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Hemophilia B

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https://www.readbyqxmd.com/read/28440005/comparing-the-burden-of-illness-of-haemophilia-between-resource-constrained-and-unconstrained-countries-the-s%C3%A3-o-paulo-toronto-hemophilia-study
#1
J D A Carneiro, V Blanchette, M C Ozelo, S V Antunes, P R Villaca, N L Young, D Castro, L R Brandão, M Carcao, A Abad, B M Feldman
INTRODUCTION: Although the regular replacement of clotting factor concentrates (prophylaxis) has been well established as the standard of care for severe haemophilia, the high cost of factor concentrates has limited access to prophylaxis in countries with under-developed or developing economies. AIMS: We studied the health gap that could be addressed by providing unlimited access to clotting factor concentrates with implementation of long-term prophylaxis initiated from an early age in life...
April 24, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28437834/elucidation-of-factor-viii-activity-pharmacokinetics-a-pooled-population-analysis-in-hemophilia-a-patients-treated-with-moroctocog-alfa
#2
João A Abrantes, Elisabet I Nielsen, Joan Korth-Bradley, Lutz Harnisch, Siv Jönsson
This study investigated the disposition of coagulation factor VIII activity in 754 moderate to severe hemophilia A patients following the administration of moroctocog alfa, a B-domain deleted recombinant factor VIII. Data analyzed included patients aged 1 day to 73 years enrolled in 13 studies conducted over a period of 20 years in 25 countries. A two-compartment population pharmacokinetic model with a baseline model described the pooled data well. Body size, age, inhibitors, race and analytical assay were identified as significant predictors of factor VIII disposition...
April 24, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28411016/gene-therapy-for-hemophilia
#3
REVIEW
Arthur W Nienhuis, Amit C Nathwani, Andrew M Davidoff
The X-linked bleeding disorder hemophilia causes frequent and exaggerated bleeding that can be life-threatening if untreated. Conventional therapy requires frequent intravenous infusions of the missing coagulation protein (factor VIII [FVIII] for hemophilia A and factor IX [FIX] for hemophilia B). However, a lasting cure through gene therapy has long been sought. After a series of successes in small and large animal models, this goal has finally been achieved in humans by in vivo gene transfer to the liver using adeno-associated viral (AAV) vectors...
April 11, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28409144/hemarthrosis-subtalar-a-rare-diagnosis
#4
Dov Lagus Rosemberg, Miguel Akkari, Susana Dos Reis Braga, Mario Lenza, Fabio Ricardo Picchi Martins, Claudio Santili
Type B hemophilia usually affects patients with a family history of this disease and has a typical clinical picture. However, in the present case it appeared in a patient outside the typical age with no family history of hematologic malignancies and with an unusual clinical picture.
March 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28406575/monitoring-once-weekly-recombinant-factor-ix-prophylaxis-in-hemophilia-b-with-thrombin-generation-assay-and-factor-ix-activity
#5
V Nummi, A Jouppila, R Lassila
INTRODUCTION: Prophylaxis is the recommended treatment mode for severe hemophilia B. However, no single treatment regimen fits for all patients. Once-weekly prophylaxis with high-dose recombinant factor IX (rFIX) is efficacious, nevertheless, laboratory outcomes following 72 h after administration are lacking. METHODS: In a prospective open-label noncomparative study, 10 severe/moderate (FIX ≤2 IU/dL) adult patients received rFIX dose (60-100 IU/kg) after >72 h washout on two occasions, separated by 7 days...
April 13, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28401797/the-state-of-skewed-x-chromosome-inactivation-is-retained-in-the-induced-pluripotent-stem-cells-from-a-female-with-hemophilia-b
#6
Cuicui Lyu, Jun Shen, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Donglei Zhang, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
Skewed X chromosome inactivation (XCI) is a rare reason for hemophilia B in females. It is indefinite whether X chromosome reactivation (XCR) would occur when cells of hemophilia B patients with skewed XCI were reprogrammed into induced pluripotent stem cells (iPSCs). In this study, we investigated a female hemophilia B patient with a known F9 gene mutation: c.676C>T, p.Arg226Trp. We demonstrated that skewed XCI was the pathogenesis of the patient, and we successfully generated numerous iPSCs colonies of the patient from PBMNCs, which was the first time for generating hemophilia-specific iPSCs from PBMNCs...
April 12, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28401110/the-first-case-report-of-a-patient-with-coexisting-hemophilia-b-and-down-syndrome
#7
Pulkit Rastogi, Narender Kumar, Jasmina Ahluwalia, Reena Das, Inusha Panigrahi
No abstract text is available yet for this article.
March 2017: Blood Research
https://www.readbyqxmd.com/read/28395496/-causes-and-management-of-pediatric-spontaneous-tonsillar-haemorrhage
#8
Z B Wu, H G Pan, Y S Teng, D L Zhang, X Y Ma, S H Han, L Li
Objective: To analyze the causes and management plan of pediatric spontaneous tonsillar haemorrhage(STH). Methods: According to the criteria of STH difined by Griffies, patients with STH from December 2013 to January 2016 were included in this retrospective study. Results: A total of 11 patients were reviewed. The etiological diagnosis included 3 pediatric Epstein-Barr virus associated infectious mononucleosis(EBV-IM), 3 suspected pediatric EBV-IM to 3 acute suppurative tonsillitis, 1 acute viral tonsillitis and 1 hemophilia A...
March 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28393618/regulatory-b-cells-are-functionally-impaired-in-patients-having-hemophilia-a-with-inhibitors
#9
Mohamed-Rachid Boulassel, Maryam Al-Ghonimi, Badriya Al-Balushi, Amal Al-Naamani, Zahra Al-Qarni, Yasser Wali, Mohamed Elshinawy, Maryam Al-Shezawi, Hamad Khan, Hanan Nazir, Doaa Khater, Anil Pathare, Salam Al-Kindi
Development of inhibitors remains a major clinical complication in patients with hemophilia A receiving replacement therapy with factor VIII (FVIII). Understanding the immune mechanisms involved in the development of inhibitors can provide valuable information about pathways to human tolerance. Recent evidence indicates that B regulatory (Breg) cells play a pivotal role in controlling the production of antibodies (Abs) while promoting follicular T helper (Tfh) cells and monocytes, expressing the low-density lipoprotein receptor-related protein (LRP/CD91), which is involved in FVIII intake from the circulation...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28388906/predictors-of-quality-of-life-among-adolescents-and-young-adults-with-a-bleeding-disorder
#10
John M McLaughlin, James E Munn, Terry L Anderson, Angela Lambing, Bartholomew Tortella, Michelle L Witkop
BACKGROUND: Health-related quality of life (HRQoL) in adolescents and young adults with bleeding disorders is under-researched. We aimed to describe factors related to HRQoL in adolescents and young adults with hemophilia A or B or von Willebrand disease. METHODS: A convenience sample of volunteers aged 13 to 25 years with hemophilia or von Willebrand disease completed a cross-sectional survey that assessed Physical (PCS) and Mental (MCS) Component Summary scores on the SF-36 questionnaire...
April 7, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28350322/outcome-of-clinical-trials-with-new-extended-half-life-fviii-ix-concentrates
#11
REVIEW
Maria Elisa Mancuso, Elena Santagostino
The development of a new generation of coagulation factors with improved pharmacokinetic profile will change the paradigm of treatment of persons with hemophilia (PWH). The standard treatment in PWH is represented by regular long-term prophylaxis that, given intravenously twice or thrice weekly, is associated with a not-negligible burden on patients' quality of life. The availability of drugs with improved pharmacokinetic profile may improve prophylaxis feasibility and protection against bleeding episodes. This article summarizes the main results obtained from clinical trials with modified factor VIII (FVIII) and factor IX (FIX) molecules...
March 28, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28337764/a-national-french-noninterventional-study-to-assess-the-long-term-safety-and-efficacy-of-reformulated-nonacog-alfa
#12
Thierry Lambert, Chantal Rothschild, Fabienne Volot, Annie Borel-Derlon, Marc Trossaërt, Ségolène Claeyssens-Donadel, Sepideh Attal
BACKGROUND: Nonacog alfa, the recombinant Factor IX (F IX) used for the treatment of hemophilia B, was approved in Europe in 1998. A reformulated version was approved for European use in 2007. STUDY DESIGN AND METHODS: This postmarketing study, as recommended by the risk management plan, was conducted to confirm the safety of reformulated nonacog alfa in a usual care setting in France. This open-label, noninterventional, prospective, longitudinal postmarketing study comprised 19 French hemophilia centers...
March 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28335488/italian-registry-of-congenital-bleeding-disorders
#13
Adele Giampaolo, Francesca Abbonizio, Romano Arcieri, Hamisa Jane Hassan
In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people identified with bleeding disorders has increased over the years, with the number rising from approx. 7000 in 2000 to over 11,000 in 2015...
March 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28323492/regulatory-and-exhausted-t-cell-responses-to-aav-capsid
#14
Gwladys Gernoux, James M Wilson, Christian Mueller
Recombinant adeno-associated viruses (AAVs) are quickly becoming the preferred viral vector for viral gene delivery for the treatment of a wide variety of genetic disorders. However, since their use in a clinical trial targeting hemophilia B patients 10 years ago, immune responses to the AAV capsid appear to have hampered some of the early clinical gene transfer efficacy. Indeed, AAV-based gene transfer has been shown to reactivate capsid-specific memory T cells, which have correlated with a decline in AAV-transduced tissue in some patients...
April 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28319449/non-clinical-study-examining-aav8-tbg-hldlr-vector-associated-toxicity-in-chow-fed-wild-type-and-ldlr-rhesus-macaques
#15
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG.hLDLR, was evaluated in wild-type rhesus macaques and macaques heterozygous for a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene (LDLR(+/-))...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319338/management-of-us-men-women-and-children-with-hemophilia-and-methods-and-demographics-of-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#16
Tyler W Buckner, Michelle Witkop, Christine Guelcher, Mary Jane Frey, Susan Hunter, Skye Peltier, Michael Recht, Christopher Walsh, Craig M Kessler, Wendy Owens, David B Clark, Neil Frick, Michelle Rice, Neeraj N Iyer, Natalia Holot, David L Cooper, Robert Sidonio
The Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) initiative was launched in an effort to address specific gaps in the understanding of the psychosocial impact of mild-moderate-severe hemophilia B. The original Hemophilia Experiences, Results and Opportunities (HERO) qualitative study evaluated the needs of people with hemophilia A or B in multiple countries; however, a majority of participants had the more common moderate-severe hemophilia A. The B-HERO-S study was designed in collaboration with the hemophilia community to evaluate the needs of adults with hemophilia B and caregivers of children with hemophilia B, including affected women and caregivers of girls with hemophilia...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319337/impact-of-mild-to-severe-hemophilia-on-education-and-work-by-us-men-women-and-caregivers-of-children-with-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#17
Susan Cutter, Don Molter, Spencer Dunn, Susan Hunter, Skye Peltier, Kimberly Haugstad, Neil Frick, Natalia Holot, David L Cooper
The psychosocial impact of hemophilia on work was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study. The findings revealed that hemophilia had an impact for adults with moderate/severe hemophilia and caregivers of children with hemophilia. HERO did not specifically evaluate impact on education in adults/children with mild/moderate hemophilia or the impact on employment of spouses/partners of caregivers of affected children. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study evaluated the impact of hemophilia on the lives of adult men/women with mild-severe hemophilia B and caregivers of boys/girls with hemophilia B and their spouses/partners...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319336/impact-of-mild-to-severe-hemophilia-on-engagement-in-recreational-activities-by-us-men-women-and-children-with-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#18
Kimberly Baumann, Grace Hernandez, Michelle Witkop, Skye Peltier, Spencer Dunn, Susan Cutter, Neil Frick, Kimberly Haugstad, Christine Guelcher, Mary Jane Frey, Dawn Rotellini, David B Clark, Neeraj N Iyer, David L Cooper
The psychosocial impact of hemophilia on activities was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study (675 people with hemophilia and 561 caregivers of children with hemophilia in 10 countries). The impact of hemophilia B may not be accurately reflected in the HERO results, as ~75% of respondents described issues affecting males with hemophilia A. To address the needs of this population, the Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) was developed as a pilot study in the United States in collaboration with the hemophilia community...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319335/evaluating-the-psychosocial-impact-of-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#19
Robert Sidonio, Natalia Holot, David L Cooper
The needs of individuals living with hemophilia B, especially those with mild or moderate hemophilia and affected females, are not well understood. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) initiative was developed in an effort to obtain greater insights into the unique issues and challenges faced by those with hemophilia B. This study explored the impact of hemophilia B on education, employment, engagement in physical activities and other psychosocial aspects of the lives of affected individuals and their families...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28318036/autophagy-determines-efficiency-of-liver-directed-gene-therapy-with-adeno-associated-viral-vectors
#20
Marianna Hösel, Anke Huber, Susanne Bohlen, Julie Lucifora, Giuseppe Ronzitti, Francesco Puzzo, Florence Boisgerault, Ulrich T Hacker, Wilhelmus J Kwanten, Nora Klöting, Matthias Blüher, Alexander Gluschko, Michael Schramm, Olaf Utermöhlen, Wilhelm Bloch, Federico Mingozzi, Oleg Krut, Hildegard Büning
Use of Adeno-associated viral (AAV) vectors for liver-directed gene therapy has shown considerable success, particularly in patients with severe hemophilia B. However, the high vector doses required to reach therapeutic levels of transgene expression caused liver inflammation in some patients that selectively destroyed transduced hepatocytes. We hypothesized that such detrimental immune responses can be avoided by enhancing the efficacy of AAV vectors in hepatocytes. Because autophagy is a key liver response to environmental stresses, we characterized the impact of hepatic autophagy on AAV infection...
March 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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