[show abstract][hide abstract] ABSTRACT: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme for folate metabolism in humans; it is encoded by the MTHFR gene. Several studies have assessed the association between MTHFR C677T polymorphism and the risk of congenital heart defects (CHDs), while the results were inconsistent.
Multiple electronic databases were searched to identify relevant studies published up to July 22, 2012. Data from case-control and TDT studies were integrated in an allelic model using the Catmap and Metafor software. Twenty-nine publications were included in this meta-analysis. The overall meta-analysis showed significant association between MTHFR C677T polymorphism and CHDs risk in children with heterogeneity (P heterogeneity = 0.000) and publication bias (P egger = 0.039), but it turned into null after the trim-and-fill method was implemented (OR = 1.12, 95% CI = 0.95-1.31). Nevertheless, positive results were obtained after stratified by ethnicity and sample size in all subgroups except the mixed population. For mothers, there was significant association between the variant and CHDs without heterogeneity (P heterogeneity = 0.150, OR = 1.16, 95% CI = 1.05-1.29) and publication bias (P egger = 0.981). However, the results varied across each subgroup in the stratified analysis of ethnicity and sample size.
Both infant and maternal MTHFR C677T polymorphisms may contribute to the risk of CHDs.
PLoS ONE 01/2013; 8(3):e58041. · 3.73 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of this study was to investigate the expression of receptor for advanced glycation end products (RAGE) on the surface of circulating endothelial cells (CECs) in patients with Kawasaki disease (KD).
The positive rate of RAGE on the surface of CECs (CECs-RAGE/CECs) and the fluorescence intensity of RAGE on the surface of CECs (FI-RAGE-CECs) were evaluated in 89 patients with KD in the acute stage (A-KD), subacute stage (SA-KD), or convalescent stage (C-KD).
CECs-RAGE/CECs and the FI-RAGE-CECs increased significantly in patients with KD. The CECs-RAGE/CECs was significantly higher in C-KD patients with coronary artery lesions (CALs) than in those without CALs. The FI-RAGE-CECs level was significantly higher in SA-KD and C-KD patients with CALs than in A-KD patients. In SA-KD and C-KD patients, the CECs-RAGE/CECs and FI-RAGE-CECs levels decreased in intravenous immunoglobulin (IVIG)-respondent patients but increased progressively in IVIG-resistant patients and were significantly higher in IVIG-resistant patients than in IVIG-respondent patients.
The results suggest that the expression levels of RAGE on the surface of CECs are upregulated in KD patients, and that the upregulated expression levels of RAGE on the surface of CECs can be aggravated in SA-KD and C-KD patients with CALs, and also in IVIG-resistant SA-KD and C-KD patients. The RAGE expression on CECs is involved in the pathophysiology of KD.
Pediatric Research 02/2012; 71(6):720-4. · 2.67 Impact Factor
[show abstract][hide abstract] ABSTRACT: Anomalous origin of the pulmonary artery (AOPA) from the aorta is a rare congenital heart malformation. This report describes a case of AOPA from the abdominal aorta in association with an aberrant right subclavian artery and a patent ductus arteriosus, which never has been reported previously in the literature.
[show abstract][hide abstract] ABSTRACT: Congenital diverticulum of the ventricle is a rare disease, but most cases of congenital left ventricular diverticula are asymptomatic. We present a child with congenital left ventricular diverticulum whose routine electrocardiographic examination showed T-wave inversion in inferior and V4 to V6 leads. He was successfully repaired surgically.
[show abstract][hide abstract] ABSTRACT: The purpose of this study was to investigate the expression of S100A12 on the surface of circulating endothelial cells (CECs) in children with Kawasaki disease (KD) and the correlations between S100A12 and coronary artery lesions (CALs). The ratio of CECs to mononuclear cells (CECs/MNC), the positive rate of S100A12 on CECs surface (CECs-S100A12/CECs), and the fluorescence intensity of S100A12 on CECs surface (FI-S100A12-CECs) were evaluated respectively in 42 patients with acute stage (A-KD), subacute stage (SA-KD) and convalescent stage KD (C-KD). The CECs/MNC ratio increased significantly in patients with A-KD and SA-KD with CALs. The CECs-S100A12/CECs rate and FI-S100A12-CECs level were significantly higher in patients with KD than in the controls. The FI-S100A12-CECs level decreased to near half levels in patients with SA-KD and C-KD without CALs, but increased continuously in patients with SA-KD with CALs. The CECs/MNC ratio and FI-S100A12-CECs level in patients with SA-KD with CALs were significantly higher than in patients with SA-KD without CALs. The FI-S100A12-CECs level was significantly higher in patients with C-KD with CALs than in C-KD without CALs. The S100A12 expression on the CECs surface increased significantly in patients with KD and persisted for a longer time in patients with CALs, suggesting that the S100A12 expression on CECs may be involved in the development of CALs.
Pediatric Research 05/2010; 68(2):165-8. · 2.67 Impact Factor