Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A single basepair substitution at conserved position -1 in the exon 3a donor splice site of the liver-expressed antithrombin III (AT3) gene was detected by PCR/direct sequencing in a patient with sporadic type 1 ATIII deficiency and recurrent venous thrombosis. The lesion, a heterozygous silent AAG----AAA transition at Lys 176 occurred de novo in the proposita. Ectopic transcript analysis of lymphocyte mRNA demonstrated the presence of an abnormally sized mRNA specific to the patient which was shown by cDNA sequencing to lack exon 3a. Oligonucleotide discriminant hybridization demonstrated the absence of any detectable transcript of normal length derived from the disease allele. These findings demonstrate the utility of ectopic transcript analysis in the characterization of defects of mRNA splicing.
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PMID:De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. 150 75

A case of abdominal aortic aneurysm associated with preoperative signs of disseminated intravascular coagulation is reported. The 69-year-old female patient presented with spontaneously appearing petechiae and bruising. She had 0.95 g.l-1 fibrinogen, 105 G.l-1 platelets, and 100 micrograms.ml-1 fibrin and fibrinogen degradation products. Investigations revealed an 80 mm diameter aneurysm of the abdominal aorta, extending from the coeliac trunk to the iliac arteries. Heparin 7,000 IU.day-1 resulted in a biological improvement for a week only. At that time, levels of coagulation factors were: 92% factor II, 88% factor V, 100% factors VII and X, 100% antithrombin III. Surgical cure of the aneurysm was nevertheless carried out. Twenty standard units of platelets, 8 g fibrinogen, four units of fresh frozen plasma, five homologous and two autologous red cell units were transfused during the procedure. No coagulation factors were necessary during the postoperative course, which was uneventful. The management of coagulation factor infusions, before or after aortic cross-clamping, is discussed.
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PMID:[Aneurysm of the abdominal aorta and preoperative disseminated intravascular coagulation]. 205 33

To determine the factors which influence perioperative coagulative and fibrinolytic function, we studied 41 patients who underwent surgical repair of unruptured abdominal aortic aneurysm (AAA) and 30 patients who underwent arterial reconstruction for arteriosclerosis obliterans (ASO). In patients with AAA, the levels of fibrin/fibrinogen degradation products (FDP) (11.4 +/- 20.1 micrograms/ml), thrombin-antithrombin III complex (TAT) (22.0 +/- 21.8 micrograms/l), plasmin-alpha 2 plasmin inhibitor complex (PIC) (2.6 +/- 2.9 micrograms/ml) and d-dimer of cross-linked fibrin degradation products (D-D) (8.4 +/- 10.8 micrograms/ml) were elevated, particularly when the AAAs had a large mural thrombus surface area or were accompanied by aneurysm of the iliac or femoral artery. In arterial aneurysms, blood coagulability and secondary fibrinolytic activity were believed to be enhanced. In patients with ASO, the level of TAT (17.2 +/- 24.8 micrograms/l) was so elevated that they were considered to show chronic hypercoagulability. Among the ASO patients with aorto-iliac lesions, those with concomitant graft occlusion or anastomotic aneurysm had significantly elevated levels of TAT. Proximal arterial occlusion or accompanying aneurysm in the ASO patients was associated with increased levels of PIC and D-D. Postoperative fluctuations in conventional hematological variables did not differ significantly among the surgical procedures. Conventional markers showed a transient decrease due to consumption during surgery, and a subsequent recovery or an actual increase within several days after surgery.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Perioperative changes in coagulative and fibrinolytic function during surgical treatment of abdominal aortic aneurysm and arteriosclerosis obliterans. 773 53

We compared the efficacy of argatroban, a new synthetic thrombin-specific inhibitor, with that of heparin in pre-DIC state patients with abdominal aortic aneurysm (AAA). A pre-DIC state was diagnosed by a detection of soluble fibrin monomer complex (FM) and increased levels of thrombin-antithrombin III complex (TAT) of more than 20 ng/ml. Twelve patients showing a pre-DIC condition were treated with argatroban (40 mg/day, n = 6) or heparin (10,000 U/day, n = 6) for 5 days. Coagulation and fibrinolytic profiles were analyzed before and after drug administration. FM became negative in two (33%) patients after the argatroban treatment and in all (100%) of the heparin-treated patients. Plasma levels of TAT were significantly decreased after the heparin treatment, however, there was no significant alteration in this parameter after the argatroban treatment. In conclusion, the anticoagulant effects of heparin were superior to those of argatroban in controlling the pre-DIC state associated with AAA.
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PMID:Anticoagulant Effects of Argatroban on the Pre-DIC State in Patients with an Aortic Aneurysm: A Comparative Study of Heparin 958 57