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https://www.readbyqxmd.com/read/29453814/preclinical-evaluation-of-a-semi-automated-and-rapid-commercial-electrophoresis-assay-for-von-willebrand-factor-multimers
#1
Marika Pikta, Galina Zemtsovskaja, Hector Bautista, Georges Nouadje, Timea Szanto, Margus Viigimaa, Valdas Banys
BACKGROUND: The von Willebrand factor (VWF) multimer test is required to correctly subtype qualitative type 2 von Willebrand disease (VWD). The current VWF multimer assays are difficult, nonstandardized, and time-consuming. The purpose of this study was to evaluate the clinical utility of the commercial VWF multimer kit by Sebia (Lisses, France), an electrophoresis technique yielding same-day results. METHODS: Ten healthy volunteer plasma samples, in-house reference plasma (IRP) and commercial normal plasma (CNP) samples, 10 plasma samples from patients with a known VWD type, 1 hemophilia A plasma sample, and 7 external quality assurance (EQA) samples were analyzed using the commercial VWF multimer kit...
February 17, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29451467/hemlibra-s-remarkable-efficacy-a-beacon-for-hemophilia-patients
#2
Thomas Morrow
Hemlibra demonstrates how far antibody science has progressed. Genentech's drug, approved late last year, connects two clotting factors to prevent the devastating bleeds in hemophilia patients with inhibitors. The high price may be offset by avoided costs in patients with factor VIII inhibitors.
February 2018: Managed Care
https://www.readbyqxmd.com/read/29450507/hemophilia-gene-therapies-show-promise
#3
Jennifer Abbasi
No abstract text is available yet for this article.
February 13, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29447219/optimization-of-prophylaxis-for-hemophilia-a
#4
Robert D Herbert, Carolyn R Broderick, Chris Barnes, Laurent Billot, Albert Zhou, Jane Latimer
BACKGROUND & AIMS: Prophylactic injections of factor VIII reduce the incidence of bleeds and slow the development of joint damage in people with hemophilia. The aim of this study was to identify optimal person-specific prophylaxis regimens for children with hemophilia A. METHODS: Analytic and numerical methods were used to identify prophylaxis regimens which maximize the time for which plasma factor VIII concentrations exceed a threshold, maximize the lowest plasma factor VIII concentrations, and minimize risk of bleeds...
2018: PloS One
https://www.readbyqxmd.com/read/29446741/whats%C3%A2-new-in-gene-therapy-of-hemophilia
#5
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/29446615/leveraging-engineering-of-cells-for-drug-delivery
#6
Zhaowei Chen, Quanyin Hu, Zhen Gu
Cell therapy has become a momentum-gathering treatment strategy for a variety of diseases, including cancer, diabetes, hemophilia, and cardiomyopathy. However, clinical applications of conventional cell therapies have often been compromised by rapid decline in viability and function of the transplanted cells due to host recognition and subsequent foreign body rejection. Along this line, cell engineering technologies such as cell encapsulation within microcapsules and immobilization in porous scaffolds have been implemented to address the immunosuppression concerns...
February 15, 2018: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29444872/fviii-proteins-with-a-modified-immunodominant-t-cell-epitope-exhibit-reduced-immunogenicity-and-normal-fviii-activity
#7
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
#8
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/29439640/an-evaluation-of-hemostatic-abnormalities-in-patients-with-hemophilia-according-to-the-activated-partial-thromboplastin-time-waveform
#9
Haruna Katayama, Takeshi Matsumoto, Hideo Wada, Naoki Fujimoto, Junki Toyoda, Yasunori Abe, Kohshi Ohishi, Yoshiki Yamashita, Makoto Ikejiri, Koji Habe, Naoyuki Katayama
The usefulness of the waveform of activated partial thromboplastin time (APTT) in various diseases has been evaluated in recent years. The APTT waveform was examined in patients with hemophilia and patients positive for lupus anticoagulant (LA). The correlation with the FVIII activity was highest for the height of acceleration peak. The peak time of acceleration, velocity, and ½ fibrin formation, and the width of acceleration and velocity were significantly long and the height of acceleration was significantly low in patients with hemophilia...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29439283/replacement-therapy-for-coronary-artery-bypass-surgery-in-patients-with-hemophilia-a-and-b
#10
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/29439277/inhibitors-in-nonsevere-hemophilia-a-what-is-known-and-searching-for-the-unknown
#11
Amal Abdi, Silvia Linari, Lisa Pieri, Jan Voorberg, Karin Fijnvandraat, Giancarlo Castaman
Nonsevere hemophilia A (NSHA) is an inherited X-linked bleeding disorder, caused by mutations of the F8 gene, leading to decreases of clotting factor VIII (FVIII) levels to 1 to 40 IU/dL. Desmopressin is the first therapeutic option for NSHA, but 40 to 50% of patients fail to attain adequate postinfusion FVIII levels. Thus, in these cases, FVIII concentrates remain the mainstay of treatment. The development of neutralizing FVIII antibodies (inhibitors) is a major challenge with replacement therapy. In contrast to severe disease, NSHA patients have a lifelong risk of inhibitor development...
February 13, 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29434818/current-characteristics-of-hemophilia-patients-co-infected-with-hiv-hcv-in-japan
#12
Satoshi Miuma, Masaaki Hidaka, Mitsuhisa Takatsuki, Koji Natsuda, Akihiko Soyama, Hisamitsu Miyaaki, Yasuko Kanda, Yoko Tamada, Hidetaka Shibata, Eisuke Ozawa, Naota Taura, Susumu Eguchi, Kazuhiko Nakao
Over 30 years have passed since co-infection with human immunodeficiency virus (HIV)/hepatitis C virus (HCV) was first documented in hemophilia patients in Japan. In such cases, the leading cause of mortality is reportedly HCV-associated end-stage liver disease. However, the current characteristics of hemophilia patients co-infected with HIV/HCV are unknown. The aim of the present study was to reveal the current characteristics, notably HCV geno-prevalence and liver function, among hemophilia patients co-infected with HIV/HCV in Japan...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29429943/cd157-marks-tissue-resident-endothelial-stem-cells-with-homeostatic-and-regenerative-properties
#13
Taku Wakabayashi, Hisamichi Naito, Jun-Ichi Suehiro, Yang Lin, Hideya Kawaji, Tomohiro Iba, Tsukasa Kouno, Sachi Ishikawa-Kato, Masaaki Furuno, Kazuhiro Takara, Fumitaka Muramatsu, Jia Weizhen, Hiroyasu Kidoya, Katsuhiko Ishihara, Yoshihide Hayashizaki, Kohji Nishida, Mervin C Yoder, Nobuyuki Takakura
The generation of new blood vessels via angiogenesis is critical for meeting tissue oxygen demands. A role for adult stem cells in this process remains unclear. Here, we identified CD157 (bst1, bone marrow stromal antigen 1) as a marker of tissue-resident vascular endothelial stem cells (VESCs) in large arteries and veins of numerous mouse organs. Single CD157+ VESCs form colonies in vitro and generate donor-derived portal vein, sinusoids, and central vein endothelial cells upon transplantation in the liver...
February 1, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29426727/setting-the-stage-for-individualized-therapy-in-hemophilia-what-role-can-pharmacokinetics-play
#14
REVIEW
H C A M Hazendonk, I van Moort, R A A Mathôt, K Fijnvandraat, F W G Leebeek, P W Collins, M H Cnossen
Replacement therapy with clotting factor concentrates (CFC) is the mainstay of treatment in hemophilia. Its widespread application has led to a dramatic decrease in morbidity and mortality in patients, with concomitant improvement of quality of life. However, dosing is challenging and costs are high. This review discusses benefits and limitations of pharmacokinetic (PK)-guided dosing of replacement therapy as an alternative for current dosing regimens. Dosing of CFC is now primarily based on body weight and based on its in vivo recovery (IVR)...
January 31, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29419797/infrared-thermography-as-a-non-invasive-tool-to-explore-differences-in-the-musculoskeletal-system-of-children-with-hemophilia-compared-to-an-age-matched-healthy-group
#15
Axel Seuser, Karin Kurnik, Anne-Katrin Mahlein
Recurrent joint bleeds and silent bleeds are the most common clinical feature in patients with hemophilia. Every bleed causes an immediate inflammatory response and is the leading cause of chronic crippling arthropathy. With the help of infrared thermography we wanted to detect early differences between a group of clinical non-symptomatic children with hemophilia (CWH) with no history of clinically detected joint bleeds and a healthy age-matched group of children. This could help to discover early inflammation and help implement early treatment and preventative strategies...
February 8, 2018: Sensors
https://www.readbyqxmd.com/read/29419677/risk-of-major-comorbidities-among-workers-with-hemophilia-a-14-year-population-based-study
#16
Wei-Min Chu, Hsin-En Ho, Jiaan-Der Wang, Wei-Cheng Chan, Yi-Sheng Liou, Wen-Chao Ho, Sung-Yuan Hu, Yu-Tse Tsan
Multiple comorbidities, especially musculoskeletal dysfunction and cerebrovascular disease, remain barriers to normal social participation among persons with hemophilia (PWH). However, the relative health effects of such comorbidities on workers with hemophilia have seldom been explored. In this study, we investigated the incidence of comorbidities and their risk factors among workers with hemophilia.The study compared the incidence and risk factors of the major comorbidities of 411 workers with hemophilia enrolled in Taiwan's National Health Insurance Research Database between 1997 and 2010 with an age- and sex-matched general population...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29419409/anticoagulant-protein-s-targets-the-factor-ixa-heparin-binding-exosite-to-prevent-thrombosis
#17
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/29418040/male-gender-school-attendance-and-sports-participation-are-positively-associated-with-health-related-quality-of-life-in-children-and-adolescents-with-congenital-bleeding-disorders
#18
P F Limperg, M M H Joosten, K Fijnvandraat, M Peters, M A Grootenhuis, L Haverman
BACKGROUND: This study assesses health-related quality of life (HRQOL), and variables associated with HRQOL, in children and adolescents with haemophilia and congenital bleeding disorders (CBD) in the Netherlands. METHODS: Patients <18 years with CBD under treatment at the Hemophilia Comprehensive Care Center of the Academic Medical Center were included. Participants completed generic HRQOL questionnaires (TAPQOL 0-5 years; PedsQL 6-18 years). Differences and effect sizes in HRQOL compared to healthy peers, and between hemophilia severity groups, were tested using Mann Whitney U-tests...
February 8, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29414930/gene-therapies-for-hemophilia-hit-the-mark-in-clinical-trials
#19
Adrian K Pickar, Charles A Gersbach
No abstract text is available yet for this article.
February 7, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29410404/a-microengineered-vascularized-bleeding-model-that-integrates-the-principal-components-of-hemostasis
#20
Yumiko Sakurai, Elaissa T Hardy, Byungwook Ahn, Reginald Tran, Meredith E Fay, Jordan C Ciciliano, Robert G Mannino, David R Myers, Yongzhi Qiu, Marcus A Carden, W Hunter Baldwin, Shannon L Meeks, Gary E Gilbert, Shawn M Jobe, Wilbur A Lam
Hemostasis encompasses an ensemble of interactions among platelets, coagulation factors, blood cells, endothelium, and hemodynamic forces, but current assays assess only isolated aspects of this complex process. Accordingly, here we develop a comprehensive in vitro mechanical injury bleeding model comprising an "endothelialized" microfluidic system coupled with a microengineered pneumatic valve that induces a vascular "injury". With perfusion of whole blood, hemostatic plug formation is visualized and "in vitro bleeding time" is measured...
February 6, 2018: Nature Communications
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