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R Saha - One of the best experts on this subject based on the ideXlab platform.

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table [prevelence of homo and heterozygous genotypes] Table Table [Association of biochemical parametres,gene polymor]

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table

P K Mohanty - One of the best experts on this subject based on the ideXlab platform.

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table [prevelence of homo and heterozygous genotypes] Table Table [Association of biochemical parametres,gene polymor]

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table

P S Kapoor - One of the best experts on this subject based on the ideXlab platform.

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table [prevelence of homo and heterozygous genotypes] Table Table [Association of biochemical parametres,gene polymor]

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table

A P Dubey - One of the best experts on this subject based on the ideXlab platform.

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table [prevelence of homo and heterozygous genotypes] Table Table [Association of biochemical parametres,gene polymor]

  • Polymorphism of MTHFR A1298C, a Marker in Northern Indian Mothers with DS Babies and its Association with Biochemical Risk Factors and CHD
    Pediatric Research, 2011
    Co-Authors: P K Mohanty, P S Kapoor, A P Dubey, R Saha
    Abstract:

    Background: Down syndrome occurs due to nondisjunction in maternal meiosis. Polymorphism of MTHFR due to low folate, high homocysteine are implicated as risk factors. Objective: To evaluate A1298C polymorphism as a risk factor in DS babies and association with biochemical parameters and CHD. Methods: 81 mothers(mean age 24.9±3.2yrs) with babies having free trisomy 21 and 99 mothers (mean age 26.9±4.6yrs) having no children with DS were evaluated. Fasting blood was collected for plasma homocysteine, folate (serum and RBC) and for PCR amplification. The MTHFR A1298C polymorphisms were done by allele specific polymerase reaction and enzyme digestion. Homocysteine quantified by liquid chromatography-TMS. Cardiovascular System Examination and Echo was done to delineate CHD. Results: The prevalence of A1298C polymorphism in cases and controls were 66.7% vs. 39.4% respectively. The heterozygous and homozygous genotype frequencies at 1298(AC and CC) among case and control were (38.3% vs. 22.2% and 28.4% vs. 17.25% respectively,OR=3.10, 95% CI 1.6-5.79, P=0.002). Low serum folate in 33.3% % of cases vs.8.0%% in controls(OR= 5.68, CI 95% 2.41-13.4, P= 0.0001). Low RBC folate was found in 28.3% of cases vs.11.1% in controls,(OR= 3.172, CI 95% 1.43-6.99 P=0.005). High homocysteine was found in 9.8% of cases vs. 2.0% in controls. The median intraquartile rangeof homocysteine in cases was10.2(Q1-Q3, 8.2-12.0) vs.7.6(Q1-Q3, 5.7-10.1) in controls. No relationship was observed among A1298C polymorphism and CHD.(Pvalue=0.601). Conclusion: MTHFR A1298C polymorphism associated with 3 times more risk of developing DS. Low serum, RBC folate and high homocysteine association are significant. Periconceptional folate supplementation may lead to a decline in DS births and CHD. Table Table

Aakarsh Bajaj - One of the best experts on this subject based on the ideXlab platform.

  • Atypical presentation of ectopia lentis in Marfan’s syndrome
    International Ophthalmology, 2014
    Co-Authors: Mridu Chaudhry, Samit Grover, Shikha Baisakhiya, Neha Sharma, Aakarsh Bajaj
    Abstract:

    The purpose of this article is to report an unusual bilateral inferior subluxation of the lens in a patient with Marfan’s syndrome. A 14-year-old boy presented with gradual painless diminution of vision in both eyes. His family history showed that his maternal uncle also had similar complaints. Systemic Examination of the patient revealed no neurological deficits. Cardiovascular System Examination was unremarkable. Hands and fingers were long and slender with hyperflexible joints. The ratio of arm spam to height was 1.06. He was myopic with a best-corrected visual acuity of 6/24 with −11 D spherical/− 2 D cylindrical in both eyes. Anterior chambers were deep with the presence of mild iridodonesis in both eyes. Pupillary reactions were sluggish. On pupillary dilatation, the lens was found to be subluxated inferiorly which is unlike the typical superotemporal subluxation of the lens in Marfan’s syndrome. The diagnosis of Marfan’s syndrome is usually made on clinical Examination only, as there is no specific investigation for this condition; however, it may have atypical presentations. Therefore, it is important to recognize and report such atypical cases.