ABSTRACT
BACKGROUND: Clubfoot is a common congenital foot deformity. Low folate status in mothers has been associated with CTEV. Folate metabolism might be affected by Methylene Tetrahydrofolate Reductase (MTHFR) gene polymorphism. The present study was aimed to investigate MTHFR C677T polymorphism and its association with CTEV. METHODS: This is a Case-mother-Dyad study with 30 pairs of cases and controls. Single Nucleotide Polymorphism (SNP) analysis of the MTHFR gene was done in this hospital-based study by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). RESULTS: In this study, we observed less relative risk of CTEV in presence of C allele as compared to T allele in children, with Relative Risk- 0.6281 and likelihood ratio of 0.5714. While analysing the correlation of genotype variation in cases (CC = 8(26.66%) and CT = 22(73.33%)) with there biological mother (CC = 13(43.33%) and CT = 17(56.66%)), no significant correlation (p = 0.3110) was found between cases and their biological mother genotype. CONCLUSION: Among the enrolled cases, there was a significant association of increased CTEV risk with 677T variant allele of MTHFR gene. Also, maternal MTHFR genotype was not found to influence CTEV risk of offspring.
ABSTRACT
BACKGROUND: Symptomatic non-union of medial humeral epicondylar fractures is a limited entity. Some studies recommend surgical excision of the fragment, but the results are controversial. The purpose of this study is to evaluate the outcome of open reduction and internal fixation of a medial epicondyle non-union fragment. MATERIALS AND METHODS: A retrospective study was conducted in all the patients, who were operated in our hospital between the year 2010 and 2015 for symptomatic medial humeral epicondyle non-union. Inclusion criteria were open reduction and internal fixation of symptomatic medial epicondyle non-union and minimum one year of follow-up from time of surgery. Exclusion criteria included other associated musculoskeletal disorders of the affected limb. Open reduction and internal fixation of the fragment was done in all patients and the ulnar nerve was decompressed and anteriorly transposed in cases where symptomatology was present. Outcome was assessed with radiograph, range/arc of motion, Visual analogue pain scoring and two functional outcome tools. RESULTS: Study sample consisted of 14 patients, with mean age at presentation of 14.9 years (range 6 to 50 years) with mean time since injury of 7.7 months (range 3 to 24 months). Patients presented with medial elbow pain and prominence, limited range of motion, valgus instability, and ulnar nerve compression. After open reduction and internal fixation, at a mean of three years after surgery (range 1.5 to 5 years), patients reported an improvement in visual analogue pain score from a mean of 7.29±1.3 to 0.21±0.4, and the difference was statistically significant (p=0.001). Mean postoperative Quick DASH (Disability of Arm, Shoulder, and Hand) score was 5.21±7.2. Mean Mayo Elbow Performance Score was 96.7±6.1. Improvement in arc of motion was statistically significant (p=0.001). Radiographic union was achieved in all patients except one who had fibrous union. Functional elbow range of motion was achieved in 13 out of 14 cases (92.8%) and ulnar nerve recovered in five patients and one patient required tendon transfer. CONCLUSION: Open reduction and internal fixation of symptomatic medial humeral epicondyle non-union gives excellent clinical and functional outcome in the majority of cases.
