Coronary heart disease (CHD), synonymously known as coronary artery disease (CAD) is the most predominant among the cardiovascular diseases and ranked number one in prevalence among the developing countries. CHD is a multifactorial disease involving both genetic and environmental factors and is primarily caused due to a process of progressive damage of coronary arteries called atherosclerosis. We present here a comprehensive review of molecular genetic studies conducted so far on CAD. The information was gathered through the internet using appropriate search terms for CHD/CAD. We also compiled the relevant information from the following websites: http://www.bioguo.org/CADgene/and http://www.genome.gov. Besides several Mendelian forms of the CHD, ~300 more genes have been identified in different studies through candidate gene approach. Additionally 32 more loci have been identified through genome wide association studies that include 9p21.3 as the most replicated genetic locus across the globe. Nevertheless, overall, these studies have been characterized by a relative lack of consistency in the association pattern across the populations. A fair degree of ethnic variation in the nature of association of different genetic variants with the disease has also been apparent. Pleiotropic effects of genes, existence of subclinical phenotypes and genetic heterogeneity appear to have been the limiting factors for developing a genetic risk profile test for the disease. Given the high prevalence of this disease in India, the presence of environmental triggers and genetic variation, it would be prudent to conduct multi-ethnic large-scale studies in India, representing the subcontinent as a whole-there have been a very limited number of molecular genetic studies on Indian populations.

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Context: No single factor can predict the occurrence of post total thyroidectomy (TT) hypocalcemia. Aims: This study was conducted to look at various factors usually implicated in post TT clinically significant hypocalcemia (CSH) and to develop a scoring system using a combination of these factors to predict CSH. Settings and Design: Prospective study, tertiary care center. Materials and Methods: 145 patients, who underwent total thyroidectomy for benign goiters and early carcinoma thyroid ( < T2/N0/M0), were included. Age of the patient, presence, or absence of hyperthyroidism, pre-operative levels of serum calcium and 25 OH vitamin D, post-operative iPTH at 8 hours and calcium at 12 hours, intra-operative parathyroid preservation status, and nodule size were studied. CSH prediction score (0 to 8) was designed based on these 8 factors. Statistical Analysis: SPSS 13 software was used. For comparison between groups' independent samples T-test and Chi-square test was used. Statistical significance was set at P<0.05. A logistic regression analysis model was built to assess the significant predictors. Results: There were 22 males and 123 females. 64.82% had euthyroid multinodular goiters, 24.82% had toxic MNG, and 10.34% had an early carcinoma of thyroid. 30.34% developed CSH. CSH was observed in patients with low pre-operative calcium (P=0.008), low 25 OH vitamin D (P=0.001), low post-operative iPTH at 8 hours (P=0.001), low serum calcium at 12 hours after surgery (P=0.001) and lesser number of parathyroid identification at surgery (P=0.001). Patient age (P=0.2) and nodule size (P - 0.17) was not significant. Hypocalcemia risk score of > 3 had 91% sensitivity, 84% specificity with a PPV of 71% and NPV of 95%, whereas score of ≥ 4 had 100% specificity and PPV in predicting CSH. Conclusions: CSH after TT is multi-factorial, and a combination of factors (Hypocalcemia prediction score > 3) can be used to predict it so as to discharge patients within 24 hours after surgery.

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Background: Limited information is available about the risk factors associated with death among patients of influenza A (H1N1) in India. Aims: To describe the epidemiology of laboratory-confirmed influenza A (H1N1) patients and identify risk factors associated with death. Settings and Design: We reviewed the surveillance data of laboratory-confirmed patients in Tamil Nadu, India, for the year 2010. We conducted a case-control study by comparing 70 laboratory-confirmed A (H1N1) patients who died (cases) with 210 A (H1N1) patients who recovered (controls) to identify the risk factors for deaths. Materials and Methods: We interviewed the controls and immediate care-takers of the influenza patients who died to collect information about socio-demographic details and co-morbid conditions. We used an abstraction form to collect the information about the clinical details from the case records of the hospitals where the cases and controls received treatment. Statistical Analysis: We analysed the surveillance data by time, place and person. We conducted univariate and multivariate logistic regression analysis for identifying factors associated death. Results: During 2010, 1302 laboratory-confirmed cases were reported to the Tamil Nadu surveillance unit. Of these, 72 patients died (case fatality=5.5%). About 2/3 of the cases and 40% of the deaths were from three districts. On multivariate analysis, past history of diabetes, treatment in private hospitals, treatment with corticosteroids during illness, visit to >1 healthcare facility before laboratory confirmation and delay of >48 h in starting antivirals were found to be independently associated with the deaths. Conclusions: Influenza patients with previous history of diabetes, who had treatment with corticosteroids during illness, and started with antivirals after 48 h of onset of symptoms, were at higher risk of adverse outcome. In order to reduce the risk of death during future waves of influenza in Tamil Nadu, the physicians need to be sensitised regarding (1) higher risk of adverse outcomes among A (H1N1) patients with diabetes; (2) adherence to the national protocol for categorisation of cases; (3) prompt initiation of antivirals for severe cases; and (4) avoidance of systemic corticosteroids during management.

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Context and Aims: Internet use is rapidly expanding and increasingly plays a substantial role in patient education. We sought to evaluate and compare the quality of information available to patients online on three closely linked specialties: Interventional radiology (IR), cardiology, and vascular surgery. Materials and Methods: We searched the leading three search engines for the terms: "Interventional Radiology", "cardiology," and "vascular surgery," collating the top 50 hits from each search. After excluding duplicates and irrelevant sites, 43, 25, and 36 sites remained, respectively. Sites were analyzed using the LIDA instrument (an online tool for assessing health-related websites) and Fleisch Reading Ease Scores (FRES) were compared across the different search terms and correlated with the country of origin and certification by the Health on the Net (HON) Foundation. Results: There was no significant difference ( P>0.05) in the total LIDA, accessibility, usability or reliability scores between the three specialties. HONCode certification was associated with higher LIDA (83.1±1.6 vs. 71.53±0.8 ( P<0.0001)), reliability (75.7±3.6 vs. 49.0±1.6 ( P<0.0001)) and FRES (37.4±4.0 vs. 29.7±1.4 ( P=0.0441)). Conclusion: Websites are generally well designed and easy to use; the majority however, lacks currency and reliability. Despite similarity in quality of online information, there is a disparity in knowledge of IR; this may be due to low web-traffic figures of IR sites. Wikipedia's user-generated content, ranks highly in major search engines, as such; this could serve as means of disseminating reliable health information to patients.

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A 26-year-old previously healthy female presented with a 6-month history of anemia. The laboratory findings revealed hemolytic anemia and direct antiglobulin test was positive. With a diagnosis of autoimmune hemolytic anemia (AIHA), prednisolone was started but was ineffective after 1 month of therapy. A bone marrow trephine biopsy revealed pure red cell aplasia (PRCA) showing severe erythroid hypoplasia. The case was considered PRCA following AIHA. This combination without clear underlying disease is rare. Human parvovirus B19 infection was not detected in the marrow aspirate during reticulocytopenia. The patient received azathioprine, and PRCA improved but significant hemolysis was once again documented with a high reticulocyte count. The short time interval between AIHA and PRCA phase suggested an increased possibility of the evolution of a single disease.

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Rechallenge with clozapine, despite a history of clozapine-induced neutropenia is considered in patients with a good response to the drug in the past, for whom no other treatments are effective, and in cases where the risks of withholding treatment are greater than the risks of rechallenge. Dyscrasias that occur during rechallenge are reportedly earlier in onset and longer lasting. Strategies advocated during rechallenge include frequent monitoring of white blood counts, the use of lithium or Granulocyte-Colony Stimulating Factors. We report a case of a patient with treatment-resistant schizophrenia who developed neutropenia with clozapine as a result of which the drug was discontinued. However poor response to other first and second-generation antipsychotic medication and the persisting risk of harm to himself and others necessitated the reconsideration of clozapine. The patient was re-challenged with clozapine under the cover of Filgrastim, a Granulocyte-Colony Stimulating Factor.

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Treatment of basal cell carcinoma (BCC) usually involves surgical interventions and laser ablation, but in locally advanced BCC, which arise either from earlier untreated lesions or from recurrence of aggressive BCC, surgery and radiotherapy are not helpful. Vismodegib, the first oral-targeted therapy for locally advanced and metastatic BCC, unsuitable for surgery or radiotherapy, was recently approved by US Food and Drug Administration (FDA). The drug was under the priority review program of FDA and was approved on the basis of promising results of phase II trial. Vismodegib acts by targeting the hedgehog pathway, which is activated abnormally in most BCCs. Approval of vismodegib is a big step ahead in the treatment of advanced BCC, where there was no other effective drug therapy till now.

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Background: Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive with some risk of miscarriage. A non-invasive approach to obtain fetal deoxyribonucleic acid (DNA) for diagnosis would eliminate this risk. Aim: To develop and evaluate a non-invasive prenatal diagnostic approach for hemoglobinopathies using cell-free fetal DNA circulating in the maternal plasma. Settings and Design: Couples referred to us for prenatal diagnosis of hemoglobinopathies where the maternal and paternal mutations were different were included in the study. Materials and Methods: Maternal peripheral blood was collected at different periods of gestation before the invasive fetal sampling procedure was done. The blood was centrifuged to isolate the plasma and prepare DNA. A size separation approach was used to isolate fetal DNA. Nested polymerase chain reaction (PCR)-based protocols were developed for detection of the presence or absence of the paternal mutation. Results and Conclusions: There were 30 couples where the parental mutations were different. Of these, in 14 cases the paternal mutation was absent and in 16 cases it was present in the fetus. Using cell-free fetal DNA from maternal plasma, the absence of the paternal mutation was accurately determined in 12 of the 14 cases and the presence of the paternal mutation was correctly identified in 12 of the 16 cases. Thus, this non-invasive approach gave comparable results to those obtained by the conventional invasive fetal sampling methods in 24 cases giving an accuracy of 80.0%. Although the nested PCR approach enabled amplification of small quantities of cell-free DNA from maternal plasma at different periods of gestation after size separation to eliminate the more abundant maternal DNA, an accurate diagnosis of the presence or absence of the paternal mutation in the fetus was not possible in all cases to make it clinically applicable.

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Chronic hepatitis C is a major public health problem and its burden is expected to increase in the near future. Out of six genotypes of hepatitis C virus (HCV) identified, genotype 1 is the most prevalent genotype in America and Europe. With peg-interferon alpha and ribavirin dual therapy, sustained virological response (SVR) is achieved in less than half of the patients infected with HCV genotype 1. Moreover, this dual therapy also causes many intolerable adverse effects. Telaprevir is an HCV protease inhibitor approved for chronic hepatitis C genotype 1 mono-infection. It is a type of direct acting antiviral drug acting through inhibition of viral non-structural 3/4A protease. It can be safely administered in mild hepatic dysfunction. Due to inhibition of CYP3A4 and P-glycoprotein, significant drug-drug interactions are possible with telaprevir. Trials have shown significantly higher SVR rates when telaprevir is added to peg-interferon alpha and ribavirin, particularly in patients with unfavorable prognostic factors. It is approved for use in treatment-naïve and previously treated patients. Rash and anemia are the major troublesome side-effects. Next-generation protease inhibitors may overcome the drawbacks of telaprevir and another approved HCV protease inhibitor - boceprevir. Evidence from small scale studies suggests that telaprevir may be used in conditions like HIV co-infection, post-transplantation and some HCV non-1 genotype infections also. Preliminary data show higher SVR rates with triple therapy even in patients with unfavorable interleukin-28B (IL28B) genotype. With development of other direct acting antivirals, it might be possible to treat chronic hepatitis C with interferon-free regimens in future. This article briefly reviews the properties of telaprevir and its status in the context of rapidly evolving aspects of management of chronic hepatitis C.

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Keratoacanthoma centrifugam marginatum (KCM) is a rare variant of keratoacanthoma characterized by a progressive peripheral growth with concomitant central healing. We report a case of a 50-year-old female who presented with multiple, veracious non-tender papules coalescing to form multiple plaques of varied diameter perioral, which was gradually progressive. On the basis of history, clinical presentation and histopathology, diagnosis of KCM was confirmed. We report this case because of atypical presentation and clinical rarity.

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Background: More than 85% of primary hyperparathyroidism (PHPT) cases are due to solitary, benign parathyroid adenomas. Recently, the success rate of Tc99m sestamibi scintigraphy in localization has made minimally invasive parathyroidectomy (MIP) more prominent. MIP is as effective as conventional bilateral neck exploration. Moreover, it offers lower morbidity, cost effectiveness, and better cosmetics effects. Aim: We aimed to evaluate the success of MIP, which happens only under local anesthesia, in this study. Materials and Methods: Total of 63 patients were operated for PHPT, of which 54 had solitary adenoma. Five patients underwent bilateral neck exploration under general anesthesia for thyroid nodules or unlocalizated adenomas. A total of 49 patients underwent MIP under local anesthesia without any sedation. During MIP, gamma probe was used for all patients. The patients were followed for parathyroid functions. Results: The mean age of 49 patients with MIP (5 male, 44 female) was 59 years. The mean follow-up time was 16.4 (±10.1) months (range: 2-36 months). Of the 49 patients, 47 (96%) were totally cured. In 2 patients, the procedure was switched to conventional bilateral neck exploration. Temporary hypocalcaemia was noted in 4 patients. Conclusions: If the adenoma is localizated, MIP under only local anesthesia can be performed with a high success rate. Gamma probe-guided MIP under local anesthesia is an effective and safe method. It has the advantage of being minimally invasive and, therefore, it should be preferred over the conventional method.

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A patient with erythema ab igne of shins is presented, caused by repeated thermal injury induced by a heating stove placed between the knees. This injury pattern has been repeatedly identified in diabetic patients involved in similar heating practice, underscoring a possible predisposition related to diabetic neuropathy.

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Background: Calculation of daily calorie needs is extremely essential in several aspects of public health nutrition. Aims: To check the applicability of the existing equations for the prediction of basal metabolic rate (BMR) for Indian adolescent population and to develop an appropriate equation for the estimation of BMR for Indian adolescent population. Materials and Methods: BMR was assessed in 152 healthy, adolescent student aged between 18 and 20 years. BMR is calculated from the measured skinfold parameters. Body density was determined by the equation suggested by Durnin and Wormley using the skinfold parameters (triceps, subscapula, biceps, and SIM). Siri's equation is employed for calculating the percentage of body fat from the body density. Eventually, the BMR is calculated using Cunningham's equation. The actual BMR's were compared with values obtained from published prediction equations that used solely, or in various combinations, measures of height, weight, and age. Results: The equations suggested in the literature (Henry, Schofield, and Cole) are not able to predict the BMRs for Indian adolescent population. Hence, a new equation involving weight of an individual is suggested for Indian adolescent population. Conclusions: There is a need for generation of appropriate BMR prediction equations for Indian population for various age groups.

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