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https://www.readbyqxmd.com/read/29667073/spirituality-experiences-in-hemophilia-patients-a-phenomenological-study
#1
Masoume Rambod, Farkhondeh Sharif, Zahra Molazem, Kate Khair
Spirituality plays an important role in coping with chronic diseases. However, the meaning of spirituality is not known in hemophilia, as a chronic disease. This study aimed to explore the essence of spirituality in hemophilia patients. This qualitative study with a hermeneutic phenomenological approach was conducted on twelve Muslim adult hemophilia patients. The participants were selected using purposeful sampling. The data were gathered through interview. Then, the data were analyzed using thematic analysis and van Manen's methodological framework...
April 17, 2018: Journal of Religion and Health
https://www.readbyqxmd.com/read/29665242/comparative-analysis-of-marketed-factor-viii-products-recombinant-products-are-not-alike-vis-a-vis-soluble-protein-aggregates-and-subvisible-particles
#2
J Anzengruber, C Lubich, T Prenninger, A Gringeri, F Scheiflinger, B M Reipert, M Malisauskas
BACKGROUND: Recombinant protein technologies have facilitated the development of novel FVIII therapeutics with improved production efficiency, potency, half-live, and low risk of viral transmission. The increasing number of recombinant Factor VIII (rFVIII) products and information on their efficacy, safety, and cost allow patients and healthcare professionals to adjust treatment to individual needs. Nonetheless, 20-32% of previously untreated patients with severe hemophilia A develop inhibitory antibodies to rFVIII following treatment...
April 17, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29662861/global-hemostatic-assay-of-different-target-procoagulant-activities-of-factor-viii-and-factor-ix
#3
Ki-Young Yoo, Soo-Young Jung, Sung-Ho Hwang, Su-Min Lee, Jong-Ho Park, Hyun-Ja Nam
Background: Korean National Health Insurance reimburses factor VIII (FVIII) and factor IX (FIX) clotting factor concentrate (CFC) infusions to discrepant activity levels, allowing elevation of FVIII activity to 60 IU/dL and FIX to 40 IU/dL. We aimed to assess hemostatic response to these target levels using global hemostatic assays. Methods: We enrolled 34 normal healthy men, 34 patients with hemophilia A, and 36 with hemophilia B, with residual factor activity of 3 IU/dL or less and without inhibitors...
March 2018: Blood Research
https://www.readbyqxmd.com/read/29655485/-cost-of-clotting-factors-in-hospitalization
#4
P Randuineau, N Stieltjes, V Perut, P Paubel, I Lopez
OBJECTIVES: Hemophilia is a rare genetic disease, characterized by uncontrolled bleeding. Injections of clotting factor are the principal are the principal treatment. This drug is very expensive. The objectives of this study are to determine the cost of clotting factor for in patients and the factor impacting this cost. METHODS: A retrospective study was carried on hemophiliac in patients between 1 January 2014 and 31 December 2015 in Cochin hospital and having received at least an injection of clotting factor during their hospitalization...
April 11, 2018: Annales Pharmaceutiques Françaises
https://www.readbyqxmd.com/read/29652675/an-intronic-mutation-c-6430-3c-g-in-the-f8-gene-causes-splicing-efficiency-and-premature-termination-in-hemophilia-a
#5
Zunjing Xia, Jie Lin, Lingping Lu, Chol Kim, Ping Yu, Ming Qi
: Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild according to factor clotting activity. An overwhelming majority of missense and nonsense mutations occur in exons of F8 gene, whereas mutations in introns can also be pathogenic. This study aimed to investigate the effect of an intronic mutation, c.6430-3C>G (IVS22-3C>G), on pre-mRNA splicing of the F8 gene. We applied DNA and cDNA sequencing in a Chinese boy with hemophilia A to search if any pathogenic mutation in the F8 gene...
April 12, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29649469/phosphatidylserine-is-not-just-a-cleanup-crew-but-also-a-well-meaning-teacher
#6
Fiona Y Glassman, Jennifer L Schneider, Radha Ramakrishnan, Robert K Dingman, Murali Ramanathan, Richard B Bankert, Sathy V Balu-Iyer
Phosphatidylserine (PS) exposure during apoptosis leads to silent clearance of cells without adverse immune reactions to self-proteins. Given the biological functions of PS in cellular cleanup and global immunosuppression, we hypothesized that administration of PS-protein complexes would reduce immunogenicity. Here, we report that exposing Pompe disease mice to acid alpha glucosidase (rhGAA) with PS or immunosuppressant dexamethasone (Dex) resulted in lower anti-rhGAA-antibodies than in animals receiving rhGAA alone...
April 9, 2018: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29645406/modified-clot-waveform-analysis-to-measure-plasma-coagulation-potential-in-the-presence-of-the-anti-factor-ixa-factor-x-bispecific-antibody-emicizumab
#7
Keiji Nogami, Tomoko Matsumoto, Yuka Tabuchi, Tetsuhiro Soeda, Nobuo Arai, Takehisa Kitazawa, Midori Shima
BACKGROUND: Emicizumab is an anti-factor (F)IXa/FX bispecific antibody that mimics FVIIIa cofactor function. Emicizumab does not require activation by thrombin and its effect on shortening activated partial prothrombin time (aPTT) is much greater relative to FVIII. The aPTT has limited utility, therefore, in hemophilia A patients (HA-pts) treated with emicizumab. AIM: To evaluate the global coagulation potential of emicizumab. METHODS: Clot waveform analysis (CWA) with prothrombin time (PT)/aPTT-mixed reagents was used to define hemostatic monitoring protocols in HA-pts...
April 12, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29628601/i-gel%C3%A2-may-be-the-device-of-choice-for-controlled-ventilation-in-patients-with-hemophilia-undergoing-abdominal-laparoscopic-surgery
#8
Sreyashi Sen, Koel Mitra, Shanta Ganguli, Sudakshina Mukherji
Haemophilia is an inherited bleeding disorder with variable deficiency of Factor VIII in the plasma and is characterised by bleeding into joints, muscles and tissues either spontaneously or in response to trivial trauma. Perioperative care requires multidisciplinary involvement. Perioperative management involves the risk of excessive bleeding from surgical site as well as spontaneous bleeding into the brain in response to surgical stress in patients with previous history of intracerebral haemorrhage. Airway management of such patients during anaesthetic intervention is a challenge and entails the risk of life threatening haemorrhage into the airway...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29625575/targeted-genome-engineering-in-human-induced-pluripotent-stem-cells-from-patients-with-hemophilia-b-using-the-crispr-cas9-system
#9
Cuicui Lyu, Jun Shen, Rui Wang, Haihui Gu, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
BACKGROUND: Replacement therapy for hemophilia remains a lifelong treatment. Only gene therapy can cure hemophilia at a fundamental level. The clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9 (CRISPR-Cas9) system is a versatile and convenient genome editing tool which can be applied to gene therapy for hemophilia. METHODS: A patient's induced pluripotent stem cells (iPSCs) were generated from their peripheral blood mononuclear cells (PBMNCs) using episomal vectors...
April 6, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29624465/practical-implications-of-factor-ix-gene-transfer-for-individuals-with-hemophilia-b-a-clinical-perspective
#10
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/29618923/patient-preferences-in-the-treatment-of-hemophilia-a-impact-of-storage-conditions-on-product-choice
#11
Bernd Tischer, Renato Marino, Mariasanta Napolitano
Objectives: To gain insights into the usage of factor VIII (FVIII) products by patients diagnosed with moderate/severe hemophilia A, and to assess the impact and perceived importance of product storage. Methods: In this study, 200 patients diagnosed with moderate or severe hemophilia A across seven countries participated. Data were collected via a 30-minute, face-to-face interview in six countries and via a web-based survey in the seventh country. The questionnaire evaluated the effect of six features associated with FVIII products on the choice of the product; the structure and flow of data collection was designed to eliminate potential bias...
2018: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29618686/-giant-hemophilic-pseudotumors-in-brothers-with-non-severe-hemophilia-b
#12
Ikuko Matsumura, Kunio Yanagisawa, Yoshiyuki Ogawa, Hiroaki Shimizu, Takuma Ishizaki, Takeki Mitsui, Hideki Uchiumi, Yuri Uchiyama, Naomichi Matsumuto, Hiroshi Handa
Hemophilic pseudotumors can occur in patients with hemophilia because of recurrent bleeding and poor hemostasis. A man in his 30s with hemophilia B and human immunodeficiency virus/hepatitis C virus co-infection complicated by liver cirrhosis presented with a large pseudotumor in the left iliopsoas muscle. However, resting to stop bleeding was difficult with his daily work. Osteolytic changes in the left ilium progressed over 8 years. A large osteolytic pseudotumor in the pelvis was also incidentally identified in his younger brother during his 30s...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29610166/b-6-and-bleeding-a-case-report-of-a-novel-vitamin-toxicity
#13
Alexandra J Borst, Dmitry Tchapyjnikov
Pyridox(am)ine-5-phosphate oxidase deficiency is an inborn error of vitamin B6 metabolism that is characterized by neonatal seizures, requiring lifelong therapy with pyridoxal-5-phosphate. We present the first case of a patient with pyridox(am)ine-5-phosphate oxidase deficiency and mild hemophilia A, whose bleeding symptoms were exacerbated by the vitamin B6 therapy essential for his epileptic disorder. This report expands the spectrum of known vitamin B6 toxicity and demonstrates a need for vigilance in monitoring for bleeding symptoms in patients requiring pyridoxine or pyridoxal-5-phosphate supplementation...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29608457/can-the-plasmaderived-factor-viii-still-play-a-role-in-the-treatment-of-acquired-hemophilia-a-at-the-time-of-new-drugs
#14
Samantha Pasca, Vincenzo De Angelis, Marta Milan, Ezio Zanon
: Bypassing agents are the first-line therapy in the treatment of acquired hemophilia A (AHA), but not the only one. Other options as recombinant porcine factor VIII or plasmaderived concentrates (pdFVIII) are available to clinicians. Aim of this study was to evaluate whether the pdFVIII can still play a role in the treatment of AHA, and which patients could benefit from this therapy. All patients with AHA, presenting severe cardiovascular comorbidities, and treated with pdFVIII with or without von Willebrand factor (vWF), referred to two different hospitals, were initially considered...
March 31, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29608237/designer-nuclease-mediated-gene-correction-via-homology-directed-repair-in-an-in-vitro-model-of-canine-hemophilia-b
#15
Thorsten Bergmann, Eric Ehrke-Schulz, Jian Gao, Maren Schiwon, Verena Schildgen, Stephan David, Oliver Schildgen, Anja Ehrhardt
BACKGROUND: Gene correction at specific target loci provides a powerful strategy to overcome genetic diseases. Here we aimed at using an in vitro model for canine hemophilia B containing a single point mutation in the catalytic domain of the canine coagulation factor IX (cFIX) gene. To correct the defective gene via homology-directed repair (HDR), we designed transcription-activator like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeats including Cas9 (CRISPR/Cas9) for introduction of double strand breaks at the mutation site...
April 2, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29606934/vedolizumab-treatment-for-ulcerative-colitis-in-an-elderly-multimorbid-patient-with-hemophilia-a
#16
Holger Schäffler, Astrid Huth, Georg Lamprecht, Olaf Anders
The treatment of inflammatory bowel diseases (IBD) can be challenging, especially in elderly multimorbid patients. Since incidence and prevalence rates of IBD are rising steadily, treatment of older patients with relevant and also rare comorbidities will be of increasing relevancy for caregivers. Here we report on a 74-year-old multimorbid patient with severe ulcerative colitis (UC) and hemophilia A. Because of the chronic active disease, therapy with a tumor necrosis factor-α inhibitor was started. He suffered from a severe infectious complication (pneumonia) under therapy with infliximab...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29599079/efficient-in-vivo-liver-directed-gene-editing-using-crispr-cas9
#17
Kshitiz Singh, Hanneke Evens, Nisha Nair, Melvin Y Rincón, Shilpita Sarcar, Ermira Samara-Kuko, Marinee K Chuah, Thierry VandenDriessche
In vivo tissue-specific genome editing at the desired loci is still a challenge. Here, we report that AAV9-delivery of truncated guide RNAs (gRNAs) and Cas9 under the control of a computationally designed hepatocyte-specific promoter lead to liver-specific and sequence-specific targeting in the mouse factor IX (F9) gene. The efficiency of in vivo targeting was assessed by T7E1 assays, site-specific Sanger sequencing, and deep sequencing of on-target and putative off-target sites. Though AAV9 transduction was apparent in multiple tissues and organs, Cas9 expression was restricted mainly to the liver, with only minimal or no expression in other non-hepatic tissues...
March 6, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29594923/perioperative-safety-and-hemostatic-efficacy-of-advate-%C3%A2-in-patients-with-hemophilia-a-in-a-postmarketing-surveillance-in-japan
#18
Keiji Nogami, Hideyuki Takedani, Midori Shima, Akira Yoshioka, Tadashi Matsushita, Junki Takamatsu, Masashi Taki, Katsuyuki Fukutake, Haruhiko Uchikawa, Hiroshi Takagi, Morio Arai, Werner Engl, Akira Shirahata
Rurioctocog alfa (recombinant factor VIII: Advate® ) is available for the control of bleeding among patients with hemophilia A in Japan. To evaluate the perioperative safety and hemostatic efficacy of Advate® , a postmarketing surveillance was conducted in Japanese patients undergoing surgery in a real-world setting. A total of 74 surgical procedures performed in 58 subjects aged 0-75 years, including three females, were studied. A hemostatic efficacy rating of "excellent" or "good" was reported in 73/74 surgical procedures (98...
March 28, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29589344/successful-surgical-removal-of-a-massive-iliopsoas-pseudotumor-in-a-boy-with-mild-hemophilia-a
#19
Alexej Bobrowski, Annamaria Cseh, Alexander Pschibul, David Schorling, Olaf Moske-Eick, Jochen Raedecke, Barbara Zieger
No abstract text is available yet for this article.
March 27, 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29588277/tolerogenic-properties-of-fc-portion-of-igg-and-its-relevance-to-the-treatment-and-management-of-hemophilia
#20
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
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