PRÁTICAS MUSICAIS EM SALA DE AULA INCLUSIVA

Este artigo é parte de uma investigação de mestrado. O objetivo é trazer entendimento da corrente pedagógica Waldorf e algumas considerações da Antroposofia, que fundamentam as orientações para as práticas musicais e inclusão. Os resultados apresentam: 1) o favorecimento para as práticas musicais em contexto inclusivo; 2) a escola como organismo social promovendo a troca entre professores, pais e grupo de apoio; 3) a importância do equilíbrio dos conteúdos, respeitando as etapas de desenvolvimento do aluno na perspectiva de promover a saúde global da criança

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation

PURPOSE. Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of the novel P25L RPE65 mutation was correlated with its early-childhood phenotype and compared with other pathogenic missense mutations. METHODS. In addition to typical clinical tests, fundus autofluorescence (FAF), optical coherence tomography (OCT), and two-color threshold perimetry (2CTP) were measured. RPE65 mutations were screened by SSCP and direct sequencing. Isomerase activity of mutant RPE65 was assayed in 293F cells and quantified by HPLC analysis of retinoids. RESULTS. A very mild phenotype was detected in a now 7-yearold boy homozygous for the P25L mutation in RPE65. Although abnormal dark adaptation was noticed early, best corrected visual acuity was 20/20 at age 5 years and 20/30 at age 7 years. Nystagmus was absent. Cone electroretinogram (ERG) was measurable, rod ERG severely reduced, and FAF very low. 2CTP detected mainly cone-mediated responses in scotopic conditions, and light-adapted cone responses were approximately 1.5 log units below normal. High-resolution spectral domain OCT revealed morphologic changes. Isomerase activity in 293F cells transfected with RPE65/P25L was reduced to 7.7% of wild-type RPE65-transfected cells, whereas RPE65/ L22P-transfected cells had 13.5%. CONCLUSIONS. The mild clinical phenotype observed is consistent with the residual activity of a severely hypomorphic mutant RPE65. Reduction to Ͻ10% of wild-type RPE65 activity by homozygous P25L correlates with almost complete rod function loss and cone amplitude reduction. Functional survival of cones is possible in patients with residual RPE65 isomerase activity. This patient should profit most from gene therapy. (Invest Ophthalmol Vis Sci. 2008;49:5235-5242) DOI: 10.1167/iovs.07-1671 H uman mutations in the gene for the highly preferentially expressed RPE protein RPE65 are associated with a spectrum of retinal dystrophies ranging from more severe earlyonset conditions, variously described as Leber congenital amaurosis type 2/autosomal recessive childhood-onset severe retinal dystrophy or early-onset severe retinal dystrophy (LCA2/arCSR, EOSRD) to later onset conditions described as autosomal recessive retinitis pigmentosa (arRP). 1-7 Recently, RPE65 has been established as the isomerase central to the retinoid visual cycle. 8 -10 This cycle 11 is crucial for supply of the chromophore 11-cis retinal for visual pigment regeneration. Animal models have contributed greatly to our understanding of the role of RPE65 in the visual cycle, regeneration, and retinal dystrophy. Rpe65 knockout mice display a biochemical phenotype consisting of extreme chromophore starvation (no rhodopsin) in the photoreceptors concurrent with overaccumulation of all-trans retinyl esters in the RPE 10 and are extremely insensitive to light. This insensitivity to light protects Rpe65 Ϫ/Ϫ mice from light damage, establishing rhodopsin as the mediator of light-induced retinal damage. 12 There is also a natural mutation in mouse Rpe65 called rd12. 14,15 The utility of gene therapy was established by preclinical trials in these dogs. 21 This level appears to be more than enough to maintain near-normal function. In contrast, human RPE65 EOSRD displays a wide spectrum of severity, age of onset, and progression not seen in animal models. In this article, we present the mild phenotypic consequences of a homozygous P25L missense mutation in a young patient and correlate these with the biochemical effect of this mutation on RPE65 activity. We show that even though the isomerase activity of the mutant RPE65 was quite impaired, the patient had near-normal visual acuity. However, rod function was extremely impaired. In addition, short-wavelength cones appeared more impaired than long-wavelength cones, consistent with findings in other patients with RPE65 mutations that blue color vision is much more and earlier impaired than is red vision, opposite to the usual case in cone dystrophies. These From th

Programa Nupeart: Sistematizando Ações de Ensino, Pesquisa e Extensão

O presente artigo tem como objetivo apresentar as ações de extensão ocorridas no programa NUPEART: Uma articulação CEAD e CEART. O NUPEART foi criado no ano de 2000 por um grupo de professores atuantes na área de ensino de arte com o objetivo de atender as demandas e lacunas no contexto do ensino de arte e formação de professores. No presente texto, buscamos relatar as experiências de articulação de ensino, pesquisa e extensão, ocorridas no programa no ano de 2010. A essas experiências acoplamos a realização do Ciclo expositivo: Educação, Arte e Inclusão proposto com recursos do editalde cultura da UDESC

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

Contains fulltext : 69886.pdf (publisher's version ) (Open Access)PURPOSE: The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland. METHODS: In addition to all coding exons of RP2, exons 1 through 15, 9a, ORF15, 15a and 15b of RPGR were screened for mutations. PCR products were amplified from genomic DNA extracted from blood samples and analyzed by direct sequencing. In one family with apparently dominant inheritance of RP, linkage analysis identified an interval on the X chromosome containing RPGR, and mutation screening revealed a pathogenic variant in this gene. Patients of this family were examined clinically and by X-inactivation studies. RESULTS: This study included 141 RP families with possible X-chromosomal inheritance. In total, we identified 46 families with pathogenic sequence alterations in RPGR and RP2, of which 17 mutations have not been described previously. Two of the novel mutations represent the most 3'-terminal pathogenic sequence variants in RPGR and RP2 reported to date. In exon ORF15 of RPGR, we found eight novel and 14 known mutations. All lead to a disruption of open reading frame. Of the families with suggested X-chromosomal inheritance, 35% showed mutations in ORF15. In addition, we found five novel mutations in other exons of RPGR and four in RP2. Deletions in ORF15 of RPGR were identified in three families in which female carriers showed variable manifestation of the phenotype. Furthermore, an ORF15 mutation was found in an RP patient who additionally carries a 6.4 kbp deletion downstream of the coding region of exon ORF15. We did not identify mutations in 39 sporadic male cases from Switzerland. CONCLUSIONS: RPGR mutations were confirmed to be the most frequent cause of RP in families with an X-chromosomal inheritance pattern. We propose a screening strategy to provide molecular diagnostics in these families

Characterization of a family with X-linked retinitis pigmentosa and variable expressivity in mutation carriers

Pedigree with three generations. Circles represent females and squares represent males. Slashed symbols indicate deceased family members. Filled black symbols denote family members with retinitis pigmentosa (RP), and circles with a dot indicate female mutation carriers who had no history of visual complaints. Horizontal bars designate family members whose genotype was determined by molecular genetic testing. Arrow marks the index patient 25085. The mutation c.2405_2406delAG in exon ORF15 of segregates with the disease in males, and shows variable heterozygote manifestation in females. Fundus pictures of three affected family members show typical pigmentations found in the peripheral retina of patients with RP. Patient age and gender are provided below each fundus photograph. Pattern of X-chromosome inactivation of selected female family members. None showed a unilateral X-inactivation at the AR-locus. The following abbreviations and symbols are used: control nonrandom X-inactivation (C-nr), control random X-inactivation (C-r), HpaII digestion (+), and no HpaII digestion (-).<p><b>Copyright information:</b></p><p>Taken from "Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing"</p><p></p><p>Molecular Vision 2008;14():1081-1093.</p><p>Published online 06 Jun 2008</p><p>PMCID:PMC2426717.</p><p></p