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https://www.readbyqxmd.com/read/28820407/-evaluation-of-parameters-of-hemostasis-in-the-third-trimester-in-pregnant-women-with-congen%C3%A4-tal-hemorrhagic-diathesis
#1
L Rzaguliyeva, G Afandiyeva, N Malikqasımova
The aim is to study the coagulogram indices in the III trimester of pregnancy in women with hemophilia and von Willebrand disease. Twenty-seven pregnant women with hereditary coagulopathies of mild and moderate form (mean age 27.9±3.3 years) in the third trimester of pregnancy were examined. Of the examined 12 women - carriers of hemophilia A and B, 15 - with Willebrand disease (BV). Clinico-laboratory examination, clinical and biochemical blood tests were carried out. Coagulologic examination was performed on 17 parameters...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28819614/acute-compartment-syndrome-after-an-olecranon-fracture-in-a-patient-with-mild-hemophilia-b
#2
John M Reynolds, Christy Christophersen, Mary K Mulcahey
INTRODUCTION: Compartment syndrome is a serious condition characterized by compartmental pressures within 20 mmHg of diastolic blood pressure, or clinical signs of pain, paresthesia, pallor, and lack of pulses. Often a surgical intervention is necessary. Increased surveillance for compartment syndrome is important when a patient with a bleeding disorder sustains a traumatic injury. CASE REPORT: We present a case of forearm compartment syndrome in a patient with mild hemophilia B who sustained an olecranon fracture...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28815418/availability-of-angiography-and-therapeutic-embolization-for-the-treatment-of-acute-bleeding-in-patients-with-hemophilia
#3
Mi Jin Kim, Ji Young Oh, Young Shil Park
Clotting factor replacement therapy alone is often inadequate for acute bleeding in hemophilia patients, and surgery for such patients poses significant clinical challenges. Arterial angiographic intervention is used to control bleeding in local blood vessels. In the present study, we examined the clinical course and prognosis of hemophilia patients with bleeding who had undergone angiography, and evaluated the validity of diagnostic angiography and therapeutic embolization in these patients. Angiography was performed in five hemophilia patients, who experienced bleeding that was difficult to control even after treatment with clotting factor replacement or bypassing agent therapy...
August 16, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28804837/detection-and-measurement-of-factor-inhibitors
#4
Geoffrey Kershaw
Specific coagulation factor inhibitors, most notably to coagulation factor VIII, can develop in patients with hemophilia after exposure to replacement factor or as an acquired (autoimmune) event. Such inhibitors can be detected by a combination of prolonged coagulation screening tests, such as the activated partial thromboplastin time, plus a non-correcting mixing test. Non-correction may only be evident, or else may be extenuated, with incubation at 37 °C. The Bethesda assay for quantitation of inhibitor strength is based on a combination of mixing tests followed by specific factor assays...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804835/chromogenic-factor-viii-assays-for-improved-diagnosis-of-hemophilia-a
#5
Susan Rodgers, Elizabeth Duncan
Hemophilia A is an inherited bleeding disorder caused by a reduced level of factor VIII coagulant activity (FVIII:C) in blood. Bleeding episodes may occur spontaneously in the severe form of hemophilia or after trauma in the milder forms. It is important that patients are diagnosed correctly, which includes placing them into the correct severity category of the disorder so that appropriate treatment can be given. Diagnosis is made by determination of the amount of FVIII:C in the blood, usually using a one-stage factor VIII:C assay...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28802375/post-tonsillectomy-hemorrhagic-outcomes-in-children-with-bleeding-disorders-at-a-single-institution
#6
Priyesh N Patel, Alexandra M Arambula, Allison P Wheeler, Edward B Penn
OBJECTIVE: To report on the post-tonsillectomy bleeding outcomes and factors associated with hemorrhage among children with pre- or post-operatively diagnosed bleeding disorders treated with an institutional protocol. METHODS: Retrospective cohort study of patients with hematologic disorders who underwent tonsillectomy between 2003 and 2016 and were treated with perioperative desmopressin or factor replacement and/or aminocaproic acid. Postoperative outcomes were compared to controls matched for age, sex, and indication for surgery...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28799250/extracellular-vesicles-nature-s-nanoparticles-for-improving-gene-transfer-with-adeno-associated-virus-vectors
#7
REVIEW
Bence György, Casey A Maguire
Gene therapy, the ability to treat a disease at the level of nucleic acid, has journeyed from science fiction, to hard lessons learned from early clinical trials, to improved technologies with efficacy in patients for several diseases. Adeno-associated virus (AAV) vectors are currently a leader for direct in vivo gene therapy. To date, AAV is safe in patients, with clinical benefit in trials to treat blindness, hemophilia, and a lipid disorder, with many more trials underway. Despite this remarkable progress, barriers exist for AAV vectors to be effective gene transfer vehicles in all organ/cell targets, as well as patient subpopulations...
August 11, 2017: Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology
https://www.readbyqxmd.com/read/28799202/immune-tolerance-induced-by%C3%A2-platelet-targeted-factor-viii-gene-therapy-in-hemophilia-a-mice-is-cd4%C3%A2-t-cell-mediated
#8
Y Chen, X Luo, J A Schroeder, J Chen, C K Baumgartner, J Hu, Q Shi
BACKGROUND: Immune responses are a major concern in gene therapy. Our previous studies demonstrated that platelet-targeted FVIII (2bF8) gene therapy together with in vivo drug-selection of transduced cells can rescue the bleeding diathesis and induce immune tolerance in FVIII(null) mice. OBJECTIVE: To investigate whether non-selectable 2bF8 lentiviral vector (LV) for the induction of platelet-FVIII expression is sufficient to induce immune tolerance and how immune tolerance is induced after 2bF8LV gene therapy...
August 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28795528/limit-of-detection-and-threshold-for-positivity-of-the-centers-for-disease-control-and-prevention-assay-for-factor-viii-inhibitors
#9
Connie H Miller, Brian Boylan, Amy D Shapiro, Steven R Lentz, Brian M Wicklund
BACKGROUND: The Bethesda assay (BA) for measurement of factor VIII (FVIII) inhibitors called for quantitation of positive inhibitors using dilutions producing 25-75% residual activity (RA), corresponding to 0.4-2.0 Bethesda units, recommending use of "more sensitive methods" for samples with RA closer to 100%. The Nijmegen modification (NBA) changed the reagents used but not these calculations. Some specimens negative by NBA have been shown to have FVIII antibodies detectable by sensitive immunologic methods...
August 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28795008/sports-participation-recommendations-for-patients-with-bleeding-disorders
#10
REVIEW
Cailly Howell, Katherine Scott, Dilip R Patel
There are several sets of guidelines recommending sports participation for patients with bleeding disorders. Though there is a perceived risk of injury and the associated bleeding complications, several studies have been done in this patient population and have found no increased risk. In addition, there are many other benefits to participation including improvement in physical fitness status, better health outcomes, improvement in quality of life, and the development of increased flexibility, gait coordination, and muscular strength, which may actually reduce the risk of subsequent injury...
July 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28793786/hemophilia-gene-therapy-ready-for-prime-time
#11
Thierry VandenDriessche, Marinee K L Chuah
Hemophilia A and B are congenital X-linked bleeding disorders caused by mutations in the genes encoding for the blood clotting factor VIII (FVIII) or factor IX (FIX), respectively. Since the beginning of gene therapy, hemophilia has been considered an attractive disease target that served as a trailblazer for the field at large. Different technologies have been explored to efficiently and safely deliver the therapeutic FVIII and FIX genes into the patients' cells. Currently, the most promising vectors for hemophilia gene therapy are adeno-associated viral vectors (AAV) and lentiviral vectors...
August 10, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28789965/application-of-polyploid-adeno-associated-virus-vectors-for-transduction-enhancement-and-neutralizing-antibody-evasion
#12
Zheng Chai, Junjiang Sun, Kelly Michelle Rigsbee, Mei Wang, R Jude Samulski, Chengwen Li
Adeno-associated virus (AAV) vectors have been used successfully in clinical trials for patients with hemophilia or blindness, but pre-existing neutralizing antibodies (Nab) are common in the general population and exclude many patients from clinical trials. Exploration of effective strategies to enhance AAV transduction and escape from Nab activity is still imperative. Previous studies have shown the compatibility of capsids from AAV serotypes and homology of recognition sites of AAV Nab located on different capsid subunits from one virion...
August 5, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28780772/prophylaxis-use-among-males-with-haemophilia-b-in-the-united-states
#13
M Ullman, Q C Zhang, S D Grosse, M Recht, J M Soucie
INTRODUCTION: Prophylaxis is considered the optimal treatment for persons with moderate to severe haemophilia (factor activity between 1-5% of normal and <1% of normal respectively) in countries where safe factor concentrates are available and economically feasible. Historically, prophylactic treatment has not been well studied in the haemophilia B (HB) population due to difficulties in obtaining a sufficiently large sample. AIM: This study examines the prevalence of prophylaxis use among a robust sample of persons with HB in the United States and its association with specific demographic and clinical characteristics...
August 6, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28780767/ageing-successfully-with-haemophilia-a-multidisciplinary-programme
#14
E Boccalandro, M E Mancuso, S Riva, D M Pisaniello, F Ronchetti, E Santagostino, F Peyvandi, L P Solimeno, P M Mannucci, G Pasta
INTRODUCTION: Persons with haemophilia (PWH) born before the middle 1970s have spent a substantial part of their lives without the benefits of replacement therapy, that became available on a relative large scale only during the 1970s. As a consequence, this group of PWH, although still relatively young, suffers from musculoskeletal and functional problems that are typical of old people. METHODS: We report herewith the short-term results of a project based upon a multidisciplinary training programme led by a physiotherapist and an occupational therapist, that was implemented over a period of 12 months in 40 patients with severe or moderate hemophilia A or B born before the middle 1970s and regularly followed-up at a comprehensive haemophilia treatment centre in Italy...
August 6, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28780303/computational-analysis-of-asp519-and-glu665-mutations-of-coagulation-factor-fviiia-implications-for-enhanced-binding-affinity-of-a2-domain
#15
Shenna Shearin, Divi Venkateswarlu
The A2-domain of blood coagulation factor VIIIa is non-covalently bound to the A1 and A3 domains via weak intermolecular interactions. Functional instability due to rapid dissociation of A2-domain from the active FVIII in blood presents a major hurdle for the therapeutic applications of FVIIIa to treat Hemophilia-A. To identify the ideal hot-spot residues at the interface of A2 and A1/A3 domains that could enhance the structural stability of FVIIIa, we performed a comprehensive computational mutagenesis study of two A2-domain residues, Asp519 and Glu665, that interface the A1 and A3-domains...
July 29, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28780274/microfluidic-transduction-harnesses-mass-transport-principles-to-enhance-gene-transfer-efficiency
#16
Reginald Tran, David R Myers, Gabriela Denning, Jordan E Shields, Allison M Lytle, Hommood Alrowais, Yongzhi Qiu, Yumiko Sakurai, William C Li, Oliver Brand, Joseph M Le Doux, H Trent Spencer, Christopher B Doering, Wilbur A Lam
Ex vivo gene therapy using lentiviral vectors (LVs) is a proven approach to treat and potentially cure many hematologic disorders and malignancies but remains stymied by cumbersome, cost-prohibitive, and scale-limited production processes that cannot meet the demands of current clinical protocols for widespread clinical utilization. However, limitations in LV manufacture coupled with inefficient transduction protocols requiring significant excess amounts of vector currently limit widespread implementation...
July 8, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28772338/qualification-of-a-select-one-stage-activated-partial-thromboplastin-time-based-clotting-assay-and-two-chromogenic-assays-for-the-post-administration-monitoring-of-nonacog-beta-pegol
#17
Stefan Tiefenbacher, Rahul Bohra, Jean Amiral, Annette Bowyer, Steve Kitchen, Anne Lochu, Steffen Rosén, Mirella Ezban
BACKGROUND: Nonacog beta pegol (N9-GP) is an extended half-life, glycoPEGylated recombinant human factor IX (FIX) under development for the prophylaxis and treatment of bleeding episodes in hemophilia B patients. Considerable reagent-dependent variability has been observed when one-stage clotting assays are used to measure the recovery of recombinant FIX products, including N9-GP. OBJECTIVE: To qualify select one-stage clotting and chromogenic FIX activity assays for measuring N9-GP recovery...
August 3, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28769599/identification-of-people-with-acquired-hemophilia-in-a-large-electronic-health-record-database
#18
Michael Wang, Anissa Cyhaniuk, David L Cooper, Neeraj N Iyer
BACKGROUND: Electronic health records (EHRs) can provide insights into diagnoses, treatment patterns, and clinical outcomes. Acquired hemophilia (AH) is an ultrarare bleeding disorder characterized by factor VIII inhibiting autoantibodies. AIM: To identify patients with AH using an EHR database. METHODS: Records were accessed from a large EHR database (Humedica) between January 1, 2007 and July 31, 2013. Broad selection criteria were applied using the International Classification of Diseases, Ninth Revision, clinical modification (ICD-9-CM) code for intrinsic circulating anticoagulants (286...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/28768627/genetic-risk-stratification-to-reduce-inhibitor-development-in-the-early-treatment-of-hemophilia-a-a-sippet-analysis
#19
Frits R Rosendaal, Roberta Palla, Isabella Garagiola, Pier M Mannucci, Flora Peyvandi
A recent randomized trial, the Survey of Inhibitors in Plasma-Product Exposed Toddlers (SIPPET), showed a higher risk of inhibitor development with recombinant (rFVIII) than plasma-derived concentrates (pdFVIII). We investigated whether risk stratification by F8 mutation identifies patients who do not suffer this deleterious effect of rFVIII. Among 235 randomized patients with severe hemophilia A, previously untreated with FVIII concentrate, 197 with null mutations were classified as high risk, and 38 with non-null mutations as low risk...
August 2, 2017: Blood
https://www.readbyqxmd.com/read/28767473/acquired-hemophilia-a-after-hepatic-yttrium-90-radioembolization-a-case-report
#20
Susanna Tribuzi, Alessia Naccarato, Lorella Pelagalli, Marco Covotta, Giulia Torregiani, Claudia Claroni, Ester Forastiere
Acquired hemophilia is a rare but potentially life-threatening bleeding disorder caused by the development of autoantibodies (inhibitors) directed against plasma coagulation factors, most frequently factor VIII. We report a case of a 65-year-old man with hepatocellular carcinoma who bled massively after a hepatic Yttrium-90 radioembolization procedure (Selective Internal Radiation Therapy with Yttrium-90 Resin Microspheres [SIRTex]). An acquired deficiency of factor VIII was diagnosed and successfully treated with recombinant activated factor VII and immunosuppression...
August 1, 2017: A & A Case Reports
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