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BACKGROUND: Factor V G1691A (FV Leiden), FII GA20210, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are the most common genetic risk factors for thromboembolism in the Western countries. However, there is rare data in Iran about cerebral venous and sinus thrombosis (CVST) patients. The aim of this study was to evaluate the frequency of common genetic thrombophilic factors in CVST patients. MATERIALS AND METHODS: Forty consequently CVST patients from two University Hospital in Isfahan University of Medical Sciences aged more than 15 years from January 2009 to January 2011 were recruited. In parallel, 51 healthy subjects with the same age and race from similar population selected as controls. FV Leiden, FII GA20210, MTHFR C677T, and FV Cambridge gene mutations by polymerase chain reaction technique were evaluated in case and control groups. RESULTS: FV Leiden, FII GA20210, and FV Cambridge gene mutations had very low prevalence in both case (5%, 2%, 0%) and control (2.5%, 0%, 0%) and were not found any significant difference between groups. MTHFR C677T mutations was in 22 (55%) of patients in case group and 18 (35.5%) of control group (P = 0.09). CONCLUSION: This study showed that the prevalence of FV Leiden, FII GA20210, and FV Cambridge were low. Laboratory investigations of these mutations as a routine test for all patients with CVST may not be cost benefit.
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Objective: Prostaglandin I2 receptor plays a major physiologic role in the relaxation of arterial smooth muscle and vasodilation and possibly during migraine attacks. Therefore, in this study, the coding and noncoding exons and exon-intron boundaries of Prostaglandin I2 receptor gene were examined in patients with migraine headache and healthy controls and the potential effects of identified single nucleotide variations were evaluated using direct PCR-sequencing and in silico analysis. Method : In this study, the peripheral blood samples of 50 patients and 50 controls were examined to find any mutation in coding and noncoding exons and exon-intron boundaries of PTGIR gene. DNA was extracted and all the samples were amplified by polymerase chain reaction (PCR) and sequenced. Results: In this study, the patients had a mean age of 35.235 ± 10.99 years (range, 9-60 yrs.), and female to male ratio was 4:1 in this group. The controls had a mean age of 35.058 ± 11.116 years (range, 8-59 yrs.), and female to male ratio was 3.7:1.3 in this group. Two patients had mutations in exon 2. The first mutation was located in exon 2 (at amino acid position 251) of PTGIR gene at nucleotide position c.866A > T, a synonymous variant described previously in the database. The second mutation was located in exon 2 c.867G > A, which is a missense variant. Sequence analysis revealed high occurrence of previously reported intronic variants mostly in a homozygous statue. Conclusion: The data supported the hypothesis that mutations in PTGIR gene, particularly the mutation we described, should be considered even in cases of migraine. The presence of this mutation in patients with family history raises important issues regarding genetic counselling.
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Objective: The human prostacyclin receptor gene encodes the human prostacyclin receptor, which is a part of the vasodilator system, during migraine attacks and almost certainly plays an important role in the mechanism of this disease. Method: The present study aimed at determining any variants in PTGIR gene by means of PCR and direct sequencing. Blood samples were taken from the patients, and genomic DNA was extracted. Polymerase chain reaction was performed on the extracted DNA. The PCR products were then sequenced using the Sanger method. Results: When reviewing the familial and clinicopathological history of the 2 patients, we found that both had symptoms of migraine with visual aura and that their mothers were also suffering from migraine. Their parents were not relatives prior to marriage. Direct sequencing of Exon 2 of the PTGIR gene showed the presence of 2 mutations. These mutations were heterozygous and made the following changes: g.1626T>A, c.754T>A, cDNA.867T>A, and p.S252T for the first mutation, and c.753C>T, cDNA866C>T, g.1625C>T, and p.C251C for the second mutation. The first mutation altered the amino acid and was a novel mutation. The second change was a conservative mutation that has already been reported. Conclusion: The prediction results of silico studies indicated that the c.754T>A change would negatively affect the protein's function and seemed to cause the disease. However, functional analysis is required to confirm the association between the variant and the disease.
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BACKGROUND: Migraine is the most common chronic neurological disorders that may be associated with vasodilatation. According to the role of prostaglandin I2 (prostacyclin) receptor (PTGIR) in migraine as a receptor, which acts in vasodilatation, we decided to study the changes of PTGIR expression in migraine patients in relation to a suitable control group. MATERIALS AND METHODS: Extracted mRNA from lymphocytes of 50 cases and 50 controls was used to synthesize cDNA. Real-time polymerase chain reaction was performed, and the data were analyzed. Our results show that PTGIR mRNA expression in cases was significantly higher than the control group (P = 0.010). RESULTS: In conclusion, mRNA expression of PTGIR in the blood of people with migraines could be considered as a biomarker. CONCLUSION: In addition, repression of PTGIR gene expression by methods such as using siRNA is probably suitable for therapy of migraine patients.
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BACKGROUND: Different risk factors have been suggested for ischemic stroke in young adults. In a group of these patients despite of extensive diagnostic work-up, the primary cause remains unknown. Coagulation tendency is accounted as a possible cause in these patients. Previous studies on factor V Leiden (FVL) as the main cause of inherited thrombophilia for clarifying the role of FVL in stroke have resulted in controversial findings. The current study investigates the role of this factor in ischemic stroke among Iranians. MATERIALS AND METHODS: This case-control study was performed between September 2007 and December 2008 in Isfahan, Iran. The case group comprised of 22 patients of which 15 were males and 7 were females with age range of ≤50 years, diagnosed as ischemic stroke without classic risk factors and the control group consisted of 54 healthy young adults. After filling consent form, venous blood samples were obtained and sent to the laboratory for genetic examination. RESULTS: No FVL mutation was found in the case group. There was one carrier of the mutation as heterozygous in the control group (relative frequency = 1.85%). CONCLUSIONS: Based on our study, FVL might not be considered as an independent risk factor for ischemic stroke in Iranian individuals who are not suffering from other risk factors of ischemic stroke.
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BACKGROUND: Stroke in young adults is a known but abnormal disease. Several recent studies have discussed the correlation between existence of coagulation factors such as V Leiden and prothrombin mutation (G20210A) as risk factors for incidence of stroke. The present study investigated the frequency of prothrombin gene mutation and its impact on incidence of ischemic stroke in Iranian youth. METHODS: This was a case-control study using convenient sampling method on seventy six 18 to 50-year-old people provided that they did not have classical risk factors for stroke. Case group comprised 22 patients with ischemic stroke (15 males and 7 females). Fifty four healthy people (17 males and 37 females) were selected as the control group. Participants in both groups were recruited within 26 months (23.9.2007 to 21.11.2009) in Al-Zahra Hospital, Isfahan, Iran. RESULTS: Prothrombin was not found in any of the studied patients. Heterozygous mutation was observed in one of the samples of the control group (1.85%). CONCLUSION: Despite the known effect of prothrombin gene mutation on incidence of venous thrombosis, it does not seem this factor, as an independent factor, can be considered as a risk factor to create ischemic stroke in people who do not have other risk factor.
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Mycosis fungoides (MF) is an extranodal non-Hodgkin's lymphoma with primary involvement of the skin. The aim of the present study was to determine the incidence rate of MF in Isfahan (Iran) and to compare the results with other reports. We collected our data from the MF clinic of Alzahra Hospital which is the main center for treatment of MF patients in Isfahan (2007-2008). Eleven cases were reported to the MF clinic of Alzahra during the study, seven of which were diagnosed as MF. The incidence rate of MF in Isfahan in 2007-2008 was 3.91/1 million persons. The age spectrum was 28-80 years and the mean 43.14 years. The male : female ratio was 3:4. In conclusion, the incidence rate of MF in Isfahan (Iran) is similar to other areas. However, the male : female ratio is opposite to that of other studies.