Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Antithrombin V as a pathological inhibitor of coagulation may occur in some rare cases as an accompanying symptom of various basic diseases. In the course of two years, antithrombin V could be identified in 8 patients, with plasmocytoma, lupus erythematodes visceralis, glomerulonephritis or colitis ulcerosa existing as basic diseases. Clinical findings in patients and those gained in analyzing coagulation, procedures of laboratory diagnostics for determining characteristic properties of antithrombin V as well as the therapeutic way of influencing the activity of antithrombin V are represented.
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PMID:[Antithrombin V--a rare concomitant symptom in plasmacytoma and autoimmune diseases]. 619 61

Previous studies on the prevalence of biological abnormalities causing venous thrombosis and the clinical characteristics of thrombotic patients are conflicting. We conducted a prospective study on 2.132 consecutive evaluable patients with venous thromboembolism to determine the prevalence of biological causes. Antithrombin, protein C, protein S, plasminogen and heparin cofactor-II deficiencies, dysfibrinogenemia, lupus anticoagulant and antiphospholipid antibodies were investigated. The risk of any of these alterations in patients with familial, recurrent, spontaneous or juvenile venous thrombosis was assessed. The overall prevalence of protein deficiencies was 12.85% (274/2,132) and antiphospholipid antibodies were found in 4.08% (87/2,132). Ten patients (0.47%) had antithrombin deficiency, 68 (3.19%) protein C deficiency, 155 (7.27%) protein S deficiency, 16 (0.75%) plasminogen deficiency, 8 (0.38%) heparin cofactor-II deficiency and 1 had dysfibrinogenemia. Combined deficiencies were found in 16 cases (0.75%). A protein deficiency was found in 69 of 303 (22.8%) patients with a family history of thrombosis and in 205/1,829 (11.2%) without a history (crude odds ratio 2.34, 95% CI 1.72-3.17); in 119/665 (17.9%) patients with thrombosis before the age of 45 and 153/1,425 (10.7%) after the age of 45 (crude odds ratio 1.81, 95% CI 1.40-2.35); in 103/616 (16.7%) with spontaneous thrombosis and in 171/1,516 (11.3%) with secondary thrombosis (crude odds ratio 1.58, 95% CI 1.21-2.06); in 68/358 (19.0%) with recurrent thrombosis and in 206/1,774 (11.6%) with a single episode (crude odds ratio 1.78, 95% CI 1.32-2.41). Patients with combined clinical factors had a higher risk of carrying some deficiency. Biological causes of venous thrombosis can be identified in 16.93% of unselected patients. Family history of thrombosis, juvenile, spontaneous and recurrent thrombosis are the main clinical factors which enhance the risk of a deficiency. Laboratory evaluation of thrombotic patients is advisable, especially if some of these clinical factors are present.
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PMID:Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study). 906 91

Patients with systemic lupus erythematosus (SLE) have an increased risk of thrombosis, related to the lupus anticoagulant or anticardiolipin antibodies (ACL). Antithrombin (AT), protein C (PC) and protein S are natural anticoagulants with a very important role in the regulation of coagulation and fibrinolysis, and in the prevention of thrombosis. Total protein S (TPS), free protein S (FPS), AT and PC were measured in 53 unselected patients with SLE in order to verify their relation with previous history of thrombosis or the presence of anticardiolipin antibodies (ACL). The influence of prednisone use on the concentration of these natural anticoagulants was also analysed. The control group was formed by 20 blood donors. The PC concentration was increased in patients with ACL, when compared to controls (p < 0.01), or patients without ACL (p = 0.01). FPS levels were decreased in patients with SLE in relation to controls (p = 0.01), but not related to thrombosis or ACL. There was no difference in plasmatic concentration of AT and TPS, between patients and controls. PC, AT and TPS were increased in patients under prednisone use (p < 0.01). There was no association between concentration of natural anticoagulants and a history of thrombosis. Although decreased FPS was found, or results suggest that it seems not to be a risk factor for thrombosis in SLE. Since PC and AT were not decreased, they should not be involved with thromboembolic complications in these patients. The use of prednisone can influence concentration of natural anticoagulants in patients with SLE.
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PMID:Antithrombin, protein S and protein C and antiphospholipid antibodies in systemic lupus erythematosus. 986 23

Thrombotic lesions are consistently observed in chronic thromboembolic pulmonary hypertension (CTEPH) and frequently found in primary pulmonary hypertension (PPH). It remains unknown, however, whether thrombosis is related to defects of the antithrombotic pathway or to previous vascular injury. This study therefore analysed the frequency of both hereditary and acquired thrombotic risk factors in CTEPH and PPH. One hundred and forty-seven consecutive patients with CTEPH investigated in the author's institution were compared to 99 consecutive patients with PPH. In 116 CTEPH patients and 83 PPH patients, phospholipid-dependent antibodies (antiphospholipid antibodies and lupus anticoagulant) were analysed by both immunological and clotting assays. In patients enrolled since 1994 (46 CTEPH and 64 PPH), hereditary thrombotic risk factors were also determined. Antithrombin, protein C and protein S activities were measured by functional assays. Mutations of factor V and factor II were identified by polymerase chain reaction. The prevalence of hereditary thrombotic risk factors was not increased in patients with either PPH or CTEPH. In contrast, a high frequency of phospholipid-dependent antibodies was observed in PPH (10%) and more notably in CTEPH (20%). Moreover, in PPH, antibodies were present only in low titre whereas in CTEPH, half of the patients with antiphospholipid antibodies had high titres. In addition, in CTEPH all but one of the patients with lupus anticoagulant also had antiphospholipid antibodies. The most striking finding of this study was the high prevalence of phospholipid-dependent antibodies but their clinical relevance appears to be different in primary pulmonary hypertension and chronic thromboembolic pulmonary hypertension. In primary pulmonary hypertension, these antibodies in low titre probably reflect endothelial dysfunction. In contrast, in chronic thromboembolic pulmonary hypertension the presence of antibodies in high titre associated with lupus anticoagulant, underlines the role of thrombosis in the pathogenesis of this condition.
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PMID:Thrombotic risk factors in pulmonary hypertension. 1093 6

The acute spinal cord infarction is a rare cause of acute-onset paraplegia. Furthermore, it is specially uncommon that the infarction occurs in patients with apparent low predisposition to vascular disease. The 20210A allele of the prothrombin gene (causing a threefold-increased risk in venous thromboembolism) was recently associated with unexplained spinal cord infarction in young women under treatment with estrogens (contraceptive pill). We report a case of anterior spinal artery syndrome resulting from an ischaemic infarction at the anterior aspect of the spinal cord in a healthy 50-year-old woman, carrying this mutation, being the first published case under treatment with transdermal estradiol. She referred the typical sudden-onset back pain associated to clinical anterior spinal artery syndrome with sphincter dysfunction and nontraumatic paraplegia. A possible multiple sclerosis was ruled out and the steroids or immunoglobulin therapy induced no clinical improvement. Cerebrospinal fluid and other investigations were all negative. Sequential MRI scans revealed development of spinal cord infarction from T10 to T11, with increased signal in T2-weighted image (T2). Because she referred a previous thrombophlebitis and suffered a deep-vein thrombosis one month after paraplegia, a complete coagulation study was performed. Antithrombin, proteins C and S, homocysteine, factor V Leiden, lupus anticoagulant and anticardiolipin antibodies were all normal or negatives. In opposite, the 20210A variation was positive (heterozygous) and the factor VIIIc level was very high (280 U/dl eight months later). We argue the relative importance of both findings. The patient had no a substantial recovery over a period of 20 months.Certainly, the prothrombin 20210A seems to be associated with unexplained ischemic myelopathy among the young women with estrogens.
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PMID:[Spinal cord infarction and recurrent venous thrombosis in association with estrogens and the 20210A allele of the prothrombin gene]. 1174 25

The pathogenesis and treatment of retinal vein occlusions (RVO) are largely unclear. Prevalence of cardiovascular risk factors and of thrombophilic abnormalities was evaluated in 117 patients (61 M, 56 F; mean age 51 +/- 13 years) with a history of RVO (62 central, CRVO; 48 branch, BRVO; 7 both) and in 202 age- and sex-matched control subjects. Cardiovascular outcome after a mean 8.2 year follow-up was recorded for 90 patients. Arterial hypertension was significantly more frequent in patients than in controls (64.9 vs. 28.2%; adjusted OR 4.5 95% CI 2.4-7.9; P < 0.0001), as well diabetes mellitus (17.9 vs. 7.9%; P < 0.05). Antithrombin, Protein C, Protein S and homocysteine levels, lupus anticoagulant, anticardiolipin antibodies, FV G1691A and prothrombin G20210A polymorphisms were comparable in the two groups, nor were different according to RVO localization or to the age at event. BRVO patients were significantly older (55 +/- 9 vs. 47 +/- 15 years; P = 0.002) and had higher prevalence of diabetes, overweight and hypertension (29.2 vs. 8.1%; 83.3 vs. 58.1%, 79.2 vs. 56.5%; P always <0.05). In 58/90 (64%) patients for whom clinical follow-up was available, new vascular events were recorded (coronary/cerebral, n = 38); only 22 patients (24%) received long-term antiplatelet agents (mostly aspirin 100 mg/d), with lower, but not statistically significant, prevalence of overall vascular recurrence (45.4 vs. 70.6%, P = 0.06). High rate of vascular recurrence is shown in patients with previous RVO, in which conventional cardiovascular risk factors play a major role, especially in BRVO and in older patients.
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PMID:Cardiovascular risk factors and outcome in patients with retinal vein occlusion. 1970 55

: Utility of coagulation analyzers in real-world settings depends on characteristics that are often not studied comprehensively. This study aimed to investigate the analytical performance, system functionality, practicability, consistency and throughput of two new automated coagulation analyzers in routine laboratory practice. Real-world settings were simulated in three major European hemostasis laboratories and multiple assays were performed in anonymized plasma samples in parallel with routine clinical practice on the cobas t 711 (high-throughput) and cobas t 511 (mid-throughput) analyzers using activated partial thromboplastin time (aPTT), aPTT Lupus, aPTT Screen, Antithrombin (AT), D-Dimer, Fibrinogen, Prothrombin Time (PT)-derived Fibrinogen, PT Owren, PT Rec (recombinant human thromboplastin reagent) and Thrombin Time assays. Precision was tested in a 21-day experiment and accuracy was compared with reference methods of the same laboratory. A number of experiments simulated challenging real-life situations. Pearson's correlation coefficient was more than 0.98 in all assays. Across assays, coefficients of variation ranged from 0.0 to 1.5% for intermediate precision; 0.2 to 3.0% for repeatability and 0.4 to 3.7% for total precision. Good between-run comparability was seen when testing samples under random conditions. Calculated maximum throughput was 197 and 387-402 tests/h for the cobas t 511 and 711 analyzers, respectively. Practicability met or exceeded user expectations in 98% of cases. In a simulated real-life setting of three major laboratories, the new cobas t 511 and cobas t 711 coagulation analyzers demonstrated a good functionality, practicability and performance and the throughput was high.
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PMID:System performance evaluation of the cobas t 711 and cobas t 511 coagulation analyzers in routine laboratory settings. 3282 93