MTHFR C677T and MTR A2756G Gene Polymorphism in Neural Tube Defect Patients and Its Association with Red Blood Cell Folate Level in Eastern Indian Population.

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.

VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome.

VACTERL association is a heterogeneous condition that includes at least three out of six core structural defects which occur together more commonly than would be expected by chance alone. We report a rare association of VACTERL with unilateral proximal focal femoral deficiency and trisomy 18 syndrome.

Neonatal Paratesticular Scrotal Mass: A Rare Case of Atypical Neurofibromatous Neoplasm with Uncertain Biologic Potential.

ABSTRACT: Atypical neurofibromatous neoplasm with uncertain biologic potential presenting as a paratesticular scrotal mass in a neonate with congenital giant melanocytic nevus is rare. Only one such case of neonatal scrotal neurofibroma has been reported earlier. We report an additional case and its management.

Complicated duodenal perforation in children: Role of T-tube.

Background: Diagnosis of duodenal perforation (DP) in children is often delayed. This worsens the clinical condition and complicates simple closure. Objectives: To explore the advantages of using T-tube in surgeries for DP in children. Patients and Methods: A retrospective study was conducted on all patients of DP managed in the Department of Paediatric surgery at a tertiary centre from January 2016 to December 2020. Clinical, operative and post-operative data were collected. Patients, with closure over a T-tube to ensure tension-free healing, were critically analysed. Results: A total of nine DP patients with ages ranging from 2 years to 9 years were managed. Five (55.6%) patients had blunt abdominal trauma; a 2-year-old male had perforation following accidental ingestion of lollypop-stick while a 3-year-old male had DP during endoscopic evaluation (iatrogenic) of bleeding duodenal ulcers; cause could not be found in other 2 (22.2%) patients. Of the five patients with blunt abdominal trauma, 4 (80%) had large perforation with oedematous bowel, necessitating repair over T-tube. Both patients with unknown causes had uneventful outcomes following primary repair with Graham's patch. Patients with lollypop-stick ingestion and iatrogenic perforation did well with repair over T-tube. The only trauma patient with primary repair leaked but subsequently had successful repair over a T-tube. One patient with complete transection of the third part of the duodenum and pancreatic injury who had repair over T-tube died due to secondary haemorrhage on the 10th post-operative day. Conclusion: Closure over a T-tube in DP, presenting late with oedematous bowel, ensures low pressure at the perforation site, forms a controlled fistula and promotes healing, thereby lessening post-operative complications.

Gossypiboma mimicking posterior urethral stricture.

INTRODUCTION: Foreign bodies in the urogenital tract are not uncommon. Hairpins, glass rods, umbilical tapes, ball point pen are described in lower urogenital tract. Retained gauze piece (gossypiboma) in posterior urethra may cause diagnostic dilemma. Symptoms and investigations may mimic stricture of posterior urethra. PRESENTATION OF CASE: Two cases of retained gauze pieces in the urethra are described here. The micturating cystourethrogram was suggestive of posterior urethral stricture. DISCUSSION: Two cases described here had retained gauze piece as a cause of filling defect and abnormal appearance in the micturating cystourethrogram. Gossypiboma may be a possibility where posterior urethral stricture are seen after previous surgery in paediatric age group. CONCLUSION: In the setting of previous urogenital surgery gossypiboma should be kept in the differential diagnosis where posterior urethral stricture are seen in the paediatric age group.

Sudden endotracheal tube block in a patient of Achalasia Cardia.

Endotracheal tube block due to various mechanical causes such as mucous, blood clot, denture, and ampoules have been reported. A patient of achalasia cardia with chronic passive aspiration pneumonitis developed mucoid mass in the respiratory passage which dislodged during the surgical procedure. The episode occurred almost an hour after induction of anesthesia and the dislodged mucoid mass blocked the lumen of endotracheal tube, leading to hypoxia and impending cardiac arrest. However, the patient was salvaged by replacing the tube.