Mutation in beta-fibrinogen gene (C148T) is important risk factor in patients affected by thromboembolic disease.

Methionine synthase polymorphism A2756G and its association with thromboembolic disease

APOE and longevity: study of a population of Sardinian Centenarians

Apolipoprotein E is a major determinant in lipoprotein metabolism and cardiovascular disease, it has emerged as an important molecule in several biological processes including Alzheimer's disease and cognitive function. ApoE is a polymorphic protein (ε2, ε3, ε4) with three proteic isoforms, ApoE2, ApoE3, ApoE4 (1). The aim of the study was to verify the frequencies of allelic variants a population of healthy elderly people. ApoE polymorphisms were determined by Real Time-PCR. The genotype frequencies of ApoE in our group of 71 centenarians (mean age 100.9 ±1.3) were: ε2/ε3 (12.67%); ε3/ε4 (5.63%). In the control group, consisting of 97 individuals (mean age 92.98 ±2.53), the genotype freque…

Vitamin K deficiency bleeding leading to a diagnosis of Crohn’s Disease

We report the case of a 45 year old man who came to Emergency Room of Polyclinic for sudden onset of localized ecchymosis and widespread hematomas. He was subjected to blood count and first level investigations to assess coagulation. Based on the results, second level investigations were performed. Endoscopy of the gastrointestinal tract with histological examination revealed a diagnosis of Crohn's disease. Vitamin K deficiency causes the formation of vitamin K-dependent clotting factors that cannot perform their pro-coagulant action. Consequently, patients present with hemorrhagic manifestations. Clinical and laboratory features observed in this patient show that the deficiency of vitamin …

Fetuin-A, renal function and cardiovascular disease in elderly subjects

Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase MTHFR A1298C gene polymorphism in subjects affected by thromboembolic disease

Polimorfismo I/D del gene per l'enzima di conversione dell'angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?

In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96 years)…

Evaluation of the EPHX1 polymorphism on serum levels of 10, 11- eposside carbamazepine

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women

Abstract Background Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factors for AMI at young age. Methods We studied Factor V Leiden, FII G20210A, MTHFR C677T and beta-fibrinogen -455G>A variants by real-time PCR in 955 young AMI (362 females) and in 698 AMI (245 females) patients. The data were compared to those obtained in 909 unrelated subjects (458 females) from the general population of the same geographical area (southern Italy). Results In young AMI females, the allelic frequency of either FV Leiden and of FII G20210A was signif…

Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C

Summary.  Methylenetetrahydrofolate reductase status, homocysteine and lipoproteins levels have been associated with severity of disease and both rapid and sustained virological response (SVR) in patients with genotype 1 chronic hepatitis C (CHC). We aimed to assess the association of homocysteine and MTHFR status with serum cholesterol levels and their potential links to both histological findings and virological response, in patients with genotype 1 hepatitis C virus (HCV). A total of 119 consecutive patients were evaluated by biopsy and metabolic measurements. A total of 103 healthy blood donors were used as controls. Serum homocysteine and MTHFR C677T mutation were also evaluated. All p…

Prevalenza dei polimorfismi FV Leiden, FII G20210A e iperomocisteinemia in pazienti con stroke ischemico

Genetic variants beta-fibrinogen gene, especially G-455-A polymorphism, in patients with thromboembolic disease.

Metabolic sindrome and increased risk for cardiovascular disease

C677T and A1298C polymorphism of the methylentetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis

Effects of polymorphism of Methionine Synthase Reductase on total plasma homocysteine in Sicilian populations

Influence of CYP2C9 polymorphism on serum levels of phenobarbital metabolites

Factor V Leiden, Prothrombin G20210A mutations are risk factors for deep vein thrombosis

Fetuin-A serum levels are not correlated to kidney function in long-lived subjects

Objectives: Serum Fetuin A has been identified as an inhibitor of ectopic calcification. It is reduced in subjects with chronic kidney disease (CKD) and it has been proposed as a potential link between CKD and the higher prevalence of arterial calcification observed in these patients. During ageing both the stiffening of arterial wall due to calcification and a decline in kidney function are frequent. The aim of the study is to investigate if Fetuin A serum levels are associated with ageing and with AHSG T256S polymorphism. Moreover, we aim at investigate whether serum Fetuin A is correlated to kidney function in this setting of senescence. Design and Methods: 256 health long-lived subjects…

Polimorfismo del gene ACE:gene della longevità o fattore di rischio nella patologia ipertensiva

Negli ultimi decenni l’allungamento della vita media ha stimolato un particolare interesse nello studio dei processi dell’invecchiamento e nella ricerca di possibili geni coinvolti nella longevità. In particolare i centenari dimostrano di avere una prevalenza minore di malattie cardiovascolari e dei fattori di rischio ad essa correlati. L’enzima di conversione dell’angiotensina (ACE), presente in tutte le cellule endoteliali, gioca un ruolo essenziale nel mantenimento dell’omeostasi del flusso vascolare, regolando sia la produzione del vasocostrittore angiotensina II sia inattivando la bradichinina. In particolare alcuni studi hanno riportato una possibile correlazione tra il polimorfismo I…

Association between angiotensin I - converting enzyme gene insertion/deletion polymorphism and thromboembolic disease.

MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Separazione della beta-N-metilammino-L-alanina (BMAA) in campioni di liquor cefalorachidiano mediante HPLC con rilevazione fluorimetrica

Vitamin E and vitamin A plasma levels in patients with Mild Cognitive Impairent (MCI)

ADIPONECTIN, RESISTIN AND IL-6 PLASMA LEVELS IN SUBJECTS WITH DIABETIC FOOT AND POSSIBLE CORRELATION WITH CLINICAL VARIABLES AND CARDIOVASCULAR CO-MORBIDITY

Abstract Introduction It is very suggestive that diabetic foot is characterized by a pronounced inflammatory reaction and the pathogenic significance of this inflammation has received little attention. On this basis the aim of our study was to evaluate plasma levels of adiponectin, resistin and IL-6 in subjects with diabetic foot in comparison with subjects without foot complications. Materials and methods We recruited 34 subjects with type 2 diabetes mellitus and foot ulceration hospitalized for every condition related to diabetic disease, but not for new vascular events (group A). As controls we recruited 37 patients with type 2 diabetes mellitus without foot ulceration (group B) hospital…

The role of prothrombotic variants in acute ischemic stroke

The importance of “hot chain” in the research and characterization of cryoglobulins

Homocysteine and MTHFR gene polimorphysms in patients with venous tromboembolic disease

Apo E polymorphism as risk factor for cardiovascular diseases in Sicilian subjects.

Effects of EPHX1 and CYP3A4 polymorphisms on carbamazepine metabolism in epileptic patients

Antonietta Caruso, Chiara Bellia, Alessia Pivetti, Luisa Agnello, Federica Bazza, Concetta Scazzone, Giulia Bivona, Bruna Lo Sasso, Marcello CiaccioDepartment of Biopathology and Medical and Forensic Biotechnologies, University of Palermo, Palermo, ItalyBackground: The aim of this study was to investigate the effect of two genetic polymorphisms in the coding regions (exon 3 and exon 4) of the EPHX1 gene, ie, 337T>C and 416A>G, respectively, on the metabolism of carbamazepine (CBZ) 10,11-epoxide (the active metabolite of CBZ) by evaluating the variation in serum CBZ 10,11-epoxide levels 4 hours after administration of the drug. Moreover, we reported the genotype frequencies of …

Effect of genetics polymorphism of carbamazepine – metabolizing enzymes in epileptic patients

Fetun-A and end stage renal disease: correlations with haemodialytic single session and genotype

Several studies showed that Fetuin-a is an extracellular calcium-regulatory protein acting as a potent inhibitor of calcium-phosphate precipitation, involved also in bone metabolism because of its high affinity for hydroxyapatite. The aim of this study is to evaluate the serum Fetuin-A levels in patients with chronic renal failure before and after a single session of dialysis and to investigate the correlation between protein serum concentrations and T256S genotype. Our results show that serum Fetuin- A levels decrease 4 hours after haemodialysis treatment and a significant correlation between 256SS homozygote and serum protein levels. Ectopic calcification and particularly intravascular ca…

Plasminogen Activator Inhibitor-1 -675 4G/5G and Methylenetetrahydrofolate reductase gene variants in young acute myocardial infarction and juvenile ischemic stroke

Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C

Methylenetetrahydrofolate reductase status, homocysteine and lipoproteins levels have been associated with severity of disease and both rapid and sustained virological response (SVR) in patients with genotype 1 chronic hepatitis C (CHC). We aimed to assess the association of homocysteine and MTHFR status with serum cholesterol levels and their potential links to both histological findings and virological response, in patients with genotype 1 hepatitis C virus (HCV). A total of 119 consecutive patients were evaluated by biopsy and metabolic measurements. A total of 103 healthy blood donors were used as controls. Serum homocysteine and MTHFR C677T mutation were also evaluated. All patients un…

Fetuin-A in elderly: effect of genotype on serum levels

Fetuin-A is a circulating inhibitor of ectopic calcification in vivo; it is decreased in patients with chronic kidney disease and correlates with glomerular filtration rate in patients with coronary artery disease. However, serum levels of Fetuin-A has not been described in elderly. Aim of the study was to evaluate Fetuin-A serum levels together with AHSG T256S genotype in a population of healthy elderly. Serum fetuin-A levels were determined by ELISA. T256S polymorphism of AHSG gene was determined by PCR-RFLP. Serum Fetuin-A was 0,38 ± 0,13 g/l in the group composed by 206 healthy centenarians. Moreover, subjects with at least one S allele had lower Fetuin-A levels (P<001). Interestingly, …

A case of Hepatitis C virus and mixed cryoglobulinemia in a patient with Kidney Disease

Evaluation of plasma homocysteine levels and metabolic sindrome in patients with cardiovascular disease

No effect of MTHFR C677T variant on homocysteine metabolism in Amiotrophic Lateral Sclerosis

Prevalence and association of the Factor V Leiden and Prothrombin G20210A in healthy subjects and patients with venous tromboembolism

Effect of MTHFR polymorphism on homocysteine level after methionine loading in thromboembolic patients.

Mutations in Factor V Leiden (G1691A) and Prothrombin (G2021A) genes are important risk factors for venous thromboembolism

Frequiencies of PAI-1 4G/5G polymorphism in Elderly

Apoliprotein E gene polymorphism in subjects affected by cardiovascular disease in Sicilian populations

MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Amiotrophic lateral sclerosis (ALS) is a neurological disorder with a multifactorial etiopathogenesis including excitotoxicity, intracellular calcium increase and mitochondrial damage together with oxidative stress and apoptosis. Overall, the relationship between homocysteine (Hcy), motoneuron death and ALS appears to be complex and still under investigation. It has been already shown that Hcy is elevated in plasma and cerebrospinal fluid (CSF) of ALS patients, although mechanisms of hyperhomocysteinemia have not been elucidated yet. MTHFR C677T variant is the most common genetic determinant of increased homocysteinemia, but no studies regarding the effect of this polymorphism in ALS patien…

APO E allelic variants in healthy elderly people

Methionine loading test and genetic risk factors in subjects affected by thromboembolic disease