Abstract:Homogeneous, single-chain human factor V was used to develop a double antibody competition radioimmunoassay to measure factor V concentrations in plasma and platelets. Standard curves were constructed that allow for the detection of as little as 20 ng factor V/ml of plasma. Normal factor V concentrations range from 4 to 14 micrograms/ml of plasma with an average value of 7.0 +/- 2.0 micrograms/ml (n = 64). No correlation was observed between antigen levels and age or sex. The radioimmunoassay data are consiste… Show more
“…The factor Va level is ∼20 nM. [13][14][15] Factor Va acts as a cofactor during coagulation to substantially improve the catalytic efficiency of large enzyme complexes, thereby playing an important role in the rapid formation of thrombin. Congenital FVD is usually related to FV gene defects that lead to loss of function of FV.…”
Section: Discussionmentioning
confidence: 99%
“…The amino acid sequence of the light chain is partially homologous to the carboxyl terminal sequence of human factor VIII. The factor Va level is ∼20 nM 13–15. Factor Va acts as a cofactor during coagulation to substantially improve the catalytic efficiency of large enzyme complexes, thereby playing an important role in the rapid formation of thrombin.…”
Objective:
The aim was to investigate the clinical characteristics and molecular pathogenic mechanism of twins with congenital factor V (FV) deficiency.
Methods:
We comprehensively analyzed the clinical manifestations and laboratory test results of a set of twins and their parents and performed point mutation analysis with direct high-throughput exon sequencing.
Results:
The prothrombin time and activated partial thromboplastin time were prolonged for both probands, and the FV activity levels were 13.0% and 9.8%. Next-generation sequencing showed that the affected individuals harbored a paternal c.5113A>C (p.S1705R) and a maternal c.4949C>T (p.A1650V) heterozygous variants in the FV gene, which conformed to an autosomal recessive inheritance pattern. This is the first report of these point mutations. The older boy also had a congenital patent foramen ovale.
Conclusion:
In this set of twins, missense mutations of the FV gene were related to congenital FV deficiency but unrelated to the patent foramen ovale observed in the older boy.
“…The factor Va level is ∼20 nM. [13][14][15] Factor Va acts as a cofactor during coagulation to substantially improve the catalytic efficiency of large enzyme complexes, thereby playing an important role in the rapid formation of thrombin. Congenital FVD is usually related to FV gene defects that lead to loss of function of FV.…”
Section: Discussionmentioning
confidence: 99%
“…The amino acid sequence of the light chain is partially homologous to the carboxyl terminal sequence of human factor VIII. The factor Va level is ∼20 nM 13–15. Factor Va acts as a cofactor during coagulation to substantially improve the catalytic efficiency of large enzyme complexes, thereby playing an important role in the rapid formation of thrombin.…”
Objective:
The aim was to investigate the clinical characteristics and molecular pathogenic mechanism of twins with congenital factor V (FV) deficiency.
Methods:
We comprehensively analyzed the clinical manifestations and laboratory test results of a set of twins and their parents and performed point mutation analysis with direct high-throughput exon sequencing.
Results:
The prothrombin time and activated partial thromboplastin time were prolonged for both probands, and the FV activity levels were 13.0% and 9.8%. Next-generation sequencing showed that the affected individuals harbored a paternal c.5113A>C (p.S1705R) and a maternal c.4949C>T (p.A1650V) heterozygous variants in the FV gene, which conformed to an autosomal recessive inheritance pattern. This is the first report of these point mutations. The older boy also had a congenital patent foramen ovale.
Conclusion:
In this set of twins, missense mutations of the FV gene were related to congenital FV deficiency but unrelated to the patent foramen ovale observed in the older boy.
Staging System [24] and chromosomal abnormalities determined by standard metaphase karyotype and/or fluorescence in situ hybridization (FISH). Treatment-induced adverse events were graded according to the National Cancer Institute common terminology criteria for adverse events (CTCAE) version 4.0. For response assessment we utilized the International Uniform Response Criteria for Mutiple Myeloma [25]. The main endpoint of the study was to determine the overall response rate for high-dose cyclophosphamide in bortezomib-refractory MM patients. Secondary endpoints were to determine median overall survival, frequency and severity of adverse events. Progression free survival and duration of response was not estimated since this endpoint was distorted by the high proportion of patients undergoing transplantation immediately after a response was obtained. We reported proportions with their respective 95% confidence intervals. Continuous numerical variables were described using their median and range. Overall survival was described utilizing the method of Kaplan-Meier. Statistical analysis was performed the software SPSS (version 16).
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