This study is of importance as it is the first report from India of a successful attempt to analyze the rate of vertical/perinatal transmission of HCV from infected mothers to their children by a prospective longitudinal follow-up study, and to characterize the pattern of genotype(s) of HCV present in the infected mother/baby pairs, so as to confirm the source of HCV acquired by the newborn babies.
AIMS AND OBJECTIVE:Evaluation of C677T polymorphisms of the methylenetetra hydrofolate reductase (MTHFR) gene and its association with level of serum homocysteine, folate, and vitamin B12 as possible maternal risk factors for Down syndrome.DESIGN:This was a case–control study.MATERIAL AND METHODSFifty-two mothers (mean age 27.6 years) with babies having free trisomy 21 of North Indian ethnicity and 52 control nonlactating mothers (mean age 24.9 years) of same ethnicity attending services of genetic lab for bloodletting for other causes were enrolled after informed written consent. Fasting blood was collected and was used for determination of plasma homocysteine, vitamin B12, and folate (serum and RBC), and for PCR amplification of the MTHFR gene.RESULTS:The prevalence of MTHFR C677T polymorphism in north Indian mothers of babies with trisomy 21 Down syndrome was 15.38% compared to 5.88 % in controls. The difference between two groups was not statistically significant (P = 0.124). Low serum folate was demonstrated in 34.62% of cases vs. 11.54% in controls, which was significant (P = 0.005). Low RBC folate was found in 30.7% of cases versus 11.53% in controls, which was not significant (P = 0.059), when analyzed independently. But on multiple regression analysis the difference was statistically significant. Low serum vitamin B12 was found in 42.31% of cases versus 34.62% in controls, which was not significant (P = 0.118). The mean serum homocysteine in cases was 10.35 ± 0.68 while controls were 9.02 ± 0.535.CONCLUSION:Serum levels of folate were low in cases. The RBC folate levels were comparable in both groups. However the combined serum folate and RBC folate were low in cases compared to control groups. Homocysteine levels in our study were higher in Down syndrome mothers compared to controls; however high-serum level of Homocysteine had no association with MTHFR polymorphism. No association of serum vitamin B12 with MTHFR polymorphism in occurrence of Down syndrome births was found. Peri- or preconceptional folate supplementation may therefore lead to a decline in DS births, if supported by larger studies.
Background : Outcome data of children with heart disease who acquired COVID-19 infection are limited. Aims : We sought to analyze outcome data and identify risk factors associated with mortality in children with heart disease and grown-ups with congenital heart disease (GUCH) who had a laboratory-confirmed COVID-19 infection. Settings and Design : This is a retrospective, multicentric, observational study. Materials and Methods : The study included children with heart disease and GUCH population, who presented with either symptomatic or asymptomatic COVID-19 infection to any of the participating centers. COVID-19-negative patients admitted to these centers constituted the control group. Results : From 24 pediatric cardiac centers across India, we included 94 patients with a median age of 12.5 (interquartile range 3–96) months and 49 (52.1%) patients were males. Majority (83 patients, 88.3%) were children. One-third of the patients (n = 31, 33.0%) had acyanotic congenital heart disease, and 41.5% (n = 39) were cyanotic, with > 80% of the patients being unoperated. Only 30 (31.9%) patients were symptomatic for COVID-19 infection, while the rest were incidentally detected positive on screening. A total of 13 patients died (case fatality rate: 13.8%). The in-hospital mortality rate among hospitalized patients was significantly higher among COVID-19-positive cases (13 of 48; 27.1%) as compared to COVID-negative admissions (9.2%) during the study period (P < 0.001). On multivariate analysis, the independent predictors of mortality among COVID-19-positive cases were severity of illness at admission (odds ratio [OR]: 535.7, 95% confidence interval [CI]: 6.9–41,605, P = 0.005) and lower socioeconomic class (OR: 29.5, 95% CI: 1.1–814.7, P = 0.046). Conclusions : Children with heart disease are at a higher risk of death when they acquire COVID-19 infection. Systematic preventive measures and management strategies are needed for improving the outcomes.
Objective The Ross procedure is an established option for aortic valve disease in children. Due to limited availability of pulmonary homograft, we devised a novel technique for right ventricular outflow tract (RVOT) reconstruction by preparing indigenous Dacron valved conduit. Methods Forty consecutive cases of modified Ross procedure done at our center (2013-2018) were analyzed. Thirty-seven patients (95%) were followed up with median duration of 2.5 (0.08-5.5) years. Median age was 12 (5-39) years. Nineteen (47.5%) patients had rheumatic aortic valve disease, while 19 (47.5%) had congenital aortic valve disease. Aortic root replacement with pulmonary autograft was performed in all patients. Dacron conduit for RVOT reconstruction was used with on table sewn bileaflet valve using Dacron patch (n = 22), expanded polytetrafluoroethylene (ePTFE) membrane (n = 10), bioprosthetic valve (n = 4), and pericardium (n = 4). Additional surgical procedures included mitral valve repair (n = 10), septal myectomy (n = 2), ascending aorta replacement (n = 1), ruptured sinus of valsalva (RSOV) repair (n = 1), and ventricular septal defect (VSD) closure (n = 1). Results There was one in-hospital mortality while one late death occurred at 3.5 years postoperatively. The neo-aortic valve regurgitation on echocardiographic evaluation at last follow-up was trivial (n = 28), mild (n = 7), and moderate (n = 2). Mild RVOT obstruction was present in 8 patients while 18 patients had mild pulmonary regurgitation. No patient required reintervention during follow-up. Conclusion Our early results of modified Ross procedure are encouraging, however, long-term follow-up is required.
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