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https://www.readbyqxmd.com/read/28339167/if-you-know-you-will-also-see-population-pharmacokinetics-is-the-way-to-personalize-and-optimize-prophylaxis-in-hemophilia
#1
Erik Berntorp
The beauty of having a robust population PK model, as described here, for a specific factor concentrate is that the model is based on many PK curves (in this case n= 130) using rich sampling (in this case 9 samples taken after infusion up to 72 hours in patients aged ≥ 12 years, for some subjects even up to 96 hours). For patients below the age of 12, five samples were taken for practical reasons. If the model is robust then theoretically, This article is protected by copyright. All rights reserved.
March 24, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28337764/a-national-french-noninterventional-study-to-assess-the-long-term-safety-and-efficacy-of-reformulated-nonacog-alfa
#2
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
#3
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/28332238/outcome-measures-for-adult-and-pediatric-hemophilia-patients-with-inhibitors
#4
REVIEW
Cedric Hermans, Günter Auerswald, Gary Benson, Gerry Dolan, Anne Duffy, Victor Jiménez-Yuste, Rolf Ljung, Massimo Morfini, Thierry Lambert, Mehdi Osooli, Silva Zupančić Šalek
Recent advancements in almost all aspects of hemophilia treatment have vastly improved patient care and management, and new and emerging treatments hold the promise of further progress. However, there remains a scarcity of data on long-term outcomes in hemophilia, particularly among those patients with inhibitors, for whom no validated outcome assessment tools are currently available. At the 15(th) Zürich Haemophilia Forum, an expert panel reviewed the most important outcome measures in inhibitor patients and considered the challenges associated with assessing outcomes in this population...
March 22, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28327546/missense-mutations-near-the-n-glycosylation-site-of-the-a2-domain-lead-to-various-intracellular-trafficking-defects-in-coagulation-factor-viii
#5
Wei Wei, Chunlei Zheng, Min Zhu, Xiaofan Zhu, Renchi Yang, Saurav Misra, Bin Zhang
Missense mutation is the most common mutation type in hemophilia. However, the majority of missense mutations remain uncharacterized. Here we characterize how hemophilia mutations near the unused N-glycosylation site of the A2 domain (N582) of FVIII affect protein conformation and intracellular trafficking. N582 is located in the middle of a short 310-helical turn (D580-S584), in which most amino acids have multiple hemophilia mutations. All 14 missense mutations found in this 310-helix reduced secretion levels of the A2 domain and full-length FVIII...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28326849/long-term-efficacy-and-safety-of-prophylaxis-with-rfviii-in-chinese-pediatric-patients-with-hemophilia-a-a-multi-center-retrospective-non-interventional-phase-iv-recare-study
#6
Changgang Li, Xinsheng Zhang, Yongqiang Zhao, Runhui Wu, Qun Hu, Vicky Xu, Jing Sun, Renchi Yang, Xiaojing Li, Rongfu Zhou, Shinmei Lian, Jian Gu, Junde Wu, Qingsong Hou
BACKGROUND: The first recombinant factor VIII (rFVIII) product was launched in China in 2007. However, till date, no study has been conducted to describe the efficacy and safety of prophylaxis with rFVIII in Chinese pediatric patients with hemophilia A (HA). OBJECTIVE: To summarize the efficacy and safety data of prophylaxis with rFVIII in Chinese pediatric patients with HA. METHODS: ReCARE (Retrospective study in Chinese pediatric hemophilia A patients with rFVIII contained regular prophylaxis) was a retrospective study conducted in 12 hemophilia treatment centers (HTC's) across China...
March 22, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28323492/regulatory-and-exhausted-t-cell-responses-to-aav-capsid
#7
Gwladys Gernoux, James M Wilson, Christian Mueller
Recombinant adeno-associated viruses 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 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...
March 21, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28321962/psychosocial-care-for-children-with-haemophilia-and-their-parents-in-the-netherlands
#8
REVIEW
P F Limperg, L Haverman, M Beijlevelt, M van der Pot, G Zaal, W A de Boer, K Fijnvandraat, M Peters, M A Grootenhuis
INTRODUCTION: Children growing up with haemophilia are at greater risk for psychosocial problems than their healthy peers. Providing psychosocial care to children with haemophilia and their families is indispensable, since psychosocial factors can have a significant impact on health and health-related quality of life (HRQOL). AIMS: Our aim was to give a description of psychosocial care provided by the multidisciplinary team of the Hemophilia Comprehensive Care Centre (HCCC) at the Emma Children's Hospital in Amsterdam, the Netherlands...
March 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28321438/a-case-of-hemophilia-a-presenting-in-a-neonate-and-a-review-of-the-literature
#9
Esther Kisseih, Neeraja Yerrapotu, Deepak Yadav, Melissa February
No abstract text is available yet for this article.
2017: Global Pediatric Health
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28299631/clinical-characteristics-and-outcomes-of-acquired-hemophilia-a-experience-at-a-single-center-in-japan
#16
Yoshiyuki Ogawa, Kunio Yanagisawa, Hideki Uchiumi, Takuma Ishizaki, Takeki Mitsui, Fumito Gouda, Masahiro Ieko, Akitada Ichinose, Yoshihisa Nojima, Hiroshi Handa
Acquired hemophilia A (AHA), which is caused by autoantibodies against coagulation factor VIII (FVIII) is a rare, life-threatening bleeding disorder, the incidence of which appears to be increasing in Japan as the population ages. However, the clinical characteristics, treatment, and outcomes of AHA remain difficult to establish due to the rarity of this disease. We retrospectively analyzed data from 25 patients (median age 73 years; range 24-92 years; male n = 15) diagnosed with AHA between 1999 and 2015 at Gunma University Hospital...
March 15, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28298793/perioperative-considerations-in-a-patient-with-hemophilia-a-a-case-report-and-review-of-literature
#17
Tuhin Mistry, Neelam Dogra, Kanchan Chauhan, Jigyasa Shahani
Classic hemophilia or hemophilia A is a congenital bleeding diathesis in which the affected individual may present with spontaneous hemorrhage or persistent bleeding even after minor trauma. Knowledge about the disease process, multidisciplinary team approach, and timely management can lead to favorable outcome in these patients. We report management of a child with hemophilia A for suturing of lacerated upper lip mucosa following trauma. A review of literature with recommendations for perioperative management, especially in the setting of emergency surgery, is also provided...
January 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28296129/comparing-thrombin-generation-in-patients-with-hemophilia-a-and-patients-on-vitamin-k-antagonists
#18
M L Y de Koning, K Fischer, B de Laat, A Huisman, M Ninivaggi, R E G Schutgens
BACKGROUND: It is unknown whether patients with hemophilia A with atrial fibrillation require treatment with vitamin K antagonists (VKA) to the same extent as the normal population. OBJECTIVE: To compare hemostatic potential in hemophilia patients and patients on VKA using thrombin generation (TG). METHODS: In this cross-sectional study, TG, initiated with 1pM tissue factor, was measured in 133 patients with severe (FVIII <1%, n=15) and non-severe (FVIII 1-50%, n=118) hemophilia A, 97 patients on VKA with an international normalized ratio (INR) ≥1...
March 15, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28295573/therapeutic-plasma-exchange-for-perioperative-management-of-patients-with-congenital-factor-xi-deficiency
#19
Mohamed S Alsammak, Aneel A Ashrani, Jeffrey L Winters, Rajiv K Pruthi
BACKGROUND: Factor XI (FXI) deficiency (hemophilia C [HEM-C]) is a bleeding disorder with unpredictable severity that correlates poorly with FXI coagulation activity (FXI:C). It poses a perioperative hemostatic management challenge. For US patients with severe disease, fresh frozen plasma (FFP) or, in current use, thawed plasma is the most readily available option but comes with risk of volume overload. We report our experience of using therapeutic plasma exchange (TPE) as an alternative perioperative management strategy...
March 15, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28286423/oligonucleotides-targeting-coagulation-factor-mrnas-use-in-thrombosis-and-hemophilia-research-and-therapy
#20
REVIEW
Marco Heestermans, Bart J M van Vlijmen
Small interfering (si) RNAs and antisense oligonucleotides (ASOs; here for simplicity reasons, both referred to as oligonucleotides) are small synthetic RNA or DNA molecules with a sequence complementary to a (pre)mRNA. Although the basic mechanisms of action between siRNAs and ASO are distinct, a sequence-specific interaction of the both oligonucleotides with the target (pre)mRNA alters the target's fate, which includes highly effective sequence-specific blockade of translation and consequently depletion of the corresponding protein...
2017: Thrombosis Journal
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