1/11. Expanding portal haematomata as a complication of knee arthroscopies in persons with haemophilia.Recurrent haemarthroses stimulate the hypertrophy of synovial tissues that if left in situ will eventually cause joint destruction. Synovectomies have been the cornerstone of joint preservation and a number of different methods exist. We report two patients who suffered complications after an arthroscopic procedure. No previous complications of this nature have been reported in the literature.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/11. Gray scale ultrasound: evaluation of iliopsoas hematomas in hemophiliacs.Because of its insidious nature, intramuscular bleeding, in contrast to hemarthrosis, is missed or belatedly recognized in hemophiliacs. Sixteen patients with suspected iliopsoas bleeding were studied by gray scale ultrasonography. In 12 patients it was possible to confirm the diagnosis of iliopsoas hematoma because of enlargement and rounding of the psoas muscle.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/11. Acquired factor viii autoantibody: four cases demonstrating the heterogenous nature of this condition and problems involved in diagnosis and treatment.The development of an autoantibody to human factor viii is rare and presents many problems for diagnosis and treatment. We have seen several cases at our institution recently with widely heterogenous clinical and laboratory presentations. A wide range of treatment modalities were used in these cases with no gold standard of treatment or widely accepted guidelines existing. This has prompted us to examine all cases of this condition presenting at Fremantle Hospital over the last decade. We describe four cases which demonstrate the heterogeneity of this condition and its treatment and review the recent literature on the subject.- - - - - - - - - - ranking = 4keywords = nature (Clic here for more details about this article) |
4/11. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor viii binding and multimerization.Von Willebrand disease type Normandy (VWD 2N) is caused by mutations at the factor viii (FVIII) binding site of VWF, located at the amino-terminus of mature VWF. It is inherited in a recessive fashion and both homozygous and compound heterozygous mutations have been identified. Homozygous mutations are correlated with a clinical phenotype indistinguishable from mild hemophilia a by conventional laboratory tests, whereas compound heterozygosity with a quantitative defect may appear as VWD type 1 (VWD1). We have now identified and expressed a novel heterozygous mutation (Y795C) which is responsible for both, a defective FVIII-binding and aberrant multimers in a female patient with mild FVIII deficiency. Additionally we expressed another mutation (E787K), previously identified by us in a male patient with a severe 'pseudohemophilic' phenotype. Analysis of the FVIII binding and the multimer structure of the respective recombinant VWF mutants reproduced the observed phenotype: the FVIII binding defect in addition to the aberrant multimer structure of the patient with Y795C and the FVIII binding defect only, in the patient with E787K. Our results demonstrate the causative nature of the two mutations and emphasize the impact of 'cysteine mutations' on the multimer structure of VWF.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/11. Neuropsychological deficit in haemophiliacs with human immunodeficiency virus.Neuropsychological impairment is widely accepted as being common in acquired immunodeficiency syndrome (AIDS) but infrequent in asymptomatic human immunodeficiency virus (hiv)-infected individuals. The neuropsychological function of a homogenous sample of hiv-infected haemophiliacs was investigated. Neuropsychological impairment, the nature of which is compatible with that described in the existing literature, was found in one of four AIDS cases. Eleven AIDS related complex (ARC) and 12 asymptomatic hiv-infected individuals were free of neuropsychological deficit.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/11. A complete deletion of the factor ix gene and new TaqI variant in a hemophilia b kindred.We report a hemophilia b kindred in which the proband has a complete deletion of the factor ix gene extending a minimum of 80 kilobase pairs (kb) 3' of the gene. This individual has severe factor ix deficiency with no detectable circulating factor ix protein. In common with one previous report, despite a total deletion of the factor ix gene, this patient has not developed antibodies to factor ix. The mother of the proband was found to have a new TaqI variant of the factor ix gene on the nondeletion-bearing x chromosome. The location of the altered TaqI site was found to be 5' of exon IV between residues 9731-9734 and does not affect the function of the factor ix protein. The familial natures of both the variant allele and the deletion were established. In addition a study of this kindred at the DXS99 locus demonstrated the first reported recombination event between this site and the factor ix gene.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/11. Use of human factor viia in the treatment of two hemophilia a patients with high-titer inhibitors.Two patients with hemophilia a complicated with high-titer alloantibodies have been treated by repeated infusions of microgram quantities of pure human factor viia. Patient 1 was presented with a gastrocnemius muscle bleeding that involved the knee joint. Upon treatment with factor viia the circumference of the muscle decreased and joint mobility increased substantially. Patient 2 was given Factor VIIa concurrent with tranexamic acid in association with the extraction of two primary molars. No significant gingival bleeding occurred after factor viia and tranexamic acid treatment. Furthermore, no deleterious side effects or increase of the alloantibody level were observed in either patient throughout the factor viia infusion. These results, although limited and preliminary in nature, suggest that trace quantities of factor viia can act as a factor viii bypassing activity and restore hemostasis in these patients.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/11. Spontaneous intra-abdominal hemorrhage in hemophilia.Intra-abdominal hemorrhage in patients with hemophilia is uncommon but represents a major cause of death in hemophiliacs. The manifestations are protean and may mimic other intra-abdominal processes. We present seven episodes of hemophilic intra-abdominal hemorrhage in which the initial diagnoses were incorrect in five of the seven cases. The mean time from seeking medical assistance to correct diagnoses was two days (range, zero to five days). Computed tomography proved useful, particularly when the diagnosis was uncertain or needed to be differentiated from other possibilities, such as aneurysm, tumor, or abscess. Delay in diagnosis and diagnostic and therapeutic misadventures can be minimized only by a knowledge of the nature of such hemorrhage.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/11. Lingual hemorrhage in a patient with hemophilia a complicated by a high titer inhibitor. Management by continuous infusion of monoclonal antibody-purified factor viii.PURPOSE: The management of oral bleeding in hemophilia a patients with high titer inhibitors can be challenging. Simultaneous administration of activated prothrombin complex concentrates and antifibrinolytic agents is potentially dangerous because both agents have thrombogenic properties. We report sustained control of life-threatening lingual hemorrhage in a hemophilic patient with a high titer inhibitor (100 Bethesda Units/ml) on continuous infusion of a monoclonal antibody-purified factor viii concentrate (75 U/kg/h). methods AND RESULTS: In vivo hemostasis was achieved without an initial increment in free plasma factor viii:C. The biphasic nature of recovered factor viii:C indicated initial antigen-antibody formation, a saturation point, then a rapid rise of free factor viii in plasma. in vitro, rapid loss of factor viii activity was noted in mixtures of patient's plasma and purified factor viii during incubation at 37 degrees C. When an excess of purified factor viii was added to patient's plasma, a plateau of stable residual factor viii activity followed the initial loss of factor viii activity, suggesting a second-order reaction. CONCLUSION: This type I kinetic response is typical of alloantibodies induced by exposure to factor viii concentrates.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/11. Severe hemophilia a in a female by cryptic translocation: order and orientation of factor viii within Xq28.We report studies of a female with severe hemophilia a resulting from a complex de novo translocation of chromosomes X and 17 (46,X,t(X;17)). Somatic cell hybrids containing the normal X, the der(X), or the der(17) were analyzed for coagulation factor viii (F8C) sequences using Southern blots and polymerase chain reaction. The normal X, always late replicating, contains a normal F8C gene, whereas the der(X) has no F8C sequences. The der(17) chromosome containing Xq24-Xq28 carries a functional G6PD locus and a deleted F8C allele that lacks exons 1-15. Also, it lacks the DXYS64-X locus, situated between the F8C locus and the Xq telomere. These results indicate that a cryptic breakpoint within Xq28 deleted the 5' end of F8C, but left the more proximal G6PD locus intact on the der(17) chromosome. As the deleted segment includes the 5' half of F8C as well as the subtelomeric DXYS64 locus, F8C must be oriented on the chromosome with its 5' region closest to the telomere. Therefore, the order of these loci is Xcen-G6PD-3'F8C-5'F8C-DXYS64-Xqtel. The analysis of somatic cell hybrids has elucidated the true nature of the F8C mutation in the proband, revealing a more complex rearrangement (three chromosomes involved) than that expected from cytogenetic analysis, chromosome painting, and Southern blots. A 900-kb segment within Xq28 has been translocated to another autosome. hemophilia a in this heterozygous female is due to the decapitation of the F8C gene on the der(17) and inactivation of the intact allele on the normal X.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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