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Hemophilia B

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https://www.readbyqxmd.com/read/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#1
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28202865/repeated-diffuse-alveolar-hemorrhage-in-a-patient-with-hemophilia-b
#2
Hajime Kasai, Jiro Terada, Hiromasa Hoshi, Takashi Urushibara, Fumiaki Kato, Rintaro Nishimura, Koichiro Tatsumi
Diffuse alveolar hemorrhage (DAH) is a life-threatening complication that occurs in association with various diseases including coagulation disorders. In rare cases, it is caused by hemophilia. A 48-year-old man was admitted to our hospital for a third time due to DAH. Although the cause of DAH could not be identified by bronchoscopy or laboratory tests, a good response to corticosteroids suggested idiopathic DAH with pulmonary capillaritis. The patient was diagnosed with hemophilia B based on the results of a detailed inquiry, a mildly prolonged activated partial thromboplastin time, and low factor IX activity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28202722/systemic-delivery-of-factor-ix-messenger-rna-for-protein-replacement-therapy
#3
Suvasini Ramaswamy, Nina Tonnu, Kiyoshi Tachikawa, Pattraranee Limphong, Jerel B Vega, Priya P Karmali, Pad Chivukula, Inder M Verma
Safe and efficient delivery of messenger RNAs for protein replacement therapies offers great promise but remains challenging. In this report, we demonstrate systemic, in vivo, nonviral mRNA delivery through lipid nanoparticles (LNPs) to treat a Factor IX (FIX)-deficient mouse model of hemophilia B. Delivery of human FIX (hFIX) mRNA encapsulated in our LUNAR LNPs results in a rapid pulse of FIX protein (within 4-6 h) that remains stable for up to 4-6 d and is therapeutically effective, like the recombinant human factor IX protein (rhFIX) that is the current standard of care...
February 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28196793/specific-factor-ix-mrna-and-protein-features-favor-drug-induced-readthrough-over-recurrent-nonsense-mutations
#4
Alessio Branchini, Mattia Ferrarese, Matteo Campioni, Giancarlo Castaman, Rosella Mari, Francesco Bernardi, Mirko Pinotti
Drug-induced readthrough over premature stop codons (PTCs) is a potentially attractive therapy for genetic disorders but a wide outcome variability has been observed. Through expression studies we investigated the responsiveness to the readthrough-inducing drug geneticin of eleven rationally-selected factor IX (FIX) nonsense mutations, present in 70% (324/469) of Hemophilia B (HB) patients with PTCs. Among the predicted readthrough-permissive TGA variants, only two (p.W240X, p.R384X) responded with a remarkable rescue of FIX activity...
February 14, 2017: Blood
https://www.readbyqxmd.com/read/28168417/first-case-report-of-hemophilia-b-leyden-in-japan
#5
Atsuki Yamashita, Chiai Nagae, Mika Mori, Tomoko Ashikaga, Tetsuhito Kojima, Masashi Taki
Hemophilia B Leyden is a unique subtype of hemophilia B, characterized by increasing factor IX activity (FIX:C) after puberty and a lower normal range of FIX:C throughout adulthood. However, to date, no Japanese case has been reported. Here, we report a case of hemophilia B Leyden in a 22-year-old male. He suffered from subgaleal hematoma, and was subsequently diagnosed with hemophilia B (FIX:C 0.2%) in the neonatal period. Both his parents are Japanese. There was no history of hemophilia in his family. FIX:C gradually increased with age (8% at age = 1; 14% at age = 7; 19% at age = 12; 32% at age = 18)...
February 7, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28166648/characteristics-of-minimally-oversized-adeno-associated-virus-vectors-encoding-human-factor-viii-generated-using-producer-cell-lines-and-triple-transfection
#6
Bindu Nambiar, Cathleen Cornell Sookdeo, Patricia Berthelette, Robert Jackson, Susan Piraino, Brenda Burnham, Shelley Nass, David Souza, Catherine R O'Riordan, Karen A Vincent, Seng H Cheng, Donna Armentano, Sirkka Kyostio-Moore
Several ongoing clinical studies are evaluating recombinant adeno-associated virus (rAAV) vectors as gene delivery vehicles for a variety of diseases. However, the production of vectors with genomes >4.7 kb is challenging, with vector preparations frequently containing truncated genomes. To determine whether the generation of oversized rAAVs can be improved using a producer cell-line (PCL) process, HeLaS3-cell lines harboring either a 5.1 or 5.4 kb rAAV vector genome encoding codon-optimized cDNA for human B-domain deleted Factor VIII (FVIII) were isolated...
February 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28166609/modulating-immunogenicity-of-factor-ix-by-fusion-to-an-immunoglobulin-fc-domain-a-study-using-hemophilia-b-mouse-model
#7
Ditza Levin, H A Daniel Lagassé, Erin Burch, Scott Strome, Siyuan Tan, Haiyan Jiang, Zuben E Sauna, Basil Golding
BACKGROUND: Fc-fusion is a platform technology used to increase the circulating half-life of protein and peptide therapeutics. However, there are potential immunological consequences with this approach, such as changes in the molecule's immunogenicity as well as possible interactions with a repertoire of Fc-receptors (FcR) which can modulate immune responses. OBJECTIVES/METHODS: Using a mouse hemophilia B (HB) model, we compared the immune responses to infusions of recombinant human Factor IX (hFIX) and hFIX fused to mouse IgG2a-Fc (hFIX-mFc)...
February 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28166608/safety-efficacy-and-pharmacokinetics-of-rviii-singlechain-in-children-with-severe-hemophilia-a-sesults-of-a-multicenter-clinical-trial
#8
Oleksandra Stasyshyn, Claudia Djambas Khayat, Genadi Iosava, Jeannie Ong, Faraizah Abdul Karim, Kathelijn Fischer, Alex Veldman, Nicole Blackman, Katie St Ledger, Ingrid Pabinger
BACKGROUND: rVIII-SingleChain, is a novel B-domain truncated recombinant Factor VIII (rFVIII) comprised of covalently bonded FVIII heavy and light chains, demonstrating a high binding affinity to von Willebrand Factor. OBJECTIVES: This Phase III study investigated the safety, efficacy and pharmacokinetics of rVIII-SingleChain in previously treated pediatric patients <12 years of age with severe hemophilia A. PATIENTS/METHODS: Patients could be assigned to prophylaxis or on-demand therapy by the investigator...
February 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28164173/tgf-%C3%AE-1-along-with-other-platelet-contents-augments-treg-cells-to-suppress-anti-fviii-immune-responses-in-hemophilia-a-mice
#9
Dipica Haribhai, Xiaofeng Luo, Juan Chen, Shuang Jia, Linzheng Shi, Jocelyn A Schroeder, Hartmut Weiler, Richard H Aster, Martin J Hessner, Jianda Hu, Calvin B Williams, Qizhen Shi
Platelets are a rich source of many cytokines and chemokines including transforming growth factor β 1 (TGF-β1). TGF-β1 is required to convert conventional CD4(+) T (Tconv) cells into induced regulatory T (iTreg) cells that express the transcription factor Foxp3. Whether platelet contents will affect Treg cell properties has not been explored. In this study, we show that unfractionated platelet lysates (pltLys) containing TGF-β1 efficiently induced Foxp3 expression in Tconv cells. The common Treg cell surface phenotype and in vitro suppressive activity of unfractionated pltLys-iTreg cells were similar to those of iTreg cells generated using purified TGF-β1 (purTGFβ-iTreg) cells...
December 13, 2016: Blood Adv
https://www.readbyqxmd.com/read/28153098/oral-tolerance-induction-in-hemophilia-b-dogs-fed-with-transplastomic-lettuce
#10
Roland W Herzog, Timothy C Nichols, Jin Su, Bei Zhang, Alexandra Sherman, Elizabeth P Merricks, Robin Raymer, George Q Perrin, Mattias Häger, Bo Wiinberg, Henry Daniell
Anti-drug antibodies in hemophilia patients substantially complicate treatment. Their elimination through immune tolerance induction (ITI) protocols poses enormous costs, and ITI is often ineffective for factor IX (FIX) inhibitors. Moreover, there is no prophylactic ITI protocol to prevent anti-drug antibody (ADA) formation. Using general immune suppression is problematic. To address this urgent unmet medical need, we delivered antigen bioencapsulated in plant cells to hemophilia B dogs. Commercial-scale production of CTB-FIX fusion expressed in lettuce chloroplasts was done in a hydroponic facility...
February 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28112377/targeted-introduction-and-effective-expression-of-hfix-at-the-aavs1-locus-in-mesenchymal-stem-cells
#11
Shu-Jun Li, Ying Luo, Le-Meng Zhang, Wei Yang, Guo-Gang Zhang
Hemophilia B occurs due to a deficiency in human blood coagulation factor IX (hFIX). Currently, no effective treatment for hemophilia B has been identified, and gene therapy has been considered the most appropriate treatment. Mesenchymal stem cells (MSCs) have homing abilities and low immunogenicity, and therefore they may be potential cell carriers for targeted drug delivery to lesional tissues. The present study constructed an adeno‑associated virus integration site 1 (AAVS1)‑targeted vector termed AAVS1‑green fluorescent protein (GFP)‑hFIX and a zinc finger nuclease (ZFN) expression vector...
January 19, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28079788/the-prevalence-of-factor-viii-and-ix-inhibitors-among-saudi-patients-with-hemophilia-results-from-the-saudi-national-hemophilia-screening-program
#12
Tarek Owaidah, Abdulkareem Al Momen, Hazzaa Alzahrani, Abdulrahman Almusa, Fawaz Alkasim, Ahmed Tarawah, Randa Al Nouno, Fatima Al Batniji, Fahad Alothman, Ali Alomari, Saud Abu-Herbish, Mahmoud Abu-Riash, Khawar Siddiqui, Mansor Ahmed, S Y Mohamed, Mahasen Saleh
Hemophilia A and B are X-linked diseases that predominantly affect male patients. Patients can develop coagulation factor inhibitors, which exponentially increases the treatment cost. However, the prevalence of factor VIII and IX inhibitors in Saudi Arabia is unclear.This study aimed to determine the Saudi prevalence of factor VIII and IX inhibitors.This 4-year, 7-center, cross-sectional study evaluated the Saudi prevalences of hemophilia A and B. We collected the patients' clinical data, evaluated their disease, and tested for factor inhibitors...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28067581/understanding-adherence-to-treatment-and-physical-activity-in-children-with-hemophilia-the-role-of-psychosocial-factors
#13
Sarah Bérubé, Audrey Cloutier-Bergeron, Claudine Amesse, Serge Sultan
The objective of this study was to identify psychosocial factors to explain intentions of children and adolescents with hemophilia to adhere to recommendations for self-care. Twenty-four patients with hemophilia A and B, aged 6-18 years old, and their parents, completed a survey. Measures assessed factors from the theory of planned behavior, physical activity, and medical treatment adherence. The results indicate that past behaviors, attitudes, and subjective norms explained a large proportion of the intention to engage in future nonrecommended physical activity...
January 9, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/28064157/fviii-specific-human-chimeric-antigen-receptor-t-regulatory-cells-suppress-t-and-b-cell-responses-to-fviii
#14
Jeongheon Yoon, Anja Schmidt, Ai-Hong Zhang, Christoph Königs, Yong Chan Kim, David W Scott
Replacement therapy with factor VIII (FVIII) is used in patients with hemophilia A for treatment of bleeding episodes or for prophylaxis. A common and serious problem with this therapy is the patient's immune response to FVIII, because of a lack of tolerance, leading to the formation of inhibitory antibodies. Development of tolerogenic therapies, other than standard immune tolerance induction (ITI), is an unmet goal. We previously generated engineered antigen-specific regulatory T cells (Tregs), created by transduction of a recombinant T-cell receptor (TCR) isolated from a hemophilia A subject's T-cell clone...
January 12, 2017: Blood
https://www.readbyqxmd.com/read/28056565/characterization-of-aav-mediated-human-factor-viii-gene-therapy-in-hemophilia-a-mice
#15
Jenny A Greig, Qiang Wang, Amanda L Reicherter, Shu-Jen Chen, Alexandra L Hanlon, Christopher H Tipper, K Reed Clark, Samuel Wadsworth, Lili Wang, James M Wilson
Adeno-associated viral (AAV) vectors are promising vehicles for hemophilia gene therapy, with favorable clinical trial data seen in the treatment of hemophilia B. In an effort to optimize the expression of human coagulation factor VIII (hFVIII) for the treatment of hemophilia A, we performed an extensive study with numerous combinations of liver-specific promoter and enhancer elements with a codon-optimized hFVIII transgene. After generating 42 variants of three reduced-size promoters and three small enhancers, transgene cassettes were packaged within a single AAV capsid, AAVrh10, to eliminate performance differences due to the capsid type...
January 5, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28056528/spectrum-of-molecular-defects-in-216-chinese-families-with-hemophilia-a
#16
Zhiping Guo, Linhua Yang, Xiuyu Qin, Xiue Liu, Yaofang Zhang
Hemophilia A (HA) is an X-linked bleeding disorder caused by heterogeneous mutations in the factor VIII gene ( F8). Our aim is to identify the causative mutations in a large HA cohort from China. We studied 216 unrelated HA families. Molecular analyses of F8 were performed using a combination of molecular techniques, including polymerase chain reaction, direct sequencing, and multiplex ligation-dependent probe amplification. The deleterious consequences of the unreported missense mutations were evaluated using various bioinformatics approaches...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28049359/iranian-low-dose-escalating-prophylaxis-regimen-in-children-with-severe-hemophilia-a-and-b
#17
Peyman Eshghi, Elham Sadeghi, S Zahra Tara, Behnaz Habibpanah, Razieh Hantooshzadeh
Establishing an appropriate prophylaxis regimen for children with hemophilia is a critical challenge in developing countries. Barriers including availability and affordability, catheter-related complications, and inhibitor development risks have led to the introduction of new tailored prophylaxis regimens in different countries. This study emphasizes on the benefits of the Iranian low-dose escalating prophylaxis regimen in a Hemophilia Comprehensive Care Center in Iran. Referred patients with hemophilia less than 15 years of age, who were subject to prophylaxis regimen, are studied retrospectively...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28039188/abnormal-joint-and-bone-wound-healing-in-hemophilia-mice-is-improved-by-extending-factor-ix-activity-after-hemarthrosis
#18
Junjiang Sun, Baolai Hua, Eric W Livingston, Sarah Taves, Peter B Johansen, Maureane Hoffman, Mirella Ezban, Dougald M Monroe, Ted A Bateman, Paul E Monahan
Wound healing requires interactions between coagulation, inflammation, angiogenesis, cellular migration, and proliferation. Healing in dermal wounds of hemophilia B mice is delayed when compared to hemostatically normal wild type (WT) mice, with abnormal persistence of iron deposition, inflammation, and neovascularity. We observed healing following induced joint hemorrhage in WT and factor IX (FIX) knockout (FIX(-/-)) mice, examining also parameters previously studied in an excisional skin wound model. Hemostatically normal mice tolerated this joint bleeding challenge, cleared blood from the joint, and healed with minimal pathology, even if additional autologous blood was injected intra-articularly at the time of wounding...
December 30, 2016: Blood
https://www.readbyqxmd.com/read/28025929/hemophilia-management-via-data-collection-and-reporting-initial-findings-from-the-comprehensive-care-sustainability-collaborative
#19
Michael D Tarantino, Vanita K Pindolia
BACKGROUND: Despite being a rare disorder, hemophilia represents a significant driver of health care resource utilization and requires expert hematologic and multidisciplinary services to achieve optimal outcomes. Since their inception nearly 40 years ago, hemophilia treatment centers (HTCs) have served as centers of excellence in providing the intensive care and ancillary services necessary for this unique patient base; however, the full capabilities of these centers may be underused in the current framework of managed care, largely because of a lack of communication and information shared between payers and HTC stakeholders...
January 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/27995883/-construction-of-the-pires2-zsgreen1-eukaryotic-expression-vector-of-factor-%C3%A2-gene-and-expression-in-hek-293-cells
#20
J F Chen, Y F Zhang, J M Kang, X Y Qin, M F Wang, G Wang, L H Yang
Objective: To construct pIRES2-ZsGreen1/F Ⅸ expression vector, using the pcDNA/FⅨ plasmid containing FⅨ cDNA as template, and express in HEK-293 cells. Methods: The total ORF of F Ⅸ gene was amplified from pcDNA/F Ⅸ plasmid, then the amplified fragment was clonded into the pIRES2-ZsGreen1 vector using the Infusion enzyme. The positive clones of eukaryotic expression vector of pIRES2-ZsGreen1/F Ⅸ were screened and expanded after transfection, then were constructed and confirmed by PCR and sequencing...
November 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
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