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Hemophilia A and B

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https://www.readbyqxmd.com/read/28731872/bleeding-risk-assessment-in-hemophilia-a-carriers-from-dakar-senegal
#1
Moussa Seck, Blaise F Faye, Abibatou Sall, Diariétou Sy, Sokhna A Touré, Nata Dieng, Youssou B Guéye, Macoura Gadji, Awa O Touré, Cathérine Costa, Dominique Lasne, Chantal Rothschild, Saliou Diop
: Hemophilia A carriers have an abnormal X chromosome with a molecular abnormality of FVIII gene. These carriers, long considered to be free of bleeding risk, could have the same symptoms as mild hemophiliacs. This study aim to assess bleeding risk of hemophilia A carriers monitored at the Clinical Hematology of Dakar. This is a prospective study of a period of 6 months including 22 hemophilia A carriers aged between 8 and 48 years. Hemophilia carriers were recruited using the genealogical tree of hemophiliacs followed in the service...
July 20, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28725275/ash-meeting-2016-developments-in-hemostaseology
#2
REVIEW
Clemens Feistritzer, Birgit Mosheimer
During the annual meeting of the American Society of Hematology (ASH) in San Diego/California, novel developments in the field of hemostaseology were presented. Alternative treatment strategies besides factor replacement were discussed for patients with hemophilia. One of the highlights of the meeting in this year's plenary session was the presentation of successful adeno-associated virus mediated gene transfer in patients with hemophilia B leading to sustained elevation of factor IX:C (FIX:c). Other alternative treatment approaches in patients with hemophilia A may include bispecific antibodies mimicking factor VIIIa (FVIIIa) activity or disrupting anticoagulant proteins...
2017: Memo
https://www.readbyqxmd.com/read/28716211/to-serve-and-protect-the-modulatory-role-of-von-willebrand-factor-on-factor-viii-immunogenicity
#3
REVIEW
Robin B Hartholt, Alice S van Velzen, Ivan Peyron, Anja Ten Brinke, Karin Fijnvandraat, Jan Voorberg
Hemophilia A is a bleeding disorder characterized by the absence or dysfunction of blood coagulation factor VIII (FVIII). Patients are treated with regular infusions of FVIII concentrate. In response to treatment, approximately 30% of patients with severe hemophilia A develop inhibitory antibodies targeting FVIII. Both patient and treatment related risk factors for inhibitor development have been described. Multiple studies comparing the immunogenicity of recombinant and plasma-derived FVIII have yielded conflicting results...
July 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28691885/targeting-of-antithrombin-in-hemophilia-a-or-b-with-rnai-therapy
#4
K John Pasi, Savita Rangarajan, Pencho Georgiev, Tim Mant, Michael D Creagh, Toshko Lissitchkov, David Bevan, Steve Austin, Charles R Hay, Inga Hegemann, Rashid Kazmi, Pratima Chowdary, Liana Gercheva-Kyuchukova, Vasily Mamonov, Margarita Timofeeva, Chang-Heok Soh, Pushkal Garg, Akshay Vaishnaw, Akin Akinc, Benny Sørensen, Margaret V Ragni
Background Current hemophilia treatment involves frequent intravenous infusions of clotting factors, which is associated with variable hemostatic protection, a high treatment burden, and a risk of the development of inhibitory alloantibodies. Fitusiran, an investigational RNA interference (RNAi) therapy that targets antithrombin (encoded by SERPINC1), is in development to address these and other limitations. Methods In this phase 1 dose-escalation study, we enrolled 4 healthy volunteers and 25 participants with moderate or severe hemophilia A or B who did not have inhibitory alloantibodies...
July 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28691557/emicizumab-prophylaxis-in-hemophilia-a-with-inhibitors
#5
Johannes Oldenburg, Johnny N Mahlangu, Benjamin Kim, Christophe Schmitt, Michael U Callaghan, Guy Young, Elena Santagostino, Rebecca Kruse-Jarres, Claude Negrier, Craig Kessler, Nancy Valente, Elina Asikanius, Gallia G Levy, Jerzy Windyga, Midori Shima
Background Emicizumab (ACE910) bridges activated factor IX and factor X to restore the function of activated factor VIII, which is deficient in persons with hemophilia A. This phase 3, multicenter trial assessed once-weekly subcutaneous emicizumab prophylaxis in persons with hemophilia A with factor VIII inhibitors. Methods We enrolled participants who were 12 years of age or older. Those who had previously received episodic treatment with bypassing agents were randomly assigned in a 2:1 ratio to emicizumab prophylaxis (group A) or no prophylaxis (group B)...
July 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28688133/in-silico-evaluation-of-limited-blood-sampling-strategies-for-individualized-recombinant-factor-ix-prophylaxis-in-hemophilia-b-patients
#6
T Preijers, H C A M Hazendonk, K Fijnvandraat, F W G Leebeek, M H Cnossen, R A A Mathôt
BACKGROUND: Patients with severe hemophilia B regularly administer prophylactic intravenous doses of clotting factor IX (FIX) concentrate to maintain a trough level of at least 0.01 IUmL(-1) in order to prevent joint bleeds. Assessment of individual pharmacokinetic (PK) parameters allows individualization of the recombinant FIX (rFIX) dose. AIM: This in silico study aims to evaluate the predictive performance of limited sampling strategies (LSSs) with 1 to 3 samples to estimate individual PK parameters of rFIX...
July 8, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28685500/rituximab-for-treating-inhibitors-in-people-with-inherited-severe-hemophilia
#7
REVIEW
Lucan Jiang, Yi Liu, Lingli Zhang, Cristina Santoro, Armando Rodriguez
BACKGROUND: Hemophilia A and B are inherited coagulation disorders characterized by a reduced or absent level of factor VIII or factor IX respectively. The severe form is characterized by a factor level less than 0.01 international units (IU) per milliliter. The development of inhibitors in hemophilia is the main complication of treatment, because the presence of these antibodies, reduces or even nullifies the efficacy of replacement therapy, making it very difficult to control the bleeding...
July 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28677246/factor-xi-deficient-mice-exhibit-increased-bleeding-after-injury-to-the-saphenous-vein
#8
C Ay, Y Hisada, B Cooley, N Mackman
BACKGROUND: Factor XI (FXI) is a key component of the intrinsic pathway of coagulation. It can be activated by either FXIIa or thrombin and amplifies thrombin generation during clot formation. Congenital FXI deficiency in humans (known as hemophilia C) is associated with bleeding after hemostatic challenge. However, to date there are no reports of excess bleeding in FXI deficient mice. OBJECTIVES: To determine if the absence of FXI in mice prolongs bleeding in different models...
July 4, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28662249/hemophilic-arthropathy
#9
Christopher R Nacca, Andrew P Harris, John R Tuttle
The musculoskeletal manifestations of hemophilia A and B are some of the most common presenting symptoms and continue to be challenging to practitioners. Hemophilic arthropathy, if not initially adequately treated and managed, may lead to debilitating disease and eventually require the consideration of major surgery, including total joint arthroplasty. Thorough comprehension of the pathophysiology, diagnosis, and both medical and surgical interventions is critical in establishing an appropriate treatment regimen for these patients...
June 29, 2017: Orthopedics
https://www.readbyqxmd.com/read/28655282/causes-of-death-among-379-patients-with-hemophilia-a-developing-country-s-report
#10
Hassan Mansouritorghabeh, Hossein Rahimi, Seyed Tahereh Mohades, Maryam Behboudi
There are steps to achieve an optimum life for patients with hemophilia in developing countries, and awareness of the pattern of death in patients with hemophilia is a prerequisite for any health-care program. Owing to the lack of any data on the pattern of death in patients with hemophilia from developing countries, the current study was done to address common causes of death, and the spectrum of causes of death among individuals with hemophilia A and B. To address the pattern of death in northeast of Iran, we retrospectively collected demographic data regarding deceased patients with hemophilia A and B...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28648306/cost-benefit-analysis-and-assessment-of-quality-of-care-in-patients-with-hemophilia-undergoing-treatment-at-national-rural-health-mission-in-maharashtra-india
#11
Priyanka Singh, Kanchan Mukherjee
BACKGROUND: Hemophilia is a genetic disorder with high health care burden. In India, most patients with hemophilia seek care through self-purchasing factor concentrate and incur huge out-of-pocket (OOP) expenditure. In March 2013, the government of India launched a pilot hematology program through the National Rural Health Mission for providing free treatment services to patients with hemophilia in the state of Maharashtra. OBJECTIVES: To estimate the benefit-cost ratio of the program from a patient perspective, to estimate reduction in OOP expenditure of the patients and their families, and to assess the quality of care delivered and the barriers to access care among patients with hemophilia...
May 2017: Value in Health Regional Issues
https://www.readbyqxmd.com/read/28634557/dental-management-of-a-child-with-incidentally-detected-hemophilia-report-of-a-clinical-case
#12
Ricardo Martínez-Rider, Arturo Garrocho-Rangel, Raúl Márquez-Preciado, María Victoria Bolaños-Carmona, Socorro Islas-Ruiz, Amaury Pozos-Guillén
Children with hemophilia (A or B) are at risk for bleeding episodes, which rank from mild mucosal/soft tissues bleeding to life-threatening hemorrhages. This report describes the dental/medical management provided to an 8.10-year-old patient suffering from uncontrolled bleeding after a surgical procedure to expose both permanent upper central incisors, in which hemophilia was a pure incidental finding. Additionally, diverse precautions to be considered during the dental clinical treatment of hemophilic children are discussed...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28628105/identification-of-liver-specific-enhancer-promoter-activity-in-the-3-untranslated-region-of-the-wild-type-aav2-genome
#13
Grant J Logan, Allison P Dane, Claus V Hallwirth, Christine M Smyth, Emilie E Wilkie, Anais K Amaya, Erhua Zhu, Neeta Khandekar, Samantha L Ginn, Sophia H Y Liao, Sharon C Cunningham, Natsuki Sasaki, Martí Cabanes-Creus, Patrick P L Tam, David W Russell, Leszek Lisowski, Ian E Alexander
Vectors based on adeno-associated virus type 2 (AAV2) are powerful tools for gene transfer and genome editing applications. The level of interest in this system has recently surged in response to reports of therapeutic efficacy in human clinical trials, most notably for those in patients with hemophilia B (ref. 3). Understandably, a recent report drawing an association between AAV2 integration events and human hepatocellular carcinoma (HCC) has generated controversy about the causal or incidental nature of this association and the implications for AAV vector safety...
June 19, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28612430/igg-subclasses-of-fviii-inhibitors-in-an-argentine-cohort-of-severe-hemophilia-a-patients-analysis-by-flow-cytometry
#14
M B Irigoyen, L Primiani, M Felippo, M Candela, M M E de Bracco, N V Galassi
INTRODUCTION: FVIII inhibitors consist of a polyclonal population of antibodies. Previous studies have demonstrated different distribution of IgG subclasses. IgG4 was associated to high level of FVIII inhibitors and failure of immune tolerance induction (ITI) treatment. This study monitored the relative distribution of IgG subclasses of anti-FVIII in patients with severe hemophilia A (SHA). METHODS: Anti-FVIII antibodies were measured employing an immunomethod, developed in our laboratory, that combines flow cytometry (FC) with microspheres coupled (FVIII-m) or not (Control-m) to FVIII...
June 14, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28599169/modifiers-of-clinical-phenotype-in-severe-congenital-hemophilia
#15
Massimo Franchini, Pier Mannuccio Mannucci
Patients with inherited hemophilia A and B usually exhibit a bleeding tendency of a severity proportional to the degree of plasmatic deficiency of the coagulant activity of factor VIII (FVIII:C) and factor IX (FIX:C). Although patients with severe hemophilia (i.e., with FVIII:C and FIX:C levels <1IU/dL) are generally those with the most severe bleeding phenotype, it is common experience that a variable proportion of them experiences a milder bleeding tendency. In this review, we summarize the current knowledge on the possible mechanisms at the basis of the phenotypic heterogeneity of severe hemophilia, focusing in particular on the role of FVIII/FIX gene mutations and thrombophilic polymorphisms...
June 1, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28598970/seroprevalence-and-clinical-characteristics-of-viral-hepatitis-in-transfusion-dependent-thalassemia-and-hemophilia-patients
#16
Tyng-Yuan Jang, Pei-Chin Lin, Ching-I Huang, Yu-Mei Liao, Ming-Lun Yeh, Yu-Sheng Zeng, Po-Cheng Liang, Wan-Yi Hsu, Shih-Pien Tsai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Chia-Yen Dai, Chung-Feng Huang, Shyh-Shin Chiou, Wan-Long Chuang, Ming-Lung Yu
BACKGROUND/AIMS: Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. METHODS: A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance...
2017: PloS One
https://www.readbyqxmd.com/read/28565740/-retrospectively-analysis-of-the-difference-of-bleeding-frequency-and-hemophilic-arthropathy-between-hemophilia-a-and-hemophilia-b-patients
#17
S X Wang, Y Guan, Y B Nie, H Y Li, B Y Sun, X Y Wang, R C Yang
Objective: To analyze the difference of bleeding frequency, plain radiographic (X-ray) , risk factors in hemophilic arthropathy progression and the Arnold-Hilgartner classification. Methods: A retrospective study was conducted in 211 hemophilia patients hospitalized in our medical center between January 2007 and December 2010, some patients with hemarthrosis were followed up for 5 years. Results: All patients were male, including 150 hemophilia A (HA) and 61 hemophilia B (HB) . The HA patients bled more frequently than HB patients with annualized total bleeding rate 20...
May 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28561280/anti-fc%C3%AE-riib-cd32-antibodies-differentially-modulate-murine-fviii-specific-recall-response-in-vitro
#18
Nadine Vollack, Julia Friese, Sabine Bergmann, Mark S Cragg, Andreas Tiede, Sonja Werwitzke
Fc gamma receptors (FcγRs) for IgG regulate adaptive immune responses by modulating activating and inhibitory signaling pathways within immune cells. Data from a hemophilia A mouse model demonstrate that genetic deletion or blockade of the inhibitory FcγR (CD32) suppresses the formation of antibody secreting cells (ASCs) in vitro. Mechanisms preventing the FVIII-specific recall response, however, remain unclear. Here, the potential role of CD32 inhibition was studied by differentially modulating receptor activity with selected anti-CD32 monoclonal antibodies (mAbs)...
May 31, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28556675/a-new-modeling-approach-allowing-prediction-and-comparison-of-the-long-term-outcomes-of-treatments-for-hemophilia-b
#19
Marjolijn van Keep, Christina Stentoft Hoxer, Matthew Hemstock, Andreas Velsing Groth, Christopher Knight
AIM: To develop a modeling approach to compare clinical outcomes of nonacog beta pegol to a standard-acting factor IX (FIX) product. METHODS: Regression analysis linked FIX activity to bleed rates. Pharmacokinetic parameters were used to estimate FIX activity over time. The probability of bleeds was estimated for both treatment arms. A Markov model estimated the presence of target joints and annualized bleed rates (ABRs). RESULTS: Higher FIX activity showed reduced ABRs (p < 0...
May 30, 2017: Journal of Comparative Effectiveness Research
https://www.readbyqxmd.com/read/28550974/eliminating-hiv-1-packaging-sequences-from-lentiviral-vector-proviruses-enhances-safety-and-expedites-gene-transfer-for-gene-therapy
#20
Conrad A Vink, John R Counsell, Dany P Perocheau, Rajvinder Karda, Suzanne M K Buckley, Martijn H Brugman, Melanie Galla, Axel Schambach, Tristan R McKay, Simon N Waddington, Steven J Howe
Lentiviral vector genomic RNA requires sequences that partially overlap wild-type HIV-1 gag and env genes for packaging into vector particles. These HIV-1 packaging sequences constitute 19.6% of the wild-type HIV-1 genome and contain functional cis elements that potentially compromise clinical safety. Here, we describe the development of a novel lentiviral vector (LTR1) with a unique genomic structure designed to prevent transfer of HIV-1 packaging sequences to patient cells, thus reducing the total HIV-1 content to just 4...
May 17, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
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