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Bazrgar M.,Royan Institute for Reproductive Medicine | Bazrgar M.,Human Genetic Research Group | Peiravian F.,Islamic Azad University at Kazeroon | Abedpour F.,Islamic Azad University at Kazeroon | Karimi M.,Shiraz University of Medical Sciences
Pediatric Hematology and Oncology | Year: 2011

There are limited studies that have focused on the causes for hospitalization as an indicator of morbidity in patients with β-thalassemia major (BTM). A cross-sectional study was conducted to determine the main causes for hospitalization and death in hospitalized BTM patients in a referral hospital in Shiraz, southern Iran. During a 5-year period, 555 BTM patients were admitted to the hospital, of which 390 (67.7%) were 10 to 20 years of age. The most frequent causes for hospitalization were splenectomy (23%), heart failure (22.6%), liver biopsy (22.2%), uncontrolled diabetes (10.9%), arrhythmia (7.2%), cholecystectomy (3.8%), hypoparathyroidism (2.1%), and sepsis (2%). Of the hospitalized patients, 65 (11%), with a mean age of 16.1 ±Â± 4.2 years, died. The most common causes of death were cardiomyopathy (72.3%), infections (17%), malignancies (3.1%), and cerebrovascular accidents (3.1%). Survival of our patients was less than in developed countries and cardiac complications were the most common cause of mortality and morbidity in these patients. Regarding the key role of iron chelation in prevention of different complications in BTM, correction of iron chelation regimen should be well considered. © 2011 Informa Healthcare USA, Inc.

Bazrgar M.,Royan Institute for Reproductive Biomedicine | Bazrgar M.,Human Genetic Research Group | Karimi M.,Shiraz University of Medical Sciences
Genetic Testing and Molecular Biomarkers | Year: 2012

Hyperuricemia, dyslipidemia, and apolipoprotein E (apoE) polymorphism are risk factors for cardiovascular diseases (CVDs). This study sought to determine the association of apoE gene polymorphism with hyperuricemia and dyslipidemia in young healthy people. Association of serum uric acid (SUA) and serum lipids with apoE was studied by analysis of variance in 198 healthy southern Iranian candidates. Subjects with an E2/E3 genotype had a lower cholesterol level in comparison with E3/E3 individuals. In addition, male E3/E4 subjects had a lower SUA level in comparison with other men. Lower cholesterol levels in E2 carriers mean a lower risk for CVDs, while SUA, as another risk factor for CVDs, in male E4 carriers was low. Regarding the higher risk for CVDs in men and the known role of SUA and apoE polymorphism in CVDs, it is not simple to guess the net effect of each one of these risk factors. This is the first report to study the association between SUA level and apoE in healthy men. © 2012 Mary Ann Liebert, Inc.

Saffari B.,Human Genetic Research Group | Jooyan N.,Human Genetic Research Group | Bahari M.,Human Genetic Research Group | Senemar S.,Human Genetic Research Group | Yavarian M.,Shiraz University of Medical Sciences
EXCLI Journal | Year: 2012

Plasminogen activator inhibitor type-2 (PAI-2) is a serine protease inhibitor of the fibrinolytic system produced predominantly by the macrophages and monocytes. It has been demonstrated that fibrinolysis regulation has a great importance in the pathogenesis of atherosclerotic plaques. Thus in the current investigation, we sought to determine whether Ser 413/Cys polymorphism (rs6104) of PAI-2 gene could be associated with atherosclerosis and cardiovascular risk factors. Ser 413/Cys polymorphism was determined by PCR-RFLP technique using Mwo I restriction enzyme for 184 men under 50 years of age and 216 women less than 55 years of age who underwent diagnostic coronary angiography. Data on the history of familial myocardial infarction or other heart diseases, hypertension, and smoking habit were collected by a simple questionnaire. Fasting levels of blood sugar, triglycerides, total cholesterol, lowdensity lipoprotein and high-density lipoprotein cholesterol levels were also measured by enzymatic methods. Frequencies of the Ser 413 and Cys 413 alleles were 0.760 and 0.240 in the whole population, respectively. The PAI-2 gene variant analyzed was not significantly associated with either the prevalence of premature CAD or the classical risk factors of CAD development such as diabetes, serum cholesterol, triglycerides, low-density lipoprotein and highdensity lipoprotein cholesterol, body mass index, hypertension, familial history of heart dysfunction or smoking.

Davoudi-Dehaghani E.,Shahid Chamran University | Davoudi-Dehaghani E.,Tehran University of Medical Sciences | Foroughmand A.M.,Shahid Chamran University | Saffari B.,Human Genetic Research Group | And 6 more authors.
Frontiers in Biology | Year: 2011

To investigate the genetic structure of human populations in the South-west region of Iran, mitochondrial first hypervariable DNA sequences were obtained from 50 individuals representing three different ethnic groups from Khuzestan Province. Studied groups were Shushtari Persians and Chahar Lang Bakhtiyaries from Indo-European-speaking populations and Bani Torof Arabs from Semitic-speaking linguistic families. Genetic analysis of mtDNA data showed high similarity of Chahar Lang Bakhtiyaries with other Iranian Indo-European-speaking populations while Shushtaries and Bani Torofs had a closer affinity with Semitic-speaking groups rather than to other Iranian populations. The relationship of Chahar Lang Bakhtiyaries and Bani Torof Arabs with their neighbor populations can be explained by linguistic and geographic proximity. Whereas, the greater similarity of Shushtari Persians with West Asian Arabs is probably according to high gene flow between them. This article represents a preliminary study of three major ethnic groups of South-west Iran which investigates the potential genetic substructure of the region. © 2011 Higher Education Press and Springer-Verlag Berlin Heidelberg.

Jouyan N.,University of Tehran | Jouyan N.,Human Genetic Research Group | Saffari B.,University of Tehran | Saffari B.,Human Genetic Research Group | And 6 more authors.
Tehran University Medical Journal | Year: 2015

Background: Polymorphisms of the upstream transcription factor 1 (USF1) have been associated with familial combined hyperlipidemia (FCHL), type 2 diabetes and coronary heart diseases (CHD). In the current investigation, the association of USF1s2 variant of human USF1 gene with premature coronary artery disease (PCAD) was evaluated in a population from southern Iran. USF1s2 has the best potential as a functional variant.in the USF1 gene. Methods: In a case-control study USF1s2 variant of human USF1 gene was determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique using BsiHKA I restriction enzyme for 186 women under 55 years of age and 135 men less than 50 years of age who underwent diagnostic coronary angiography in Saadi, Nemazee and Kowsar Hospitals of Shiraz, between July 2009 and March 2012. Data on the history of familial myocardial infarction or other heart diseases, hypertension, and smoking habit were collected by a simple questionnaire. Blood sugar level and serum lipid profile of all participants were also obtained by measuring the levels of fasting blood sugar (FBS), total cholesterol (TC), triglycerides (TG), low density lipoprotein (LDL) and high-density lipoprotein cholesterol (HDL). Results: Frequencies of the major (G) and minor (A) alleles of usf1s2 gene variant were 0.74 and 0.26 in the whole population, respectively. Meanwhile, the prevalence of the minor allele was significantly higher in PCAD patients compared with control subjects. This difference remained significant even after adjustment for confounding parameters. Indeed, subjects with mutant homozygous genotype (AA) were about 5 times more likely to suffer from early-onset CAD than those with wild-type homozygous genotype (GG). Moreover, the baseline characteristics of the control subjects and patients were statistically similar for almost all parameters except for the number of male individuals; there was no significant difference among various genotypes in the patient group for any of these investigated variables. Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels. © 2015, Tehran University of Medical Sciences. All rights reserved.

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