Results 21 to 30 of about 83,381 (315)

Mild hemophilia A [PDF]

Journal of Thrombosis and Haemostasis, 2010
Mild hemophilia A (HA), defined by clinical features and factor VIII coagulant activity (FVIII:C) between 0.05 and 0.40 IU mL(-1), is characteristically distinct from severe HA. Indeed, although the molecular characterization of mild HA has permitted the identification of specific underlying mutations, its clinical phenotype is strikingly different ...
Franchini M, Favaloro EJ, LIPPI, Giuseppe   +2 more
openaire   +3 more sources

MOLECULAR MECHANISMS OF INHIBITOR DEVELOPMENT IN HEMOPHILIA

Mediterranean Journal of Hematology and Infectious Diseases, 2020
The development of neutralizing antibodies in hemophilia is a serious complication of factor replacement therapy. These antibodies, also known as “inhibitors”, significantly increase morbidity within the hemophilia population and lower the quality of ...
Davide Matino, Paul Tieu, Dr., Antony Chan   +2 more
doaj   +1 more source

Occurrence of FVIII Inhibitors in Hemophilia A Patients Following an Institutional Switch to a Third Generation B-Domain-Deleted FVIII

Clinical and Applied Thrombosis/Hemostasis, 2023
In 2018, Refacto AF R , a B-domain-deleted third-generation FVIII concentrate, became our preferential product. After the introduction, the development of inhibitors was prospectively monitored; retrospectively, we sought for risk factors in the patients
Louise H Hooimeijer MD, Marjet A Stein-Wit MD, Marja AJ Voskuilen RN, Michaël V Lukens PhD, Karina Meijer MD, PhD, Anja BU Mäkelburg MD, PhD, Rienk YJ Tamminga MD, PhD   +6 more
doaj   +1 more source

The history and evolution of the clinical effectiveness of haemophilia type a treatment: a systematic review. [PDF]

, 2012
First evidence of cases of haemophilia dates from ancient Egypt, but it was when Queen Victoria from England in the 19th century transmitted this illness to her descendants, when it became known as the "royal disease".
A Aleem, A Farrugia, A Miners, A Mocroft, AL Dunn, BA Konkle, BL Evatt, BM Feldman, CA Lee, CL Poel Van der, Claudia P. Casas, D Dimichele, D Dimichele, E Berntorp, E Berntorp, E Santagostino, Hector E. Castro, J Astermark, J Goudemand, J Oldenburg, J Stachnik, J Tusell, J Wight, Juan David Rueda, K Porter, L Valentino, L Valentino, LM Aledort, M Carcao, M Carcao, M Depka Von, M Franchini, M Lloyd, M Makris, María Fernanda Briceño, MD Carcao, MV Ragni, P Petrini, PM Mannucci, PM Mannucci, R Prabhu, S Royal, SA Larsson, SC Darby, SC Gouw, T Wong, TL Chorba, VS Blanchette, WK Hoots   +48 more
core   +2 more sources

Porcine model of hemophilia A. [PDF]

PLoS ONE, 2012
Hemophilia A is a common X chromosome-linked genetic bleeding disorder caused by abnormalities in the coagulation factor VIII gene (F8). Hemophilia A patients suffer from a bleeding diathesis, such as life-threatening bleeding in the brain and harmful ...
Yuji Kashiwakura, Jun Mimuro, Akira Onishi, Masaki Iwamoto, Seiji Madoiwa, Daiichiro Fuchimoto, Shunichi Suzuki, Misae Suzuki, Shoichiro Sembon, Akira Ishiwata, Atsushi Yasumoto, Asuka Sakata, Tsukasa Ohmori, Michiko Hashimoto, Satoko Yazaki, Yoichi Sakata   +15 more
doaj   +1 more source

Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway. [PDF]

, 2003
A systematic evaluation of the influence of sex on transduction by recombinant adeno-associated viral vector (rAAV) indicated that transgene expression after liver-targeted delivery of vector particles was between 5- to 13-fold higher in male mice ...
Davidoff, AM, Nathwani, AC, Ng, CYC, Spence, Y, Zhou, J   +4 more
core   +1 more source

Thromboelastography in pre-surgery monitoring in Hemophilia A with high inhibitor titer: case report and literature review

Romanian Journal of Laboratory Medicine, 2020
The development of factor VIII inhibitors (allo-antibodies) continues to be a major complication in the management of severe forms of hemophilia A, especially as far as treatment and treatment response monitoring is concerned.
Melen Brinza, Uscatescu Valentina, Gheorghe Georgiana, Chiriac Elisabeta, Ciobanu Claudia, Orban Horia, Coriu Daniel   +6 more
doaj   +1 more source

An international registry of patients with plasminogen deficiency (HISTORY)

Haematologica, 2020
Plasminogen deficiency is an ultra-rare multisystem disorder characterized by the development of fibrin-rich pseudomembranes on mucous membranes. Ligneous conjunctivitis, which can result in vision impairment or loss, is the most frequent symptom ...
Amy D. Shapiro, Marzia Menegatti, Roberta Palla, Marco Boscarino, Christopher Roberson, Paolo Lanzi, Joel Bowen, Charles Nakar, Isaac A. Janson, Flora Peyvandi   +9 more
doaj   +1 more source

Current Situation and Prospect of Pharmacoeconomic Evaluation of Hemophilia in China

罕见病研究, 2022
In 2018, hemophilia, one of the first ones, entered into the catalogue of Rare Disease in China. However, drug accessibility and affordability have been the challenges for hemophilia patients.
LI Shunping, DOU Lei, FANG Yunhai
doaj   +1 more source

Hemophilia of orbit

Oman Journal of Ophthalmology, 2009
Hemophilic pseudotumor is an uncommon complication of factor VIII and IX deficiencies in the coagulation cascade and occurs in a wide spectrum of bones and soft tissues. We present a six-year-old boy with hemophilic pseudotumor localized in the right orbit.
Pooja Sethi, Gunaseelan Karunanithi, Vivekanandam, Sathyanarayana Kanipakapatanam Reddy   +3 more
openaire   +4 more sources