1/82. Thromboembolic phenomena in patients with hereditary factor xi deficiency.factor xi deficiency is an hereditary coagulopathy that is usually associated with milder tendency to bleeding with comparison to hemophilia a. While the failure of stable fibrin clot formation may lead to bleeding, it is speculated that the same process may provide a protection against thrombosis of injured arteries due to atherosclerotic plaque rupture. Whereas 2 studies indicate that hemophiliacs have decreased mortality rate from cardiovascular diseases, there is no similar data regarding factor xi deficiency patients. In here we report about 3 patients with severe factor xi deficiency who have a long-standing history of thromboembolic phenomena: 2 patients with myocardial infarctions, and one patient with transient ischemic attacks. We discuss the possible role of factor XI in thrombosis, and whether its deficiency may protect patients from thromboembolic phenomena.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/82. Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease.The findings of Factor XI (plasma thromboplastin antecedent) deficiency in a patient with Gaucher's disease was investigated. A family study, which included measurements of leukocyte glucocerebrosidase activity and Factor XI levels, revealed that the two genetic disorders segregated independently. One of 12 additional unrelated patients with Gaucher's disease showed a diminished Factor XI level and two of seven unrelated Factor XI-deficient patients showed decreased glucocerebrosidase activity. It is possible that the common occurrence of both genetic disorders results from a high gene frequency of both defects in Ashkenazic jews.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
3/82. factor xi deficiency: literature review and case presentation.factor xi deficiency is a rare hereditary bleeding disorder affecting the intrinsic pathway. Understanding the pathophysiology and clinical significance of this disease entity can help avoid potentially hazardous sequelae. This case presentation discusses laboratory criteria and serum assaying techniques utilized to appropriately manage preoperative or post-traumatic patients suffering from factor xi deficiency.- - - - - - - - - - ranking = 0.75keywords = deficiency (Clic here for more details about this article) |
4/82. PTA deficiency (factor xi deficiency). Report of a case.A case of a relatively rare coagulopathy has been presented. The mode of inheritance and the incidence of the disease have been discussed. methods of screening, diagnosis, and treatment of PTA deficiency have been suggested. We have concluded that if a coagulation screen for patients about to undergo oral surgery in a hospital is contemplated, either a partial thromboplastin time or a thromboplastin generation time should be included.- - - - - - - - - - ranking = 1.125keywords = deficiency (Clic here for more details about this article) |
5/82. A novel type of factor xi deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription.We studied a 29-year-old Japanese male patient with factor xi deficiency; we also studied his parents and one sibling. Factor XI coagulation activity and antigen levels were extremely low (less than 1% of normal level) in both the patient and his brother, and they were half the normal levels in both parents. sequence analysis of all 15 exons and the exon-intron boundaries of the factor XI gene amplified by polymerase chain reaction revealed a nonsense mutation in exon 8 (Gln263-->Stop). Although the parents are first cousins, the mutation was unexpectedly heterozygous in all the family members except the father, who showed the homozygous wild type, indicating that this mutation alone was not sufficient to account for the factor xi deficiency. To explore the genetic abnormality in the father, we analyzed allele-specific expression of the platelet factor XI gene using reverse transcription-polymerase chain reaction and subsequent restriction enzyme digestion. As a result, gene expression from only one allele was severely impaired in the father. This result implies an additional mutation in some regulatory element of the factor XI gene from paternal inheritance. We concluded that the factor xi deficiency of the patient was caused by compound heterozygous genetic abnormalities.- - - - - - - - - - ranking = 0.875keywords = deficiency (Clic here for more details about this article) |
6/82. A factor xi deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain.We identified a novel mutation in an asymptomatic 65-year-old Japanese man with severe factor xi deficiency. sequence analysis after polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) analysis of his factor XI gene revealed a G-->A transition in codon 501 of exon 13, resulting in a substitution of Trp501 (TGG) by a stop codon (TAG) in the catalytic domain. This mutation abolished a FokI restriction site. The PCR product from normal subjects was digested with FokI and yielded two fragments, one of 223 bp and one of 47 bp. The PCR product from the patient gave a single 270-bp fragment, demonstrating possible homozygosity.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
7/82. Molecular genetic analysis of factor xi deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.Coagulation factor XI (FXI) deficiency is an inherited autosomal recessive mild bleeding disorder. In this study, we report the molecular genetic analysis of FXI deficiency in six unrelated families of Portuguese origin. The Jewish type II mutation was found in two families, of seemingly Portuguese origin. Haplotype analysis in these families demonstrated that this mutation is of Jewish origin. In the remaining families, five novel FXI mutations have been identified. Two of these mutations (FXI IVS K -10T-->A and FXI 1026G-->T, cd 324) affect the FXI pre-mRNA splicing. A further two (FXI 307 ins AAGCAAT, cd 85 and FXI 1072 del A, cd 340) introduce frameshifts leading to premature termination codons. The FXI splicing mutation, 1026G-->T cd 324, was found in compound heterozygosity with missense mutation FXI K518N. Analysis of the FXI mRNA from the latter genotype demonstrated new donor splice site usage. All reported mutations most likely result in functional null-alleles. In addition, three novel polymorphisms have been identified: at nt -138 in intron A, at codon D125 in exon 5 and at codon T249 in exon 8.- - - - - - - - - - ranking = 0.75keywords = deficiency (Clic here for more details about this article) |
8/82. factor xi deficiency-related spontaneous primary intraventricular hemorrhage.factor xi deficiency (plasma thromboplastin antecedent deficiency) is a rare autosomal-dominant disorder. Neurologic complications in factor xi deficiency are even rarer. We propose that the factor xi deficiency in our patient contributed to a primary intraventricular hemorrhage.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/82. A case of chronic myelomonocytic leukaemia and factor xi deficiency with a circulating anticoagulant.Inhibitors against factor XI (FXI) have been frequently described in patients who acquired inhibitors (due to auto-immune disorders, malignancies or infections), but less often in those with a congenital deficiency of this factor, who had received plasma infusions. The present report concerns one such inhibitor found in the plasma of a patient with chronic myelomonocytic leukaemia and infected by B19 parvovirus, who was neither a heterozygote nor a homozygote for FXI deficiency, and who had no bleeding tendency despite a very low FXI level. Taking this case into account, we discuss and present the clinical and biological features of acquired FXI deficiency caused by an inhibitor.- - - - - - - - - - ranking = 0.875keywords = deficiency (Clic here for more details about this article) |
10/82. Severe factor xi deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 G).We investigated a 42-year-old Caucasian woman with severe factor xi deficiency and her family members. Restriction enzyme analysis and dna sequencing revealed compound heterozygosity in the patient for the known type III mutation, which is a Phe283Leu amino acid substitution in the fourth apple domain causing impaired dimerization and secretion, and for a novel frameshift mutation in exon 9 (codons 324/325 G), leading to premature termination with lack of parts of the fourth apple domain and the downstream serine protease domain.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
| | Next -> |