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Hemophilia A and B

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https://www.readbyqxmd.com/read/29222310/novel-alternate-hemostatic-agents-for-patients-with-inhibitors-beyond-bypass-therapy
#1
REVIEW
Margaret V Ragni
Inhibitor formation is among the most severe complications of hemophilia treatment. With a cumulative incidence of ∼30% in those with severe hemophilia A and ∼3% in those with severe hemophilia B, inhibitors are caused by a T-cell response directed against infused coagulation factor; these inhibitors neutralize factor VIII or IX activity and disrupt normal hemostasis. Inhibitor patients become unresponsive to standard factor treatment and, as an alternative, use bypass treatment (eg, recombinant factor VIIa or factor VIII inhibitor bypass activity)...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222308/hemophilia-gene-therapy-comes-of-age
#2
REVIEW
Lindsey A George
Concurrent with the development of recombinant factor replacement products, the characterization of the F9 and F8 genes over 3 decades ago allowed for the development of recombinant factor products and made the hemophilias a target disease for gene transfer. The progress of hemophilia gene therapy has been announced in 3 American Society of Hematology scientific plenary sessions, including the first "cure" in a large animal model of hemophilia B in 1998, first in human sustained vector-derived factor IX activity in 2011, and our clinical trial results reporting sustained vector-derived factor IX activity well into the mild or normal range in 2016...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29215814/safety-and-efficacy-of-b-domain-deleted-third-generation-recombinant-factor-viii-greengene-f%C3%A2-in-korean-patients-with-hemophilia-a-data-from-a-post-marketing-surveillance-study
#3
Soon Ki Kim, Ki Young Yoo, Kun Soo Lee, Taiju Hwang, Yong Mook Choi, Eun Jin Choi, Sang Kyu Park
BACKGROUND: New B-domain deleted third generation recombinant factor VIII (FVIII; GreenGene F™, beroctocog alfa) was launched in 2010. We determined safety and efficacy of GreenGene F™ during routine clinical practice in patients with hemophilia A over a period of 12 months. METHODS: From July 2010 to July 2014, a total of 136 hemophilia A patients were enrolled in a post-marketing surveillance (PMS) study. Among them, 134 patients were assessed for drug safety and 114 patients were analyzed for drug efficacy...
January 1, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29211678/hemophilia-b-gene-therapy-with-a-high-specific-activity-factor-ix-variant
#4
Lindsey A George, Spencer K Sullivan, Adam Giermasz, John E J Rasko, Benjamin J Samelson-Jones, Jonathan Ducore, Adam Cuker, Lisa M Sullivan, Suvankar Majumdar, Jerome Teitel, Catherine E McGuinn, Margaret V Ragni, Alvin Y Luk, Daniel Hui, J Fraser Wright, Yifeng Chen, Yun Liu, Katie Wachtel, Angela Winters, Stefan Tiefenbacher, Valder R Arruda, Johannes C M van der Loo, Olga Zelenaia, Daniel Takefman, Marcus E Carr, Linda B Couto, Xavier M Anguela, Katherine A High
BACKGROUND: The prevention of bleeding with adequately sustained levels of clotting factor, after a single therapeutic intervention and without the need for further medical intervention, represents an important goal in the treatment of hemophilia. METHODS: We infused a single-stranded adeno-associated viral (AAV) vector consisting of a bioengineered capsid, liver-specific promoter and factor IX Padua (factor IX-R338L) transgene at a dose of 5×1011 vector genomes per kilogram of body weight in 10 men with hemophilia B who had factor IX coagulant activity of 2% or less of the normal value...
December 7, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29178638/living-with-a-rare-disorder-a-systematic-review-of-the-qualitative-literature
#5
REVIEW
Charlotte von der Lippe, Plata S Diesen, Kristin B Feragen
BACKGROUND: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. METHODS: We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29178312/total-hip-arthroplasty-in-hemophilia-patients-a-mid-term-to-long-term-follow-up
#6
Guo-Liang Wu, Ji-Liang Zhai, Bin Feng, Yan-Yan Bian, Chi Xu, Xi-Sheng Weng
OBJECTIVE: To report the results of mid-term to long-term follow-up after primary total hip arthroplasty (THA) in hemophiliacs and to hypothesize that THA can provide satisfactory outcomes in these patients. METHODS: Twenty-four primary THA performed in 21 hemophilia patients between 2002 and 2012 were reviewed retrospectively, including 20 cases of hemophilia A and 1 case of hemophilia B. The standard lateral approach was used for all implantations. Substitution therapy for factor VIII and activated prothrombin complex concentrates were administered to patients with hemophilia A and B, respectively...
November 2017: Orthopaedic Surgery
https://www.readbyqxmd.com/read/29172774/trenonacog-alfa-for-prophylaxis-on-demand-and-perioperative-management-of-hemophilia-b
#7
Yvonne Brennan, Jennifer Curnow, Emmanuel J Favaloro
Current treatment for hemophilia B involves replacing the missing coagulation factor IX (FIX) with either plasma-derived or recombinant (r) FIX. Trenonacog alfa is the third normal half-life rFIX that has been granted FDA approval. Area covered: In this review, the authors examine trenonacog alfa for the treatment of hemophilia B including prophylaxis, on-demand and perioperative hemostasis. They compare the PK profile to nonacog alfa and evaluate the drug's efficacy and safety from published studies. Expert opinion: Trenonacog alfa appears to be an effective and safe treatment option for patients with hemophilia B with a PK profile similar to that of nonacog alfa...
November 26, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29165739/inhibitors-in-patients-with-congenital-bleeding-disorders-other-than-hemophilia
#8
Massimo Franchini, Giuseppe Marano, Carlo Mengoli, Vanessa Piccinini, Simonetta Pupella, Stefania Vaglio, Giancarlo Maria Liumbruno
The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively. Inhibitors compromise the management of hemorrhage in affected patients, with a considerable increase in complications, disability, and costs. While these alloantibodies have been extensively studied in the past years in hemophilia A and B, those occurring in patients with other inherited bleeding disorders are less well characterized and still poorly understood, mostly due to the rarity of these hemorrhagic conditions...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29150153/-dermatologic-surgery-hemophilia-and-von-willebrand-disease
#9
M Say, N Dupin, N Stieltjes, M-F Avril, S Aractingi, J Chanal
BACKGROUND: Von Willebrand disease (VWD) and hemophilia A and B are the most common types of hereditary coagulation-factor deficiencies. The frequency and type of complications of skin surgery in these patients are unknown. The increasing incidence of skin cancer prompted us to reflect upon this issue. While the incidence of skin cancer is increasing, the complications of skin surgery or ablative laser treatment remain unknown in this population. AIM: The aim of this study was to determine the frequency of bleeding complications during and after skin surgery in patients with a hereditary coagulation-factor deficiency (hemophilia or VWD)...
November 14, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29119666/estimating-and-interpreting-the-pharmacokinetic-profiles-of-individual-patients-with-hemophilia%C3%A2-a-or-b-using-a-population-pharmacokinetic-approach-communication-from-the-ssc-of-the-isth
#10
A Iorio, V Blanchette, J Blatny, P Collins, K Fischer, E Neufeld
No abstract text is available yet for this article.
October 12, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29109275/engineering-of-a-membrane-triggered-activity-switch-in-coagulation-factor-viia
#11
Anders L Nielsen, Anders B Sorensen, Heidi L Holmberg, Prafull S Gandhi, Johan Karlsson, Jens Buchardt, Kasper Lamberth, Mads Kjelgaard-Hansen, Carsten Dan Ley, Brit B Sørensen, Wolfram Ruf, Ole H Olsen, Henrik Østergaard
Recombinant factor VIIa (FVIIa) variants with increased activity offer the promise to improve the treatment of bleeding episodes in patients with inhibitor-complicated hemophilia. Here, an approach was adopted to enhance the activity of FVIIa by selectively optimizing substrate turnover at the membrane surface. Under physiological conditions, endogenous FVIIa engages its cell-localized cofactor tissue factor (TF), which stimulates activity through membrane-dependent substrate recognition and allosteric effects...
November 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29106404/strategy-to-detect-pre-existing-immunity-to-aav-gene-therapy
#12
L Falese, K Sandza, B Yates, S Triffault, S Gangar, B Long, L Tsuruda, B Carter, C Vettermann, S J Zoog, S Fong
Gene therapy may offer a new treatment option, particularly for patients with severe hemophilia, based on recent research. However, individuals with pre-existing immunity to adeno-associated viruses (AAVs) may be less likely to benefit from AAV vector-based therapies. To study pre-existing AAV5 immunity in humans, we validated two complementary, sensitive, and scalable in vitro assays to detect AAV5 total antibodies and transduction inhibition (TI). Using these two assays, we found that 53% of samples from 100 healthy male individuals were negative in both assays, 18% were positive in both assays, 5% were positive for total antibodies but negative for TI and, of interest, 24% were negative for total antibodies but positive for TI activity, suggesting the presence of non-antibody‒based neutralizing factors in human plasma...
November 6, 2017: Gene Therapy
https://www.readbyqxmd.com/read/29103812/long-term-results-of-total-elbow-arthroplasty-in-patients-with-hemophilia
#13
Lukas Ernstbrunner, Andreas Hingsammer, Mohamed A Imam, Reto Sutter, Brigit Brand, Dominik C Meyer, Karl Wieser
HYPOTHESIS: It was hypothesized that the long-term survivorship and clinical outcome are reasonable, justifying total elbow arthroplasty (TEA) in patients with end-stage hemophilic arthropathy. METHODS: From 2002 to 2012, 13 primary TEAs (Coonrad-Morrey design) were implanted in 9 consecutive patients with an average age of 55 (range, 39-76) years. Type A hemophilia was diagnosed in 7 patients and type B hemophilia in 2 patients. Clinical and radiographic results of all (11 TEAs) but 1 patient were retrospectively analyzed...
November 3, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/29095073/surgical-management-of-haemophilic-pseudotumors-experience-in-a-developing-country
#14
Yu He, Xi Zhou, Haomin Cui, Guixing Qiu, Xisheng Weng, Baozhong Zhang, Yong Liu
AIM: Hemophilic pseudotumors result from repeated episodes of bleeding into bone, subperiosteum, and soft tissue. Since clotting factors became available, uncontrolled perioperative bleeding is a less significant problem for surgeons in developed countries. However, they are more difficult to come by in China. Additionally, patients often have to undergo surgery for giant masses and suffer complications. We wanted to present our experience in the surgical management of hemophilic pseudotumors over a 40-year period...
November 2, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/29081190/-immune-tolerance-induction-in-a-case-of-hemophilia-b-with-inhibitor-with-prothrombin-complex-concentrate-and-rituximab
#15
F Xue, W Liu, Y F Cheng, X F Liu, Y T Huang, R F Fu, L Zhang, R C Yang
Objective: To explore the immune tolerance induction (ITI) in a case of severe hemophilia B patient with inhibitor. Methods: The F Ⅸ∶C was detected using a one-stage method and FIX inhibitor was assayed using Bethesda method. ITI was performed with prothrombin complex concentrates (PCC) in combination with rituximab. Results: His past exposure days (ED) with PCC were 20 ED and his peak FⅨ inhibitor titer was 56 BU/ml. When his FIX inhibitor titer decreased to 10.4 BU/ml in Nov. 2015 and after receiving the informed consent from his parents, ITI was started...
September 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29071228/assay-of-desmopressin-acetate-in-nasal-spray-development-of-validated-pre-column-hplc-fluorescence-method
#16
Neeraj Upmanyu, Pawan Kumar Porwal
Purpose: Desmopressin acetate (DDAPV), a synthetic analogue of vasopressin, has been recommended to be used in diabetes insipidus, mild forms of hemophilia and Von Willebrand disease. The DDAPV is available for adminstration via different routes viz. oral, parenteral and nasal, however its dose is very less in case of nasal sprays (20 µg) and parenteral route (4 µg) compared to oral route (0.1 to 0.3 mg in tablet). A sensitive and selective method is needed to be developed and validated for assay of low concentrations of DDAPV in its pharmaceutical dosage form i...
September 2017: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29050499/congenital-factor-deficiencies-in-children-a-report-of-a-single-center-experience
#17
Zafer Şalcıoğlu, Cengiz Bayram, Hülya Şen, Gizem Ersoy, Gönül Aydoğan, Arzu Akçay, Deniz Tuğcu, Ferhan Akıcı, Müge Gökçe, Metin Demirkaya, Ali Ayçiçek, Zafer Başlar
Congenital factor deficiencies (CFDs) refer to inherited deficiency of coagulation factors in the blood. A total of 481 patients with CFDs, who were diagnosed and followed at our Pediatric Hematology and Oncology Clinic between 1990 and 2015, were retrospectively evaluated. Of the 481 cases, 134 (27.8%) were hemophilia A, 38 (7.9%) were hemophilia B, 57 (11.8%) were von Willebrand disease (vWD), and 252 (52.3%) were rare bleeding disorders (RBDs). The median age of the patients at the time of diagnosis and at the time of the study was 4...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29037559/noninvasive-prenatal-diagnosis-for-x-linked-disease-by-maternal-plasma-sequencing-in-a-family-of-hemophilia-b
#18
Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
OBJECTIVE: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. CASE REPORT: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and revealed a causative F9 gene mutation (c.190T>C, p...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29025906/comparative-profiling-of-hla-dr-and-hla-dq-associated-factor-viii-peptides-presented-by-monocyte-derived-dendritic-cells
#19
Ivan Peyron, Robin B Hartholt, Laura Pedró-Cos, Floris van Alphen, Anja Ten Brinke, Neubury Lardy, Sander Meijer, Jan Voorberg
The development of anti-factor VIII antibodies represents a major complication in the treatment of patients with hemophilia A. Generation of high affinity anti-factor VIII antibodies is dependent on help provided by CD4+ T cells that recognize factor VIII-derived peptides presented on class II major histocompatibility complex on the surface of antigen presenting cells. In order to identify the immune-dominant epitopes that can be presented to CD4+ T cells, we previously developed a mass-spectrometry based method to identify factor VIII derived peptides that are presented on human leucocyte antigen (HLA)-DR...
October 12, 2017: Haematologica
https://www.readbyqxmd.com/read/29018078/novel-approaches-to-hemophilia-therapy-successes-and-challenges
#20
Valder R Arruda, Bhavya S Doshi, Benjamin J Samelson-Jones
New therapies for hemophilia A and hemophilia B will likely continue to change clinical practice. Ranging from extended half-life to non-factor products and gene therapy, these innovative approaches have the potential to enhance the standard of care by decreasing infusion frequency to increase compliance, promoting prophylaxis, offering alternatives to inhibitor patients, and easing route of administration. Each category has intrinsic challenges that may limit the broader application of these promising therapies...
October 10, 2017: Blood
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