Determination of neutral polymorphisms (frameworks) of the human beta globin gene in beta thalassaemias by PCR/DGGE

Purpose: Considering the importance of type beta thalassaemias as hereditary syndromes of high significance in different populations of Mediterranean origin and, by extension, in the Brazilian population, the objective of the present study was to determine by PCR/DGGE the gene structures responsible for neutral polymorphisms (frameworks) observed in the human beta globin gene associated with the mutations responsible for type beta thalassaemias in a sample of the Brazilian population and, more specifically, of the population of the State of São Paulo. Patients and methods: Thirty individuals with beta thalassaemic mutations were analyzed: 22 mutations were in codon 39 (C->T), 5 in IVS1-110 (G->A), 2 in IVS1-6 (T->C) and 1 in IVS1-1 (G->A). DNA was extracted and selective amplification was performed by PCR extending from position IVS1 nt 46 to IVS2 nt 126 (474 pb). The product was then analyzed by polyacrylamide gel electrophoresis on a denaturing 10-60% urea/formamide gradient. Results: The results demonstrated that, as expected, the mutations responsible for type beta thalassaemia observed in this population are of Mediterranean origin, with 73% distribution represented by codon 39,17% by IVS1-110, 7% by IVS1-6 and 3% by IVS1-1. In turn, framework distribution seems to indicate a higher frequency of Fr 1-1 in codon 39 and IVS1-110, of Fr 1-3 in IVS1-6 and of Fr 1-2 in IVS1-1. Conclusions: These results permit us to conclude that gene amplification by PCR followed by DGGE is an appropriate method for the separation of DNA molecules that differ even by a single base change and therefore can be utilized to detect the alterations observed in the human beta globin gene. This methodology shows that, using only a pair of primers, it is possible to define the frameworks that are observed in the beta globin gene.

Efficacy and Tolerability of the Combination Valsartan/Hydrochlorothiazide Compared with Amlodipine in a Mild-to-moderately Hypertensive Brazilian Population

Most hypertensive patients need more than one drug to reach recommended blood-pressure targets. We investigated the effects on 24-h ambulatory blood pressure (ABP) of the angiotensin-receptor blocker, valsartan, in combination with hydrochlorothiazide (HCTZ), compared with the calcium-channel blocker amlodipine in a Brazilian population in a multicentre, double-blind, double-dummy, parallel group, controlled study in 373 patients with essential hypertension. After a 2-week washout period, patients with a mean sitting systolic blood pressure (SBP) of 160-190 mmHg were randomized to receive either valsartan 160 mg o.d., or amlodipine 5 mg o.d. for 2 weeks and subsequently force-titrated to valsartan 160 mg/HCTZ 25 mg o.d. or amlodipine 10 mg o.d. This regimen was continued until the end of the study at week 8. The primary efficacy parameter was the change from baseline to week 8 in mean 24-h SBP. Secondary endpoints were change in mean 24-h diastolic blood pressure (DBP), tolerability and safety of treatments. Valsartan/HCTZ achieved a mean reduction in systolic ABP of -19.1 ± 11.3 mmHg compared with -20.7 ± 12.0 mmHg with amlodipine (p = 0.324 for the comparison) and in diastolic ABP by -11.1 ± 7.4 mmHg vs -11.6 ± 7.2 mmHg by amlodipine (p = 0.853 for the comparison). The valsartan/HCTZ group exhibited markedly lower rates of adverse events and discontinuations than the amlodipine group. Peripheral oedemas were far more frequent with amlodipine than with valsartan/HCTZ (1.6% with valsartan/HCTZ; 16.8% with amlodipine). Thus, the valsartan 160 mg/HCTZ 25 mg combination appears to be as efficacious as amlodipine 10 mg in this patient population but better tolerated.

Etiologia e incidência das fraturas faciais em adultos e crianças: Experiência em 513 casos

Facial trauma has presented an increasing occurrence in the last four decades, due especially to the growth of accidents with automobiles as well as to the urban violence. Both of which continue being the main cause of such traumas. Aim: To evaluate the features of the population victim of facial trauma as to gender, age, occupation, origin, type of fracture and its cause. Design study: retrospective clinical with transversal cohort. Material and Method: Retrospective study consulting hospital registers of 513 patients victms of the facial trauma. Results: There was a higher incidence of facial trauma on men (84,9%), white (82,7) and with an average age of 29. Regarding occupation, the trauma was mostly occurred to students (16,6%) and Masons (11,2%). The jaw was the most affected place (35%), followed by zygoma (24%) and by the nose (23%), though most patients presented a single facial fracture (82,5%). Among the causes, accidents with automobiles (28,3%), aggressions (21%) and accidental fall s (19,5%) were the most common. Conclusions: Accidents with automobiles continue being the main cause of facial trauma, especially of multiple factures due to the great transmission of kinetic energy.

Nasal width as a guide for the selection of maxillary complete denture anterior teeth in four racial groups

Purpose: Selecting artificial teeth for edentulous patients is difficult when pre-extraction records are not available. Various guidelines have been suggested for determining the width of the maxillary anterior denture teeth. This study was undertaken to evaluate the use of the nasal width as a guide for the selection of proper width maxillary anterior denture teeth in four racial groups of the Brazilian population. Materials and Methods: One hundred and sixty subjects (40 Whites, 40 Mulattos, 40 Blacks, and 40 Asians) were selected. Using a sliding caliper, the nasal width and the intercanine distance were measured. The Pearson product-moment correlation coefficient was used to determine the relationship between the above measurements. A prediction was made of the percentage of subjects of the White, Mulatto, Black, and Asian populations in which the selection error due to the clinical application of the method of the nasal width would be within 0 to 2 mm, within 2 to 4 mm, and greater than 4 mm. Results: The four racial groups showed a weak correlation between the intercanine distance and the nasal width. In 39.7% of the White, 55.7% of the Mulatto, 81.9% of the Black, and 48.2% of the Asian populations, errors greater than 4 mm would be present with the use of the nasal width. Conclusions: The correlation found between the intercanine distance and the nasal width was not high enough to be used as a predictive factor. The relationship between natural tooth width and artificial tooth width as predicted by the nasal width showed that the nasal width method is not accurate for all the studied groups. Copyright © 2006 by The American College of Prosthodontists.

Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels.

Fetal hemoglobin (Hb F) is characteristic of the fetal development period. However, in some genetic conditions, such as hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia), Hb F continues to be produced in adulthood. We evaluated the frequency of two mutations of HPFH, HPFH-1 and HPFH-2 African, and two mutations in δβ-thalassemia, Sicilian and Spanish, in a Brazilian population. Peripheral blood samples were collected from adults from hospitals and blood centers in southeast and northeast Brazil. These individuals were healthy and without complaints of anemia, but had increased Hb F. Samples were submitted to electrophoretic and chromatographic analyses to quantify Hb F values and, subsequently, to molecular analyses to verify the mutations. In the molecular analysis, 16 of the 60 samples showed a heterozygous profile for the HPFH mutations, two for HPFH-1 and 14 for HPFH-2. In the same sample set, three were heterozygous for Spanish δβ-thalassemia and none were heterozygous for Sicilian δβ- thalassemia. The Hb F values in the HPFH-2 heterozygotes differed from those previously reported for this mutation. In this group, the HPFH mutations were more frequent than the δβ-thalassemia mutations. The finding of these mutations in this Brazilian population reflects the mixing process that occurred during its formation.

O lugar e o espaço, na constituição do ser kalunga

Pós-graduação em Educação Matemática - IGCE

Impactos das imigrações espanhola e sirio-libanesa como fator para o desenvolvimento econômico e diversidade cultural na organização do espaço geográfico piracicabano-sp

Pós-graduação em Geografia - IGCE

Etnografia das vigílias de oração nos montes dos guerreiros de oração de sapucaia

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Tekoá Mirim: terra indígena Mbyá Guarani

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

A Vale em Moçambique: uma etnografia das relações entre brasileiros e moçambicanos no cotidiano dos megaprojetos

Pós-graduação em Ciências Sociais - FCLAR

Rastros em chão branco: o sertão de João Guimarães Rosa entre percepções e memórias de travessias

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Explorando potencialidades para a criação de rede de apoio social a mulheres lusófonas que vivem com câncer de mama em Toronto, Canadá

Introduction: Health indicators tend to be altered due to the participation of people in social networks. Objective: To find out ideas of individuals belonging to Portuguese speaking communities in Toronto, Canada, about the possibility of creating a social support network for women experiencing breast cancer. Method: Nineteen participants of the present ethnographic and critical study answered to questions, providing their opinions regarding to the social support network and its positive and negative aspects. Also, the participants suggested other possible individuals who could participate and help in the creation of such network. Discussions were transcribed, analysed and coded using qualitative software called Atlas ti 6.0. Results: The main components for the creation of the social support network were: the demystification of breast cancer and its prevention, emphasis in health education, dissemination of the need of volunteers and a direct social support to those women. The positive aspects were the participation of oldest women as social leaders and the utilization of schools and religious institutions for publicity. Negative aspects that were perceived as barriers are: the belief that breast cancer is a disease lived by women, the lack of knowledge about its cure and rehabilitation, as well as a collective sensitiveness to it. Also, about the participation of community leaders, the suggestions were: diplomats, priests and pastors, schools directors and communication entrepreneurs. Conclusion: The creation of the social support network should consider the cultural sensitiveness and the inner diversity of the consulted Portuguese speaking communities. Due to the insufficient number of Angolan participants to sustain a major analysis, a special recommendation was that Angolan social leaders and professionals should be invited to design the structure of such network according to their specific cultural traits.