Polymorphism 677C → T MTHFR gene in Mexican mothers of children with complex congenital heart disease.

Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene. This is important because the homozygous 677T/T MTHFR gene and deficiency of folic acid (FA) intake have been associated with CHD. Our objective was to analyze the possible association between the genotype 677T/T of the MTHFR gene and supplementation of FA in Mexican women with the presence of complex CHD in their children. We analyzed genotypes of 31 mothers of children with complex CHD (group I) and 62 mothers of healthy children (group II) and investigated FA supplementation during pregnancy in both study groups. Allele frequencies in group I were 41.9 % for C and 58.1 % for T and 22.6 % for genotype frequencies CC, 38.7 % for CT, and 38.7 % for TT. Allele frequencies in group II were 63.7 % for C and 36.3 % for T and 38.7 % for genotype frequencies CC, 50 % for CT and 11.3 % for TT. Both populations are in Hardy-Weinberg equilibrium. Odds ratio for having a child with a complex CHD was 5.9, p = 0.008 (95 % CI 1.67; 20.63) for the TT genotype. FA supplementation at any time during pregnancy was 90.3 and 87.9 % in groups II and I respectively (p > 0.05). Association was found between the maternal genotype (677/TT MTHFR) with the presence of complex CHD in their offspring. No differences in FA supplementation during any stage were found between groups.

Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile.

OBJECTIVE: To evaluate the effects on anencephaly risk of the interaction between the maternal profile of folate, vitamin B12 and homocysteine and the 677C→T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR). DESIGN: Case-control study paired (1:1) on maternity clinic, date of birth and state of residence. Cases of anencephaly were identified using the Registry of the Mexican Neural Tube Defect Epidemiological Surveillance System. Case and control mothers were selected from the same maternity departments. All mothers completed a structured questionnaire and blood samples were obtained to determine the MTHFR 677C→T polymorphism and biochemical profile. SETTING: Mexico, Puebla and Guerrero states, Mexico. SUBJECTS: A total of 151 mothers of cases and controls were enrolled from March 2000 to February 2001. We had complete information on biochemical profile and MTHFR C677T polymorphism for ninety-eight mothers of cases and ninety-one mothers of controls. RESULTS: The adjusted models show that the risk of anencephaly in mothers with 677TT genotype was reduced by 18 % (OR = 0·82; 95 % CI 0·72, 0·94) for each 1 ng/ml increment in serum folate. In terms of tertiles, mothers with 677TT genotype with serum folate levels in the upper tertile (>14·1 ng/ml) had a 95 % lower risk to have a child with anencephaly than mothers with serum folate levels in the first and second tertiles (P trend = 0·012). CONCLUSIONS: Our data agree with the hypothesis of a gene-nutrient interaction between MTHFR 677C→T polymorphism and folate status. We observed a protective effect on anencephaly risk only in mothers with 677TT genotype as serum folate levels increased.

Acoustic Analysis and Electroglottography in Elite Vocal Performers.

BACKGROUND: Acoustic analysis of voice (AAV) and electroglottography (EGG) have been used for assessing vocal quality in patients with voice disorders. The effectiveness of these procedures for detecting mild disturbances in vocal quality in elite vocal performers has been controversial. OBJECTIVE: To compare acoustic parameters obtained by AAV and EGG before and after vocal training to determine the effectiveness of these procedures for detecting vocal improvements in elite vocal performers. MATERIALS AND METHODS: Thirty-three elite vocal performers were studied. The study group included 14 males and 19 females, ages 18-40 years, without a history of voice disorders. Acoustic parameters were obtained through AAV and EGG before and after vocal training using the Linklater method. RESULTS: Nonsignificant differences (P > 0.05) were found between values of fundamental frequency (F0), shimmer, and jitter obtained by both procedures before vocal training. Mean F0 was similar after vocal training. Jitter percentage as measured by AAV showed nonsignificant differences (P > 0.05) before and after vocal training. Shimmer percentage as measured by AAV demonstrated a significant reduction (P < 0.05) after vocal training. As measured by EGG after vocal training, shimmer and jitter were significantly reduced (P < 0.05); open quotient was significantly increased (P < 0.05); and irregularity was significantly reduced (P < 0.05). CONCLUSIONS: AAV and EGG were effective for detecting improvements in vocal function after vocal training in male and female elite vocal performers undergoing vocal training. EGG demonstrated better efficacy for detecting improvements and provided additional parameters as compared to AAV.

A comparative study on the use of tamsulosin versus alfuzosin in spontaneous micturition recovery after transurethral catheter removal in patients with benign prostatic growth.

PURPOSE: To compare the efficacy and safety of tamsulosin and alfuzosin in patients with acute urinary retention (AUR) secondary to benign prostatic hyperplasia (BPH). METHODS: Ninety men with AUR due to BPH underwent urinary catheterization and were randomly assigned to treatment groups with tamsulosin 0.4 mg (37 patients), alfuzosin 10 mg (34 patients), and placebo (19 patients). After 4 days of the drug treatment, the catheters were removed, and the patients underwent trial without catheter (TWOC). A TWOC was considered successful if the patient had a voided volume >100 ml and post-void residual urine <200 ml. RESULTS: TWOC was successful in 16 patients (43.2 %) in the tamsulosin group, 12 patients (35.2 %) in the alfuzosin group, and 5 patients (26.3 %) in the placebo group. Logistic regression analysis showed that both drugs were equally effective and that the type of alpha-blocker was not a predictive factor for TWOC success (OR 1.137, 95 % CI 0.639-2.022) (p = 0.662). CONCLUSION: Even though there were no statistically significant differences when comparing the three groups, tamsulosin showed a tendency to be more effective in a successful catheter removal. The lack of objective criteria in the definition of successful micturition leads us to believe that the effectiveness of both drugs reported in the literature is overestimated.