610 results on '"Factor V Leiden mutation"'
Search Results
352. Pulsatile tinnitus in a 16-year-old patient
- Author
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Richard B. Libman, Li Kan, Yoshimi Sogawa, and Lydia Eviatar
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Male ,medicine.medical_specialty ,Adolescent ,Pulsatile flow ,Tinnitus ,Developmental Neuroscience ,Pulsatile Tinnitus ,Internal medicine ,otorhinolaryngologic diseases ,medicine ,Humans ,Venous Thrombosis ,business.industry ,Factor V ,medicine.disease ,Surgery ,Venous thrombosis ,Neurology ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Cardiology ,Prothrombin ,Neurology (clinical) ,Factor V Leiden mutation ,medicine.symptom ,Intracranial Thrombosis ,business - Abstract
This report describes a child presenting with pulsatile tinnitus, most likely resulting from increased intracranial hypertension secondary to cerebral venous thrombosis. He was found to be homozygous for a prothrombin gene (G20210A) mutation as well as heterozygous for a factor V Leiden mutation. Physicians need to pursue and determine the cause of pulsatile tinnitus and intracranial hypertension.
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- 2004
353. Ischaemic stroke associated with ovarian hyperstimulation syndrome and factor V Leiden mutation
- Author
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Canan Togay-Isikay, Aytac Yigit, Tuncay Çelik, and Işık Üstüner
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Adult ,medicine.medical_specialty ,business.industry ,Pregnancy Complications, Cardiovascular ,Obstetrics and Gynecology ,Ovarian hyperstimulation syndrome ,Factor V ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Brain Ischemia ,Stroke ,Ovarian Hyperstimulation Syndrome ,Pregnancy ,Internal medicine ,Ischaemic stroke ,Mutation ,medicine ,Cardiology ,Humans ,Female ,Factor V Leiden mutation ,business ,Vertebral Artery - Published
- 2004
354. Sudden painless unilateral vision loss caused by branch retinal artery occlusion: implications for the primary care physician
- Author
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Raymond Harvey, Vasantha Kondamudi, Noah Kondamudi, Maritza Delarosa, and Rekha Reddy
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Male ,medicine.medical_specialty ,Retinal Artery Occlusion ,Primary health care ,Administration, Oral ,Blindness ,Eye ,Branch retinal artery occlusion ,medicine ,Humans ,Artery occlusion ,Referral and Consultation ,Retina ,Aspirin ,business.industry ,Heparin ,Primary care physician ,Factor V ,Physicians, Family ,General Medicine ,Middle Aged ,medicine.disease ,Surgery ,medicine.anatomical_structure ,Treatment Outcome ,Injections, Intravenous ,Practice Guidelines as Topic ,Factor V Leiden mutation ,business ,Sudden onset ,Systematic search - Abstract
We report a case of sudden onset visual loss caused by branch retinal artery occlusion. Systematic search for the cause of branch retinal artery occlusion revealed Factor V Leiden mutation and antiphospholipid antibody syndrome as the cause. Implications for diagnosis and management are discussed.
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- 2004
355. Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice
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Harry R. Büller, Michael Scavenius, Ivan Bank, Saskia Middeldorp, and Vascular Medicine
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Adult ,Male ,medicine.medical_specialty ,Health Knowledge, Attitudes, Practice ,Thrombophilia ,Insurance Coverage ,Interviews as Topic ,Risk Factors ,Daily practice ,medicine ,Factor V Leiden ,Humans ,cardiovascular diseases ,Genetic Testing ,Risk factor ,Life Style ,Genetic testing ,Netherlands ,Venous Thrombosis ,medicine.diagnostic_test ,business.industry ,Genetic Carrier Screening ,Factor V ,Reproducibility of Results ,Social Support ,Hematology ,Guideline ,Middle Aged ,medicine.disease ,Surgery ,Family medicine ,Healthy individuals ,Multivariate Analysis ,Mutation ,Female ,Factor V Leiden mutation ,business - Abstract
To explore social aspects of asymptomatic carriership of factor V Leiden mutation (FVL) and how carriers have experienced procedure of screening for FVL, we have performed a qualitative study using semi-structured interviews. Seventeen carriers of FVL without history of venous thromboembolism (VTE) were interviewed. Carriership of FVL has the potential to influence daily life by inducing concerns, stigmatisation and problems with insurances. Furthermore, proper procedure of screening is important because carriers have many questions concerning progeny, risk factors for VTE and preventive measures. Both health worker and the individual to be screened for FVL need to be fully aware of the possible consequences of screening and the fact that proper screening comprises more than only the collection of a blood sample or explaining the amount of risk for VTE induced by a genetic defect. Any guideline to be developed for the screening for FVL should take this into account too. (C) 2004 Elsevier Ltd. All rights reserved
- Published
- 2004
356. Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis
- Author
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Mauro Silingardi, Salvarani, C., Boiardi, L., Accardo, P., Iorio, A., Olivieri, I., Cantini, F., Salvi, F., La Corte, R., Triolo, G., Ciccia, F., Ghirarduzzi, A., Filippini, D., Paolazzi, G., Iori, I., SILINGARDI M, SALVARANI C, BOIARDI L, ACCARDO P, IORIO A, OLIVIERI I, CANTINI F, SALVI F, LA CORTE R, TRIOLO G, CICCIA F, GHIRARDUZZI A, FILIPPINI D, PAOLAZZI G, IORI I, Silingardi, M, Salvarani, C, Boiardi, L, Accardo, P, Iorio, A, Olivieri, I, Cantini, F, Salvi, F, LA CORTE, R, Triolo, Giovanni, Ciccia, Francesco, Ghirarduzzi, A, Filippini, D, Paolazzi, G, and Iori, I.
- Subjects
Adult ,Male ,Venous Thrombosis ,Factor V Leiden mutation, Prothrombin G20210A mutation ,Adolescent ,Genotype ,Behcet Syndrome ,Factor V ,Middle Aged ,Behc ̧et’s disease ,Deep vein thrombosis ,Female ,Gene Frequency ,Humans ,Italy ,Prothrombin ,Risk Factors ,Point Mutation ,Deep vein thrombosi ,Factor V Leiden mutation ,Prothrombin G20210A mutation ,Behcet’s disease - Abstract
OBJECTIVE: To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD). METHODS: Included were 118 consecutive Italian BD patients followed over a 3-year period (1997-1999) who satisfied the International Study Group criteria for BD. The control group consisted of 132 healthy Italian blood donors. All BD patients and controls were genotyped by polymerase chain reaction and allele-specific restriction enzyme techniques for factor V Leiden and prothrombin gene G20210A polymorphisms. RESULTS: Vascular lesions were observed in 37 (31.4%) patients. The 2 most common lesions were subcutaneous thrombophlebitis (10.2%) and deep vein thrombosis (DVT) of the legs (22.8%). No significant demographic and clinical differences between patients with and without DVT were present. The distribution of allele and genotype frequencies of prothrombin gene G20210A and factor V Leiden polymorphisms did not differ significantly between BD patients and healthy controls. The frequencies of carriage rates of prothrombin gene G20210A and factor V Leiden polymorphisms in BD patients with and without DVT were similar. However, the frequency of 20210A allele was significantly higher in BD patients with ocular disease than in those without, particularly in the patients with posterior uveitis/retinal vasculitis. CONCLUSIONS: The frequency and types of vascular lesions in Italian BD patients were similar to those reported in studies from other countries. No association between factor V Leiden mutation and G20210A mutation in the 3'-untranslated region of the prothrombin gene with DVT was found. However, a prothrombin gene G20210A mutation may influence the development and severity of ocular involvement in BD.
- Published
- 2004
357. Prothrombin 20210GA and factor V Leiden mutations in patients less than 55 years old with myocardial infarction
- Author
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Cumhur Alhan, Mehmet Kanadaşı, Mustafa Demirtaş, Murat Çaylı, Kahraman Tanriverdi, Mesut Demir, Fikri Baslamisli, Yurdaer Dönmez, and Çukurova Üniversitesi
- Subjects
Adult ,Male ,medicine.medical_specialty ,Light cycler ,Chest pain ,Gastroenterology ,Internal medicine ,Factor V Leiden mutation ,medicine ,Factor V Leiden ,Humans ,In patient ,Myocardial infarction ,cardiovascular diseases ,business.industry ,Factor V ,Middle Aged ,medicine.disease ,Thrombosis ,Surgery ,Prothrombin 20210GA mutation ,Real-time polymerase chain reaction ,Logistic Models ,Mutation ,Female ,Prothrombin ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business - Abstract
PubMedID: 15240970 Several studies claim that prothrombin 20210GA and factor V Leiden mutations are related to arterial thrombosis. We investigated the frequencies of these mutations and their significance in the development of early atherosclerosis in acute myocardial infarction (AMI) patients younger than 55 years of age. We investigated 96 patients with AMI and 77 control subjects. The diagnosis of AMI was established by typical chest pain and ST elevations on the presentation electrocardiogram and characteristic cardiac enzyme elevations. None of the control subjects had evidence of cardiovascular disease. DNA samples were isolated from all subjects and prothrombin 20210GA and factor V Leiden mutations were determined by the RealTime PCR technique with the aid of a Light Cycler device. The prevalence of factor V Leiden mutation was 6.3% and 5.2% in the patient and control groups, respectively (OR 0.6 [95% CI 0.1- 3.9], P = 0.6), whereas the prevalence of prothrombin G20210A mutation was 4.2% and 2.6% in the patient and control groups, respectively (OR 2.8 [95% CI 0.2 - 32.2], P = 0.4). None of the patients had both mutations. Prothrombin 20210GA and factor V Leiden mutations are not significant risk factors for the development of myocardial infarction in patients less than 55 years old in Southern Turkey. Copyright © 2004 by the Japanese Heart Journal.
- Published
- 2004
358. The distribution of Factor V Leiden mutation
- Author
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Aydan Eroğlu
- Subjects
Male ,medicine.medical_specialty ,Polymorphism, Genetic ,biology ,business.industry ,Mutation, Missense ,Factor V ,Venous Thromboembolism ,Hematology ,Internal medicine ,biology.protein ,Cardiology ,Humans ,Medicine ,Distribution (pharmacology) ,Female ,Prothrombin ,Factor V Leiden mutation ,Cardiology and Cardiovascular Medicine ,business ,Venous thromboembolism ,Methylenetetrahydrofolate Reductase (NADPH2) - Published
- 2012
359. Hughes-Stovin Syndrome
- Author
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Wilfried Hartmann, Michael Böhm, Heinrike Wilkens, Michael Kindermann, and Hans-Joachim Schäfers
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medicine.medical_specialty ,medicine.diagnostic_test ,Vena cava ,business.industry ,medicine.disease ,Surgery ,Venous access ,Venous thrombosis ,medicine.anatomical_structure ,Physiology (medical) ,Occlusion ,Angiography ,cardiovascular system ,medicine ,Hughes–Stovin syndrome ,Factor V Leiden mutation ,Cardiology and Cardiovascular Medicine ,Vein ,business - Abstract
A 50-year-old woman suffering from shortness of breath and unproductive coughing for 6 months was admitted to the hospital because of recurrent hemoptysis. The patient had a history of deep venous thrombosis of both legs and the pelvic veins. A thrombophilic state was assumed because of a factor V Leiden mutation. Angiography showed occlusion of both iliac vein systems and of the vena cava inferior (Figure 1). Venous access to the central circulation was possible through …
- Published
- 2003
360. Screening for the Factor V Leiden Mutation
- Author
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Karen P. Brown
- Subjects
biology ,business.industry ,Antithrombin ,medicine.disease ,Bioinformatics ,Thrombosis ,Protein S ,Pathogenesis ,biology.protein ,medicine ,Factor V Leiden mutation ,Genetic risk ,business ,Venous thromboembolism ,Protein C ,medicine.drug - Abstract
Familial clustering of thrombosis suggests that genetic risk factors are important in the pathogenesis of venous thromboembolism. However, until recently, well defined genetic defects such as antithrombin, protein C and protein S deficiencies accounted for less than 10% of patients with thrombosis.
- Published
- 2003
361. Factor V Leiden mutation in Sneddon syndrome
- Author
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M. Aïach, A. Ankri, Camille Francès, R. Besnier, and J.C. Piette
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pathology ,Adolescent ,030204 cardiovascular system & hematology ,Sneddon syndrome ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,Gene Frequency ,Factor V Leiden ,Prevalence ,Medicine ,Humans ,Point Mutation ,030212 general & internal medicine ,Stroke ,business.industry ,Factor V ,Livedo racemosa ,Middle Aged ,medicine.disease ,Dermatology ,Pathophysiology ,Sneddon Syndrome ,Antibodies, Antiphospholipid ,Female ,Factor V Leiden mutation ,medicine.symptom ,business ,Protein C - Abstract
Sneddon syndrome (SNS) is characterizedby the associationof ischaemic cerebrovascularevents and widespread livedo racemosa. Its pathophysiology is still controversial. The aim of this study was to evaluate the prevalence of factor V Leiden mutation in consecutive patients referred for SNS according to antiphospholipid antibodies (aPL) status. Fifty-three Caucasian patients were enrolled from 1996 to 2001. Diagnosis of SNS was based on the presence of a widespread livedo racemosa and at least one clinical neurologic ischaemic event. The following investigations were performed: detection of antithrombin III, protein C and protein S deficiency, lupus anticoagulant, anticardiolipin and anti-b2 glycoprotein I antibodies, biologic false-positive test for syphilis, and factor V Leiden mutation by direct genomic analysis. Fisher’s test and t-test were used for statistics. Detection of aPL on multiple determinationswas negativein 31 patients (group 1) and positivein 22 patients (group 2). Factor V Leiden mutation was detected in six patients (11.3%), heterozygousin all. The frequency of this mutation was statistically higher in group 1 (6/31, 19.3%) than in group 2 (0/22; P 0.035). Within aPL-negative SNS, the comparison of patients with versus without factor V Leiden mutation showed no difference for clinical data or familial history of thrombosis. A high prevalence of heterozygous factor V mutation was found in aPL-negative patients with SNS. This finding adds further arguments to consider SNS as a heterogeneous entity.
- Published
- 2003
362. Carotid artery thrombosis in a child with membranous nephropathy associated with factor V Leiden mutation
- Author
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Hsiang-Fu Hsu and Shi-Ying Huang
- Subjects
medicine.medical_specialty ,Membranous nephropathy ,business.industry ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,Carotid Artery Thrombosis ,Factor V Leiden mutation ,business ,medicine.disease ,Gastroenterology - Published
- 2012
363. Factor V Leiden mutation: An added risk in single ventricle palliation
- Author
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Kothurathu Mammem Cherian, Chidambaram Shanthi, R Saileela, Ravi Agarwal, and Raghavan Subramanyan
- Subjects
medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,lcsh:Diseases of the circulatory (Cardiovascular) system ,medicine.medical_treatment ,lcsh:Medicine ,Case Report ,Fontan procedure ,Internal medicine ,hemic and lymphatic diseases ,Factor V Leiden mutation ,medicine ,Coagulopathy ,cardiovascular diseases ,business.industry ,lcsh:R ,lcsh:RJ1-570 ,lcsh:Pediatrics ,thromboembolism ,medicine.disease ,Surgery ,medicine.anatomical_structure ,Ventricle ,lcsh:RC666-701 ,Pediatrics, Perinatology and Child Health ,Cardiology ,Cardiology and Cardiovascular Medicine ,business ,Complication ,Fontan - Abstract
We present the case report of a child with Factor V Leiden mutation who underwent Fontan procedure. Thromboembolism is a widely recognized complication of the Fontan procedure and its modifications. Factor V Leiden mutation, being a hypercoagulable state, posed a higher risk for thromboembolism in this child. Appropriate measures taken before and after surgery prevented postoperative coagulopathy.
- Published
- 2012
364. Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: report of two cases
- Author
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Michèle David, Morris H. Scantlebury, and Lionel Carmant
- Subjects
Pediatrics ,medicine.medical_specialty ,Adolescent ,Population ,Hemiplegia ,030204 cardiovascular system & hematology ,Cerebral palsy ,03 medical and health sciences ,0302 clinical medicine ,Seizures ,medicine ,Factor V Leiden ,Humans ,Point Mutation ,education ,education.field_of_study ,Epilepsy ,business.industry ,Factor V ,Syndrome ,medicine.disease ,Thrombosis ,Venous thrombosis ,Cerebrovascular Disorders ,Anesthesia ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Epilepsy syndromes ,Female ,Neurology (clinical) ,Factor V Leiden mutation ,business ,030217 neurology & neurosurgery ,Pediatric population - Abstract
The factor V Leiden mutation is the most common hereditary cause of venous thrombosis in our population. In the pediatric population, it has been associated with cerebrovascular thrombosis, cerebral palsy, and prosencephaly in neonates. We present two children with hemiconvulsion, hemiplegia, and epilepsy syndrome in whom the cause is likely attributable to the factor V Leiden mutation. We suggest that patients presenting with hemiconvulsion, hemiplegia, and epilepsy syndrome should be routinely investigated for factor V Leiden, and, if positive, careful consideration should be given to therapeutic and prophylactic anticoagulation as this may improve long-term outcome. (J Child Neurol 2002;17:713-717).
- Published
- 2002
365. Occurrence of factor V Leiden mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients
- Author
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Elvira Grandone, Paola Crociani, D. Fogli, F. Di Rienzo, Pietro Attilio Tonali, Giuseppe Cappucci, Domenico Intiso, P. Di Viesti, and P. Simone
- Subjects
Adult ,Male ,medicine.medical_specialty ,Neurology ,Genotype ,Glutamine ,Migraine Disorders ,Dermatology ,Arginine ,Gastroenterology ,Internal medicine ,medicine ,Factor V Leiden ,Confidence Intervals ,Odds Ratio ,Humans ,Point Mutation ,cardiovascular diseases ,Chi-Square Distribution ,biology ,business.industry ,Factor V ,General Medicine ,medicine.disease ,Migraine with aura ,Psychiatry and Mental health ,Coagulation ,Migraine ,Amino Acid Substitution ,Italy ,Antibodies, Anticardiolipin ,Immunology ,biology.protein ,Anticardiolipin antibodies ,Female ,Neurology (clinical) ,Factor V Leiden mutation ,Antibody ,medicine.symptom ,business - Abstract
The occurrences of factor V Leiden mutation (Arg506Gln) and antiphospholipid antibodies (APA) in migraine patients have been reported, but the findings are controversial. We investigated the presence of factor V Leiden and the serum level of anticardiolipin antibodies (aCL) in a consecutive series of 70 migraine patients (47 women; mean age, 34.1 years). Of these, 40 patients had migraine with aura. A matched sample of 70 healthy people was considered as the control group. Heterozygous genotype for factor V Leiden mutation was detected in 4 (5.7%) migraine patients (of which 2 had migraine with aura) and in 2 (2.8%) subjects of the control group. Although proportionally more migraine patients harbored the factor V Leiden mutation, this difference was not statistically significant, perhaps due to the small number of patients involved. We found normal serum levels of aCL in all migraine patients. Further studies and a long-term follow-up are warranted to determine the significance of this genetic abnormality in migraine.
- Published
- 2002
366. Factor V Leiden mutation screened by PCR and detected with lanthanide-labeled probes
- Author
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David C. Rees, C G Potter, and Yan-Tat Liu
- Subjects
Genetics ,education.field_of_study ,Staining and Labeling ,Oligonucleotide ,Population ,Mutant ,Factor V ,Biology ,Molecular biology ,Lanthanoid Series Elements ,Polymerase Chain Reaction ,United Kingdom ,law.invention ,law ,Molecular Probes ,Mutation ,Humans ,Factor V Leiden mutation ,Genetic Testing ,Restriction fragment length polymorphism ,education ,Molecular probe ,Allele frequency ,Genetics (clinical) ,Polymerase chain reaction - Abstract
The Factor V Leiden mutation is an important human polymorphism, responsible for increased risk of venous thrombosis in heterozygotes as well as homozygotes. Therefore, screening is a useful possibility, and many detection systems have been described for PCR products. We have developed a simplified and robust assay using oligonucleotide probes for normal and mutant sequences, labeled with europium and samarium, respectively, and measured by time-resolved fluorescence. Populations consisting of 233 Welsh and 148 Irish subjects were examined by both restriction fragment length polymorphism (RFLP) analysis and our assay. The allele frequency was 14/466 in the Welsh and 5/296 in the Irish population, in line with other surveys of European populations. Results were not obtained in 2/381 samples by RFLP, compared with 1/381 with our method. We conclude that our method represents an improved system capable of considerable throughput at reasonable cost.
- Published
- 2002
367. REGIONAL ANESTHESIA USE IN PARTURIENTS WITH FACTOR V LEIDEN MUTATION
- Author
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Lawrence C. Tsen, M. E. Walsh, and M. J. Harnett
- Subjects
Anesthesiology and Pain Medicine ,Regional anesthesia ,business.industry ,Anesthesia ,Medicine ,Factor V Leiden mutation ,business - Published
- 2002
368. Factor V Leiden and prothrombin gene mutation in inflammatory bowel disease in a Mediterranean area
- Author
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D, Turri, M, Rosselli, P, Simioni, D, Tormene, S, Grimaudo, G, Martorana, S, Siragusa, G, Mariani, M, Cottone, and S, Siracusa
- Subjects
Male ,medicine.medical_specialty ,Pathology ,Prothrombin gene mutation ,Population ,Gene mutation ,Gastroenterology ,Inflammatory bowel disease ,Crohn Disease ,hemic and lymphatic diseases ,Internal medicine ,Thromboembolism ,Factor V Leiden ,medicine ,Prevalence ,Humans ,Point Mutation ,education ,education.field_of_study ,Hepatology ,business.industry ,Mediterranean Region ,Factor V ,Middle Aged ,medicine.disease ,Venous thrombosis ,Mediterranean area ,Colitis, Ulcerative ,Female ,Prothrombin ,Factor V Leiden mutation ,business - Abstract
Background. Thromboembolism has been reported to be associated with inflammatory bowel disease. Aim. To evaluate the association of factor V Leiden and prothrombin gene mutation with inflammatory bowel disease in a population of patients with thromboembolic events and inflammatory bowel disease and in a control population of patients with inflammatory bowel disease without thromboembolic events. Patients and methods. A series of 18 patients with inflammatory bowel disease and a history of arterial or venous thrombosis and 45 patients with inflammatory bowel disease without thromboembolic events were evaluated for the presence of factor V Leiden and prothrombin gene mutation. Frequency of gene mutation was compared with its occurrence in 100 healthy controls. Results. One patient with inflammatory bowel disease without thromboembolic events was heterozygous for factor V Leiden mutation. whereas no patient with a thromboembolic event had factor V Leiden mutation. No patients (either cases or controls) had prothrombin gene mutation. In the healthy population the frequency of factor V Leiden and prothrombin mutation was 5% and 2%, respectively. Conclusions. Data emerging from the present study do not support any role of factor V Leiden and prothrombin gene mutation as the cause of thromboembolism in inflammatory bowel disease.
- Published
- 2002
369. P.87 Obstetric risks for homozygous and heterozygous carriers of the factor V Leiden mutation – does anticoagulation make a difference?
- Author
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Eyal Schiff, I. Gat, E. Sivan, M.J. Simchen, and Moti Dulitzki
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,medicine ,Hematology ,Factor V Leiden mutation ,business - Published
- 2011
370. Factor V Leiden mutation and pregnancy-related complications
- Author
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J.S. Dungan
- Subjects
Gynecology ,medicine.medical_specialty ,Pregnancy ,business.industry ,medicine ,Factor V Leiden mutation ,business ,medicine.disease - Published
- 2011
371. Superior Mesenteric Vein Thrombosis in a Patient Heterozygous for Factor V Leiden Mutation and With a History of Sleeve Gastrectomy
- Author
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Micheal Piper, Ahmad Malas, and Victor Velocci
- Subjects
medicine.medical_specialty ,Sleeve gastrectomy ,Hepatology ,SUPERIOR MESENTERIC VEIN THROMBOSIS ,business.industry ,Internal medicine ,medicine.medical_treatment ,Gastroenterology ,medicine ,Factor V Leiden mutation ,business - Published
- 2014
372. Cerebrovascular disorders in children with the factor V Leiden mutation
- Author
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Cynthia J. Curry, John K. Lynch, Karin B. Nelson, and Judith K. Grether
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,First year of life ,Hemiplegia ,030204 cardiovascular system & hematology ,Cerebral palsy ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Risk Factors ,medicine ,Humans ,cardiovascular diseases ,Risk factor ,Neurologic Examination ,business.industry ,Cerebral Palsy ,Cerebrovascular disorder ,Infant, Newborn ,Factor V ,Infant ,Cerebral Infarction ,medicine.disease ,Thrombosis ,Cerebrovascular Disorders ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Mutation ,Female ,Neurology (clinical) ,Factor V Leiden mutation ,business ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
Since 1995, at least 128 children with a cerebrovascular disorder, cerebral palsy, or both and the factor V Leiden mutation have been reported. The majority of these strokes were in the first year of life, many of them in the perinatal period. Two thirds had an additional exogenous risk factor for thrombosis, and 42% had another recognized endogenous prothrombotic risk factor in combination with the mutation. We review the association of the factor V Leiden mutation and a cerebrovascular disorder in children younger than 16 years of age and describe the clinical features of 8 children with cerebral palsy and the Leiden mutation. This mutation should be considered in the evaluation of children with a stroke or its sequelae, including infants with perinatal stroke. (J Child Neurol 2001;16:735-744).
- Published
- 2001
373. The relationship of the factor V Leiden mutation or the deletion-deletion polymorphism of the angiotensin converting enzyme to postoperative thromboembolic events following total joint arthroplasty
- Author
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Carrie Fang, Avi C. Baitner, Paul E. Di Cesare, Paul S. Issack, David Steiger, and Craig J. Della Valle
- Subjects
medicine.medical_specialty ,Joint arthroplasty ,lcsh:Diseases of the musculoskeletal system ,biology ,business.industry ,medicine.medical_treatment ,Angiotensin-converting enzyme ,medicine.disease ,Gastroenterology ,Rheumatology ,Surgery ,Internal medicine ,Fibrinolysis ,Epidemiology ,Factor V Leiden ,medicine ,biology.protein ,Orthopedics and Sports Medicine ,Factor V Leiden mutation ,lcsh:RC925-935 ,business ,Complication ,Research Article - Abstract
Background Although all patients undergoing total joint arthroplasty are subjected to similar risk factors that predispose to thromboembolism, only a subset of patients develop this complication. The objective of this study was to determine whether a specific genetic profile is associated with a higher risk of developing a postoperative thromboembolic complication. Specifically, we examined if the Factor V Leiden (FVL) mutation or the deletion polymorphism of the angiotensin-converting enzyme (ACE) gene increased a patient's risk for postoperative thromboembolic events. The FVL mutation has been associated with an increased risk of idiopathic thromboembolism and the deletion polymorphism of the ACE gene has been associated with increased vascular tone, attenuated fibrinolysis and increased platelet aggregation. Methods The presence of these genetic profiles was determined for 38 patients who had a postoperative symptomatic pulmonary embolus or proximal deep venous thrombosis and 241 control patients without thrombosis using molecular biological techniques. Results The Factor V Leiden mutation was present in none of the 38 experimental patients and in 3% or 8 of the 241 controls (p = 0.26). Similarly there was no difference detected in the distribution of polymorphisms for the ACE gene with the deletion-deletion genotype present in 36% or 13 of the 38 experimental patients and in 31% or 74 of the 241 controls (p = 0.32). Conclusions Our results suggest that neither of these potentially hypercoaguable states are associated with an increased risk of symptomatic thromboembolic events following total hip or knee arthroplasty in patients receiving pharmacological thromboprophylaxis.
- Published
- 2001
374. Prothrombin 20210 G: a mutation and Factor V Leiden mutation in women with a history of severe preeclampsia and (H)ELLP syndrome
- Author
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Pieter H. Reitsma, Harry R. Büller, Koopman Mm, van den Ende A, van Pampus Mg, Hans Wolf, and Other departments
- Subjects
Adult ,HELLP Syndrome ,medicine.medical_specialty ,Glutamine ,Perinatal outcome ,Arginine ,medicine.disease_cause ,Gastroenterology ,Preeclampsia ,Pre-Eclampsia ,Pregnancy ,Internal medicine ,hemic and lymphatic diseases ,Internal Medicine ,Factor V Leiden ,Humans ,Point Mutation ,Medicine ,Thrombotic risk ,Mutation ,business.industry ,Factor V ,Obstetrics and Gynecology ,medicine.disease ,Severe preeclampsia ,female genital diseases and pregnancy complications ,Surgery ,Female ,Prothrombin ,Factor V Leiden mutation ,business ,Venous thromboembolism - Abstract
The 20210 G-A prothrombin gene variant and the Factor V Leiden mutation are mutations associated with venous thrombotic risk. The aim of our study was to assess the prevalence of these specific mutations in women with a history of preeclampsia or hemolysis elevated liver enzymes, and low platelet count [(H)ELLP] syndrome and their influence on perinatal outcome. In addition, the association with venous thromboembolism was assessed. One hundred fourteen (114) women with a history of preeclampsia or (H)ELLP syndrome were investigated at least 3 months' postpartum for the presence of 20210 G-A prothrombin gene variant and Factor V Leiden mutation. Four (3.5%) of the women had the 20210 G-A prothrombin gene variant, four (3.5%) women had the Factor V Leiden mutation, and one of these women carried both mutations. The prevalence of prothrombin 20210 G-A prothrombin and Factor V Leiden mutation in women with severe preeclampsia or (H)ELLP syndrome were comparable with the prevalence in the general Dutch population. The odds ratio for thromboembolism for carriers versus noncarriers was 22 (95% confidence interval: 1.7-303). Perinatal mortality was not significantly higher in women with any mutation [odds ratio: 1.5 (0.2-9.5)]. Although our study confirms that prothrombin 20210 G-A mutation and Factor V Leiden mutation are important genetic risk factors associated with thrombotic risk, these mutations appear not related to perinatal outcome in women with preeclampsia or (H)ELLP syndrome. It is unlikely that these mutations are of major importance for the development of severe preeclampsia or (H)ELLP syndrome
- Published
- 2001
375. Factor VLeiden mutation with retinal vascular occlusion
- Author
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S. R. Sadda and P. A. Keane
- Subjects
Retinal Vascular Occlusion ,medicine.medical_specialty ,business.industry ,Ophthalmology ,Internal Medicine ,medicine ,Factor V Leiden mutation ,business ,Surgery - Published
- 2010
376. Factor V Leiden mutation: Kjellberg et al
- Author
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Cecilia Gambala, Amy Cline, Gary Loy, Isabelle Wilkins, Tamika Alexander, and Krista J. Childress
- Subjects
business.industry ,Obstetrics and Gynecology ,Medicine ,Factor V Leiden mutation ,business ,Molecular biology - Published
- 2010
377. Ischemic Colitis Associated with Factor V Leiden Mutation and Oral Contraceptive Use: A Case Report
- Author
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Gagandeep Dhingra and Rangan Murali
- Subjects
medicine.medical_specialty ,Contraceptive use ,Hepatology ,business.industry ,Internal medicine ,Gastroenterology ,medicine ,Factor V Leiden mutation ,business ,medicine.disease ,Ischemic colitis - Published
- 2010
378. Prevalence of factor V Leiden mutation in Yugoslav thrombophilic patients and its relationship to the laboratory diagnosis of APC resistance
- Author
-
Dragica Radojkovic, Ljiljana Rakicevic, Mirjana Kovac, and Danijela Mikovic
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Yugoslavia ,Thrombophilia ,hemic and lymphatic diseases ,medicine ,Prevalence ,Humans ,cardiovascular diseases ,Activated Protein C Resistance ,biology ,business.industry ,Clinical Laboratory Techniques ,Apc resistance ,Factor V ,Vascular biology ,Hematology ,Middle Aged ,medicine.disease ,Thrombosis ,female genital diseases and pregnancy complications ,Mutation (genetic algorithm) ,Mutation ,biology.protein ,Cancer research ,Female ,Factor V Leiden mutation ,Activated protein C resistance ,business - Abstract
Prevalence of Factor V Leiden Mutation in Yugoslav Thrombophilic Patients and Its Relationship to the Laboratory Diagnosis of APC Resistance
- Published
- 2000
379. Markers of thrombophilia in retinal vein thrombosis
- Author
-
Lene Hansen, Jørgen Ingerslev, Hanne Lene Kristensen, and Toke Bek
- Subjects
Adult ,Male ,medicine.medical_specialty ,Hyperhomocysteinemia ,Thrombophilia ,Gastroenterology ,Antithrombins ,Protein S ,Risk Factors ,Internal medicine ,Thromboembolism ,Retinal Vein Occlusion ,medicine ,Prevalence ,Humans ,Risk factor ,Homocysteine ,Aged ,Retrospective Studies ,High prevalence ,Retinal vein thrombosis ,business.industry ,Factor V ,Middle Aged ,medicine.disease ,Surgery ,Ophthalmology ,Venous thrombosis ,Cohort ,Female ,Factor V Leiden mutation ,business ,Biomarkers ,Protein C - Abstract
Purpose: To study the prevalence of risk factors for systemic thromboembolism in patients with retinal vein thrombosis (RVT). Methods: Fifty-four patients younger than 70 years, diagnosed with a retinal vein thrombosis at the Department of Ophthalmology, Arhus University Hospital, were examined for the presence of venous thrombosis risk factors. Results: 23 patients had a central RVT, 26 had a branch RVT, and 4 had a macular RVT. Nineteen (35.2%) of the patients displayed increased levels of plasma homocysteine, one patient (1.9%) the Factor V Leiden mutation, and one patient (1.9%) displayed an antiphospholipid antibody. All other tests for thrombophilia rendered normal. In 15 of the patients with hyperhomocysteinemia, folic acid substitution returned plasma homocysteine to a normal value in 12 cases. Conclusion: A surprisingly high prevalence of hyperhomocysteinemia was detected in this cohort of RVT patients, clearly superseding the prevalence of around 17% found in patients suffering venous thromboembolism in other vascular compartments. Our finding points to the likelihood that hyperhomocysteinemia may be a significant risk factor for retinal vein thrombosis.
- Published
- 2000
380. Cardiovascular implications of the factor V Leiden mutation
- Author
-
David C. Sane, David A. Major, and David M. Herrington
- Subjects
Genetics ,medicine.medical_specialty ,business.industry ,Factor V ,medicine.disease ,Surgery ,Thromboembolism ,Mutation (genetic algorithm) ,Factor V Leiden ,Medicine ,Humans ,Genetic Predisposition to Disease ,Factor V Leiden mutation ,Risk factor ,Cardiology and Cardiovascular Medicine ,business ,Venous disease ,Activated Protein C Resistance - Published
- 2000
381. Evaluation of the Roche diagnostics LightCycler-Factor V Leiden Mutation Detection Kit and the LightCycler-Prothrombin Mutation Detection Kit
- Author
-
Winfried März, Markus Nauck, and Heinrich Wieland
- Subjects
Genotype ,Clinical Biochemistry ,DNA Mutational Analysis ,Biology ,Roche Diagnostics ,Polymerase Chain Reaction ,law.invention ,Nucleic acid thermodynamics ,law ,Polymorphism (computer science) ,Humans ,Polymerase chain reaction ,Fluorescent Dyes ,Prothrombin mutation ,Factor V ,Nucleic Acid Hybridization ,Reproducibility of Results ,Thrombosis ,General Medicine ,DNA ,Molecular biology ,Evaluation Studies as Topic ,Mutation ,Prothrombin ,Factor V Leiden mutation ,Polymorphism, Restriction Fragment Length - Published
- 2000
382. Prevalence of Factor V Leiden Mutation in Healthy Women
- Author
-
L. Janků, A. Buliková, M. Matýšková, I. Hrachovinová, Z. Vorlová, and Paseka J
- Subjects
Thrombotic risk ,education.field_of_study ,Range (biology) ,business.industry ,Population ,Factor V Leiden ,medicine ,Factor V Leiden mutation ,European population ,education ,medicine.disease ,business ,Demography - Abstract
Factor V Leiden (FVL) seems to be the most common hereditary thrombotic risk factor in the European population. Its prevalence in healthy Caucasian populations has been reported in a range between 3% and 7%. The aim of our study was to establish the prevalence of the defect in the Czech population.
- Published
- 2000
383. Prevalence of Factor V Leiden Mutation in Thrombophilia
- Author
-
M. Matýšková, I. Hrachovinová, L. Janků, A. Buliková, Z. Vorlová, and J. Zavřelová
- Subjects
Thrombotic risk ,Pediatrics ,medicine.medical_specialty ,business.industry ,medicine.disease ,Thrombophilia ,Thrombosis ,Venous thrombosis ,Medicine ,Death cause ,Factor V Leiden mutation ,Genetic risk ,business ,Complication - Abstract
Thrombosis is a common complication of many disorders and one of the most frequent death cause. There are six abnormalities accepted as genetic risk factors for venous thrombosis. Factor V Leiden mutation (FVL) is known as the most common of them. Its presence could increase the thrombotic risk five to ten times. That is the reason for FVL determination in young patients with thrombosis, especially idiopathic, in individuals with repeated thromboses or unusually sites. We also recommend family member’s examination in FVL carriers.
- Published
- 2000
384. The impact of the Factor V Leiden mutation on pregnancy
- Author
-
Francesco Morini, V. Spina, and V. Aleandri
- Subjects
medicine.medical_specialty ,Placenta Diseases ,Pregnancy Complications, Cardiovascular ,Population ,Thrombophilia ,Miscarriage ,Pre-Eclampsia ,Pregnancy ,Factor V Leiden ,Humans ,Medicine ,education ,Fetal Death ,Venous Thrombosis ,Gynecology ,education.field_of_study ,Fetal Growth Retardation ,biology ,business.industry ,Obstetrics ,Pregnancy Complications, Hematologic ,Pregnancy Outcome ,Factor V ,Obstetrics and Gynecology ,medicine.disease ,Reproductive Medicine ,Mutation ,Mutation (genetic algorithm) ,biology.protein ,Female ,activated protein c resistance ,activated proteina c resistance ,factor v leiden mutation ,obstetric pathologies ,pregnancy outcome ,thrombophilia ,trombophilia ,Activated protein C resistance ,business - Abstract
A resistance to the anticoagulant activity of activated protein C (APC), most frequently due to a point mutation in the Factor V gene (the Leiden mutation), represents the most common genetic cause of thrombophilia. The Leiden mutation has been significantly related to pregnancy complications associated with hypercoagulation, e.g. deep vein thrombosis during pregnancy (8-fold increased risk), pre-eclampsia (prevalence of the mutation up to 26%), placental infarction extending to > 10% of the placenta (10-fold increased risk), abruptio placentae (prevalence of the mutation up to 29.6%), and second- and third-trimester pregnancy failure (prevalence of the mutation up to 31.3%). An association of the maternal mutation with recurrent first-trimester miscarriage does not emerge from the literature, although fetal mutation (frequency higher than twice compared with that of the general population) has been related to early spontaneous miscarriage. Although some evidence suggests an association between APC resistance and intrauterine growth retardation, no significant relationship emerges currently from the literature. Screening for the Leiden mutation would seem advisable in women with previous pregnancy complications amongst those associated with APC resistance. Carriers of the mutation should be given appropriate counselling. The screening of asymptomatic women is not recommended at present.
- Published
- 2000
385. Factor V Leiden Mutation and Antiphospholipid Syndrome: Risk Factors for Atherosclerotic and Arterial Thromboembolic Disease
- Author
-
Fiona N.A.C. Miller, Deepa Shah, Michael E. Gaunt, and Avnesh S. Thakor
- Subjects
medicine.medical_specialty ,business.industry ,Antiphospholipid syndrome ,Internal medicine ,medicine ,MEDLINE ,Radiology, Nuclear Medicine and imaging ,Thromboembolic disease ,Factor V Leiden mutation ,Cardiology and Cardiovascular Medicine ,business ,medicine.disease ,Gastroenterology - Published
- 2009
386. Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss
- Author
-
M.G. Bissell
- Subjects
Genetics ,Pregnancy ,Pediatrics ,medicine.medical_specialty ,business.industry ,medicine ,Etiology ,Factor V Leiden mutation ,medicine.disease ,business - Published
- 2009
387. Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis
- Author
-
Miljić, Predrag, Colović, M, Bosković, D, Rakićević, Ljiljana, Đorđević, Valentina, Miljić, Predrag, Colović, M, Bosković, D, Rakićević, Ljiljana, and Đorđević, Valentina
- Published
- 2002
388. Effect of the Factor V Leiden mutation on the severity of meningococcal disease
- Author
-
Robert Booy, Martin L. Hibberd, Sheila Kondaveeti, Simon Nadel, and Michael Levin
- Subjects
Microbiology (medical) ,Pediatrics ,medicine.medical_specialty ,Heterozygote ,Genotype ,IgA Vasculitis ,Meningococcal disease ,Pathogenesis ,immune system diseases ,Risk Factors ,hemic and lymphatic diseases ,medicine ,Factor V Leiden ,Humans ,Risk factor ,Child ,business.industry ,Factor V ,Disseminated Intravascular Coagulation ,medicine.disease ,Meningococcal Infections ,Infectious Diseases ,Pediatrics, Perinatology and Child Health ,Mutation ,Factor V Leiden mutation ,Intravascular thrombosis ,Complication ,business ,Purpura fulminans - Abstract
One of the most serious complications of meningococcal disease is the syndrome of purpura fulminans, which is characterized by intravascular thrombosis and hemorrhagic infarction of skin, limbs and digits. The reasons why some patients with meningococcal disease develop purpura fulminans while others have minimal thrombotic and skin involvement despite having profound septic shock are not yet understood. The Factor V Leiden mutation (FV(L)) is associated with thrombotic events, and we hypothesized that children carrying FV(L) who develop meningococcal disease may be at increased risk of purpura fulminans.We determined the FV(L) genotype by PCR and restriction enzyme digestion (Mnl1) in 259 children with meningococcal disease and 80 healthy controls. In addition 79 parents of children with fatal meningococcal disease were studied.There was no significant increase in the frequency of FV(L) in patients with meningococcal disease (10%) as compared with healthy controls (9%) or with the parents of children who died of meningococcal disease (12%). Although the mortality was not increased in patients heterozygous for FV(L), they had increased complications of purpura fulminans, as assessed by requirement for skin grafting, referral to plastic surgeon and/or amputation. Among survivors 5 of 24 (21%) of those heterozygous for FV(L) had complications, compared with 14 of 233 (7%) who were wild type [P0.03; relative risk, 3.1 (95% confidence intervals, 1.2 to 7.9)].FV(L) exacerbates purpura fulminans in meningococcal disease but does not have a significant effect on mortality.
- Published
- 1999
389. Genetic markers to predict polygenic disease: a new problem for social genetics
- Author
-
G.A.A. Ferns and David J. Galton
- Subjects
Adult ,Employment ,Genetic Markers ,Risk ,Multifactorial Inheritance ,Disease ,Cystic fibrosis ,Prenatal Diagnosis ,medicine ,Dementia ,Humans ,Genetic Testing ,Muscular dystrophy ,Gene–environment interaction ,Genetics ,Insurance, Health ,Polymorphism, Genetic ,business.industry ,Genetic Diseases, Inborn ,General Medicine ,DNA ,medicine.disease ,Blastocyst ,Insurance, Life ,Genetic marker ,Mutation (genetic algorithm) ,Factor V Leiden mutation ,business ,Prejudice - Abstract
Many genetic markers that relate to common multifactorial disease in adults have been identified during the past 15 years. Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has begun, good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridaemia and the apolipoprotein E4 variant for Alzheimer's dementia. However, extensive gene–gene and gene–environment interactions make their use more complex than markers for the simpler monogenic disorders (such as cystic fibrosis, or Duchennne's muscular dystrophy). Possible misapplication of the genetic markers for multifactorial disease in the fields of risk prediction, direct sales to the public, life assurance, employment rights, and legislation for regulation of their use are discussed.
- Published
- 1999
390. Is inherited thrombophilia a risk factor for arterial stroke?
- Author
-
Kennedy Cr
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Heterozygote ,Protein S Deficiency ,Adolescent ,Enzyme-Linked Immunosorbent Assay ,Brain Ischemia ,Inherited thrombophilias ,Correspondence ,medicine ,Prevalence ,Humans ,Point Mutation ,Risk factor ,Young adult ,Inherited thrombophilia ,Child ,Stroke ,Hypoprothrombinemias ,Retrospective Studies ,business.industry ,Infant ,Protein C Deficiency ,medicine.disease ,Psychiatry and Mental health ,Child, Preschool ,Surgery ,Female ,Neurology (clinical) ,Factor V Leiden mutation ,Factor V Deficiency ,business - Abstract
To investigate the prevalence of currently recognised inherited prothrombotic states in a population of children with arterial stroke.Children with arterial stroke presenting to a tertiary level paediatric neurology centre between 1990 and 1996 were investigated for inherited prothrombotic states.Sixty seven children with arterial stroke were investigated. Abnormalities were initially identified in 16 patients; however, only eight children (12%) had an inherited prothrombotic state. This was type 1 protein S deficiency in one patient, the factor V Leiden mutation in six, and activated protein C resistance (without the factor V Leiden mutation) in one. The prevalence of the factor V Leiden mutation was not significantly higher in children with arterial stroke (12%) than in a control population of children without thrombosis attending the same institution (5.2%; Fisher's exact test, p=0.19; difference in prevalence between patients and controls (95% confidence interval)=6.8% (-2.78% to 16.8%)).Currently recognised inherited prothrombotic tendencies were rarely associated with stroke in this group of children, although larger numbers of patients would be needed to confirm this. Age appropriate normal values should be used when interpreting the results of a prothrombotic screen. Prothrombotic abnormalities seen acutely are as often transient as inherited. Longitudinal assessment and family studies are required before low concentrations of an anticoagulant protein found acutely can be attributed to an inherited abnormality.
- Published
- 1999
391. Factor V Leiden mutation: a nursing perspective
- Author
-
Marjorie J. Page
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,MEDLINE ,Nursing ,Patient Education as Topic ,Pregnancy ,Risk Factors ,Thromboembolism ,Medicine ,Humans ,Point Mutation ,cardiovascular diseases ,Genetic Testing ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Factor V ,medicine.disease ,Primary Prevention ,Medical–Surgical Nursing ,Increased risk ,Transgender hormone therapy ,Mutation (genetic algorithm) ,Female ,Factor V Leiden mutation ,business ,Venous thromboembolism - Abstract
The factor V Leiden mutation is a recently described autosomal dominant genetic risk factor for venous thromboembolism (VTE). Persons who are heterozygous or homozygous for this disorder are at 4 to 7 times and 50 to 100 times increased risk, respectively, for VTE. In particular, women have unique challenges because the presence of the Leiden mutation in combination with pregnancy or use of oral contraceptives results in an even greater increased risk for VTE. This article will review the factor V Leiden mutation, its association with VTE, and the genetic inheritance pattern and ethnic distribution. Oral contraceptive use, pregnancy, and hormone replacement therapy in women with the Leiden mutation will be discussed. Screening issues and management for all patients, and women in particular, will be addressed. Nursing implications for care management of this group of patients is complex and requires evaluation of the significance of newly defined genetic disorders such as the factor V Leiden mutation. Nurses need to be knowledgeable about genetic screening, risk factors, risk-reduction counseling, and considerations for long-term therapy, which include quality of life issues. Two case studies exemplify many of the issues that will be discussed.
- Published
- 1999
392. The prevalence of factor V Leiden mutation in patients with leg ulcers and venous insufficiency
- Author
-
K. Hamulyak, D. J. Tazelaar, M. B. Maessen-Visch, N. H. C. M. N. Crombag, and H. A. M. Neumann
- Subjects
Adult ,Male ,medicine.medical_specialty ,Chronic venous insufficiency ,Population ,Dermatology ,Gastroenterology ,Polymerase Chain Reaction ,Gene Frequency ,Internal medicine ,Factor V Leiden ,Coagulopathy ,Prevalence ,Medicine ,Humans ,Point Mutation ,education ,Aged ,Aged, 80 and over ,education.field_of_study ,business.industry ,Leg Ulcer ,Case-control study ,Factor V ,General Medicine ,DNA ,Middle Aged ,medicine.disease ,Dyskeratosis ,Surgery ,Venous thrombosis ,Venous Insufficiency ,Case-Control Studies ,Chronic Disease ,Female ,Factor V Leiden mutation ,business - Abstract
Objectives To study the prevalence of factor V Leiden mutation in patients with chronic venous insufficiency and venous leg ulcers, compared with a control group, and to find out whether factor V Leiden mutation is more frequent in patients with chronic venous insufficiency and a history of deep venous thrombosis. Design A case control study. Setting Three outpatient dermatological clinics. Patients Ninety-two patients (37 men, 55 women) with venous leg ulcers and 53 control patients (23 men, 30 women). Main Outcome Measure Factor V Leiden mutation. Results Factor V Leiden mutation was significantly more frequent in patients with chronic venous insufficiency and venous leg ulcers than in the control group (23% vs 7.5%; P =.03), and the patients with factor V Leiden mutation were more likely to have a history of venous thromboembolism (91% vs 48%, P =.002). Also, recurrent deep venous thrombosis (38% vs 14%) and recurrent leg ulcerations (9 episodes or more) occurred more frequently in the patients with factor V Leiden mutation (43% vs 19%, P =.01). No difference was observed in venous refill time or in the presence of dermatoliposclerosis and atrophie blanche. Conclusions Factor V Leiden mutation is more frequent in patients with venous leg ulceration than in the control group and the general population. Patients with factor V Leiden mutation have an increased risk of developing deep venous thrombosis and recurrent leg ulceration.
- Published
- 1999
393. Low rate of venous thromboembolism in asymptomatic relatives of probands with factor V Leiden mutation
- Author
-
Paolo Prandoni, Paolo Simioni, and Antonio Girolami
- Subjects
Proband ,medicine.medical_specialty ,business.industry ,Genetic Carrier Screening ,Factor V ,General Medicine ,medicine.disease ,Thrombosis ,Asymptomatic ,Gastroenterology ,Genetic determinism ,Surgery ,Thromboembolism ,Internal medicine ,Mutation ,Internal Medicine ,medicine ,Factor V Leiden ,Humans ,Factor V Leiden mutation ,medicine.symptom ,business ,Venous thromboembolism ,Follow-Up Studies ,Cohort study - Published
- 1999
394. P1749 Detection of the Factor V Leiden mutation in septic patients
- Author
-
S. Grachev, V. Beloborodov, E. Gorodnova, and V. Malov
- Subjects
Microbiology (medical) ,Infectious Diseases ,business.industry ,Medicine ,Pharmacology (medical) ,General Medicine ,Factor V Leiden mutation ,business ,Virology - Published
- 2007
395. JAK2V617F mutation as a marker of a latent myeloproliferative disorder in a patient with Budd-Chiari syndrome and factor V Leiden mutation
- Author
-
Gema Plumé, Francisco Orbis, Fernando Ferrando, Yolanda Mira, and Amparo Vayá
- Subjects
Adult ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pathology ,Budd-Chiari Syndrome ,Thrombophilia ,Gastroenterology ,Fatal Outcome ,Risk Factors ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Factor V Leiden ,Humans ,Genetic Predisposition to Disease ,cardiovascular diseases ,Jak2v617f mutation ,Myeloproliferative Disorders ,business.industry ,Vascular biology ,Factor V ,Hematology ,Janus Kinase 2 ,medicine.disease ,Pedigree ,nervous system diseases ,Mutation ,embryonic structures ,Mutation (genetic algorithm) ,Budd–Chiari syndrome ,Female ,Factor V Leiden mutation ,Portasystemic Shunt, Transjugular Intrahepatic ,Venous disease ,business - Abstract
JAK2V617F mutation as a marker of a latent myeloproliferative disorder in a patient with Budd-Chiari syndrome and factor V Leiden mutation
- Published
- 2007
396. The Use of Central Neuraxial Techniques in Parturients with Factor V Leiden Mutation
- Author
-
D.H. Chestnut
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,Medicine ,Factor V Leiden mutation ,business - Published
- 2007
397. Thrombomodulin levels in Behçet's disease with and without the factor V Leiden mutation
- Author
-
L. Mesci, Serafettin Kirazli, Aysel Gürler, A. F. Oner, and Aytemiz Gurgey
- Subjects
Male ,medicine.medical_specialty ,Thrombomodulin ,Enzyme-Linked Immunosorbent Assay ,Behcet's disease ,Gastroenterology ,Sensitivity and Specificity ,Statistics, Nonparametric ,Rheumatology ,Reference Values ,Internal medicine ,Factor V Leiden ,Medicine ,Humans ,Chi-Square Distribution ,biology ,business.industry ,Behcet Syndrome ,Factor V ,General Medicine ,medicine.disease ,Immunology ,Mutation (genetic algorithm) ,Mutation ,biology.protein ,Female ,Factor V Leiden mutation ,business ,Chi-squared distribution - Abstract
The plasma levels of thrombomodulin (TM) in 34 patients with Behcet's disease and 79 healthy control subjects were studied. Eight patients had the factor V Leiden (FVL) mutation. The TM level was significantly lower in patients with the FVL mutation than in patients without the mutation and in the healthy controls (p
- Published
- 1998
398. Internal jugular vein thrombosis in association with the factor V Leiden mutation
- Author
-
P. Arullendran, P. Jani, D. A. Moffat, and T. Baglin
- Subjects
Pathology ,medicine.medical_specialty ,Internal jugular vein thrombosis ,medicine ,Factor V Leiden ,Humans ,Point Mutation ,Internal jugular vein ,biology ,Vascular disease ,business.industry ,Factor V ,Thrombosis ,General Medicine ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Radiography ,Otorhinolaryngology ,Mutation (genetic algorithm) ,biology.protein ,Female ,Factor V Leiden mutation ,Jugular Veins ,business - Abstract
We report an unusual case of internal jugular vein thrombosis in a 57-year-old female, with the recently discovered factor V Leiden (FVR506Q) mutation. The molecular basis of this mutation is described, and the importance of screening for hereditary venous thrombotic states is emphasized.
- Published
- 1998
399. Sensitivity, specificity and predictive value of modified assays for activated protein C resistance in children
- Author
-
Greg Brandt, Ann Pillow, Ping Wang, Ralph A. Gruppo, Ann Becker, Davis Stroop, and Charles J. Glueck
- Subjects
Adolescent ,Concordance ,Population ,Drug Resistance ,Sensitivity and Specificity ,Predictive Value of Tests ,Factor V Leiden ,medicine ,Cutoff ,Humans ,education ,Child ,education.field_of_study ,biology ,business.industry ,Factor V ,Infant ,Hematology ,medicine.disease ,Predictive value ,Molecular biology ,Child, Preschool ,Immunology ,biology.protein ,Factor V Leiden mutation ,Blood Coagulation Tests ,Activated protein C resistance ,business ,Protein C - Abstract
SummaryVery little data is available assessing the clinical utility of coagulation-based APC resistance assays compared to DNA-based analysis for the factor V Leiden mutation in children. Therefore, the clinical utility of four aPTT-based assays for APC resistance was evaluated in 169 children, ages 3 months through 16 years. The prevalence of the Arg506 to Gln mutation was 7/169 (4.1%). Using cutoff points derived from the normal PCR-screened population (n = 162), two assays for APC resistance (APC-SR and n-APC-SR) gave poor concordance with the PCR assay (sensitivity 29% and 57%, respectively). Two modified assays (FDAPC-SR and n-FDAPC-SR), in which patient plasma was prediluted 1:5 in factor V deficient plasma, gave excellent concordance (sensitivity 100%). The predictive value of a positive test was 0.25, 0.44, 1.00 and 0.88 for the APC-SR, n-APC-SR, FDAPC-SR and n-FDAPC-SR, respectively. The FDAPC-SR and n-FDAPC-SR tests gave excellent discrimination using cutoff values derived from the total population (n = 169) without regard to previous PCR screening results.
- Published
- 1998
400. Kinky vessels and double joints: Useful clues for childhood stroke?
- Author
-
Meredith R. Golomb and Heather J. Fullerton
- Subjects
Pediatrics ,medicine.medical_specialty ,Heart disease ,business.industry ,Disease ,Childhood stroke ,medicine.disease ,Protein C deficiency ,Etiology ,Medicine ,cardiovascular diseases ,Neurology (clinical) ,Factor V Leiden mutation ,Vascular pathology ,business ,Stroke - Abstract
Despite recent advances in our understanding of pediatric arterial ischemic stroke, the etiology of many cases remains elusive: in up to 22% of cases in hospital series no cause is found1 (table). While congenital heart disease and sickle cell disease account for a large proportion of childhood strokes, stroke is rarely the first presenting feature of these diseases, and thus they seldom explain a stroke in an otherwise healthy child. Prothrombotic risk factors such as protein C deficiency and the Factor V Leiden mutation have been associated with childhood stroke, but are only modest risk factors that alone provide an incomplete explanation. Vascular pathology, however, has been increasingly implicated …
- Published
- 2006
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