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Hemophilia B

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https://www.readbyqxmd.com/read/29925692/double-stranded-rna-innate-immune-response-activation-from-long-term-adeno-associated-virus-vector-transduction
#1
Wenwei Shao, Lauriel F Earley, Zheng Chai, Xiaojing Chen, Junjiang Sun, Ting He, Meng Deng, Matthew L Hirsch, Jenny Ting, R Jude Samulski, Chengwen Li
Data from clinical trials for hemophilia B using adeno-associated virus (AAV) vectors have demonstrated decreased transgenic coagulation factor IX (hFIX) expression 6-10 weeks after administration of a high vector dose. While it is likely that capsid-specific cytotoxic T lymphocytes eliminate vector-transduced hepatocytes, thereby resulting in decreased hFIX, this observation is not intuitively consistent with restored hFIX levels following prednisone application. Although the innate immune response is immediately activated following AAV vector infection via TLR pathways, no studies exist regarding the role of the innate immune response at later time points after AAV vector transduction...
June 21, 2018: JCI Insight
https://www.readbyqxmd.com/read/29925096/inhibitors-in-hemophilia-b
#2
Cristina Santoro, Gabriele Quintavalle, Giancarlo Castaman, Erminia Baldacci, Antonietta Ferretti, Federica Riccardi, Annarita Tagliaferri
Hemophilia B (HB) is an X-linked bleeding disorder caused by deficiency of factor IX (FIX). Patients with the severe form (FIX <1%) account approximately for 30 to 45% of persons with HB and usually suffer from recurrent joint, soft-tissue, and muscle bleeds. The availability of safe plasma-derived and recombinant products has virtually abolished the risk of viral infections and the adoption of prophylactic regimens has attenuated the impact of hemophilic arthropathy. Therefore, the development of an inhibitor against FIX is currently the most serious complication that can still occur in the new generations of HB patients...
June 20, 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29921547/application-of-the-isth-bleeding-score-in-hemophilia
#3
Munira Borhany, Naveena Fatima, Madiha Abid, Tahir Shamsi, Maha Othman
BACKGROUND: Hemophilia is an inherited bleeding disorder. With proper treatment and self-care, persons with hemophilia can maintain an active, productive lifestyle. Hemophilia can be mild, moderate, or severe, depending on the degree of plasma clotting factor deficiency. The aim of the study was to assess the utility of ISTH-BAT in diagnosis, determining severity of the bleeding condition in newly diagnosed and known hemophilia patients, compare the bleeding score (BS) in adult and pediatric groups and investigate its association with plasma factor levels...
June 15, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29916986/macroporous-dual-compartment-hydrogels-for-minimally-invasive-transplantation-of-primary-human-hepatocytes
#4
Nailah Seale, Suvasini Ramaswamy, Yu-Ru Shih, Inder Verma, Shyni Varghese
BACKGROUND: Given the shortage of available organs for whole or partial liver transplantation, hepatocyte cell transplantation has long been considered a potential strategy to treat patients suffering from various liver diseases. Some of the earliest approaches that attempted to deliver hepatocytes via portal vein or spleen achieved little success due to poor engraftment. More recent efforts include transplantation of cell sheets or thin hepatocyte laden synthetic hydrogels. However, these implants must remain sufficiently thin to ensure that nutrients can diffuse into the implant...
June 18, 2018: Transplantation
https://www.readbyqxmd.com/read/29909699/the-benefits-of-prophylaxis-in-patients-with-hemophilia-b
#5
Giancarlo Castaman
The health benefits of prophylactic dosing regimens for clotting factor therapy in patients with hemophilia include reduced joint damage and improved quality of life and, as such, prophylaxis is recommended in treatment guidelines. However, many patients with hemophilia B are treated on demand, and prophylaxis has been utilized less frequently than in hemophilia A. Areas covered: This review discusses the opportunities and evidence for prophylaxis in hemophilia B, in the context of treatment guidelines and with regard to factor IX (FIX) replacement therapies, including long-acting recombinant FIX (rFIX)...
June 18, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29895623/a-cross-sectional-analysis-of-cardiovascular-disease-in-the-hemophilia-population
#6
Suman L Sood, Dunlei Cheng, Margaret Ragni, Craig M Kessler, Doris Quon, Amy D Shapiro, Nigel S Key, Marilyn J Manco-Johnson, Adam Cuker, Christine Kempton, Tzu-Fei Wang, M Elaine Eyster, Philip Kuriakose, Annette von Drygalski, Joan Cox Gill, Allison Wheeler, Peter Kouides, Miguel A Escobar, Cindy Leissinger, Sarah Galdzicka, Marshall Corson, Crystal Watson, Barbara A Konkle
Men with hemophilia were initially thought to be protected from cardiovascular disease (CVD), but it is now clear that atherothrombotic events occur. The primary objective of the CVD in Hemophilia study was to determine the prevalence of CVD and CVD risk factors in US older men with moderate and severe hemophilia and to compare findings with those reported in age-comparable men in the Atherosclerosis Risk in Communities (ARIC) cohort. We hypothesized if lower factor levels are protective from CVD, we would see a difference in CVD rates between more severely affected and unaffected men...
June 12, 2018: Blood Advances
https://www.readbyqxmd.com/read/29895176/inherited-bleeding-disorders-experience-of-a-not-for-profit-organization-in-pakistan
#7
Shabneez Hussain, Shahida Baloch, Azra Parvin, Akbar Najmuddin, Farhana Musheer, Mubashra Junaid, Rab Nawaz Memon, Fareeda Bhanbhro, Hayat Ullah, Bushra Moiz
Patient registry is a powerful tool for planning health care and setting groundwork for research. This survey reports a detailed registry of inherited bleeding disorders (IBD) and their management at a not-for-profit organization in a developing country to form the basis for planning development and research. We reviewed medical records of patients with IBD from 8 hemophilia treatment centers of Fatimid Foundation located in various cities. Information collected included sociodemographic data, diagnostic tests, severity of hemophilia A and B, number of bleeding episodes per year, site and frequency of hemarthrosis, and seropositivity for viral diseases...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29890905/optimized-adeno-associated-virus-mediated-human-factor-viii-gene-therapy-in-cynomolgus-macaques
#8
Jenny Greig, Jayme Nordin, John White, Qiang Wang, Erin Bote, Tamara Goode, Roberto Calcedo, Samuel Wadsworth, Lili Wang, James M Wilson
Hemophilia A is a common hereditary bleeding disorder that is characterized by a deficiency of human blood coagulation factor VIII (hFVIII). Previous studies with adeno-associated viral (AAV) vectors identified two liver-specific promoter and enhancer combinations (E03.TTR and E12.A1AT) that drove high level expression of a codon-optimized, B-domain-deleted hFVIII transgene in a mouse model of the disease. Here, we further evaluated these enhancer/promoter combinations in cynomolgus macaques using two different AAV capsids (AAVrh10 and AAVhu37)...
June 11, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29888865/in-depth-comparison-of-n-glycosylation-of-human-plasma-derived-factor-viii-and-different-recombinant-products-from-structure-to-clinical-implications
#9
K Canis, J Anzengruber, E Garenaux, M Feichtinger, K Benamara, F Scheiflinger, L-A Savoy, B M Reipert, M Malisauskas
BACKGROUND/OBJECTIVE: Human factor VIII (FVIII) is a plasma glycoprotein, defects of which result in hemophilia A. Current substitution therapy uses FVIII products purified from human plasma or from various cell lines (recombinant FVIII) with different levels of B-domain deletion. Glycosylation is a post-translational protein modification in FVIII that has a substantial influence on its physical, functional, and antigenic properties. Variation in glycosylation is likely the reason that FVIII products differ in their pharmacokinetics, pharmacodynamics, and immunogenicity...
June 11, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29879771/perioperative-management-of-patients-with-hemophilia-during-spinal-surgery
#10
Kazuyoshi Kobayashi, Shiro Imagama, Kei Ando, Kenyu Ito, Mikito Tsushima, Masayoshi Morozumi, Satoshi Tanaka, Masaaki Machino, Kyotaro Ota, Yoshihiro Nishida, Naoki Ishiguro
STUDY DESIGN: Single-center retrospective study. PURPOSE: To optimize the perioperative management of patients with hemophilia who are undergoing spinal surgery. OVERVIEW OF LITERATURE: Hemophilia is a rare disease in which there is a tendency of bleeding because of a congenital deficiency in blood coagulation factor activity. There has been no previous report on spinal surgery in patients with hemophilia. METHODS: The subjects were five patients (all males) with hemophilia who underwent spinal surgery at Nagoya University Hospital...
June 2018: Asian Spine Journal
https://www.readbyqxmd.com/read/29869648/recombinant-factor-viii-past-present-and-future-of-treatment-of-hemophilia-a
#11
S Raso, C Hermans
The development of recombinant factor VIII (rFVIII) was initially driven by the necessity to treat hemophilia A (HA) patients with FVIII concentrates without the risk of transmitting infectious agents. Over the last three decades the safety of rFVIII has been further improved by completely removing animal or human proteins from the manufacturing process, so that patients would not be exposed to known or emerging pathogens. Recent efforts have concentrated on improving the expression of rFVIII, reducing its immunogenicity and enhancing its pharmacokinetic (PK) behavior...
April 2018: Drugs of Today
https://www.readbyqxmd.com/read/29788949/range-of-motion-after-total-knee-arthroplasty-in-hemophilic-arthropathy
#12
Radovan Kubeš, Peter Salaj, Rastislav Hromádka, Josef Včelák, Aleš Antonín Kuběna, Monika Frydrychová, Štěpán Magerský, Michal Burian, Martin Ošťádal, Jan Vaculik
BACKGROUND: Outcomes of total knee replacement in cases of hemophilic patients are worse than in patients who undergo operations due to osteoarthritis. Previous publications have reported varying rates of complications in hemophilic patients, such as infection and an unsatisfactory range of motion, which have influenced the survival of prostheses. Our retrospective study evaluated the data of hemophilic patients regarding changes in the development of the range of motion. METHODS: The data and clinical outcomes of 72 total knee replacements in 45 patients with hemophilia types A and B were reviewed retrospectively...
May 22, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29779350/-a-phase-%C3%A2-multi-center-clinical-trial-on-safety-and-efficacy-of-a-domestic-plasma-derived-factor-%C3%A2-for-the-treatment-of-patients-with-hemophilia-b
#13
W Liu, R F Fu, Y W Zhou, Y Chen, J Yin, Z Q Yu, L H Yang, M F Wang, H Bi, Z P Zhou, X S Zhang, J L Xia, R C Yang
Objective: To evaluate the efficacy and safety of a domestic human plasma derived coagulation Factor Ⅸ concentrate (pd-FⅨ) in patients with hemophilia B. Methods: The study was a multicenter, open-label and single-arm study. The efficacy of pd-F Ⅸ was evaluated by objective performance criteria. The doses of pd-FⅨ were calculated according to the bleeding symptom and disease severity. The infusion efficiency of pd-FⅨ and improvement of bleeding symptoms were measured at 30 minutes and (24±4) h after the first infusion, respectively...
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29765291/the-potential-close-future-of-hemophilia-treatment-gene-therapy-tfpi-inhibition-antithrombin-silencing-and-mimicking-factor-viii-with-an-engineered-antibody
#14
REVIEW
Wolfgang Korte, Lukas Graf
Summary Hemophilia is one of the best researched monogenic diseases. Hemophilia A will affect approximately 1:5,000 male live births. In recent decades, great progress has been made with the introduction of recombinant proteins in the 1990s for therapy and prophylaxis, securing adequate availability and, with the introduction of the prophylaxis concept, reducing the negative impact of hemophilia on morbidity (especially arthropathy). Despite this progress, there are still challenges to overcome to secure adequate prophylaxis and treatment: for the time being, causal pharmacological hemophilia prophylaxis and therapy requires repeated i...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29765290/extended-half-life-factor-viii-and-factor-ix-preparations
#15
REVIEW
Lukas Graf
In the last couple of years, several extended half-life factor VIII and factor IX preparations were intensively studied and gained approval. In order to extend half-lives, techniques like fusion to protein conjugates (Fc part of IgG1 or albumin), chemical modification (PEGylation), and protein sequence modification are implemented. With these techniques, it is possible to extend half-lives of factor IX products 4- to 6- fold, while half-life extension of factor VIII products is limited to 1.5- to 2-fold due to their interaction with von Willebrand factor...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#16
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29746288/bypassing-agents-for-bleeding-prophylaxis-in-hemophilia-b-a-clinical-conundrum
#17
Akshay M Khatri, George Jolly, Arun Kumar
No abstract text is available yet for this article.
May 1, 2018: American Journal of Therapeutics
https://www.readbyqxmd.com/read/29741261/new-challenges-and-best-practices-for-the-laboratory-monitoring-of-factor-viii-and-factor-ix-replacement
#18
REVIEW
D Van den Bossche, K Peerlinck, M Jacquemin
Several recombinant factor VIII and factor IX concentrates with extended half-life (EHL) have recently been validated by clinical studies. The availability of these novel concentrates is expected to significantly facilitate the treatment of patients with hemophilia A and B. However, the modification applied to these molecules has introduced variations in their activity measurement in routine coagulation assays. Depending on the assays, underestimations of up to 10-fold or overestimations of up to approximately 30-fold in the measurements of the recovery have been reported in some factor concentrates...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29720192/the-impact-of-severe-haemophilia-and-the-presence-of-target-joints-on-health-related-quality-of-life
#19
Jamie O'Hara, Shaun Walsh, Charlotte Camp, Giuseppe Mazza, Liz Carroll, Christina Hoxer, Lars Wilkinson
BACKGROUND: Joint damage remains a major complication associated with haemophilia and is widely accepted as one of the most debilitating symptoms for persons with severe haemophilia. The aim of this study is to describe how complications of haemophilia such as target joints influence health-related quality of life (HRQOL). METHODS: Data on hemophilia patients without inhibitors were drawn from the 'Cost of Haemophilia across Europe - a Socioeconomic Survey' (CHESS) study, a cost-of-illness assessment in severe haemophilia A and B across five European countries (France, Germany, Italy, Spain, and the UK)...
May 2, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29719266/autologous-and-heterologous-cell-therapy-for-hemophilia-b-toward-functional-restoration-of-factor-ix
#20
Suvasini Ramaswamy, Nina Tonnu, Tushar Menon, Benjamin M Lewis, Kevin T Green, Derek Wampler, Paul E Monahan, Inder M Verma
Hemophilia B is an ideal target for gene- and cell-based therapies because of its monogenic nature and broad therapeutic index. Here, we demonstrate the use of cell therapy as a potential long-term cure for hemophilia B in our FIX-deficient mouse model. We show that transplanted, cryopreserved, cadaveric human hepatocytes remain functional for more than a year and secrete FIX at therapeutic levels. Hepatocytes from different sources (companies and donors) perform comparably in curing the bleeding defect. We also generated induced pluripotent stem cells (iPSCs) from two hemophilia B patients and corrected the disease-causing mutations in them by two different approaches (mutation specific and universal)...
May 1, 2018: Cell Reports
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