1/12. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.Severe hyperhomocysteinemia due to cystathionine beta-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, approximately 50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. These patients, who displayed no other known thrombophilic predisposition, had suffered single or multiple venous thrombosis before CBS deficiency was diagnosed relatively late in life. In this family, homozygosity for the 833T-->C mutation was associated with a mild phenotype with respect to other sequelae of CBS deficiency. Consequently, our results indicate that most cases with this genotype may remain undiagnosed. Investigated family members heterozygous for the 833T-->C mutation displayed normal total homocysteine in plasma (tHcy) levels, even when they were homozygous for the methylenetetrahydrofolate reductase 677C-->T polymorphism. The prevalence of homozygosity for the 833T-->C mutation has previously been estimated at no less than 1:20 500 in our population. Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
2/12. Giant coronary aneurysms with multiple vascular aneurysms: a rare manifestation of hyperhomocysteinemia.hyperhomocysteinemia is associated with accelerated atherosclerosis, which leads to an increased incidence of premature vascular disease. Although multiple vascular aneurysms have been linked to hyperhomocysteinemia, coronary artery aneurysms have not. We report a case of giant coronary artery aneurysm associated with multiple peripheral vascular aneurysms in a patient with hyperhomocysteinemia.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
3/12. Emergent cardiovascular risk factor: homocysteine.Homocysteine is an independent, modifiable risk factor for cardiovascular disease. It is an intermediate amino acid formed during the metabolism of methionine. plasma homocysteine is normally < or = 12 micromol/L, but when elevated has many deleterious cardiovascular effects. This review explains homocysteine metabolism, the effects of elevated homocysteine, factors contributing to high homocysteine, and its measurement. risk factors for elevated homocysteine and intervention with B vitamins are discussed. Cardiovascular nurses are encouraged to facilitate homocysteine awareness through a variety of educational means.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
4/12. stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.BACKGROUND: Although hyperhomocyst(e)inemia (Hyper-Hcy) may predispose to atherosclerosis and venous thrombosis, the mechanisms of stroke associated with Hyper-Hcy are not defined. methods: Clinical and biochemical phenotypes and genetic features of three unrelated patients with premature stroke and severe Hyper-Hcy due to cystathionine beta-synthase (CBS) deficiency are described. plasma Hcy and amino acids were measured by fluorescence polarization immune assay and ion exchange chromatography. Analysis of the CBS and methylenetetrahydrofolate reductase genes was performed by restriction enzyme digestion and sequence analysis. RESULTS: Two of the three index cases had no known diagnosis of homocystinuria and initially presented with embolic cerebral and retinal infarction in mid-adulthood. Mechanisms of cerebrovascular disease were carotid intraluminal thrombosis, arterial dissection, and possible cardiac embolism. family screening revealed additional members with clinically silent homocystinuria and severe Hyper-Hcy. Excluding tall stature in two individuals, all had mild phenotypes, without classic findings of CBS deficiency. plasma total and free Hcy, methionine, and urine Hcy were elevated. Genotyping revealed heterozygous CBS mutations (I278T, D444N, G307S) in affected individuals. CONCLUSION: Artery-to-artery embolism and dissection may cause stroke in young adults with homocystinuria. The results also support a rationale for screening for Hyper-Hcy in young adults with stroke without a phenotype suggestive of classic homocystinuria.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
5/12. Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis.hyperhomocysteinemia is known to be associated with arterial occlusive vascular disease and venous thrombosis. Here we report a young ethnic Omani patient with recurrent venous thrombosis who was found to be heterozygous for the C677T mutation in the enzyme methyltetrahydrofolate reductase (MTHFR). Moderate hyperhomocysteinemia was also documented in the presence of normal red cell folate and serum B12 levels. No other marker usually associated with hereditary thrombophilia could be demonstrated in the patient, despite extensive investigations on multiple occasions.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
6/12. Risk-factor profile in severe, generalized, obliterating vascular disease.A 74-year-old woman had a history over 25 years of endarterectomy of both renal arteries, iliac venous thrombosis, pulmonary embolism, left internal carotid artery endarterectomy, coronary angioplasty, aortocoronary bypass grafting, occlusion of the right axillary artery, lower-limb claudication due to common iliac artery aneurysm, external iliac artery stenosis, multiple femoral artery stenoses, bifurcational stent grafting, occlusion of the left brachial artery and the right external iliac artery, and stroke. Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence of the factor v Leiden mutation, the methylenetetrahydrofolate reductase AI298C mutation, the HFE C282Y mutation, plasminogen activator inhibitor-1 gene mutation, the -455 G/A fibrinogen gene polymorphism, the epsilon3/epsilon4 apolipoprotein E -675 4G gene polymorphism, and hyperhomocysteinemia. This case shows that severe, generalized, occlusive vascular disease may be due to the combination of various genetic risk factors for atherosclerosis and venous thromboembolism.- - - - - - - - - - ranking = 5keywords = vascular disease (Clic here for more details about this article) |
7/12. Mutations of the MTHFR gene (428C>T and [458G>T 459C>T]) markedly decrease MTHFR enzyme activity.Methylenetetrahydrofolate reductase (MTHFR) is the only route for the synthesis of 5-methyltetrahydrofolate, which is utilized to convert homocysteine to methionine. In this study, we measured the enzyme activity of a mutant MTHFR that was detected in a patient with hyperhomocysteinemia. The 428C>T mutation in exon 2 of the MTHFR gene is a novel mutation, while the [458G>T 459C>T] mutation in exon 2 is a previously reported mutation. The activity of mutant enzymes containing the 428C>T, [458G>T 459C>T] and 677C>T mutations was 12.7 /-4.7%, 48.1 /-18.8%, and 43.6 /-14.4%, respectively, of that of the wild type enzyme. Our results suggest that these two variants each result in a severe MTHFR deficiency, which causes a developmental delay and cerebral vascular disease.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
8/12. Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis.hyperhomocysteinemia is known to be associated with arterial occlusive vascular disease and venous thrombosis. Here, we report a young ethnic Omani patient with recurrent venous thrombosis who was found to be heterozygous for 677C-T mutation in the methyltetrahydrofolate reductase (MTHFR) enzyme. Moderate hyperhomocystenemia was also observed, in the presence of normal red cell folate and serum B12 levels. No other documented marker of hereditary thrombophilia could be demonstrated in this patient, in spite of extensive investigation on multiple occasions.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
9/12. Vascular risk management through nurse-led self-management programs.In current clinical practice, adequate cardiovascular risk reduction is difficult to achieve. Treatment is primarily focused on clinical vascular disease and not on long-term risk reduction. Pertinent to success in vascular risk reduction are proper medication use, weight control, healthy food choices, smoking cessation, and physical exercise. Atherosclerotic vascular disease and its risk constitute a chronic condition, which poses specific requirements on affected patients and caregivers who should be aware of the chronicity. In patients with vascular disease, there is lack of awareness of their chronic condition because of the invisibility of most risk factors. In other patient groups with chronic illness, self-management programs were successful in achieving behavioral change. This strategy can also be useful for patients with vascular disease to adapt and adhere to an improved lifestyle. Self-management refers to the individual's ability to manage both physical and psychosocial consequences including lifestyle changes inherent to living with a chronic condition. Interventions that promote self-management are based on enhancing self-efficacy. In self-management, attention can be given to what is important and motivational to the individual patient. In this article the challenge of nursing care promoting self-management for patients with vascular risk and how this care can be applied will be explained. nurses can play a central role in vascular risk management with a self-management approach for patients with chronic vascular disease. In vascular prevention clinics, nursing care can be delivered that includes medical treatment of vascular risks (hypertension, hypercholesterolemia, hyperglycemia, and hyperhomocystinemia) and counseling on promoting self-management (changes in diet, body weight, smoking habits, and level of exercise). Nursing interventions based on self-management promotion can provide a new and promising approach to actually achieve vascular risk reduction.- - - - - - - - - - ranking = 5keywords = vascular disease (Clic here for more details about this article) |
10/12. hypothyroidism and cerebral infarction: a case report and literature review.Thyroid hormone has been studied in cardiovascular disease but rarely in cerebrovascular disease (CVD). Recently, hypothyroidism has been suggested to be related to risk factors such as atherosclerosis but not directly to CVD. We reported a 52-year-old woman with acute ischemic stroke, and greatly improved general conditions after thyroid hormone replacement. hypothyroidism is reported to be one of the causes of hypertension or elevated cholesterol levels, the established risk factors of CVD. Further studies of the possible association of thyroid hormone and CVD are warranted. Thyroid hormone might need to be surveyed in CVD patients especially if there are symptoms and signs of thyroid disorders.- - - - - - - - - - ranking = 2keywords = vascular disease (Clic here for more details about this article) |
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