نتایج جستجو برای: hemophilia b
تعداد نتایج: 904114 فیلتر نتایج به سال:
BACKGROUND AND OBJECTIVE We describe our three year experience in genetic counseling at the Castelfranco Veneto Hemophilia Center, Italy. DESIGN AND METHODS A total of 258 individuals were involved in the study of 142 females. These formed 40 families with hemophilia A and 6 families with hemophilia B. Following pedigree analysis, the FVIII inversion was first examined in severe hemophilia A ...
Hemophilia is an inherited X-linked coagulopathy defined by a deficiency or abnormality in the clotting function of factor VIII (Hemophilia A) IX B). Prophylaxis – regular administration therapeutic products to maintain hemostasis and prevent bleeding mainstream treatment. Addressing development scientific evidence for administrating prophylaxis goal this review. modality choice people with sev...
Hemophilia is a hereditaty coagulation disorder which is inherited as an X-link recessive trait. Disorder happens in the intrinsic hemostasis pathway, in which there is a deficiency or defect of coagulation factor VIII (Hemophilia A) or IX (Hemophilia B). Hemophilia is comnron in male, though occurrence in female has also been reported. Female usually are carries. Immunologically, there are sev...
The linkage distance on the X chromosome between the genes for hemophilia A (classic hemophilia) and B (PTC deficiency, Christmas disease) was estimated directly by breeding two strains of dogs, each segregating for a different type of hemophilia. Gene expression was determined by bioassays of plasma factor VIII (antihemophilic factor) and factor IX (PTC, Christmas factor). Double heterozygotes...
UNLABELLED BACKGROUND & OBJECTIVE The factor VIII (FVIII) B domain shares very little amino acid homology with other known proteins and is not directly necessary for procoagulant activity. Despite this, missense mutations within the B domain have been reported in patients with hemophilia A. Given that the B domain is dispensable for secretion and function of FVIII, we hypothesized that thes...
Current management of hemophilia B entails multiple weekly infusions of factor IX (FIX) to prevent bleeding episodes. In an attempt to make a longer acting recombinant FIX (rFIX), we have explored a new releasable protraction concept using the native N-glycans in the activation peptide as sites for attachment of polyethylene glycol (PEG). Release of the activation peptide by physiologic activat...
Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...
Hemophilia B is a serious hemostasis disorder due to mutations of the factor IX gene in the X chromosome. Gene therapy has gained momentum in recent years as a therapeutic option for hemophilia B. In hemophilia, reconstitution with a mere 1–2% of the clotting factor improves the quality of life, while 5–20% suffices to ameliorate the bleeding disorder. A paper by Guan et al (2016) in this issue...
Improvements in hemophilia care and antiviral treatments have resulted in increases in median life expectancy for persons with congenital hemophilia A and B. Currently, 2% of hemophilia A and B patients surveyed in US comprehensive hemophilia treatment centers are 65 years of age or older and 15% are 45 years or older. Many of the complications of hemophilia, including intracranial hemorrhage, ...
Aminoglycoside antibiotics exhibit their bactericidal effect by interfering with normal ribosomal activity. In this pilot study, we have evaluated the effect of the aminoglycoside antibiotic gentamicin on the factor VIII (FVIII) and IX levels of severe hemophiliacs with known nonsense mutations. Five patients were enrolled and each patient was given 3 consecutive days of gentamicin at a dose of...
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