Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul

Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this study was to evaluate the public National Newborn Screening Program in the municipality of Carazinho, state of Rio Grande do Sul (RS), Brazil. Methods: This was a population-based, retrospective, descriptive study. We collected and transcribed data from a database of the Carazinho municipal laboratory, which is affiliated with the referral center for newborn screening in RS. The records of all individuals undergoing newborn screening from 2005 to 2010 were reviewed, and information was collected on the program coverage, time elapsed between birth and screening (first collection), and test results. Results: The program had a coverage of 75.5%. One suspected case of phenylketonuria, three suspected cases of congenital hypothyroidism and no suspected cases of hemoglobinopathy were identified. In addition, there were 18 positive results for hemoglobin S heterozygosity, five for hemoglobin D heterozygosity, two for hemoglobin C heterozygosity, and one for a rare variant hemoglobin. When analyzing the newborn's age at the time of blood collection, it was observed that 63.1% were within the recommended age range. Conclusions: Our findings suggest the need for optimization of public newborn screening in the evaluated municipality. The strategies to be adopted should include education of the population and especially of managers and health professionals about the importance of newborn screening. (AU)

A complete molecular biology assay for hepatitis C virus detection, quantification and genotyping

Introduction Molecular biology procedures to detect, genotype and quantify hepatitis C virus (HCV) RNA in clinical samples have been extensively described. Routine commercial methods for each specific purpose (detection, quantification and genotyping) are also available, all of which are typically based on polymerase chain reaction (PCR) targeting the HCV 5′ untranslated region (5′UTR). This study was performed to develop and validate a complete serial laboratory assay that combines real-time nested reverse transcription-polymerase chain reaction (RT-PCR) and restriction fragment length polymorphism (RFLP) techniques for the complete molecular analysis of HCV (detection, genotyping and viral load) in clinical samples. Methods Published HCV sequences were compared to select specific primers, probe and restriction enzyme sites. An original real-time nested RT-PCR-RFLP assay was then developed and validated to detect, genotype and quantify HCV in plasma samples. Results The real-time nested RT-PCR data were linear and reproducible for HCV analysis in clinical samples. High correlations (> 0.97) were observed between samples with different viral loads and the corresponding read cycle (Ct - Cycle threshold), and this part of the assay had a wide dynamic range of analysis. Additionally, HCV genotypes 1, 2 and 3 were successfully distinguished using the RFLP method. Conclusions A complete serial molecular assay was developed and validated for HCV detection, quantification and genotyping. .

Análise dos aspectos epidemiológicos, hematológicos e sorológicos presentes em doadores de sangue do HemocentroRegional de Cruz Alta / Analysis of the epidemiological, haematological and serological aspects present in blood donors in the Regional Blood-Center of Cruz Alta

A triagem sorológica, bem como a determinação de alguns antígenos sanguíneos são estratégias imprescindíveis para se evitar a transmissão de agentes infecciosos e asreações transfusionais. O objetivo deste estudo é avaliar o perfil epidemiológico, hematológico e imunossorológico entre doadores de sangue do Hemocentro Regional de Cruz Alta durante o ano de 2007. O estudo retrospectivo foi realizado através das fichas de triagem clínica e do banco de dados do Hemocentro. Dentre 3.512 doadores analisados, 172 (4,9%) apresentaram anti-HBc reagente, 51 (1,45%) apresentaram sorologia positivapara HIV, 40 (1,13%) resultados reagentes para o HBsAg, 25 (0,71%) para a Doença de Chagas e 21 (0,60%) para hepatite C. O tipo sanguíneo O positivo foi predominante em44,54% das doações, seguido pelo A positivo (29,95%), O negativo (10,53%), B positivo (6,47%) e, em menor frequência, os tipos A negativo (4,49%), AB positivo (1,97%), Bnegativo (1,18%) e AB negativo (0,78%). Os dados obtidos evidenciaram uma baixa taxade descarte quando comparados a estudos anteriores, demonstrando um aumento da qualidade do sangue transfundido, pois a taxa de descarte de bolsas não representa apenas a prevalência de uma determinada infecção na população de doadores, mas,principalmente, a qualidade do sangue e hemocomponentes disponibilizados para transfusão.