Echocardiographic measurements of left ventricular dimensions and function in newborns with omphalocele and pulmonary.

PURPOSE: The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH). METHODS: This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others. RESULTS: There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p < 0.05), EDV (3.5 ml versus 6.8 ml, p < 0.05)] and with worse systolic function [SV (2.3 ml versus 4.2 ml, p < 0.05), and CI (1.7 L/min/m2 versus 2.9 L/min/m2, p < 0.01)]. CONCLUSION: In the cohort of omphalocele patients with PH, lower LVIDd, EDV, SV and CI were associated with mortality. LEVEL OF EVIDENCE: Level III.

Intraoperative hypothermia in the neonate population: risk factors, outcomes, and typical patterns.

The risk factors, outcomes, and typical patterns of intraoperative hypothermia were studied in neonates to better guide the application of insulation measures in the operating room. This retrospective study enrolled 401 neonates undergoing surgery under general anaesthesia with tracheal intubation, including abdominal surgery, thoracic surgery, brain surgery, and others. The study collected basic characteristics, such as age, sex, weight, birth weight, gestational week, primary diagnosis and American Society of Anaesthesiologists (ASA) grade. Perioperative data included preoperative body temperature, length of hospital stay, length of intensive care unit (ICU) stay, intubation time, postoperative bleeding, postoperative pneumonia, postoperative death, and total cost of hospitalization. Intraoperative data included surgical procedures, anaesthesia duration, operation duration, blood transfusion, fluid or albumin infusion, and application of vasoactive drugs. The incidence of intraoperative hypothermia (< 36 °C) was 81.05%. Compared to normothermic patients, gestational week (OR 0.717; 95% CI 0.577-0.890; P = 0.003), preoperative temperature (OR 0.228; 95% CI 0.091-0.571; P = 0.002), duration of anaesthesia (OR 1.052; 95% CI 1.027-1.077; P < 0.001), and type of surgery (OR 2.725; 95% CI 1.292-5.747; P = 0.008) were associated with the risk of intraoperative hypothermia. Patients with hypothermia had longer length of ICU stay (P = 0.001), longer length of hospital stay (P < 0.001), and higher hospital costs (P < 0.001). But there were no association between clinical outcomes and intraoperative hypothermia in the multivariable regression adjusted analysis. The lowest point of intraoperative body temperature was approximately 1 h 30 min. Then, the body temperature of patients successively entered a short plateau phase and a period of slow ascent. The greatest decrease in body temperatures occurred in preterm babies and neonates with preoperative hypothermia. The lowest core temperatures that occurred in neonates with preoperative hypothermia was lower than 35 °C. This study shows that there is a high incidence of intraoperative hypothermia in the neonate population. The intraoperative body temperature of neonates dropped to the lowest point in 1-1.5 h. The greatest decrease in core temperatures occurred in preterm babies and neonates with lower preoperative temperature.

[Recent research on platelet-leukocyte aggregates and their role in the pathogenesis of Kawasaki disease]. / 血小板-ç™½ç»†èƒžèšé›†ä½“åŠå ¶åœ¨å·å´Žç— å‘ç— ä¸­çš„ç ”ç©¶è¿›å±•.

Activated platelets may interact with various types of leukocytes such as monocytes, neutrophils, dendritic cells, and lymphocytes, trigger intercellular signal transduction, and thus lead to thrombosis and synthesis of massive inflammatory mediators. Elevated levels of circulating platelet-leukocyte aggregates have been found in patients with thrombotic or inflammatory diseases. This article reviews the latest research on the formation, function, and detection methods of platelet-leukocyte aggregates and their role in the onset of Kawasaki disease, so as to provide new ideas for studying the pathogenesis of Kawasaki disease.

Intravenous immunoglobulin treatment responsiveness depends on the degree of CD8+ T cell activation in Kawasaki disease.

Kawasaki disease (KD) has become the most common cause of acquired heart disease in children and is also a risk factor for ischemic heart disease in adults. However, Kawasaki disease lacks specific laboratory diagnostic indices. Thus, this study analyzed the T cell activation profiles of Kawasaki disease and assessed their value in the diagnosis of Kawasaki disease and the prediction of intravenous immunoglobulin (IVIG) sensitivity. We analyzed human leukocyte antigen-DR (HLA-DR), CD69 and CD25 expression on peripheral blood CD4+ and CD8+ T cells during the acute phase of KD. We compared the percentages of HLA-DR+/CD69+/CD25+ T cells in the CD4+ and CD8+ T cell populations of IVIG-effective and IVIG-resistant groups. Receiver operating characteristic curves were used to assess the diagnostic value of the above parameters. The median percentage of CD8+HLA-DR+ T cells and the median ratio of CD8+HLA-DR+ T cells/CD8+CD25+ T cells were significantly elevated in the patient group compared with those in the control group during the acute phase of KD. Regarding the diagnosis of Kawasaki disease, the area under the ROC curve was 0.939 for the percentage of CD8+HLA-DR+ T cells. There was a significant difference in the ratio of CD8+HLA-DR+ T cells/CD8+CD69+ T cells between IVIG-resistant patients and IVIG-sensitive patients. Regarding IVIG sensitivity, the area under the ROC curve was 0.795 for it. Excessive CD8+ T cell activation, as well as an imbalance between CD8+ T cell activation and inhibition, underlies the pathogenesis of Kawasaki disease. The percentage of CD8+ HLA-DR+ T cells may be used as an index to diagnose Kawasaki disease. IVIG inhibits CD8+ T cell activation, but excessive CD8+ T cell activation may cause IVIG resistance. The ratio of CD8+HLA-DR+ T cells/CD8+CD69+ T cells may be used as a predictor of IVIG sensitivity.

A new method for evaluating tricuspid valve displacement in children with Ebstein's anomaly: using the annulus and coronary sinus as a reference point.

This study aimed to investigate the reference point for the downward displacement of the posterior and anterior leaflets of the tricuspid valve using echocardiography in children with Ebstein's anomaly. This study enrolled 25 patients with Ebstein's anomaly. The extent of downward displacement of the posterior and anterior leaflets of the tricuspid valve was evaluated by echocardiography using the tricuspid annulus and the coronary sinus as reference points. These results were compared with the surgical findings. The findings showed displacement of the simple septal leaflet in 1 patient, displacement of both the septal and posterior leaflets in 22 patients, displacement of both the anterior and posterior leaflets in 1 patient, and displacement of all the leaflets in 1 patient. Because the septal and posterior leaflets were close to the apex or because the posterior leaflet was nearly absent, the displacement distance of the septal and posterior leaflets could not be measured accurately in two patients. The displacement distance of the septal and posterior leaflets in the remaining 22 patients were 2.08 ± 1.15 and 2.58 ± 1.06 cm, respectively. The displacement distances of the anterior leaflet in two patients were respectively 1.0 and 2.2 cm. These results were similar to those measured during surgery. The direction of the valvular regurgitation flow was anterolateral in the apical four-chamber and apical right heart two-chamber views in patients with the downward displacement of the anterior leaflet. The tricuspid valve annulus and the coronary sinus are ideal reference points for evaluating the downward displacement of the posterior and anterior leaflets of the tricuspid valve. It is critical to evaluate the downward displacement of the anterior leaflet that the direction of the tricuspid regurgitation flow is changed.

Treatment of multisystem inflammatory syndrome in children.

BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C), a relatively uncommon but severe pediatric complication, is associated with coronavirus disease 2019 (COVID-19). A variety of treatment approaches, including intravenous immunoglobulins (IVIGs), glucocorticoids (GCs) and biologic agents, such as anakinra and infliximab, have been described for the management of COVID-19-related MIS-C. Anticoagulant therapy is also important. However, a well-developed treatment system has not been established, and many issues remain controversial. Several recently published articles related to the treatment of MIS-C have been released. Hence, in this review, we identified relevant articles published recently and summarized the treatment of MIS-C more comprehensively and systematically. DATA SOURCES: We reviewed the literature on the treatment of MIS-C through 20 September 2023. The PubMed/Medline, Web of Science, EMBASE, and Cochrane Library databases were searched with the combination of the terms "multisystem inflammatory syndrome", "MIS-C", "PIMS-TS", "therapy", "treatment", "drug", "IVIG", "GCs", "intravenous immunoglobulin", "corticosteroids", "biological agent", and "aspirin". RESULTS: The severity of MIS-C varies, and different treatment schemes should be used according to the specific condition. Ongoing research and data collection are vital to better understand the pathophysiology and optimal management of MIS-C. CONCLUSIONS: MIS-C is a disease involving multiple systems and has great heterogeneity. With the accumulation of additional experience, we have garnered fresh insights into its treatment strategies. However, there remains a critical need for greater standardization in treatment protocols, alongside the pressing necessity for more robust and meticulously conducted studies to deepen our understanding of these protocols. Supplementary file1 (MP4 208044 kb).

Cardiogenic shock: do not forget the possibility of Kawasaki disease.

We report the case of a six-year-old boy who presented with cardiogenic shock due to Kawasaki disease (KD). He was misdiagnosed at first as septic shock. After careful examination, he was diagnosed as KD complicated with acute coronary syndrome, which leads to cardiogenic shock. Cardiogenic shock is often neglected as a complication of KD, and it tends to be misdiagnosed. We hereby call attention to KD, in some cases of which, it can lead to acute coronary syndrome in the acute phase.

Rare hypertension as a result of 17alpha-hydroxylase deficiency.

PURPOSE: To investigate CYP 7A1 gene mutations in Chinese patients with 17alpha-hydroxylase deficiency. METHODS: Clinical data were retrospectively analyzed. CYP17A1 mutations were detected in two cases with 17alpha-hydroxylase deficiency. Genomic DNA was isolated from blood samples and eight primers pairs were used to amplify eight exons and exon-intron boundaries of the CYP17A1 gene. The amplified PCR products were purified by agarose gel electrophoresis and then directly sequenced. Sequencing results were compared to the established human CYP17A1 sequence. RESULTS: Two compound mutations were identified: TAC --> AA at codons 436-438 on exon 6, causing the amino acid missense mutation Y329K/418X; and deletion of the 9-bp sequence GACTCTTTC at codons 487-489 on exon 8, causing deletion of three amino acids (Asp-Ser-Phe). CONCLUSION: D487_F489del and Y329K, 418X CYP17A1 mutations were identified in our two patients. A literature review revealed that the main CYP17A1 mutations in the Chinese population are missense and splicing defects, and exons 8 and 6 are most frequently involved.

Biomarkers of intravenous immunoglobulin resistance and coronary artery lesions in Kawasaki disease.

BACKGROUND: Currently, there are no reliable indicators for predicting intravenous immunoglobulin resistance and coronary artery lesions in the early stage of Kawasaki disease. METHODS: A total of 300 patients with Kawasaki disease were studied retrospectively. Laboratory data were compared between the intravenous immunoglobulin resistant (29 patients) and responsive groups, and between the groups with coronary artery lesions (48 patients) and without coronary artery lesions. RESULTS: The intravenous immunoglobulin resistant group had significantly higher D-dimer, globulin, interleukin-6 and serum ferritin levels in comparison to the intravenous immunoglobulin responder group. D-dimer level had a sensitivity of 87.0% and a specificity of 56.3% for predicting intravenous immunoglobulin resistance at a cutoff point of 1.09 mg/L. Globulin had a sensitivity of 62.1% and a specificity of 82.3% for predicting intravenous immunoglobulin resistance at a cutoff point of 34.7 g/L. Serum ferritin level had a sensitivity of 42.9% and a specificity of 88.8% for predicting intravenous immunoglobulin resistance at a cutoff point of 269.7 ng/mL. The patients with coronary artery lesions had higher D-dimer and tumor necrosis factor-α level. D-dimer level had a sensitivity of 50% and a specificity of 78.6% for predicting coronary artery lesions at a cutoff point of 1.84 mg/L. Based on analysis by multivariate logistic regression, serum ferritin and globulin were independent risks for intravenous immunoglobulin resistance, D-dimer was independent risk for coronary artery lesions. CONCLUSIONS: Elevated serum ferritin, globulin and D-dimer levels are significantly associated with intravenous immunoglobulin resistance in Kawasaki disease. Moreover, serum D-dimer is significantly increased in Kawasaki disease with coronary artery lesions.

Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome.

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.

[Effect of intravenous immunoglobulin and vitamin C on progression of experimental autoimmune myocarditis in mice].

OBJECTIVE: To evaluate the effect of intravenous immunoglobulin (IVIG) and vitamin C on the progression of experimental autoimmune myocarditis(EAM). METHODS: Fifty-two Balb/c mice were randomized into six groups: The blank group received no treatment, the remaining 5 groups were immunized with 100mug emulsified porcine myosin at d 1 and d 7. Different agents were injected from d 1, SVitC group:150 mg/kg*d(-1)vitamin C; LVitC group: 300 mg/kg*d(-1)vitamin C; IVIG group: 1 g/kg*d(-1)IVIG; IVIG+VitC group: 1 g/kg*d(-1)IVIG and 150 mg/kg*d(-1)vitamin C; The control group same volume of normal saline. All mice were sacrificed at d 21, and serum TNF-alpha levels were detected with enzyme linked immunosorbent assay (ELISA). The ratio of heart to body weight(C/W), spleen to body weight(S/W) and kidney to body weigh(R/W) were calculated. The spleens and heart were examined pathologically and/or immunohistochemically. RESULT: Compared with those of control group, inflammatory cells infiltration in the myocardium and calcification in the pericardiume in SVitC and LVitC groups were extenuated. There were inflammatory cells infiltrating in the myocardium sparely and no calcification in the pericardium in IVIG and IVIG+VitC groups. The size of spleens enlarged especially in IVIG and IVIG+VitC groups. White and red pulps of spleens were hyperplastic microscopically. The C/W of treatment groups decreased significantly compared with that of control group. The S/W of therapy groups and control group was significantly higher than that of blank group; and the S/W of IVIG and IVIG + VitC groups was significantly higher than that of SVitC and LVitC groups. The R/W in each groups had no significant difference. The TNF-alpha level in SVitC and LVitC groups was a little lower than that in control group; TNF-alpha level in IVIG and IVIG+VitC groups was significantly lower than that of control group. Wide fluorescence stripe was found along extracellular matrix surrounding the damaged cardiomyocytes of control group. Both density and intensity of fluorescence in SVitC and LVitC groups were lower than those of control group. There were much wider fluorescence stripe and strengthened intensity in IVIG and IVIG + VitC groups. The myofilaments were in wild disorder and sarcomere had severe breakage in control group. Moreover, chondriosome hypertrophy and vacuolar degeneration were found. The damage lessened in SVitC and LVitC groups. Both myofilaments and sarcomeres in IVIG and IVIG + VitC groups were almost normal, and the chondriosome was normal. CONCLUSION: IVIG and vitamin C have some protective and therapeutic effect on the progression of EAM by decreasing pathological damage of myocardium and depressing TNF-alpha production, and IVIG combined with vitamin C is more effective.

[Clinical features of recurrent Kawasaki disease in 20 children].

OBJECTIVE: To investigate the clinical features of recurrent Kawasaki disease (KD) and the relationship of recurrent KD with coronary artery lesions. METHODS: The medical data of 20 children with recurrent KD who were admitted to the Children's Hospital from January 1998 to May 2007 were retrospectively studied. Their clinical features were compared with those of children with initial KD. RESULTS: The incidence of recurrent KD was 1.34% (20/1489). KD relapsed 2 months to 4.6 years (average: 1.2 years) after the first episode in the 20 children. Compared with the initial KD group, the clinical symptoms in the recurrent KD group were incomplete, complicated and less severe. The period of fever, platelet count, C-reactive protein and ESR were remarkably reduced in the recurrent KD group, but the incidence of coronary artery lesions increased significantly compared with the initial KD group (40% vs 25%; P<0.05). CONCLUSIONS: The clinical symptoms of recurrent KD were incomplete in children. Recurrent KD was associated with an increased incidence of coronary artery lesions.

[Percutaneous balloon aortic valvuloplasty for congenital valvular aortic stenosis in children].

OBJECTIVE: To assess the effect of the balloon valvuloplasty for congenital valvular aortic stenosis (AS) in children. METHODS: A total of twenty one children with AS accepted the treatment of percutaneous balloon aortic valvuloplasty (PBAV). One of them complicated with PDA underwent PDA closure by using Amplatzer occluder in the mean time. PBAV could not be accomplished in 3 cases because the catheter could not be advanced into left ventricle and PBAV was not performed in 2 cases due to the gradient pressures across aortic valves less than 50 mm Hg (1 mm Hg = 0.133 kPa). The procedure was completed in 16 cases. The ratios of balloon/valve were 0.98 +/- 0.04 (0.92 - 1.10). RESULTS: 13 cases had more than 50% gradient reduction (81.25%), 2 had 40% - 50% gradient reduction. The follow up period ranged from 3 months to 5 years. The gradient pressures rose to more than 50 mm Hg after follow up in 3 cases and they underwent repeat balloon valvuloplasty procedure or were operated successfully. There was no moderate to severe aortic insufficiency (AI). CONCLUSION: The result of balloon aortic valvuloplasty showed the significant hemodynamic improvement with relative safety in pediatric patients. PBAV provides another choice in comparison with surgery.

[Cardiovascular manifestations in 40 patients with Williams syndrome].

OBJECTIVE: To evaluate the cardiovascular manifestations of Williams syndrome (WS) confirmed by fluorescence in situ hybridization (FISH). METHODS: Between July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were assessed by echocardiography and Doppler echocardiography. RESULTS: Forty out of 71 patients were detected to have Elastin gene locus microdeletion, 25 patients (25/40, 62.5%) had at least one cardiac anomaly; among these patients, supravalvular aortic stenosis (SVAS) was diagnosed in 18 patients (18/25, 72%) and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed in 3 patients (3/25, 12%, 1 was associated with other malformations), isolated pulmonary stenosis in 1 patient (1/25, 4%), isolated coarctation of aorta in 2 patients (2/25, 8%), and hypertension in 2 patients (2/25, 8%), mild aortic regurgitation in 2 patients, mild mitral regurgitation and moderate mitral regurgitation in 3 patients respectively. CONCLUSION: A detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.

[Transcatheter therapy of combined congenital heart diseases in children].

OBJECTIVE: To investigate the methods of interventional catheterization for combined congenital heart disease and to evaluate its efficacy in children. METHODS: From March 1994 to December 2003, 15 cases (6 boys, 9 girls) underwent transcatheter intervention for combined congenital heart diseases. The procedure of transcatheter intervention was as follows: for pulmonary stenosis (PS) and atrial septal defect (ASD) or patent ductus arteriosus (PDA), PBPV first, occlusion of ASD or PDA later; for coarctation of aorta (COA) and PDA, dilation of COA first, occlusion of PDA 4-15 months later; for aortic stenosis (AS) and PDA, PBAV first, occlusion of PDA later; for ventricular septal defect (VSD) and PDA, all occlusions with detachable coils. RESULT: Transcatheter intervention for combined congenital heart diseases was successful in all patients. There was no residual shunt after occlusion immediately apart from 2 cases of PDA which were little residual after occlusion immediately. Follow-up for (3.57 +/-2.61) years, the systolic pressure gradients across pulmonary valve and coarctation were normal by ultrasonic or transcatheter, except AS. There was 3 cases presented postoperative complications: 1 with mechanical haemolysis, 1 with fall off of coil and 1 with arterial embolism, respectively. CONCLUSION: Transcatheter intervention for combined congenital heart diseases could obtain satisfactory results with appropriate indications and procedure manipulations.

[Effect of VEGF gene transfer on the bleomycin-induced pulmonary hypertension in immature rabbits].

OBJECTIVE: To investigate the effect of vascular endothelial growth factor (VEGF) gene transfer on the bleomycin(BLM)-induced pulmonary hypertension in immature rabbits. METHODS: Immature rabbits were divided into 4 groups; control, BLM, liposome and trans-gene groups. The systolic, diastolic and mean pulmonary artery pressure (PASP, PADP, MPAP) were measured by micro-catheter, the pathological changes and the expression of VEGFmRNA and eNOSmRNA of endothelial cells in pulmonary arteries were evaluated by HE stain and in situ hybridization. RESULT: (1) The PAP of BLM and liposome groups was higher than that of control and trans-gene groups. The PASP was 16.5+/-2.9, 25.2+/-7.0, 24.4+/-6.0 and 18.3+/-2.7 mmHg; the PADP was 8.8+/-4.2, 13.1+/-3.8, 13.7+/-4.6 and 10.2+/-2.6 mmHg; the MPAP was 12.1+/-4.0, 18.4+/-4.7, 18.4+/-5.1 and 14.1+/-2.5 mmHg in control, BLM, liposome and trans-gene groups respectively. (2) The thickness of wall increased and the cavity became narrow, and the thickness index (TI) and area index (AI) increased in middle and small pulmonary arteries of BLM and liposome groups. The TI was 0.52+/-0.16, 0.65+/-0.16, 0.63+/-0.11 and 0.55+/-0.13; and the AI was 0.74+/-0.17, 0.84+/-0.14, 0.85+/-0.08 and 0.79+/-0.12 in control, BLM, liposome and trans-gene groups,respectively. (3) The level of VEGFmRNA and eNOSmRNA expression in pulmonary arterial endothelial cells decreased in BLM and liposome groups. The level of VEGFmRNA and eNOSmRNA expression in trans-gene group was higher than that in BLM and liposome groups, but lower than that in control group. VEGFmRNA was 0.83+/-0.09, 0.45+/-0.11, 0.45+/-0.13 and 0.65+/-0.18; eNOSmRNA was 0.79+/-0.12, 0.45+/-0.12, 0.50+/-0.14 and 0.56+/-0.08 in control, BLM, liposome and trans-gene groups, respectively. CONCLUSION: VEGF gene transfer in immature rabbits with BLM-induced pulmonary hypertension could attenuate the increasing of PAP and wall thickness in middle and small pulmonary arteries, and increase the level of VEGFmRNA and eNOSmRNA expression in pulmonary arterial endothelial cells.

[Pathophysiology of bleomycin-induced pulmonary hypertension in immature rabbits].

OBJECTIVE: To investigate the evolution of pulmonary hypertension induced by intratracheal bleomycin (BLM) in immature rabbits. METHODS: Immature rabbits were divided into control and BLM groups. Two and four weeks after intratracheal normal saline or BLM, the systolic, diastolic and mean pulmonary artery pressure (PASP, PADP, MPAP) were measured by micro-catheter, the pathological changes and the expression of VEGFmRNA and eNOSmRNA of endothelial cells in pulmonary arteries were evaluated by HE and in situ hybridization. RESULTS: Pulmonary artery pressure was elevated 2 weeks and 4 weeks after intratracheal BLM. Two weeks after treatment PASP was (16.5 +/- 2.9 compared with 25.2 +/- 7.0) mmHg, PADP (8.8 +/- 4.2 compared with 13.1 +/- 3.8) mmHg, MPAP (12.1 +/-4.0 compared with 18.4 +/-4.7) mmHg in control and BLM groups, respectively; meanwhile 4 weeks after treatment, PASP was (16.7 +/-2.3 compared with 23.8 +/-7.1) mmHg, PADP (7.3 +/-1.5 compared with 13.8 +/-6.6) mmHg, MPAP (11.3 +/- 1.9 compared with 17.6 +/- 6.3) mmHg in control and BLM groups, respectively. The thickness of arterial wall increased and the cavity became narrow, and the thickness index (TI) and area index (AI) increased in middle and small pulmonary arteries 2 weeks and 4 weeks after intratracheal BLM. Two weeks after treatment TI was 0.52 +/- 0.16 compared with 0.65 +/- 0.16, AI 0.74+/- 0.17 compared with 0.84 +/- 0.14 in control and BLM groups, respectively; meanwhile 4 weeks after treatment TI was 0.52 +/- 0.11 compared with 0.64 +/- 0.15, AI 0.71 +/- 0.15 compared with 0.85 +/- 0.10 in control and BLM groups. The levels of VEGFmRNA and eNOSmRNA expression in pulmonary arterial endothelial cells decreased 2 weeks and 4 weeks after intratracheal BLM. Two weeks after treatment VEGFmRNA was 0.83 +/- 0.09 compared with 0.45 +/- 0.11, eNOSmRNA 0.79 +/- 0.12 compared with 0.45 +/- 0.12 in control and BLM groups, respectively; meanwhile 4 weeks after VEGFmRNA was 0.81 +/- 0.19 compared with 0.46 +/- 0.15, eNOSmRNA 0.89 +/- 0.14 compared with 0.44 +/- 0.12 in control and BLM groups, respectively. CONCLUSION: Intratracheal bleomycin may induce the pathological changes of pulmonary arteries and decrease the expression of VEGFmRNA and eNOSmRNA in immature rabbits, which results in pulmonary hypertension.

Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.

OBJECTIVE: We discussed the correlation between SNP loci (rs198389 and rs198388) in brain natriuretic peptide gene (NPPB) and susceptibility to congenital heart diseases (CHD). METHOD: Multiplex SNaPshot technique was adopted for profiling of SNP genotypes at loci rs198389 and rs198388 in NPPB gene among 150 cases of CHDand 150 normal controls. RESULTS: The distribution frequency of 3 genotypes (AA, AG and GG) at locus rs198389 was 40.7%, 36.0% and 23.3% in CHD group, respectively, showing significant differences compared with the normal controls (P<0.001). Gallele was associated with higher risk of CHD (OR=2.48, 95% CI=1.77-3.48). The distribution frequency of CC, CTand TT genotypes at locus rs198388 was 60.7%, 17.3% and 22.0% in CHD group, respectively, also showing significant differences compared with the normal controls (P<0.001). C allele could increase the risk of CHD (OR=1.92, 95% CI=1.48-2.48). CONCLUSION: SNP loci rs198389 and rs198388 in NPPB gene were correlated with genetic susceptibility to CHD.

Systematic confirmation study of GWAS-identified genetic variants for Kawasaki disease in a Chinese population.

Genome-wide association studies (GWASs) have identified multiple single nucleotide polymorphisms (SNPs) associated with Kawasaki disease (KD). In this study, we replicated the associations of 10 GWAS-identified SNPs with KD in a Han Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression, and cumulative effect of non-risk genotypes were also performed. Although none of the SNPs reached the corrected significance level, 4 SNPs showed nominal associations with KD risk. Compared with their respective wild type counterparts, rs1801274 AG+GG genotypes and rs3818298 TC+CC genotypes were nominally associated with the reduced risk of KD (OR = 0.77, 95% CI = 0.59-0.99, P = 0.045; OR = 0.74, 95% CI = 0.56-0.98, P = 0.038). Meanwhile, rs1801274 GG genotype, rs2736340 CC genotype or rs4813003 TT genotype showed a reduced risk trend (OR = 0.57, 95% CI = 0.35-0.93, P = 0.024; OR = 0.46, 95% CI = 0.26-0.83, P = 0.010; OR = 0.64, 95% CI = 0.43-0.94, P = 0.022), compared with rs1801274 AG+AA genotypes, rs2736340 CT+TT genotypes or rs4813003 TC+CC genotypes, respectively. Furthermore, a cumulative effect was observed with the ORs being gradually decreased with the increasing accumulative number of non-risk genotypes (Ptrend<0.001). In conclusion, our study suggests that 4 GWAS-identified SNPs, rs2736340, rs4813003, rs3818298 and rs1801274, were nominally associated with KD risk in a Han Chinese population individually and jointly.