mL and in cord blood was (10.50?3.45) ng/mL. Cord leptin levels correlated with placental weight, neonatal birthweight, skinfold thickness and ponderal index but not with maternal leptin levels. The correlation with Placental weight and neonatal birthweight remained significant after multiple regression analysis. Conclusions Relatively big serum leptin concentration gradient between mother and umbilical vessels indicates that placenta might play an important role in leptin production. We hypothesize that leptin might play an important role during pregnancy and fetal development.
ABSTRACT
Objective Study the effect of NMDA receptor antagonist GAPA on the [Ca 2+ ]i of the bilirubin precipitated brain tissue. Methods 10 ug/g of GAPA was administrated peritoneally to Gunn rat with bilirubin induced encephalopathy, brain tissue suspensions was prepared, Fura 2/AM was loaded. the neural cytosolic Ca 2+ was measured by flurescence imaging analysis. Results The concentration of neural cytosolic Ca 2+ in bilirubin precipitated brain tissue was significantly more than that in the control group; NMDA receptor antagonist GAPA could significantly decrease the cytosolic Ca 2+ overload. Conclusion Cytosolic Ca 2+ overload was found in the bilirubin precipitated brain tissue. NMDA receptor antagonist GAPA could prevent the cytosolic Ca 2+ overload in bilirubin induced brain tissue.
ABSTRACT
Objective To study the role of placental leptin in intrauterine cord leptin production and its relationship with neonatal anthropometry. Methods Forty women and their babies were enrolled in this study. Placental tissue was obtained from mothers and assayed for leptin mRNA by reverse transcription/polymerase chain reaction (RT/PCR). Blood was taken from the umbilical cord of the babies at delivery. Serum leptin was measured by radio-immunoassay. Neonatal anthropometric measurements were recorded within 48 hours after delivery. Linear regression analysis was used to explore the relationship between placental leptin mRNA, serum leptin concentrations and anthropometric measures. Results Placental tissue expressed leptin mRNA at comparable or greater levels than adipose tissue. The placenta of the small for gestational age (SGA) neonates expressed leptin mRNA at significantly lower levels than that of the appropriate for gestational age (AGA) neonates (P=0.042), while the placenta of the large for gestational age (LGA) neonates expressed leptin mRNA at significantly higher levels than that of the AGA neonates (P=0.03). Placental leptin mRNA expression levels correlated with leptin concentrations in cord blood (r=0.61), newborn birth weight (r=0.60) and Ponderal Index (r=0.56). Conclusions Placenta provides a source of leptin for the growing fetus, and this placental leptin might be a growth factor in intrauterine fetal development.
ABSTRACT
With the development of society and medical science,the medical arena should develop with the times,transform medical ethics idea, construct new medical ethics view to unceasingly promote the medical ethics progress and the comprehensive,coordinated, and sustainable development of medical industry.This article discussed the principle,significance and several related problems of new medical ethics view in order to make direct instruction for the constnuction of new medical ethics view.