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.
Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a “Jarcho–Levin syndrome” eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6th–8th ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.
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.
No abstract
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.