Clinical profile, treatment patterns and one-year outcome of heart failure patients admitted in tertiary care hospital of North India.

Introduction: Because of wide heterogeneity in the epidemiology of heart failure among different populations, it is imperative to establish population-specific databases. Aims and Objectives: To describe the clinical profile, treatment patterns, and outcomes of heart failure patients admitted to our tertiary care hospital. Material and Methods: The study was a prospective observational study conducted over two years at our tertiary care hospital. It included patients admitted with acute and acute-on-chronic heart failure. Results: We recruited 264 patients. Mean age of the study population was 57.8 ± 15.14 years. Males were 157 (59.5%). Dilated cardiomyopathy was the most common cause followed by ischemic heart disease. Most common risk factors were hypertension, tobacco use, anemia, and diabetes. Heart failure with reduced ejection fraction was present in 154 (62%) patients. Acute de novo heart failure was present in 91 (34.5%) patients. The most common precipitant for heart failure exacerbation was infection, followed by ischemic causes and non-adherence to drugs. The mean duration of hospital stay was 7.5 ± 3.1 days. The in-hospital mortality was 8.7%, and cumulative six-month and one-year mortality was 23% and 28%, respectively. In multivariate analysis, renal failure, readmission, and not being on guideline-directed medical treatment were significant predictors of mortality. Conclusion: Our patients were younger, predominantly males, with dilated and ischemic cardiomyopathy as commonest etiology. Hypertension and tobacco smoking were most common risk factors, with infections as most common precipitants. Only one-third of patients were on guideline-directed medical therapy. The one-year mortality was 28% and was higher in those without guideline-directed medical therapy.

Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing.

ABSTRACT: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent diarrhea, early cataracts, xanthomas, cognitive decline, ataxia, neuropathy, and other manifestations of CTX. Magnetic resonance imaging (MRI) brain in all three patients revealed abnormalities consistent with CTX. Diagnosis was confirmed by next-generation sequencing. Chenodeoxycholic acid (CDCA) is recommended as the drug of choice, as it can halt the disease progression and reverse some of the symptoms. In addition to late diagnosis, nonavailability of CDCA in our part of world adds to the problem of management of such patients; therefore, they are often started on alternative therapies, which are less effective.

Miller Fisher syndrome associated with COVID 19.

Miller Fisher syndrome (MFS), is an acute peripheral neuropathy, a variant of Guillain-Barre syndrome, that develops following exposure to different viral, bacterial, and fungal pathogens. Patients usually present with a triad of ophthalmoplegia, ataxia, and areflexia. During Covid pandemic MFS has been described associated with novel coronavirus disease 2019 (COVID-19). Here we describe the clinical course, Cerebrospinal fluid (CSF) findings, nerve conduction studies, treatment and outcome of the patient having MFS concurrent with COVID 19.

Association of Forkhead Box P3 Gene Polymorphisms With Allograft Rejection Episodes in Kidney Transplant Patients: a Study From Kashmir, North India.

INTRODUCTION: The forkhead box P3 (FOXP3) gene is important for regulation and development of T cells, which are mediators of kidney allograft rejection. The FOXP3 gene polymorphism may be associated with the rejection of kidney transplants. This study was designed to determine the association of FOXP3 polymorphism with kidney transplant rejection. MATERIALS AND METHODS: A total of 118 kidney transplant patients were included in this study and were grouped into rejection (n = 31) and nonrejection (n = 87) groups. The FOXP3 rs3761548 gene was genotyped by polymerase chain reaction-restriction fragment length polymorphism using the taqman probe technique. Gene polymorphism at rs3761548 of the FOXP3 gene was analyzed for association with rejection episodes and graft outcome of kidney transplants. RESULTS: The CC genotype of rs3761548 was not present neither of the study nor the control group. The AA genotype was association with a higher risk of rejection compared to the C/A genotype (odds ratio, 2.329; 95% confidence interval, 1.041 to 5.210). The C/A genotype was also associated with a better response to treatment for rejection (odds ratio, 6.667; 95% confidence interval, 1.319 to 33.707) and better posttransplant graft function (odd ratio, 5.833; 95% confidence interval, 1.727 to 19.704). CONCLUSIONS: Our findings suggested an association between rejection episodes, posttransplant graft function, and the FOXP3 rs 3761648 polymorphism. Determination of FOXP3 rs 3761648 C/A genotype might be helpful for the identification of recipients with a lower risk of rejection and better graft survival.