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Introduction: Single-nucleotide polymorphism (SNP) is a single-nucleotide change in a deoxyribose nucleic acid (DNA) sequence that occurs in >1% of population. Methylene tetra hydro folate reductase (MTHFR) C677T (rs1801133) and methionine synthase enzyme (MTR) A2756G (rs1805087) are two such SNPs occurring in coding sequence of the respective genes, which are frequently seen with neural tube defects (NTDs). MTHFR and MTR genes are involved in folate metabolism. The folate level in the course of pregnancy is treated as vital in the etiopathogenesis of NTDs. This study aims to explore the association of SNPs of both genes and red blood cell (RBC) folate levels in the predisposition to NTDs. Aims and Objective: The purpose of this investigation was to determine the relationship of NTDs with polymorphisms in MTHFR and MTR genotype and to estimate and compare the RBC folate levels in NTD patients and controls. Materials and Methods: A total of 397 individuals were enrolled (163 patients and 234 controls) for this observational study. Genotyping to find out MTHFR C677T and MTR A2756G was performed by polymerase chain reaction–restriction fragment length polymorphism technique from DNA extracted from the subject's blood. RBC folate level was estimated by chemiluminescence immunoassay method with the same blood sample. Results: The total RBC folate levels were significantly less among cases compared to controls (P = 0.020). A significant difference for RBC folate was observed between case and control groups of various genotypes of MTHFR C677T, except heterozygote CT (P = 0.459). Among MTR A2756G, genotypes with only homozygous AA have significant difference (P = 0.003) for RBC folate levels. Among different types of NTDs, there were no significant differences for RBC folate levels. Among MTHFR C677T, T allele possessed 1.9 times risk compared to C allele for the occurrence of NTDs. In MTR A2756G polymorphism, the odds of developing NTDs were 1.6 times in heterozygous AG compared to homozygous AA. Similarly, the risk for NTDs was three times higher in subjects with both heterozygous AG and CT genotypes compared to wild-type homozygous AA and CC genotypes. Conclusion: The total RBC folate levels were significantly less among cases compared to controls, and the genotypes had no such effect in decrease in RBC folate levels. The presence of mutant allele in homozygous or heterozygous condition for both SNPs had increased risk associated with NTDs. [ABSTRACT FROM AUTHOR]

Background: Large wounds following surgery for neural tube defects are difficult to close; physical wound characteristics such as position and dimension would serve as a guide for their surgical closure. Aim: To study how wound dimension determines the choice between primary and rhomboid flap closure of skin defects following surgery for neural tube defects. Materials And Methods: A retrospective study was carried out on cases of neural tube defects operated in the department of paediatric surgery at a tertiary center for 3 years from January 2015 to December 2017. Data regarding clinical features, location, wound dimensions following surgery, any bony deformity, method of closure used, distance of wound from anus, and postoperative complications were collected and analyzed. Results: A total of 114 cases were operated during this period; 86/114 had primary closure, whereas 28/114 needed rhomboid flap for tension-free cover. Primarily closed wounds had a biphasic distribution of (long axis)/(short axis) ratio (with values either >1.65 or <0.63), whereas those covered by rhomboid flaps had a mean ratio of 1.25 (range, 0.71-1.45). All six cases with bony deformity needed rhomboid flaps. Although all lipomeningomyelocele defects could be primarily closed, all rachischisis needed flap cover. Infected lesions had a mean wound distance of 5.3 cm from posterior anal margin. Conclusion: Defect's position, its size and shape, and any bony deformity determine the choice of closure of postoperative wound. The versatile, safe, and universal rhomboid flap is an aesthetic solution to the large skin defects in patients of neural tube defects. [ABSTRACT FROM AUTHOR]