RESUMO
Objective: Y chromosome Microdeletions are the second genetic cause of infertility in men. Despite its importance for infertility treatment, there is no previous research in Peru. The aim of this study was to determine the frequencies and characteristics of Y chromosome microdeletions in a group of men who sought infertility consultation at a specialized reproductive medicine center in Peru. Methods: In this study, 201 semen samples were analyzed. The samples were obtained from Niu Vida's fertility program. Each seminal sample was analyzed according to the recommendations of the Laboratory Manual of the World Health Organization (WHO) 2010. A buccal swab and a 500 µL aliquot of seminal sample were used for the molecular study of Y chromosome microdeletions in each patient. The frequencies and the type of Y chromosome microdeletion in the AZFa, AZFb and AZFc regions were evaluated. Results: The prevalence of Y chromosome microdeletions in the AZF region was 6.45% in oligozoospermic and azoospermic patients, and a prevalence of 20% was observed specifically in azoospermic patients. No microdeletions of AZFb type were detected. A partial region microdeletion of AZFa was detected in a teratozoospermic patient with a normal sperm count. Conclusions: The study represents the first report on the incidence of Y chromosome microdeletions in Peru. Our results indicate a high prevalence of microdeletions in azoospermic patients compared to similar studies. It is suggested to assess the presence of AZFa microdeletions and to evaluate additional genetic markers in this region to identify specific mutations that may cause impaired sperm production and male infertility in the Peruvian male population.
RESUMO
BACKGROUND: Despite the wide use of oxcarbazepine (OXC) there is little data concerning the usefulness of plasma level monitoring with this drug in Mexican patients with epilepsy. The purpose of the present study was to determine whether OXC levels correlate with dose, age, weight, or drugs used concomitantly. METHODS: Plasma levels of the antiepileptic drug OXC were evaluated in 214 patients with epilepsy. In each patient, plasma MHD (10-hydroxycarbazepine, the main metabolite of OXC) concentration was determined. Additionally, plasma protein binding was determined in 30 patients and affinity to red blood cells (RBCs) was evaluated in 50 patients. RESULTS: Our results showed that the mean plasma level of MHD was 15.34 microg/mL, mean protein binding ranged between 30-40%, and the mean RBC concentration was 18.38 microg/mL. A relationship between dose/weight and plasma concentration was found (r = 0.5149, p <0.001). In addition, a linear relationship between plasma and RBC concentration was established (r = 0.8806, p <0.0001). CONCLUSIONS: These results suggest that for OXC, routine RBC concentrations are not necessary to make drug adjustments.