Disease Of The Newborn
Mostrando 1-12 de 293 artigos, teses e dissertações.
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1. Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil
Abstract Objective: To analyze the performance of the cystic fibrosis (CF) newborn screening (NBS) program over its first five years in a Brazilian northeastern state. Methods: A population-based study using a screening algorithm based on immunoreactive trypsinogen (IRT)/IRT. Data were retrieved from the state referral screening center registry. The progra
Jornal de Pediatria. Publicado em: 2023
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2. Immune system: development and acquisition of immunological competence
Abstract Objectives: To describe the ontogeny of the immune system and the adaptive mechanisms of the immune system in the neonatal period, with an emphasis on transplacental antibody transport and breastfeeding. Source of data: Non-systematic literature review in the PubMed database. Summary of the findings: The last two decades have witnessed a great ad
J. Pediatr. (Rio J.). Publicado em: 2021-04
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3. Prevalence of hemoglobin abnormalities in an apparently healthy population in Benin
ABSTRACT Background: Sickle cell disease is the most common monogenic disorder in humans and is a major public health concern in sub-Saharan Africa. In Benin, the prevalence of sickle cell disease is estimated to be 4.8%. Our study aimed to describe the prevalence of hemoglobin abnormalities in an apparently healthy Benin population. Methods: One thousand
Hematol., Transfus. Cell Ther.. Publicado em: 2020-06
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4. Cuidados de enfermagem a neonato com epidermólise bolhosa: relato de caso
RESUMO Objetivo: Descrever um caso de epidermólise bolhosa ocorrido em um hospital infantil do Sul do Brasil, evidenciando o cuidado de enfermagem ao recém-nascido diagnosticado com essa patologia. Método: Estudo de caso com coleta de dados em prontuário, aprovado pela Instituição e pelo Comitê de Ética em Pesquisa com Seres Humanos. Resultados: D
Rev. esc. enferm. USP. Publicado em: 02/12/2019
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5. High-resolution computed tomography findings in young infants with cystic fibrosis detected by newborn screening
OBJECTIVE: High-resolution computed tomography (HRCT) allows the early detection of pathological changes in the lung structure, and reproducible scoring systems can be used to quantify chest computed tomography (CT) findings in patients with cystic fibrosis (CF). The aim of the study was to describe early HRCT findings according to a validated scoring syste
Clinics. Publicado em: 21/10/2019
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6. Correlation between cephalic circumference at birth and ocular alterations in patients with microcephaly potentially associated with Zika Virus infection
RESUMO: INTRODUÇÃO: O vírus Zika (ZIKV) é um arbovírus isolado pela primeira vez no ano de 1947, sendo transmitido para o homem pelo mosquito Aedes aegypti. No Brasil foi detectado pela primeira vez em maio de 2015. Desde então, ZIKV foi identificado como o agente etiológico da doença exantemática aguda no Brasil, e neuropediatras do Recife deram o
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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7. Effect of feeding heat-treated and unheated colostrum on immunoglobulin G absorption, health and performance of neonatal Holstein dairy calves
ABSTRACT. First colostrum is an important source of nutrients and immune factors which are necessary for calves in the first weeks of life. Despite these benefits, colostrum can also represent one of the earliest potential exposures of dairy calves to infectious agents which these patogens can act directly on growth and cause diseases such as scours or septi
Acta Sci., Anim. Sci.. Publicado em: 04/07/2019
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8. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis
Abstract All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention’s Newborn Screening Quality Assurance Program houses a dried blood spo
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
Abstract Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates. The introduction of second-tier testing has improved the specificity of screening for a number of disorders without any corresponding sacrifice
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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10. A SYSTEMATIC REVIEW ON THE INFLUENCE OF HLA-B POLYMORPHISMS ON HIV-1 MOTHER-TO-CHILD-TRANSMISSION
ABSTRACT Background: Mother-to-child-transmission (MTCT) is the main route of HIV-1 infection in children. Genetic studies suggest HLA-B alleles play an important role on HIV-1 transmission, progression, and control of HIV-1 infection. Objective: To evaluate which polymorphisms of HLA-B are involved in HIV-1 MTCT. Methods: Two independent reviewers perfor
Braz J Infect Dis. Publicado em: 20/05/2019
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11. Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
Abstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatog
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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12. Congenital toxoplasmosis: the challenge of early diagnosis of a complex and neglected disease
Abstract The objective of this study was to report a case of congenital toxoplasmosis that illustrates the difficulties in diagnosing this disease. The case highlights the lack of prophylactic guidelines and shortcomings in the gestational screening process. It demonstrates the peculiarities of the non-specific clinical picture of the infection acquired duri
Rev. Soc. Bras. Med. Trop.. Publicado em: 11/04/2019