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https://www.readbyqxmd.com/read/28804848/laboratory-testing-for-von-willebrand-factor-factor-viii-binding-for-2n-vwd
#1
Soma Mohammed, Emmanuel J Favaloro
Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. The current paper describes a protocol for assessment of VWF activity by means of VWF: factor VIII binding (VWF:FVIIIB)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804837/detection-and-measurement-of-factor-inhibitors
#2
Geoffrey Kershaw
Specific coagulation factor inhibitors, most notably to coagulation factor VIII, can develop in patients with hemophilia after exposure to replacement factor or as an acquired (autoimmune) event. Such inhibitors can be detected by a combination of prolonged coagulation screening tests, such as the activated partial thromboplastin time, plus a non-correcting mixing test. Non-correction may only be evident, or else may be extenuated, with incubation at 37 °C. The Bethesda assay for quantitation of inhibitor strength is based on a combination of mixing tests followed by specific factor assays...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804835/chromogenic-factor-viii-assays-for-improved-diagnosis-of-hemophilia-a
#3
Susan Rodgers, Elizabeth Duncan
Hemophilia A is an inherited bleeding disorder caused by a reduced level of factor VIII coagulant activity (FVIII:C) in blood. Bleeding episodes may occur spontaneously in the severe form of hemophilia or after trauma in the milder forms. It is important that patients are diagnosed correctly, which includes placing them into the correct severity category of the disorder so that appropriate treatment can be given. Diagnosis is made by determination of the amount of FVIII:C in the blood, usually using a one-stage factor VIII:C assay...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804834/one-stage-factor-viii-assays
#4
Elizabeth Duncan, Susan Rodgers
Coagulation factor assays using one-stage methodology are widely used to measure factor levels for the purpose of detecting a deficiency, or to monitor replacement therapy. In this chapter, we focus on a method to measure Factor VIII coagulant activity (FVIII:C) by the one-stage assay (FVIII:C-1), with extra information provided to also allow this method to apply to Factor IX (FIX), Factor XI (FXI), and Factor XII (FXII). From the perspective of laboratory testing, these factors are components of the "intrinsic" coagulation pathway and are all measured in test systems based on the correction of the Activated Partial Thromboplastin Time (APTT)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804828/lupus-anticoagulant-testing-diluted-russell-viper-venom-time-drvvt
#5
Vittorio Pengo, Elisa Bison, Alessandra Banzato, Giacomo Zoppellaro, Seena Padayattil Jose, Gentian Denas
Diluted Russell Viper Venom Time (dRVVT) has become the most popular test to detect Lupus Anticoagulant (LA). dRVVT is more sensitive than other global tests employed to detect LA and is not affected by inhibitors of factor VIII or IX. The test is most successfully implemented if you observe three steps in its execution: screening, mixing, and confirmatory studies. Interference due to the presence of heparin in tested plasma must be excluded by means of thrombin time (TT). The prior use of Vitamin K Antagonists (VKAs) or Non-vitamin K Oral Anticoagulants (NOACs) must also be evaluated by means of International Normalized Ratio, or specific tests, respectively...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804826/assessment-of-hereditary-thrombophilia-performance-of-protein-s-ps-testing
#6
Richard A Marlar, Jana N Gausman
Protein S (PS) is a Vitamin K-dependent protein that functions as a cofactor for the regulation of the coagulation system. PS works in conjunction with Activated Protein C to inactivate factors V and VIII. PS circulates in plasma either complexed to the complement protein, C4b Binding Protein or unbound. The unbound (or free) component is the functional form for the regulation of the coagulation system. PS can be measured in plasma by functional activity, the free (or unbound form) or both free and bound fractions (Total PS)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804825/assessment-of-hereditary-thrombophilia-performance-of-protein-c-pc-testing
#7
Richard A Marlar, Jana N Gausman
Protein C (PC) is a plasma Vitamin K-dependent pro-enzyme protein that is synthesized in the liver. Upon activation, PC regulates the coagulation process by neutralizing the procoagulant activities of factors V and VIII in the presence of the cofactor Protein S. PC is a major regulator of the coagulation process. The clotting based Protein C assay, the protocol described in this chapter, quantitates the amount of functional PC present in the specimen in a proportional fashion based on the prolongation of the Activated Partial Thromboplastin Time (APTT)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#8
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804817/the-interface-between-immunotransfusion-and-hemostasis-and-thrombosis-testing
#9
Massimo Franchini
Increasing evidence supports the existence of a close relationship between immunotransfusion, hemostasis, and thrombosis. The best example of such linkage is given by the influence of the ABO blood group antigens on von Willebrand factor (VWF) plasma levels and activity. It is well known, for instance, that individuals with non-O blood type (i.e., A, B, and AB) have higher VWF and factor VIII plasma levels than O blood type subjects and are consequently exposed to an increased thrombotic risk. There is also a close relationship between immunotransfusion, hemostasis, and thrombosis testing...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28799202/immune-tolerance-induced-by%C3%A2-platelet-targeted-factor-viii-gene-therapy-in-hemophilia-a-mice-is-cd4%C3%A2-t-cell-mediated
#10
Y Chen, X Luo, J A Schroeder, J Chen, C K Baumgartner, J Hu, Q Shi
BACKGROUND: Immune responses are a major concern in gene therapy. Our previous studies demonstrated that platelet-targeted FVIII (2bF8) gene therapy together with in vivo drug-selection of transduced cells can rescue the bleeding diathesis and induce immune tolerance in FVIII(null) mice. OBJECTIVE: To investigate whether non-selectable 2bF8 lentiviral vector (LV) for the induction of platelet-FVIII expression is sufficient to induce immune tolerance and how immune tolerance is induced after 2bF8LV gene therapy...
August 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28795528/limit-of-detection-and-threshold-for-positivity-of-the-centers-for-disease-control-and-prevention-assay-for-factor-viii-inhibitors
#11
Connie H Miller, Brian Boylan, Amy D Shapiro, Steven R Lentz, Brian M Wicklund
BACKGROUND: The Bethesda assay (BA) for measurement of factor VIII (FVIII) inhibitors called for quantitation of positive inhibitors using dilutions producing 25-75% residual activity (RA), corresponding to 0.4-2.0 Bethesda units, recommending use of "more sensitive methods" for samples with RA closer to 100%. The Nijmegen modification (NBA) changed the reagents used but not these calculations. Some specimens negative by NBA have been shown to have FVIII antibodies detectable by sensitive immunologic methods...
August 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28793786/hemophilia-gene-therapy-ready-for-prime-time
#12
Thierry VandenDriessche, Marinee K L Chuah
Hemophilia A and B are congenital X-linked bleeding disorders caused by mutations in the genes encoding for the blood clotting factor VIII (FVIII) or factor IX (FIX), respectively. Since the beginning of gene therapy, hemophilia has been considered an attractive disease target that served as a trailblazer for the field at large. Different technologies have been explored to efficiently and safely deliver the therapeutic FVIII and FIX genes into the patients' cells. Currently, the most promising vectors for hemophilia gene therapy are adeno-associated viral vectors (AAV) and lentiviral vectors...
August 10, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28791655/current-and-emerging-options-for-the-management-of-inherited-von-willebrand-disease
#13
REVIEW
Jessica M Heijdra, Marjon H Cnossen, Frank W G Leebeek
Von Willebrand disease (VWD) is the most common inherited bleeding disorder with an estimated prevalence of ~1% and clinically relevant bleeding symptoms in approximately 1:10,000 individuals. VWD is caused by a deficiency and/or defect of von Willebrand factor (VWF). The most common symptoms are mucocutaneous bleeding, hematomas, and bleeding after trauma or surgery. For decades, treatment to prevent or treat bleeding has consisted of desmopressin in milder cases and of replacement therapy with plasma-derived concentrates containing VWF and Factor VIII (FVIII) in more severe cases...
August 8, 2017: Drugs
https://www.readbyqxmd.com/read/28769599/identification-of-people-with-acquired-hemophilia-in-a-large-electronic-health-record-database
#14
Michael Wang, Anissa Cyhaniuk, David L Cooper, Neeraj N Iyer
BACKGROUND: Electronic health records (EHRs) can provide insights into diagnoses, treatment patterns, and clinical outcomes. Acquired hemophilia (AH) is an ultrarare bleeding disorder characterized by factor VIII inhibiting autoantibodies. AIM: To identify patients with AH using an EHR database. METHODS: Records were accessed from a large EHR database (Humedica) between January 1, 2007 and July 31, 2013. Broad selection criteria were applied using the International Classification of Diseases, Ninth Revision, clinical modification (ICD-9-CM) code for intrinsic circulating anticoagulants (286...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/28767473/acquired-hemophilia-a-after-hepatic-yttrium-90-radioembolization-a-case-report
#15
Susanna Tribuzi, Alessia Naccarato, Lorella Pelagalli, Marco Covotta, Giulia Torregiani, Claudia Claroni, Ester Forastiere
Acquired hemophilia is a rare but potentially life-threatening bleeding disorder caused by the development of autoantibodies (inhibitors) directed against plasma coagulation factors, most frequently factor VIII. We report a case of a 65-year-old man with hepatocellular carcinoma who bled massively after a hepatic Yttrium-90 radioembolization procedure (Selective Internal Radiation Therapy with Yttrium-90 Resin Microspheres [SIRTex]). An acquired deficiency of factor VIII was diagnosed and successfully treated with recombinant activated factor VII and immunosuppression...
August 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28767195/minimal-dataset-for-post-registration-surveillance-of-new-drugs-in-hemophilia-communication-from-the-ssc-of-the-isth
#16
F Peyvandi, M Makris, P Collins, D Lillicrap, S W Pipe, A Iorio, F R Rosendaal
No abstract text is available yet for this article.
June 28, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28764183/acquired-inhibitor-of-factor-viii-presenting-as-delayed-wound-healing
#17
Sushma Nayar, Kishore Babu Esakkimuthu Parvathi, Mayilananthi Kaliannan, Premlatha Sivasailam
Acquired coagulation factor VIII inhibitor leads to a rare disease i.e., acquired haemophilia which is idiopathic in majority of cases and is seen with autoimmune diseases, haematologic and solid tumours, infections, in the post-partum period and also with certain long-term use of drugs like penicillin and its derivatives, phenytoin, sulfa antibiotics, chloramphenicol, methyldopa, chlorpromazine, levodopa, interferon-α, fludarabine, clopidogrel. We report a case here, with acquired Factor VIII (FVIII) inhibitor acquisition which presented with delayed wound healing as a result of protracted bleeding into the wound...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28763522/bone-haemophilic-pseudotumour-of-the-ulna-a-rare-complication-of-haemophilia-in-a-dog
#18
Adeline Decambron, Mathieu Manassero, Jean-Laurent Thibaud, Edouard Reyes-Gomez, Véronique Viateau
OBJECTIVES: This case report describes for the first time a bone haemophilic pseudotumour in a dog. CASE DESCRIPTION: A seven-month-old German Shepherd male dog was presented with the complaint of a forelimb weight-bearing lameness with major swelling that expanded dramatically after fine needle aspiration. Radiographs showed a large, well-defined ulnar diaphyseal cystic-like osteolytic lesion. Based on prolonged activated partial thromboplastin time (aPTT) and low factor VIII activity, haemophilia A was diagnosed...
August 1, 2018: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28756381/acquired-haemophilia-a-with-a-recalcitrant-high-titre-factor-viii-inhibitor-in-the-setting-of-interstitial-lung-disease
#19
Lova Sun, David B Sykes
Acquired haemophilia A (AHA) is a bleeding disorder that results from autoantibodies against factor VIII (FVIII). A 70-year-old man with a history of interstitial lung disease presented with spontaneous bleeding into his thigh. He had undetectable FVIII levels and a high-titre FVIII inhibitor (>2000ââ'¬â€°Bethesda units/mL) and was diagnosed with AHA. He had several relapses, required multiple haemostatic and immunosuppressive treatments but eventually achieved a stable remission after 2ââ'¬â€°years of therapy...
July 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28756021/association-of-clinical-severity-of-cystic-fibrosis-with-variants-in-the-slc-gene-family-slc6a14-slc26a9-slc11a1-and-slc9a3
#20
Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo, Fernando Augusto Lima Marson
INTRODUCTION: Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers. METHODS: The variants were identified by real-time-PCR in 188 CF patients considering the CFTR genotype...
July 26, 2017: Gene
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