Rare disease landscape in Brazil : report of a successful experience in inborn errors of metabolism

Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does not provide adequate coverage for genetic medical procedures. In 2014, SUS introduced the “Policy for the Integral Attention to Subjects with Rare Diseases”, establishing guidelines for offering diagnosis and treatment. The policy defines the two main axes, genetic and non-genetic rare diseases. In this fashion, public genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases. Unfortunately, up to now this policy is still depending on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center

Stafne's Defect with Buccal Cortical Expansion: A Case Report

A rare case of Stafne's bone cavity, type III-G, is reported in a 49-year-old male patient who had been referred to a private clinic for a routine evaluation. The final diagnosis was based on computed tomography. Scintigraphy played a fundamental role in determining the most likely etiology

O processo de organização e desenvolvimento das práticas pedagógicas de acesso ao currículo a alunos vinculados à educação especial nos anos finais do ensino fundamental

Este estudo analisou os processos de organização das práticas pedagógicas que contribuem para que alunos vinculados à educação especial de uma escola pública tenham acesso ao currículo, levando em consideração os diversos fatores implícitos que constituem o processo educativo. É uma pesquisa de abordagem qualitativa, de cunho histórico-cultural, orientada pela teoria de L. S. Vigotski. Essa abordagem visa o desenvolvimento humano e as relações sociais constituídas desempenham importante papel nesse processo. A produção de informações deu-se por meio de observação, entrevistas e levantamento documental, registrados em diário de campo, fotografias e gravação de vídeos. Participaram da pesquisa quatro professores de uma turma de 7º ano do ensino fundamental, uma professora bilíngue e uma profissional de apoio escolar – mediadoras que também atuam nessa mesma turma e desempenham suas funções de apoio pedagógico a dois alunos. Os resultados mostram que o processo de organização das práticas pedagógicas de acesso ao currículo tem relação direta com a formação de professores e as condições de trabalho docente. A intensificação e a flexibilização do trabalho docente são muito presentes no contexto pesquisado, no entanto, as tentativas de estabelecer relações na perspectiva colaborativa durante o processo de organização dessas práticas tem sido uma proposta reflexiva

Molecular Characterization of the Schistosoma mansoni Zinc Finger Protein SmZF1 as a Transcription Factor

Schistosomes are parasites that exhibit a complex life cycle during which they progress through many morphological and physiological transformations. These transformations are likely accompanied by alterations in gene expression, making genetic regulation important for parasite development. Here we describe a Schistosoma mansoni protein (SmZF1) that may act as a parasite transcription factor. These factors are key proteins for gene regulation. We have previously demonstrated that SmZF1 is able to bind DNA and that its mRNA is present at different stages during the parasite life cycle. In this study we aimed to define if this protein can function as a transcription factor in S. mansoni. SmZF1 was detected in the nucleus of adult male worms, cercariae and schistosomula cells. It was not, however, observed in female cells, suggesting it to be gender specific. We used mammalian cells expressing recombinant SmZF1 to analyze if SmZF1 protein is able to activate/repress gene transcription and demonstrated that it increased the expression of a reporter gene by two-fold. The results obtained confirm SmZF1 as a S. mansoni transcription factor

Virus-Host Coevolution: Common Patterns of Nucleotide Motif Usage in Flaviviridae and Their Hosts

Virus-host biological interaction is a continuous coevolutionary process involving both host immune system and viral escape mechanisms. Flaviviridae family is composed of fast evolving RNA viruses that infects vertebrate (mammals and birds) and/or invertebrate (ticks and mosquitoes) organisms. These host groups are very distinct life forms separated by a long evolutionary time, so lineage-specific anti-viral mechanisms are likely to have evolved. Flaviviridae viruses which infect a single host lineage would be subjected to specific host-induced pressures and, therefore, selected by them. In this work we compare the genomic evolutionary patterns of Flaviviridae viruses and their hosts in an attempt to uncover coevolutionary processes inducing common features in such disparate groups. Especially, we have analyzed dinucleotide and codon usage patterns in the coding regions of vertebrate and invertebrate organisms as well as in Flaviviridae viruses which specifically infect one or both host types. The two host groups possess very distinctive dinucleotide and codon usage patterns. A pronounced CpG under-representation was found in the vertebrate group, possibly induced by the methylation-deamination process, as well as a prominent TpA decrease. The invertebrate group displayed only a TpA frequency reduction bias. Flaviviridae viruses mimicked host nucleotide motif usage in a host-specific manner. Vertebrate-infecting viruses possessed under-representation of CpG and TpA, and insect-only viruses displayed only a TpA under-representation bias. Single-host Flaviviridae members which persistently infect mammals or insect hosts (Hepacivirus and insect-only Flavivirus, respectively) were found to posses a codon usage profile more similar to that of their hosts than to related Flaviviridae. We demonstrated that vertebrates and mosquitoes genomes are under very distinct lineage-specific constraints, and Flaviviridae viruses which specifically infect these lineages appear to be subject to the same evolutionary pressures that shaped their host coding regions, evidencing the lineage-specific coevolutionary processes between the viral and host groups