Our results show that the MDR1 3435T and GABRG2 588T alleles play a role in seizure occurrence. Moreover, the MDR1 3435T allele also affects PHT absorption. We suggest MDR1 C3435T and GABRG2 C588T genotyping would be of value in order to lower the risk of concentration-dependent drug toxicity and for better patient management.

Background:Degenerated disc disease (DDD) is a common disorder responsible for increased morbidity in a productive age group. Its etiology is multifactorial and genetic factors have been predominantly implicated. Disc prolapse results due to tear in the annulus, which is a fibrous structure composed largely of type I collagen. Functional polymorphism at the Sp1 site of the collagen I alpha 1 (COL1A1) gene has shown a positive association with DDD in Dutch and Greek populations. The purpose of this study was to assess COL1A1 Sp1 gene polymorphism in the Indian population.Materials and Methods:Fifty clinically and radiologically proven patients with disc prolapse requiring surgery were included as cases and 50 healthy, age-matched volunteers served as controls. After isolating DNA from their blood sample, genotyping for COL1A1 polymorphism (rs1800012) was performed and identified as GG, GT, and TT.Results:The mean age and body mass index in cases and controls were similar. 76% of the patients were males. The most common site of disc degeneration was L4–L5 (36%), followed by L5–S1 (34%). Homozygous–GG, heterozygous GT, and homozygous TT genotypes were seen in 38 (76%), 10 (20%) and 2 (4%) cases respectively, controls had similar percentage of genotypes as well. The alleles in cases and the control group showed no significant difference (P = 0.6744) and followed the Hardy–Weinberg Equilibrium in the study population.Conclusion:The COL1A1 (rs1800012) is in Hardy–Weinberg equilibrium in the present subset of Indian population. But taken as a single factor, it was not found to be associated with DDD in this preliminary study. Disc degeneration is multifactorial and also anticipated to be a result of multiple genes involvement and gene-gene interaction.

Introduction: Road traffic accidents have been responsible for the high incidence of head injuries. In a study from India, it was reported that there were 150 Traumatic Brain Injury (TBI) cases per 1,00,000 population, out of which 20 succumbed to death. In the repair process of TBI many chemicals play a role, of which, Tumour Necrosis Factor alpha (TNF-a) is important as TNF-a was shown to possess both neurotoxic and neuroprotective activity. Aim: To evaluate the serum levels of TNF-a and its functional polymorphism in TBI patients and assessing the outcome. Materials and Methods: The prospective cohort observational study was conducted in the Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, Telangana, India, from June 2008 to May 2012. It included 126 patients of both sexes with severe and moderate head injuries based on Glasgow Coma Scale (GCS) scores. A 3 mL of plain/Ethylenediaminetetraacetic acid (EDTA) blood sample was drawn from individuals immediately after admission, which was used for serum TNF-a assessment and DNA isolation for TNF-a genotype analysis. The TNF-a levels were measured by Enzyme Linked Immunosorbent Assay (ELISA) using KRISHGEN Biosystems (Catalog No. KB 100-HTNF a) kit. Outcome assessment was done based on Glasgow Outcome Scale (GOS). Statistical analysis was accomplished by Open Epi version 3.01 software. Odd’s Ratio (OR) were used to calculate risk of good/bad outcome with 95% confidence interval and results with a p<0.05 were considered statistically significant. Results: A total of 126 subjects of Indian origin were enrolled in this study. The mean age of the subjects was 36.7±12.97 years. Out of the 126 patients, 46.8% (59) had multiple lesions. The patients with <40 pg/mL (as per the kit specifications) TNF-a levels were 67.50% (85/126), while those with >40 pg/L were 32.50% (41/126). The most common genotype found in the TBI patients was TT with a frequency of 60.3% (76/126), followed by CT with a frequency of 16.6% (21/126) and CC with a frequency of 23% (29/126). When genotype and TNF-a serum levels were studied together, it was seen that low TNF-a level (11-40 pg/mL) was associated with C allele and CC genotype, while those with TT genotype had high TNF-a level (>40 pg/mL) when compared with other genotypes (CC, CT) and this was found to be statistically significant with an OR=3.4064, (95% CI= 1.8426 to 6.2975), p=0.0001. Higher percentage of death and disability was seen in patients with TT genotype while CC genotype showed good recovery at six months with OR=3.6441 (95% CI=1.911 to 6.946), p=0.0001. This suggests that T allele of TNF-a C850T polymorphism has a 3.6 fold higher risk of bad outcome in patients with TBI. Conclusion: The C allele and CC genotype of rs1799724 polymorphism was associated with positive outcome at three to six months. Thus, evaluating TNF-a levels and evaluating the genotype of rs1799724 polymorphism at admission, can be taken as prognostic marker. It can also be used as a target for therapeutic intervention.

Background Cognitive impairment is commonly seen in traumatic brain injury survivors. Posttraumatic cognitive sequelae may be more devastating than focal motor and focal sensory deficits, and are usually left unattended. Aim and Objective Aim of this study was to assess cognitive impairment in patients who had sustained moderate degree diffuse axonal injuries and having good outcome (Glasgow Outcome Score of 5). Methods and Materials Prospective observational study was done from 2011 to 2015 on the patients who had sustained moderated degree diffuse brain injuries. Eighty-four cases fulfilling the inclusion criteria were studied. Patients were assessed with Mini-Mental Status Examination at discharge, end of 1 month, and at 3 months. Result Seventy-six were males and 8 were females. Age ranged from 16 to 49 years. Note that 4.76% (4) patients had hypotension at presentation, 32.14% (27) patients had associated injuries, and 19.04% (16) patients had hyponatremia at presentation. Diabetes mellitus was seen in 34.52% (29) patients, while hypertension was seen in 14.28% (12). At 3 months’ follow-up, 19.06% (16) patients had cognitive impairment. The present study revealed that hypotension and presence of associated injuries at presentation raises the odds of having cognitive impairment by 8 and 5 times, respectively. Conclusion Routine assessment of cognitive impairment in head injury survivors is essential as it may help in identifying cognitive deficits. Early intervention of neurorehabilitation to such patients results in better neurocognitive outcome. Hypotension and associated injuries are associated with poor cognitive outcome.

Introduction: Diffuse Brain Injury (DBI) has been shown to be the major form of the primary brain traumatic injury. Apolipoprotein E (APOE) is considered to be associated in the prognosis of DBI. Aim: To analyse change in cognitive outcome of moderate degree DBI patients and its association with APOE gene polymorphism. Materials and Methods: This prospective cohort study was conducted at the Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, India, from March 2018 to May 2019, in which 23 patients who had moderate DBI were included. Patients were genotyped for APOE polymorphism and intellectual function was assessed when the patient was being discharged using Mini Mental State Examination (MMSE) score and was repeated after three months. Wilcoxon Signed Rank Test was used to determine the change in MMSE score taken at the time of discharge and after three months in follow-up. Results: Of the total 23 patients, 19 (82.60) were males and 4 (17.40%) were females where the average age of subjects included was 41.59±17.64 years. E2/E3 APOE genotype was present in 16 (69.56%) subjects. The improvement of MMSE score at the end of three months following discharge showed that best recovery was in subjects with E2/E3, genotype with mean of 4.9±2.1, followed by E2/E2 i.e., 3.5±2.6. In order to evaluate the changes in MMSE score at the time of discharge and after three months due to the presence of APOE genotype E2/E3 a Wilcoxon Signed Rank Test was performed which revealed statistically significant positive change in MMSE score after three months, z=-3.512, p=0.00044, with a large effect size (r=0.620). Conclusion: This preliminary study indicated that APOE E2/ E3 individuals showed a better recovery after traumatic brain injuries based on MMSE scores. However, extended studies are needed to establish this which may also give more weightage for genotyping APOE as a prognostic marker.