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Hemophilia A

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
Harrison C Brown, Philip M Zakas, Stephan N George, Ernest T Parker, H Trent Spencer, Christopher B Doering
Potency is a key optimization parameter for hemophilia A gene therapy product candidates. Optimization strategies include promoter engineering to increase transcription, codon optimization of mRNA to improve translation, and amino-acid substitution to promote secretion. Herein, we describe both rational and empirical design approaches to the development of a minimally sized, highly potent AAV-fVIII vector that incorporates three unique elements: a liver-directed 146-nt transcription regulatory module, a target-cell-specific codon optimization algorithm, and a high-expression bioengineered fVIII variant...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
W Zhang, J H Mao
No abstract text is available yet for this article.
January 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Elena Donoso-Úbeda, Javier Meroño-Gallut, José Antonio López-Pina, Rubén Cuesta-Barriuso
BACKGROUND: Hemophilic arthropathy is characterized by loss of function and chronic pain. Fascial therapy mobilizes the connective tissue, intervening in the state of the injured fascial complex and the surrounding tissues. OBJECTIVES: The aim of this study is to evaluate the safety of a physiotherapy program through fascial therapy in adult patients with hemophilic ankle arthropathy. DESIGN: Prospective cohort study. METHODS: Twenty-three adult patients with hemophilia from 26 to 65 years of age were recruited...
March 12, 2018: Musculoskeletal Science & Practice
Jae-Il Lee, Yun-Jung Choi, Hi-Jung Park, Kyeong Cheon Jung, Seong Hoe Park
Antibody formation against therapeutic agents, such as tumor necrosis factor inhibitors and Factor VIII, that leads to treatment failure has become a major challenge in the treatment of rheumatoid arthritis and hemophilia. It is well known that anti-CD154 antibodies have the highest potential to inhibit these types of adverse immune responses. Nevertheless, the formation of thromboemboli is the major hurdle in the clinical application of these anti-CD154 blocking antibodies. For this, we attempted to derive an idea as to how this major complication can be eliminated...
March 16, 2018: Biochemical and Biophysical Research Communications
Bertrand Jordan
Recent efforts at gene therapy for haemophilia A and B using AAV-derived vectors show durable expression of coagulation factors at significant levels, resulting in almost complete correction of the phenotype. This is the first success of gene therapy for a major hereditary disorder, and shows how continuous improvement of many components of the system has finally succeeded. Although these results must be confirmed with more patients and longer durations, they constitute a significant accomplishment for this approach after decades of frustration...
March 2018: Médecine Sciences: M/S
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
Vo Truong Nhu Ngoc, Trinh Do Van Nga, Dinh-Toi Chu, Le Quynh Anh
Hemophilia-a bleeding disorder due to the lack of clotting factors-is mostly induced by genetic factors. Its most common type is hemophilia A. Hemorrhage in hemophilia A may occur in several different sites of the body, including those inside the oral cavity, such as mucous membrane and gum. However, only a few studies and case reports on dental issues of hemophilia A patients have been conducted. In clinical dentistry, treatment procedures are invasive, possibly leading to more severe bleeding, especially in hemophilia A cases...
March 14, 2018: Special Care in Dentistry
G F Pierce, A Haffar, G Ampartzidis, F Peyvandi, S Diop, M El-Ekiaby, H M van den Berg
INTRODUCTION: The gaps in haemophilia treatment around the world are enormous; approximately 60% of an estimated 475 000 individuals are not identified. Of the 187 000 diagnosed, 30% (57 000) access clotting factor replacement therapy. Since 1996, humanitarian aid distributed by the World Federation of Hemophilia (WFH) has played a minor, yet vital role providing life-saving clotting factor to countries in emergency situations. Donated amounts have been small and sporadic, often salvaging short-dated products, providing little opportunity to leverage donations with governments...
March 14, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
T Preijers, I van Moort, K Fijnvandraat, F W G Leebeek, M H Cnossen, R A A Mathôt
BACKGROUND:  Patients with severe and moderate haemophilia A are treated prophylactically with factor VIII (FVIII) concentrate. Individualization of prophylaxis can be achieved by pharmacokinetic (PK)-guided dosing. AIM:  In this study, the performance of three PK tools (myPKFiT, Web-Accessible Population Pharmacokinetic Service-Hemophilia [WAPPS] and NONMEM) is compared. METHODS:  In 39 patients, with severe or moderate haemophilia A, blood samples were collected 4, 24 and 48 hours after administration of 50 IU kg-1 of recombinant FVIII (Advate [ n  = 30] or Kogenate [ n  = 9])...
March 2018: Thrombosis and Haemostasis
Kazuhiro Toyama, Atsushi Yasumoto, Fumihiko Nakamura, Shunya Arai, Mineo Kurokawa
Acquired hemophilia A (AHA) is a hemorrhagic disorder. Whether or not severe thrombotic events can develop without the use of bypassing agents in AHA patients is unclear. An 80-year-old woman with AHA underwent immunosuppressive therapy with prednisolone at 1 mg/kg daily. After achieving remission, she suddenly developed multiple organ failure due to acute systemic thrombosis and died within a few hours of the diagnosis. Patients with AHA, especially those with risk factors for thrombosis, have a considerable risk of developing thrombosis during the recovery phase of factor VIII activity and should be carefully monitored by coagulation testing...
March 9, 2018: Internal Medicine
Jenny Chia, Jade Louber, Isabelle Glauser, Shirley Taylor, Greg T Bass, Steve K Dower, Paul A Gleeson, Anne M Verhagen
The neonatal Fc receptor (FcRn) has a pivotal role in albumin and IgG homeostasis. Internalized IgG captured by FcRn under acidic endosomal conditions is recycled to the cell surface where exocytosis and a shift to neutral pH promote extracellular IgG release. Although a similar mechanism is proposed for FcRn-mediated albumin intracellular trafficking and recycling, this pathway is less well defined, but is relevant to the development of therapeutics exploiting FcRn to extend the half-life of short-lived plasma proteins...
March 9, 2018: Journal of Biological Chemistry
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...
March 9, 2018: Transfusion
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
Adriana Aparecida Ferreira, Isabel Cristina Gonçalves Leite, Natalie August Duncan
INTRODUCTION: Prophylaxis is the treatment of choice for patients with severe hemophilia. Low adherence may limit the effectiveness of the prophylactic regimen, thereby compromising outcomes. OBJECTIVE: The objective of this study was to validate the Brazilian version of the VERITAS-Pro prophylaxis adherence scale, originally an American questionnaire that can be answered by the individual responsible for prophylaxis as well as by an observer. METHODS: The scale has 24 questions divided into six subscales: Routine, Dosage, Plan, Remember, Skip and Communicate...
January 2018: Revista Brasileira de Hematologia e Hemoterapia
Andrzej B Szczepanik, Konrad Pielaciński, Anna M Oses-Szczepanik, Sławomir Huszcza, Andrzej Misiak, Wojciech P Dąbrowski, Sławomir Gajda
INTRODUCTION: Bleeding from esophageal varices is a serious clinical condition in hemophilia patients due to congenital deficiency or lack of clotting factors VIII (in hemophilia A) and IX (in hemophilia B), decreased clotting factor II, VII, IX, X synthesis in the course of chronic liver disease and hipersplenic thrombocytopenia. The aim of this study was to assess the efficacy and safety of endoscopic sclerotherapy in acute esophageal variceal bleeding and in secondary prophylaxis of hemorrhage...
February 28, 2018: Polski Przeglad Chirurgiczny
Robert A French, Benjamin J Samelson-Jones, Glenn P Niemeyer, Clinton D Lothrop, Elizabeth P Merricks, Timothy C Nichols, Valder R Arruda
No abstract text is available yet for this article.
March 13, 2018: Blood Advances
Tyler W Buckner, Katharine Batt, David L Cooper, Christine L Kempton
People with hemophilia frequently suffer from arthropathy that leads to pain and functional impairment, ultimately resulting in reduced quality of life. The impact of pain and functional impairment on the lives of people with hemophilia was explored in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study. Various patient-reported outcome (PRO) instruments were employed to assess the effect of pain and functional impairment on multiple aspects of health in people with hemophilia. The results presented in this supplement include detailed observations from PRO instruments regarding pain, functional impairment, anxiety, and depression, an analysis of the differences in health-related quality of life across subgroups of patients defined by demographic and treatment-related characteristics, and results of a modeling analysis to identify patient factors which influence perceptions of pain and functional impairment, independent of joint status...
April 2018: European Journal of Haematology
Tyler W Buckner, Katharine Batt, Doris Quon, Michelle Witkop, Michael Recht, Craig Kessler, Kimberly Baumann, Grace Hernandez, Michael Wang, David L Cooper, Christine L Kempton
INTRODUCTION: Pain, functional impairment, anxiety, and depression associated with joint disease may affect health-related quality of life (HRQoL) in people with hemophilia. OBJECTIVE: To report detailed patient-reported outcomes (PRO) assessments related to HRQoL in participants in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study. METHODS: Pain and HRQoL were assessed via PRO instruments in US adult males with hemophilia A or B and a history of joint pain or bleeding...
April 2018: European Journal of Haematology
Katharine Batt, Lisa Boggio, Anne Neff, Tyler W Buckner, Michael Wang, Doris Quon, Michelle Witkop, Michael Recht, Craig Kessler, Neeraj N Iyer, David L Cooper
INTRODUCTION: Pain and functional impairment associated with joint disease are major problems for people with hemophilia, and impact on health-related quality of life (HRQoL) may vary across groups defined by demographic and treatment-related characteristics. OBJECTIVE: To evaluate differences in overall HRQoL, pain, function, and joint status between P-FiQ study subgroups. METHODS: Adult males with hemophilia and a history of joint pain/bleeding completed a pain history and the patient-reported outcome instruments EQ-5D-5L, Brief Pain Inventory v2 Short Form (BPI), International Physical Activity Questionnaire (IPAQ), and Hemophilia Activities List (HAL); optionally, joint status was assessed (Hemophilia Joint Health Score v2...
April 2018: European Journal of Haematology
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