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    ABSTRACT: This chapter reports a case study that examined the contradictions that emerged around the activity of learning to teach EFL (English as a Foreign Language) in a SLTE (Second Language Teacher Education) program in Chile. This study followed a CHAT framework which views teacher learning as a localized activity. This study examined the contradictions that emerged in two settings: schools and the university program from the perspective of pre-service teachers. The findings of this study contribute to shed light on the dialectical nature of teacher learning and its contradictory dynamics between national policies on education, teacher education programs, between theory and practice, and between the views of pre-service teachers, other stakeholders and the reality of the classroom.
    Full-text · Chapter · Jan 2015
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    ABSTRACT: Context and objective: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. Design and setting: Cross-sectional study in a referral hospital in southern Brazil. Methods: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia. Results: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma. Conclusions: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.
    Full-text · Article · Oct 2014 · Sao Paulo Medical Journal
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    ABSTRACT: Context and objective: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism. Design and setting: A retrospective study in a referral hospital in southern Brazil. Methods: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records. Results: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype. Conclusions: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.
    Full-text · Article · Sep 2014 · Sao Paulo Medical Journal


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Jornal Brasileiro de Patologia e Medicina Laboratorial 02/2010; 46(1):61-68. DOI:10.1590/S1676-24442010000100011
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