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Biomedical subjects

L Mesci

Publications and source records attributed to L Mesci.

8 recordsLinked to original sources
PubMed1998

Thrombomodulin levels in Behçet's disease with and without the factor V Leiden mutation.

The plasma levels of thrombomodulin (TM) in 34 patients with Behçet's disease and 79 healthy control subjects were studied. Eight patients had the factor V Leiden (FVL) mutation. The TM level was significantly lower in patients with the FVL mutation than in patients without the mutation and in the healthy controls (p < 0.05 and p < 0.01). However, there was no difference in overall mean plasma TM concentration between the patients without the mutation and the healthy controls.

Behcet Syndrome↗
PubMed1998

Factor V Leiden mutation in patients with Behçet's disease.

OBJECTIVE: To determine the relation between factor V Leiden and Behçet's disease (BD), which is described as chronic relapsing vasculitis with pathogenetic mechanisms that seem to be related to anticoagulant pathways. METHODS: Using polymerase chain reaction, the factor V Leiden mutation was investigated in 44 patients with BD, of which 5 had thrombotic histories. RESULTS: Ten patients were found to have the factor V Leiden mutation. This frequency (22.7%) was higher than that of our general population (7.1 %) (p < 0.05). Of the 5 patients with BD with thrombotic histories, 3 (60%) had factor V Leiden mutation (one homozygote, 2 heterozygote), while 7 of 39 (17.9%) patients with no thrombotic history had the factor V Leiden mutation (2 homozygotes, 5 heterozygotes). There is no statistical difference in the frequency of the factor V mutation between patients with BD with no thrombosis and the control group. The frequency of thrombosis in BD with and without factor V Leiden mutation was (3/10) 30% and (2/34) 5.9%, respectively. CONCLUSION: These findings suggest that homozygosity or heterozygosity for factor V Leiden is not always associated with occurrence of venous thrombosis in BD, but it may be a contributing risk factor for venous thromboembolic events in these patients.

Adolescent↗
PubMed1996

Factor V Q 506 mutation in children with thrombosis.

The factor V Leiden mutation in 12-children with thrombosis and in 20 controls was investigated. Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among controls were found. Central nervous system thromboses were increased in children with the factor V mutation, associated with protein S deficiency.

Case-Control Studies↗
PubMedDate not supplied

Genotype-phenotype analysis in HbS-beta-thalassemia.

Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassemia patients. In 19 patients the beta-thalassemia mutations were beta+ and in 12 the beta 0 phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, beta 39, IVSII-1 and FSC8 are the genotypes associated with beta 0-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 +/- 7.8% at diagnosis and 9.7 +/- 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in beta(+)- and beta 0-thalassemia patients except for the mean HbF value which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta 0-thalassemia, respectively (p < 0.05). The study indicated that beta-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I.

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.

Anemia, Sickle Cell↗
PubMedDate not supplied

The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey.

Resistance to activated protein C (APC), which is caused by a single point mutation in the gene for factor V, is a common risk factor for thrombosis. In this study, we screened factor V (FV) Leiden mutation in 81 subjects. The mutation in the heterozygous form was found in 7.1 percent of our normal population. This high frequency suggests that screening for the FV mutation should be considered in patients with a family history of thrombosis.

Adult↗