Thrombophilia

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.

F. M. Amaral, Miranda-Vilela, A. L., Lordelo, G. S., Ribeiro, I. F., Daldegan, M. B., and Grisolia, C. K., “Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.”, Genet Mol Res, vol. 16, no. 1, 2017.

Molecular thrombophilic profile in Mexican patients with idiopathic recurrent pregnancy loss

J. J. López-Jiménez, Porras-Dorantes, Á., Juárez-Vázquez, C. I., García-Ortiz, J. E., Fuentes-Chávez, C. A., Lara-Navarro, I. J., Jaloma-Cruz, A. R., López-Jiménez, J. J., Porras-Dorantes, Á., Juárez-Vázquez, C. I., García-Ortiz, J. E., Fuentes-Chávez, C. A., Lara-Navarro, I. J., and Jaloma-Cruz, A. R., “Molecular thrombophilic profile in Mexican patients with idiopathic recurrent pregnancy loss”, vol. 15, p. -, 2016.

Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result of unidentified etiological factors. The results of previous studies have indicated that prothrombotic factors play a pathogenic role in early and late pregnancy. This study aimed to identify inherited prothrombotic and hypofibrinolytic risk factors in Mexican-Mestizo patients with IRPL.

Genetic polymorphisms and retinal vein occlusion in an Italian population

L. De Polo, Maltese, P. E., Rigoni, E., Bertelli, M., Cecchin, S., Staurenghi, G., and Stoppa, G., “Genetic polymorphisms and retinal vein occlusion in an Italian population”, vol. 14, pp. 13337-13341, 2015.

In this study, we assessed the prevalence of polymorphisms in genes involved in hyperhomocysteinemia or hemostasis to shed light on their role, if any, in retinal vein occlusion (RVO). We recruited 37 Italian patients (17 men and 20 women) with a diagnosis of central or branch RVO based on fundus examination and retinal fluorescein angiography, as well as 45 healthy controls. Risk factors and family history of RVO of all subjects were recorded. The distributions of polymorphisms in patients and controls were evaluated using the χ2 test and OR.

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