Navegando por Palavras-chave "Neonatal screening"

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    Adesão a um Programa de Triagem Auditiva Neonatal
    (Faculdade de Saúde Pública, Universidade de São Paulo.Associação Paulista de Saúde Pública., 2010-12-01) Françozo, Maria de Fátima de Campos; Masson, Gabriela Abrahão; Rossi, Tereza Ribeiro de Freitas; Lima, Maria Cecília Marconi Pinheiro; Colella-Santos, Maria Francisca [UNIFESP]; Universidade Estadual de Campinas (UNICAMP); Universidade Estadual Paulista (UNESP); Universidade Federal de São Paulo (UNIFESP)
    Neonatal hearing screening programs have been developed worldwide. Since 2002, the newborns from the Center for Integral Assistance to Women's Health at UNICAMP have been referred to hearing screening at the Center for Studies and Research on Rehabilitation Prof. Dr. Gabriel Porto. Nevertheless, not all newborns come to the screening and others drop out before the procedures are completed. The goal of this research was to characterize the newborns' adherence rates to the Neonatal Hearing Screening Program. A retrospective investigation was carried out, collecting data on the records of all cases screened from February to November of 2007. A total of 2107 infants were referred to hearing screening and 1310 actually came. Among those who failed the test (92 infants), 73 returned for the retest with the use of BAEP. The adherence rate in the first stage of the screening was 62.17% and, in the second, 79.34%. These rates are bellow the ones recommended by the JCIH as well as bellow those reached by hearing screening programs of some developed countries. However, they are similar to other Brazilian experiences of neonatal hearing screening programs. A close follow up of the families of those infants who failed the first stage of the screening, as well as the orientation given to them about early detection of hearing loss and its consequences, may have contributed to the increase in the adherence rate in the second stage of the screening.
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    Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01) Soardi, Fernanda Caroline; Lemos-Marini, Sofia Helena Valente de; Coeli, Fernanda Borchers; Maturana, Víctor Gonçalves; Silva, Márcia Duarte Barbosa da; Bernardi, Renan Darin; Justo, Giselle Zenker [UNIFESP]; Mello, Maricilda Palandi de; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3' end intron 4 and 5' end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies.
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    Neonatal screening for severe combined immunodeficiency in Brazil
    (Soc Brasil Pediatria, 2016) Patto Kanegae, Marilia Pyles; Barreiros, Lucila Akune; Lessa Mazzucchelli, Juliana Themudo [UNIFESP]; Hadachi, Sonia Marchezi; de Figueiredo Ferreira Guilhoto, Laura Maria; Acquesta, Ana Lucia; Genov, Isabel Rugue [UNIFESP]; Holanda, Silvia Maia; Watanabe Di Gesu, Regina Sumiko; Goulart, Ana Lucia [UNIFESP]; Nunes dos Santos, Amelia Miyashiro [UNIFESP]; Bellesi, Newton; Costa-Carvalho, Beatriz Tavares [UNIFESP]; Condino-Neto, Antonio
    Objective: To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil. Methods: 8715 newborn blood samples were collected on filter paper and, after DNA elution, TRECs were quantified by real-time polymerase chain reaction. The cutoff value to determine whether a sample was abnormal was determined by ROC curve analysis, using SSPS. Results: The concentration of TRECs in 8,682 samples ranged from 2 to 2,181 TRECs/mu L of blood, with mean and median of 324 and 259 TRECs/mu L, respectively. Forty-nine (0.56%) samples were below the cutoff (30 TRECs/mu L) and were reanalyzed. Four (0.05%) samples had abnormal results (between 16 and 29 TRECs/mu L). Samples from patients previously identified as having severe combined immunodeficiency or DiGeorge syndrome were used to validate the assay and all of them showed TRECs below the cutoff. Preterm infants had lower levels of TRECs than full-term neonates. The ROC curve showed a cutoff of 26 TRECs/mu L, with 100% sensitivity for detecting severe combined immunodeficiency. Using this value, retest and referral rates were 0.43% (37 samples) and 0.03% (3 samples), respectively. Conclusion: The technique is reliable and can be applied on a large scale after the training of technical teams throughout Brazil. (C) 2016 Published by Elsevier Editora Ltda. on behalf of Sociedade Brasileira de Pediatria. This is an open access article under the CC BY-NC-ND license.