Results 61 to 70 of about 13,000,271 (286)

Prenatal and molecular diagnosis of hemophilia B [PDF]

American Journal of Hematology, 1996
Prenatal diagnosis was carried out on a woman who had previously given birth to a son with a spontaneous mutation of C-->T transition at nt 31133 of the factor IX (F.IX) gene. The diagnosis was performed on chorionic villi sampling by the method of amplification-created restriction site (ACRS).
Jyh-Pyng Gau, Ji-Hsiung Young, Han-Tien Hu, Jyh-Chwan Wang   +3 more
openaire   +3 more sources

Relationship between Dose, Factor IX Activity Levels and Bleeding Probability for rIX‐FP Prophylaxis in Hemophilia B: A Repeated Time‐to‐Event Analysis

Clinical Pharmacology &Therapeutics, EarlyView.
In hemophilia B, pharmacokinetic (PK)‐guided dosing of extended half‐life factor IX (EHL‐FIX) concentrates can secure targeted FIX exposure. Target FIX activity levels in plasma should be individually set primarily taking bleeding tendency into account, alongside the presence of target joints, physical activity, and preferred dosing schedules. In other
Sjoerd F. Koopman, Marjon H. Cnossen, Ron A.A. Mathot, on behalf of the OPTI‐CLOT study group and SYMPHONY consortium, S. H. Reitsma   +4 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  

Optimizing Patient Registries for Regulatory Decision Making ‐ Key Learnings From an HMA/EMA Multistakeholder Workshop

Clinical Pharmacology &Therapeutics, EarlyView.
The Joint Heads of Medicines Agencies and European Medicines Agency's (HMA/EMA) big data initiative paves the way for better integration of real‐world data, including data from patient registries, into regulatory decisions on medicines. This article focuses on the outcome of a two‐day multistakeholder workshop organized by EMA in 2024, which explored ...
Kelly Plueschke, Carla Jonker, Hanna Kankanen, Thorsten Vetter, Bruno Sepodes, Lutz Naehrlich, Jan Hillert, Gracy Crane, Sabine Straus, Paolo Foggi, Simona Martin, Christina Kyriakopoulou, Peter Mol, Francesca Day, Kieran Breen, Neil Bennett, Mencia de Lemus Belmonte, Simon Bennett, Patrice Verpillat, Kit C. B. Roes, Ana Cochino, Franz Schaefer, Jesús María Hernández‐Rivas, Patricia McGettigan, Peter Arlett   +24 more
wiley   +1 more source

Pharmacokinetic Study of Recombinant Human Factor IX in Previously Treated Patients with Hemophilia B in Taiwan

Journal of the Formosan Medical Association, 2007
The pharmacokinetic (PK) study of recombinant human factor IX (rFIX) has been done in patients with hemophilia B in areas other than Taiwan. However, wide patient-related variability in recovery is noted and there is no PK study of rFIX in Taiwanese ...
Hsiu-Hao Chang, Yung-Li Yang, Mei-Hua Hung, Woei Tsay, Ming-Ching Shen   +4 more
doaj   +1 more source

Why should hemophilia B be milder than hemophilia A?

Haematologica, 2016
We read with interest the report by Melchiorre et al .[1][1] on the milder clinical parameters in hemophilia B as compared to hemophilia A. The single most important factor which contributes to the severity of hemophilia is the nature of mutations.
Shrimati Shetty, Kanjaksha Ghosh
openaire   +4 more sources

Quantifying Critical Quality Attributes of Protein Therapeutics by Sodium Dodecyl Sulfate–Capillary Gel Electrophoresis With Native Fluorescence Detection

ELECTROPHORESIS, EarlyView.
ABSTRACT In the biopharmaceutical industry, the sodium dodecyl sulfate–capillary gel electrophoresis (SDS–CGE) assay is often used to assess therapeutic critical quality attributes (CQAs). Traditional detection methods for SDS–CGE methods, such as ultraviolet (UV) absorbance and laser‐induced fluorescence (LIF), are widely used but come with ...
Zaifang Zhu
wiley   +1 more source

Could PTH/Ca Ratio Serve as a New Marker for Evaluating Bone Metabolism in Hemophilia Patients?

Diagnostics
Background/Objectives: Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity.
Tuba Ersal, Fazıl Çağrı Hunutlu, Vildan Gürsoy, Ezel Elgün, Şeyma Yavuz, İpek Dal Akkuş, İlayda Baş, Vildan Özkocaman, Fahir Özkalemkaş   +8 more
doaj   +1 more source

Origin of Swedish hemophilia B mutations [PDF]

Journal of Thrombosis and Haemostasis, 2013
More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations.To describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are ...
Christina Lind-Halldén, Christer Halldén, Annika Mårtensson, Daniel Nilsson, Daniel Nilsson, Torbjörn Säll, Rolf Ljung, Annika C. Lidén   +7 more
openaire   +3 more sources

Exploring the Potential and Advancements of Circular RNA Therapeutics

Exploration, EarlyView.
Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang, Lianqing Wang, Chunbo Dong, Jialong Liu, Guoxin Cui, Shan Gao, Zhida Liu   +6 more
wiley   +1 more source