Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The appearance of Factor VIII inhibitor in women after childbirth is a very rare occurence. However the hemorrhagic syndrome which results from such condition can be very serious and difficult to treat. In this paper a case of young women is described who developed after childbirth a severe bleeding disorder. Clinical feature was very similar to those seen in haemophilia. The patient was investigated in the local hospital but the diagnosis was not made. The bleeding disorder lasted with various extension for six months and patient finally developed a severe sublingual and laringeal bleeding. She was transfered to the Clinic "B" of Internal Medicine in a very serious condition. On examination there was marked prolongation of the clotting time and no detectable Factor VIII. On the basis of these findings and the clinical expression of bleeding disorders, the tentative diagnosis of Factor VIII inhibitor was made. The treatment was not possible to institute because the patient expired within hours. Autopsy showed that bleeding into deep laringeal tissue was the sole cause of her death. Additional examination of the of the patient's plasma specimen using the antibody assay (Biggs-Bidwell-1959) showed the presence of the antibody to the Factor Viii which were active in 1:100 dilution.
 ...
PMID:[Postpartum hemorrhage syndrome caused by factor VIII inhibitor in the blood]. 108 31

Factor VIII procoagulant activity (VIIIc), antigen (vWa), mobility of the antigen on two dimensional immunoelectrophoresis and platelet function were studied in 9 families with reduced ristocetin induced platelet aggregation rate (RIPA) and/or deficiency of plasma factor(s) required for ristocetin aggregation of washed normal platelets (vWf). the families could be subdivided into 4 groups. Group I showed dominant inheritance and reduced levels of VIIIc and vWa characteristic of typical von Willebrand's disease. All patients had reduced vWf and in 7 of 10 RIPA was reduced. Group II showed normal levels of VIIIc but reduced vWa. All showed reduced vWf but RIPA was reduced in one patient only. There was a good correlation between vWf and vWa and VIIIc in both groups. The bleeding time correlated with vWf in group I but not group II. Group III showed normal or nearly normal VIIIc and vWa but there was an increased mobility of vWa compared to normals and to groups I and II. RIPA was markedly reduced as was the vWf in one patient. Group IV is represented by one child with a strong family history of bleeding, who had reduced RIPA and defective platelet release reaction. The vWf in this child was normal and the ratio between VIIIc and vWa was similar to that seen in carriers of haemophilia. This spectrum of abnormalities of ristocetin aggregation justifies the use of the term 'von Willebrand's syndrome'.
 ...
PMID:Family studies of patients with reduced ristocetin aggregation and abnormalities of factor VIII and/or platelet function. 108 78

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA-->TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.
 ...
PMID:Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion. 136 83

Open and arthroscopic synovectomies of the knee in patients with classic hemophilia were evaluated with regard to effectiveness in reducing bleeding episodes, the effect on range of motion (ROM), and roentgenographic progression of hemophilic arthropathy. Eleven patients underwent 13 synovectomies (eight open, five arthroscopic). The average follow-up periods were 7.9 years and 2.2 years for the open and arthroscopic groups, respectively. Both procedures significantly reduced recurrent hemarthroses. Knee ROM in the open synovectomy group was decreased or unchanged in 75% and minimally increased in 25%, whereas there was an increased in 80% and a decrease in 20% of the knees in the arthroscopic group. Furthermore, 62.5% of the knees required manipulation to improve ROM in the open synovectomy group, versus 0% in the arthroscopic group. Hemophilic arthropathy progressed in most knees in both groups. The arthroscopic group had a longer operative procedure (122 versus 59 minutes), but required less hospitalization (9.4 versus 23.1 days) and 25.6% less Factor VIII replacement. Both techniques reduce hemarthroses. There is usually a net loss of ROM with the open versus a net gain with the arthroscopic procedure, and roentgenographic progression hemophilic arthropathy is slowed but not halted after synovectomy.
 ...
PMID:Open and arthroscopic synovectomy in hemophilic arthropathy of the knee. 139 45

The iliac hemophilic pseudotumor is a rare complication of hemophilia occurring in 1-2% of patients with Factor VIII or Factor IX deficiency. It is frequently disabling and life threatening. This report presents a comparative study of postoperative results of two cases of hemophilic pseudotumor of ilium. One patient undergoing partial resection showed a favorable postoperative course, whereas the patient with complete resection of the pseudotumor died of postoperative bleeding and sepsis. Studies on the postoperative results of these two cases indicate that careful preoperative consideration of tumor size and degree of infiltration is of the utmost importance in operative management. Early excision of tumors eliminates the possibility of endogenous infection. Even partial resection of huge tumors, leaving the lateral wall intact for compression, can promote recovery of functions.
 ...
PMID:Surgical excision of hemophilic pseudotumor of the ilium. 139 99

Between 1960 and 1991, 156 episodes of central nervous system (CNS) bleeding were documented in 106 patients from a total population of 1,410 hemophiliacs (7.5%). Ninety-one hemophilia A patients presented 131 bleeding episodes; 15 hemophilia B patients had 25 episodes. 32% of these episodes took place in patients less than 5 years of age. 46% were age 10 or less, and 72% were age 20 or less. The mean age was 14.8 years in hemophilia A and 9 years in hemophilia B patients. A significant increase in the mean age of hemophilia A patients has been observed over the last 10 years; this may be related to HIV infection. A history of recent trauma was documented in 39.7% of the episodes. Spontaneous CNS bleeding was predominant in severe hemophilia (85.2%). One hundred and fifty-four CNS bleeding episodes were intracranial and 2 intraspinal. Of the intracranial episodes, 37.7% were subarachnoid, 29.8 subdural, and 22.7% intracerebral. Factor VIII or IX inhibitors were present in 11.3% of the patients; this figure is slightly lower than that observed in our total hemophilic population. Over 50% of the patients had psychoneurological sequelae; the most frequent were seizure disorders and motor impairment. The overall mortality rate was 29.2%. The mortality was more closely related to the CNS bleeding site than to the severity of hemophilia. Treatment should be based on prompt and prolonged replacement therapy to ensure hemostatic levels of antihemophilia factors.
 ...
PMID:Update of 156 episodes of central nervous system bleeding in hemophiliacs. 147 37

In plasma, Factor VIII is bound to its carrier protein, von Willebrand Factor (vWF). Therefore, the levels of these two factors vary together. From studies in the general population, in patients with coronary heart disease and in hemophilia patients, an association between Factor VIII levels and coronary heart disease clearly emerges.
 ...
PMID:Factor VIII and coronary heart disease. 150 56

Factor VIII, the plasma protein deficient in hemophilia A, is a crucial cofactor for regulation of hemostasis. Our understanding of factor VIII increased tremendously once it became possible to isolate homogeneous preparations of this protein from plasma. In addition, the isolation of the factor VIII gene has provided new means of exploring the structure and function of factor VIII. This increasing knowledge also sheds light on the genetic alterations resulting in hemophilia as well as in thrombophilia. This chapter summarizes our current understanding of the regulation of factor VIII function and raises questions to be answered in the years to come.
 ...
PMID:Biological regulation of factor VIII activity. 158 May 93

Recent reports have suggested a possible association between HIV-1 infection and primary pulmonary hypertension (PPH), but most of the patients described to date have either had acquired immunodeficiency syndrome (AIDS) with concurrent lung infections or have administered Factor VIII intravenously for hemophilia. We report three human immunodeficiency virus type 1 (HIV-1)-positive homosexual white males with clinical and hemodynamic diagnoses of PPH. None of the patients had any opportunistic lung infections or other pulmonary pathology, nor were they hemophiliacs. They had no histories of intravenous drug use. Lung tissue from two of the patients revealed hypertensive arteriopathy consistent with PPH and no other pulmonary pathology. Attempts at localizing HIV-1 infection to the vascular endothelium with electron microscopy, immunohistochemistry, DNA in situ hybridization, and polymerase chain reaction techniques did not reveal direct pulmonary artery infection with the virus. These data and the finding of tubuloreticular structures on electron microscopy suggest that HIV-1 may play a role in the pathogenesis of these cases of PPH through mediator release associated with HIV-1 infection rather than by direct endothelial infection.
 ...
PMID:Primary pulmonary hypertension in association with human immunodeficiency virus infection. A possible viral etiology for some forms of hypertensive pulmonary arteriopathy. 158 65

The essential role of Factor VIII:C (FVIII:C, anti-hemophilia factor A) as a cofactor for Factor IXa-dependent activation of Factor X has been established. In this paper, we describe that capillary endothelial cells from bovine adrenal medulla express active FVIII:C gene. Accumulation of FVIII:C in conditioned media from an 8-day-old culture is approximately twice as high as that stored in the cell when immunoprecipitated FVIII:C was analyzed for its ability to convert Factor X to Factor Xa. Analysis of [35S]methionine-labeled and immunoprecipitated FVIII:C from cells or conditioned media on SDS-PAGE under fully denatured conditions indicated that the newly synthesized FVIII:C consists of heavy chain of M(r) 200,000 and light chain of M(r) 46,000. The secreted FVIII:C in the non-reduced condition however, has a molecular weight of 270,000 which suggests that in native protein, the heavy and light chains are held together by S-S bonds. Furthermore, susceptibility of the immunoprecipitated FVIII:C to N-glycanase digestion establishes that the endothelial cells derived FVIII:C contains asparagine-linked carbohydrate side chains.
 ...
PMID:Expression of blood clotting factor VIII:C gene in capillary endothelial cells. 162 40


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>