43 research outputs found

    Genetic Polymorphisms of CYP2C19 and Resistance to Clopidogrel Therapy among Iranian Patients Suffering from Ischemic Heart Disease

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    Protection provided by hepatitis B vaccine in adult population of Chaharmahal and Bakhtiari province, Iran in 2013

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    Introduction: Hepatitis B vaccination has been integrated into National Expanded Program on Immunization in Iran since the year 1993 and young adult national vaccination project was done in 2008. So we have three subpopulations with vaccination coverage for hepatitis B and different antibody levels. Consisting of Subpopulation 1 born after 1993, subpopulation 2 born between 1989 and 1993 and receiving vaccination under adult national project, and subpopulation 3 born prior to the year 1989. Aim: The present study was conducted to investigate community protection by hepatitis B vaccine in adult population in an accessible population in Iran and compare vaccination coverage, HBs Ab level, and its effective titration among the three above-mentioned subpopulations. Materials and Methods: This cross-sectional study was done on a 3000-individual adult population from all seven counties of Chaharmahal and Bakhtiari province enrolled by clustering. After obtaining written consent and filling out a questionnaire of demographic data and history of hepatitis B vaccination by trained interviewers, necessary blood sample was taken and HBs Ab titration was checked. The data were analysed by chi-square in SPSS 19. The level of significance was considered as 0.05 and effective Ab titration as ≥ 10. Results: The mean age of the participants was 38.4±16.3 years. Of the participants 48.2% had effective titration. For vaccination coverage, 77.4% were unvaccinated, 20% completely vaccinated, and 2.6% incompletely vaccinated with a significant association with effective titration (p<0.001). Eighty six percent of the subpopulation 1 and 79% of the subpopulation 2 were completely vaccinated, with a significant difference in effective titration between them (p<0.001). Vaccination coverage was higher in men and the single but equal in cities and villages. The effective titration was significantly associated with being married and residence place (p=0.003). There was a significant association between effective titration and the time at vaccination (p<0.001). Conclusion: Protection provided by hepatitis B vaccine in adult population is relatively suitable especially in the youth population; however, catch-up programs of the groups exposed to risk are recommended. © 2016, Journal of Clinical and Diagnostic Research. All rights reserved

    Polymorphism and synergism of angiotensin-converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) genes in coronary artery disease

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    Introduction: Among the genetic factors for coronary artery diseases, PAI-1 4G/5G and ACE I/D polymorphisms can be noted. This study was carried out to investigate the association of these two polymorphisms and their synergism in coronary artery disease (CAD) from a sample of the Iranian population. Materials and methods: Sixty-one patients with a history of CAD and 92 healthy controls participated in our study. After DNA extraction from leukocytes, PCR was performed to characterize PAI-1 4G/5G and ACE I/D polymorphisms, using an amplification refractory mutation system technique. Results: In the studied patients, PAI-1 polymorphisms were 24.6, 45.9, and 29.5 for 4G/4G, 4G/5G and 5G/5G, respectively; the values for controls were 20.7, 42.2 and 37.0. The distribution rates of genotypes I/I, I/D and D/D in patients accounted for 29.5, 45.9 and 24.6; in the control group these figures were estimated to be 40.2, 40.2 and 19.6. Conclusion: Single and multivariate analyses showed a significant difference for the conventional risk factors, including hypertension, diabetes, hyperlipidemia, smoking and family history, for CAD between patients and controls (p value 0.001). However, no significant correlation was demonstrated considering ACE and PAI-1 polymorphisms either in association with 4G/4G or D/D genotypes or a combination of them in the Iranian population in the current study. © 2015 The Author(s)

    The impact of N-myc amplification on median survival in children with neuroblastoma

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    Background: Neuroblastoma is the most common extracranial malignant solid tumor in children under 5 years, and it is characterized by wide clinical and biological heterogeneity. N-myc oncogene amplification is considered to be one of the most important prognostic factors used to evaluate survival in these patients. Objectives: The aim of our study was to determine amplification of the N-myc oncogene using real-time quantitative polymerase chain reaction (PCR) and to show the influence of N-myc amplified tumors on the overall survival rate. Patients and Methods: This study is an analytical historical cohort study of forty children with neuroblastoma admitted to the Shafa Hospital, Iran from 1999 to 2010. Paraffined blocks of tumoral tissue were analyzed for N-myc amplification by a PCR. The degree of N-myc amplification was derived from the ratio of the N-myc oncogene and the single copy reference gene, NAGK. In the statistical analysis, a Kaplan-Meier survival analysis was used. Results: We found a variable degree of N-myc amplification, from 3 to 2 200, in 32 of the 40 neuroblastomas (80%). NMYC amplification was seen more frequently in patients older than 2.5 years (71.9%), stage 4 (65.6%) and female (53.1%). Median survival time in the males was significantly longer than in the females (P = 0.03). The overall median survival for N-myc amplified tumor patients was 20 months, and 30 months for the non amplified tumors. Conclusions: The N-myc amplified tumors may increase the probability of more aggressive behavior and rapid tumor progression, especially in advanced stages of neuroblastoma. This study confirmed the importance of obtaining correct measurements of oncogene amplification in the early evaluation of neuroblastomas in order to target more aggressive therapies in patients with a higher risk of cancer progression

    Impact of N-myc amplification on median survival in children with neuroblastoma

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    Background: Neuroblastoma is the most common extracranial malignant solid tumor in children under 5 years, and it is characterized by wide clinical and biological heterogeneity. N-myc oncogene amplification is considered to be one of the most important prognostic factors used to evaluate survival in these patients. Objectives: The aim of our study was to determine amplification of the N-myc oncogene using real-time quantitative polymerase chain reaction (PCR) and to show the influence of N-myc amplified tumors on the overall survival rate. Patients and Methods: This study is an analytical historical cohort study of forty children with neuroblastoma admitted to the Shafa Hospital, Iran from 1999 to 2010. Paraffined blocks of tumoral tissue were analyzed for N-myc amplification by a PCR. The degree of N-myc amplification was derived from the ratio of the N-myc oncogene and the single copy reference gene, NAGK. In the statistical analysis, a Kaplan-Meier survival analysis was used. Results: We found a variable degree of N-myc amplification, from 3 to 2 200, in 32 of the 40 neuroblastomas (80%). NMYC amplification was seen more frequently in patients older than 2.5 years (71.9%), stage 4 (65.6%) and female (53.1%). Median survival time in the males was significantly longer than in the females (P = 0.03). The overall median survival for N-myc amplified tumor patients was 20 months, and 30 months for the non amplified tumors. Conclusions: The N-myc amplified tumors may increase the probability of more aggressive behavior and rapid tumor progression, especially in advanced stages of neuroblastoma. This study confirmed the importance of obtaining correct measurements of oncogene amplification in the early evaluation of neuroblastomas in order to target more aggressive therapies in patients with a higher risk of cancer progression

    Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study

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    Background: Many genetic factors, including polymorphisms in the genes regulating blood coagulation and fibrinolysis have been proposed as risk factors for coronary artery disease (CAD). PAI-1 is the chief inhibitor of tissue plasminogen activator and urokinase plasminogen activator. PAI-1 has a crucial role in regulation of fibrinolysis.Aim of the study: Is to investigate the association between Plasminogen activator inhibitor-1 (PAI-1) 4G/5G, PAI-1C/G polymorphisms and CAD. In addition, studying the relation of these polymorphisms to the level of active PAI-1 in Egyptian patients presenting to a single tertiary center in Cairo.Subjects and methods: One hundred and forty-four patients were included in this study: 42 STEMI (ST elevation myocardial infarction) patients, 63 stable angina patients, and 39 as a control group. Detection of PAI-1 4G/5G and C &gt; G polymorphisms was done using allele specific polymerase chain reaction and restriction fragment length polymorphism (RFLP) respectively. Plasma plasminogen activator inhibitor-1 activity was detected using enzyme linked immunosorbent assay (ELISA).Results: In the studied CAD patients, PAI-14G/5G polymorphism showed 31.7%, and 68.3% for 5G/5G, and (4G/5G + 4G/4G) respectively; however for the control group, 5G/5G, and (4G/5G + 4G/4G) were detected in 21.6%, and 78.4% respectively (p value 0.59). The genotypic frequencies for PAI-1C/G in CAD patients accounted for 27% (CC), 73% (CG + GG); while in the control group these frequencies were 35.3%, and 64.7% respectively (p value 1.43).Conclusion: No significant association between PAI-1 4G/5G and C &gt; G polymorphisms and the risk of coronary artery disease or the activity level of PAI-1 among the studied Egyptian population sample. However, STEMI patients showed significant presence of combined mutant allele of both genes more frequently.Keywords: Coronary artery disease, Plasminogen activator inhibitor, Genetic polymorphism, 4G/5G, C&gt;

    The Effect of Angiotensin-Converting Enzyme Gene Polymorphisms in the Coronary Slow Flow Phenomenon at South Sumatra, Indonesia Population

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    BACKGROUND: The coronary slow flow phenomenon (CSFP) is believed to be affected by endothelial dysfunction ruled by renin, angiotensin, aldosterone, and the angiotensin-converting enzyme (ACE). The gene of ACE has been characterized in humans by a major insertion (I)/deletion (D) polymorphism. Serum ACE levels were associated with I/D polymorphism in the ACE-encoding gene. AIM: This study explored and analyzed the role of ACE gene polymorphism risk factors with the incidence of CSFP in the population of South Sumatra, Indonesia. METHODS: This study was a cross-sectional analytic observational study. A total of 112 CSFP and non- CSFP patients participated in this study. Blood was obtained from the study subjects then processed. Angiotensin I and aldosterone levels were examined using the enzyme-linked immunosorbent assay. The Judkins method was used in the assessment of coronary angiography, which was carried out through the femoral artery. For the examination of ACE I/D polymorphisms, genome deoxyribonucleic acid was extracted from blood cells (leukocytes), using the Wizard’s purification system and examined using the polymerase chain reaction method. All data were evaluated through the Chi-square test, two samples t-test, and Mann–Whitney U-test. All tests used two-sided significance and p &lt; 0.05 was considered statistically significant. RESULTS: ACE I/D gene polymorphism possessed a significant effect in increasing the risk of CSFP. Genotype II polymorphism increased the risk of CSFP as much as 6.9 times compared to individuals with ID/DD genotype. The existence of allele I increased the risk of CSFP 5.7 times compared to allele D. Levels of angiotensin I and aldosterone were increased significantly in patients with CSFP. CONCLUSION: ACE I/D gene polymorphism possessed a significant effect in increasing the risk of CSFP. Genotype of II was the risk factor for the development of CSFP in population of South Sumatra, Indonesia

    Age Stratification in Genetic Variation of Lipoprotein Lipase in Metabolic Syndrome Javanese Ethnics of Indonesia

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    BACKGROUND: Metabolic syndrome (Met-S) that caused by heredity and Lipoprotein Lipase (LPL). LPL is involved in the metabolism of serum lipids. Variations in LPL alter enzyme activity, and the most common variations are LPL +495 T &gt; G and LPL Pvu II C &gt; T. AIM: This study aimed to identify the role of LPL +495 T &gt; G and LPL PvuII C &gt; T gene variations in subjects with Met-S in Javanese ethnic based on age stratification. METHODS: We recruited 160 participants of Javanese ethnicity consisting of 80 cases and 80 control subjects. Met-S was diagnosed according to the criteria of NCEP ATP III. Peripheral blood samples were collected to determine biochemical parameters. Screening for both polymorphisms was made by PCR-RFLP. RESULTS: Results found that genotype and allele frequencies for LPL +495 T &gt; G were not significantly different between Met-S and controls with and without age stratification. In LPL PvuII C &gt; T based on age stratification, there were significant differences between TT vs CC, recessive and dominant models in Met-S and control. In the age group &gt; 45 years CC genotypes and TC+CC had increased risk of Met-S compared to TT genotypes. In summary, there was no significant association between LPL +495 T &gt; G gene variation with Met-S. CONCLUSION: In LPL PvuII gene variation, TC + CC is the risk genotype of Met-S in the age group &gt; 45 years

    The non-genomic loss of function of tumor suppressors: an essential role in the pathogenesis of chronic myeloid leukemia chronic phase

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    BACKGROUND: Chronic Myeloid Leukemia was always referred as a unique cancer due to the apparent independence from tumor suppressors’ deletions/mutations in the early stages of the disease. However, it is now well documented that even genetically wild-type tumor suppressors can be involved in tumorigenesis, when functionally inactivated. In particular, tumor suppressors’ functions can be impaired by subtle variations of protein levels, changes in cellular compartmentalization and post-transcriptional/post-translational modifications, such as phosphorylation, acetylation, ubiquitination and sumoylation. Notably, tumor suppressors inactivation offers challenging therapeutic opportunities. The reactivation of an inactive and genetically wild-type tumor suppressor could indeed promote selective apoptosis of cancer cells without affecting normal cells. MAIN BODY: Chronic Myeloid Leukemia (CML) could be considered as the paradigm for non-genomic loss of function of tumor suppressors due to the ability of BCR-ABL to directly promote functionally inactivation of several tumor suppressors. SHORT CONCLUSION: In this review we will describe new insights on the role of FoxO, PP2A, p27, BLK, PTEN and other tumor suppressors in CML pathogenesis. Finally, we will describe strategies to promote tumor suppressors reactivation in CML

    HUBUNGAN CYCLE THRESHOLD (CT) VALUE DAN HITUNG LIMFOSIT ABSOLUT DENGAN DERAJAT KEPARAHAN PASIEN CORONAVIRUS DISEASE 2019 (COVID-19)DI RSUP. DR. M. DJAMIL PADANG

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    Coronavirus Disease 2019 (COVID-19) merupakan suatu kasus yang telah menyebar ke berbagai negara, termasuk Indonesia akibat penularan SARS-CoV-2. Sumatera Barat, khususnya kota Padang merupakan lokasi penyebaran COVID-19 yang tinggi di Indonesia terutama pada bulan Juni - Agustus 2021. Pemantauan progresifitas penyakit COVID-19 perlu dilakukan lebih lanjut untuk menangani pandemi ini. Tujuan dari penelitian ini adalah untuk mengetahui hubungan Cycle Threshold (Ct value) dan hitung limfosit dengan derajat keparahan gen ORF COVID-19 di RSUP Dr. M. Djamil Padang periode Juni-Agustus 2021. Jenis penelitian ini adalah observasional analitik dengan pendekatan cross sectional dengan uji korelasi Spearman, One Way ANOVA, dan Kruskal-Wallis. Sampel penelitian diambil dengan Teknik convenient sampling dan didapat dari data rekam medis 106 pasien terkonfirmasi COVID-19 yang dirawat inap dengan derajat keparahan sedang-kritis. Hasil penelitian menunjukkan bahwa pasien didominasi berusia 56-65 tahun (30,2%), perempuan (51,9%), komorbid hipertensi (27,6%). Median(IQR) Ct value adalah 23,5(10) dan mean standard deviation hitung limfosit absolut adalah 121356. Terdapat hubungan antara Ct value dan derajat keparahan COVID-19 (p=0,019), hitung limfosit absolut dan derajat keparahan COVID-19 (p<0,01), korelasi negatif yang sangat lemah pada Ct value dan hitung limfosit absolut (p = 0,040, = -0,200). Harapan dari penelitian ini adalah ilmu terkait COVID-19 bisa bertambah dan penanganan terhadap COVID-19 dapat dilakukan lebih cepat karena pengenalan progresifitas penyakit melalui proses diagnostik telah dilakukan dengan baik
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