keyword
MENU ▼
Read by QxMD icon Read
search

Hemophilia B

keyword
https://www.readbyqxmd.com/read/28634557/dental-management-of-a-child-with-incidentally-detected-hemophilia-report-of-a-clinical-case
#1
Ricardo Martínez-Rider, Arturo Garrocho-Rangel, Raúl Márquez-Preciado, María Victoria Bolaños-Carmona, Socorro Islas-Ruiz, Amaury Pozos-Guillén
Children with hemophilia (A or B) are at risk for bleeding episodes, which rank from mild mucosal/soft tissues bleeding to life-threatening hemorrhages. This report describes the dental/medical management provided to an 8.10-year-old patient suffering from uncontrolled bleeding after a surgical procedure to expose both permanent upper central incisors, in which hemophilia was a pure incidental finding. Additionally, diverse precautions to be considered during the dental clinical treatment of hemophilic children are discussed...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28628105/identification-of-liver-specific-enhancer-promoter-activity-in-the-3-untranslated-region-of-the-wild-type-aav2-genome
#2
Grant J Logan, Allison P Dane, Claus V Hallwirth, Christine M Smyth, Emilie E Wilkie, Anais K Amaya, Erhua Zhu, Neeta Khandekar, Samantha L Ginn, Sophia H Y Liao, Sharon C Cunningham, Natsuki Sasaki, Martí Cabanes-Creus, Patrick P L Tam, David W Russell, Leszek Lisowski, Ian E Alexander
Vectors based on adeno-associated virus type 2 (AAV2) are powerful tools for gene transfer and genome editing applications. The level of interest in this system has recently surged in response to reports of therapeutic efficacy in human clinical trials, most notably for those in patients with hemophilia B (ref. 3). Understandably, a recent report drawing an association between AAV2 integration events and human hepatocellular carcinoma (HCC) has generated controversy about the causal or incidental nature of this association and the implications for AAV vector safety...
June 19, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28612430/igg-subclasses-of-fviii-inhibitors-in-an-argentine-cohort-of-severe-hemophilia-a-patients-analysis-by-flow-cytometry
#3
M B Irigoyen, L Primiani, M Felippo, M Candela, M M E de Bracco, N V Galassi
INTRODUCTION: FVIII inhibitors consist of a polyclonal population of antibodies. Previous studies have demonstrated different distribution of IgG subclasses. IgG4 was associated to high level of FVIII inhibitors and failure of immune tolerance induction (ITI) treatment. This study monitored the relative distribution of IgG subclasses of anti-FVIII in patients with severe hemophilia A (SHA). METHODS: Anti-FVIII antibodies were measured employing an immunomethod, developed in our laboratory, that combines flow cytometry (FC) with microspheres coupled (FVIII-m) or not (Control-m) to FVIII...
June 14, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28599169/modifiers-of-clinical-phenotype-in-severe-congenital-hemophilia
#4
Massimo Franchini, Pier Mannuccio Mannucci
Patients with inherited hemophilia A and B usually exhibit a bleeding tendency of a severity proportional to the degree of plasmatic deficiency of the coagulant activity of factor VIII (FVIII:C) and factor IX (FIX:C). Although patients with severe hemophilia (i.e., with FVIII:C and FIX:C levels <1IU/dL) are generally those with the most severe bleeding phenotype, it is common experience that a variable proportion of them experiences a milder bleeding tendency. In this review, we summarize the current knowledge on the possible mechanisms at the basis of the phenotypic heterogeneity of severe hemophilia, focusing in particular on the role of FVIII/FIX gene mutations and thrombophilic polymorphisms...
June 1, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28598970/seroprevalence-and-clinical-characteristics-of-viral-hepatitis-in-transfusion-dependent-thalassemia-and-hemophilia-patients
#5
Tyng-Yuan Jang, Pei-Chin Lin, Ching-I Huang, Yu-Mei Liao, Ming-Lun Yeh, Yu-Sheng Zeng, Po-Cheng Liang, Wan-Yi Hsu, Shih-Pien Tsai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Chia-Yen Dai, Chung-Feng Huang, Shyh-Shin Chiou, Wan-Long Chuang, Ming-Lung Yu
BACKGROUND/AIMS: Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. METHODS: A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance...
2017: PloS One
https://www.readbyqxmd.com/read/28565740/-retrospectively-analysis-of-the-difference-of-bleeding-frequency-and-hemophilic-arthropathy-between-hemophilia-a-and-hemophilia-b-patients
#6
S X Wang, Y Guan, Y B Nie, H Y Li, B Y Sun, X Y Wang, R C Yang
Objective: To analyze the difference of bleeding frequency, plain radiographic (X-ray) , risk factors in hemophilic arthropathy progression and the Arnold-Hilgartner classification. Methods: A retrospective study was conducted in 211 hemophilia patients hospitalized in our medical center between January 2007 and December 2010, some patients with hemarthrosis were followed up for 5 years. Results: All patients were male, including 150 hemophilia A (HA) and 61 hemophilia B (HB) . The HA patients bled more frequently than HB patients with annualized total bleeding rate 20...
May 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28561280/anti-fc%C3%AE-riib-cd32-antibodies-differentially-modulate-murine-fviii-specific-recall-response-in-vitro
#7
Nadine Vollack, Julia Friese, Sabine Bergmann, Mark S Cragg, Andreas Tiede, Sonja Werwitzke
Fc gamma receptors (FcγRs) for IgG regulate adaptive immune responses by modulating activating and inhibitory signaling pathways within immune cells. Data from a hemophilia A mouse model demonstrate that genetic deletion or blockade of the inhibitory FcγR (CD32) suppresses the formation of antibody secreting cells (ASCs) in vitro. Mechanisms preventing the FVIII-specific recall response, however, remain unclear. Here, the potential role of CD32 inhibition was studied by differentially modulating receptor activity with selected anti-CD32 monoclonal antibodies (mAbs)...
May 31, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28556675/a-new-modeling-approach-allowing-prediction-and-comparison-of-the-long-term-outcomes-of-treatments-for-hemophilia-b
#8
Marjolijn van Keep, Christina Stentoft Hoxer, Matthew Hemstock, Andreas Velsing Groth, Christopher Knight
AIM: To develop a modeling approach to compare clinical outcomes of nonacog beta pegol to a standard-acting factor IX (FIX) product. METHODS: Regression analysis linked FIX activity to bleed rates. Pharmacokinetic parameters were used to estimate FIX activity over time. The probability of bleeds was estimated for both treatment arms. A Markov model estimated the presence of target joints and annualized bleed rates (ABRs). RESULTS: Higher FIX activity showed reduced ABRs (p < 0...
May 30, 2017: Journal of Comparative Effectiveness Research
https://www.readbyqxmd.com/read/28550974/eliminating-hiv-1-packaging-sequences-from-lentiviral-vector-proviruses-enhances-safety-and-expedites-gene-transfer-for-gene-therapy
#9
Conrad A Vink, John R Counsell, Dany P Perocheau, Rajvinder Karda, Suzanne M K Buckley, Martijn H Brugman, Melanie Galla, Axel Schambach, Tristan R McKay, Simon N Waddington, Steven J Howe
Lentiviral vector genomic RNA requires sequences that partially overlap wild-type HIV-1 gag and env genes for packaging into vector particles. These HIV-1 packaging sequences constitute 19.6% of the wild-type HIV-1 genome and contain functional cis elements that potentially compromise clinical safety. Here, we describe the development of a novel lentiviral vector (LTR1) with a unique genomic structure designed to prevent transfer of HIV-1 packaging sequences to patient cells, thus reducing the total HIV-1 content to just 4...
May 17, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28550758/platelets-and-hemophilia-a-review-of-the-literature
#10
REVIEW
Julia Riedl, Cihan Ay, Ingrid Pabinger
Hemophilia A and B are inherited bleeding disorders due to deficiencies of the clotting factors VIII and IX, respectively. The severity of the disease correlates with remaining factor levels, although individual differences in bleeding tendency are seen despite similar factor levels. While thrombin generation is severely impaired in persons with hemophilia, primary hemostasis, i.e. platelet function, has been generally considered to be normal. However, some studies reported prolonged bleeding times in hemophilia, suggesting that also primary hemostasis is affected...
July 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28534860/hemophilia-care-in-the-pediatric-age
#11
REVIEW
Marta Bertamino, Francesca Riccardi, Laura Banov, Johanna Svahn, Angelo Claudio Molinari
Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures-for example, tonsillectomy or circumcision...
May 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28532688/progress-in-the-contemporary-management-of-hemophilia-the-new-issue-of-patient-aging
#12
REVIEW
Pier Mannuccio Mannucci, Massimo Iacobelli
The management of inherited coagulation disorders such as hemophilia A and B has witnessed dramatic progresses since the last few decades of the last century. Accordingly, persons with hemophilia (PWH) now enjoy a life expectancy at birth not different from that of males in the general population, at least in high income countries. Nowadays, a substantial proportion of PWH are aging, like their peers in the general population. This outstanding progress is accompanied by problems that are in part similar to those of any old person (multiple concomitant diseases and the resulting intake of multiple drugs other than those specific for hemophilia treatment)...
May 20, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28530135/prolonged-expression-of-secreted-enzymes-in-dogs-after-liver-directed-delivery-of-sleeping-beauty-transposons-implications-for-non-viral-gene-therapy-of-systemic-disease
#13
Elena L Aronovich, Kendra A Hyland, Bryan C Hall, Jason B Bell, Erik R Olson, Myra Urness Rusten, David W Hunter, N Matthew Ellinwood, R Scott McIvor, Perry B Hackett
The non-viral, integrating Sleeping Beauty (SB) transposon system is efficient in treating systemic monogenic disease in mice, including hemophilia A and B caused by deficiency of blood clotting factors and mucopolysaccharidosis types I and VII caused by α-L-iduronidase (IDUA) and β-glucuronidase (GUSB) deficiency, respectively. Modified approaches of the hydrodynamics-based procedure to deliver transposons to the liver in dogs were recently reported. Using the transgenic canine reporter secreted alkaline phosphatase (cSEAP), transgenic protein in the plasma was demonstrated for up to 6 weeks post infusion...
May 19, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28529666/a-microfluidic-model-of-hemostasis-sensitive-to-platelet-function-and-coagulation
#14
R M Schoeman, K Rana, N Danes, M Lehmann, J A Di Paola, A L Fogelson, K Leiderman, K B Neeves
Hemostasis is the process of sealing a vascular injury with a thrombus to arrest bleeding. The type of thrombus that forms depends on the nature of the injury and hemodynamics. There are many models of intravascular thrombus formation whereby blood is exposed to prothrombotic molecules on a solid substrate. However, there are few models of extravascular thrombus formation whereby blood escapes into the extravascular space through a hole in the vessel wall. Here, we describe a microfluidic model of hemostasis that includes vascular, vessel wall, and extravascular compartments...
February 2017: Cellular and Molecular Bioengineering
https://www.readbyqxmd.com/read/28516863/sporadic-creutzfeldt-jakob-disease-in-2-plasma-product-recipients-united-kingdom
#15
Patrick Urwin, Kumar Thanigaikumar, James W Ironside, Anna Molesworth, Richard S Knight, Patricia E Hewitt, Charlotte Llewelyn, Jan Mackenzie, Robert G Will
Sporadic Creutzfeldt-Jakob disease (sCJD) has not been previously reported in patients with clotting disorders treated with fractionated plasma products. We report 2 cases of sCJD identified in the United Kingdom in patients with a history of extended treatment for clotting disorders; 1 patient had hemophilia B and the other von Willebrand disease. Both patients had been informed previously that they were at increased risk for variant CJD because of past treatment with fractionated plasma products sourced in the United Kingdom...
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28508290/crispr-cas9-mediated-somatic-and-germline-gene-correction-to-restore-hemostasis-in-hemophilia-b-mice
#16
Cong Huai, Chenqiang Jia, Ruilin Sun, Peipei Xu, Taishan Min, Qihan Wang, Chengde Zheng, Hongyan Chen, Daru Lu
Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correction in an F9 mutant HB mouse model in both adult mice (in vivo) and in germline cells (ex vivo). In vivo, naked Cas9-sgRNA plasmid and donor DNA were delivered to HB mice livers to recover the mutation via hydrodynamic tail vein (HTV) injection...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28480313/an-immune-competent-murine-model-to-study-elimination-of-aav-transduced-hepatocytes-by-capsid-specific-cd8-t-cells
#17
Brett Palaschak, Damien Marsic, Roland W Herzog, Sergei Zolotukhin, David M Markusic
Multiple independent adeno-associated virus (AAV) gene therapy clinical trials for hemophilia B, utilizing different AAV serotypes, have reported a vector dose-dependent loss of circulating factor IX (FIX) protein associated with capsid-specific CD8(+) T cell (Cap-CD8) elimination of transduced hepatocytes. Hemophilia B patients who develop transient transaminitis and loss of FIX protein may be stabilized with the immune-suppressive (IS) drug prednisolone, but do not all recover lost FIX expression, whereas some patients fail to respond to IS...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28480307/immune-modulatory-cell-therapy-for-hemophilia-b-based-on-cd20-targeted-lentiviral-gene-transfer-to-primary-b-cells
#18
Xiaomei Wang, Roland W Herzog, Barry J Byrne, Sandeep R P Kumar, Qi Zhou, Christian J Buchholz, Moanaro Biswas
Gene-modified B cells expressing immunoglobulin G (IgG) fusion proteins have been shown to induce tolerance in several autoimmune and other disease models. However, lack of a vector suitable for gene transfer to human B cells has been an obstacle for translation of this approach. To overcome this hurdle, we developed an IgG-human factor IX (hFIX) lentiviral fusion construct that was targeted to specifically transduce cells expressing human CD20 (hCD20). Receptor-specific retargeting by mutating envelope glycoproteins of measles virus (MV)-lentiviral vector (LV) and addition of a single-chain variable fragment specific for hCD20 resulted in gene delivery into primary human and transgenic hCD20 mouse B cells with high specificity...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28460646/evaluation-of-engineered-aav-capsids-for-hepatic-factor-ix-gene-transfer-in-murine-and-canine-models
#19
David M Markusic, Timothy C Nichols, Elizabeth P Merricks, Brett Palaschak, Irene Zolotukhin, Damien Marsic, Sergei Zolotukhin, Arun Srivastava, Roland W Herzog
BACKGROUND: Adeno-associated virus (AAV) gene therapy vectors have shown the best outcomes in human clinical studies for the treatment of genetic diseases such as hemophilia. However, these pivotal investigations have also identified several challenges. For example, high vector doses are often used for hepatic gene transfer, and cytotoxic T lymphocyte responses against viral capsid may occur. Therefore, achieving therapy at reduced vector doses and other strategies to reduce capsid antigen presentation are desirable...
May 1, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28440005/comparing-the-burden-of-illness-of-haemophilia-between-resource-constrained-and-unconstrained-countries-the-s%C3%A3-o-paulo-toronto-hemophilia-study
#20
J D A Carneiro, V Blanchette, M C Ozelo, S V Antunes, P R Villaca, N L Young, D Castro, L R Brandão, M Carcao, A Abad, B M Feldman
INTRODUCTION: Although the regular replacement of clotting factor concentrates (prophylaxis) has been well established as the standard of care for severe haemophilia, the high cost of factor concentrates has limited access to prophylaxis in countries with under-developed or developing economies. AIMS: We studied the health gap that could be addressed by providing unlimited access to clotting factor concentrates with implementation of long-term prophylaxis initiated from an early age in life...
April 24, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
keyword
keyword
6655
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"