Background. Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 andSOX-1OT, are associated with its etiology in different populations. High-risk markers on these genesreported in other populations were not studied in our population. Hence, the study aimed to determinethe association of MAPK4 and SOX-1OT polymorphisms in CLP in multiplex families. Methods. Based on inclusion and exclusion criteria, we selected 20 multiplex CLP families for thiscase‒control study, in which the affected individuals and healthy controls selected from these familieswere compared. Fifty subjects affected with cleft and 38 unaffected subjects were included in the study.The polymorphisms studied for the association consisted of rs726455 and rs2969972 in the genes SOX-1OT and MAPK4, respectively. DNA was isolated and sent for genotyping using the MassArray method.Plink, a whole-genome association analysis toolset, was used for statistical analysis. Results. Both polymorphisms followed Hardy–Weinberg equilibrium. The rs726455 of SOX-1OTyielded a P-value of 0.983 and an allelic odds ratio (OR) of 0.983. For rs2969972 of MAPK4, the P-valuewas 0.04 (significant), and the allelic OR was 0.51. Minor allele frequency (MAF) in the unaffectedsubjects was more than the MAF in the affected subjects for rs2969972. Conclusion. The results suggested that polymorphism rs726455 on SOX-1OT was not associated withfamilial cases of CLP. Since MAF in the unaffected subjects was more than the MAF-affected subjects,rs2969972 on MAPK4 is protective in the multiplex families.
Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.
Introduction: Arthroscopy for knee surgery is the most often used minimally invasive orthopaedic surgical technique. Postoperative discomfort can be caused by irritation to the nerve endings in the synovial tissue, the fat pad in the front of the knee, and the joint capsule that can take place during the excision and resection. Aim: To compare the efficacy of Intra-Articular (IA) dexmedetomidine versus buprenorphine for postoperative analgesia following arthroscopic knee surgeries. Materials and Methods: A prospective interventional study was carried out for a period of one and a half years from January 2021 to June 2022 at Department of Anaesthesiology B.L.D.E. (Deemed to be University) Shri B.M. Patil Medical College, Hospital and Research Centre, Vijayapura, Karnataka, India. Around 80 patients of both genders of American Society of Anaesthesiologists (ASA) grade I and II who were scheduled for arthroscopic knee surgeries were randomly divided into two equal groups of 40 each. After the operation was finished, the patients in each group received the respective medications intra-articularly through an arthroscopy port. Group D received Inj. Dexmedetomidine 100 mcg+ Inj. Bupivacaine 0.25%, 20 mL. Injections of buprenorphine 100 mcg and bupivacaine at a concentration of 0.25% , 20 mL were given to the participants in group B. Immediately following surgery, the patient’s temperature, pulse, Mean Arterial Pressure (MAP), and Visual Analogue Scale (VAS) score for pain were all monitored and recorded at the 1st, 2nd, 4th, 8th, 12th and 24th hour. Time to first rescue analgesia, the number of patients requiring rescue analgesia within the next 24 h, the visual analog scale at rest, and on mobilisation at 1st, 2nd, 4th, 8th, 12th, and 24 hour were measured. Side-effects like sedation, pruritis, nausea, vomiting, respiratory depression, and hypotension were also monitored. Descriptive statistics were reported as mean (SD) for continuous variables, and frequencies (percentage) for categorical variables. Data were statistically evaluated with IBM Statistical Package for the Social Sciences (SPSS) Statistics for Windows, Version 26.0, IBM Corp., Chicago, IL. Results: The mean age of the study participants was 38.38±11.30 years among the buprenorphine group and 36.40±12.07 years among the Dexmedetomidine group. Among the Buprenorphine group 52.5% were females and 47.5% were males. There was a statistically significant difference in VAS score at rest and mobilisation between the groups. The mean time for first rescue analgesia was longer for the buprenorphine group 1016.22±137.54 minutes and for the dexmedetomidine group, it was 523.67±117.47 minutes. Rescue analgesia was given to 9 (22.5%) in the buprenorphine and 18 (45%) in the dexmedetomidine group. Conclusion: In comparison to IA dexmedetomidine, buprenorphine produces analgesia for a longer period of time and reduces the amount of postoperative rescue analgesic that is required.
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