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)

Vigorous exercise is known to increase VIII:C and VIIIR:Ag levels transiently in normal individuals. Although exercise programs are frequently advocated in the management of hemophilia, the effects of exercise on coagulation parameters in these patients have not been well studied. Eleven hemophiliacs were exercised on a bicycle ergometer to maximum voluntary effort as evidenced by an increase in pulse, blood pressure, and plasma catecholamine (norepinephrine and epinephrine) levels. The effects of this exercise on coagulation parameters, including functional and antigenic components of the factor VIII molecule, were determined. The entire group demonstrated a decrease in mean prothrombin time (11.7 to 11.2 sec). Four mild hemophiliacs demonstrated an increase in mean VIII:C (14.5% to 17.3%), and VIII:CAg (12% to 17.8%). Changes in VIII:C and VIII:CAg were not noted in the seven severe hemophiliacs. Both severe and mild patients demonstrated significant changes in fibrinogen, factor II, and factor VII after exercise. This study indicates that submaximal exercise modifies coagulation parameters in patients with hemophilia.
 ...
PMID:Changes in coagulation parameters with exercise in patients with classic hemophilia. 642 36

Non-specific circulating inhibitors detected in 13 patients did not result in significant bleeding episodes. Five non-haemophiliacs who had inhibitors to Factor VIIIC did not have any underlying disorders but all of them experienced major bleeding episodes. Five per cent of haemophiliacs developed antibodies to Factor VIIIC. Most of them had severe haemophilia, but as the titres of antibody were low, they did not present with problems in management. Current modes of treatment for haemophiliacs with Factor VIIIC inhibitors include inducement of immune tolerance with high doses of Factor VIII, activated or non-activated prothrombin complex concentrate and plasmapheresis.
 ...
PMID:Circulating inhibitors. 644 Apr 69

The clinical manifestations of hemophilia depend upon both age and the severity of the factor VIII or IX deficiency. Hemophilia A and B cannot be differentiated on clinical grounds. Laboratory tests include platelet count, prothrombin time, partial thromboplastin time, and bleeding time.
 ...
PMID:Hemophilia. 677 Mar 24

The therapeutic efficacy of prothrombin-complex concentrates in patients with hemophilia and inhibitors (antibodies) to factor VIII has been increasingly debated. We therefore entered 51 hemophiliacs with factor VIII inhibitors into a double-blind randomized crossover study to compare two commercial prothrombin-complex concentrates (Konyne and Proplex) and an albumin placebo. Acute hemarthrosis of the elbow, knee, or ankle was treated with a single dose of a test preparation and assessed six hours later with objective and subjective criteria. In all measurements the concentrates were significantly more effective than the placebo. The data indicate that although prothrombin-complex concentrates, when used in a single dose, are only partially effective in the treatment of joint hemorrhage in hemophiliacs with inhibitors, their continued use for acute hemarthrosis is justified in the absence of any other effective and readily available therapy for this disorder.
 ...
PMID:Efficacy of prothrombin-complex concentrates in hemophiliacs with antibodies to factor VIII: a multicenter therapeutic trial. 677 53

Fourteen individuals with severe hemophilia complicated by factor VIII inhibitors (1 to 132 Bethesda Units) were treated for 33 bleeding episodes with a new activated prothrombin complex concentrate, Anti-Inhibitor Coagulant Complex (Autoplex, Hyland, Glendale, Calif.). Excellent or good results were observed in 21 of 25 minor bleeding episodes treated, which included joint, soft tissue, and mucous membrane hemorrhages. Eight major bleeding problems (an epidural bleed, a puncture wound, 2 serious soft tissue hemorrhages, 2 lacerations, and 2 major surgical procedures) were treated with excellent (6) or good (2) results. No serious complications were encountered, but two children developed transient hypofibrinogenemia following Autoplex infusion. Although some shortening of the prothrombin time and activated partial thromboplastin time was noted after infusion of Autoplex, there is no useful laboratory test for monitoring therapy. Despite the unknown mechanism of action for bypassing factor VIII, Autoplex appears to be a useful and needed interim product and is safe and effective. In view of the possible potentiation of thrombosis concurrent use of fibrinolytic inhibitors should be avoided.
 ...
PMID:Anti-inhibitor Coagulant Complex (Autoplex) for treatment of factor VIII inhibitors in hemophilia. 677 2

The abdominal hemophilic pseudotumor is a rare but frequently disabling and life-threatening complication in patients with severe hemophilia. Our patients were observed for a considerable period of time to document progressive enlargement of the pseudotumor and increasing disability from severe pain, nerve compression, or leg swelling. The decision to operate was made on the basis of incapacitating symptomatology or fear of impending rupture. Although the complications resulting from operation may be major, with the current availability of large amounts of factor VIII and activated prothrombin complex concentrate, excision of this lesion can be performed without concern for the hazard of uncontrollable hemorrhage. Late recurrence of the pseudotumor may necessitate further operative management.
 ...
PMID:Management of abdominal hemophilic pseudotumor. 679 32

Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a possible variant of haemophilia B Leyden, earlier described in a few families with moderately severe disease. No haemophilia BM variants, characterized by prolonged prothrombin time with bovine brain thromboplastin, were found. We have shown earlier that the immunoradiometric assay of f.IX was useful in the prenatal evaluation of one fetus at risk for haemophilia B. The present study shows that the assay can be applied for prenatal diagnostic purposes in the vast majority of carriers of severe haemophilia B and in about half of the carriers of moderately severe disease.
 ...
PMID:Genetic variants of haemophilia B detected by immunoradiometric assay: implications for prenatal diagnosis. 706 80

Factor IX Deventer was isolated from the plasma of a patient with severe hemophilia B. The patient was classified as BM because of an abnormal prolongation (2.1 times) of the ox-brain prothrombin time, that could be corrected by addition of antifactor IX serum. Experiments with the isolated factor IX Deventer showed that one of the two peptide bonds involved in the proteolytic activation of factor IX cannot be cleaved by physiological or non-physiological activators (XIa and RVV-X, respectively). Such a defect can explain why the molecule has no procoagulant activity. At present it is not clear why this defect makes factor IX Deventer such an effective inhibitor of the ox-brain prothrombin time. It is proposed that hemophilia BM is a heterogeneous disorder.
 ...
PMID:Factor IX Deventer-evidence for the heterogeneity of hemophilia BM. 710 Dec 32

An abnormal blood coagulation factor IX has been isolated from the blood of a hemophilia B patient with a variant of the disease (hemophilia Bm) characterized by a normal concentration of factor IX antigen, negligible factor IX coagulant activity, and a prolonged prothrombin time with bovine tissue factor. The isolated protein (factor IXBm) had the same apparent molecular weight as normal factor IX (55,000) and the same mobility on two dimensional immunoelectrophoresis as normal factor IX. Factor IXBm underwent limited proteolysis induced by activated factor XI, in the presence of Ca2+ ions, or induced by the reaction product of tissue factor, factor VII and Ca2+ ions. A timecourse study showed that activated factor XI cleaved factor IXBm and factor IX at similar rates. However, in contrast to normal factor IX, the limited protelysis of factor IXBm did not generate procoagulant activity. In kinetic experiments purified factor IXBm behaved like a competitive inhibitor (Ki of 0.017 muM) of the activation of factor X by bovine tissue factor and factor VII. Normal factor IX was also found to inhibit the reaction but required a four-fold higher concentration to activate the same inhibitory effects as factor IXBm.
 ...
PMID:Purification and properties of an abnormal blood coagulation factor IX (factor IXBm)/kinetics of its inhibition of factor X activation by factor VII and bovine tissue factor. 724 26

We have previously demonstrated that neutralization of factor IX in normal plasma by heterologous antisera shortens the one stage prothrombin time determined with bovine thromboplastin. In this study, a similar effect of homologous antibodies was demonstrated. Addition of plasma from two patients with hemophilia B- and an acquired inhibitor to factor IX gave a shortening of the prothrombin time of plasma from normal persons, compared to the prothrombin time determined after addition of control plasma from a patient with hemophilia B- and no inhibitor. Addition of inhibitor plasma had a similar effect on the prothrombin time of plasma from four patients with hemophilia B+ and one patient with hemophilia BM, but had no effect on the prothrombin time of plasma from ten patients with hemophilia B-. Complexes between factor IX and the human inhibitor could be demonstrated both before and after the coagulation with bovine thromboplastin. These complexes were demonstrated as a factor IX antigen with a reduced electrophoretic mobility in crossed immunoelectrophoresis against a rabbit antiserum to factor IX. The results demonstrate that normal factor IX loses the ability to act as an inhibitor in the coagulation with bovine thromboplastin after having formed a soluble complex with a homologous antibody, although the factor IX molecules still have antigenic determinants which are free to react with the rabbit antibodies.
 ...
PMID:Factor IX alloantibodies shorten the bovine thromboplastin coagulation time of normal human plasma. 733 Aug 18


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