Results 51 to 60 of about 48,361 (234)

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal of Hematology, 2020
Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey ...
Tahir Atik, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Moharram Shamsali, Kaan Kavaklo, Melike Evim, Gülen Tüysüz, Namık Yaşar Özbek, Fahri Şahin, Zafer Salcıoğlu, Canan Albayrak, Yeşim Oymak, Ekrem Ünal, Fatma Burcu Belen, Ebru Yılmaz Keskin, Can Balkan, Birol Baytan, Alphan Küpesiz, Vildan Culha, Tuba Nur Tahtakesen, Adalet Meral Güneş, Ferda Özkınay   +22 more
doaj   +1 more source

Current gynaecological management of women and girls with bleeding disorders in the United Kingdom: A UKHCDO haemophilia treatment centre survey and evaluation of real‐world clinical practice for the British Journal of Haematology

British Journal of Haematology, EarlyView.
Summary Girls and women with bleeding disorders (GWBD) comprise more than half of all registered patients with bleeding disorders in the UK National Haemophilia Database. The gynaecological care of GWBD, until recently, has not been prioritised despite high health burdens, where four of every five patients experience heavy menstrual bleeding (HMB).
Laura Knox, Imogen Swart‐Rimmer, Naim Rahimi, Callum Harris, Lugain Abdalla, Gary Benson, Clare Brown, Helen Campbell, Ana Carvalhosa, Justin T. Clarke, Sarah Garside, Claire Lentaigne, Jayna Mistry, Priyanka Raheja, Cora Warren, Rezan Abdul‐Kadir, Gill Lowe, Nicola Curry   +17 more
wiley   +1 more source

Suboptimal screening and correction of maternal iron deficiency anaemia in the general population and in inherited bleeding disorders: A population‐based cohort study

British Journal of Haematology, EarlyView.
Summary Iron deficiency anaemia (IDA) is associated with adverse pregnancy outcomes globally. Women with inherited bleeding disorders are at increased risk, with scarce data on rates of IDA screening and correction during pregnancy. The impact of correction on outcomes is unclear.
Arafat Ul Alam, Padma Kaul, Venu Jain, Cynthia Wu, Haowei (Linda) Sun   +4 more
wiley   +1 more source

Changes over the last two decades in Hemophilia A and B management in a Tertiary Care Pediatric Centre

Clinical Epidemiology and Global Health
Objective: The treatment of Hemophilia A and B has significantly evolved. Study design: we conducted a retrospective, observational study among patients with HA and HB managed in a Pediatric Hematology and Oncology Unit for almost 22 years for a total of
M.P. Esposto, E. Bonetti, R. Balter, V. Pezzella, A. Zaccaron, V. Vitale, G. Caddeo, M. Chinello, G. Tridello, G. Poli, S. Cesaro   +10 more
doaj   +1 more source

Safety and Efficacy of Damoctocog Alfa Pegol in Previously Treated Children Aged 7 to < 12 Years With Severe Haemophilia A in the Phase 3, Open Label Alfa‐PROTECT Main Study

European Journal of Haematology, EarlyView.
ABSTRACT Background In the earlier PROTECT VIII Kids study (NCT01775618), damoctocog alfa pegol was efficacious for prevention and treatment of bleeds in children aged < 12 years with severe haemophilia A. Objective Assess the safety of damoctocog alfa pegol, including hypersensitivity and loss of efficacy (LoE) due to an immune response to ...
Margareth C. Ozelo, Matteo Luciani, Heidi Glosli, Kaan Kavakli, Nasrin Samji, Gregory C. Makris, Claudia Tueckmantel, Monika Maas Enriquez, Luciana C. Oliveira, Shveta Gupta, Mario Guillermo Arbesú, Mauro Davoli, Anthony K. C. Chan, Maria E. Mancuso   +13 more
wiley   +1 more source

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF‐McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.
Mark W. Skinner, Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T. Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L. Dunn, Miguel A. Escobar, Carmen Escuriola‐Ettingshausen, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez‐Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F. Pierce, Gloria Ramos, Michael Recht, Olivia Romero‐Lux, Dawn Rotellini, Rita C. Santoro, Tammuella C. Singleton, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A. Valentino, Jerzy Windyga, Renchi Yang, Maria Elisa Mancuso, also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH   +59 more
wiley   +1 more source

Health‐Related Quality of Life in Adult Patients With von Willebrand Disease From Germany: Results of the WIL‐QoL Study

Haemophilia, EarlyView.
ABSTRACT Introduction Assessment of health‐related quality of life (HRQoL) is relatively new in von Willebrand disease (VWD). So far, generic questionnaires have mainly been used for HRQoL assessment in VWD. Aims To assess generic and disease‐specific HRQoL in adult VWD patients and compare HRQoL with the general German population.
Sylvia von Mackensen, Carolin Moorthi, Ronald Fischer, Susan Halimeh, Christine Heller, Wolfgang Miesbach, Freimut H. Schilling, Cornelia Wermes, Guenter Auerswald, the WIL‐QoL study group, Karin Beutel, Georg Goldmann, Bettina‐Kemkes Matthes, Robert Klamroth, Ralf Knöfler, Christoph Male, Johannes Oldenburg, Ute Scholz   +17 more
wiley   +1 more source

The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B

Blood Advances, 2018
: Data are needed on minimal factor activity (FA) levels required to prevent bleeding in hemophilia. We aimed to evaluate associations between hemophilia type and FA level and joint bleeding and orthopedic procedures using longitudinal data.
J. Michael Soucie, Paul E. Monahan, Roshni Kulkarni, Barbara A. Konkle, Marshall A. Mazepa   +4 more
doaj   +1 more source