Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The resistance to activated protein C (APC-resistance) based on the presence of factor V Leiden (F V Leiden) is the most frequent thrombophilic condition in the white race population. It contributes to the origin of thrombosis especially in the venous part of blood vessels. Significant geographic differences have been detected within Europe. The aim of this retrospective study was to determine the frequency in the occurrence of F V Leiden: 1. in healthy (asymptomatic) Slovak population, 2. in their consanguineously unrelated members with thrombosis and 3. in patients with myocardial infarction (IM) without or with other known risk factors of this disease (nicotinism, obesity, hypertension, dyslipoproteinemia, diabetes mellitus), respectively. The detection of FV Leiden was made by molecular biology methods. The occurrence in a group of 152 healthy individuals was four % (6 persons) and this frequency corresponds to the geographic localization of the Slovak Republic in Europe. In a group of 349 patients with thrombosis in anamnesis, FV Leiden was detected in 103 persons (29.5%). The occurrence was higher than the usually reported incidence in these patients (20%). Likewise, in a group of 35 patients with IM without risk factors in anamnesis, the occurrence of FV Leiden (8.6%) was significantly higher in comparison with healthy population and the incidence further increased significantly in a group of 41 patients with IM and the presence of at least one risk factor (14.6%). The authors therefore suppose an active role of the Leiden mutation of FV gene in the pathogenesis of this disease.
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PMID:[Factor V Leiden and the Slovak population]. 1468 80

Resistance to activated protein C (APC) is a condition that leads to a hypercoagulative state with an increased risk for venous thrombosis. The aim of this study was to test the functionality of the protein C system in normal and complicated pregnancies and APC resistance. A total of 131 patients were tested, including pregnant women with normal and complicated pregnancies at different periods, e.g. from weeks 1 to 20, 21 to 30 and 31 to 38 of gestation. The following hemostatic parameters were determined: protein S, protein C, protein C Global and protein C APC sensitivity. Commercial "Behring" tests were used to determine the parameters of hemostasis. The values for protein C activity were within normal limits. Protein S values were below the lower limits. Significantly lower PC-NR (protein C normalized ratio) and APC-NR (activated protein C normalized ratio) values were found in all three of the gestation periods in pregnant women with a history of repeated miscarriages and hypertension in relation to pregnant women with normal pregnancies. In order to assess the diagnostic accuracy of investigated hemostatic parameters as markers of prethrombotic changes in pregnant women, the obtained values of investigated hemostatic parameters were evaluated by ROC analysis. PC-NR and APC-NR showed satisfactory diagnostic accuracy as markers of prethrombotic changes in pregnant women: more precisely, they were found to be good indicators of resistance to activated protein C in pregnancy.
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PMID:Changes in the plasma levels of protein C system parameters in pregnancy. 1474 57

Portal vein thrombosis (PVT) is the most frequent cause of hypertension portal extrahepatic. It is a rare disorder an the main risk factors are cirrhosis, hepatobiliary malignancies and prothrombotic disorders, which have been identified as major risk. Therapy with anticoagulants must to be considered in acute portal thrombosis or chronic one and proven hypercoagulability. We present the case of a twenty-nine years old patient, with extrahepatic portal hypertension secondary to portal and splenic vein thrombosis, who was diagnosed because of splenomegaly and a coagulation disorder. A protein C deficiency were discovered and anticoagulation and beta-blocker therapy were initiated. One year later the patient had not presented complications concerning to the disease or to the treatment.
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PMID:[Extrahepatic portal hypertension: spleno-portal thrombosis secondary to protein C deficiency]. 1475 3

The present study was designed to evaluate prothrombotic risk profiles in 59 consecutively recruited white neonates with renal venous thrombosis (RVT). The rates of prothrombotic risk factors (PRs)-for example, the factor V (FV) 1691G> A mutation, the factor II (FII) 20210G> A variant, antithrombin (AT), protein C (PC), protein S (PS), elevated lipoprotein(a) (Lp(a)), total fasting plasma homocysteine (tHcy) levels, and anticardiolipin antibodies (ACAs)-were compared with those of 118 healthy control children. At onset, 32 (54.2%) of the 59 neonates showed underlying clinical conditions; 40 (67.8%) of them and 23 (85.2%) of the 27 infants with idiopathic RVT showed at least one PR. Univariate analysis revealed significantly elevated odds ratios/95% confidence intervals (ORs/95% CIs) for FV and Lp(a). Additionally, PC/AT deficiency and ACAs were found significantly more often in the patient group (P =.04). Multivariate analysis calculated significant ORs/95% CIs only for FV (OR, 9.4; 95% CI, 3.3-26.6) and elevated Lp(a) (OR, 7.6; 95% CI, 2.4-23.8). Of the 59 neonates investigated, 53 revealed renal atrophy, and 13 children additionally suffered from severe arterial hypertension. In conclusion, the present study demonstrates the significance of genetic PR-especially the FV mutation and elevated Lp(a)-for the etiology of neonatal RVT.
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PMID:Renal venous thrombosis in neonates: prothrombotic risk factors and long-term follow-up. 1515 75

Background: Stroke mainly affects the older population, although it has also been reported in younger patients. In this study, we focused on patients 65 years of age or younger with stroke. Methods: The files of three patient populations were studied: 93 patients aged 65 years or younger with stroke (group A), 93 patients older than 65 with stroke (group B), and 604 patients without stroke representing the general population of patients admitted to our service during January 2000 (group C). We reviewed the patient files and compared patient characteristics, epidemiological features, clinical picture,imaging findings, and coagulation tests. Results: Overall, 318 patients were studied. The mean age of group A was 55 years compared to 77 years in group B and 71 years in group C. In both stroke groups (A and B), the male: female ratio was 2:1, in contrast with a balanced ratio in group C. Most of the patients in group A (63%) were of Sephardic origin compared to 39% in group B (P=0.002) and 30% in group C. The clinical picture in both stroke groups (A and B) was similar. The risk factor smoking was reported by 45% in group A and by only 29% in group B (P=0.034). Hypertension, diabetes mellitus, and hyperlipidemia were evenly prevalent in both stroke groups. The coagulation system was studied in the "young" patients (group A): hyperhomocysteinemia was found in 37%, high titers of anticardiolipin antibodies in 35%, low levels of antithrombin III in 13%, protein C deficiency in 5%, and activated protein C resistance (APCR) in 4%. Overall, 49% of the patients from group A were found to have coagulation abnormalities. Conclusions: We found in our study that the younger patient with stroke tends to be a Sephardic male with the classical risk factors as well as a history of smoking and coagulopathy. These findings suggest strict medical supervision and primary prophylaxis. This work also lays the basis for a prospective, interventional trial with younger patients.
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PMID:Clinical and ethnic characteristics of stroke in an Israeli population: a study in a community hospital population. 1524 19

In acute hypotension, an automated drug infusion system to control mean arterial blood pressure (MAP) has not been previously studied, though many investigations have examined the use of vasodilating drugs to control MAP in postoperative hypertension. Therefore, we examined an automated control of MAP during acute hypotension using a neural network (NN) approach. A proportional-integral-derivative (PID) control, an adaptive predictive control using a NN (APC(NN)), a combined control of APC(NN) and PID (APC(NN-PID)), a fuzzy control, and a model predictive control were tested in computer simulation based on the MAP response to norepinephrine (NE) of 25 microg ml(-1). In six anesthetized rabbits, using the NE of 25 microg ml(-1), the PID control, APC(NN), and APC(NN-PID) prevented severe hypotension compared to an uncontrolled condition. Under PID control, four of the six animals showed MAP oscillation. Using NE of 50 microg ml(-1), the rabbits recovered from acute hypotension for all systems tested but showed sustained MAP oscillation during PID control. In conclusion, utilization of a NN for adaptive predictive control systems could facilitate the development of an automated drug infusion apparatus because it provides robust control even when acute or large perturbations and inter-individual differences in the sensitivity to therapeutic agents occur.
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PMID:Adaptive predictive control of arterial blood pressure based on a neural network during acute hypotension. 1553 55

Although antiphospholipid antibodies (aPL) are associated with thrombosis, it is not known who with aPL is at higher risk for thrombosis. It was the aim of this cross-sectional study to investigate how thrombophilic factors contribute to venous or arterial thrombosis in aPL-positive individuals. In outpatient test centres at two tertiary care hospitals, two hundred and eight (208) persons requiring aPL testing were matched by age, gender and centre to 208 persons requiring a complete blood count. Persons were classified as aPL-positive (having anticardiolipin, lupus anticoagulant and/or anti-beta(2)-glycoprotein I antibodies) or aPL-negative. Several thrombophilic factors were studied using logistic regression modelling. Results showed that the aPL-positive group had three-fold more events (37%) than the aPL-negative group (12%). In unadjusted analyses, clinically important associations were observed between factor V Leiden and venous thrombosis, hyperhomocysteinemia and arterial thrombosis, and activated protein C resistance (APCR) and venous thrombosis (OR, 95% CI = 4.00, 1.35-11.91; 4.79, 2.03-11.33; and 2.03, 1.03-3.97, respectively). After adjusting for recruitment group, persons with both APCR and aPL had a three-fold greater risk (OR, 95% CI = 3.31, 1.30-8.41) for venous thrombosis than those with neither APCR nor aPL. Similarly, after adjusting for hypertension, family history of cardiovascular disease, gender and recruitment group, persons with both hyperhomocysteinemia and aPL had a five-fold increased risk (OR, 95% CI = 4.90, 1.37-17.37) for arterial thrombosis compared to those with neither risk factor. In conclusion, APCR phenotype and hyperhomocysteinemia are associated with a higher risk of venous and arterial thrombosis, respectively, in the presence of aPL.
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PMID:Antiphospholipid antibodies and thrombosis: association with acquired activated protein C resistance in venous thrombosis and with hyperhomocysteinemia in arterial thrombosis. 1558 39

Previous studies have shown an increased risk of retinal vein occlusion (RVO) in patients with hypertension, hypercholesterolemia and diabetes mellitus. Literature on the association between thrombophilic factors and RVO consists of small studies and case reports. The objective was to determine the relationship between thrombophilic risk factors and RVO. Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant. For all currently known thrombophilic risk factors odds ratios for RVO were calculated as estimates of relative risk. The odds ratios were 8.9 (95% CI 5.7 - 13.7) for hyperhomocysteinemia, 3.9 (95% CI 2.3 - 6.7) for anticardiolipin antibodies, 1.2 (95% CI 0.9 - 1.6) for MTHFR, 1.5 (95% CI 1.0 - 2.2) for factor V Leiden mutation and 1.6 (95% CI 0.8 - 3.2) for prothrombin gene mutation. In conclusion, regarding thrombophilic risk factors and RVO there is only evidence for an association with hyperhomocysteinemia and anticardiolipin antibodies, factors that are known as risk factors for venous thrombosis as well as for arterial vascular disease. The minor effect of factor V Leiden mutation and the protrombin gene mutation (risk factors for venous thrombosis only) suggests that atherosclerosis might be an important factor in the development of CRVO.
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PMID:Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors. 1596 81

Benign idiopathic intracranial hypertension (BIH) in association with prothrombotic conditions has been reported with increasing frequency in the medical literature. Recently, activated protein C resistance (APCR) has been identified as a factor in some cases. Because of its high prevalence, factor V Leiden mutation (FVL) is the most frequent coagulation abnormality associated with cerebral venous thrombosis. Reduced craniospinal fluid reabsorption due to damaged arachnoid villi secondary to microthrombus formation has been proposed as an explanation for the physiopathology of BIH and FVL. We describe two patients with a diagnosis of BIH, in whom the only risk factor was heterozygosity for FVL mutation.
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PMID:[Benign intracranial hypertension and heterozygosity for factor V Leiden mutation]. 1604 79

Retinal vein occlusion (RVO) is a multifactorial disease involving vessel damage, stasis, viscosity and thrombosis. Conflicting findings on hereditary thrombophilic risk factors have been reported and their impact on RVO features remains to be defined. The aim of the present study was to evaluate the prevalence of hereditary thrombophilic risk factors (HTRF) and characteristics of RVO in patients with or without HTRF. The design of the study was a prospective, observational case series. Two hundred and thirty-four patients with RVO were included consecutively. A French healthy population of the same region was studied as control group. The HTRF studied were protein C (PC), protein S (PS) and antithrombin (AT) deficiencies, factor V Leiden (FVL) and factor II 20210A polymorphisms. Chi-Square was used for comparison with the healthy subjects and between RVO patient with and without HTRF according to localisation (branch vs. central), type of RVO (ischemic or non-ischemic), recurrence, age at first event and classical vascular risk factors. Twenty-two patients had HTRF (12 FV Leiden heterozygotes, 9 FII 20210A heterozygotes and 1 PS deficiency). No AT or PC deficiency was detected. Frequencies of PS deficiency, FVL and FII 20210A allele were similar to the reference population as well as to published data in the general caucasian population. Eighty-six patients experienced their first episode before the age of 60 years. Systemic hypertension, glaucoma and angina were significantly less frequent in patients with RVO before 60 years. Fourteen of the 22 patients with one HTRF (64%) experienced their first episode of RVO before the age of 60 years compared to 72 of 212 without HTRF (34%) (p = 0.006). Heterozygote status for FV Leiden was significantly more frequent in patients who had experienced their first episode of RVO before 60 years (p = 0.027). In conclusion, this study suggests a role of FV Leiden in the occurrence of RVO in patients younger than 60 years who exhibit fewer acquired vascular risk factors than in older patients.
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PMID:Increased prevalence of factor V Leiden in patients with retinal vein occlusion and under 60 years of age. 1611 92


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