189 resultados para AUTOSOMAL-RECESSIVE DEAFNESS


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Recent years have seen a movement toward school inclusion of children with special educational needs. In Brazil, there is the formulation of laws guaranteeing rights for disabled people, giving you free access to regular classroom complemented by specialized educational services. In the case of students with deafness, the Federal Decree No. 5626 of 2005, recommends that schools offer the Brazilian sign language as language support, and should take into classrooms, an interpreter. In this study we conducted a mapping of the educational situation of students with hearing loss of 35 municipalities. There was a mode of education in which deaf students are enrolled, and also the municipalities have organized the specialized educational services for such students. Data were collected through interviews with managers of 35 municipalities. The results showed that the vast majority of municipalities participating in the study opted for the enrollment of deaf students in regular class. Only a few municipalities managers reported the existence of classes and enrollment in special schools or even the existence of deaf students out of schools. It also found that all municipalities have organized the specialized educational services, like additional offering in the resource rooms. We conclude that despite the existing difficulties, the Brazilian municipalities are gradually adjusting to the prospect of inclusive education. Continuing education courses should be offered in order to prepare more teachers to work with diversity.

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The process of inclusion of deaf students at regular and specialized educational institution is a complex issue, which has the main point of discussion its specificity linguistic represented by Brazilian Sign Language. Whereupon, this research analyzed how the discourses of young students with deafness on this type of education at regular and specialized educational institution from a city situated in the State of São Paulo. The aim of this study was analyze the relations between the discourses of deaf students and their production conditionals, using the dimension of Discourse Analysis and the historical-cultural psychology. As parts of this research, were used four deaf students enrolled in schools belong in the city of São Paulo, which two schools are regular and two are specialized to deaf people. The collection instruments build themselves in observation of dialogue situations in classroom and interview semistructured. The interviews were made by video recording, researcher and an interpreter. The results showed that discourse of the student enrolled in the specialized school differs in relation to the ideals of bilingual education, in this case defended by users of the Brazilian Sign Language, fact not observed in the context of the regular school.

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This research presents an analysis of the profile of participants in the second edition of the Extension Course “Libras by distance: a proposal for continuing education of teachers in inclusive educational settings”, funded by the Program for Continuing Education of Teachers in Special Education, the SEESP / MEC and the support of the UAB, whose goal was to promote a theoretical-practical-discourse on the importance of Libras in deaf education. The course was developed by the School of Philosophy and Science of UNESP / Marília, in distance mode. practicing teachers in public schools, linked to 19 Departments and / or Directors of Education in several regions of Brazil took the course. The information was collected from the questionnaire responses of the diagnostic evaluation performed in the pre-registration course. In general, the information was about place of residence, marital status, family constitution, educational training and professional experience in special education. We performed quantitative analysis and descriptive statistics on the data. The information presented refers to a summary of results for the total sample investigated. With the release of the profile of participants we expect to contribute towards the organization of new extension courses in the area of deafness, in distance mode, aimed at the in-service training of teachers with a view to Inclusive Education.

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The specialized teachers' training to work in multifunctional resource classrooms still has to reach a satisfactory level. These teachers are expected to keep a set of resources and devices used to teach a wide range of students with different disabilities. That fact leads to reflection by the academic community. Thus what specific content should such training address? This paper aims to analyze the set of resources and equipment in a classroom and infer the teaching knowledge underlying their use. The analysis was conducted by classifying 63 resources and equipment items, which led to three categories: 1) set of materials that do not require academic knowledge; 2) set of materials that require academic knowledge related to any training course for teachers; 3) set of materials that require specific academic knowledge on working with students with disabilities. It concluded that around 36% of the resources do not require academic knowledge to be used; 35% of these resources and equipment require some academic knowledge to be properly handled, and around 29% of these resources and equipment require specific academic knowledge of their content. For instance, a specific training of those resources is necessary for acting with students with severe communication disorders, multiple disabilities and visual impairment or deafness.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The reading of history is a fundamental part of early literacy for children as part of the goals for all children's education. The wheel of history or storytelling is an important moment of great help in the cognitive development of children, including a child with disabilities. Searching the accessibility of communication is that the present study aimed to make accessible in Brazilian Sign Language (LIBRAS) the book O Penuginha by Luiz Vitor Martinello. To facilitate the achievement of this objective, it was considered appropriate to develop a descriptive study following the methodology of qualitative research, to survey the literature on how learning takes place in the Portuguese language by deaf students. This study resulted in a DVD with video recording with the translation of the book O Penuginha in LIBRAS and the narration of the book in Portuguese. Therefore, this project became relevant as the paradigm of the twenty first century is the inclusion of all people in different scenarios and the school is one of the first places where the removal of barriers is essential

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Cytogenetic analyses of triatomines are considered to be important taxonomic tools. Thus, we analyzed the pattern of constitutive heterochromatin in 7 species of triatomine with fragmentation of the sex chromosome X, focusing on the cytotaxonomy of these triatomines. The species analyzed included Triatoma vitticeps, Triatoma melanocephala, Triatoma tibiamaculata, Triatoma protracta, Meccus pallidipennis, Panstrongylus megistus, and Panstrongylus lignarius. The seminiferous tubules of the adult males were subjected to C-banding. P. megistus and P. lignarius showed differences in chromosome number and disposition of constitutive heterochromatin, as only P. lignarius showed C-blocks in autosomes. C-banding can differentiate these species, since one of the sex chromosome (X) is heterochromatic in T. vitticeps. T. protracta showed C-blocks in both ends of all autosomes, T. tibiamaculata showed terminal C-dots in some autosomal pairs and M. pallidipennis did not show constitutive heterochromatin in autosomes. Thus, we confirmed the heterochromatic pattern of 7 species of insects and emphasized the importance of cytogenetic techniques for C-banding for taxonomy studies of the triatomines, which are important vectors of Chagas disease.

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Pós-graduação em Medicina Veterinária - FMVZ

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Pós-graduação em Genética e Melhoramento Animal - FCAV

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The process of inclusion of deaf students at regular and specialized educational institution is a complex issue, which has the main point of discussion its specificity linguistic represented by Brazilian Sign Language. Whereupon, this research analyzed how the discourses of young students with deafness on this type of education at regular and specialized educational institution from a city situated in the State of São Paulo. The aim of this study was analyze the relations between the discourses of deaf students and their production conditionals, using the dimension of Discourse Analysis and the historical-cultural psychology. As parts of this research, were used four deaf students enrolled in schools belong in the city of São Paulo, which two schools are regular and two are specialized to deaf people. The collection instruments build themselves in observation of dialogue situations in classroom and interview semistructured. The interviews were made by video recording, researcher and an interpreter. The results showed that discourse of the student enrolled in the specialized school differs in relation to the ideals of bilingual education, in this case defended by users of the Brazilian Sign Language, fact not observed in the context of the regular school.

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Schwartz-Jampel syndrome (SJS) is a rare recessive disorder characterized mainly by myotonia. As the clinical signs and symptoms are manifested in the oromaxillofacial region, paediatric dentists may be first choice of parents that seek information and assistance to their children. A female patient diagnosed with SJS was brought to our clinic for dental treatment with main complain of difficulty on oral hygiene and mastication due to tooth crowding. The treatment included preventive measures, extraction of a supernumerary tooth and the maxillary primary second molars. Furthermore, the patient was referred to orthodontic treatment for correction of tooth crowding. When dealing with children with confirmed diagnosis of SSJ, paediatric dentists should be understand the need of planning the dental treatment considering the characteristics and possible complications associated with the syndrome in order to reduce the risks to patients, especially when surgical procedures are necessary.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Polycystic kidney disease (PKD) is a hereditary autosomal dominant disorder that mainly affects Persian cats; it is an important cause of chronic kidney disease in this species. Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats, and there is evidence of a genetic origin in some breeds. Although neither of these disorders is rare in cats, according to our literature review, this is the first report of the concomitant occurrence of PKD and HCM in Persian cats in Brazil.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)