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Biomedical subjects

R Marcucci

Publications and source records attributed to R Marcucci.

46 records · Page 3Linked to original sources

The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD).

Mild hyperhomocysteinemia was found to be related to venous thrombosis, cerebrovascular and coronary artery disease (CAD). Some recent studies suggested that a mutation in the gene encoding for 5-10 methylenetetrahydrofolate reductase (MTHFR), due to a transition C-->T at nucleotide 677, is a genetic risk factor for vascular disease. However, several further studies could not confirm this association. We investigated 84 patients with CAD who underwent percutaneous transluminal coronary angioplasty (PTCA) and 106 healthy subjects. The prevalence of the mutated homozygous genotype was much higher than in other Italian populations, Europeans or other major human groups, but no excess of the Val/Val homozygotes was found in patients (28.5%) with respect to healthy subjects (30.2%). Mutated homozygous MTHFR genotype (+/+) was not found to be related to the clinical manifestations of CAD, to the prevalence of the common risk factors and to the rate of restenosis. In conclusion, thermolabile MTHFR does not appear to be associated "per se" with the risk for CAD or for restenosis after PTCA. The high frequency of the +/+ genotype in our Italian population (from Tuscany) confirms a wide macroheterogeneity and suggests a microheterogeneity in the genotype frequencies of the different ethnic populations.

Adult↗

Venous thromboembolism in renal transplant recipients: high rate of recurrence.

Few data are available on the incidence of venous thromboembolism occurring in renal transplant recipients and optimal duration of oral anticoagulant therapy after thrombotic episode. Our study was performed to evaluate the risk of thrombosis recurrence in patients developing a first episode. Among 484 renal transplant patients 34 (7%) developed a first thromboembolism and were referred to the Thrombosis Centre: 28 patients (group 1) were prospectively studied, after stopping anticoagulants. Group 1 was compared with a group of 84 patients without an history of renal disease who had suffered from a first thrombotic episode and were matched for age, sex, and type of thrombotic event (group 2). During follow-up, 14/28 group 1 patients and 8/84 group 2 patients experienced thrombotic recurrence (P = .0001). Our data outline the high risk of recurrence in renal transplant recipients. Strategies for recurrence prevention are needed taking into account the high bleeding risk of anticoagulants in renal transplant patients.

Adult↗

Homocysteine-lowering therapy and carotid intima-media thickness in renal transplant recipients.

The aim of this study was to document, in hyperhomocysteinemic renal transplant recipients, the effect of vitamin supplementation on carotid intima-media thickness (cIMT). Fifty-six hyperhomocysteinemic stable renal transplant recipients were randomly assigned to either vitamin supplementation (group A) or placebo treatment (group B). All patients underwent high-resolution B mode ultrasound to measure IMT of common carotid arteries before and after 6 months of vitamin supplementation. In group A, cIMT significantly decreased after treatment, whereas no significant changes were observed in group B. In conclusion, our results demonstrate a beneficial effect of the treatment of hyperhomocysteinemia by vitamin supplementation on an early sign of atherosclerosis in a group of renal transplant recipients.

Carotid Arteries↗

[Retinal vein occlusions: diseases for the internist?].

Retinal vein occlusion is a relatively common disease, usually associated with the presence of diseases related to internal medicine. Central retinal vein occlusion is the most frequently-occurring and clinically relevant type. In addition to the well-known classic risk factors, new hemostasis-related ones have been investigated in patients affected by central retinal vein occlusion. While data concerning a number of parameters remain contradictory, high levels of type 1 plasminogen activator inhibitor (PAI-1) and lipoprotein(a) and hyper-homocystinemia appear to play a significant role in the pathogenesis of this disease. Although based on a limited number of studies, this new knowledge could eventually provide important indications regarding prognosis and therapeutic strategies.

Hemostasis↗

Activated protein C resistance is a risk factor for central retinal vein occlusion.

Central retinal vein occlusion is one of the most common retinal vascular disorders. Few and contrasting data are available on the prevalence of hemostatic risk factors in patients with central retinal vein occlusion. The aim of this study was to investigate the most common hemostasis-related inherited risk factors for venous thrombosis in a group of 53 central retinal vein occlusion patients (median age 59 years, range 18-77 years) and in 53 comparable control subjects (median age 57 years, range 22-84 years). No difference was found in antithrombin III, protein C and protein S plasma levels between patients and controls. At univariate analysis, activated protein C resistance (odds ratio 5.8) and factor V Leiden (odds ratio 4.4) were significantly associated with central retinal vein occlusion whereas G20210A polymorphism of the prothrombin gene was not. After adjustment for sex, age, and the other classic vascular risk factors (hypertension, diabetes, hypercholesterolemia, smoking) activated protein C resistance remained the only independent risk factor for central retinal vein occlusion (odds ratio 11.5). These data indicate that activated protein C resistance may play a role in the pathophysiology of central retinal vein occlusion.

Activated Protein C Resistance↗

[D-dimer in the year 2000: current data and new perspectives].

D-dimer is a product of cross-linked fibrin degradation by the fibrinolytic system. It has been shown to be highly sensitive and moderately specific for venous thromboembolic disease. Thus, the most common clinical use of D-dimer relates to its negative predictive value for deep vein thrombosis and pulmonary embolism. Diagnosis, however, should not be based solely on this parameter, and an integrated strategy that combines clinical approach (pre-test probability), a non-invasive test (ultrasonography or lung scan) and D-dimer assay is highly recommended. Over the last years a number of studies have demonstrated that D-dimer may also enable the prediction of the complications of atherothrombosis inasmuch as the data available suggest a significant association of D-dimer with the risk of coronary artery disease independent of classic risk factors. Moreover, elevated plasma D-dimer seems to be a marker of a systemic prothrombotic state, and anticoagulation can normalize its levels. However, further studies are needed to assess whether or not this parameters is of clinical value to predict or prevent arterial thrombotic events in the single patient.

Algorithms↗

Hyperhomocysteinemia in renal transplant patients: an independent factor of cardiovascular disease.

Hyperhomocysteinemia (Hcy) is an independent factor of cardiovascular disease, which is the main cause of morbidity and mortality both in uremic and kidney transplant patients. The aim of the study was to determine Hcy, plasminogen activator inhibitor (PAI-1) and lipoprotein (a) (Lp(a)) serum levels in 70 patients with a well functioning renal transplant. We also verified whether these levels were modified by a multivitamin therapy. The genetic polymorphism of the methylenetetrahydrofolate reductase (MTHFR) enzyme which plays a main role in Hcy metabolism, was studied as well. We found Hcy, PAI-1 and Lp(a) levels significantly elevated with respect to healthy control subjects. The thermolabile form of the MTHFR enzyme was linked to higher Hcy levels. After a short time on therapy with B6, B12 and folic acid vitamins, Hcy and PAI-1 decreased to normal levels. The authors conclude that high Hcy levels could be a relevant covariate for cardiovascular disease in transplant patients and they suggest that vitamin supplementation be recommended as a part of therapy.

Cardiovascular Diseases↗

[Hormone replacement therapy and cardiovascular pathology in menopause].

Although the incidence of vascular disease increases progressively with age, the increment observed in women between 50 and 60 years old does not seem to be directly correlated to the menopause. On the other hand, significant modifications of some risk factors, particularly those related to lipid metabolism and the hemostatic system have been observed in postmenopausal women. It should be stressed that the results of these studies, although generally concordant, cannot be applied directly to the entire population: the majority of women studied were well-educated and from the upper-middle social and economic classes and thus more prone to comply with behavioral and therapeutic precepts. Moreover, non-white women were excluded from these studies. At present, numerous data attest to the beneficial effect of hormone replacement therapy on cardiovascular disease in postmenopausal women. The presently running National Institutes of Health 9-year randomized primary prevention study (Women's Health Initiative) and the secondary prevention "Heart Estrogen/Progestin Replacement Study" should, within a few years, provide further and, it is hoped, definitive information concerning the utility of hormone replacement therapy for the primary and secondary prevention of cardiovascular disease.

Aged↗