Results 21 to 30 of about 48,361 (234)

Establishment and Evolution of China National Hemophilia Registry

罕见病研究, 2022
Hemophilia is an inherited bleeding disorder and a type of rare disease that is hereditary, lifelong and disabling. The establishment of a National Hemophilia Registry is foundational to treating hemophilia.
XUE Feng, YANG Renchi
doaj   +1 more source

Utilization evaluation of factor concentration and frequencyof bleeds among patients with haemophilia "A" and haemophilia "B" in northwest Iran [PDF]

Journal of Analytical Research in Clinical Medicine, 2013
Background Haemophilia A and B are X-linked bleeding disorders which result in decreased blood levels of coagulants. According to some studies, Hemophilia Severity Score (HSS) is higher in severe Haemophilia A(HA) than in severe Haemophilia B(HB ...
Roya Dolatkhah, Morteza Ghojazadeh, Iraj Asvadi Kermani, Zohreh Sanaat, Nasrin Tavassoli, Mehri Gholchin   +5 more
doaj   +1 more source

Balancing Promise and Peril: Hemophilia Gene Therapy Insights. [PDF]

IUBMB Life
ABSTRACT Hemophilia is an inherited disorder characterized by impaired blood clotting caused by mutations in the genes responsible for producing coagulation factor (F) VIII (hemophilia A, HA) or FIX (hemophilia B, HB). Current treatment primarily relies on replacement therapy, involving frequent and costly infusions of FVIII or FIX concentrates.
Akula S, Borroni E, Cottonaro A, Follenzi A, Merlin S.   +4 more
europepmc   +2 more sources

Massive Intra-Abdominal Pseudotumor in a Patient With Hemophilia A Treated With Emicizumab: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Hemophilic pseudotumors, a rare complication of bleeding disorders, are more common in settings with limited access to clotting factor concentrates. Subcutaneous emicizumab, a relatively novel therapy for hemophilia A, was investigated for its ability to stabilize an inoperable pseudotumor in a patient with factor VIII deficiency in an under ...
Kilach CJ, Njuguna C, Njuguna F, Wanjiku CM, Molitor KF, Janson IA, Mbunya SM, Shapiro AD, Sagar J, Greist A.   +9 more
europepmc   +2 more sources

Bleeding Patterns among Severe Hemophilia A and B Patients in West Java

Althea Medical Journal, 2020
Background: The clinical manifestations of hemophilia A (HA) and hemophilia B (HB)are quite similar; however, the bleeding characteristics of these two hemophilia types have been reported to be different. This study aimed to explore the bleeding patterns
Muhammad Mufakkirul Islam, Susi Susanah, Amaylia Oehadian   +2 more
doaj   +1 more source

Study of musculoskeletal complications of hemophilia at a tertiary health-care center in Central India

Journal of Orthopaedic Diseases and Traumatology, 2019
Background: Hemophilia A, an X-linked recessive disorder of coagulation, caused due to the deficiency of coagulation factor-VIII and hemophilia-B caused due to the deficiency of factor-IX cause spontaneous and traumatic bleeding episodes, leading to ...
Sujeet Mishra, Deepak Maravi, Santosh Kumar Mishra, Suresh Uikey   +3 more
doaj   +1 more source

Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A

Haematologica, 2016
Recent evidence suggests that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and ...
Daniela Melchiorre, Silvia Linari, Mirko Manetti, Eloisa Romano, Francesco Sofi, Marco Matucci-Cerinic, Christian Carulli, Massimo Innocenti, Lidia Ibba-Manneschi, Giancarlo Castaman   +9 more
doaj   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Gene therapy for hemophilia B

Bleeding, Thrombosis and Vascular Biology
Dear Editor, I wish to report that the first gene therapy procedure in Italy for the treatment of severe or moderately severe hemophilia B has been successfully administered at the Policlinico of Milan....
Pier Mannuccio Mannucci
doaj   +1 more source

Dual‐Functional Polyphosphoesters for Gene Delivery: Synergistic Effects of Guanidinium and Hydrophobic Side Chains in Degradable Polymers

Advanced Healthcare Materials, EarlyView.
This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche, Andreas Dzierza, Jan Egger, Timo Rheinberger, Christin Weilandt, Frederik R. Wurm, Ivo Nischang, Dagmar Fischer, Kalina Peneva   +8 more
wiley   +1 more source