RESUMEN
BACKGROUND: Risperidone is one of commonly utilized antipsychotic in clinical practice. Various metabolizing enzymes effect the plasma levels of risperidone and its active metabolite and thus its clinical efficacy. So, we attempted to evaluate the relationship between CYP2D6*10 (rs1065852) and CYP2D6*4 (rs3892097) gene polymorphism and the plasma concentration of risperidone and its metabolite in patients with schizophrenia. METHODOLOGY: It was a 12-week prospective study carried out in patients diagnosed with schizophrenia. The dose of risperidone was increased weekly by 1 mg and rating of psychopathology was done using Positive and Negative Syndrome Scale (PANSS). Quantification of plasma level of risperidone and 9-hydroxyrisperidone was carried out at week 6 and 12 of treatment. The *4 and *10 alleles of CYP2D6 were genotyped and their effect on metabolism of risperidone was assessed. RESULTS: The number of CYP2D6*4 alleles affected the plasma levels of risperidone, 9-hydroxyrisperidone at 6 weeks of treatment but not at 12 weeks. On the other hand, the number of mutated alleles for CYP2D6*10 influenced the dose corrected plasma concentration of risperidone and active moiety at 12 weeks of treatment. The ratio of plasma concentration of risperidone and 9-hydroxyrisperidone was more than one in all study participants, thus, suggesting that they were poor metabolizers of risperidone. CONCLUSION: The polymorphism of CYP2D6*10 affects the steady state plasma concentration of risperidone in Indian patients with schizophrenia.
RESUMEN
The present study was undertaken to study the impact of surgical menopause on oxidant and antioxidant status in relation to estrogen levels after 3 months of surgery. Total 130 women who had undergone total hysterectomy (TH) with or without bilateral salpingo-oophorectomy (BSO) were included in this study. The oxidant status was assessed by measuring plasma levels of malondialdehyde and antioxidant status was assessed by measuring superoxide dismutase, catalase, glutathione, glutathione peroxidase, estrogen, and Vitamin A, E and C levels. The malondialdehyde level was significantly increased (p < 0.05) in all women who underwent TH with or without BSO. Significant increased levels of superoxide dismutase were observed in women who underwent TH with BSO. The blood glutathione levels were significantly decreased in women after TH only but significantly increased in women who had undergone TH with BSO. The levels of estrogen, vitamin E and vitamin C were significantly decreased in women who underwent TH with BSO. The catalase, GPx and vitamin A did not differ significantly in all groups. The result suggests that surgical menopause is associated with oxidative stress which reiterates the fact that ovaries retain some function even after menopause.
RESUMEN
OBJECTIVE: To establish newborn screening in Indian scenario that could lay a framework for future such initiatives. Three disorders namely, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for newborn screening. METHODS: Heel-prick blood samples were collected from live-born neonates at 24-48 h of birth as a part of a screening program after prior written consent from the parents. Blood levels of glucose-6-phosphate-dehydrogenase enzyme (G-6-PD), thyroid-stimulating hormone (TSH) and 17-α-OH progesterone (17-OHP) were measured using DELFIA time resolved fluoroimmunoassay. RESULTS: Six thousand eight hundred and thirteen (6,813) neonates (86.3%), out of a total of 7,893 live births in our institute during the period May'2007 through July'2009, were screened for CAH, CH and G6PD deficiency. Major reason for missing samples was early discharge of the neonates and admission to the neonatal intensive care unit. G-6-PD deficiency was confirmed in 61 cases, congenital hypothyroidism (CH) in 2 cases and congenital adrenal hyperplasia (CAH) in 1 neonate, accounting for an incidence of 1/112 for G-6-PDD, 1/ 3400 for CH and 1/6813 for CAH. CONCLUSIONS: Preliminary data on prevalence of various genetic disorders viz. G-6-PDD, CH and CAH in the population of this region revealed that G-6-PDD is most prevalent disorder followed by CH and CAH. More efforts need to be undertaken to create awareness and emphasis on significance of preventive testing to make screening a successful program in India.