Abstract
Background: To explore the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C, Methionine Synthase Reductase (MTRR) gene A66G and the recurrence of low birth weight(LBW) in offspring. Methods: Allele-specific polymerase chain reaction (ASPCR) assay combined with TaqMan probe technique were used to detect the mother’s MTHFR and MTRR genotypes respectively. And unconditional logistic regression analysis was used to evaluate the associations of MTHFR and MTRR polymorphisms, and gene-gene interaction with low birth weight.Results: MTHFR 677TT and 1298CC were independently associated with a higher risk of LBW (OR:2.22, 95%CI:1.14-4.34 and OR:2.82, 95% CI:1.15-6.87,respectively). The MTRR A66G polymorphism was associated with an significant association of LBW when combined with the MTHFR 677TT genotype, although there was no association found between LBW and MTRR A66G alone.Moreover, two or more risk genotypes carriers showed higher odds of LBW than null risk genotype one.Conclusion: Maternal MTHFR gene 677TT, 1298CC can increase the risk of LBW in the offspring.The MTRR A66G polymorphism was not associated with LBW alone. But it may exacerbate the effect of the MTHFR C677T variant.
Primary segmental intestinal volvulus is a rare condition that may affect neonates. This condition occurs when a loop of bowel torses around the axis of its mesentery without any other abnormality or malrotation. In the earlier stages, the diagnosis can be challenging due to the lack of specific clinical and radiographic signs. Prompt surgical management is critical as a delay in diagnosis may result in bowel loss or death. We present a series of three cases of extremely low birth weight infants with primary segmental volvulus. A sentinel bowel loop was critical in guiding each patient’s surgical management as there were no other clinical markers concerning a pending intra-abdominal catastrophe. This case series suggests that a sentinel bowel loop may be a radiographic marker for primary segmental intestinal volvulus in extremely low birth weight infants.
Significant Interaction of MTHFR C677T, A1298C and MTRR A66G Polymorphisms on the Risk of Low Birth Weight Infants