Achados audiológicos pós-doenças infecciosas em crianças matriculadas em um centro especializado nos distúrbios da audição

Pós-graduação em Pediatria - FMB

A contribuition to the study of channel coding in wireless communication systems

Pós-graduação em Engenharia Elétrica - FEIS

Estudo de mutações no gene GJB2 e deleção delGJB6-D13S1830 em indivíduos com surdez não sindrômica da região Amazônica

A deficiência auditiva afeta cerca de 1 em cada 1000 recém-nascidos. Mutações no gene da conexina 26 (GJB2) são as causas mais frequentes de surdez não sindrômica em diferentes populações e é sabido que a mutação delGJB6-D13S1830 em DFNB30 é causadora de surdez neurossensorial. Muitos estudos descrevem o envolvimento de mutações no gene GJB2 com a deficiência auditiva em diferentes populações. Entretanto, existe pouca informação sobre a surdez genética no Brasil, especialmente na região Amazônica. OBJETIVO: Determinar a prevalência de mutações no gene GJB2 e da mutação delGJB6-D13S1830 em 77 casos esporádicos de surdez não sindrômicas. MÉTODO: A região codificante do gene GJB2 foi sequenciada e a PCR foi realizada para detectar a mutação delGJB6-D13S1830. RESULTADOS: O alelo 35delG foi encontrado em 9% dos pacientes (7/77). As mutações M34T e V95M foram detectadas em dois distintos pacientes heterozigotos. A mutação não patogênica V27I foi detectada em 28,6% (22/77). Não foi detectada a mutação delGJB6-D13S1830 em nenhum paciente estudado. CONCLUSÃO: Alelos mutantes no gene GJB2 foram observados em 40% (31/77) da amostra. Variantes patogênicas foram detectadas em apenas 12% (9/77). Mais estudos são necessários para elucidar causas genéticas de deficiência auditiva em populações miscigenadas.

Sequence characterization of coding regions of the myostatin gene (GDF8) from Brazilian Murrah buffaloes (Bubalus bubalis) and comparison with the Bos taurus sequence

Within about 30 years the Brazilian buffalo (Bubalus bubalis) herd will reach approximately 50 million head as a result of the great adaptive capacity of these animals to tropical climates, together with the good productive and reproductive potential which make these animals an important animal protein source for poor and developing countries. The myostatin gene (GDF8) is important in the physiology of stock animals because its product produces a direct effect on muscle development and consequently also on meat production. The myostatin sequence is known in several mammalian species and shows a high degree of amino acid sequence conservation, although the presence of non-silent and silent changes in the coding sequences and several alterations in the introns and untranslated regions have been identified. The objective of our work was to characterize the myostatin coding regions of B. bubalis (Murrah breed) and to compare them with the Bos taurus regions looking for variations in nucleotide and protein sequences. In this way, we were able to identify 12 variations at DNA level and five alterations on the presumed myostatin protein sequence as compared to non double-muscled bovine sequences.

Worldwide HLA-E nucleotide and haplotype variability reveals a conserved gene for coding and 3 ' untranslated regions

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

O padrão de compressão de video MPEG moving picture experts group

This work focuses on the study of video compression standard MPEG. To this end, a study was undertaken starting from the basics of digital video, addressing the components necessary for the understanding of the tools used by the video coding standard MPEG. The Motion Picture Experts Group (MPEG) was formed in the late '80s by a group of experts in order to create international standards for encoding and decoding audio and video. This paper will discuss the techniques present in the video compression standard MPEG, as well as its evolution. Will be described in the MPEG-1, MPEG-2, MPEG-4 and H.264 (MPEG-4 Part 10), however, the last two will be presented with more emphasis, because the standards are present in most modern video technologies, as in HDTV broadcasts

Produção e utilização de material didático sobre fisiologia da audição e neurofisiologia

The teaching of hearing physiology requires an knowledge integration of Human Anatomy, Biophysics, more precisely Bioacoustics and Bioelectrogenesis, as well as Neurophysiology. Students present difficulty to build knowledge about functional mechanisms of sound conduction and sensory transduction, especially if the elements are not visible forms, as the middle and inner ear structures. To make the teaching about hearing physiology and sensory perception easier, was produced a set of didactical materials about the subject. At first, a resin model that faithfully describes the anatomical relationship of the ossicles with the tympanic membrane was developed. Subsequently, a second model that, besides illustrates the mechanism of acoustic impedance overcoming, also reveals how acoustic sensorial transduction occurs in inner ear, was designed and produced. In the third didactical model, are visualized, through students interaction, areas of the cerebral cortex that interpret the different sensory modalities. In addition, were created three educational videos about hearing problems and a site on Human Hearing Physiology, available on Institute of Biosciences website. The results of this course conclusion monograph are presented in the form of articles that were submitted to Journal Physics in the School and the Journal of the Nucleus of Teaching

Alterações epigenéticas do gene RASSF1 e investigação de modulação gene-específica por non-coding RNA em linhagens celulares derivadas de carcinomas mamários

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

HLA-E coding and 3' untranslated region variability determined by next-generation sequencing in two West-African population samples

HLA-E is a non-classical Human Leucocyte Antigen class I gene with immunomodulatory properties. Whereas HLA-E expression usually occurs at low levels, it is widely distributed amongst human tissues, has the ability to bind self and non-self antigens and to interact with NK cells and T lymphocytes, being important for immunosurveillance and also for fighting against infections. HLA-E is usually the most conserved locus among all class I genes. However, most of the previous studies evaluating HLA-E variability sequenced only a few exons or genotyped known polymorphisms. Here we report a strategy to evaluate HLA-E variability by next-generation sequencing (NGS) that might be used to other HLA loci and present the HLA-E haplotype diversity considering the segment encoding the entire HLA-E mRNA (including 5'UTR, introns and the 3'UTR) in two African population samples, Susu from Guinea-Conakry and Lobi from Burkina Faso. Our results indicate that (a) the HLA-E gene is indeed conserved, encoding mainly two different protein molecules; (b) Africans do present several unknown HLA-E alleles presenting synonymous mutations; (c) the HLA-E 3'UTR is quite polymorphic and (d) haplotypes in the HLA-E 3'UTR are in close association with HLA-E coding alleles. NGS has proved to be an important tool on data generation for future studies evaluating variability in non-classical MHC genes.

Sensibilização da audição e educação sonora nos exercícios de limpeza de ouvidos: uma incursão na Educação Matemática

The teaching of acoustics has been characterized by a banking model that little contributes to the ideal training of citizens capable of understanding and acting to improve their environment soundscapes. Equally distant from the world of sound and musical culture, audio technology and acoustic environment, it is disconnected from the ever-increasing effort to raise awareness on hearing and sound education, as defended by the Canadian educator Prof. Raymond Murray Schafer. In order to provide elements for reflection on how Mathematics can be itself a language to compete in a sound education, we developed, in a dialogical and problematizing method applied to the technological and cultural world, one further research and teaching with Math students of UNEMAT in Barra do Bugres. This study pointed to the feasibility of educating consciences capable of of improving their acoustic environment, modifying the landscapes where we live, under our responsibility.

Applications of Linear Programming to Coding Theory

Maximum-likelihood decoding is often the optimal decoding rule one can use, but it is very costly to implement in a general setting. Much effort has therefore been dedicated to find efficient decoding algorithms that either achieve or approximate the error-correcting performance of the maximum-likelihood decoder. This dissertation examines two approaches to this problem. In 2003 Feldman and his collaborators defined the linear programming decoder, which operates by solving a linear programming relaxation of the maximum-likelihood decoding problem. As with many modern decoding algorithms, is possible for the linear programming decoder to output vectors that do not correspond to codewords; such vectors are known as pseudocodewords. In this work, we completely classify the set of linear programming pseudocodewords for the family of cycle codes. For the case of the binary symmetric channel, another approximation of maximum-likelihood decoding was introduced by Omura in 1972. This decoder employs an iterative algorithm whose behavior closely mimics that of the simplex algorithm. We generalize Omura's decoder to operate on any binary-input memoryless channel, thus obtaining a soft-decision decoding algorithm. Further, we prove that the probability of the generalized algorithm returning the maximum-likelihood codeword approaches 1 as the number of iterations goes to infinity.

Unique Alterations of an Ultraconserved Non-Coding Element in the 3 ' UTR of ZIC2 in Holoprosencephaly

Coding region alterations of ZIC2 are the second most common type of mutation in holoprosencephaly (HPE). Here we use several complementary bioinformatic approaches to identify ultraconserved cis-regulatory sequences potentially driving the expression of human ZIC2. We demonstrate that an 804 bp element in the 3' untranslated region (3'UTR) is highly conserved across the evolutionary history of vertebrates from fish to humans. Furthermore, we show that while genetic variation of this element is unexpectedly common among holoprosencephaly subjects (6/528 or >1%), it is not present in control individuals. Two of six proband-unique variants are de novo, supporting their pathogenic involvement in HPE outcomes. These findings support a general recommendation that the identification and analysis of key ultraconserved elements should be incorporated into the genetic risk assessment of holoprosencephaly cases.