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Zouain-Figueiredo G.P.,Hospital Infantil Nossa Senhora da Gloria | Zandonade E.,Federal University of Espirito Santo | Amorim M.H.C.,Federal University of Espirito Santo
Revista Brasileira de Saude Materno Infantil

Objectives: to analyze the patient characteristics and evaluate overall survival, survival according to demographic variables, the most common tumor groups and subgroups, the stages of disease, and risk factors after at least 5 years among children and adolescents with cancer who were admitted to a state referral hospital between 2000 and 2005. Methods: the Kaplan-Meier method was employed to estimate survival. The survival curves were compared using the log-rank test. The Cox regression model was used to estimate the effect of independent variables. Results: a total of 571 new cases were registered. The most frequent cancer groups were leukemia (34%), lymphoma (18%), and central nervous system (CNS) tumors (15%).The overall survival rate was 59%. The risk factors associated with lower survival were an age of more than 4 years or less than 1 year, the presence of CNS tumors, and non-localized disease. Conclusion: although this was not a populationbased study, it provides important epidemiological information about a state where population data on childhood and adolescent cancer are scarce and where hospital-based data do not exist. The survival rate found here should serve as a framework for future improvements, helping to guide policymakers focused on pediatric oncology in the state. Source

de Oliveira G.A.,Hospital Infantil Nossa Senhora da Gloria | Pessanha L.B.,Federal University of Espirito Santo | Guerra L.F.A.,Federal University of Espirito Santo | Martins D.L.N.,Federal University of Espirito Santo | And 2 more authors.
Radiologia Brasileira

In most cases of aspiration pneumonia in children, the disease is specific to this age group. Clinical and radiological correlation is essential for the diagnosis. The present pictorial essay is aimed at showing typical images of the most common etiologies. © Colégio Brasileiro de Radiologia e Diagnóstico por Imagem. Source

Mata B.E.L.F.,Federal University of Espirito Santo | de Oliveira J.S.B.,Federal University of Espirito Santo | Soares D.R.F.,Hospital Infantil Nossa Senhora da Gloria
Radiologia Brasileira

Infantile myofibromatosis is a rare disease with various presentations. Usually, such condition manifests itself as subcutaneous nodules, either in association or not with visceral nodules. The diagnosis should be achieved by means of physical examination and imaging studies, with emphasis on the lesions pattern to allow the staging and classification of the disease. The treatment is still controversial. © Colégio Brasileiro de Radiologia e Diagnóstico por Imagem. Source

Moraes M.V.D.,Federal University of Espirito Santo | Milanez M.,Federal University of Espirito Santo | Almada B.V.P.,Federal University of Espirito Santo | Sipolatti V.,Hospital Infantil Nossa Senhora da Gloria | And 7 more authors.
Genetics and Molecular Research

Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression of autosomal dominant OI was identifed and characterized. Scanning for mutations was carried out using SSCP and DNA sequence analysis. The missense mutation c.3235G>A was identifed within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S). The proband's mother had the disease signs, but without bone fractures, as did fve of nine uncles and aunts of the patient. All of them carried the mutation, which was excluded in four healthy brothers of the patient's mother. This is the frst description in a Brazilian family with OI showing variable expression; only one among seven carriers for the c.3235G>A mutation developed bone fractures, the most striking clinical feature of this disease. This fnding has a signifcant implication for prenatal diagnosis in OI disease. © FUNPEC-RP. Source

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