Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.4.21.6 (thromboplastin)
13,278 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemophilia A affects male, whereas females are carriers and generally spared from this disease. However, we here reported a 65-year-old female with Hemophilia A while screening the gene mutation of coagulation factor VIII. The female went to hospital because of tripping to lead her right chest to be injured with subcutaneous hematoma. She had historically a hemorrhagic diathesis. The physical examination discovered her hip limited to bend and move, but no discrepancy length between her two legs. The initial laboratory tests showed that the activated partial thromboplastin time (APTT) was 61. 3 seconds (20-40 seconds), and the APTT corrected by mixing with normal plasma was 41.3 s, but the levels of PT, FIB and TT were normal. The plain radiographs revealed the hip joints to suffer from the acetabular dysplasia and osteoarthritis. The level of FVIII:C was 2%, F IX:C 200%, vWF:Ag 120%, vWF:Rcof 100%, vWF:CBA 128%, and the F VIII binding assay to vWF was normal. The primers for exon 14 of F VIII gene were designed according to the NM - 000132 gene sequence. DNA was abstracted from the patient blood. PCR were carried out and the DNA sequence was followed. A new mutation of 4111A-->C was discovered, which caused the amino acid sequence changed (T 1314 P). The mutation of T 1314 P may be the cause of this female patient to get the hemophilia A. This mutation was a novel one which has never been reported before.
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PMID:[Gene mutation analysis of coagulation factor VIII from a female patient with hemophilia A]. 1676 42

A 34-year-old man with Marfan syndrome was admitted to our hospital for surgical treatment of aortic regurgitation due to annuloaortic ectasia. He had no history of bleeding complications. Preoperative investigation revealed a slight prolongation of an activated partial thromboplastin time, which went unnoticed. He underwent aortic root replacement with a composite valve graft. During the operation, he had excessive bleeding due to coagulopathy after the termination of cardiopulmonary bypass, and needed a large amount of blood transfusion to obtain hemostasis. Before his discharge from our hospital, he was diagnosed as mild hemophilia A because of the decline in his factor VII level. To our knowledge, there has been no published case of cardiac operations in Marfan syndrome with hemophilia A.
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PMID:[Aortic root replacement in Marfan syndrome with hemophilia A]. 1678 62

Cryoprecipitate is still widely used to treat hemophilia A in developing countries. However, the yield of factor VIII is relatively low averaging, i.e. only 50%. We have attempted to enhance the yield by adding sodium citrate to the plasma following the method of Shanbrom and Owens (Blood 98, 2001, 60a). Fresh-frozen plasma (FFP) units were processed either as control plasma or after the addition of 10% sodium citrate. Cryoprecipitate was produced from both. After resuspension, calcium chloride was added to the citrated cryoprecipitate to correct for excess citrate prior to testing. The levels of FVIII and fibrinogen were determined in both preparations. The citrated cryoprecipitates had varying yields of fibrinogen and FVIII in the cryoprecipitate. The FVIII levels varied from 34% to 215% recovery. Fibrinogen ranged from 55.5% to 121.4%. We found that the addition of increasing amounts of CaCl2 to normal plasma raised the FVIII values from 1.0 to 4 U/ml. To determine the possibility of assay influence we added different quantities of CaCl2 to control plasma and measured the FVIII and activated partial thromboplastin time levels. Addition of citrate to plasma resulted in an increased total amount of cryoprecipitate much of which was citrate. Assays showed considerable ranges in the quantity of FVIII and fibrinogen. Activation of FVIII can be caused by addition of excess calcium.
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PMID:Cryoprecipitate production: the use of additives to enhance the yield. 1689 61

Patients with hemophilia A that developed inhibitors to FVIII represent a problem for bleeding control especially during surgical procedures. We report the use of bolus injections of rFVIIa during one intervention that included synoviectomy on the right knee, cholecystectomy and appendicectomy in a child with high titer of inhibitors to FVIII. rFVIIa was administered at the start (120 microg x kg(-1)) and then every 2 h (90 microg x kg(-1)) during the procedure. epsilon-aminocapronic acid was also administered as an antifibrinolytic every 3 h. We monitored aPTT (activated partial thromboplastin time) and PT (prothrombin time) and they were within reference values. Surgery lasted 7 h without significant hemorrhage. Postoperatively the dose of rFVIIa was slowly reduced and after ten days the patient was discharged home in good condition. In our case rFVIIa helped a child with hemophilia A with antibodies to undergo major surgery but each case should be treated individually and the cost of rFVIIa has also to be taken into account.
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PMID:The intraoperative use of recombinant FVIIa in child with hemophilia A with antibodies. 1759 24

Disorders of coagulation in children often prove challenging to the medical care team. The aims of this study were to assess the spectrum and prevalence of coagulation disorders among children attending Mansoura University Children Hospital (MUCH), Mansoura, Egypt. A total of 105 pediatric patients were referred to MUCH. They were divided into two groups: congenital coagulation disorders (75 cases, age 45.36 +/- 48.59 months), and acquired coagulation disorders (30 cases, age 56.13 +/- 61.61 months). All patients were subjected to thorough history taking including the nature of bleeding, family, past history, mode of inheritance, and detailed physical findings. Hemostatic tests included: platelet count, bleeding time (BT), prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT). Specific tests in the congenital group include assay of coagulation factors according to each disorder, Von Willebrand factor assay, ristocetin aggregation test, APTT mixing study for detection of inhibitors in complicated hemophilia cases, F VIII C to VWAg ratio with cut off 0.7 for detection of carriers in some hemophilia A families. Congenital disorders constituted 71.4% of the studied cases vs. 28.6% for acquired disorders. Hemophilia A (42.85%), hemophilia B (14.28%) and liver diseases (14.28%) represented the majority of the studied cases. Mild and moderate cases of hemophilia A and B are more frequent than severe cases in both types. Male sex is more frequent than female in the congenital group (94.7 vs. 5.3%, P < 0.001). Direct correlation existed between factor level assay and severity of hemophilia (r = 0.73, P = 0.006). Three mothers and one sister were identified as carrier out of four families. Anti-clotting factors inhibitor was detected in 18.2% of patients with hemophilia A and in 9.1% with hemophilia B. In conclusion, our study found that hemophilias are the most prevalent congenital coagulation disorders among children. Attention must be given for detection of hemophilia carriers and inhibitors of clotting factors.
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PMID:Coagulation disorders and inhibitors of coagulation in children from Mansoura, Egypt. 1765 57

Hemophilia A is a sex-linked hereditary disease, and the total number of patients with this condition is small. It is quite rare for general surgeons to encounter a patient with hemophilia A. Moreover, it is extremely rare for surgeons to encounter adult patients with undiagnosed hemophilia. We describe a patient in whom intra-abdominal bleeding persisted after open abdominal surgery, leading to a diagnosis of hemophilia A. The patient was a 55-year-old man with carcinoma of the papilla of Vater who underwent pancreatoduodenectomy, during and after which hemostatic difficulties were encountered. Our initial diagnosis was complex coagulopathy; however, transfusion of a large volume of fresh frozen plasma did not improve the activated partial thromboplastin time, which led us to suspect hemophilia. Thorough personal and family histories and determination of coagulation factor VIII showed that the patient belonged to a family with hemophilia A, which had not been recognized by his parents, leading to a diagnosis of mild hemophilia A based on decreased coagulation factor VIII levels. After diagnosis, intermittent administration of a coagulation factor VIII product controlled the bleeding. The patient is currently being treated on an outpatient basis and remains free of cancer recurrence.
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PMID:Mild hemophilia A diagnosed in a 55-year-old patient after pancreatoduodenectomy for carcinoma of the papilla of vater. 1796 33

A coagulopathy with subcutaneous bleeding and muscular or peritracheal/periesophageal bleeding occurred in two male Japanese Brown calves of the same dam. One of the affected calves died three days after the onset of bleeding and the other survived normally until being slaughtered despite once suffering from subcutaneous hematoma. Hemostatic tests of the latter case showed prolonged activated partial thromboplastin time (APTT), and severely reduced factor VIII activity. In addition, von Willebrand factor activity, determined by the human platelet aggregation test, was within the normal range; therefore, the calf was diagnosed with hemophilia A. These are the first bovine cases of hemophilia A definitely diagnosed clinicopathologically.
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PMID:Clinical and pathological aspects of hemophilia a in Japanese Brown cattle. 1838 31

The antihuman factor VIII (fVIII) C2 domain immune response in hemophilia A mice consists of antibodies that can be divided into 5 groups of structural epitopes and 2 groups of functional epitopes. Groups A, AB, and B consist of classical C2 antibodies that inhibit the binding of fVIII to phospholipid and von Willebrand factor. Groups BC and C contain nonclassical C2 antibodies that block the activation of fVIII by thrombin or factor Xa. Group BC antibodies are the most common and display high specific inhibitory activity and type II kinetics. The C2 epitope groups recognized by 26 polyclonal human anti-fVIII inhibitor plasmas were identified by a novel competition enzyme-linked immunosorbent assay using group-specific murine monoclonal antibodies. Most of the anti-C2 inhibitor plasmas inhibited the binding of both classical and nonclassical antibodies. These results suggest that nonclassical anti-C2 antibodies contribute significantly to the pathogenicity of fVIII inhibitors.
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PMID:Nonclassical anti-C2 domain antibodies are present in patients with factor VIII inhibitors. 1849 57

Hemophilia A is caused by a deficiency in the factor VIII (FVIII) gene. Constrained by limited packaging capacity, even the 4.3-kb B domain-deleted FVIII remained a challenge for delivery by a single adeno-associated viral (AAV) vector. Studies have shown that up to a 6.6-kb vector sequence may be packaged into AAV virions, which suggested an alternative strategy for hemophilia A gene therapy. To explore the usefulness of AAV vectors carrying an oversized FVIII gene, we constructed the AAV-FVIII vector under the control of a beta-actin promoter with a cytomegalovirus enhancer (CB) and a bovine growth hormone (bGH) poly(A) sequence. The CB promoter plus bGH signal was shown to be 3- to 5-fold more potent than the mini-transthyretin (TTR) promoter with a synthetic poly(A) sequence for directing FVIII expression in the liver. Despite the 5.75-kb genome size of pAAV-CB-FVIII, sufficient AAV vectors were produced for in vivo testing. Approximately 3- to 5-fold more FVIII secretion was observed in animals receiving AAV-CB-FVIII vectors than in those receiving standard-sized AAV-TTR-FVIII vectors. Both the activated partial thromboplastin time assay and the whole blood thromboelastographic analysis confirmed that AAV-FVIII vectors fully corrected the bleeding phenotype of hemophilia mice. These results suggest that AAV vectors with an oversized genome should be useful for not only hemophilia A gene therapy but also other diseases with large cDNA such as muscular dystrophy and cystic fibrosis.
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PMID:Complete correction of hemophilia A with adeno-associated viral vectors containing a full-size expression cassette. 1850 Sep 41

Acquired hemophilia A is defined as the development of factor VIII inhibitors in a nonhemophilic patient. The inhibitors can develop in association with autoimmune disease, allergic drug reactions [1,2], malignancies [2], and pregnancy [3]. It is rare, but frequently complicated by severe bleeding and compartment syndrome [1,4]. Therapeutic cupping is a traditional remedy done by applying heated cup over the back and limbs to cause congestion. This procedure is mostly used by South Asian and Middle Eastern countries. We report a 58-year-old woman who presented with extensive and compressive bruising which led to pending compartment syndrome of her left thigh in 2 days after cupping. The coagulopathy was first considered owing to new-onset severe deep tissue bleeding. Acquired hemophilia A was diagnosed with prolonged activated partial thromboplastin time (83 seconds) and incorrectable mixing plasma test. Quantitative assays revealed reduced level of factor VIII (b0.1%) and the presence of factor VIII inhibitors (20 BU) in the serum. Fresh frozen plasma transfusion, coagulation factor supply, and immunosuppressive therapy with steroid began immediately after diagnosis was made. Her activated partial thromboplastin time was gradually normalized. She was discharged home with improving symptoms and minimized bruises 1 week later. To our knowledge, acquired hemophilia A associated with therapeutic cupping has never been mentioned before in the literature.
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PMID:Acquired hemophilia A associated with therapeutic cupping. 1892 76


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