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https://www.readbyqxmd.com/read/29770199/emerging-therapies-for-hemophilia-controversies-and-unanswered-questions
#1
REVIEW
Valder R Arruda, Bhavya S Doshi, Benjamin J Samelson-Jones
Several new therapies for hemophilia have emerged in recent years. These strategies range from extended half-life factor replacement products and non-factor options with improved pharmacokinetic profiles to gene therapy aiming for phenotypic cure. While these products have the potential to change hemophilia care dramatically, several challenges and questions remain regarding broader applicability, long-term safety, and which option to pursue for each patient. Here, we review these emerging therapies with a focus on controversies and unanswered questions in each category...
2018: F1000Research
https://www.readbyqxmd.com/read/29765291/the-potential-close-future-of-hemophilia-treatment-gene-therapy-tfpi-inhibition-antithrombin-silencing-and-mimicking-factor-viii-with-an-engineered-antibody
#2
REVIEW
Wolfgang Korte, Lukas Graf
Summary Hemophilia is one of the best researched monogenic diseases. Hemophilia A will affect approximately 1:5,000 male live births. In recent decades, great progress has been made with the introduction of recombinant proteins in the 1990s for therapy and prophylaxis, securing adequate availability and, with the introduction of the prophylaxis concept, reducing the negative impact of hemophilia on morbidity (especially arthropathy). Despite this progress, there are still challenges to overcome to secure adequate prophylaxis and treatment: for the time being, causal pharmacological hemophilia prophylaxis and therapy requires repeated i...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29758989/the-double-hazard-of-bleeding-and-thrombosis-in-hemostasis-from-a-clinical-point-of-view-a-global-assessment-by-rotational-thromboelastometry-rotem
#3
Olga Meltem Akay
Hemostasis is a complex dynamic process involving bleeding and thrombosis as two end-points. Conventional coagulation tests which are measured in plasma examine only isolated portions of the coagulation cascade, thereby giving no information on important interactions essential to the clinical evaluation of hemostatic function. Thromboelastography (TEG), originally described in 1948 has improved over the decades and become a valuable tool of coagulation testing because of the limitations of standard coagulation tests...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29741261/new-challenges-and-best-practices-for-the-laboratory-monitoring-of-factor-viii-and-factor-ix-replacement
#4
REVIEW
D Van den Bossche, K Peerlinck, M Jacquemin
Several recombinant factor VIII and factor IX concentrates with extended half-life (EHL) have recently been validated by clinical studies. The availability of these novel concentrates is expected to significantly facilitate the treatment of patients with hemophilia A and B. However, the modification applied to these molecules has introduced variations in their activity measurement in routine coagulation assays. Depending on the assays, underestimations of up to 10-fold or overestimations of up to approximately 30-fold in the measurements of the recovery have been reported in some factor concentrates...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29732985/treatment-of-chronic-articular-pain-in-adults-with-hemophilia
#5
E Carlos Rodriguez-Merchan
INTRODUCTION: Adult people with hemophilia (PWH) mainly use Factor VIII/Factor IX (FVIII/FIX) to lessen chronic articular pain, followed in frequency by nonsteroidal anti-inflammatory drugs. Analgesics are used by only one-third of adult PWH. Limitations in activities of daily living are encountered in the large majority of PWH, and most describe pain as affecting their state of mind. A review of the literature on their treatment is important because chronic pain in adult PWH is often undertreated or wrongly treated, causing psychological problems for these patients...
May 3, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29722575/isolated-intra-articular-injections-of-hyaluronic-acid-or-corticosteroids-or-combined-with-joint-lavage-in-patients-with-severe-hemophilic-arthropathy-of-the-knee-are-any-of-these-interventions-really-effective
#6
Emerito Carlos Rodriguez-Merchan, Leonard A Valentino
The aim of this review is to explore the scientific rationale and evidence for a potential benefit of joint lavage followed by intra-articular injection of hyaluronic acid and/or corticosteroids in patients with severe hemophilic arthropathy of the knee (SHAK). Areas covered: This article is a narrative review of the evidence for potential benefits of joint lavage followed by intra-articular injection of hyaluronic acid and corticosteroids in SHAK compared with osteoarthritis of the knee in non-hemophilia patients...
May 3, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29695583/relevance-of-abusive-head-trauma-to-intracranial-hemorrhages-and-bleeding-disorders
#7
James D Anderst, Shannon L Carpenter, Rodney Presley, Molly Curtin Berkoff, Allison P Wheeler, Robert F Sidonio, J Michael Soucie
BACKGROUND: Bleeding disorders and abusive head trauma (AHT) are associated with intracranial hemorrhage (ICH), including subdural hemorrhage (SDH). Because both conditions often present in young children, the need to screen for bleeding disorders would be better informed by data that include trauma history and are specific to young children. The Universal Data Collection database contains information on ICH in subjects with bleeding disorders, including age and trauma history. Study objectives were to (1) characterize the prevalence and calculate the probabilities of any ICH, traumatic ICH, and nontraumatic ICH in children with congenital bleeding disorders; (2) characterize the prevalence of spontaneous SDH on the basis of bleeding disorder; and (3) identify cases of von Willebrand disease (vWD) that mimic AHT...
April 25, 2018: Pediatrics
https://www.readbyqxmd.com/read/29624465/practical-implications-of-factor-ix-gene-transfer-for-individuals-with-hemophilia-b-a-clinical-perspective
#8
Wolfgang Miesbach, Eileen K Sawyer
Gene therapy for severe hemophilia is on the cusp of entering clinical practice. However, there is limited clinical experience in this area given that gene transfer is a relatively recent technology. Therefore, this clinical perspective article will review the evidence supporting gene therapy in this field, examine ways to open a dialogue about gene therapy with patients in the clinic setting, and present a case of a participant in a recent clinical trial of gene therapy for hemophilia. Clinical trials in hemophilia using adeno-associated virus (AAV) vectors to transfer functional factor IX (FIX) have reported increases in FIX activity to functional levels, reduced bleed frequency, and a lessening or abrogation of the need for costly FIX replacement...
April 6, 2018: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29588277/tolerogenic-properties-of-fc-portion-of-igg-and-its-relevance-to-the-treatment-and-management-of-hemophilia
#9
Richard S Blumberg, David Lillicrap
Hemophilia, or inherited genetic deficiencies in coagulation factors result in uncontrolled bleeding requiring replacement therapy with recombinant proteins given preventively or on-demand. However, a major problem with these approaches is the potential for development of immune responses to the administered proteins due to the underlying genetic deficiency of the factor(s) throughout life. As such, there is great interest in developing strategies that avoid immunogenicity and induce immune tolerance. Recently, recombinant Factor VIII and Factor IX fused to the Fc domain of IgG have been developed as therapeutic agents for hemophilia A and B, respectively...
March 27, 2018: Blood
https://www.readbyqxmd.com/read/29576315/liver-induced-transgene-tolerance-with-aav-vectors
#10
REVIEW
Geoffrey D Keeler, David M Markusic, Brad E Hoffman
Immune tolerance is a vital component of immunity, as persistent activation of immune cells causes significant tissue damage and loss of tolerance leads to autoimmunity. Likewise, unwanted immune responses can occur in inherited disorders, such as hemophilia and Pompe disease, in which patients lack any expression of protein, during treatment with enzyme replacement therapy, or gene therapy. While the liver has long been known as being tolerogenic, it was only recently appreciated in the last decade that liver directed adeno-associated virus (AAV) gene therapy can induce systemic tolerance to a transgene...
December 5, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29554171/treatment-of-melasma-using-tranexamic-acid-what-s-known-and-what-s-next
#11
Sarah L Sheu
Tranexamic acid is a procoagulant agent that is approved by the US Food and Drug Administration for treatment of menorrhagia and to prevent hemorrhage in patients with hemophilia undergoing tooth extractions. Through its inhibitory effects on the plasminogen activation pathway, tranexamic acid also mitigates the UV radiation-induced pigmentation response. Systemic tranexamic acid has consistently been reported as an effective treatment of melasma, though its broad use may be limited by the risk for thromboembolism...
February 2018: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29544691/f8-inversions-of-introns-22-and-1-confer-a-moderate-risk-of-inhibitors-in-mexican-patients-with-severe-hemophilia-a-concordance-analysis-and-literature-review
#12
Hilda Luna-Záizar, José Ángel González-Alcázar, Natalia Evangelista-Castro, Lilia Beatriz Aguilar-López, Sandra Luz Ruiz-Quezada, Claudia Patricia Beltrán-Miranda, Ana Rebeca Jaloma-Cruz
Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development. We aimed to investigate prevalence of Inv22 and Inv1 mutations, and its association as risk factors for developing inhibitors to FVIII. We investigated Inv22 and Inv1 in 255 SHA Mexican patients from 193 unrelated families using the inverse shifting-polymerase chain reaction (IS-PCR)...
February 23, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29520794/critical-developments-of-2017-a-review-of-the-literature-from-selected-topics-in-transfusion-a-committee-report-from-the-aabb-clinical-transfusion-medicine-committee
#13
Melissa M Cushing, James Kelley, Ellen Klapper, David F Friedman, Ruchika Goel, Nancy M Heddle, Courtney K Hopkins, Julie Katz Karp, Monica B Pagano, Ajay Perumbeti, Glenn Ramsey, John D Roback, Joseph Schwartz, Beth H Shaz, Philip C Spinella, Claudia S Cohn, Claudia S Cohn, Melissa M Cushing, James Kelley, Ellen Klapper
BACKGROUND: The AABB compiles an annual synopsis of the published literature covering important developments in the field of Transfusion Medicine. For the first time, an abridged version of this work is being made available in TRANSFUSION, with the full-length report available as an Appendix S1 (available as supporting information in the online version of this paper). STUDY DESIGN AND METHODS: Papers published in 2016 and early 2017 are included, as well as earlier papers cited for background...
April 2018: Transfusion
https://www.readbyqxmd.com/read/29520365/platelet-targeted-gene-therapy-for-hemophilia
#14
REVIEW
Qizhen Shi
Gene therapy is an attractive approach for disease treatment. Since platelets are abundant cells circulating in blood with the distinctive abilities of storage and delivery and fundamental roles in hemostasis and immunity, they could be a unique target for gene therapy of diseases. Recent studies have demonstrated that ectopic expression of factor VIII (FVIII) in platelets under control of the platelet-specific promoter results in FVIII storage together with its carrier protein von Willebrand factor (VWF) in α-granules and the phenotypic correction of hemophilia A...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29484705/what-should-be-the-laboratory-approach-against-isolated-prolongation-of-a-activated-partial-thromboplastin-time
#15
Mesude Falay, Mehmet Senes, Dogan Yücel, Turan Turhan, Simten Dagdaş, Melike Pekin, Namik K Nazaroglu, Gülsüm Özet
BACKGROUND: This study is a retrospective evaluation of patients who were subject to mixing study in our laboratory due to prolonged APTT. The preliminary diagnoses, clinical manifestations, and results of additional ordered tests were reviewed. The study aims to investigate whether repeating APTT test with a different assay prior to performing mixed study in patients with prolonged APTT would be a better alternative algorithmic approach in order to save both time and costs. METHODS: We retrospectively evaluated 166 patients (65 females and 101 males) who were subject to mixing study due to isolated prolonged APTT...
February 27, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29482894/review-of-immune-tolerance-induction-in-hemophilia-a
#16
REVIEW
S J Schep, R E G Schutgens, K Fischer, M L Boes
At first sight the bleeding disorder hemophilia A seems to have little in common with immune disorders, but immunology research intersects with other disciplines including hematology. Nowadays, the most important complication in the treatment of hemophilia A is the development of neutralizing antibodies (inhibitors) against exogenous administered factor VIII (FVIII), which occurs in approximately 30% of all patients with severe hemophilia A. This antibody response renders FVIII replacement therapy ineffective, thereby increasing the risk for uncontrollable bleeding and morbidity, decreasing quality of life and increasing healthcare costs...
February 15, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29446741/what%C3%A2-s-new-in-gene-therapy-of-hemophilia
#17
E Carlos Rodriguez-Merchan
BACKGROUND: Several methods have been investigated to effectively and safely transmit genes that stimulate cells to release therapeutic factor VIII (FVIII) and factor IX (FIX) into the circulation of people with hemophilia (PWH). OBJECTIVE: To review the role of gene therapy (GT) in PWH. METHODS: A Cochrane Library and PubMed (MEDLINE) search related to the role of GT in hemophilia was analyzed. RESULTS: The most promising vectors for hemophilia GT are adeno-associated virus (AAV) and lentivirus...
February 14, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29426727/setting-the-stage-for-individualized-therapy-in-hemophilia-what-role-can-pharmacokinetics-play
#18
REVIEW
H C A M Hazendonk, I van Moort, R A A Mathôt, K Fijnvandraat, F W G Leebeek, P W Collins, M H Cnossen
Replacement therapy with clotting factor concentrates (CFC) is the mainstay of treatment in hemophilia. Its widespread application has led to a dramatic decrease in morbidity and mortality in patients, with concomitant improvement of quality of life. However, dosing is challenging and costs are high. This review discusses benefits and limitations of pharmacokinetic (PK)-guided dosing of replacement therapy as an alternative for current dosing regimens. Dosing of CFC is now primarily based on body weight and based on its in vivo recovery (IVR)...
January 31, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29387330/novel-therapies-and-current-clinical-progress-in-hemophilia-a
#19
REVIEW
Pauline Balkaransingh, Guy Young
The evolution of hemophilia treatment and care is a fascinating one but has been fraught with many challenges at every turn. Over the last 50 years or so patients with hemophilia and providers have witnessed great advances in the treatment of this disease. With these advances, there has been a dramatic decrease in the mortality and morbidity associated with hemophilia. Even with the remarkable advancements in treatment, however, new and old challenges continue to plague the hemophilia community. The cost of factor replacement and the frequency of infusions, especially in patients with severe hemophilia on prophylaxis, remains a significant challenge for this population...
February 2018: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/29386868/american-society-of-hematology
#20
Walter Alexander
We review key sessions on Hodgkin's lymphoma, diffuse large B-cell lymphoma, thromboembolism, hemophilia, sickle cell disease, and chronic lymphocytic leukemia.
February 2018: P & T: a Peer-reviewed Journal for Formulary Management
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