Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Comparing de novo and reference-based transcriptome assembly strategies by applying them to the blood-sucking bug Rhodnius prolixus

High Throughput Sequencing capabilities have made the process of assembling a transcriptome easier, whether or not there is a reference genome. But the quality of a transcriptome assembly must be good enough to capture the most comprehensive catalog of transcripts and their variations, and to carry out further experiments on transcriptomics. There is currently no consensus on which of the many sequencing technologies and assembly tools are the most effective. Many non-model organisms lack a reference genome to guide the transcriptome assembly. One question, therefore, is whether or not a reference-based genome assembly gives better results than de novo assembly. The blood-sucking insect Rhodnius prolixus-a vector for Chagas disease-has a reference genome. It is therefore a good model on which to compare reference-based and de novo transcriptome assemblies. In this study, we compared de novo and reference-based genome assembly strategies using three datasets (454, Illumina, 454 combined with Illumina) and various assembly software. We developed criteria to compare the resulting assemblies: the size distribution and number of transcripts, the proportion of potentially chimeric transcripts, how complete the assembly was (completeness evaluated both through CEGMA software and R. prolixus proteome fraction retrieved). Moreover, we looked for the presence of two chemosensory gene families (Odorant-Binding Proteins and Chemosensory Proteins) to validate the assembly quality. The reference-based assemblies after genome annotation were clearly better than those generated using de novo strategies alone. Reference-based strategies revealed new transcripts, including new isoforms unpredicted by automatic genome annotation. However, a combination of both de novo and reference-based strategies gave the best result, and allowed us to assemble fragmented transcripts.

A escrita para percussão dos compositores do Grupo Música Nova: a busca pelo novo analisada a partir da notação

Pós-graduação em Música - IA

Análise dos precedentes judiciais a partir do projeto de novo Código de Processo Civil Brasileiro

Pós-graduação em Direito - FCHS

Determinação da relação de novo biomarcador (IMP3) no carcinoma de nasofaringe

Pós-graduação em Patologia - FMB

Linfoma de Hodgkin: características anátomo-clínicas e análise de novo biomarcador (IMP3)

Pós-graduação em Patologia - FMB

Novo regime automotivo brasileiro: desafios e oportunidades da região sul fluminense

Pós-graduação em Engenharia Mecânica - FEG

Produção de celulases por fungos filamentosos da Antártica: busca por novo recurso genético para obtenção de bioetanol

Na busca de novos recursos genéticos capazes de produzir enzimas celulolíticas a baixas/médias temperaturas, o continente Antártico vem demonstrando ser um ambiente bastante promissor. Neste contexto, o objetivo do presente trabalho foi avaliar a influência de diferentes fatores na produção de celulases por fungos filamentosos isolados de amostras da Antártica visando otimização do processo possível aplicação das mesmas na produção de etanol de segunda geração. Foram utilizados os fungos L1-1 e E5B da Central de Recursos Microbianos da UNESP (CRM-UNESP) os quais foram previamente selecionados devido ao potencial celulolítico. O delineamento experimental foi utilizado para analisar a influência de variáveis independentes na produção enzimática. A quantificação da celulase foi realizada pelo método do ácido dinitrosalicílico (ADNS). Antes de iniciar à aplicação dos planejamentos experimentais, foram adotadas estratégias para tentar minimizar e otimizar ao máximo o potencial dos isolados, as quais resultaram no estabelecimento da melhor agitação e a temperatura para a produção de celulase em 150 rpm e 20°C, para os dois isolados estudados. Inicialmente os fungos E5B e L1-1 apresentavam suas produções enzimáticas em 0,233U/mL e 0,342U/mL, respectivamente (antes da aplicação dos desenhos experimentais). Durante a condução do planejamento experimental do tipo Plackett&Burman(PB), foi verificada a preferência dos isolados pela fonte de carbono glicose, com efeito significativo na produção de celulases para os dois isolados. Tendo em vista o seu elevado custo comercial, foram realizados estudos com a sacarose, uma fonte de carbono alternativa e mais barata, bem como indutores enzimáticos. Após três planejamentos experimentais do tipo PB, foi selecionado o isolado L1-1 como o melhor produtor da enzima celulase. Após a condução de um quarto planejamento experimental do tipo Fatorial Fracionado 24-1, as...

Farmacocinética pré-clínica e avaliação toxicológica do novo composto α2-adrenérgico 3-(2-cloro-6-fluorobenzil)-imidazolidina-2,4-diona - PT-31 GIRSUPAN

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Vacinas contra Leishmaniose: uma revisão

Leishmania is a protozoan belonging to the family Trypanosomatidae, obligate intracellular parasite cells of the mononuclear phagocyte system. In the New and Old World several orders of wild mammals (natural reservoirs) and various species of sandflies (vectors) are involved in the transmission of leishmaniasis. The new settlements in rural areas, changes in the environment and unplanned urbanization increased human contact with vector and interaction with the animal reservoir. A simple prophylactic measure seems to be the vector control as well as disease reservoir. With the goal of raising the prophylactic measures that are being used in vector control, the reservoir of the disease and what the infrastructure accordingly. We conducted a literature review in July 2011 in the electronic databases of Bireme, Medline, CancerLit, Portal Capes, SciELO, PubMed and Medscape, the main texts on the subject. Thus, the development of a vaccine that is effective against various forms of leishmaniasis in the old and new world, it is necessary and has been recommended by WHO as a possible tool for effective eradication of the disease.

Physa mezzalirai: um novo gastrópode da formação Adamantina (Bacia Bauru), Cretáceo Superior, São Paulo, Brasil

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

Design de Relações entre tecnologias amigáveis e sociabilidades virtuais: um novo campo de investigação para o Design

The Digital Age, with its new interactive and converging technologies, stimulates original forms of sociability, which are interconnected, intercommunicating and virtualized through hyperscreens. Another kind of interaction arises from the digitization and new speeds of contemporary communicative process. With the new order of knowledge, it is now possible to transgress the limits of physical space and linear time sequence, through the collective development of content through such telematics networks. Youth gives voice to a new type of user, or a social actor, whose thinking is connected to other communication habits, consolidating singular cultural standards, demanding new languages and skills. Here, we address the nature of this Design of new relations, interactions, behaviors and social systems that emerge in the so called Information Society.

Gestão ambiental: um novo desafio para os profissionais de recursos humanos?

Current research analyzes the importance of human resources managers in organizational sustainability through the ack-nowledgement of the external variables and innovatory practices, such as environment management. In fact, the latter is a challenge for organizations and consequently for the human resources’ area. Investigation comprised a revision of the literature: theoretical and empirical articles that deal with the role of human resources’ mana-gement and on the environmental issue which is daily in the news. The essay is divided into three parts: the first section emphasizes the role of human resources’ managers; empirical evidences of the activities of HR managers in international contexts are dealt with in the second part; the third section deals with the environmental ma-nagement issue as a new challenge for HR managers. HR managers should acknowledge and incorporate in human resources practice the environmental dimension from the stages of recruitment, selec-tion and training. If people with attitudes and competences in the environment are rewarded, they will contribute towards an effective environmental management and, consequently, improvements in organizational results will materialize.

A importância da arte como meio de reciclagem e como formação de um novo pensamento ambiental

The question related to recyclable material has been pointed by environmental researchers as one of the most serious urban problems today. Therefore, the importance of disclosure and clarification related to recycling techniques is highlighted, as well as a critical and extensive reflection related to the cultural values of society about current economic rationality that prioritizes a unlimited consumerism. We conducted a survey in the city of Bauru and asked how often people separated recyclable materials for selective collection. We found that 18% of these people have never performed this type of activity. Thus we emphasize the importance of art in creating alternative ways of dealing with the recyclable material, that involves social, economic and cultural needs of a population; contributing to preserve the environment such as the creation of a new rationality.

Geração Y: característica de um novo ouvinte

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