ABSTRACT
BACKGROUND: The prevalence of Coronary artery disease (CAD) in India has increased considerably over the past few years and could become the number one killer disease if interventions are not done. Factor V Leiden (FVL) mutation and FII G20210A polymorphism are two recently described genetic factors with a propensity towards venous thrombosis. This warrants the investigations for thrombophilia in myocardial infarction patients in India. METHODS: The study cohort consisted of 51 patients aged below 50 years presenting with acute coronary syndromes. In both patient group and normal individuals the major risk factors Protein C deficiency, Protein S deficiency, anticardiolipin antibodies, Fibrinogen and Lipoprotein [a] were studied. Factor V Leiden (FVL) G1691A mutation in both control and patient group was looked by using Polymerase chain reaction (PCR) followed by sequencing of the PCR products. RESULTS: Our results indicated significantly higher levels of anticardiolipin antibodies and fibrinogen in the patients and absence of FVL (G1691A) mutation in our study cohort. One of the patients (H5) showed insertion of an extra A nucleotide in exon 10 of the Factor V gene resulting in frame shift mutation in this patient. CONCLUSION: The results of present study showed absence of FVL mutation in our population. However, there is a need to confirm the above findings on patients from different populations from different parts of the country. The insertion of an extra A in exon 10 in the patient needs to be ascertained to confirm that it is one of its kinds or is prevalent in the population.
Subject(s)
Acute Coronary Syndrome/genetics , Factor V/genetics , Frameshift Mutation , Acute Coronary Syndrome/blood , Adult , Chi-Square Distribution , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Polymerase Chain Reaction , Regression Analysis , Risk Factors , Statistics, Nonparametric , Thrombophilia/geneticsABSTRACT
OBJECTIVE: The aim of this study is to prospectively assess the diagnostic accuracy of pulmonary embolism severity index, echocardiogram, computed tomography pulmonary angiogram (CTPA), and N-terminal pro b-type natriuretic peptide (NT-proBNP) for predicting adverse events in acute pulmonary embolism patients. METHODS: Thirty consecutive acute pulmonary embolism patients were included in this study. Combined adverse events consisted of in-hospital death or use of escalation of care including cardiopulmonary resuscitation, mechanical ventilation, vasopressor therapy, or secondary thrombolysis during hospital stay. RESULTS: The outcomes were met in 30% of patients. Qanadli index (a measure of clot burden on CTPA) and NT-proBNP were significantly higher in patients with adverse events than those without (p=0.005 and p=0.009, respectively). PESI had moderate positive correlation with right ventricular dysfunction (RVD) (r=0.449, p=0.013) but there was no significant difference in PESI between patients with and without adverse events (p=0.7). Receiver operating characteristic analysis indicated that Qanadli index was the best predictor of adverse events with area under the curve (AUC) of 0.807 (95% CI: 0.651-0.963) with a negative predictive value (NPV) of 100% and positive predictive value (PPV) of 47.4% at cut-off value of 19. Right ventricle to left ventricle ratio on CTPA was found to predict RVD with AUC of 0.94 (95% CI: 0.842-1.000), NPV (77.8%), and PPV (95.2%) at cut-off value at 1.15. CONCLUSION: Qanadli index is more accurate predictor of adverse events than pulmonary embolism severity index, NT-proBNP, and RVD on echocardiogram and CTPA.
Subject(s)
Computed Tomography Angiography/methods , Echocardiography/methods , Natriuretic Peptide, Brain/blood , Peptide Fragments/blood , Pulmonary Artery/diagnostic imaging , Pulmonary Embolism/diagnosis , Risk Assessment , Acute Disease , Adult , Aged , Female , Follow-Up Studies , Humans , Incidence , India/epidemiology , Male , Middle Aged , Prospective Studies , Pulmonary Embolism/blood , Pulmonary Embolism/epidemiology , ROC Curve , Severity of Illness Index , Survival Rate/trends , Young AdultABSTRACT
BACKGROUND: Metabolic syndrome is associated with the development of diabetes mellitus and cardiovascular disease. The impact of metabolic syndrome on the progression of atherosclerosis has been well documented. This study was designed to evaluate the impact of metabolic syndrome on global left ventricular function by using left ventricular myocardial performance index (LVMPI). METHODS: The diagnosis of metabolic syndrome was made as per the criteria of the International Diabetes Federation. Echocardiography was performed with a Philips IE33 machine using a 1-5 MHz transthoracic probe. LVMPI was calculated by adding isovolumic contraction time with isovolumic relaxation time and dividing it by ejection time. RESULTS: The mean LVMPI value in metabolic syndrome was 0.64 ± 0.09, while that in controls was 0.48 ± 0.06 (p < 0.001). Metabolic syndrome was seen to have more significant influence on LVMPI. CONCLUSIONS: Metabolic syndrome is a strong predictor of sub-clinical myocardial dysfunction in subjects free of clinically apparent heart disease.
ABSTRACT
A young lady was found to have hemihypertrophy, scoliosis, subcutaneous swellings, patchy dermal hypoplasia, plantar hyperplasia and macrodactyly. These suggested a diagnosis of Proteus syndrome. She was also having unilateral generalized hypertrichosis. The association of Proteus syndrome and unilateral generalized hypertrichosis has not been reported in the literature.
ABSTRACT
Three cases of pseudoxanthoma elasticum are described. One case has features of Gronblad Strandberg syndrome with lepromatous leprosy. The other two cases are reported in siblings. A short review of literature is given.