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Hemophilia A

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https://www.readbyqxmd.com/read/27920236/the-efficacy-of-recombinant-fviii-low-dose-prophylaxis-in-chinese-pediatric-patients-with-severe-hemophilia-a-a-retrospective-analysis-from-the-recare-study
#1
Wanru Yao, Juan Xiao, Xiaoling Cheng, Guoshuang Feng, Changgang Li, Xinsheng Zhang, Qun Hu, Weiqun Xu, Jing Sun, Renchi Yang, Xiaojing Li, Rongfu Zhou, Shimei Lian, Jian Gu, Junde Wu, Yongqiang Zhao, Runhui Wu
OBJECTIVE: This study explores the efficacy of recombinant factor VIII (rFVIII) low-dose prophylaxis in Chinese pediatric patients with severe hemophilia A from the Retrospective Study in Chinese Pediatric Hemophilia A Patients With rFVIII Contained Regular Prophylaxis (ReCARE) population. METHODS: This is additional analysis of the multicenter, retrospective ReCARE study, in which the annual bleeding rate (ABR), annual joint bleeding rate (AJBR), and safety of >12-week, low dose (10-30 IU/kg/wk) rFVIII prophylaxis divided into primary, secondary, and tertiary groups based on the joint status and joint bleeding history were analyzed...
December 5, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27919309/cost-utility-analysis-of-primary-prophylaxis-compared-with-on-demand-treatment-for-patients-with-severe-hemophilia-type-a-in-colombia
#2
Héctor Eduardo Castro Jaramillo, Mabel Moreno Viscaya, Aurelio E Mejia
OBJECTIVES: This article presents a cost-utility analysis from the Colombian health system perspective comparing primary prophylaxis to on-demand treatment using exogenous clotting factor VIII (FVIII) for patients with severe hemophilia type A. METHODS: We developed a Markov model to estimate expected costs and outcomes (measured as quality-adjusted life-years, QALYs) for each strategy. Transition probabilities were estimated using published studies; utility weights were obtained from a sample of Colombian patients with hemophilia and costs were gathered using local data...
December 6, 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/27914734/applying-a-deliberation-model-to-the-analysis-of-consultations-in-haemophilia-implications-for-doctor-patient-communication
#3
Giulia Lamiani, Sarah Bigi, Maria Elisa Mancuso, Antonio Coppola, Elena Vegni
OBJECTIVE: Literature highlights the importance of communication in order to achieve patient's adherence. However, the specific dialogical components likely to favor patient adherence are not clear. In this study, the deliberation dialogue model was applied as an ideal model of optimal deliberation to real physician-patient consultations in the field of hemophilia in order to identify misalignments with the model and possible improvements in physician-patient communication. METHODS: By applying the deliberation model, we analyzed a corpus of 30 check-up consultations in hemophilia...
November 28, 2016: Patient Education and Counseling
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#4
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913544/treatment-of-rare-factor-deficiencies-in-2016
#5
Flora Peyvandi, Marzia Menegatti
Rare bleeding disorders (RBDs) are a heterogeneous group of coagulation disorders characterized by fibrinogen, prothrombin, factors V, VII, X, XI, or XIII (FV, FVII, FX, FXI, or FXIII, respectively), and the combined factor V + VIII and vitamin K-dependent proteins deficiencies, representing roughly 5% of all bleeding disorders. They are usually transmitted as autosomal, recessive disorders, and the prevalence of the severe forms could range from 1 case in 500 000 for FVII up to 1 in 2-3 million for FXIII in the general population...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913543/hemophilia-and-inhibitors-current-treatment-options-and-potential-new-therapeutic-approaches
#6
Shannon L Meeks, Glaivy Batsuli
The immune response to infused factor concentrates remains a major source of morbidity and mortality in the treatment of patients with hemophilia A and B. This review focuses on current treatment options and novel therapies currently in clinical trials. After a brief review of immune tolerance regimens, the focus of the discussion is on preventing bleeding in patients with hemophilia and inhibitors. Recombinant factor VIIa and activated prothrombin complex concentrates are the mainstays in treating bleeds in patients with inhibitors...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913542/new-therapies-for-hemophilia
#7
Steven W Pipe
Individuals with severe hemophilia have benefitted from 5 decades of advances that have led to widespread availability of safe and efficacious factors VIII and IX, a multidisciplinary integrated care model through a network of specialized hemophilia treatment centers, and aggressive introduction of prophylactic replacement therapy to prevent bleeding and preserve joint health. Yet, there are remaining challenges and treatment gaps which have prevented complete abrogation of all joint bleeding, and progressive joint deterioration may continue in some affected individuals over the course of a lifetime...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913541/what-is-the-role-of-an-extended-half-life-product-in-immune-tolerance-induction-in-a-patient-with-severe-hemophilia-a-and-high-titer-inhibitors
#8
Maissaa Janbain, Steven Pipe
A 10-year-old boy presents with a history of severe hemophilia A and high-titer inhibitor that had failed high-dose immune tolerance induction (ITI) with a recombinant factor VIII (rFVIII) product and a plasma-derived FVIII product. You are asked by his mother whether he should be tried on ITI with an extended half-life product, in particular, consideration of a rFVIIIFc concentrate.
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27906086/massive-adrenal-vein-aneurysm-mimicking-an-adrenal-tumor-in-a-patient-with-hemophilia-a-a-case-report-and-review-of-the-literature
#9
Richard Sleightholm, Steven Wahlmeier, Jeffrey S Carson, Andjela Drincic, Audrey Lazenby, Jason M Foster
BACKGROUND: Visceral venous aneurysms are exceedingly rare, and until now, there have been no reports of this phenomenon in the adrenal vasculature. This report details the first adrenal venous aneurysm reported in the literature. The aneurysm presented as an 18-cm mass that was initially suspected to be a hematoma or tumor on the basis of the complex medical history of the patient, which included hemophilia A and testicular cancer. After surgical excision, pathologic examination confirmed this mass to be a 15...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27902587/influence-of-factor-viii-level-and-its-inhibitor-titer-on-the-therapeutic-response-to-corticosteroids-alone-in-the-management-of-acquired-hemophilia-a-retrospective-single-center-study
#10
Mathieu Vautier, Hubert de Boysson, Christian Creveuil, Yohan Repesse, Annie Borel-Derlon, Xavier Troussard, Gandhi L Damaj, Boris Bienvenu, Philippe Gautier, Achille Aouba
The treatment of acquired hemophilia (AH) involves discussing whether corticosteroids should be administered alone or combined with immunosuppressant drugs, which increase the risk of infection especially in elderly patients and/or those with autoimmunity or neoplastic diseases, who represent the target population of the disease. Prognostic factors highlighting adequate responses to corticosteroids alone must be identified for satisfactory clinical response and lower infectious risk.We aimed to evaluating the efficacy of corticosteroids alone in the management of AH depending on factor VIII (FVIII, ≥ or <1 IU/dL) levels and/or inhibitor (INH, ≤ or >20 Bethesda units per milliliter [BU/mL]) titer...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27898092/transposon-mediated-generation-of-cellular-and-mouse-models-of-splicing-mutations-to-assess-the-efficacy-of-snrna-based-therapeutics
#11
Elena Barbon, Mattia Ferrarese, Laetitia van Wittenberghe, Peggy Sanatine, Giuseppe Ronzitti, Fanny Collaud, Pasqualina Colella, Mirko Pinotti, Federico Mingozzi
Disease-causing splicing mutations can be rescued by variants of the U1 small nuclear RNA (U1snRNAs). However, the evaluation of the efficacy and safety of modified U1snRNAs as therapeutic tools is limited by the availability of cellular and animal models specific for a given mutation. Hence, we exploited the hyperactive Sleeping Beauty transposon system (SB100X) to integrate human factor IX (hFIX) minigenes into genomic DNA in vitro and in vivo. We generated stable HEK293 cell lines and C57BL/6 mice harboring splicing-competent hFIX minigenes either wild type (SChFIX-wt) or mutated (SChFIXex5-2C)...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27897038/aav-gene-therapy-for-liver-disease
#12
Lisa M Kattenhorn, Christopher H Tipper, Lorelei Stoica, Deborah S Geraghty, Teresa L Wright, K Reed Clark, Samuel Wadsworth
The field of adeno-associated virus (AAV) gene therapy has progressed rapidly over the past decade, with the advent of novel capsid serotypes, organ-specific promoters and an increasing understanding of the immune response to AAV administration. Liver-directed therapy, in particular, has made remarkable strides with a number of clinical trials currently planned and on-going in hemophilia A and B, as well as other liver disorders. This review focuses on liver-directed AAV gene therapy, including historic context, current challenges, and future developments...
November 29, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27896066/acth-therapy-for-west-syndrome-with-severe-hemophilia-a
#13
Kazuo Kubota, Yoriko Kinomura, Takahiro Yamamoto, Michio Ozeki, Minako Kawamoto, Norio Kawamoto, Toshiyuki Fukao
Hemophilia A is an X-linked recessive disorder caused by factor VIII deficiency, which is an important factor in the coagulation system. Here, we describe a 1-year-old boy with hemophilia A who developed West syndrome (WS). Recombinant factor VIII was administered during adrenocorticotropic hormone (ACTH) therapy to prevent intracranial hemorrhage. Infusion of factor VIII at fixed intervals is useful for the safe administration of ACTH therapy for patients with WS with severe hemophilia A. A coagulation screening test should be performed before ACTH therapy...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27890816/pathophysiology-of-hemophilic-arthropathy-and-potential-targets-for-therapy
#14
REVIEW
Astrid E Pulles, Simon C Mastbergen, Roger E G Schutgens, Floris P J G Lafeber, Lize F D van Vulpen
Hemophilia is a congenital clotting factor deficiency characterized by spontaneous and trauma-related bleeding. Spontaneous bleeding shows a predilection for joints, and repeated hemarthroses lead to a disabling condition called hemophilic arthropathy. Treatment of this condition consists of preventing joint bleeding on the one hand and orthopedic surgery as a last resort on the other. Up till now, there is no disease modifying therapy available to fill the gap between these extremes. This review provides an overview of the pathogenesis of hemophilic arthropathy in order to identify potential targets for therapy...
November 24, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27885871/continuous-prophylaxis-with-recombinant-factor-ix-fc-fusion-protein-and-conventional-recombinant-factor-ix-products-comparisons-of-efficacy-and-weekly-factor-consumption
#15
Alfonso Iorio, Sangeeta Krishnan, Karl-Johan Myrén, Stefan Lethagen, Nora McCormick, Sander Yermakov, Paul Karner
BACKGROUND: Continuous prophylaxis for patients with hemophilia B requires frequent injections that are burdensome and that may lead to suboptimal adherence and outcomes. Hence, therapies requiring less-frequent injections are needed. In the absence of head-to-head comparisons, we compared the first extended-half-life-recombinant factor IX (rFIX) product- recombinant factor IX Fc fusion protein (rFIXFc) - with conventional rFIX products based on annualized bleed rates (ABRs) and factor consumption reported in studies of continuous prophylaxis...
November 25, 2016: Journal of Medical Economics
https://www.readbyqxmd.com/read/27885231/two-elderly-patients-with-difficult-to-treat-acquired-hemophilia-a
#16
Makoto Saito, Masanobu Morioka
We herein report the cases of two elderly patients with acquired hemophilia A (AHA) for whom treatment was difficult.An 89-year-old woman (Case 1) was admitted to our department with subcutaneous hemorrhage and melena. Her activated partial thromboplastin time (APTT), factor VIII activity, and factor VIII inhibitor level were 127.7 seconds, 1.0%, and 48 BU/mL, respectively, which was suggestive of AHA. The administration of prednisolone (PSL 0.5 mg/kg) was initiated. After 3 weeks, PSL was combined with cyclophosphamide (CPA 50 mg)...
2016: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/27882429/endovascular-management-of-recurrent-spontaneous-hemarthrosis-after-arthroplasty
#17
Marcin K Kolber, Pratik A Shukla, Abhishek Kumar, Adam Zybulewski, Todd Markowitz, James E Silberzweig
PURPOSE: Recurrent spontaneous hemarthrosis is an infrequent but debilitating late complication of joint replacement, affecting up to 1.6% of patients with arthroplasty of the affected joint. Repeated episodes of bleeding result in an inflammatory cascade that further propagates bleeding events. Open and arthroscopic synovectomy are often performed when conservative treatments fail. Transarterial embolization is increasingly utilized as a less invasive option; however, its role is not widely established...
November 23, 2016: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27872729/mild-bleeders-diagnosis-is-elusive-in-large-number-of-patients
#18
Mrinalini Kotru, Deepti Mutereja, Abhishek Purohit, Seema Tyagi, Manoranjan Mahapatra, Renu Saxena, Hara Prasad Pati
BACKGROUND: Bleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders. MATERIAL AND METHODS: This was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand's disease and Platelet Factor 3 availability were measured...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#19
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27868337/enhanced-uptake-of-blood-coagulation-factor-viii-containing-immune-complexes-by-antigen-presenting-cells
#20
R B Hartholt, A Wroblewska, E Herczenik, I Peyron, A Ten Brinke, T Rispens, M A Nolte, E Slot, J W Claassens, F Nimmerjahn, J S Verbeek, J Voorberg
BACKGROUND: A major complication in the treatment of hemophilia A is the development of inhibitory antibodies targeting coagulation factor VIII (FVIII). Eradication of these inhibitors can be established by immune tolerance induction (ITI) which consists of daily administration of high dosages of FVIII. FVIII immune complexes (FVIII-IC) could be formed following FVIII infusion in patients with pre-existing anti-FVIII antibodies. OBJECTIVES: Here we studied endocytosis of FVIII-IC by bone marrow derived dendritic cells (BMDCs)...
November 21, 2016: Journal of Thrombosis and Haemostasis: JTH
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