Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

By means of existing literature, the author presents a survey of the present considerations regarding deep venous thrombosis. The second part deals with the author's own experience with 20 patients treated surgically by him for deep venous thrombosis of the lower limbs. His results prove to be excellent with just over 1/2 and satisfactory to excellent with almost 3/4 of the patients (Acta chir. belg., 1977, 76, 567-574).
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PMID:[Surgical management of acute deep thrombosis]. 59 91

The initial and long-term results of transcatheter electrical ablation in 29 patients with drug-refractory supraventricular tachyarrhythmias were analyzed. Ablation was immediately successful (defined as induction of chronic complete heart block) in 25 patients (86.2%). Among the group in whom ablation was unsuccessful, there were more patients with ectopic atrial tachycardia and a higher incidence of narrow QRS escape rhythm following the initial ablation. A His amplitude equal to or greater than 0.3 mV was correlated with success. Complications of ablation included deep venous thrombosis and ventricular arrhythmias. Post-ablation stress testing was superior to ambulatory monitoring in identifying early return of atrioventricular conduction.
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PMID:Transcatheter electrical AV junction ablation: predictors of success. 189 52

We describe two families with heterozygous plasminogen deficiency. In the first the patient was a 27 year-old female who suffered an acute episode of ischemic cerebrovascular disease affecting the left temporal lobe documented by arteriographic, gammagraphic and CAT studies. She had no family history of thrombotic conditions. In the other family the propositus was a 31 year-old man with spontaneous deep venous thrombosis in the left leg. His father was also symptomatic, with a history of recurrent thrombotic complications after predisposing factors, that included multiple venous thrombosis and a pulmonary embolism. Laboratory data showed normal hemostasis test results. Antigenic and functional levels of protein C, protein S and antithrombin III were within normal limits. The only abnormality found was decreased plasminogen activity in plasma; antigenic and functional levels were reduced to about half-normal levels. In both cases crossed immunoelectrophoresis revealed a normal migration pattern of plasminogen. Thus, we conclude that our patients were carriers of congenital hypoplasminogenemia or familial type I plasminogen deficiency, due to decreased synthesis. We also reported on fibrinolytic response to infusion of DDAVP, a synthetic analogue of the antidiuretic hormone. Fibrinolytic activity was normal in basal conditions as well as in response to DDAVP infusion.
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PMID:[Plasminogen deficiencies in 2 Spanish families. Response to the administration of DDAVP]. 236 94

The author sets forth an assessment of the practical usefulness of the currently available noninvasive laboratory tests in the diagnosis and management of peripheral deep vein thrombosis and chronic venous insufficiency. His standards of evaluation are defined in terms of his personal experience and suggest that these tests, in the setting under discussion, have a value largely limited to patient screening.
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PMID:Is the vascular laboratory necessary in the management of venous disease? 395 Oct 32

This paper reports the case of an adult patient with severe protein C(PC) deficiency. She had the first deep vein thrombosis when she was 14 years old and developed skin necrosis when oral anticoagulant treatment was started. The same sequence of thrombotic complications recurred several times. Analysis of the PC gene coding sequences allowed two mutations (Arg-1 to His and Arg 178 to Gln) to be identified in this compound heterozygote. Oral anticoagulant treatment during PC concentrate infusion and low-molecular-weight heparin administration was successful and uncomplicated.
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PMID:Protein C infusion in a patient with inherited protein C deficiency caused by two missense mutations: Arg 178 to Gln and Arg-1 to His. 779 52

Abnormal antithrombin III (AT III) was found in a 30-year-old woman who suffered from recurrent thrombosis during pregnancy and the postpartum period. Among her family members, only her father had recurrent episodes of deep vein thrombosis of the lower extremities, from his youth. The antithrombin and antifactor Xa heparin cofactor activities of the proposita's plasma were 61% and 42% of normal, respectively. The progressive antithrombin and antifactor Xa activities were also decreased to 55% and 58% of normal, respectively. The immunoreactive level of AT III was within the normal range (23.1 mg/dl). Analysis of the proposita's plasma by crossed immunoelectrophoresis in the presence or absence of heparin and by affinity chromatography on heparin-Sepharose revealed that the proposita's AT III had apparently normal affinity for heparin. Nucleotide sequencing of 7 exons of the proposita's AT III gene amplified by polymerase chain reaction (PCR) disclosed that the second base of codon 393 comprised both G and A, indicating Arg393-His conversion. The base sequences of exons 1, 2, 3a, 3b, 4, and 5 were normal, excluding any other mutation. These findings indicated that the proposita's AT III was a variant of AT III at the thrombin binding site and that the proposita was a heterozygote for the abnormality. Heparin affinity of purified abnormal AT III from the proposita's plasma was demonstrated to be increased upon affinity chromatography using heparin-Sepharose, suggesting that the mutation (Arg393-His) per se could possibly increase the affinity of antithrombin III for heparin. For this variant AT III (Arg393-His), the name AT III Kumamoto II is proposed.
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PMID:Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. 783 87

Radiofrequency catheter ablation has become the treatment of choice for paroxysmal supraventricular tachycardia involving dual atrioventricular nodes or an accessory pathway. For reentry confined to the atrium where the arrhythmia itself or the ventricular response cannot be controlled with drugs, catheter ablation of the His bundle is a treatment option, but requires implantation of a permanent pacemaker and does not restore normal rhythm. In the atria, important anatomic obstacles, such as the great veins and the ostium of the coronary sinus, interrupt the normal arrangement of myocardial fibers. Under certain circumstances these natural obstacles, or those created during atrial surgery for congenital heart disease, may help to facilitate conditions for reentrant excitation within the atrium. The purpose of this study was to evaluate the safety and efficacy of radiofrequency ablation directed at a protected isthmus of slow conduction in patients with reentrant atrial tachycardia or flutter. Eighteen patients with drug-refractory atrial arrhythmias underwent invasive electrophysiology testing, followed in the same session by ablation using radiofrequency energy delivered between the large distal electrode of a deflectable catheter and a skin patch. In eight patients, intracardiac echocardiographic imaging was performed to compliment fluoroscopy. These 18 patients had a total of 20 atrial tachyarrhythmias: atypical atrial flutter (1 patient), typical atrial flutter (13), intraatrial reentrant tachycardia (5), and sinus node reentry (1). There were 5 women and 13 men with an age range of 8 to 81 years. Structural heart disease was present in 10 of 14 patients with atrial flutter, and 4 patients with intraatrial reentrant tachycardias had surgery for congenital heart disease. Acute success was achieved in 12 of 13 cases (92%) of typical atrial flutter and in 6 of 6 cases of other atrial reentrant tachyarrhythmias, including sinus node reentry and five arrhythmias associated with congenital heart disease surgery. One patient developed a deep venous thrombosis. Radiofrequency catheter ablation, by severing narrow corridors of slow conduction, can safely abolish reentrant atrial arrhythmias in humans. Long-term follow-up evaluation will be required since these patients generally have atrial disease and recurrence of the ablated arrhythmia or the emergence of new arrhythmias is a possibility.
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PMID:Curing reentrant atrial arrhythmias. Targeting protected zones of slow conduction by catheter ablation. 818 24

Heterozygosity for a G-->C mutation converting the highly conserved Gln184 (CAG) to His (CAC) was identified at the last nucleotide of exon 7 of the protein C gene in two family members with deep vein thrombosis. As the nucleotide is a part of the 5 splice site of intron G, it was examined how the mutation affected splicing of protein C pre-mRNA. Relevant protein C cDNA fragments were amplified with polymerase chain reaction after reverse transcription of ectopic mRNA from peripheral blood lymphocytes. Southern blot analysis and nucleotide sequencing of these fragments showed a fragment (A) corresponding to correctly spliced mRNA originating from the normal allele and a fragment (B) corresponding to a truncated mRNA lacking exon 7, originating from the mutant allele. A third fragment (C) lacking exons 7 and 8 was identified in both affected and unaffected family members, as well as in normal controls. Analysis of human liver protein C mRNA indicated that the ectopic lymphocyte mRNA was qualitatively representative for the tissue-specific mRNA. In conclusion, evidence is provided showing that the mutation abolishes formation of correctly spliced mRNA. This agrees with the observation that the mutation results in a type 1 protein C deficiency.
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PMID:Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. 840 Feb 92

The presence of point mutation G-->A of nucleotide 1691 of Factor V gene (Leiden mutation) is responsible for the resistance of factor Va to activated protein C (APC-resistance) and is associated with an increased risk for thrombosis. Herein, we reported on a case of 20 year male with a two years history of recurrent, extensive deep vein thrombosis. His family history showed grand-mother from mother side, who died from thromboembolic disease many years ago. His laboratory investigation reveals abnormal results of APC-resistance test (R = 1.80) and normalized APC-resistance test sensitivity ratio (0.57). Moreover, on the basis of a sequence specific primer polymerase chain reaction (SSP-PCR) a heterozygous from (G/A at 1691 position) of Leiden mutation was found. Family study showed two between 8 others asymptomatic persons with abnormal results of APC-resistance test and heterozygous genotype.
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PMID:[Point mutation G-->A nucleotide 1691 factor V gene as a cause of developing thrombotic complications in a family with plasma resistance to activated protein C]. 884 15

Azathioprine is a drug commonly used for the treatment of inflammatory bowel disease, organ transplantation and various autoimmune diseases. Hepatotoxicity is a rare, but important complication of this drug. The cases reported to date can be grouped into three syndromes: hypersensitivity; idiosyncratic cholestatic reaction; and presumed endothelial cell injury with resultant raised portal pressures, venoocclusive disease or peliosis hepatis. The components of azathioprine, 6-mercaptopurine and the imidazole group, may play different roles in the pathogenesis of hepatotoxicity. The strong association with male sex, and perhaps with human leukocyte antigen type, suggests a genetic predisposition of unknown type. Many of the symptoms of hepatotoxicity, such as nausea, abdominal pain and diarrhea, can be nonspecific and can be confused with a flare-up of inflammatory bowel disease. As well, the subtype resulting in portal hypertension can occur without biochemical abnormalities. A 63-year-old man with Crohn's disease who is presented developed the rare idiosyncratic form of azathioprine hepatotoxicity, but also had a severe disabling steroid myopathy, peripheral neuropathy, resultant deep venous thrombosis and pulmonary embolism related to immobility, and a nosocomial pneumonia. His jaundice and liver enzyme levels improved markedly on withdrawal of the drug, returning to almost normal in five weeks. Treating inflammatory bowel disease effectively while trying to limit iatrogenic disease is a continuous struggle. Understanding the risks of treatment is the first important step. There must be a low threshold for obtaining liver function tests, especially in men, and alertness to the need to discontinue the drug or perform a liver biopsy should patients on azathioprine develop liver biochemical abnormalities, unexplained hepatomegaly or signs of portal hypertension.
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PMID:Cholestatic hepatocellular injury with azathioprine: a case report and review of the mechanisms of hepatotoxicity. 981 67


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