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Hemophilia A

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https://www.readbyqxmd.com/read/28534860/hemophilia-care-in-the-pediatric-age
#1
REVIEW
Marta Bertamino, Francesca Riccardi, Laura Banov, Johanna Svahn, Angelo Claudio Molinari
Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures-for example, tonsillectomy or circumcision...
May 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28532688/progress-in-the-contemporary-management-of-hemophilia-the-new-issue-of-patient-aging
#2
REVIEW
Pier Mannuccio Mannucci, Massimo Iacobelli
The management of inherited coagulation disorders such as hemophilia A and B has witnessed dramatic progresses since the last few decades of the last century. Accordingly, persons with hemophilia (PWH) now enjoy a life expectancy at birth not different from that of males in the general population, at least in high income countries. Nowadays, a substantial proportion of PWH are aging, like their peers in the general population. This outstanding progress is accompanied by problems that are in part similar to those of any old person (multiple concomitant diseases and the resulting intake of multiple drugs other than those specific for hemophilia treatment)...
May 20, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28532239/status-and-trend-analysis-of-prophylactic-usage-of-recombinant-factor-viii-in-chinese-pediatric-patients-with-hemophilia-a-recare-a-retrospective-phase-iv-non-interventional-study
#3
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: No study has reported the status and chronological trend of prophylactic recombinant factor VIII (rFVIII) use in Chinese pediatric patients with hemophilia A (HA). OBJECTIVE: We aimed to analyze the status and trend of rFVIII-contained prophylaxis 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 across China...
May 22, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28530647/stage-of-liver-fibrosis-in-patients-with-congenital-bleeding-disorders-and-infected-with-hepatitis-c-virus
#4
Marta Kucharska, Urszula Zaleska-Dorobisz, Aleksandra Szymczak, Marcin Inglot, Weronika Rymer, Małgorzata Zalewska, Krzysztof Małyszczak, Małgorzata Kuliszkiewicz-Janus, Małgorzata Inglot
INTRODUCTION    Hepatitis C virus (HCV) is the major cause of chronic liver disease in patients with hemophilia. As liver biopsy should not be routinely used in them, possibilities of accurate assessment of the fibrosis stage have been very limited until recently. OBJECTIVES    The aim of the study was to determine the stage of liver fibrosis in HCV-infected hemophiliacs with use of non-invasive methods of fibrosis assessment and to analyze the influence of risk factors on liver fibrosis.  PATIENTS AND METHODS    The study included 71 HCV-infected patients with hemophilia and other congenital bleeding disorders...
May 22, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28530135/prolonged-expression-of-secreted-enzymes-in-dogs-after-liver-directed-delivery-of-i-sleeping-beauty-i-transposons-implications-for-non-viral-gene-therapy-of-systemic-disease
#5
Elena L Aronovich, Kendra Anne Hyland, Bryan C Hall, Jason B Bell, Erik R Olson, Myra Urness Rusten, David W Hunter, N Matthew Ellinwood, R Scott McIvor, Perry B Hackett
The non-viral, integrating Sleeping Beauty (SB) transposon system is efficient in treating systemic monogenic disease in mice including hemophilias A and B caused by deficiency of blood clotting factors and mucopolysaccharidosis (MPS) types I and VII caused by α-L-iduronidase (IDUA) and β-glucuronidase (GUSB) deficiency, respectively. We recently reported modified approaches of the hydrodynamics-based procedure to deliver transposons to the liver in dogs. Using the transgenic canine reporter secreted alkaline phosphatase (cSEAP), we demonstrated transgenic protein in the plasma for up to six weeks post-infusion...
May 20, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28529666/a-microfluidic-model-of-hemostasis-sensitive-to-platelet-function-and-coagulation
#6
R M Schoeman, K Rana, N Danes, M Lehmann, J A Di Paola, A L Fogelson, K Leiderman, K B Neeves
Hemostasis is the process of sealing a vascular injury with a thrombus to arrest bleeding. The type of thrombus that forms depends on the nature of the injury and hemodynamics. There are many models of intravascular thrombus formation whereby blood is exposed to prothrombotic molecules on a solid substrate. However, there are few models of extravascular thrombus formation whereby blood escapes into the extravascular space through a hole in the vessel wall. Here, we describe a microfluidic model of hemostasis that includes vascular, vessel wall, and extravascular compartments...
February 2017: Cellular and Molecular Bioengineering
https://www.readbyqxmd.com/read/28525200/-von-willebrand-disease-type-3-falsely-diagnosed-as-hemophilia-a-a-case-report
#7
D Benlaldj, M A Moueden, F Seghier
The von Willebrand disease type 3 can be confused with hemophilia A because a very low level of factor VIIIC, we will report the case of patient with von Willebrand disease type 3 treated as moderate hemophilia A.
2017: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/28523993/acquired-hemophilia-as-initial-presentation-in-a-patient-with-systemic-lupus-erythematosus
#8
Zohre Khodamoradi, Mohammad Ali Nazarinia, Somaye Bazdar
BACKGROUND: Acquired hemophilia is a rare bleeding disease but may be associated with some autoimmune diseases. Acquired hemophilia may be the result of autoantibodies against factor VIII. CASE PRESENTATION: In this study, we describe a 55 year old patient who developed hematoma and hematuria due to acquired hemophilia secondary to systemic lupus erythematosus(SLE). Then, she developed arthritis and thrombosis after some evaluation. Laboratory data showed prolonged aPTT, normal PT and platelet, low FVIII, high FVIII inhibitor, ANA, anti-ds-DNA and anti-cardiolipin...
May 19, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28516863/sporadic-creutzfeldt-jakob-disease-in-2-plasma-product-recipients-united-kingdom
#9
Patrick Urwin, Kumar Thanigaikumar, James W Ironside, Anna Molesworth, Richard S Knight, Patricia E Hewitt, Charlotte Llewelyn, Jan Mackenzie, Robert G Will
Sporadic Creutzfeldt-Jakob disease (sCJD) has not been previously reported in patients with clotting disorders treated with fractionated plasma products. We report 2 cases of sCJD identified in the United Kingdom in patients with a history of extended treatment for clotting disorders; 1 patient had hemophilia B and the other von Willebrand disease. Both patients had been informed previously that they were at increased risk for variant CJD because of past treatment with fractionated plasma products sourced in the United Kingdom...
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28516358/mechanistic-modeling-of-the-pharmacodynamic-and-pharmacokinetic-relationship-of-tissue-factor-pathway-inhibitor-neutralizing-antibody-bay-1093884-in-cynomolgus-monkeys
#10
Jian-Ming Gu, Xiao-Yan Zhao, Thomas Schwarz, Joachim Schuhmacher, Andreas Baumann, Elena Ho, Babu Subramanyan, Kathy Tran, Timothy Myles, Chandra Patel, Maria Koellnberger
BAY 1093884 is a fully human monoclonal antibody against the tissue factor pathway inhibitor (TFPI) in development as prophylaxis in patients with hemophilia with or without inhibitors. In vitro, BAY 1093884 binds to human, mouse, and monkey TFPI. The objective of this study was to find a pharmacodynamic (PD) biomarker after administration of BAY 1093884 to normal monkeys. In monkey plasma, BAY 1093884 exhibited an IC50 (concentration that inhibits 50%) of 4.65 and 6.19 nM for free TFPI and diluted prothrombin time (dPT), respectively...
May 17, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28508290/crispr-cas9-mediated-somatic-and-germline-gene-correction-to-restore-hemostasis-in-hemophilia-b-mice
#11
Cong Huai, Chenqiang Jia, Ruilin Sun, Peipei Xu, Taishan Min, Qihan Wang, Chengde Zheng, Hongyan Chen, Daru Lu
Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correction in an F9 mutant HB mouse model in both adult mice (in vivo) and in germline cells (ex vivo). In vivo, naked Cas9-sgRNA plasmid and donor DNA were delivered to HB mice livers to recover the mutation via hydrodynamic tail vein (HTV) injection...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28507083/frequency-and-epitope-specificity-of-anti-factor-viii-c1-domain-antibodies-in-acquired-and-congenital-hemophilia-a
#12
Joerg Kahle, Aleksander Orlowski, Diana Stichel, John F Healey, Ernest T Parker, Marc Jaquemin, Manuela Krause, Andreas Tiede, Dirk Schwabe, Pete Lollar, Christoph Königs
Several studies showed that neutralizing anti-factor VIII (fVIII) antibodies (inhibitors) in patients with acquired hemophilia A (AHA) and congenital hemophilia A (HA) are primarily directed to the A2 and C2 domains. In this study the frequency and epitope specificity of anti-C1 antibodies were analyzed in acquired and congenital hemophilia inhibitor patients (n=178). The domain specificity of antibodies was studied by homologue-scanning mutagenesis (HSM) with single human domain human/porcine fVIII proteins and antibody binding to human A2, C1 and C2 domains presented as human serum albumin (HSA) fusion proteins...
May 15, 2017: Blood
https://www.readbyqxmd.com/read/28491266/point-of-care-ultrasonography-pocus-in-hemophilia-a-a-commentary-on-current-status-and-its-potential-role-for-improving-prophylaxis-management-in-severe-hemophilia-a
#13
REVIEW
Suchitra S Acharya, Brittny Rule, Omar McMillan, Thomas J Humphries
In patients with severe hemophilia A, recurrent bleeding into joints results in increased morbidity and reduced quality of life. Prophylaxis using replacement factor products, especially when initiated early, has established benefits in terms of reducing joint bleeds and preserving joint function. Poor adherence to prophylactic regimens is a common cause for breakthrough bleeds and resultant arthropathy. Improving prophylaxis management, especially in the transitional age group, is a challenge. Here, we discuss the current status of ultrasonography (US) in hemophilia A, challenges in its wider implementation, and the potential for use of point-of-care US (POCUS) as an adjunct in the routine management of patients with hemophilia following prophylaxis regimens...
April 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28490568/noninvasive-detection-of-f8-int22h-related-inversions-and-sequence-variants-in-maternal-plasma-of-hemophilia-carriers
#14
Irena Hudecova, Peiyong Jiang, Joanna Davies, Y M Dennis Lo, Rezan A Kadir, Rossa W K Chiu
Direct detection of F8 and F9 sequence variants in maternal plasma of hemophilia carriers has been demonstrated by microfluidics digital PCR. Noninvasive prenatal assessment of the most clinically relevant group of sequence variants among hemophilia patients, namely those involving int22h-related inversions disrupting the F8 gene, poses additional challenges due to its molecular complexity. We investigated the use of droplet digital PCR (ddPCR) and targeted massively parallel sequencing (MPS) for maternal plasma DNA analysis to noninvasively determine fetal mutational status in pregnancies at risk for hemophilia...
May 10, 2017: Blood
https://www.readbyqxmd.com/read/28480313/an-immune-competent-murine-model-to-study-elimination-of-aav-transduced-hepatocytes-by-capsid-specific-cd8-t-cells
#15
Brett Palaschak, Damien Marsic, Roland W Herzog, Sergei Zolotukhin, David M Markusic
Multiple independent adeno-associated virus (AAV) gene therapy clinical trials for hemophilia B, utilizing different AAV serotypes, have reported a vector dose-dependent loss of circulating factor IX (FIX) protein associated with capsid-specific CD8(+) T cell (Cap-CD8) elimination of transduced hepatocytes. Hemophilia B patients who develop transient transaminitis and loss of FIX protein may be stabilized with the immune-suppressive (IS) drug prednisolone, but do not all recover lost FIX expression, whereas some patients fail to respond to IS...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28480307/immune-modulatory-cell-therapy-for-hemophilia-b-based-on-cd20-targeted-lentiviral-gene-transfer-to-primary-b-cells
#16
Xiaomei Wang, Roland W Herzog, Barry J Byrne, Sandeep R P Kumar, Qi Zhou, Christian J Buchholz, Moanaro Biswas
Gene-modified B cells expressing immunoglobulin G (IgG) fusion proteins have been shown to induce tolerance in several autoimmune and other disease models. However, lack of a vector suitable for gene transfer to human B cells has been an obstacle for translation of this approach. To overcome this hurdle, we developed an IgG-human factor IX (hFIX) lentiviral fusion construct that was targeted to specifically transduce cells expressing human CD20 (hCD20). Receptor-specific retargeting by mutating envelope glycoproteins of measles virus (MV)-lentiviral vector (LV) and addition of a single-chain variable fragment specific for hCD20 resulted in gene delivery into primary human and transgenic hCD20 mouse B cells with high specificity...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28478688/gene-delivery-of-activated-factor-vii-using-alternative-aav-serotype-improves-hemostasis-in-hemophiliac-mice-with-fviii-inhibitors-and-aav-neutralizing-antibodies
#17
Junjiang Sun, Baolai Hua, R Jude Samulski, Chengwen Li
While therapeutic expression of coagulation factors from adeno-associated virus (AAV) vectors has been successfully achieved in patients with hemophilia, neutralizing antibodies to the vector and inhibitory antibodies to the transgene severely limit efficacy. Indeed, approximately 40% of mice transduced with human Factor VIII using the AAV8 serotype developed inhibitory antibodies to Factor VIII (FVIII inhibitor), as well as extremely high titers (≥ 1:500) of neutralizing antibodies to AAV8. To correct hemophilia in these mice we used AAV9, a serotype with low in vitro cross-reactivity (≤ 1:5) to anti-AAV8, to deliver mouse activated Factor VII (mFVIIa)...
May 6, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28474658/spontaneous-massive-hemopneumothorax-double-trouble-with-a-twist
#18
Milta Kuriakose, Arjun Khanna, Deepak Talwar
Spontaneous hemopneumothorax (SHP) is observed in 3%-7% cases of spontaneous pneumothorax where the tear of an adhesion can lead to bleeding with associated hemothorax. This condition has been reported in patients with hemophilia, sarcoidosis, congenital cystic adenomatoid malformation, systemic lupus erythematosus, etc., Here, we describe an unusual case of acute massive SHP in a 62-year-old male who underwent a percutaneous transluminal coronary angioplasty (PTCA) and presented with worsening dyspnea over the next 3 days...
May 2017: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/28470674/acquired-hemophilia-a-updated-review-of-evidence-and-treatment-guidance
#19
REVIEW
Rebecca Kruse-Jarres, Christine L Kempton, Francesco Baudo, Peter W Collins, Paul Knoebl, Cindy A Leissinger, Andreas Tiede, Craig M Kessler
Acquired hemophilia A (AHA) is a rare disease resulting from autoantibodies (inhibitors) against endogenous factor VIII (FVIII) that leads to bleeding, which is often spontaneous and severe. AHA tends to occur in elderly patients with comorbidities and is associated with high mortality risk from underlying comorbidities, bleeding, or treatment complications. Treatment, which consists of hemostatic management and eradication of the inhibitors, can be challenging to manage. Few data are available to guide the management of AHA-related bleeding and eradication of the disease-causing antibodies...
May 3, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28460646/evaluation-of-engineered-aav-capsids-for-hepatic-factor-ix-gene-transfer-in-murine-and-canine-models
#20
David M Markusic, Timothy C Nichols, Elizabeth P Merricks, Brett Palaschak, Irene Zolotukhin, Damien Marsic, Sergei Zolotukhin, Arun Srivastava, Roland W Herzog
BACKGROUND: Adeno-associated virus (AAV) gene therapy vectors have shown the best outcomes in human clinical studies for the treatment of genetic diseases such as hemophilia. However, these pivotal investigations have also identified several challenges. For example, high vector doses are often used for hepatic gene transfer, and cytotoxic T lymphocyte responses against viral capsid may occur. Therefore, achieving therapy at reduced vector doses and other strategies to reduce capsid antigen presentation are desirable...
May 1, 2017: Journal of Translational Medicine
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