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Mashru M.R.,Sir spital And Research Center
Indian heart journal | Year: 2010

To analyze soluble levels ofcell adhesion molecules (CAM) such as Intercellular CAM (ICAM), vascular CAM (VCAM-1), platelet endothelial CAM (PECAM-1), Endothelial (E)-selectin, and Platelet (P)-selectin in coronary artery disease patients and correlate with degree of severity of the disease. Study population included patients who suffered myocardial infarction at presentation (N=49) and those with unstable angina (N=79) and stable angina (N=14). Soluble levels of CAMs were measured by ELISA. At acute event in AMI patients, there was significant rise of soluble (s) E-selectin (4.5 fold, P = 0.001), sVCAM-1 (65.6%, p = 0.001), sPECAM-1 (46.2%, p = 0.02), sP-selectin (42.7%, p = 0.001) and sICAM-1 (20.1%, p = 0.003) as compared to controls. In unstable angina group as compared to AMI there was significant decrease in the levels observed in, sE-selectin (62.7%, p = 0.001), sPECAM-1 (47.5%, p = 0.001) as well as sVCAM-1 (17.9%, p = 0.04) and insignificant decrease with respect to sICAM-1 and no change with respect to sP-selectin levels. Stable angina group as compared to unstable angina group demonstrated no significant difference in sCAMs and the trend with AMI group was similar to that seen between unstable angina and AMI group. Significantly elevated levels of sE-selectin, sVCAM-1 and sPECAM-1 at acute event suggest them to be causal molecules as well as markers of plaque destabilization. Levels of sP-selectin in stable angina were similar to that observed in AMI and unstable angina groups suggesting elevated platelet activation in stable angina as well.

Desai M.P.,Sir spital And Research Center | Desai M.P.,Sir Hurkisondas Nurrotumdas Medical Research Society | Mithbawkar S.M.,Sir Hurkisondas Nurrotumdas Medical Research Society | Upadhye P.S.,Sir Hurkisondas Nurrotumdas Medical Research Society | And 3 more authors.
Indian Journal of Pediatrics | Year: 2013

Objective: To screen Isolated Growth Hormone Deficiency (IGHD) patients with congenital Familial Isolated (FIGHD) and Nonfamilial Isolated Growth Hormone Deficiency (NFIGHD) for GH1gene deletions (6.7 kb,7.6 kb,7 kb) and Growth hormone releasing hormone receptor GHRHR(E72X) gene mutation and study genotype/phenotype correlation in this multicentre study. Methods: Clinical, auxologic (Ht.SDS ≤ -2.5), hormonal and MRI evaluation of hypothalamic/pituitary (HP) axis, IGF1, IGFBP3 estimation and GH stimulation test confirmed IGHD in 107 patients. Of these 107 patients, 97 consented for molecular genetic studies. Height, weight and Bone Age (BA) were obtained. PCR based restriction digestion method was used for molecular genetic analysis of patients and families. Ethics committee approval was obtained. Results: Based on the genotype, these 97 patients (M60,F37;1.62:1) age 3 mo to 17 y belonging to 80 families (consanguinity, 15/80), were categorized into Group I with GH1 gene deletion, n = 17 (17.5 %) from 14 families, Group II with GHRHR (E72X) mutation n = 34 (35 %) from 24 families, Group III, n = 46 (47 %) from 42 families having neither of these deletions/mutations (but with sibling involvement). In Group I, homozygous 6.7 kb and 7.6 kb deletions involved 76 % and 18 %. 6.7 kb deletion with characteristic IGHD phenotype predominated in nonconsanguineous community from Rajasthan having lowest mean FBS (55.6 mg/dl, p < 0.001) and peak GH (0.03 ng/dl, p < 0.01). In Group II phenotype was IB. Twenty one of the 23 FIGHD had homozygous GHRHR(E72X) mutation and four with IGHD had heterozygous GHRHR(E72X) mutation. IGF1 and IGFBP3 were low. MRI showed hypoplastic anterior pituitary (APH) in all. Group III is not discussed in detail. Conclusions: Genetic background is more likely in congenital Growth Hormone Deficiency (GHD). GH1gene deletions and GHRHR(E72X) mutation with characteristic phenotypes are encountered in North Western region of India. Regional studies are essential. © 2013 Dr. K C Chaudhuri Foundation.

Shalia K.,Sir H N Medical Research Society | Saranath D.,Narsee Monjee Institute of Management and Higher Studies | Shah V.K.,Sir spital And Research Center
Journal of Clinical Laboratory Analysis | Year: 2015

Background: ATP binding cassette transporter-A1 (ABCA1) facilitates the formation of high density lipoprotein (HDL). HDL due to its anti-atherosclerotic, anti-inflammatory and anti-thrombotic activities provides protection against atherothrombosis or myocardial infarction (MI). The aim was to investigate the role of peripheral blood mononuclear cell (PBMNC) ABCA1 expression in MI. Methods: The participants comprised 29 males with acute MI (AMI) and 20 healthy controls. AMI patients were normotensive, not on statins, with triglycerides < 200mg/dl and categorized into AMI with type 2 diabetes (T2DM) (N = 12) and without T2DM (N = 17). The PBMNC ABCA1 mRNA transcripts were analysed by quantitative real-time polymerase chain reaction (qRTPCR) and protein by enzyme linked immunosorbent assay (ELISA). Results: PBMNC ABCA1 mRNA transcript and protein levels were not significantly different in AMI patients or when sub-grouped into with/without T2DM, as compared to controls. ABCA1 protein correlated positively with HDL-cholesterol (r = 0.655, p = 0.021) in AMI patients with T2DM and negatively with age (r = - 0.525, p = 0.031) in AMI patients without T2DM and it was more strongly associated in latter group with smoking and alcohol habit. Conclusion: In the present study, the effects of metabolites of diabetes and ischemia were observed on PBMNC ABCA1 protein and thus on HDL-C in AMI patients. Further influence of risk factors such as smoking and alcohol consumption observed in the present study can be evaluated in larger sample size. The control of these cardiovascular associated risk factors may increase stability of PBMNC ABCA1 protein and thus HDL-C levels. © 2014 Wiley Periodicals, Inc.

Shalia K.K.,Sir H N Medical Research Society | Doshi S.M.,Sir spital And Research Center | Parikh S.,Sir spital And Research Center | Pawar P.,Sir H N Medical Research Society | And 6 more authors.
Journal of Association of Physicians of India | Year: 2012

Objectives: The clinical effectiveness of Warfarin is established. Patients require different warfarin dosages to achieve the target therapeutic anticoagulation. The variability of Warfarin dosage is largely genetically determined, and it can be partly explained by the C1173T and G-1639A polymorphisms of vitamin K epoxide reductase complex subunit 1 (VKORC1) which is its target and *2 and *3 allele of Cytochrome P-450 (CYP) 2C9 [CYP2C9] enzyme which metabolizes to its inactive form. Aim of the present study was to determine the prevalence of these variant alleles known to influence the warfarin dose and correlate genotypes with the average INR as well as mean dose of Warfarin required to maintain INR, in the Indian population. Methods: Study population included 100 healthy individuals and 83 patients operated for Aortic or Mitral Valve replacement and prescribed warfarin thereafter. Of these 83 patients records of INR for the period of six months and mean maintenance dose (stable therapeutic dose) of warfarin required to maintain INR were available for 26 patients. For the remaining patients, apart from their demographic data only maintenance dose was available. Genotyping of above mentioned polymorphisms was carried out by using PCR-based restriction digestion method. Results: Although less as compared to wild type alleles, the variant alleles of CYP2C9*2 and *3 as well as of VKORC1 polymorphisms (C1173T and G-1639A) were observed in our study population. Mean maintenance dose (mg/day) of Warfarin was in the decreasing order of patients as compared to the wild type genotypes for all above mentioned polymorphisms. The decrease in the dose was in the order of heterozygotes for CYP2C9*2 to CYP2C9*3 to C1173T and G-1639A of VKORC1 (P<0.001). There was significant correlation (r=0.51, P<0.001) observed between the dose estimated by pharmacogenetic algorithm of Sconce et al (2005) and actual stable therapeutic dose. INR was high for mutant variants (3.8 to 4) after first dose suggesting that they require decreased mean daily dose of Warfarin. Conclusion: In the present study the effect of CYP2C9*2, *3, and VKORC1 (C1173T and G-1639A) genotypes on warfarin dose was observed. However, the genotyping has not been incorporated into daily practice. Perhaps more practical approach would be for clinicians to take genotype information into consideration along with other factors when dosing warfarin. © JAPI.

Shalia K.K.,Sir H N Medical Research Society | Mashru M.R.,Sir spital And Research Center | Soneji S.L.,Sir spital And Research Center | Shah V.K.,Sir spital And Research Center | And 7 more authors.
Indian Journal of Clinical Biochemistry | Year: 2010

Platelet-endothelial cell adhesion molecule-1 (PECAM-1) has role in atherosclerotic plaque development as well as in thrombosis leading to myocardial infarction (MI). Present study was aimed to analyse the association of PECAM-1 Leu125Val gene polymorphism with MI in Indian population. Subjects included healthy individuals as control (N = 116) and MI patients (N = 100) divided into two groups; MI patients at presentation of the acute event (MI-Group-1, N = 46) and patients with recent event of MI stabilized with treatment 4.5 days from their symptoms (MI-Group-2, N = 54). The difference in the distribution of Leu125Val genotype frequencies of controls and patients did not reach statistical significance. However Leu allele frequency (0.57) was more associated with MI patients as compared to control (0.504). sPECAM-1 levels were significantly elevated in patients at acute event of MI (MI-Group-1) by 44.1% (P = 0.009) as compared to controls and by 95.2% (P = 0.001) as compared to stabilized MI patients (MI-Group-2). © 2010 Association of Clinical Biochemists of India.

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