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Hemophilia A

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https://www.readbyqxmd.com/read/28437834/elucidation-of-factor-viii-activity-pharmacokinetics-a-pooled-population-analysis-in-hemophilia-a-patients-treated-with-moroctocog-alfa
#1
João A Abrantes, Elisabet I Nielsen, Joan Korth-Bradley, Lutz Harnisch, Siv Jönsson
This study investigated the disposition of coagulation factor VIII activity in 754 moderate to severe hemophilia A patients following the administration of moroctocog alfa, a B-domain deleted recombinant factor VIII. Data analyzed included patients aged 1 day to 73 years enrolled in 13 studies conducted over a period of 20 years in 25 countries. A two-compartment population pharmacokinetic model with a baseline model described the pooled data well. Body size, age, inhibitors, race and analytical assay were identified as significant predictors of factor VIII disposition...
April 24, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28436106/therapeutic-plasma-exchange-as-part-of-multimodal-treatment-of-acquired-hemophilia-in-a-patient-with-concurrent-acute-intracerebral-bleed-and-pulmonary-embolism
#2
Geoffrey D Wool, David Chapel, Angela Treml, Jonathan L Miller
BACKGROUND: Autoantibodies against Factor VIII (FVIII) define the rare but life-threatening bleeding disorder acquired hemophilia A (AHA). Correction of FVIII deficiency and eradication of the factor inhibitor are the ultimate therapeutic goals in this disorder. Bypassing agents such as recombinant factor VIIa (rFVIIa) or FVIII inhibitor bypassing agent are often used to control coagulopathy before the inhibitor is eradicated. Bypassing agents carry a risk of thrombosis, however. CASE REPORT: We report a patient with newly diagnosed AHA and thalamic bleed who additionally had active atrial fibrillation and developed a segmental pulmonary embolism, limiting tolerable rFVIIa dosage...
April 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28432221/biological-considerations-of-plasma-derived-and-recombinant-factor-viii-immunogenicity
#3
Jesse Lai, Christine Hough, Julie Tarrant, David Lillicrap
In hemophilia A, the most severe complication of factor VIII (FVIII) replacement therapy involves the formation of FVIII neutralizing antibodies, also known as inhibitors, in 25-30% of patients. This adverse event is associated with a significant increase in morbidity and economic burden, thus highlighting the need to identify methods to limit FVIII immunogenicity. Inhibitor development is regulated by a complex balance of genetic factors, such as FVIII genotype, and environmental variables, such as coexistent inflammation...
April 21, 2017: Blood
https://www.readbyqxmd.com/read/28419637/self-reported-prevalence-description-and-management-of-pain-in-adults-with-haemophilia-methods-demographics-and-results-from-the-pain-functional-impairment-and-quality-of-life-p-fiq-study
#4
M Witkop, A Neff, T W Buckner, M Wang, K Batt, C M Kessler, D Quon, L Boggio, M Recht, K Baumann, R Z Gut, D L Cooper, C L Kempton
INTRODUCTION: Haemophilia is characterized by frequent haemarthrosis, leading to acute/chronic joint pain. AIM: To assess self-reported prevalence, description and management of pain in adult males with mild-to-severe haemophilia and history of joint pain/bleeding. METHODS: Participants completed a pain survey and five patient-reported outcome instruments assessing pain, functional impairment and health-related quality of life (HRQoL). RESULTS: Of 381 participants enrolled, median age was 34 years; 77% had haemophilia A, 71% had severe disease and 65% were overweight/obese...
April 16, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28411016/gene-therapy-for-hemophilia
#5
REVIEW
Arthur W Nienhuis, Amit C Nathwani, Andrew M Davidoff
The X-linked bleeding disorder hemophilia causes frequent and exaggerated bleeding that can be life-threatening if untreated. Conventional therapy requires frequent intravenous infusions of the missing coagulation protein (factor VIII [FVIII] for hemophilia A and factor IX [FIX] for hemophilia B). However, a lasting cure through gene therapy has long been sought. After a series of successes in small and large animal models, this goal has finally been achieved in humans by in vivo gene transfer to the liver using adeno-associated viral (AAV) vectors...
April 11, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28409144/hemarthrosis-subtalar-a-rare-diagnosis
#6
Dov Lagus Rosemberg, Miguel Akkari, Susana Dos Reis Braga, Mario Lenza, Fabio Ricardo Picchi Martins, Claudio Santili
Type B hemophilia usually affects patients with a family history of this disease and has a typical clinical picture. However, in the present case it appeared in a patient outside the typical age with no family history of hematologic malignancies and with an unusual clinical picture.
March 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28406575/monitoring-once-weekly-recombinant-factor-ix-prophylaxis-in-hemophilia-b-with-thrombin-generation-assay-and-factor-ix-activity
#7
V Nummi, A Jouppila, R Lassila
INTRODUCTION: Prophylaxis is the recommended treatment mode for severe hemophilia B. However, no single treatment regimen fits for all patients. Once-weekly prophylaxis with high-dose recombinant factor IX (rFIX) is efficacious, nevertheless, laboratory outcomes following 72 h after administration are lacking. METHODS: In a prospective open-label noncomparative study, 10 severe/moderate (FIX ≤2 IU/dL) adult patients received rFIX dose (60-100 IU/kg) after >72 h washout on two occasions, separated by 7 days...
April 13, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28401797/the-state-of-skewed-x-chromosome-inactivation-is-retained-in-the-induced-pluripotent-stem-cells-from-a-female-with-hemophilia-b
#8
Cuicui Lyu, Jun Shen, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Donglei Zhang, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
Skewed X chromosome inactivation (XCI) is a rare reason for hemophilia B in females. It is indefinite whether X chromosome reactivation (XCR) would occur when cells of hemophilia B patients with skewed XCI were reprogrammed into induced pluripotent stem cells (iPSCs). In this study, we investigated a female hemophilia B patient with a known F9 gene mutation: c.676C>T, p.Arg226Trp. We demonstrated that skewed XCI was the pathogenesis of the patient, and we successfully generated numerous iPSCs colonies of the patient from PBMNCs, which was the first time for generating hemophilia-specific iPSCs from PBMNCs...
April 12, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28401110/the-first-case-report-of-a-patient-with-coexisting-hemophilia-b-and-down-syndrome
#9
Pulkit Rastogi, Narender Kumar, Jasmina Ahluwalia, Reena Das, Inusha Panigrahi
No abstract text is available yet for this article.
March 2017: Blood Research
https://www.readbyqxmd.com/read/28395496/-causes-and-management-of-pediatric-spontaneous-tonsillar-haemorrhage
#10
Z B Wu, H G Pan, Y S Teng, D L Zhang, X Y Ma, S H Han, L Li
Objective: To analyze the causes and management plan of pediatric spontaneous tonsillar haemorrhage(STH). Methods: According to the criteria of STH difined by Griffies, patients with STH from December 2013 to January 2016 were included in this retrospective study. Results: A total of 11 patients were reviewed. The etiological diagnosis included 3 pediatric Epstein-Barr virus associated infectious mononucleosis(EBV-IM), 3 suspected pediatric EBV-IM to 3 acute suppurative tonsillitis, 1 acute viral tonsillitis and 1 hemophilia A...
March 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28393618/regulatory-b-cells-are-functionally-impaired-in-patients-having-hemophilia-a-with-inhibitors
#11
Mohamed-Rachid Boulassel, Maryam Al-Ghonimi, Badriya Al-Balushi, Amal Al-Naamani, Zahra Al-Qarni, Yasser Wali, Mohamed Elshinawy, Maryam Al-Shezawi, Hamad Khan, Hanan Nazir, Doaa Khater, Anil Pathare, Salam Al-Kindi
Development of inhibitors remains a major clinical complication in patients with hemophilia A receiving replacement therapy with factor VIII (FVIII). Understanding the immune mechanisms involved in the development of inhibitors can provide valuable information about pathways to human tolerance. Recent evidence indicates that B regulatory (Breg) cells play a pivotal role in controlling the production of antibodies (Abs) while promoting follicular T helper (Tfh) cells and monocytes, expressing the low-density lipoprotein receptor-related protein (LRP/CD91), which is involved in FVIII intake from the circulation...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28392945/pitfalls-in-interventional-pain-medicine-hyponatremia-after-ddavp-for-a-patient-with-von-willebrand-disease-undergoing-an-epidural-steroid-injection
#12
Talal W Khan, Abdulraheem Yacoub
Desmopressin (DDAVP), a synthetic analog of vasopressin, has been used in patients with von Willebrand disease (VWD), mild hemophilia A, and platelet dysfunction to reduce the risk of bleeding associated with surgical and interventional procedures. We report the case of a patient with VWD presenting with a bulging disc and radicular pain that underwent transforaminal epidural steroid injections. Her course was complicated with the interval development of headaches and dizziness symptomatic of moderate hyponatremia, likely due to excessive fluid intake...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28392680/validation-of-the-veritas-pro-treatment-adherence-scale-in-a-spanish-sample-population-with-hemophilia
#13
Rubén Cuesta-Barriuso, Ana Torres-Ortuño, Pilar Galindo-Piñana, Joaquín Nieto-Munuera, Natalie Duncan, José Antonio López-Pina
PURPOSE: We aimed to conduct a validation in Spanish of the Validated Hemophilia Regimen Treatment Adherence Scale - Prophylaxis (VERITAS-Pro) questionnaire for use in patients with hemophilia under prophylactic treatment. PATIENTS AND METHODS: The VERITAS-Pro scale was adapted through a process of back translation from English to Spanish. A bilingual native Spanish translator translated the scale from English to Spanish. Subsequently, a bilingual native English translator translated the scale from Spanish to English...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#14
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28388906/predictors-of-quality-of-life-among-adolescents-and-young-adults-with-a-bleeding-disorder
#15
John M McLaughlin, James E Munn, Terry L Anderson, Angela Lambing, Bartholomew Tortella, Michelle L Witkop
BACKGROUND: Health-related quality of life (HRQoL) in adolescents and young adults with bleeding disorders is under-researched. We aimed to describe factors related to HRQoL in adolescents and young adults with hemophilia A or B or von Willebrand disease. METHODS: A convenience sample of volunteers aged 13 to 25 years with hemophilia or von Willebrand disease completed a cross-sectional survey that assessed Physical (PCS) and Mental (MCS) Component Summary scores on the SF-36 questionnaire...
April 7, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28388863/perioperative-coagulation-management-of-a-hemophilia-a-patient-during-cardiac-surgery
#16
Patrick Odonkor, Archana Srinivas, Erik Strauss, Brittney Williams, Michael Mazzeffi, Kenichi A Tanaka
Perioperative management of cardiovascular surgical procedures requiring cardiopulmonary bypass (CPB) in patients with hemophilia A poses a clinical challenge in coagulation management. Use of CPB requires the administration of an anticoagulant, usually unfractionated heparin, and also causes dilutional coagulopathy, platelet dysfunction or platelet consumption coagulopathy. Hypothermia and activation of the inflammatory cascade also affect coagulation. The effects of CPB on circulating levels of factor VIII have not been clearly defined...
April 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28388605/refining-strategies-to-translate-genome-editing-to-the-clinic
#17
REVIEW
Tatjana I Cornu, Claudio Mussolino, Toni Cathomen
Recent progress in developing programmable nucleases, such as zinc-finger nucleases, transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeat (CRISPR)-Cas nucleases, have paved the way for gene editing to enter clinical practice. This translation is a result of combining high nuclease activity with high specificity and successfully applying this technology in various preclinical disease models, including infectious disease, primary immunodeficiencies, hemoglobinopathies, hemophilia and muscular dystrophy...
April 3, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28381691/autoimmune-bullous-disease-and-hashimoto-s-disease-complicated-by-acquired-hemophilia-a
#18
Nobuko Nishiura, Daisuke Ujimoto, Jiro Fujita, Tetsuo Maeda, Yukinobu Nakagawa, Hirokazu Kashiwagi, Kenji Oritani, Yoshiaki Tomiyama, Yuzuru Kanakura
A 67-year-old man was admitted with a 1-month history of spontaneous hematoma in his right back and severe anemia. He had suffered from rashes with blisters involving both legs for 10 years, which had shown worsening and extended to his entire body concurrently with the hematoma. APTT was markedly prolonged to 119 seconds, and Factor VIII:C and FVIII inhibitor levels were less than 1% and 153.1 BU/ml, respectively, confirming the diagnosis of acquired hemophilia A (AHA). Skin biopsy revealed his rashes to be caused by autoimmune bullous disease (ABD), and laboratory and physical findings showed that he also had autoimmune hypothyroidism (Hashimoto's disease)...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28380473/successful-management-of-a-patient-with-autoimmune-hemorrhaphilia-due-to-anti-factor-xiii-13-antibodies-complicated-by-pulmonary-thromboembolism
#19
Yoshiyuki Ogawa, Kunio Yanagisawa, Masayoshi Souri, Masahiro Mihara, Chiaki Naito, Makiko Takizawa, Takuma Ishizaki, Takeki Mitsui, Hiroshi Handa, Tsukasa Osaki, Yoshihisa Nojima, Akitada Ichinose
Autoimmune hemophilia-like disease (hemorrhaphilia) due to anti-factor XIII (FXIII) antibodies (AH13) is a very rare, life-threatening bleeding disorder. A 77-year-old woman developed macrohematuria and a right renal pelvic hematoma. The coagulation times were not prolonged, but FXIII activity and antigen levels were severely and moderately reduced to 9 and 29% of normal values, respectively. Accordingly, the FXIII-specific activity turned out to be low. FXIII inhibitor and anti-FXIII-A subunit autoantibodies were detected by a 1:1 crossmixing test and immunoblot and immunochromatographic assays...
April 6, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28374963/mortality-caused-by-intracranial-bleeding-in-non-severe-hemophilia-a-patients
#20
Janneke I Loomans, Corien L Eckhardt, Sylvia E Reitter-Pfoertner, Margareta Holmström, Britta Laros van Gorkom, Frank W G Leebeek, Cristina Santoro, Saturnino Haya, Karina Meijer, Marten R Nijziel, Johanna G Van der Bom, Karin Fijnvandraat
INTRODUCTION: Non-severe hemophilia (factor VIII concentration (FVIII:C) 2-40 IU/dL) is characterized by a milder bleeding phenotype than severe hemophilia A. However, some patients with non-severe hemophilia A suffer from severe bleeding complications that may result in death. Data on bleeding-related causes of death, such as fatal intracranial bleeding in non-severe patients are scarce. Such data may provide new insight in areas of care that can be improved. AIMS: To describe mortality rates, risk factors and co-morbidities associated with fatal intracranial bleeding in non-severe hemophilia A patients...
April 4, 2017: Journal of Thrombosis and Haemostasis: JTH
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