Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe association...Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe associations with maternal and infant factors in order to identify possible risk factors. Cases (N = 255) were children up to two years of age whose heart malformations were confirmed by echocardiography;they were enrolled at the Cardiology Department of the Pediatric Hospital of Cairo University. Controls (N = 155) were free of congenital heart malformations, matched to the cases by age, and recruited from outpatients of the same hospital. Mothers of cases (97%) and controls (89%) provided consent to participate in an interview about their medical, familial, and occupational histories. Odds ratios (OR) and exact 95% confidence intervals (CI) assessed the magnitude and statistical significance of case-control differences. Cases were divided into two groups based on the presence of d-transposition of the great arteries (TGA): there were 139 with TGA and 116 with normally-related great arteries (NGA). Maternal diabetes prevalence was elevated in both the TGA (OR = 3.4) and NGA (OR = 5.5) subgroups. Several agricultural factors were associated with increased risk: raising animals (for TGA: OR = 2.4, 95% CI 1.2-4.6), raising poultry (for NGA: OR = 1.8, 95% CI 1.1-3.2), and using chemical rodenticides (for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). These results are consistent with previous studies of associations of maternal diabetes and pesticide exposure with conotruncal malformations. Further research is warranted to explore such associations and determine avenues for prevention.展开更多
Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(S...Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(SSCP) and sequencing. Results: The SSCP changes were found in exon 3、5 、 9 of TBX1, the sequence analysis identified a base T→C at cDNA sequence of 549(sign T549C), C793T, G1447T; and these changes were found in normal chromosome. Conclusion: There are polymorphism in TBX1 among Chinese.展开更多
文摘Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt;therefore our study aimed to describe associations with maternal and infant factors in order to identify possible risk factors. Cases (N = 255) were children up to two years of age whose heart malformations were confirmed by echocardiography;they were enrolled at the Cardiology Department of the Pediatric Hospital of Cairo University. Controls (N = 155) were free of congenital heart malformations, matched to the cases by age, and recruited from outpatients of the same hospital. Mothers of cases (97%) and controls (89%) provided consent to participate in an interview about their medical, familial, and occupational histories. Odds ratios (OR) and exact 95% confidence intervals (CI) assessed the magnitude and statistical significance of case-control differences. Cases were divided into two groups based on the presence of d-transposition of the great arteries (TGA): there were 139 with TGA and 116 with normally-related great arteries (NGA). Maternal diabetes prevalence was elevated in both the TGA (OR = 3.4) and NGA (OR = 5.5) subgroups. Several agricultural factors were associated with increased risk: raising animals (for TGA: OR = 2.4, 95% CI 1.2-4.6), raising poultry (for NGA: OR = 1.8, 95% CI 1.1-3.2), and using chemical rodenticides (for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). These results are consistent with previous studies of associations of maternal diabetes and pesticide exposure with conotruncal malformations. Further research is warranted to explore such associations and determine avenues for prevention.
文摘Objective: To detect the relationship between conotruncal heart malformation and TBX,gene. Methods: We analyzed 20 case of conotruncal heart malformation for TBX1 mutation by single strand con formation polymorphism(SSCP) and sequencing. Results: The SSCP changes were found in exon 3、5 、 9 of TBX1, the sequence analysis identified a base T→C at cDNA sequence of 549(sign T549C), C793T, G1447T; and these changes were found in normal chromosome. Conclusion: There are polymorphism in TBX1 among Chinese.
