1/93. A family with hereditary factor x deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X tokyo).We report a new family with hereditary factor x deficiency. The propositus had a markedly prolonged prothrombin time, a mild prolongation of activated partial thromboplastin time and a clotting time activated by russell's viper venom. Factor X activity in plasma was 3 u/dl (normal range 56-138 u/dl). Factor X antigen level was 61 u/dl. Molecular analysis revealed a homozygous mutation, Glu (GAG) to Gln (CAG) at residue 32 which normally undergoes gamma-carboxylation within the gamma-carboxyglutamic acid rich domain. The genotypes of family members completely correlated with their factor X activities. It is suggested that the Glu32 to Gln mutation is the molecular basis for the abnormal factor X in this family.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/93. Spontaneous epidural hematoma following a shunt in an infant with congenital factor x deficiency. Case report and literature review.The authors describe a case of an infant with congenital factor x deficiency. The patient presented with a central nervous system hemorrhage followed by hydrocephalus. He underwent a ventriculoperitoneal shunt and, during the postoperative period, developed a spontaneous epidural hematoma, which was evacuated. The clinical and pathophysiological aspects of this case are discussed based on a literature review.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/93. The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor x deficiency (Gla14Lys and Glu102Lys).Two homozygous point mutations were found in a patient with factor X (FX) deficiency; One results in substitution of Lys for Gla 14 and the second causes a Lys substitution for Glu102. The proposita has a severely reduced FX coagulant activity in the extrinsic (<1% of normal) and in the intrinsic (30% of normal) system of coagulation and after activation with Russel's viper venom (18% of normal). The FX antigen is reduced in this patient to 20% of normal. The substitution of Lys for Glu102 in FX deficiency has been reported previously in a heterozygous state in conjunction with a Lys for Gla 14 substitution and with a Pro for Ser334 substitution. The contribution of the Lys for Glu102 substitution in the observed combined FX defect in these patients was unclear. The mutation causing the Glu102Lys substitution was introduced by site directed mutagenesis into a wild-type FX cDNA, and recombinant protein was expressed in HEK 293 cells. Compared to the wild-type FX cDNA, the mutant construct had a 67% activity upon activation in the extrinsic system, 93% activity upon activation in the intrinsic system and 72% after activation with RVV. The data presented show that the substitution of Lys for Glu102 results in a minor functional defect of the FX molecule.- - - - - - - - - - ranking = 1.200164358653keywords = deficiency, protein (Clic here for more details about this article) |
4/93. Hemorrhagic lymphadenopathy as a presenting feature of primary al amyloidosis.Lymphadenopathy associated with hemorrhage as a presenting feature of primary (AL) amyloidosis has not previously been described. We report two such cases one of whom had an acquired factor X and IX deficiency. The clinical presentations were characterized by sudden spontaneous enlargement of lymph nodes followed by partial regression. In both cases significant delay in diagnosis, and hence treatment, occurred due to the mode of presentation. One patient died with rapidly progressive disease but the other has had an excellent response to therapy with high-dose melphalan (HDM, 200 mg/m2) and peripheral blood stem cell rescue. AL amyloid should be considered in all patients presenting with hemorrhagic lymphadenopathy.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
5/93. Prophylactic treatment of severe factor x deficiency with prothrombin complex concentrate.Factor X (FX) deficiency is an autosomal recessive trait that occurs in fewer than 1 in 500 000 people. Not surprisingly, reports of prophylactic treatment for FX deficiency are exceedingly rare. We now report our experience of the use of prophylactic therapy in a FX-deficient patient. This 18-year-old African-American male presented at the age of 4(1/2) years with an FX level < 1%. Treatment was on demand with prothrombin complex concentrates (PCCs) given at two times the dose per kilogram of body weight for factor ix. He experienced frequent epistaxis, soft tissue bleeding and joint bleeding. The development of a target joint (right ankle) prompted the initiation of prophylactic treatment in the beginning of 1998 to the present with 30 units kg(-1) Profilnine twice per week via a home infusion programme. If breakthrough bleeding occurred, he was instructed to infuse another dose. He was instructed that Profilnine should not be infused in more than two doses in 24 h or on more than three consecutive days. A trough level drawn 48 h post-infusion showed an FX level of 30%. In the initial 12 months with prophylactic treatment, there was no breakthrough bleeding. Subsequently, with an additional 11 months of follow-up, he has reported one bleed. He rates his quality of life improved since starting prophylactic treatment. There have been no thrombotic events. Prophylaxis with PCC for FX deficiency with adequate education and follow-up can be performed capably in the home setting with a resultant decrease in the frequency of bleeding and attendant complications.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
6/93. Recombinant human factor viia in the management of amyloid-associated factor x deficiency.factor x deficiency is an important complication of amyloidosis. It is associated with severe bleeding that is difficult to control with plasma or prothrombin complex concentrates. splenectomy ameliorates the factor x deficiency, but achieving satisfactory haemostasis for this operation is problematic. We report that a new clotting concentrate, recombinant factor viia, readily controls bleeding and makes splenectomy feasible.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
7/93. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy.BACKGROUND: Combined deficiency of vitamin k-dependent coagulation factors (II, VII, IX, X) is an uncommon challenge for the expectant gravida. CASE: A 34-year-old primigravida had congenital combined deficiency of factors II, VII, IX, and X that were incompletely sensitive to vitamin k. She had an altered form of vitamin k-dependent factors that retained immunologic activity but lacked coagulant activity and the normal complement of gamma-carboxyglutamic acid residues. She required vitamin k supplementation throughout her life. After an uneventful pregnancy she had postpartum hemorrhage resulting from an episiotomy. Fresh frozen plasma was administered to achieve hemostasis. The remainder of her postpartum course was normal. CONCLUSION: Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin k and fresh frozen plasma.- - - - - - - - - - ranking = 2.2keywords = deficiency (Clic here for more details about this article) |
8/93. One missense mutation in the factor X gene causing factor x deficiency--factor X Kanazawa.We investigated the molecular basis of factor x deficiency in a Japanese patient whose factor X activity and antigen level were 45% and 50% of normal control values, respectively. All exons and intron/exon junctions of the factor X gene were studied using a strategy combining polymerase chain reaction (PCR) amplification and nonradioactive single-strand conformational polymorphism (SSCP) analysis. Exon 5, containing the dna fragment of the proband, showed aberrant migration by SSCP analysis. All exon-containing dna fragments amplified by PCR were sequenced, and it was revealed that the proband was a heterozygote for a G --> A substitution in exon 5 of the factor X gene of the proband. This mutation predicts an amino acid replacement of arginine (Arg) for glycine (Gly) at codon 114 in the second EGF-like domain.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/93. Successful treatment of an acquired haemorrhagic diathesis due to factor x deficiency with chemotherapy.A 70-yr-old woman presented with a severe haemorrhagic diathesis due to an acquired factor x deficiency. A plasma infusion study showed that exogenous factor X was eliminated very effectively from the patient's circulation. A bone marrow biopsy was consistent with plasma cell dyscrasia. Neither an abdominal fat biopsy nor the bone marrow biopsy confirmed an amyloidosis, although clinically no other diagnosis seemed possible. Treatment with intermittent chemotherapy, consisting of vincristine, cytoxan and prednisone, yielded definite clinical and laboratory improvement.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/93. danazol therapy in factor x deficiency.Factor X (FX) deficiency is a rare coagulation disorder that usually presents with bleeding manifestations and is treated with fresh frozen plasma or prothrombin complex concentrates. We report a case of FX deficiency in which the patient presented with bleeding as well as thrombosis. The patient responded to danazol and relapsed when the drug was stopped. The occurrence of thrombosis in FX deficiency and the role of danazol in coagulopathies are reviewed.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
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