HFE gene mutations in Brazilian thalassemic patients

Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were 0.98, 2.38, and 0.29 percent for the C282Y mutation, 13.72, 13.70, and 9.54 percent for the H63D mutation, and 0, 0.60, and 0.87 percent for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.

Estimation of population profiles of two strains of the fly Megaselia scalaris (Diptera: Phoridae) by bootstrap simulation

Based on experimental population profiles of strains of the fly Megaselia scalaris (Phoridae), the minimal number of sample profiles was determined that should be repeated by bootstrap simulation process in order to obtain a confident estimation of the mean population profile and present estimations of the standard error as a precise measure of the simulations made. The original data are from experimental populations founded with SR and R4 strains, with three replicates, which were kept for 33 weeks by serial transfer technique in a constant temperature room (25 ± 1.0°C). The variable used was population size and the model adopted for each profile was a stationary stochastic process. By these simulations, the three experimental population profiles were enlarged so as to determine minimum sample size. After sample size was determined, bootstrap simulations were made in order to calculate confidence intervals and to compare the mean population profiles of these two strains. The results show that with a minimum sample size of 50, stabilization of means begins

Schistosomiasis mansoni in the municipality of Pedro de Toledo (Säo Paulo, Brazil) where the Biomphalaria tenagophila is the snail host. I-Prevalence in human population

Devido à escassez de dados epidemiológicos sobre esquistossomose mansônica onde Biomphalaria tenagophila é vetor foi desenvolvido em 1980 o presente trabalho, no município paulista de Pedro de Toledo. Foram examinadas fezes de 4741 pesssoas (Método de Kato-Katz) com prevalência de 22,8%; entre essas, 583 foram tratadas para a endemia anteriormente e 4158 näo medicadas; as prevalências nos dois grupos foram, respectivamente, 31,7% e 21,6%. Por investigaçäo epidemiológica constatou-se que 83,6% dos casos foram autóctones da área estudada. Prevalência dos autóctones näo tratados foram maiores no homem do que na mulher, a intensidade no último grupo foi baixa: 58,5 ovos g de fezes (média geométrica). De acordo com grupos etários, se correlacionaram bem (rs=0,745) as intensidades de infecçäo e as prevaleência. A infecçäo ocorreu, na zona rural, principalmente, durante lazer e trabalho doméstico. Somente 0,4% de 1137 moluscos foram positivos para Schistosoma mansoni. Esse índice foi, aparentemente, o mesmo em estudo de 1978 quando a prevalência humana era de 12,0%. A área estudada apresentou difernças e semelhanças epidemiológicas em relaçäo às áreas onde B. glabrata é o principal hospedeiro intermediário

Effect of chloramine-T on the Feulgen-DNA response of bull spermatozoa

Valores Feulgen-DNA e áreas absorventes nucleares foram determinados por citofotometria de varredura em esfregaços de espermatozóides de touro tratados com uma soluçäo a 2% de cloramina-T (agente utilizado para remoçäo do muco presente no sêmen) por 5 a 15 min. Pôde ser demonstrado que o tratamento por cloramina-T mesmo por curtos períodos de tempo näo é recomendável para preparados a serem usados na detecçäo de conteúdos de DNA, pois o mesmo remove proteínas nucleares, afetando a cinética de hidrólise de Feulgen da cromatina de modo näo homogêneo