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Hemophilia A

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https://www.readbyqxmd.com/read/29334995/antisense-suppression-of-the-nonsense-mediated-decay-factor-upf3b-as-a-potential-treatment-for-diseases-caused-by-nonsense-mutations
#1
Lulu Huang, Audrey Low, Sagar S Damle, Melissa M Keenan, Steven Kuntz, Susan F Murray, Brett P Monia, Shuling Guo
BACKGROUND: About 11% of all human genetic diseases are caused by nonsense mutations that generate premature translation termination codons (PTCs) in messenger RNAs (mRNA). PTCs not only lead to the production of truncated proteins, but also often result in  decreased mRNA abundance due to  nonsense-mediated mRNA decay (NMD). Although pharmacological inhibition of NMD could be an attractive therapeutic approach for the treatment of diseases caused by nonsense mutations, NMD also regulates the expression of 10-20% of the normal transcriptome...
January 15, 2018: Genome Biology
https://www.readbyqxmd.com/read/29334292/safety-and-effectiveness-of-fascial-therapy-in-adult-patients-with-hemophilic-arthropathy-a-pilot-study
#2
Elena Donoso-Úbeda, Javier Meroño-Gallut, José Antonio López-Pina, Rubén Cuesta-Barriuso
BACKGROUND: The primary clinical manifestations of hemophilia are muscle and joint bleeding. Recurrent bleeding leads to a degenerative process known as hemophilic arthropathy. Fascial therapy is one of the most used physiotherapy techniques today to improve joint dysfunctions and chronic pain. OBJECTIVE: To assess the safety and efficacy of fascial therapy treatment in patients with hemophilic arthropathy of ankle and knee. DESIGN: Non-randomized, controlled clinical trial...
January 15, 2018: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/29333409/human-parvovirus-b19-and-parvovirus-4-among-iranian-patients-with-hemophilia
#3
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/29333065/hepatitis-c-infection-in-patients-with-hereditary-bleeding-disorders-epidemiology-natural-history-and-management
#4
REVIEW
Nikolaos Papadopoulos, Vasiliki Argiana, Melanie Deutsch
Hereditary bleeding disorders include a group of diseases with abnormalities of coagulation. Prior to 1990, infection with hepatitis C virus (HCV) was mainly transmitted via pooled plasma products as a treatment for hereditary bleeding disorders. Anti-HCV positivity in these patients may be as high as >70% in some areas, while some of them have also been coinfected with human immunodeficiency virus. Since about 20% of HCV-infected patients clear the infection naturally, chronic HCV infection represents a significant health problem in this group of patients...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29328573/emicizumab-prophylaxis-in-hemophilia-a-with-inhibitors
#5
Johannes Oldenburg, Gallia G Levy
No abstract text is available yet for this article.
November 30, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29328572/emicizumab-prophylaxis-in-hemophilia-a-with-inhibitors
#6
Hideo Wada, Takeshi Matsumoto, Naoyuki Katayama
No abstract text is available yet for this article.
November 30, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29328571/emicizumab-prophylaxis-in-hemophilia-a-with-inhibitors
#7
Louis M Aledort, Bruce M Ewenstein
No abstract text is available yet for this article.
November 30, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29326244/gene-therapy-comes-of-age
#8
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
#9
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/29305412/desmopressin-in-moderate-hemophilia-a-patients-a-treatment-worth-considering
#10
Janneke I Loomans, Marieke J H A Kruip, Manuel Carcao, Shannon Jackson, Alice S van Velzen, Marjolein Peters, Elena Santagostino, Helen Platokouki, Erik Beckers, Jan Voorberg, Johanna G van der Bom, Karin Fijnvandraat
Desmopressin increases endogenous factor VIII levels in hemophilia A. Large inter-individual variation in the response to desmopressin is observed. Patients with a lower baseline factor VIII activity tend to show a reduced response. Therefore, desmopressin is less frequently used in moderate hemophilia A patients (baseline factor VIII activity 1-5 international units/deciliter), even though factor VIII levels may rise substantially in some of them. We aim to describe the response to desmopressin in moderate hemophilia A patients and to identify predictors...
January 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29300108/measuring-success-in-hemophilia-gene-therapy-using-a-factor-level-outcomes-yardstick
#11
Nicoletta Machin, Margaret V Ragni
No abstract text is available yet for this article.
January 4, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29297925/genterapi-%C3%A2-fr%C3%A3-n-id%C3%A3-till-verklighet-%C3%A3-nnu-har-f%C3%A3-patienter-behandlats-och-preparaten-%C3%A3-r-ofta-mycket-dyra-%C3%A2-men-utvecklingen-g%C3%A3-r-fort-nu
#12
Edvard Smith, Pontus Blomberg
Gene therapy - from idea to reality Gene therapy was originally proposed 45 years ago, but it is only during the last 5-10 years that significant clinical benefit has been demonstrated. Gene therapy is in most cases in the form of engineered viruses carrying a therapeutic gene. Examples of successfully treated disorders are primary immunodeficiencies and hemophilias. In some cases, gene therapy consists of genetically modified cells, such as when chimeric antigen receptors are stably introduced into T lymphocytes, and used as tumor therapy, mainly for leukemias...
December 19, 2017: Läkartidningen
https://www.readbyqxmd.com/read/29296916/thromboembolic-event-rate-in-patients-exposed-to-anti-inhibitor-coagulant-complex-a-meta-analysis-of-40-year-published-data
#13
Matteo Rota, Paolo A Cortesi, Roberto Crea, Alessandro Gringeri, Lorenzo G Mantovani
Anti-inhibitor coagulant complex (AICC), an activated prothrombin complex concentrate, has been available for the treatment of patients with inhibitors since 1977, and thromboembolic events (TEEs) have been reported after infusion of AICC in patients with congenital or acquired hemophilia. With the aim of estimating the TEE incidence rate (IR) related to AICC exposure in these patients, a systematic review of the literature was carried out in Medline, according to PRISMA guidelines, from inception date to March 2017...
December 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296912/hemophilia-gene-therapy-comes-of-age
#14
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
#15
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/29296836/long-term-safety-and-efficacy-of-emicizumab-in-a-phase-1-2-study-in-patients-with-hemophilia-a-with-or-without-inhibitors
#16
Midori Shima, Hideji Hanabusa, Masashi Taki, Tadashi Matsushita, Tetsuji Sato, Katsuyuki Fukutake, Ryu Kasai, Koichiro Yoneyama, Hiroki Yoshida, Keiji Nogami
Emicizumab (ACE910), a recombinant humanized bispecific monoclonal antibody, provides factor VIII (FVIII) cofactor bridging function to restore hemostasis in people with hemophilia A. In a phase 1 trial involving 18 Japanese patients with severe hemophilia A, once-weekly subcutaneous administration of emicizumab 0.3, 1, or 3 mg/kg (cohorts 1, 2, and 3, respectively) was well tolerated and substantially reduced annualized bleeding rates (ABRs) in the presence or absence of FVIII inhibitors. The current study represents an open-label, long-term extension of the previously reported 12-week phase 1 study, in which 16 of 18 patients continued to receive emicizumab for up to 33...
October 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296773/sequential-bypassing-agents-during-major-orthopedic-surgery-a-new-approach-to-hemostasis
#17
Craig D Seaman, Margaret V Ragni
Sequential bypassing agents may be a safe and effective treatment during major orthopedic surgery in hemophilia patients with inhibitors.
July 25, 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
#18
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
https://www.readbyqxmd.com/read/29285874/early-cellular-interactions-and-immune-transcriptome-profiles-in-human-factor-viii-exposed-hemophilia-a-mice
#19
J D Lai, D Cartier, R B Hartholt, L L Swystun, A S van Velzen, J M M den Haan, C Hough, J Voorberg, D Lillicrap
BACKGROUND: Developing factor VIII (FVIII) inhibitory antibodies is the most serious complication in hemophilia A treatment, representing a significant health and economic burden. A better understanding of the early events in an immune response leading to this outcome may provide insight into inhibitor development. OBJECTIVE: To identify early mediators of FVIII immunity and to detail immune expression profiles in the spleen and liver. METHODS: C57Bl/6 F8 E16 knockout mice were infused with 5-20 μg (2000-8000 IU/kg) of recombinant FVIII...
December 28, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29285161/hemorrhagic-pleural-effusion-related-to-acquired-coagulation-factor-viii-deficiency-a-case-report
#20
Yu-Ping Liu, Xiang-Hua Lin, Xue-Ke Wang, Shang-Zhi Yang, Chang-Qing Fan
A patient with acquired hemophilia A (AHA) with hemorrhagic pericardial effusions was admitted to Xiamen Chang Gung Hospital (Xiamen, China) in August 2015. The patient had been experiencing progressive dyspnea for 1 week. Bloody effusion (~6.3 l) was drained from the membrane surrounding the heart over a period of 20 days. Biochemical, cytological and radiological examinations were unable to elucidate the reason for the effusion. Coincidentally, it was discovered that activated partial thromboplastin time prolongation could not be corrected by plasma mixing...
December 2017: Experimental and Therapeutic Medicine
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