Background Autoinflammatory disorders are the group of inherited inflammatory disorders caused due to the genetic defect in the genes that regulates innate immune systems. These have been clinically characterized based on the duration and occurrence of unprovoked fever, skin rash, and patient’s ancestry. There are several autoinflammatory disorders that are found to be prevalent in a specific population and whose disease genetic epidemiology within the population has been well understood. However, India has a limited number of genetic studies reported for autoinflammatory disorders till date. The whole genome sequencing and analysis of 1029 Indian individuals performed under the IndiGen project persuaded us to perform the genetic epidemiology of the autoinflammatory disorders in India. Results We have systematically annotated the genetic variants of 56 genes implicated in autoinflammatory disorder. These genetic variants were reclassified into five categories (i.e., pathogenic, likely pathogenic, benign, likely benign, and variant of uncertain significance (VUS)) according to the American College of Medical Genetics and Association of Molecular pathology (ACMG-AMP) guidelines. Our analysis revealed 20 pathogenic and likely pathogenic variants with significant differences in the allele frequency compared with the global population. We also found six causal founder variants in the IndiGen dataset belonging to different ancestry. We have performed haplotype prediction analysis for founder mutations haplotype that reveals the admixture of the South Asian population with other populations. The cumulative carrier frequency of the autoinflammatory disorder in India was found to be 3.5% which is much higher than reported. Conclusion With such frequency in the Indian population, there is a great need for awareness among clinicians as well as the general public regarding the autoinflammatory disorder. To the best of our knowledge, this is the first and most comprehensive population scale genetic epidemiological study being reported from India.
Background: The main objective of prescription pattern analysis is to assess the rationality of drug use. It has been found that cardiovascular disease is the most frequent cause of morbidity and mortality throughout the world. This study is to estimate the prescribing pattern and adverse drug reactions in patients with cardiovascular diseases.Methods: This prospective observational study was conducted for a period of 2 months in cardiology outpatient department.100 patients who fulfilled the study criteria were observed. The central drug standard control organisation (CDSCO) reporting forms were used for the collection of adverse drug reactions. Causality assessment was done by using the World Health Organization Collaborating Centre for International Drug Monitoring, the Uppsala Monitoring Centre (WHO-UMC) scoring system and severity assessment by modified Hartwig and Siegel scale.Results: The study group consists of 79% male and 21% females. Average number of drugs per prescription was 4.65. Most commonly prescribed drugs were antiplatelets (32%) followed by statins (18.27%) and the least common were calcium channel blockers (1.72%) and cardiac glycosides (0.86%). A total of 174 adverse drug reactions were reported out of which 24.7% were myalgia due to statins, 15.5% were cough due to angiotensin converting enzyme inhibitors and 14.3% were gastritis due to antiplatelets.Conclusions: Antiplatelets, statins and angiotensin converting enzyme inhibitors dominated the prescribing pattern. Myalgia, cough, gastritis, insomnia by atorvastatin, enalapril, aspirin, beta blockers respectively were found to be the most commonly reported ADRs among the cardiovascular drugs.
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