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Hemophilia B

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https://www.readbyqxmd.com/read/29446741/whats%C3%A2-new-in-gene-therapy-of-hemophilia
#1
E Carlos Rodriguez-Merchan
BACKGROUND: Several methods have been investigated to effectively and safely transmit genes that stimulate cells to release therapeutic factor VIII (FVIII) and factor IX (FIX) into the circulation of people with hemophilia (PWH). OBJECTIVE: To review the role of gene therapy (GT) in PWH. METHODS: A Cochrane Library and PubMed (MEDLINE) search related to the role of GT in hemophilia was analyzed. RESULTS: The most promising vectors for hemophilia GT are adeno-associated virus (AAV) and lentivirus...
February 14, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29444872/fviii-proteins-with-a-modified-immunodominant-t-cell-epitope-exhibit-reduced-immunogenicity-and-normal-fviii-activity
#2
Ruth A Ettinger, Joseph A Liberman, Devi Gunasekera, Komal Puranik, Eddie A James, Arthur R Thompson, Kathleen P Pratt
Factor VIII (FVIII)-neutralizing antibodies (inhibitors) are a serious complication in hemophilia A (HA). The peptide FVIII 2194-2213 contains an immunodominant HLA-DRA*01-DRB1*01:01 (DRB1*01:01)-restricted epitope recognized by CD4 + T-effector cells from HA subjects. The aim of this study was to identify amino acid substitutions to deimmunize this epitope while retaining procoagulant function and expression levels comparable to those of wild-type (WT) FVIII proteins. The shortest DRB1*01:01-binding peptide was FVIII 2194-2205 , and residues important for affinity were identified as F2196, M2199, A2201, and S2204...
February 27, 2018: Blood Advances
https://www.readbyqxmd.com/read/29444815/molecular-mechanisms-of-missense-mutations-that-generate-ectopic-n-glycosylation-sites-in-coagulation-factor-viii
#3
Wei Wei, Saurav Misra, Matthew V Cannon, Renchi Yang, Xiaofan Zhu, Reid Gilmore, Min Zhu, Bin Zhang
N-glycosylation is a common posttranslational modification of secreted and membrane proteins, catalyzed by the two enzymatic isoforms of the oligosaccharyltransferase, STT3A and STT3B. Missense mutations are the most common mutations in inherited diseases, however, missense mutations that generate extra, non-native N-glycosylation sites have not been well characterized. Coagulation factor VIII (FVIII) contains five consensus N-glycosylation sites outside its functionally dispensable B domain. We developed a computer program that identified hemophilia A mutations in FVIII that can potentially create ectopic glycosylation sites...
February 14, 2018: Biochemical Journal
https://www.readbyqxmd.com/read/29439283/replacement-therapy-for-coronary-artery-bypass-surgery-in-patients-with-hemophilia-a-and-b
#4
REVIEW
Theoni Kanellopoulou, Efrosyni Nomikou
There are only a few cases of patients with hemophilia A and B who have undergone coronary artery bypass surgery. High levels of replacement therapy with factor concentrate either with bolus or continuous infusion are usually required pre-operatively and during the first post-operative days in order to maintain the coagulation deficient factor levels greater than 80% of normal. Heparinization during cardiopulmonary bypass appears to be safe and intra-operative blood salvage using cell saver techniques reduce the need for transfusions...
February 13, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29419409/anticoagulant-protein-s-targets-the-factor-ixa-heparin-binding-exosite-to-prevent-thrombosis
#5
William E Plautz, Vijaya Satish Sekhar Pilli, Brian C Cooley, Rima Chattopadhyay, Pamela R Westmark, Todd Getz, David Paul, Wolfgang Bergmeier, John P Sheehan, Rinku Majumder
OBJECTIVE: PS (protein S) is a plasma protein that directly inhibits the coagulation FIXa (factor IXa) in vitro. Because elevated FIXa is associated with increased risk of venous thromboembolism, it is important to establish how PS inhibits FIXa function in vivo. The goal of this study is to confirm direct binding of PS with FIXa in vivo, identify FIXa amino acid residues required for binding PS in vivo, and use an enzymatically active FIXa mutant that is unable to bind PS to measure the significance of PS-FIXa interaction in hemostasis...
February 1, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29394833/-adjuvant-chemotherapy-for-hemophilia-b-a-case-report
#6
Keisuke Toya, Kohei Murata, Yoshinori Kagawa, Ryuichi Kuwahara, Takuya Sakamoto, Atsushi Naito, Kohei Murakami, Yoshiteru Katsura, Yoshiaki Ohmura, Atsushi Takeno, Chiyomi Egawa, Yutaka Takeda, Takeshi Kato, Shigeyuki Tamura
A 80s-year-old man with hemophilia B underwent operation for rectal cancer.Metastasis of the lymph nodes was revealed, so he was treated with adjuvant chemotherapy involving capecitabine and oxaliplatin(CapeOX).For safety, we measured tissue factor IX before every course of chemotherapy, and he completed 8 courses safely.
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29392598/the-impact-of-extended-half-life-versus-conventional-factor-product-on-hemophilia-caregiver-burden
#7
Carolyn E Schwartz, Victoria E Powell, Jun Su, Jie Zhang, Adi Eldar-Lissai
INTRODUCTION: Extended half-life factor products have reduced annualized bleeding rates in hemophilia patients. The impact of extended half-life versus conventional factor products on hemophilia caregiver burden has not been investigated. This study aimed to evaluate caregiver burden in extended half-life versus conventional factor products for hemophilia A and B. METHODS: This cross-sectional web-based study of caregivers of people with hemophilia A or B was recruited from a panel research company and by word of mouth...
February 1, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29388273/secretion-of-wild-type-factor-ix-upon-readthrough-over-f9-pre-peptide-nonsense-mutations-causing-hemophilia-b
#8
Mattia Ferrarese, Maria Francesca Testa, Dario Balestra, Francesco Bernardi, Mirko Pinotti, Alessio Branchini
Pre-peptide regions of secreted proteins display wide sequence variability, even among highly homologous proteins such as coagulation factors, and are intracellularly removed, thus potentially favouring secretion of wild-type proteins upon suppression of nonsense mutations (translational readthrough). As models we selected F9 nonsense mutations with readthrough-favourable features affecting the pre-peptide and pro-peptide regions of coagulation factor IX (FIX), which cause Hemophilia B. Only the p.Gly21Ter (c...
February 1, 2018: Human Mutation
https://www.readbyqxmd.com/read/29386868/american-society-of-hematology
#9
Walter Alexander
We review key sessions on Hodgkin's lymphoma, diffuse large B-cell lymphoma, thromboembolism, hemophilia, sickle cell disease, and chronic lymphocytic leukemia.
February 2018: P & T: a Peer-reviewed Journal for Formulary Management
https://www.readbyqxmd.com/read/29383626/continuous-infusions-of-b-domain-truncated-recombinant-factor-viii-turoctocog-alfa-for-orthopedic-surgery-in-severe-hemophilia-a-first-case-report
#10
Masahiro Takeyama, Keiji Nogami, Ryohei Kobayashi, Kenichi Ogiwara, Akira Taniguchi, Yasuaki Nakanishi, Yusuke Inagaki, Yasuhito Tanaka, Midori Shima
Continuous infusions (CI) of factor (F)VIII are preferable to the conventional bolus injections for the maintenance of consistent FVIII levels during surgery in patients with severe hemophilia A. A third generation, B domain-truncated recombinant FVIII (turoctocog alfa, Novo Nordisk, NovoEight®), was approved for clinical use in 2014. The hemostatic efficacy and safety of bolus injections of turoctocog alfa in patients undergoing surgery have been reported, but no reports on CI therapy have been published...
January 30, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29381944/hemorrhagic-pericardial-effusion-as-the-debut-of-acquired-hemophilia-in-a-chronic-lymphocytic-leukemia-patient-a-case-report-and-a-review-of-acquired-hemophilia-a-related-hematological-malignancies
#11
José María Bastida, María Teresa Cano-Mozo, Felix Lopez-Cadenas, Victor Eduardo Vallejo, Soraya Merchán, Cecilia Santos-Montón, David González-Calle, Javier Carrillo, Ana Africa Martín, Jose Angel Torres-Hernández, Marcos González, Francisco Martín-Herrero, Pedro Pabón, Jose Ramon González-Porras
BACKGROUND: Acquired hemophilia A (AHA) is a rare bleeding disease caused by autoantibodies against factor VIII. Spontaneous bleeding symptoms usually affect the skin and muscle, while pericardial effusion is an extremely rare manifestation. In the elderly, anticoagulant treatment is frequent and bleeding symptoms are usually associated with this. CLINICAL FINDINGS: We report a hemorrhagic pericardial effusion as the AHA debut in a patient with untreated chronic lymphocytic leukemia and anticoagulated with apixaban for atrial fibrillation and chronic arterial ischemia...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29363781/advanced-hemophilic-arthropathy-sensitivity-of-soft-tissue-discrimination-with-musculoskeletal-ultrasound
#12
Annette von Drygalski, Randy E Moore, Sonha Nguyen, Richard F W Barnes, Lena M Volland, Tudor H Hughes, Jiang Du, Eric Y Chang
OBJECTIVES: Point-of-care musculoskeletal ultrasound (US) is increasingly used by hemophilia providers to guide management; however, pathologic tissue differentiation with US is uncertain. We sought to determine the extent to which point-of-care musculoskeletal US can identify and discriminate pathologic soft tissue changes in hemophilic arthropathy. METHODS: Thirty-six adult patients with hemophilia A/B were prospectively enrolled. Point-of-care musculoskeletal US examinations were performed on arthropathic joints (16 knees, 10 ankles, and 10 elbows) using standard views by a musculoskeletal US-trained and certified hematologist, who recorded abnormal intra-articular soft tissue accumulation...
January 24, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29363389/real-world-analysis-of-dispensed-ius-of-coagulation-factor-ix-and-resultant-expenditures-in-hemophilia-b-patients-receiving-standard-half-life-versus-extended-half-life-products-and-those-switching-from-standard-half-life-to-extended-half-life-products
#13
Bartholomew J Tortella, José Alvir, Margaret McDonald, Dean Spurden, Patrick F Fogarty, Amit Chhabra, Andreas M Pleil
BACKGROUND: Hemophilia B requires replacement therapy with factor IX (FIX) coagulation products to treat and prevent bleeding episodes. A recently introduced extended half-life (EHL) recombinant FIX replacement product provided the opportunity to compare the amount of dispensed factor and expenditures for EHL treatment compared with a standard half-life (SHL) product. OBJECTIVE: To determine factor international units (IUs) dispensed and expenditures associated with switching from nonacog alfa, the most commonly used SHL replacement product, to eftrenonacog alfa, an EHL FIX replacement product...
January 24, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29357868/manual-therapy-in-the-treatment-of-patients-with-hemophilia-b-and-inhibitor
#14
Rubén Cuesta-Barriuso, Roberto O Trelles-Martínez
BACKGROUND: The main clinical manifestations of hemophilia are muscle and joint bleeding. Recurrent bleeding leads to a degenerative process known as hemophilic arthropathy. The development of inhibitors (antibodies against FVIII/FIX concentrates) is the main complication in the treatment of hemophilia. The objective was to assess the safety and efficacy of manual therapy treatment in a patient with hemophilia and inhibitor. CASE PRESENTATION: A 26-year-old patient with hemophilia B and inhibitor received physiotherapy treatment based on manual therapy for 3 months, with a frequency of 2 sessions per week...
January 22, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29333409/human-parvovirus-b19-and-parvovirus-4-among-iranian-patients-with-hemophilia
#15
Davod Javanmard, Masood Ziaee, Hadi Ghaffari, Mohammad Hasan Namaei, Ahmad Tavakoli, Hamidreza Mollaei, Mohsen Moghoofei, Helya Sadat Mortazavi, Seyed Hamidreza Monavari
Background: Human parvovirus B19 (B19V) is one of the smallest DNA viruses and shows great resistance to most disinfectants. Therefore, it is one of the common contaminant pathogens present in blood and plasma products. Parvovirus 4 (PARV4) is a newly identified parvovirus, which is also prevalent in parenteral transmission. In this study, we aimed to evaluate the prevalence of B19V and PARV4 DNA among patients with hemophilia in Birjand County in eastern Iran. Methods: This was a cross-sectional epidemiological study comprising nearly all people with hemophilia in this region...
December 2017: Blood Research
https://www.readbyqxmd.com/read/29326244/gene-therapy-comes-of-age
#16
REVIEW
Cynthia E Dunbar, Katherine A High, J Keith Joung, Donald B Kohn, Keiya Ozawa, Michel Sadelain
After almost 30 years of promise tempered by setbacks, gene therapies are rapidly becoming a critical component of the therapeutic armamentarium for a variety of inherited and acquired human diseases. Gene therapies for inherited immune disorders, hemophilia, eye and neurodegenerative disorders, and lymphoid cancers recently progressed to approved drug status in the United States and Europe, or are anticipated to receive approval in the near future. In this Review, we discuss milestones in the development of gene therapies, focusing on direct in vivo administration of viral vectors and adoptive transfer of genetically engineered T cells or hematopoietic stem cells...
January 12, 2018: Science
https://www.readbyqxmd.com/read/29317453/targeting-anticoagulant-protein-s-to-improve-hemostasis-in-hemophilia
#17
Raja Prince, Luca Bologna, Mirko Manetti, Daniela Melchiorre, Irene Rosa, Natacha Dewarrat, Silvia Suardi, Poorya Amini, José A Fernández, Laurent Burnier, Claudia Quarroz, Maria Desiré Reina Caro, Yasuhiro Matsumura, Johanna A Kremer Hovinga, John H Griffin, Hans-Uwe Simon, Lidia Ibba-Manneschi, François Saller, Sara Calzavarini, Anne Angelillo-Scherrer
Improved treatments are needed for hemophilia A and B, bleeding disorders affecting 400,000 people worldwide. We investigated whether targeting protein S could promote hemostasis in hemophilia by re-balancing coagulation. Protein S is an anticoagulant acting as cofactor for activated protein C and tissue factor pathway inhibitor (TFPI). This dual role makes PS a key regulator of thrombin generation. Here, we report that targeting protein S rebalances coagulation in hemophilia. Protein S gene targeting in hemophilic mice protected them against bleeding, especially when intra-articular...
January 9, 2018: Blood
https://www.readbyqxmd.com/read/29296912/hemophilia-gene-therapy-comes-of-age
#18
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 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296848/enhanced-liver-gene-transfer-and-evasion-of-preexisting-humoral-immunity-with-exosome-enveloped-aav-vectors
#19
Amine Meliani, Florence Boisgerault, Zachary Fitzpatrick, Solenne Marmier, Christian Leborgne, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Giuseppe Ronzitti, Alban Vignaud, Laetitia van Wittenberghe, Beatrice Marolleau, Fabienne Jouen, Sisareuth Tan, Olivier Boyer, Olivier Christophe, Alain R Brisson, Casey A Maguire, Federico Mingozzi
Results from clinical trials of liver gene transfer for hemophilia demonstrate the potential of the adeno-associated virus (AAV) vector platform. However, to achieve therapeutic transgene expression, in some cases high vector doses are required, which are associated with a higher risk of triggering anti-capsid cytotoxic T-cell responses. Additionally, anti-AAV preexisting immunity can prevent liver transduction even at low neutralizing antibody (NAb) titers. Here, we describe the use of exosome-associated AAV (exo-AAV) vectors as a robust liver gene delivery system that allows the therapeutic vector dose to be decreased while protecting from preexisting humoral immunity to the capsid...
October 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296726/novel-approach-to-genetic-analysis-and-results-in-3000-hemophilia-patients-enrolled-in-the-my-life-our-future-initiative
#20
Jill M Johnsen, Shelley N Fletcher, Haley Huston, Sarah Roberge, Beth K Martin, Martin Kircher, Neil C Josephson, Jay Shendure, Sarah Ruuska, Marion A Koerper, Jaime Morales, Glenn F Pierce, Diane J Aschman, Barbara A Konkle
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was performed centrally using next-generation sequencing (NGS) with an approach that detected common F8 gene inversions simultaneously with F8 and F9 gene sequencing followed by confirmation using standard genotyping methods. Sixty-nine HTCs enrolled the first 3000 patients in under 3 years...
May 23, 2017: Blood Advances
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