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Aim: To investigate the effect of factor V Leiden mutation on neonatal and maternal morbidity and mortality in hypertensive pregnant groups. Materials and Methods: The study was carried out as a prospective case-controlled study with 108 pregnant women who applied to the Gynecology and Obstetrics Outpatient Clinic of Karadeniz Technical University, Faculty of Medicine within 2 years. Patients were divided into four groups: mild preeclampsia (n=20), severe preeclampsia (n=54), chronic hypertension (n=14), and normal pregnant women as a control group (n=20). Since superimposed preeclampsia (n=6), eclampsia (n=23), and HELLP syndrome (n=27) are variants of severe preeclampsia, these patients were included in the severe preeclampsia group. The clinical study aimed at investigating whether FVL mutation has any significant correlation with neonatal morbidity (IUGR, 1st and 5th minute < 7 Apgar score), intrauterine fetal death, neonatal mortality, maternal morbidity (ablatio placenta, deep vein thrombosis, intracranial hemorrhage, cesarean section rate) and mortality risk in hypertensive pregnant women. Results: Factor V Leiden mutation was most common in the severe preeclampsia group. Maternal and neonatal outcomes of pregnant women with and without FVL mutations were similar in all study groups (p > 0.05). Conclusion: Although FVL mutation was more common than usual in severe preeclamptic pregnant women, it did not affect maternal and neonatal outcomes. Prospective studies with larger patient populations investigating the effects of FVL mutation in preeclampsia are needed. [ABSTRACT FROM AUTHOR]

Abstract Background In this case series, a perioperative anticoagulation protocol for microvascular head and neck surgery in patients with thrombophilia is presented. Microvascular free-flap surgery is a standard procedure in head and neck surgery with high success rates. Nevertheless, flap loss—which is most often caused by thrombosis—can occur and has far-reaching consequences, such as functional impairment, prolonged hospitalization, and increased costs. The risk of flap loss owing to thrombosis is significantly increased in patients with thrombophilia. Therefore, perioperative anticoagulation is mandatory. To date, no perioperative anticoagulation protocol exists for these high-risk patients. Case presentation We present three exemplary male Caucasian patients aged 53–57 years with free flap loss owing to an underlying, hidden thrombophilia. Conclusion We present a modified anticoagulation protocol for microvascular surgery in these high-risk patients, enabling successful microsurgical reconstruction.

Background: In this case series, a perioperative anticoagulation protocol for microvascular head and neck surgery in patients with thrombophilia is presented. Microvascular free-flap surgery is a standard procedure in head and neck surgery with high success rates. Nevertheless, flap loss—which is most often caused by thrombosis—can occur and has far-reaching consequences, such as functional impairment, prolonged hospitalization, and increased costs. The risk of flap loss owing to thrombosis is significantly increased in patients with thrombophilia. Therefore, perioperative anticoagulation is mandatory. To date, no perioperative anticoagulation protocol exists for these high-risk patients. Case presentation: We present three exemplary male Caucasian patients aged 53–57 years with free flap loss owing to an underlying, hidden thrombophilia. Conclusion: We present a modified anticoagulation protocol for microvascular surgery in these high-risk patients, enabling successful microsurgical reconstruction. [ABSTRACT FROM AUTHOR]

Objective: To examine the perioperative impact of factor V Leiden mutation on thromboembolic events' risk in radical prostatectomy (RP) patients. With an incidence of about 5%, factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia. The increased risk of thromboembolic events is three- to seven-fold in heterozygous and to 80-fold in homozygous patients. Methods: Within our prospectively collected database, we analysed 33 006 prostate cancer patients treated with RP between December 2001 and December 2020. Of those, patients with factor V Leiden mutation were identified. All patients received individualised recommendation of haemostaseologists for perioperative anticoagulation. Thromboembolic complications (deep vein thrombosis and pulmonary embolism) were assessed during hospital stay, as well as according to patient reported outcomes within the first 3 months after RP. Results: Overall, 85 (0.3%) patients with known factor V Leiden mutation were identified. Median age was 65 (interquartile range: 61–68) years. There was at least one thrombosis in 53 (62.4%) patients and 31 (36.5%) patients had at least one embolic event in their medical history before RP. Within all 85 patients with factor V Leiden mutation, we experienced no thromboembolic complications within the first 3 months after surgery. Conclusion: In our cohort of patients with factor V Leiden mutation, no thromboembolic events were observed after RP with an individualised perioperative coagulation management concept. This may reassure patients with this hereditary condition who are counselled for RP.

To assess the frequency of multiple thrombophilia-associated mutations and polymorphisms in a selected population of high-risk pregnancies.

We present a case of a 16-year-old boy with an initial presentation of Henoch-Schonlein purpura and complications such as phlebothrombosis of the right leg, thrombosis of a.dorsalis pedis on the left, a large thrombus in the right ventricle, pulmonary thromboembolism and proven heterozygous carrier of the genetic mutation Factor V Leiden R506Q. A brief literature review was made, looking at the relationship between the pathogenetic mechanisms of the diseases and the clinical experience of European medical centers, with the aim of searching for an individual approach in therapeutic behavior. [ABSTRACT FROM AUTHOR]

Infection with SARS-CoV-2 has been shown to predispose to thromboembolic events. The risk of such thromboses further increases in those with underlying inherited or acquired prothrombotic states. The authors present a 30-yearold lady who developed acute abdominal pain, three days after recovery from a mild COVID-19 infection. She was also using oral contraceptive pills. Laboratory investigations revealed elevated inflammatory markers, and a contrastenhanced abdominal CT scan demonstrated portal vein thrombosis (PVT). Due to the unusual site of thrombosis, a thrombophilia screen was performed, which detected a heterozygous Factor V Leiden mutation (FVL). Thus, her PVT was attributed three simultaneous risk factors, namely COVID-19 infection, OCP use and FVL mutation. She was initiated on anti-coagulation, with which she improved significantly. In patients presenting with thromboses at uncommon sites, investigation for evidence of recent Covid-19 infection and screening for inherited and acquired thrombophilia should be considered, while discontinuing any offending medications. [ABSTRACT FROM AUTHOR]

Introduction: Patients with an inherent hypercoagulable state are at a higher risk of venous thromboembolism (VTE) following total joint arthroplasty (TJA). Further administration of tranexamic acid (TXA) during TJA may increase the risk of VTE in these high-risk patients. There is no study that specifically analyzes the safety and efficacy of TXA during TJA in patients with factor V Leiden (FVL) mutation; therefore, the purpose of this study was to evaluate the safety and efficacy of TXA use on the risk of VTE and bleeding in patients carrying FVL mutation. Materials and methods: A total of 42 patients with FVL mutation (22 hips, 20 knees) and 40 control patients (20 hips, 20 knees) who underwent TJA were retrospectively reviewed. All patients received 1 g TXA intravenously 15 min before the skin incision and 2 g of TXA was administered locally at the surgical site as a periarticular injection. Pharmacological thromboprophylaxis (low-molecular-weight heparin) was administered to all patients. Estimated blood loss and in-hospital thromboembolic complications were compared between the groups. Results: In both total knee arthroplasty (TKA) and total hip arthroplasty (THA) patients, there was no significant difference in the amount of estimated blood loss among the groups (p = 0.980, and p = 0963, respectively). None of the patients in the THA group received a blood transfusion. The transfusion rate was similar in the TKA group (p = 0.756, one patient in each group). No VTE, myocardial infarction, or any other complications related to TXA use were observed in any of the patients. Conclusions: The combined local and systemic administration of TXA could be safely used in patients with heterozygous FVL mutation receiving pharmacological thromboprophylaxis during TJA without increasing the risk of VTE. [ABSTRACT FROM AUTHOR]

Background: Eales disease is a clinical syndrome affecting the mid-peripheral retina with an idiopathic occlusive vasculitis and possible subsequent retinal neovascularization. The disease can develop into visually threatening complications. Case Presentation: We report the case of a 40-year-old Caucasian male with a history of cocaine abuse who presented with blurred vision in the left eye (LE). Fundus examination showed vitreous hemorrhages, peripheral sheathing of venous blood vessels, areas of retinal neovascularization in the LE, and peripheral occlusive phlebitis in the right eye. The full serologic panel was negative except for the heterozygous mutation of factor V Leiden. Clinical and biochemical parameters suggested a diagnosis of Eales disease. Therapy with dexamethasone, 1 mg per kg per day, tapered down slowly over 4 months, and peripheral laser photocoagulation allowed a regression of clinical signs and symptoms. Conclusion: This case shows an uncommon presentation of Eales disease associated with cocaine abuse. Both cocaine abuse and a thrombophilic pattern, as cofactors, might have sensitized the retinal microcirculation on the pathogenetic route to this retinal pathology. Furthermore, in view of this hypothesis, a thorough ocular and general medical history investigating drug abuse and coagulation disorders is recommended for ophthalmologists in such cases. [ABSTRACT FROM AUTHOR]

Factor V Leiden, an autosomal dominant gene mutation that leads to increase risk of forming thrombophilia. Amputation in patients with Factor V leiden mutation is known but none describe quad-limb amputation in this setting. We present a case of a quad-limb amputee due to sepsis with factor V Leiden mutation and how he was rehabilitated.

Abstract Background Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation. Case presentation A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE. Conclusion Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient’s risk of recurrent, sight-threatening and life-threatening thrombotic events.

The article presents a literature review on the study of the relationship of FGA, FGB, F2, F5, PAI, ITGA2 gene polymorphisms with the development of pulmonary embolism (PE). We concluded that genetic factors in the development of PE are to a greater extent mutations in the F2, F5, PAI, ITGA2 genes. There is a positive correlation between the presence of combined genetic mutations and the development of PE. The study of allelic polymorphism of hemostasis genes makes it possible to predict coagulation system disorders, including PE.

Background: Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation.Case Presentation: A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE.Conclusion: Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient's risk of recurrent, sight-threatening and life-threatening thrombotic events. [ABSTRACT FROM AUTHOR]

Background: Thrombophilia is a hypercoagulable state characterized by increased venous thrombosis. The most common cause of heritable thrombophilia is Factor V Leiden (FVR506Q) homozygous state, with a relative risk of 10–80 times as compared to normal individuals and Lupus anticoagulant is the most common cause of acquired thrombophilia. The main objective of this study is to compare the sensitivity of activated partial thromboplastin time (APTT) vs dilute Russell viper venom test (DRVVT) based APCR assays with predilution in Factor V-deficient plasma for diagnosis of Factor V Leiden mutation. Materials And Methods: The coagulometer used for APCR test was Sysmex CS-5100. APTT reagent used is Pathrombin SL supplied by Siemens. All data were expressed as mean ± SD. Statistical analysis was done using unpaired students t-test and a P value

Background: Eales disease is a clinical syndrome affecting the mid-peripheral retina with an idiopathic occlusive vasculitis and possible subsequent retinal neovascularization. The disease can develop into visually threatening complications. Case Presentation: We report the case of a 40-year-old Caucasian male with a history of cocaine abuse who presented with blurred vision in the left eye (LE). Fundus examination showed vitreous hemorrhages, peripheral sheathing of venous blood vessels, areas of retinal neovascularization in the LE, and peripheral occlusive phlebitis in the right eye. The full serologic panel was negative except for the heterozygous mutation of factor V Leiden. Clinical and biochemical parameters suggested a diagnosis of Eales disease. Therapy with dexamethasone, 1 mg per kg per day, tapered down slowly over 4 months, and peripheral laser photocoagulation allowed a regression of clinical signs and symptoms. Conclusion: This case shows an uncommon presentation of Eales disease associated with cocaine abuse. Both cocaine abuse and a thrombophilic pattern, as cofactors, might have sensitized the retinal microcirculation on the pathogenetic route to this retinal pathology. Furthermore, in view of this hypothesis, a thorough ocular and general medical history investigating drug abuse and coagulation disorders is recommended for ophthalmologists in such cases.

Factor V Leiden mutation is a rare anomaly, which is prone to increase the thrombotic incidents in those who have the abnormality compared to the normal population. Herein, we report a patient with Factor V Leiden mutation, which was detected post-operatively during evaluation of ecchymosis and ischemia on the glans penis and penile skin following skin degloving and circumcision. Luckily, glans ischemia responded hyperbaric oxygen treatment and intravenous pentoxyphylline therapy. Factor V Leiden mutation is a "Hidden Danger," which the surgeons should keep in mind in cases of post-operative venous thrombosis leading to ecchymosis and superficial or deep tissue loss. [ABSTRACT FROM AUTHOR]

The aim of the study was to determine the efficacy of heparin prophylaxis in preventing pregnancy complications in patients with the manifested laboratory phenotype – resistance to activated protein C (APC-resistance with NR ≤ 0.49) Factor V Leiden mutation (GA genotype). Materials and methods. A single-center, randomized, controlled trial of 141 pregnant women – carriers of the FVL(1691)GA mutation with APC-resistance ≤ 0.49 was determined at a gestation age of 7-8 weeks. Of these, 70 patients were included in the main group (mean age 30.2 ± 4.7 years); after the confirmation of the APC-resistance at 7-8 weeks of gestation, these women received a 14 day low-molecular-weight heparin (LMWH) course at elevated prophylactic doses. The comparison group (71 pregnant women of 30.3 ± 3.9 years old) received no LMWH. Results. The heparin prophylaxis (started from 7-8 weeks of gestation) at elevated doses in carriers of the FVL(1691)GA mutation with pronounced APC-resistance reduced the absolute risk (ARR) of pre-eclampsia by 29.5% (ARR: 29.5; p = 0.0003; NTT: 3.4; 95% Cl: 2.356.12), the risk of fetal growth retardation by 23.8% (ARR: 23.8; p = 0.0016; NTT: 4.2; 95% Cl: 2.8-8.7) and the risk of induced premature birth by 12.6% (ARR: 12.6; p = 0.0242; NTT: 5.8; 95% Cl: 3.7-14.1). Conclusion. The administration of LMWH at prophylactic doses for 14 days is indicated in patients with a manifested subclinical (laboratory) phenotype (APC-resistance with NR ≤ 0.49) of the FVL(1691)GA mutation starting from the gestation period of 7-8 weeks. If necessary (with a value of NR ≤ 0.49), it is advisable to repeat the courses of heparin prophylaxis at 18-19 and 27-28 weeks of pregnancy.

INTRODUCTION: Ischemic stroke remains an important public health problem in all over world. It is wellknown that, some type of genetic mutations such as factor V Leiden and prothrombin G20210A contribute to the risk of ischemic venous stroke. However, the role of those genetic mutations in the risk of arteriel stroke is still controversial. The aim of this study is to investigate the possible association between the genetic mutations such as factor V Leiden and prothrombin G20210A and the risk of arterial ischemic stroke. METHODS: Sixty-three patient with ischemic arterial stroke and 25 age and sex matched controls were included in the study. RESULTS: Prothrombin G20210A mutation, factor V Leiden mutation, hypertention, hyperlipidemia and hyperhomocysteinemia have been found significantly more frequent in patients' group compared to the controls. With the multivariate analysis prothrombin G20210 mutation was found as an independent risk factor for ischemic arterial stroke. Factor V Leiden mutation was not an independent risk factor although it was seen more frequent in the ischemic arteriel stroke group. DISCUSSION AND CONCLUSION: Genetic mutations such as factor V Leiden and especially prothrombin G20210A should be considered as genetic risk factors for stroke. Exploring those mutations in the arteriel stroke cases and the risky groups for stroke might be important to assess risk and manage the disease.

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features.

Objective: The aim of this study was to compare the effects of low molecular weight heparin (LMWH), LMWH plus low dose aspirin, or low dose aspirin only on pregnancy outcomes in recurrent pregnancy loss (RPL) patients with factor V Leiden mutation (FVLM). Materials and methods: A total of 2764 RPL patients were evaluated in for the etiology of RPL. Mutations in factor V Leiden homozygous and heterozygous were determined. Subsequently, 196 of these patients were diagnosed with FVLM and included in the study; of these 174 completed the study. At the sixth week of gestation of subsequent pregnancy participants were randomly distributed into three groups. Group A (n = 61) was composed of patients with an oral dose of 100 mg aspirin daily, Group B (n = 59) consisted of patients using 40 mg enoxaparin and 100 mg orally aspirin daily, and Group C (n = 54) included patients using 40 mg enoxaparin daily during pregnancy. Results: Among the 174 patients who completed the study, the live birth and miscarriage rates were similar for the three groups (p =.843 and p =.694, respectively). There was no significant difference among the groups in rates of eclampsia, placental abruption, intrauterine fetal growth restriction and gestational diabetes mellitus. The number of preeclamptic patients was significantly higher in Group A than Groups B and C. The levels of preterm birth was significantly higher in Group A than Groups B and C. Conclusion: Using low dose aspirin, LMWH plus aspirin, or LMWH alone yielded comparable live birth rates in RPL patients with FVLM. However, LMWH decreased the risk of preeclampsia in this group of patients. LMWH might therefore have a preventive role regarding preeclampsia. [ABSTRACT FROM AUTHOR]

Objective: To examine the perioperative impact of factor V Leiden mutation on thromboembolic events' risk in radical prostatectomy (RP) patients. With an incidence of about 5%, factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia. The increased risk of thromboembolic events is three- to seven-fold in heterozygous and to 80-fold in homozygous patients., Methods: Within our prospectively collected database, we analysed 33 006 prostate cancer patients treated with RP between December 2001 and December 2020. Of those, patients with factor V Leiden mutation were identified. All patients received individualised recommendation of haemostaseologists for perioperative anticoagulation. Thromboembolic complications (deep vein thrombosis and pulmonary embolism) were assessed during hospital stay, as well as according to patient reported outcomes within the first 3 months after RP., Results: Overall, 85 (0.3%) patients with known factor V Leiden mutation were identified. Median age was 65 (interquartile range: 61-68) years. There was at least one thrombosis in 53 (62.4%) patients and 31 (36.5%) patients had at least one embolic event in their medical history before RP. Within all 85 patients with factor V Leiden mutation, we experienced no thromboembolic complications within the first 3 months after surgery., Conclusion: In our cohort of patients with factor V Leiden mutation, no thromboembolic events were observed after RP with an individualised perioperative coagulation management concept. This may reassure patients with this hereditary condition who are counselled for RP., Competing Interests: The authors declare no conflict of interest., (© 2024 Editorial Office of Asian Journal of Urology. Production and hosting by Elsevier B.V.)

Thrombophilia in venous thromboembolism (VTE) is multifactorial. Von Willebrand factor (vWF) plays a major role in primary hemostasis. While elevated vWF levels are well documented in VTE, findings related to its cleaving protease (ADAMTS-13) are contradicting. The aim of this study was to determine vWF, ADAMTS-13, and the multifactorial Thrombospondin-1 (TSP-1) protein levels in patients after 3-6 months following an unprovoked VTE episode. We also explored a possible association with factor V Leiden (FVL) mutation. vWF, ADAMTS-13 and TSP-1 were analyzed using ELISA kits in 60 VTE patients and 60 controls. Patients had higher levels of vWF antigen ( P  = .021), vWF collagen-binding activity ( P  = .008), and TSP-1 protein ( P  < .001) compared to controls. ADAMTS-13 antigen was lower in patients ( P  = .046) compared to controls but ADAMTS-13 activity was comparable between the two groups ( P  = .172). TSP-1 showed positive correlation with vWF antigen (rho = 0.303, P  = .021) and negative correlation with ADAMTS-13 activity (rho = -0.244, P  = .033) and ADAMTS-13 activity/vWF antigen ratio (rho = -0.348, P  = .007). A significant association was found between the presence of FVL mutation and VTE (odds ratio (OR): 9.672 (95% confidence interval (CI) 2.074-45.091- P  = .004), but no association was found between the mutation and the studied proteins ( P  > .05). There appears to be an imbalance between vWF and ADAMTS-13 in VTE patients even after 3-6 months following the onset of VTE. We report that the odds of developing VTE in carriers of FVL mutation are 9.672 times those without the mutation, but the presence of this mutation is not associated with the studied proteins., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: The aim of this study was to compare the effects of low molecular weight heparin (LMWH), LMWH plus low dose aspirin, or low dose aspirin only on pregnancy outcomes in recurrent pregnancy loss (RPL) patients with factor V Leiden mutation (FVLM).Materials and methods: A total of 2764 RPL patients were evaluated in for the etiology of RPL. Mutations in factor V Leiden homozygous and heterozygous were determined. Subsequently, 196 of these patients were diagnosed with FVLM and included in the study; of these 174 completed the study. At the sixth week of gestation of subsequent pregnancy participants were randomly distributed into three groups. Group A (n = 61) was composed of patients with an oral dose of 100 mg aspirin daily, Group B (n = 59) consisted of patients using 40 mg enoxaparin and 100 mg orally aspirin daily, and Group C (n = 54) included patients using 40 mg enoxaparin daily during pregnancy.Results: Among the 174 patients who completed the study, the live birth and miscarriage rates were similar for the three groups (p = .843 and p = .694, respectively). There was no significant difference among the groups in rates of eclampsia, placental abruption, intrauterine fetal growth restriction and gestational diabetes mellitus. The number of preeclamptic patients was significantly higher in Group A than Groups B and C. The levels of preterm birth was significantly higher in Group A than Groups B and C.Conclusion: Using low dose aspirin, LMWH plus aspirin, or LMWH alone yielded comparable live birth rates in RPL patients with FVLM. However, LMWH decreased the risk of preeclampsia in this group of patients. LMWH might therefore have a preventive role regarding preeclampsia. [ABSTRACT FROM AUTHOR]

The development of a low-cost and disposable biosensing technologies has received a great interest of healthcare for the sensitive and reliable detection of single nucleotide mutation related to single nucleotide polymorphisms (SNPs). In the present study, an impedimetric biosensing platform based on zip nucleic acids (ZNA) was developed for the sensitive detection of Factor V Leiden (FV Leiden) mutation. After optimization of experimental parameters, the sequence selective hybridization between ZNA probe and target related to FV Leiden mutation was evaluated via electrochemical impedance spectroscopy technique (EIS) by measuring changes at the charge transfer resistance, R ct. Sensitive and selective impedimetric analysis was performed using carbon nanofiber (CNF) modified screen printed electrodes (SPE) and multi-channel screen printed array of electrodes (MULTIx8 CNF-SPE) resulting in a relatively shorter time in comparison to conventional methods. The selectivity of ZNA probe to mutation-free DNA sequences was also investigated. The applicability of single-use ZNA biosensor was also tested in synthetic PCR samples containing a single base mutation. Image 1 • ZNA probe modified electrode was developed for impedimetric detection of single nucleotide mutation contrast to DNA probe. • ZNA biosensor was also developed in combination with multi-channel array system. • Impedimetric detection of single nucleotide mutation related to 'FV Leiden' was performed. • The selectivity of ZNA probe to DNA sequences with different single mutations was tested. • The applicability of ZNA biosensor was explored to detect a single base mutation in the synthetic PCR samples. [ABSTRACT FROM AUTHOR]

It is unknown whether the risk factor profile for mesenteric venous thrombosis (MVT) is different from systemic venous thromboembolism (VTE). The aim of the present population-based study was to compare acquired and inherited risk factors in MVT versus VTE. Identification of all MVT patients at Skåne University Hospital between 2000 and 2015 was performed in patient records and AuriculA (Swedish anticoagulation registry). VTE patients were retrieved from the Malmö Thrombophilia Study (MATS), including 1465 consecutive unselected VTE patients between 1998 and 2008. Patients with MVT (n = 120) were younger (p < 0.001), had higher glomerular filtration rate (p < 0.001), lower smoking rate (p < 0.001), and had less often undergone recent surgery (p = 0.025). The prevalence of solid cancer (19.2% in MVT versus 12.1% in VTE; p = 0.026) and intra-abdominal cancer (16.7% versus 2.3%; p < 0.001) were higher in MVT. The prevalence of factor V Leiden mutation without presence of cancer was lower in MVT compared to VTE (26.6% versus 38.9%; p = 0.031). Thirty-day mortality was higher in the MVT group (9.2% versus 0.6%; p < 0.001), but did not differ at long-term follow-up according to Kaplan–Meier analysis (p = 0.73). Patients with MVT have a higher prevalence of cancer and lower prevalence of factor V Leiden mutation than those with systemic VTE. Intra-abdominal cancer should be excluded in MVT patients, and the high prevalence of factor V Leiden mutation in patients without cancer in both groups suggests that screening for thrombophilia in patients without cancer should be considered in this population for both groups. [ABSTRACT FROM AUTHOR]

Factor V Leiden (FVL) mutation is the most common genetic risk factor for venous thromboembolism. In families with a history of thrombosis, FVL can be present in 18%. Thrombin generation test is commonly used as an evaluation tool of thrombotic risk. The objective of this study was to evaluate the thrombogenic potential of FVL in asymptomatic carriers and in patients with personal or familial history of thrombosis. This was a retrospective single center study including 160 patients. Among them, 43 had personal history of thrombosis and 117 had familial history of thrombosis. Thrombin generation (TG) was realized in frozen platelet poor plasma with 1 pM of tissue factor and 4 µM of phospholipid. FVL mutation was associated with a global increase of TG. No difference was observed between patients with provoked thrombosis and patients with first-degree familial history of thrombosis (endogenous thrombin potential (ETP): 1501.0 ± 316.4 nM min and thrombin peak: 253.4 ± 71.5 nM vs. 1520.4 ± 283.8 nM min and 268.6 ± 68.0 nM). An increase of TG was observed in patients with unprovoked thrombosis (n = 23) and in patients with provoked thrombosis (n = 20) (ETP: 1819.5 ± 319.8 nM min and peak: 332.3 ± 55.8 nM). In the unprovoked thrombosis group, patients with a pulmonary embolism had a higher ETP than patients with deep vein thrombosis (DVT) (2036 ± 343 nM min vs. 1707 ± 261 nM min). With a predictive score formula (s = 0.1315 × Age + 0.0105 × ETP) with a threshold of 22.1 as risk to develop an unprovoked thrombosis among patients with second-degree familial history. The results of our analysis suggest that measurement of thrombin generation in patients with FVL mutation may identify subjects with an increased risk of unprovoked thrombosis. Further studies are needed to examine the usefulness of predicting thrombotic presentation in asymptomatic carriers. [ABSTRACT FROM AUTHOR]

Abstract Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation among people. Development of reliable methods for the detection of SNP is crucial in aspects of molecular diagnosis and personalized medicine. In our study, a genomagnetic assay in combination with zip nucleic acid (ZNA) for electrochemical detection of SNP related to Factor V Leiden mutation. For the first time in the literature, a new generation nucleic acid; ZNA was applied herein for electrochemical monitoring of nucleic acid hybridization. Streptavidin coated magnetic beads (MBs) were used for preparation of samples containing ZNA-DNA hybrid and accordingly, the guanine signal was measured as a response of hybridization related to Factor V Leiden mutation by carbon nanofibers (CNF) modified screen printed electrodes (SPE) and multi-channel screen printed array of electrodes (CNF-MULTI SPEx8). The detection limit (DL) was found to be 3.79 μg/mL (376 nM) and, 11.63 μg/mL (1.624 μM), respectively by CNF-SPE and CNF-MULTI SPEx8. The selectivity of ZNA probe to mutation-free DNA sequences was also investigated in contrast to DNA probe. The applicability of ZNA based magnetic beads assay to sequence selective hybridization related to Factor V Leiden was also tested in synthetic PCR samples. Highlights • Genomagnetic assay in combination with zip nucleic acid (ZNA) was developed for electrochemical detection of SNP related to Factor V Leiden mutation. • Magnetic beads were used for preparation of samples containing ZNA-DNA hybrid. • The voltammetric detection of single nucleotide mutation 'Factor V Leiden' was performed by using single-use multi-channel array of electrodes. • The applicability of ZNA based assay in comparison to DNA based one was shown using synthetic PCR samples. [ABSTRACT FROM AUTHOR]

Thromboembolism remains a common complication of nephrotic syndrome (NS) in adults and a less common complication in children. Venous thrombosis is well recognized, but arterial thrombosis occurs less frequently and is seen primarily in children. We report a case of arterial thrombosis associated with factor V Leiden (FVL) mutation in a young girl with NS. Screening for inherited thrombophilias such as FVL mutation may be beneficial for NS patients with thromboembolic vascular events not explained by conventional risk factors. [ABSTRACT FROM AUTHOR]

This article is focused on the pathophysiology, prevalence , clinical manifestations, diagnosis, and treatment C deficiency with increased risk of thrombosis. Activated protein C (aPC) exerts its anticoagulant activity through inactivation of coagulation factors Va and VIIIa. Aside its anticoagulant property, aPC demonstrates anti-inflammatory and cytoprotectiveeffects, which are mediated through the endothelial protein C receptor and the protease-activated receptor-I (PAR-1). Studying and understanding the biological function of APS makes it possible to control coagulation and inflammation and to apply protein C preparations as anticoagulant and cytoprotective drugs in a physicians clinicalpractice.

OBJECTIVE: Budd-Chiari syndrome (BCS) is a life-threatening hepatic disease characterized by hepatic venous obstruction at the level of hepatic vein, hepatic venules, or inferior vena cava. No evidence reported the relationship between the endothelial progenitor cells and the deficiency of factor V Leiden and protein C in patients with primary Budd-Chiari syndrome. PATIENTS AND METHODS: We recruited participants between June 2014 and July 2015. For primary BCS group, 28 patients were collected. 20 patients were included in the NAFLD group. Another 73 healthy participants were recruited into the control group. None of the patients and participants had received interventional therapy or had undergone surgery prior to being recruited. Levels and functions of endothelial progenitor cells (EPCs) were examined. The factor V Leiden mutation, protein C deficiency and protein S deficiency were evaluated. Finally, the relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome was analyzed. RESULTS: The results showed that no significant differences were found between the BCS (and NAFLD) and control group considering age, sex, BMI, smoking (p>0.05 for variables). However, significant differences were observed in TG, TC, HDL-C, white blood cells, hemoglobin, ALT, AST, ALP, γ-GT, total bilirubin, and albumin (p<0.05 for variables). Compared with the healthy participants, significant downregulation was found in BCS and NAFLD patients regarding CD34+/CD45-, late outgrowth endothelial cells (OECs) colonies, OECs proliferation, and OECs tubulogenesis (p<0.001 for variables). Among the 28 BCS patients, factor V Leiden mutation (n=10, 35.71%, OR 12.67, 95% CI 5.24-27.93) and hereditary protein C deficiency (n=4, 14.29%, OR 7.48, 95% CI 2.02-21.43) were more prevalent than those in the control group. These results suggested that factor V Leiden mutation and protein C deficiency were major risk factors for BCS. Finally, we demonstrated that factor V Leiden and protein C deficiency may negatively regulate the OECs levels and functions in BCS patients. CONCLUSIONS: It's important to improve the OECs levels and functions, and to prevent the deficiency of factor V Leiden and protein C in the treatment of BCS. [ABSTRACT FROM AUTHOR]

Recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. It has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. Thrombophilia is an important predisposition to blood clot formation and is considered as a significant risk factor for recurrent pregnancy loss. The inherited predisposition to thrombophilia is most often associated with factor V Leiden mutation, prothrombin G20210A mutation, and methylenetetrahydrofolate reductase C677T and A1298C gene variants. The net effect is an increased cleavage of prothrombin to thrombin and excessive blood coagulation.

Background: Thus far, no data has become available to evaluate systematically the prevalences of prothrombin polymorphism A19911G (PT A19911G), factor V HR2 haplotype A4070G (FV A4070G), or plasminogen activator-inhibitor-1 polymorphism 4G/5G (PAI-1 4G/5G) in patients who develop retinal vein occlusion (RVO) without cardiovascular risk factors. Materials and methods: We retrospectively evaluated comprehensive thrombophilia data from 42 preselected RVO patients without cardiovascular risk factors. The prevalences of different gene mutations and polymorphisms including factor V Leiden mutation G1691A (FVL), FV A4070G, prothrombin mutation G20210A, PT A19911G, and PAI-1 4G/5G were compared with 241 healthy controls matched for age and sex. Results: A total of 20 patients (47.7%) were found to carry thrombophilic gene polymorphisms including FVL, FV A4070G, and homozygous PT A19911G compared with 72 of 241 controls (29.9%;p= 0.03). Subgroup analysis of patients with a significant personal or family history of thromboembolism revealed a high prevalence of FVL, FV A4070G, and homozygous PT A19911G (p= 0.005). FV A4070G was found to be significantly associated with at least two other heterozygous or one homozygous gene polymorphisms (p= 0.02). Multivariate analysis revealed the presence of FVL (p= 0.0017) and homozygous PT A19911G (p= 0.03) polymorphism as independent risk factors for the development of RVO. Conclusions: Our results indicate that in selected RVO patients screening for thrombophilic gene polymorphisms including FVL, FV A4070G and homozygous PT G19911A may be helpful in a high percentage of cases. Our findings suggest that hereditary thrombophilia associated with RVO is more likely to be multigenic than caused by any single risk factor. [ABSTRACT FROM PUBLISHER]

Extrahepatic portal vein thrombosis (PVT) is a rare condition that is characterized by the presence of thrombus within any segment of the portal vein, including the right and left intrahepatic branches. It may also extend to the splenic or superior mesenteric veins. Portal vein thrombosis may be related to cirrhosis or liver malignancy as well as to local inflammatory conditions in the abdomen and genetic or acquired thrombophilic diseases. Currently, PVT is being increasingly diagnosed due to advances in modern imaging techniques. The clinical presentation has a wide range, from an asymptomatic lesion to a potentially life-threatening situation. In this study, we present three patients with PVT. The diagnosis was made by radiologic and clinical findings. In the first patient, genetic testing revealed factor V Leiden mutation as the cause of PVT. The second patient was diagnosed with lupus anticoagulant syndrome as the cause of PVT. Portal vein thrombosis was associated with intra abdominal infection due to anastomotic leakage in the third patient. Two patients were successfully treated with anticoagulant therapy. This report emphasizes that even though PVT is a rare cause of abdominal pain, timely diagnosis and appropriate management is vital due to its lethal complications such as mesenteric ischemia and mesenteric infarct. [ABSTRACT FROM AUTHOR]

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features. [ABSTRACT FROM AUTHOR]

Background: The prevalence of Coronary artery disease (CAD) in India has increased considerably over the past few years and could become the number one killer disease if interventions are not done. Factor V Leiden (FVL) mutation and FII G20210A polymorphism are two recently described genetic factors with a propensity towards venous thrombosis. This warrants the investigations for thrombophilia in myocardial infarction patients in India. Methods: The study cohort consisted of 51 patients aged below 50 years presenting with acute coronary syndromes. In both patient group and normal individuals the major risk factors Protein C deficiency, Protein S deficiency, anticardiolipin antibodies, Fibrinogen and Lipoprotein [a] were studied. Factor V Leiden (FVL) G1691A mutation in both control and patient group was looked by using Polymerase chain reaction (PCR) followed by sequencing of the PCR products. Results: Our results indicated significantly higher levels of anticardiolipin antibodies and fibrinogen in the patients and absence of FVL (G1691A) mutation in our study cohort. One of the patients (H5) showed insertion of an extra A nucleotide in exon 10 of the Factor V gene resulting in frame shift mutation in this patient. Conclusion: The results of present study showed absence of FVL mutation in our population. However, there is a need to confirm the above findings on patients from different populations from different parts of the country. The insertion of an extra A in exon 10 in the patient needs to be ascertained to confirm that it is one of its kinds or is prevalent in the population.

Background: Role of genetic factors in etiology of preeclampsia is not confirmed yet.Objective: Gene defect frequency varies in different geographic areas as well as ethnic groups. In this study, the role of factor V Leiden mutation in the pathogenesis of preeclampsia syndrome among the pregnant population of northern shore of Persian Gulf in Iran, were considered.Materials and Methods: Between Jan. 2008 and Dec. 2009, in a nested case control study, pregnant women with preeclampsia (N=198) as cases and healthy (N=201) as controls were enrolled in the study. DNA were extracted from 10 CC peripheral blood and analyzed for presence of factor V Leiden mutation in these subjects. The maternal and neonatal outcomes of pregnancy according to the distribution of factor V Leiden were also compared among cases.Results: In total, 17(8.6%) of cases and 2(1%) of controls showed the factor V Leiden mutation. The incidence of factor V Leiden was typically higher in preeclamptic women than control group (OR: 9.34 %95 CI: 2.12-41.01). There was no difference in incidence rate of preterm delivery< 37 weeks (OR: 1.23 %95 CI: 0.38-4.02), very early preterm delivery

Objective: The aim of this study was to examine Factor V G1691A (Leiden) (FVL) and prothrombin G20210A (PT) gene mutation status, and their relationship with thrombosis in patients with chronic myeloproliferative disorders (CMPDs).Materials and Methods: The study included 160 patients with a CMPD that were regularly followed-up between 1993 and 2009. FVL and PT mutation status was established based on blood samples analyzed via PCR using specific primers.Results: The frequency of FVL and PT mutation was 12.5% and 4.4%, respectively. In total, 27 episodes of thrombosis occurred in 24 (15%) of the patients, and there wasn’t an association between the observed thrombotic events, and FVL or PT mutations. Hepatic vein thrombosis was noted in 3 patients that had FVL mutation, of which 1 also had PT mutation.Conclusion: We did not observe a relationship between thrombosis, and FVL or PT mutations in CMPD patients; however, 3 of the patients that had hepatic vein thrombosis also had FVL mutation. Larger studies are needed to more clearly determine if all CMPD patients with hepatic vein thrombosis need be investigated for FVL and PT mutation.