Prothrombin Gene Research Articles

Échecs répétés de fécondation in vitro : anomalies retrouvées sur le bilan diagnostique

ObjectivesInvestigate the proportion of abnormalities identified on the diagnostic assessment performed after at least two previous failed IVF attempts. Discuss the real benefit of this evaluation. MethodsRetrospective descriptive study. Between January 2008 and January 2012, 205 couples with at least two consecutive failed IVF attempts had a diagnosis evaluation which consisted in couple's karyotypes; autoimmune and haemostasis biological check-up, pelvic ultrasound-Doppler and hysteroscopy for women. ResultsThe main biological anomalies were autoimmune for 23.9% of women: antinuclear antibodies (5.7%), antithyroid peroxidase (11.5%) and antithyroglobulin (8.3%); thrombotic with antiphospholipid antibodies for 8.2% of women (1.4% lupus anticoagulant and 6.8% anticardiolipin antibodies), and heterozygous prothrombin gene mutation for 9.5%. Karyotypes were abnormal for 2.1% of women and 0% of men. Ultrasound-Doppler appeared to be abnormal in 44.7% of cases (pulsatility index of uterine artery≥3 and/or protodiastolic notch), and diagnostic hysteroscopy was abnormal in 14.6% of cases. In order to target the real implantation failure, we compared the groups “<8 embryos transferred” versus “≥8 embryos transferred” and “pregnancy after the third or fourth IVF cycle” versus “no pregnancy”, but no statistically significant difference was found. ConclusionThe diagnostic assessment carried out for recurrent IVF failure can detect biological, karyotypic and morphological abnormalities, in the same proportion that in previous studies. Further studies will have to be conducted to evaluate the real impact of these abnormalities in the recurrent implantation failure and the effectiveness of therapeutic care.

Alterations in Platelet Activity and Elastic Modulus of Healthy Subjects, Carriers of G20210A Polymorphism in the Prothrombin Gene

Summary Platelet activation is a complex process in which platelet reorganization takes place associated with changes in the cell shape, topology, membrane elasticity and microparticle production. The aim of this study was to investigate the changes/aberrations in the platelet activity, elasticity and morphology in healthy subjects, carriers of A allele of prothrombin G20210A polymorphism. Blood samples from 18 healthy subjects were used for platelet analysis by force-mode atomic force microscopy. Restriction analysis was used to investigate the carriage of G20210A polymorphism in the prothrombin gene. Flow- cytometry was applied to evaluate platelet activation. Young’s modulus of the plasma membranes of platelets derived from healthy subjects, carriers of variant A allele of prothrombin 20210G&gt;A polymorphism (407±69 kPa) is two times higher than the one determined for non­carriers (195.4±48.7 kPa; p&lt;0.05). The background activity of platelets measured as an interrelation of Cd41/Cd61 and CD62 by flow cytometry was also higher in carriers of variant A allele of prothrombin 20210G&gt;A polymorphism (5.0%) than in non-carriers (1.3%). Platelets isolated from healthy carriers of variant A allele of prothrombin 20210G&gt;A polymorphism exhibited a higher level of activity and a higher degree of stiffness at the stage of spreading as compared to platelets from non­carriers.

Genetic Risk Factors of Venous Thromboembolism in the East Algerian Population.

Many genetic risk factors have been identified for causing venous thromboembolism (VTE). Most of them affect the function of natural anticoagulant pathways, particularly the protein C system, although recent studies suggest a role of components of the hematopoietic pathway in the etiology of venous thrombosis. In this case-control study, we aimed to determine the frequency of prothrombin G20210A and factor V Leiden (FVL) G1691A polymorphisms and protein C, protein S, and antithrombin III deficiencies in the East Algerian population and to investigate whether these genetic factors are associated with VTE. On the other hand, our study tends to evaluate the status of JAK2V617F and calreticulin (CALR) mutations among these cases. The participants consisted of 121 cases with VTE and 146 healthy controls. Polymorphisms of FVL G1691A and prothrombin G20210A were genotyped by polymerase chain reaction (PCR) restriction fragment length polymorphism. JAK2-V617F and calreticulin mutations were analyzed by quantitative PCR and PCR followed by capillary electrophoresis sequencing, respectively. Protein C, protein S, and antithrombin levels were determined and then hereditary deficiencies were identified. Of all cases and controls, none was a carrier of the antithrombin III deficiency, prothrombin gene G20210A, and CALR mutations. Only 1 case reported having a positive JAK2 mutation (mutant allele burden was 15%). The FVL mutation (GA/AA) was found in 14 (11.6%) cases and 2 (1.4%) controls and it was significantly different between both the groups ( P = .001). Deficiencies of protein S and protein C were detected in 17 (18.8%) cases. The univariate analysis resulted in a significant impact of FVL (odds ratio [OR] = 9.4, 95% confidence interval [CI] = 2.1-42.3; P = .003) and of protein S deficiency (OR = 16.9, 95% CI =2.1-132.8, P = .007) on the VTE status. Both factors stayed significant after adjustment for sex and age. The OR of the protein C deficiency was slightly elevated (OR = 6.4, 95% CI = 0.7-55.5), but it did not reach the level of statistical significance ( P = .091), and it was therefore not considered as a risk factor. In conclusion, coagulant factor V gene G1691A mutation and protein S deficiency constitute important genetic risk factors in patients with VTE in Eastern Algeria. The somatic mutation of JAK2 V617F and CALR mutations are less frequent causes of VTE, thus routine testing for these mutations is not recommended.

114 Prevalence of thrombophilias in patients with severe pre-eclampsia diagnosed before 34 weeks pregnancy

Background Preeclampsia is a condition of pregnancy characterized by high blood pressure associated with edema and/or proteinuria, with development from the 20th week of pregnancy. Its pathogenesis is multifactorial and the involvement of thrombophilias – conditions that occur with greater probability of thromboembolic events – in the pathophysiological mechanism of preeclampsia is controversial, especially in severe cases. Objective Identify the prevalence of thrombophilias in patients with severe preeclampsia diagnosed before 34 weeks of gestation. Methods Prevalence study, with pregnant women being followed in “Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo”, because of preeclampsy or other diseases, hospitalized from October 2009 to October 2014. Women diagnosed with preeclampsia were included if they had any of the following severity criteria: systolic blood pressure ⩾160 and/or diastolic ⩾110 mmHg confirmed on two measurements with an interval of at least two hours; proteinuria ⩾ 5 g/24 h; diuresis Results 239 patients were initially selected for the study, 99 patients did not investigate thrombophilia because they missed follow-up appointments after delivery and 5 were excluded, totalizing 135 patients. Thirty-five (25.9%) patients had positive laboratory markers for thrombophilias, the most common being antiphospholipid syndrome (7,4%, N = 10) and hyperhomocysteinemia (5,2%, N = 7). Six (4.4%) patients were heterozygous for the mutation in the prothrombin gene, six (4.4%) had protein S deficiency, four (3.0%) were heterozygous for factor V Leiden, one (0,7%) showed antithrombin deficiency and one (0.7%) had protein C deficiency. Association of thrombophilias was present in one (0.7%) patient (hyperhomocysteinemia + antithrombin deficiency). Conclusion Thrombophilias are present in a significant proportion of severe preeclampsia cases arising before 34 weeks of gestation.

Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review.

Distribution of hereditary thrombophilic gene mutations differs globally. Prothrombin gene mutation G20210A is a common prothrombotic single-nucleotide polymorphism. In this systematic review, we provide a comprehensive report of the prevalence of prothrombin G20210A across the globe. Databases [Pubmed, Web of Science, Embase] were interrogated from their inception through December 2015 for articles reporting prothrombin G20210A prevalence rates and ethnicity. Prevalence rates were organized by continent and ethnoracial ancestry. A total of 113 articles were included with a total 61 876 participants tested for prothrombin G20210A. Reported prevalence rates varied from 0 to 15.9% among ethnic groups, with higher rates seen in the thromboembolism affected cohort compared with the unaffected cohort. Carrier rate distribution is supported by known historical migration patterns of global populations. This review of prothrombin G20210A prevalence may guide resourceful screening for identification of hereditary thrombophilia in female populations of interest with hypercoagulable states.

Association Between the G20210A Polymorphism of Prothrombin Gene and Myocardial Infarction in Tunisian Population.

The prothrombin is the precursor of the serine protease thrombin, a key enzyme in homeostasis. Prothrombin G20210A polymorphism (rs1799963) was described as a moderate risk factor for venous thrombosis because this mutation is associated with prothrombin elevated levels which may lead to an imbalance between the procoagulant, anticoagulant, and fibrinolytic system. 20210A carriers have an increased risk of thrombosis. In this study, we proposed to determine the prevalence of 20210A prothrombin variant among Tunisian population, and to evaluate the potential relevance of this variant with myocardial infarction. This study included 1290 unrelated Tunisians (1007 male and 283 female) divided in two groups: Four hundred and eighty-seven MI patients (mean age: 52.64±8.98years) and 803 apparently healthy controls (mean age: 51±8.99). The prothrombin G20210A polymorphism was carried out by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analysis. The distribution of genotypes was in accordance with Hardy-Weinberg equilibrium (p>0.05). A significant difference in genotype distribution and allele frequency was observed between patients and controls. Male patients with MI had a frequency of 97% for GG genotype and 3% for GA+AA genotypes. The control group had a frequency of 99% for the GG genotype and 1% for the GA+AA genotypes which is significantly lower than the frequency found in patients (p=0.01). The same genotype frequencies were found in women (p=0.032). The MI patient group showed a significantly higher frequency of 20210A allele compared to controls 0.02 versus 0.01 [OR=3.60 (95% CI=1.29-10.53), p=0.005] in men and 0.015 versus 0.068 [OR=4.68 (95% CI=1.60-14.26), p=0.001] in women. Our work showed a significant but not independent association between the G20210A polymorphism of the prothrombin gene and MI in the Tunisian population.

The Association between Prothrombin Gene G20210A and Factor V Leiden Mutation in Women with Complications of Pregnancy in Baghdad Province

Factor V Leiden (FVL) (G1691A) and prothrombin gene (G20210A) mutations are the most common inherited forms of thrombophilia. The main objective of this study is to analyze the association between inherited thrombophilia FVL mutation and prothrombin G20210A mutation and recurrent pregnancy loss (RPL) among women suffering from complications of pregnancy. The study included 40 buccal swab samples collected from women at the reproductive age complications; abruption placenta 12.5%, dead fetal 37.5%, and recurrent spontaneous abortions (RSA) 50% in comparison with 30 women who had one or more normal pregnancies from Elwiyah Obstetric teaching hospital through the period from mid of September 2014 to the mid of March 2015. The median age of patients was 32 years (range: 19–42 years) while for the control group, it was 28 years (range: 17–41 years). Out of 40 women, 65% had one pregnancy loss and 35% for more than two previous pregnancy losses. According to the time of pregnancy losses, 22(55%) women had early pregnancy loss (EPL), and 18 (45%) women had Late Pregnancy Loss (LPL). For FVL mutation detection the restriction fragment length polymorphism (RFLP) was used. DNA fragment of interest was amplified by PCR and then subjected to digestion by MnlI specific restriction enzyme. For prothrombin G20210A mutation detection different PCR products were generated using a set of primers in A/A, G/G, A/G alleles. Out of the 70 samples tested for FVL mutation no homozygous FVL mutation was detected and Prothrombin gene mutation G20210A was totally absent among patient and control.

Association between in vitro fertilization outcomes and inherited thrombophilias: a meta-analysis.

The aim of this study was to determine whether in vitro fertilization (IVF) outcomes are associated with inherited thrombophilias. Several databases including PubMed, Embase, and Cochrane Library were retrieved up to 12 January 2016. The quality of the included studies was assessed by two authors. The associations of the following mutations in inherited thrombophilias and IVF outcomes were explored: factor V Leiden (FVL), prothrombin gene G20210A mutation (PGM), 5,10-methylentetrahydrofolate reductase (MTHFR) C677T, MTHFR (A1298C) and activated protein C resistance (APCR). The main outcome measures included CPR and implantation rate (IR). The relative risk (RR) and its 95% confidence interval (CI) were calculated for effect index. Heterogeneity test was evaluated by Chi-square based on Q statistic and I (2) statistics. A total of seven articles published between 2007 and 2015 with the ages of subjects between 30.9 and 36.2 were included. For subgroups analysis of CPR or IR, there were no significant differences in MTHFR (C377T), MTHFR (A1298C), FVL, PGM, and FVL/PGM mutation were found between the mutation group and control group (P > 0. 05). IVF outcomes are not associated with FVL, PGM, MTHFR (C677T), MTHFR (A1298C), and APCR mutation in inherited thrombophilias.

Predictors of Venous Thromboembolism in African-Americans

Venous thromboembolism (VTE) is more common in African-Americans (AAs) than in European Americans (EAs), an observation not explained by differences in acquired risk factors. While factor V Leiden and prothrombin gene mutation account for up to 60% of VTE heritability in EAs, these mutations are infrequent in AAs. To identify genetic risk factors for VTE …

Su1483 Des-g-carboxy Prothrombin (DCP) Is Produced by Overexpression of Prothrombin Gene in Hepatocellular Carcinoma

Su1483 Des-g-carboxy Prothrombin (DCP) Is Produced by Overexpression of Prothrombin Gene in Hepatocellular Carcinoma

Bilateral upper extremity severe ecchymosis in a patient on alirocumab, rivaroxaban, and clopidogrel therapy

The PCSK9 inhibitors, alirocumab and evolocumab, are a new class of powerful LDL cholesterol lowering agents which allow previously unattainable lowering of LDL cholesterol (LDLC). Once past the necessarily restrictive confines of placebo-controlled clinical trials, in current medical practice, some patients with concomitant thromboembolism and arterial disease may also be taking potent anticoagulants and/or anti-platelet agents in addition to PCSK9 inhibitors. There are currently no reports on drug interactions and no warnings when alirocumab or evolocumab are used in conjunction with anticoagulants and/or anti-platelet therapy. Here, we present a case of patient with exceptional LDLC lowering (LDLC < 4 mg/dl) on alirocumab 150 mg/ml every 2 weeks and concomitant anti-platelet (clopidogrel 75 mg/day) and anti-coagulation therapy (rivaroxaban 10 mg/day) because of recurrent non-cardiogenic amaurosis fugax, and transient ischemic attacks, and ischemic stroke associated with heterozygosity for the G20210A prothrombin gene mutation. On this regimen, the patient developed gradually spreading intensive skin ecchymosis and bleeding on both arms. This resolved after stopping alirocumab, clopidogrel, and rivaroxaban, and did not reappear when clopidogrel and rivaroxaban were restarted without alirocumab.

Impact of Prothrombotic Risk Factors in a Cohort of Egyptian Hemophilia A Patients.

Hemophilias are a group of related bleeding disorders that show an X-linked pattern of inheritance. The clinical phenotype of severe hemophilia may vary markedly among patients as a result of many factors, including genetic prothrombotic risk factors. Our objective was to study the incidence of the most common prothrombotic risk factors for additive effects among Egyptian patients with hemophilia A and their impact on clinical phenotype; annual bleeding frequency and severity of hemophilic arthropathy, as well as the effect of a single variation in these patients. This study was carried out in 100 patients with hemophilia A. Genotyping for factor V Leiden (FVL) G1691A, prothrombin G20210A, MTHFR C677T, and A1298C mutations was conducted using a real time-polymerase chain reaction (RT-PCR) assay. Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). Despite a lack of statistical significance when each gene was analysed separately, heterozygosity of prothrombin G20210A or FVL was always associated with either a mild or moderate, but never a severe, clinical presentation. The lowest bleeding frequency (less than once per month) was identified among patients with two heterozygous variants irrespective of the involved genes. In addition, the incidence of hemarthrosis was significantly higher among patients with a wild genotype of the prothrombin gene and FVL, and the average number of affected joints was significantly higher among patients with wild-type prothrombin and FVL genes than among heterozygous patients. These prothrombotic mutations have a cumulative effect in amelioration of the severity of bleeding in hemophiliacs. The most prominent effect is that of prothrombin G20210A and FVL, while MTHFR C677A and A1298C gene mutations are less conclusive.

Abstract 29: Common Thrombophilias are not Associated With Specific Perinatal Stroke Diseases

Background: Perinatal stroke causes cerebral palsy and lifelong disability. Specific diseases are definable, including arterial and venous ischemic injuries, but pathophysiological mechanisms are poorly understood. Thrombophilia has long been considered a potential contributor but population-based, controlled, disease-specific studies are limited. Hypothesis: Thrombophilia is uncommon in children with perinatal stroke. Methods: Subjects were recruited from the Alberta Perinatal Stroke Project, a population-based cohort with MRI-classified perinatal strokes: neonatal arterial ischemic stroke (NAIS), arterial presumed perinatal ischemic stroke (APPIS), and fetal periventricular venous infarction (PVI). Standardized thrombophilia evaluations were performed prospectively (2008-2015) after 12 months of age on stroke cases and matched controls. Measures included protein C and S, antithrombin III, factors VIII/IX/XI, fibrinogen, lipoprotein a, lupus anticoagulant, and antiphospholipid antibodies. Groups were compared (ANOVA, chi-square), corrected for multiple comparisons. Results: A total of 252 children were studied (58 NAIS, 48 APPIS, 69 PVI, 77 controls). Of 14 parameters, no differences were observed in 12 including all common thrombophilias. Prothrombin times were shorter in arterial strokes compared to controls (p&lt;0.001). Factor XI levels were higher in arterial and PVI strokes compared to controls (p=0.004). Rates of genetic thrombophilias including factor V Leiden, prothrombin gene, and MTHFR were low and comparable to population rates. Conclusion: Our prospective, population-based, controlled, disease-specific study suggests minimal association between perinatal stroke and thrombophilia. This does not exclude the possibility of disordered coagulation at the time of stroke but suggests testing in childhood is not indicated.

Association of thrombogenic genes polymorphisms with hepatocellular carcinoma in HCV Egyptian patients

The rate of development of fibrosis varies among HCV patients and affected by many variables. We aimed to investigate the association between mutations in Factor V, prothrombin gene and thrombospondin 1 polymorphisms with hepatic fibrosis progression rate and development of HCC in patients infected with HCV and if they are potential markers for early prediction of disease progression. A total of 280 HCV-infected patients (70 with mild fibrosis, 70 with advanced fibrosis, 70 cirrhotic patients and 70 HCC patients) and 100 healthy controls were included. Factor V Leiden G1691A, prothrombin G20210A and thrombospondin 1 mutations were analyzed by restriction fragment length polymorphism. We observed that there were no significant differences between Factor V Leiden (G1691A) or TPS-1 (A2210G) polymorphisms in the four patient subgroups and control group. In HCC patients, the frequencies of GA genotype were significantly increased compared with control subject. HCV patients carrying GA genotype were more likely to develop hepatocellular carcinoma (OR=5.4, 95% CI=1.09–27.05; P=0.026).We concluded that the risk of HCC was increased 5-fold in subjects carrying GA genotype of prothrombin G20210A gene. However, there was no evidence for a significant association between thrombogenic genes polymorphisms and progression of fibrosis in HCV Egyptian patients.

Mutations in the Gene for Factor V Leiden and G20210A Prothrombin Polymorphism in Women With Recurrent Spontaneous Abortion: A Retrospective Study in a Brazilian Population

Background: Pregnancy is sufficiently considered an important risk factor for thromboembolic events. We aimed to determine the prevalence of factor V Leiden (FVL) and prothrombin gene 20210A mutations in patients with miscarriages and to correlate these results with normal and abnormal karyotypes. Methods: A retrospective study was carried out in 247 women with a history of miscarriages. These samples were karyotyped, and the DNA was extracted (chorionic villi) and genotyped for FVL and prothrombin gene polymorphism. Results: Polymorphism frequency was compared among different groups. FLV showed significant levels in the normal cytogenetic groups in two comparisons: normal abortion (NA) versus abnormal abortion (AA) (P = 0.08) and normal recurrent abortion (NRA) versus AA (P = 0.048). The presence or absence of at least one polymorphism was evaluated. The frequency of G20210A prothrombin gene polymorphism was higher in NA than in AA: NA versus AA (P = 0.014), NRA versus AA (P = 0.018) and AA versus NRA (P = 0.01). Conclusions: The FVL showed probable importance in the genesis of abortions due to its greater frequency of normal karyotype miscarriage. Once presence of both polymorphisms was significantly higher in normal karyotype miscarriage than in abnormal, we can infer that the alterations are associated with the pathophysiology of abortions. J Clin Gynecol Obstet. 2016;5(3):85-91 doi: http://dx.doi.org/10.14740/jcgo412e

Livedoid vasculopathy: A review of pathogenesis and principles of management.

Livedoid vasculopathy is a rare cutaneous disease manifesting as recurrent ulcers on the lower extremities. The ulceration results in atrophic, porcelain white scars termed as atrophie blanche. The pathogenesis is yet to be understood with the main mechanism being hypercoagulability and inflammation playing a secondary role. The important procoagulant factors include protein C and S deficiency, factor V Leiden mutation, antithrombin III deficiency, prothrombin gene mutation and hyperhomocysteinemia. Histopathology of livedoid vasculopathy is characterized by intraluminal thrombosis, proliferation of the endothelium and segmental hyalinization of dermal vessels. The treatment is multipronged with anti-thrombotic measures such as anti-platelet drugs, systemic anticoagulants and fibrinolytic therapy taking precedence over anti-inflammatory agents. Colchicine, hydroxychloroquine, vasodilators, intravenous immunoglobulin, folic acid, immunosuppressive therapy and supportive measures are also of some benefit. A multidisciplinary approach would go a long way in the management of these patients resulting in relief from pain and physical as well as psychological scarring.

Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage

Introduction: Three or more pregnancy losses before 20 weeks of gestation are usually defined as recurrent miscarriage. Parental chromosomal translocations, thrombophilic gene polymorphisms, autoimmune factors, uterine, endocrine factors associated with recurrent miscarrige (RM). Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations responsible for hereditary thrombophilia and has been included to keep a very common practice of RM pathogenesis. This study aimed to determine the incidence of these factors believed to be the effects of RM. Materials and methods: All patients were took a full genetic analysis; full genetic examination and pedigree drawing was done to exclude known nonchromosomal causes of the anomaly. Cytogenetic analysis was done for 635 patients. The study included peripheral lymphocyte culture by a standard method using Leishmann-banding technique, centromerebanding (C-banding), and nucleolar organizing region staining was done when needed. Pyrosequencing was used to genotype the 392 individual. Results: Male/female in patients with an inherited thrombophilia tested four types of changes, including; MTHFR C677T/1298, FV Leiden G1691A and prothrombin G20210A. Among them, 152 men and woman did not carry any mutation.

Multimodal Venous Thromboembolism Prophylaxis with Preoperative Thrombophilia Screening Examinations for Total Hip and Knee Arthroplasties

Objective: To evaluate the efficacy of a multimodal venous thromboembolism (VTE) prophylaxis including preoperative thrombophilia screening for total hip and knee arthroplasties (THAs and TKAs) and to consider the possibility of utilizing thrombophilic blood markers for preoperative identification of patients with high risk for VTE..Method: The physical evaluation, involving the medical history of previous VTE, recent malignancy, and preoperative prolonged immobility status, and the existence of deep venous thrombosis (DVT) detected by duplex venous ultrasonography were assessed. Then, the patients with high risk of VTE were offered an inferior vena cava (IVC) filter preoperatively. The laboratory examination of complete blood count and standard biochemistry with factor VIII, activated protein C resistance (APCR), and prothrombin gene mutation were also measured. The operations were performed under regional anesthesia in most cases, and with venous foot pump (VFP), and early mobilization and aspirin (325 mg) daily were applied postoperatively.Results: IVC filters were placed in 6, and acute DVT was detected in 5 of the total 99 cases. However, there was no critical bleeding or fatal VTE. In the blood markers, prothrombin mutation and factor VIII seemed to have a relation to DVT.Conclusion: The efficacy of our multimodal protocol was confirmed. Further research is necessary to apply factor VIII and prothrombin gene mutation as thrombophilic blood markers.

Risk Factors for Portal Vein Thrombosis in Patients With Cirrhosis Awaiting Liver Transplantation in Shiraz, Iran.

Background:Portal vein thrombosis is a fairly common and potentially life-threatening complication in patients with liver cirrhosis. The risk factors for portal vein thrombosis in these patients are still not fully understood.Objectives:This study aimed to investigate the associations between various risk factors in cirrhotic patients and the development of portal vein thrombosis.Patients and Methods:In this case-control study performed at the Shiraz organ transplantation center, Iran, we studied 219 patients (> 18 years old) with liver cirrhosis, who were awaiting liver transplants in our unit, from November 2010 to May 2011. The patients were evaluated by history, physical examination, and laboratory tests, including factor V Leiden, prothrombin gene mutation, Janus Kinase 2 (JAK2) mutation, and serum levels of protein C, protein S, antithrombin III, homocysteine, factor VIII, and anticardiolipin antibodies.Results:There was no statistically significant difference in the assessed hypercoagulable states between patients with or without portal vein thrombosis. A history of previous variceal bleeding with subsequent endoscopic treatment in patients with portal vein thrombosis was significantly higher than in those without it (P = 0.013, OR: 2.526, 95% CI: 1.200 - 5.317).Conclusions:In our population of cirrhotic patients, treatment of variceal bleeding predisposed the patients to portal vein thrombosis, but hypercoagulable disorders by themselves were not associated with portal vein thrombosis.

Açıklanamayan infertilite etiyolojisinde olası risk faktörü olarak herediter trombofilinin yeri

Objective: Unexplained infertility represents one of the most common diagnoses among infertile couples. In this study we investigated the impact of inherited thrombophilia as a risk factor in unexplained infertility. Material and Methods: In this study, genetic mutations of prothrombin gene G20210A, Factor V Leiden and methylene tetrahydrofolate reductase (MTHFR) C677T, as well as D-Dimer levels were investigated in 25 women diagnosed with unexplained infertility and 25 healthy fertile women. Results: In the present study, among unexplained infertile women and the control group, MTHFR C677T, prothrombin G20210A mutations and D-Dimer levels did not have a statistically significant difference (p>0.05). Factor V Leiden mutation was not observed in either group. Conclusion: Currently, there still are unclear points in the etiopathogenesis of unexplained infertility. As a result of our findings, although we did not observe a significant association between hereditary thrombophilia and unexplained infertility, the presence of a number of studies with contradictory findings demands future research with large sample sizes to clarify this issue.