Antônio Purificação

Bio: Antônio Purificação is an academic researcher. The author has contributed to research in topics: Humanities & Dried blood spot. The author has an hindex of 4, co-authored 7 publications receiving 81 citations.

Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects

Abstract: a b s t r a c t Introduction: Screening for vertically transmitted infection is mandatory and must be con- ducted at the first prenatal consultation. The most vulnerable women's groups are those at the lowest socio-economic level. Dried blood spot testing on filter paper could represent a secure way to screen pregnant women in the prenatal period. Methods: A cross-sectional study was conducted between November 2009 and March 2010, in the Metropolitan Region of Salvador, Bahia, Brazil, to compare the accuracy of the dried blood spot in filter paper and venipuncture serological as screening methods for HIV, HTLV, VHB, VHC, Treponema pallidum, and Toxoplasma gondii during prenatal period. Results of the venous blood sample collected in tubes were considered the gold standard. Results: Serum samples and dried blood spot were obtained from 692 pregnant women aged between 14 and 42 years, with a median age of 26. Thirteen women were seropositive for T. gondii (1.88%; 95% CI: 0.60-2.71%), five for T. pallidum (0.72%; 95% CI: 0.15-1.61%), two for HBV (0.29%; 95% CI: 0.050.95%) and one for HTLV-1 (0.14%; 95% CI: 0.01-0.71%). No one was positive for HCV and HIV. The dried blood spot accuracy for syphilis and HTLV were 100% (95% CI: 99.25-100) and 100% (95% CI: 99.45-100%), respectively. The average time between blood collection and recording of the sample in the reference laboratory was 4.93 (3.82) days and between dried blood spot processing and active search for pregnant women was 3.44 (4.27) days.

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia.

Abstract: a b s t r a c t Background: In sickle cell disease, the quantification of Hb A2 is important for the differential

Avaliação do programa de triagem neonatal da bahia entre 2007 e 2009 – as lições da doença falciforme

Abstract: Na Bahia, desde a decada de 1980, estudos mostram elevada frequencia da doenca falciforme. A Triagem Neonatal (TN) representa importante estrategia de saude publica para reduzir a morbimortalidade associada a doenca. Assim, objetiva-se avaliar a cobertura, o tempo de coleta e a incidencia de doenca falciforme (DF) obtida no programa de TN da Bahia nos ultimos tres anos (2007-2009). Foram analisados, retrospectivamente, os resultados de exames do banco de dados do Servico de Referencia em Triagem Neonatal (SRTN) da Associacao de Pais e Amigos dos Excepcionais de Salvador (APAE-Salvador), com identificacao dos resultados alterados para a DF (FSS, FSC, FSD, FSA), sexo da crianca e idade da coleta. As incidencias entre os triados foram calculadas para todos os municipios. Nos anos de 2007 a 2009, obteve-se cobertura de 88,9% dos recem-nascidos vivos, sendo de 92,2% em 2009. A maioria (41,9%) tinha fenotipo FSS, seguidos pelos FSC (34,7%). A incidencia global foi de 1: 677 nascidos-vivos. Em numero absoluto de casos, Salvador (23,2%), Feira de Santana (4,6%), Lauro de Freitas (2,2%), Camacari (1,9%) e Valenca (1,8%) foram os municipios com maior numero de positivos. Coletaram o exame ate o 7o dia de vida 27,1% (262) e, entre este e o 15o dia, 41,3%, restando 305 criancas (31,6%) que realizaram o exame depois deste periodo. Os dados confirmam a maior incidencia conhecida de doenca falciforme do Brasil, e melhora acentuada na cobertura nos ultimos anos, mas idade da coleta inadequada (acima de 7 dias) na maioria dos casos. Palavras-chaves: anemia falciforme, doenca da hemoglobina SC, triagem neonatal.

Population medical genetics: translating science to the community

Abstract: Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.

The complete European guidelines on phenylketonuria: diagnosis and treatment

Abstract: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

Nutritional Management of Phenylketonuria

Abstract: Phenylketonuria (PKU) is caused by deficient activity of the enzyme phenylalanine hydroxylase, needed to convert the essential amino acid (AA) phenylalanine (phe) to tyrosine. In order to prevent neurological damage, lifelong adherence to a low-phe diet that is restricted in natural foods and requires ingestion of a phe-free AA formula to meet protein needs is required. The goal of nutritional management for those with PKU is to maintain plasma phe concentrations that support optimal growth, development, and mental functioning while providing a nutritionally complete diet. This paper reviews developing a lifelong dietary prescription for those with PKU, outcomes of nutritional management, compliance with the low-phe diet across the life cycle, and new options for nutritional management. An individualized dietary prescription is needed to meet nutrient requirements, and the adequacy of phe intake is monitored with assessment of blood phe levels. Elevated phe concentrations may occur due to illness, excessive or inadequate phe intake, or inadequate intake of AA formula. Although normal growth and development occurs with adherence to the low-phe diet, it is important to monitor vitamin, mineral and essential fatty acid status, especially in those who do not consume sufficient AA formula. Given the growing population of adults with PKU, further research is needed to understand the risks for developing osteoporosis and cardiovascular disease. There are promising new options to liberalize the diet and improve metabolic control such as tetrahydrobiopterin therapy or supplementation with large neutral AAs. Moreover, foods made with glycomacropeptide, an intact protein that contains minimal phe, improves the PKU diet by offering a palatable alternative to AA formula. In summary, continued efforts are needed to overcome the biggest challenge to living with PKU - lifelong adherence to the low-phe diet.