10,287 results match your criteria Factor V


Congenital Factor V deficiency: perioperative management (case report).

Pan Afr Med J 2020 29;36:46. Epub 2020 May 29.

Anesthesia and Critical Care Department, 20 August Hospital, University Hospital Ibn Rochd, Casablanca, Morocco.

Factor V congenital deficiency is a rare hereditary disease, it exposes patients to hemorrhagic risk, with high morbi-mortality. Its management is a real challenge for practitioners. Perioperative management of patients with Factor V congenital deficiency needs anesthetists, hematologists and surgeons to work in close collaboration. Read More

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http://dx.doi.org/10.11604/pamj.2020.36.46.23561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7388638PMC

Inherited thrombophilia in mechanical valve malfunction.

Ann Cardiol Angeiol (Paris) 2020 Aug 6. Epub 2020 Aug 6.

CardioGenetics Research Center, Rajaei Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Mechanical valve malfunction due to thrombosis is an important and life-threatening complication in patients with prosthetic valves. Our study was performed to determine the prevalence of thrombophilia genes among patients with acute thrombosis of the mechanical pulmonary valves despite acceptable anticoagulation levels. In this cross-sectional comparative study thirthy two consecutive patients with acute thrombosis of pulmonary mechanical valve who had international normalized ratio (INR) levels for prothrombin time of at least 2 at the time of presentation and in the preceding three months were enrolled and the prevalence rates of thrombophilia factor genes among them was assessed. Read More

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http://dx.doi.org/10.1016/j.ancard.2020.07.003DOI Listing

Maternal inherited thrombophilia and pregnancy outcomes.

Exp Ther Med 2020 Sep 13;20(3):2411-2414. Epub 2020 May 13.

Department of Obstetrics and Gynecology, University Emergency Hospital of Bucharest, 050098 Bucharest, Romania.

Thrombophilia is a group of genetical disorders that cause blood to clot abnormally. Thrombophilia is linked to recurrent pregnancy loss, foetal growth restriction, late miscarriages, stillbirth and preeclampsia. Clinicians usually apply the term thrombophilia only to patients with atypical thrombosis. Read More

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http://dx.doi.org/10.3892/etm.2020.8747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401936PMC
September 2020

Thrombin generation abnormalities in Quebec platelet disorder.

Int J Lab Hematol 2020 Aug 6:e13302. Epub 2020 Aug 6.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.

Introduction: Calibrated automated thrombograms (CAT) with platelet-poor (PPP) and platelet-rich plasma (PRP) have provided useful insights on bleeding disorders. We used CAT to assess thrombin generation (TG) in Quebec platelet disorder (QPD)-a bleeding disorder caused by a PLAU duplication mutation that increases platelet (but not plasma) urokinase plasminogen activator (uPA), leading to intraplatelet (but not systemic) plasmin generation that degrades α-granule proteins and causes platelet (but not plasma) factor V (FV) deficiency.

Methods: Calibrated automated thrombograms was used to test QPD (n = 7) and control (n = 22) PPP and PRP, with or without added tranexamic acid (TXA). Read More

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http://dx.doi.org/10.1111/ijlh.13302DOI Listing

[Acquired factor V inhibitor].

Rinsho Ketsueki 2020 ;61(7):791-798

Department of Hematology, Kanazawa University Hospital.

Since acquired factor V inhibitor (FV-INH) has been first reported in Germany in 1955, about 200 cases have been recorded globally. The incidence of FV-INH is extremely low, with a rate of 0.023-0. Read More

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http://dx.doi.org/10.11406/rinketsu.61.791DOI Listing
January 2020

Use of hyperbaric oxygen therapy of purpura fulminans in an extremely low birth weight preterm: A case report.

J Neonatal Perinatal Med 2020 Jul 29. Epub 2020 Jul 29.

Department of Neonatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

Purpura fulminans (PF) is a rare and fatal complication of septic shock or diffuse intravascular coagulation (DIC) resulting in skin and soft tissue necrosis. PF can be caused by congenital or acquired protein C (PC) or protein S (PS) deficiency. The most common cause of PF in a neonate is sepsis. Read More

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http://dx.doi.org/10.3233/NPM-200428DOI Listing

Genetic risk factors for venous thromboembolism.

Expert Rev Hematol 2020 Jul 30. Epub 2020 Jul 30.

Center for Thrombosis and Haemostasis, Lund university, Skåne University Hospital , Malmö, Sweden.

Introduction: Venous thromboembolism (VTE) is a complex disease that aggregates in families. Both acquired and genetic risk factors are important. Proper recognition and management of high-risk individuals are important. Read More

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http://dx.doi.org/10.1080/17474086.2020.1804354DOI Listing

Assembly of alternative prothrombinase by extracellular histones initiate and disseminate intravascular coagulation.

Blood 2020 Jul 28. Epub 2020 Jul 28.

fRoald Dahl Haemostasis & Thrombosis Centre, Royal Liverpool University Hospital, Liverpool L7 8XP, UK., United Kingdom.

Thrombin generation is pivotal to both physiological blood clot formation and pathological development of disseminated intravascular coagulation (DIC). In critical illness, extensive cell damage can release histones into the circulation, which can increase thrombin generation and cause DIC, but the molecular mechanism is not clear. Typically, thrombin is generated by the prothrombinase complex, comprising activated factor X (FXa), activated co-factor V (FVa) and phospholipids to cleave prothrombin in the presence of calcium. Read More

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http://dx.doi.org/10.1182/blood.2019002973DOI Listing
July 2020
10.452 Impact Factor

Outcomes of left ventricular assist device implantation in hypercoagulable patients.

J Card Surg 2020 Jul 27. Epub 2020 Jul 27.

Division of Cardiac Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

Background: The aim of this study was to evaluate outcomes of left ventricular assist devices (LVADs) in patients who tested positive for hypercoagulable hematologic disorders.

Methods: Adults undergoing continuous-flow LVAD implantation with preoperative hypercoagulability testing between 2004 and 2018 at a single center were reviewed. Hypercoagulability was defined as testing positive for antiphospholipid antibody, anticardiolipin antibody, lupus anticoagulant, protein C, protein S, factor V Leiden, and/or heparin-induced thrombocytopenia. Read More

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http://dx.doi.org/10.1111/jocs.14710DOI Listing

Biomarkers of liver dysfunction correlate with a prothrombotic and not with a prohaemorrhagic profile in patients with cirrhosis.

JHEP Rep 2020 Aug 11;2(4):100120. Epub 2020 May 11.

Division of Hematology and Central Hematology Laboratory, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.

Background & Aims: Different liver dysfunction biomarkers are used to assess the bleeding risk of patients with cirrhosis, either as such or included in bleeding risk assessment scores. Since the current model of coagulation in patients with cirrhosis describes a procoagulant tendency with increasing severity according to Child-Pugh stage, we decided to investigate the relation between liver dysfunction biomarkers and thrombin generation. Our aim was to verify their adequacy for bleeding risk assessment. Read More

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http://dx.doi.org/10.1016/j.jhepr.2020.100120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369360PMC

Anticoagulant protein S - new insights on interactions and functions.

J Thromb Haemost 2020 Jul 23. Epub 2020 Jul 23.

Centre for Haematology, Imperial College London, London, UK.

Protein S is a critical regulator of coagulation that functions as a cofactor for the activated protein C (APC) and tissue factor pathway inhibitor (TFPI) pathways. It also has direct anticoagulant functions, inhibiting the intrinsic tenase and prothrombinase complexes. Through these functions, protein S regulates coagulation during both its initiation and its propagation phases. Read More

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http://dx.doi.org/10.1111/jth.15025DOI Listing

Successful correction of factor V deficiency of patient-derived iPSCs by CRISPR/Cas9-mediated gene editing.

Haemophilia 2020 Jul 22. Epub 2020 Jul 22.

Division of Hematology and Oncology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.

Background: Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells (iPSCs) from a FV-deficient patient and repaired the mutation of factor V gene (F5) using a clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9).

Methods: The patient's peripheral blood mononuclear cells were reprogrammed for iPSCs. Read More

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http://dx.doi.org/10.1111/hae.14104DOI Listing

Prolonged (post-thaw) shelf life of -80°C frozen AB apheresis plasma.

Transfusion 2020 Jul 21. Epub 2020 Jul 21.

Department of Surgery, Alrijne Medical Center, Leiderdorp, The Netherlands.

Background: Early plasma transfusion is important in the treatment of patients with major hemorrhage. Prolonged shelf life of AB type frozen -80°C and cold-stored (4°C) deep frozen plasma (DFP) will improve strategic stock management, minimize need for resupply, and make pre-hospital implementation more feasible.

Methods And Materials: Plasma products type AB of different age and origin (-30°C Fresh Frozen [(FFP], -80°C DFP [short (±1 year) and long (±7 year)] stored) were thawed (Day 0), stored at 4°C, and sampled on Days 7 and 14. Read More

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http://dx.doi.org/10.1111/trf.15963DOI Listing

Acquired factor V inhibitors after allogeneic hematopoietic stem cell transplantation in a dog.

J Vet Intern Med 2020 Jul 20. Epub 2020 Jul 20.

VCA West Los Angeles - Oncology, Los Angeles, California, USA.

Objective: Describe the clinical course and management of a dog that underwent hematopoietic stem cell transplantation (HSCT) for treatment of B-cell lymphoma and developed acquired circulating factor V (FV) inhibitors.

Case Summary: An 8-year-old male castrated Briard dog diagnosed with lymphoma (IVb, B-cell) presented for allogeneic HSCT. Despite multiple platelet, fresh frozen plasma, and red blood cell transfusions prolonged recovery and clinical bleeding occurred. Read More

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http://dx.doi.org/10.1111/jvim.15845DOI Listing

Illustrated State-of-the-Art Capsules of the ISTH 2020 Congress.

Res Pract Thromb Haemost 2020 Jul 12;4(5):680-713. Epub 2020 Jul 12.

Department of Cell and Developmental Biology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA.

The 2020 Congress of the International Society of Thrombosis and Haemostasis (ISTH) was held virtually July 12-15, 2019, due to the coronavirus disease 2019 pandemic. The congress convenes annually to discuss clinical and basic topics in hemostasis and thrombosis. Each year, the program includes State of Art (SOA) lectures given by prominent scientists. Read More

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http://dx.doi.org/10.1002/rth2.12368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354406PMC

Platelet-primed interactions of coagulation and anticoagulation pathways in flow-dependent thrombus formation.

Sci Rep 2020 Jul 17;10(1):11910. Epub 2020 Jul 17.

Departments of Biochemistry and Internal Medicine, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre+, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.

In haemostasis and thrombosis, platelet, coagulation and anticoagulation pathways act together to produce fibrin-containing thrombi. We developed a microspot-based technique, in which we assessed platelet adhesion, platelet activation, thrombus structure and fibrin clot formation in real time using flowing whole blood. Microspots were made from distinct platelet-adhesive surfaces in the absence or presence of tissue factor, thrombomodulin or activated protein C. Read More

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http://dx.doi.org/10.1038/s41598-020-68438-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368055PMC

Comparative Platelet Releasate Proteomic Profiling of Acute Coronary Syndrome versus Stable Coronary Artery Disease.

Front Cardiovasc Med 2020 24;7:101. Epub 2020 Jun 24.

Universitätsklinikum Tübingen, Medizinische Klinik III, Kardiologie und Kreislauferkrankungen, Tübingen, Germany.

Upon activation, platelets release a host of soluble and vesicular signals, collectively termed the "platelet releasate" (PR). The contents of this PR play a significant role in haemostasis, inflammation, and pathologic . Despite this, proteomic studies investigating the PR in coronary artery disease have not been performed. Read More

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http://dx.doi.org/10.3389/fcvm.2020.00101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328343PMC

A Rare Complication of Peritoneal Dialysis (PD) Catheter: Perforation of Sigmoid Colon by Migrating Tip of Peritoneal Dialysis Catheter.

Am J Case Rep 2020 Jul 16;21:e922828. Epub 2020 Jul 16.

Department of Pediatrics, Division of Pediatric Nephrology, University of Mississippi Medical Center, Jackson, MS, USA.

BACKGROUND Peritoneal dialysis (PD) has benefits over hemodialysis (HD), including the ability of daily performance at home without interfering with important activities such as school attendance in children. However, there are risks and complications associated with it. This is the third pediatric case report of a dormant PD catheter tip perforating the colon and protruding through the anus, but without peritonitis, as would be highly expected. Read More

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http://dx.doi.org/10.12659/AJCR.922828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7386830PMC

Paroxysmal atrial fibrillation is associated with early coagulation activity regardless of risk factors for embolism.

Minerva Cardioangiol 2020 Jul 10. Epub 2020 Jul 10.

Section of Cardiology, Department of Cardiology, Second City Hospital of Sofia, Sofia, Bulgaria.

Background: Paroxysmal atrial fibrillation (PAF) is associated with an increased incidence of embolic events, even in patients with no embologenic risk factors. This fact raises the question for the hypercoagulability in PAF as a state closely related to the arrhythmia itself, independent of other well established embologenic risk factors. The scarce data on that topic predisposed our aim that was to study coagulation activity in the early hours (up to the twenty-fourth hour) of the disease. Read More

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http://dx.doi.org/10.23736/S0026-4725.20.05209-3DOI Listing

Association of Factor V Leiden With Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data.

Circulation 2020 Aug 13;142(6):546-555. Epub 2020 Jul 13.

Institute of Cardiovascular Science and UCL BHF Research Accelerator, Faculty of Population Health Science, University College London, United Kingdom (A.F.S., L.J.H., K.D., J.D., A.D.H., F.W.A., R.S.P.).

Background: Studies examining the role of factor V Leiden among patients at higher risk of atherothrombotic events, such as those with established coronary heart disease (CHD), are lacking. Given that coagulation is involved in the thrombus formation stage on atherosclerotic plaque rupture, we hypothesized that factor V Leiden may be a stronger risk factor for atherothrombotic events in patients with established CHD.

Methods: We performed an individual-level meta-analysis including 25 prospective studies (18 cohorts, 3 case-cohorts, 4 randomized trials) from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) consortium involving patients with established CHD at baseline. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.045526DOI Listing
August 2020
14.430 Impact Factor

How Much Is the Inevitable Loss of Different Coagulation Factors During Blood Product-Free Liver Transplantations?

Transplant Proc 2020 Jul 8. Epub 2020 Jul 8.

Department of Transplantation and Surgery, Semmelweis University, Budapest, Hungary.

Background: Bloodless liver transplantations (LT) have already been reported, but special characteristics of hemostatic changes remain less defined. The aim of this study was to evaluate the "inevitable" loss of coagulation factors (CF) in blood product-free LT.

Methods: Blood product and CF concentrate-free LT patient data were analyzed in terms of the first 2 days of perioperative hemostasis kinetics (N = 59). Read More

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http://dx.doi.org/10.1016/j.transproceed.2020.05.006DOI Listing

Profile of natural anticoagulant, coagulant factor and anti-phospholipid antibody in critically ill COVID-19 patients.

J Thromb Thrombolysis 2020 Jul 9. Epub 2020 Jul 9.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 1# Shuai Fu Yuan, Beijing, 100730, China.

The outbreak of novel coronavirus disease 2019 (COVID-19) has now become a global pandemic. Coagulopathy has been reported widely in critically ill COVID-19 patients and was related to high mortality. However, the comprehensive coagulation profiles have not been examined and the underlying mechanism of the coagulopathy in COVID-19 patients is unclear. Read More

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http://dx.doi.org/10.1007/s11239-020-02182-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346854PMC

Thrombophilia associated gene polymorphisms: Does use of medication, including anti-coagulants, minerals or folic acid, prevent the miscarriages?

J Reprod Immunol 2020 Jun 22;141:103172. Epub 2020 Jun 22.

Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus; Near East University, DESAM Institute, Nicosia, Cyprus. Electronic address:

Objective: Recurrent pregnancy loss (RPL) has been associated with thrombophilia. The use of prophylactic treatments against thrombophilia becomes necessary in order to increase the live birth rates in women with RPL. The aim of this study was to genotype thrombophilia associated polymorphisms and investigates the benefit of prophylactic treatment on the clinical pregnancy outcomes of women with specific genotypes of these polymorphisms. Read More

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http://dx.doi.org/10.1016/j.jri.2020.103172DOI Listing

The effects of genetic polymorphisms and diabetes mellitus on the development of peripheral artery disease.

Turk Kardiyol Dern Ars 2020 Jul;48(5):484-493

Department of Cardiology, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.

Objective: Peripheral artery disease (PAD) is a condition caused by the narrowing of limb arteries due to atherosclerosis. In recent years, polymorphisms in a number of genes have been shown to contribute to the risk of PAD development. However, whether the contribution of these inheritable factors is independent of traditional cardiovascular risk factors remains unclear. Read More

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http://dx.doi.org/10.5543/tkda.2020.15686DOI Listing

The genetics of venous thromboembolism: a systematic review of thrombophilia families.

J Thromb Thrombolysis 2020 Jul 4. Epub 2020 Jul 4.

China-Japan Friendship Hospital, Capital Medical University, NO 2, East Yinghua Road, Chaoyang District, Beijing, 100029, China.

Genetic risk factors are important for the occurrence and prognosis of venous thromboembolism (VTE). The studies of thrombophilia families are important for dissecting the genetic background of the thrombotic disease. We conducted the systematic review of all published family-based studies on VTE genetics across all racial groups through PubMed and Embase prior to 13th April 2020. Read More

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http://dx.doi.org/10.1007/s11239-020-02203-7DOI Listing

-acetylcysteine as a treatment for amatoxin poisoning: a systematic review.

Clin Toxicol (Phila) 2020 Jul 1:1-8. Epub 2020 Jul 1.

Department of Emergency Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, People's Republic of China.

Amatoxin leads to the majority of deaths by mushroom poisoning around the world. Amatoxin causes gastrointestinal disturbances and multiple organ dysfunction, including liver and renal failure. As a potential treatment for amatoxin poisoning, -acetylcysteine (NAC) has been used for decades but its benefit is still unproven. Read More

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http://dx.doi.org/10.1080/15563650.2020.1784428DOI Listing
July 2020
3.122 Impact Factor

[Localization of Soil Wind Erosion Dust Emission Factor in Beijing].

Huan Jing Ke Xue 2020 Jun;41(6):2609-2616

National Engineering Research Center of Urban Environmental Pollution Control, Beijing Municipal Research Institute of Environmental Protection, Beijing 100037, China.

Soil wind erosion dust is one of the primary sources of fine particulate matter (PM). Compared with the fugitive dust emission inventory of typical domestic provinces and cities, we found that the maximum among the contribution rates of soil wind erosion dust to the local total fugitive dust PM emission inventory was about 4 orders of magnitude higher than the minimum. This study provided a wind erosion equation and a determination method of parameter values. Read More

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http://dx.doi.org/10.13227/j.hjkx.201908243DOI Listing

Choked Vein: Unusual Etiology of Extensive Deep Vein Thrombosis.

Cureus 2020 May 26;12(5):e8292. Epub 2020 May 26.

Internal Medicine, LewisGale Medical Center, Roanoke, USA.

Deep venous thrombosis (DVT) is a commonly encountered diagnosis in clinical practice with a variety of established risk factors. Inferior vena cava atresia (IVCA) is a rare vascular anomaly, but an established risk factor, associated with DVT, found in approximately 5% of cases of unprovoked lower extremity DVT in young adults. Patients who develop DVT are at high risk of long-term complications, including DVT recurrence and post-thrombotic syndrome. Read More

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http://dx.doi.org/10.7759/cureus.8292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317119PMC

Factor V Leiden 1691G > A mutation and the risk of recurrent pregnancy loss (RPL): systematic review and meta-analysis.

Thromb J 2020 24;18:11. Epub 2020 Jun 24.

Department of Hematology, Faculty of Medical Sciences, Tarbiat Modares University, North Kargar Av, Tehran, 14117 Iran.

Background: Although numerous replication case-control studies have attempted to determine the association between Factor V Leiden (FVL) 1691G > A mutation and susceptibility to Recurrent pregnancy loss (RPL), there have been confliction among the results of various ethnic groups. To address this limitation, here we implemented first meta-analysis to provide with consistent conclusion of the association between FVL 1691G > A mutation and RPL risk.

Methods: After a systematic literature search, pooled odds ratio (OR) and their corresponding 95% confidence interval (CI) were used to evaluate the strength of the association. Read More

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http://dx.doi.org/10.1186/s12959-020-00224-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313225PMC

The influence of packed cell volume versus plasma proteins on thromboelastographic variables in canine blood.

J Vet Emerg Crit Care (San Antonio) 2020 Jul 25;30(4):418-425. Epub 2020 Jun 25.

Consultation Services Director, ANTECH Diagnostics, Raleigh, North Carolina.

Objective: Determine the correlation between kaolin-activated thromboelastography (TEG) variables (R, K, angle, and maximum amplitude [MA]) and PCV, fibrinogen concentration (FC), and total fibrinogen (TF) in an ex vivo model.

Animals: Two healthy adult mixed-breed dogs.

Procedures: Citrated whole blood was obtained and separated into packed red cells, platelet rich plasma, and platelet poor plasma (PPP). Read More

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http://dx.doi.org/10.1111/vec.12979DOI Listing

Genetic risk factors for venous thromboembolism among infertile men with Klinefelter syndrome.

J Clin Transl Endocrinol 2020 Jun 19;20:100228. Epub 2020 May 19.

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Background: Klinefelter syndrome (KS) is one of the commonest sex chromosome disorders. Affected males become infertile and highly susceptible to several health problems, including vascular thromboembolism (VTE). The risk of VTE may be exacerbated by an underlying genetically inherited thrombophilia. Read More

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http://dx.doi.org/10.1016/j.jcte.2020.100228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303976PMC

Loop-mediated isothermal amplification (LAMP)-based method for detecting factor V Leiden and factor II G20210A common variants.

J Thromb Thrombolysis 2020 Jun 15. Epub 2020 Jun 15.

UOSD e di Ricerca di Emostasi e Trombosi, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, FG, Italy.

Automated methodologies allowing for rapid detection of Factor V Leiden and Factor II G20210A variants are desirable, due to a high number of tested patients. Here, we report a preliminary validation of a CE-marked in vitro diagnostic (IVD) certified method for simultaneous detection of Factor V Leiden and Factor II G20210A variants on whole blood samples. The novel method is based on Loop-mediated isothermal AMPlification (LAMP) applied for a duplex detection of Factor V Leiden and Factor II G20210A variants without requiring prior DNA extraction, whereas the routine one is a TaqMan SNP genotyping targeting genomic DNA. Read More

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http://dx.doi.org/10.1007/s11239-020-02183-8DOI Listing

Coexisting Diseases in Patients with Familial Mediterranean Fever.

Open Access Rheumatol 2020 28;12:65-71. Epub 2020 May 28.

Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.

Background And Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database.

Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or mutations enrolled the study. Read More

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http://dx.doi.org/10.2147/OARRR.S252071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266519PMC

Analysis of thrombophilic gene mutations in coronary artery ectasia.

Turk Kardiyol Dern Ars 2020 Jun;48(4):368-373

Departments of Cardiology, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.

Objective: Coronary artery ectasia (CAE) is defined as localized or diffuse dilatation in the coronary artery lumen of at least 1.5 times the diameter of adjacent healthy reference segments. The etiology of CAE is still unknown, but the most likely cause is atherosclerosis. Read More

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http://dx.doi.org/10.5543/tkda.2019.99789DOI Listing

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.

Thromb Res 2020 May 28;193:36-39. Epub 2020 May 28.

Department of Biochemistry and Molecular Biology, Penn State College of Medicine, Hershey, PA, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.05.044DOI Listing

Factor VII Deficiency in Patients Receiving Chronic Packed Cell Transfusions.

J Pediatr Hematol Oncol 2020 Jun 9. Epub 2020 Jun 9.

Department of Pediatric Hematology Oncology, Saban Pediatric Medical Center, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel.

Acquired factor VII deficiency is a rare coagulopathy that has not been reported in transfusion-dependent patients so far. In this study, we reviewed files of 26 transfusion-dependent patients for coagulation profiles, factor V levels, factor VII levels, possible environmental factors influencing factor VII levels, and bleeding history. In 26 of 29 patients (89. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001854DOI Listing
June 2020
0.956 Impact Factor

[Successful management of acquired factor V deficiency developing shortly after induction of hemodialysis].

Rinsho Ketsueki 2020 ;61(5):445-450

Department of Hematology, Gunma University Graduate School of Medicine.

Autoimmune factor V deficiency (AiF5D) is caused by autoantibodies to coagulation factor V (FV); its clinical manifestations range from asymptomatic to fatal hemorrhage. Herein, we report the case of a 68-year-old man who was diagnosed with end-stage renal disease at the time of a femoral fracture and developed AiF5D after initiating hemodialysis. A wound infection that occurred after joint replacement was treated with antibiotics; however, it was poorly controlled. Read More

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http://dx.doi.org/10.11406/rinketsu.61.445DOI Listing

Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.

Clin Pharmacol Ther 2020 Jun 4. Epub 2020 Jun 4.

Division of Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.

Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). Few studies have investigated the association of common variants with this extreme reaction, but none have explored the combined influence of rare variants yet. Adjudicated cases of ACEI-induced angioedema (ACEI-AE) or ARB-induced angioedema (ARB-AE) and controls were recruited at five different centers. Read More

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http://dx.doi.org/10.1002/cpt.1927DOI Listing

The Procoagulant Snake Venom Serine Protease Potentially Having a Dual, Blood Coagulation Factor V and X-Activating Activity.

Toxins (Basel) 2020 May 29;12(6). Epub 2020 May 29.

Department of Molecular and Biomedical Sciences, Jožef Stefan Institute, Jamova cesta 39, SI-1000 Ljubljana, Slovenia.

A procoagulant snake venom serine protease was isolated from the venom of the nose-horned viper (). This 34 kDa glycoprotein, termed SP-VX, possesses five kDa N-linked carbohydrates. Amino acid sequencing showed SP-VX to be a chymotrypsin-like serine protease. Read More

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http://dx.doi.org/10.3390/toxins12060358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354534PMC

A prospective observational study of acute traumatic coagulopathy in traumatic bleeding from the battlefield.

Transfusion 2020 Jun 1;60 Suppl 3:S52-S61. Epub 2020 Jun 1.

St Thomas' Hospital, Thrombosis & Haemophilia Centre & Thrombosis and Vascular Biology Group, London, UK.

Background: Acute trauma coagulopathy (ATC) after military trauma has not been comprehensively studied. ATC is defined as a prolonged prothrombin time ratio (PTr) or reduced clot amplitude (A5) in viscoelastic testing. Compared to civilian trauma, military trauma has more injuries from explosions and gunshot wounds (GSWs), potentially leading to a different pathophysiology for traumatic coagulopathy. Read More

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http://dx.doi.org/10.1111/trf.15658DOI Listing

Serum proteomics analysis of feline mammary carcinoma based on label-free and PRM techniques.

J Vet Sci 2020 May;21(3):e45

College of Animal Science and Veterinary Medicine, Heilongjiang Bayi Agricultural University, Daqing 163319, China.

Background: Feline mammary carcinoma is the third most common cancer that affects female cats.

Objectives: The purpose of this study was to screen differential serum proteins in feline and clarify the relationship between them and the occurrence of feline mammary carcinoma.

Methods: Chinese pastoral cats were used as experimental animals. Read More

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http://dx.doi.org/10.4142/jvs.2020.21.e45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263907PMC

Association between factor V Leiden mutation and recurrent pregnancy loss in the middle east countries: a Newcastle-Ottawa meta-analysis.

Arch Gynecol Obstet 2020 Aug 29;302(2):345-354. Epub 2020 May 29.

Department of Laboratory Medicine and Pathology, University of Alberta, WMC 5B4.09, 8440 112 ST NW, Edmonton, AB, Canada.

Purpose: Heritable thrombophilia is a category of genetic disorders of the coagulation cascade with the increasing risk of thrombus formation and recurrent pregnancy loss (RPL). Factor V Leiden (FVL) (R506Q) mutation is the most common genetic cause of deep venous thrombosis, but its association with RPL has been inconsistent in studies arising from non-Western countries. The present metanalysis was aimed to determine whether an association exists between FVL and RPL in the Middle East. Read More

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http://dx.doi.org/10.1007/s00404-020-05610-6DOI Listing

Inherited Risk Factors of Thromboembolic Events in Patients with Primary Nephrotic Syndrome.

Medicina (Kaunas) 2020 May 19;56(5). Epub 2020 May 19.

Department of Uronephrology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Venous thromboembolic events (VTEs) are among the most important complications of nephrotic syndrome (NS). We conducted a study that aimed to determine the prevalence of inherited risk factors for VTE in NS and to identify which factors are independent predictors of VTE. Thirty-six consecutive patients with primary NS that underwent percutaneous kidney biopsy between January 2017 and December 2017 were enrolled in this retrospective, observational study. Read More

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http://dx.doi.org/10.3390/medicina56050242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279319PMC

Interaction of thrombophilic SNPs in patients with unexplained infertility-multifactor dimensionality reduction (MDR) model analysis.

J Assist Reprod Genet 2020 Jun 13;37(6):1449-1458. Epub 2020 May 13.

Scientific Research Center for Biomedicine, Faculty of Medicine, University of Nis, Nis, Serbia.

Purpose: Our aim was to evaluate the frequency and SNP-SNP interactions between factor V Leiden (FVL) G1691A, prothrombin G20210A mutation, and C677T MTHFR and PAI-1 4G/5G gene polymorphisms in female IVF patients with unexplained infertility (UI) by using a multifactor dimensionality reduction (MDR) model analysis.

Methods: A total of 225 subjects were enrolled in the study. There were 105 females in UI group and 120 healthy controls. Read More

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http://dx.doi.org/10.1007/s10815-020-01808-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311584PMC

What could be the most advantageous therapeutic approach to avoid both arterial and venous thrombosis in hyperhomocysteinemia?

Curr Cardiol Rev 2020 May 10. Epub 2020 May 10.

Department of Internal Medicine,"L. Vanvitelli" Campania University-Naples. Italy.

Dear Editor, Thrombophilia is the tendency to form blood clots both in arteries and veins [1]. Inherited and acquired high plasma homocysteine (HHcy) levels are judged as thrombophilic agents because can induce both arterial and venous thrombosis [2-5]. But, the association of hHHcy with Venous Thromboembolism (VTE) has been studied less extensively than that with arterial thrombosis. Read More

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http://dx.doi.org/10.2174/1573403X16666200511085701DOI Listing

ABO Blood Groups and Thrombophilia Markers in Patients With Unstimulated Thrombosis in Kurdistan Region of Iraq.

Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620922913

Department of Surgery, College of Medicine, University of Sulaymaniyah, Iraq.

Thromboembolism (TE) is a complex disease caused by various acquired and inherited factors. The common mutations; factor V Leiden G1691A (FVL G1691A), prothrombin G20210A (PTG20210A), and methylene tetrahydrofolate reductase C677T (MTHFR C677T) are important inherited causes in both venous and arterial thrombosis. The association between ABO blood groups and thrombophilia has been noted by researchers. Read More

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http://dx.doi.org/10.1177/1076029620922913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7370555PMC

Genetic testing costs and compliance with clinical best practices.

J Genet Couns 2020 May 1. Epub 2020 May 1.

Department of Obstetrics and Gynecology, Naval Medical Center San Diego, San Diego, California.

We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution. A cost analysis was performed comparing the costs of ordered tests to the cost of the recommended testing. This was an approved quality improvement project at a tertiary teaching hospital in California. Read More

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http://dx.doi.org/10.1002/jgc4.1285DOI Listing

[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):505-508

Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Objective: To explore the genetic basis for a consanguineous pedigree affected with inherited coagulation factor V deficiency.

Methods: Genomic DNA was extracted from peripheral blood samples from the pedigree and subjected to next generation sequencing for screening variants of the F5 gene. Suspected pathogenic variant was verified by using Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.003DOI Listing

Heritable thrombophilia test utilization and cost savings following guideline-based restrictions: An interrupted time series analysis.

Thromb Res 2020 06 12;190:79-85. Epub 2020 Apr 12.

School of Pharmacy, Memorial University of Newfoundland, St. John's, Canada. Electronic address:

Objective: Existing guidelines provide indications for appropriate heritable thrombophilia (HT) testing but testing practices often do not conform to these guidelines. The Canadian province of Newfoundland and Labrador (NL) implemented a new 'hard-stop' guideline-based approach to HT testing whereby tests ordered outside specific guidelines were rejected. The objective of this study was to evaluate the effectiveness of this intervention and the associated cost savings. Read More

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http://dx.doi.org/10.1016/j.thromres.2020.04.012DOI Listing