Open reading frame expressed sequences tags (ORESTES) differ from conventional ESTs by providing sequence data from the central protein coding portion of transcripts. We generated a total of 696,745 ORESTES sequences from 24 human tissues and used a subset of the data that correspond to a set of 15,095 full-length mRNAs as a means of assessing the efficiency of the strategy and its potential contribution to the definition of the human transcriptome. We estimate that ORESTES sampled over 80% of all highly and moderately expressed, and between 40% and 50% of rarely expressed, human genes. In our most thoroughly sequenced tissue, the breast, the 130,000 ORESTES generated are derived from transcripts from an estimated 70% of all genes expressed in that tissue, with an equally efficient representation of both highly and poorly expressed genes. In this respect, we find that the capacity of the ORESTES strategy both for gene discovery and shotgun transcript sequence generation significantly exceeds that of conventional ESTs. The distribution of ORESTES is such that many human transcripts are now represented by a scaffold of partial sequences distributed along the length of each gene product. The experimental joining of the scaffold components, by reverse transcription–PCR, represents a direct route to transcript finishing that may represent a useful alternative to full-length cDNA cloning.

ResumoAdoecer de câncer produz impacto emocional no paciente e família ameaçando a saúde mental de ambos. Sabendo-se da importância familiar no tratamento do paciente, o estudo objetivou compreender como a família se organiza para lidar com a doença e o doente, e, assim, contribuir para o conhecimento dessa realidade na perspectiva da terapia familiar. A pesquisa analisou, utilizando-se da teoria sistêmica estrutural, o padrão de interação nos grupos familiares de pacientes, identificou as mudanças em sua organização e no funcionamento após o adoecimento. A amostra foi de 83 pacientes em tratamento no Hospital de Câncer de Pernambuco, e o período da coleta de dados foi de julho a agosto de 2009. Trata-se de um estudo qualitativo, os dados obtidos de entrevistas foram analisados seguindo a técnica de análise de conteúdo. Os resultados revelaram mudanças na organização familiar após o adoecimento e tratamento. Como conclusão, percebe-se que os familiares apresentaram flexibilidade para mudar de papéis para cumprir as tarefas do cotidiano, cuidar do paciente, e se organizam tendo como foco fornecer apoio e proteção a seus membros e ao paciente, confirmando a importância da flexibilidade e do apoio familiar para a resolução de problemas e como estratégia em prol da saúde mental.Palavras-chave: Família, Funcionamento, Câncer.* Mestra e doutoranda em saúde materno-infantil, psicóloga, especialista em Psicologia Hospitalar, docente nos cursos de graduação em Psicologia

MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-regulated molecule in cultured trabecular meshwork (TM) cells after treatment with dexamethasone and was originally referred to as trabecular meshwork-inducible glucocorticoid response (TIGR). Elevated intraocular pressure (IOP), due to decreased aqueous outflow, is the strongest known risk factor for POAG. Increasing evidence showed that the modulation of the wild-type (wt) myocilin protein expression is not causative of glaucoma while some misfolded and self-assembly aggregates of mutated myocilin may be associated with POAG in related or unrelated populations. The etiology of the disease remains unclear. Consequently, a better understanding of the molecular mechanisms underlyingPOAG is required to obtain early diagnosis, avoid potential disease progression, and develop new therapeutic strategies. In the present study, we review and discuss the most relevant studies regarding structural characterizations, expressions, molecular interactions, putative functions of MYOC gene and/or its corresponding protein in POAG etiology.

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BackgroundPrimary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300).MethodsGenotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1).ResultsThe overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05).ConclusionsThe present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.

A Representação da violência em adolescentes de escolas da rede pública de ensino do Município do Jaboatão dos Guararapes.Manifestatations of violence in adolescents in public schools in the municipality of Jaboatão dos Guararapes. Resumo

Objectives: to analyze the frequency of anxiety, stress and depression in Brazilians during the COVID-19 pandemic period. Methods: cross-sectional study conducted with Brazilians during the COVID-19 pandemic. Data collection was performed via an online electronic form containing self-reported sociodemographic and mental health variables using the Depression, Anxiety and Stress Scale (DASS-21) using the snow-ball sampling technique. For the whole study, a significance level of 0.05 was considered, except for the application of the stepwise method, which considered a level of 0.2. Results: 1,775 people responded the survey, mostly women (78.07%), white (58.13%), single (45.78%), currently working (63.74%). 32.03% received psychotherapy or some type of emotional support before the pandemic, 19.03% had some psychiatric diagnosis and 8.49% started some support after the beginning of the pandemic. The mean scores investigated by the DASS-21 scale were 5.53869 for depression, 4.467334 for anxiety and 8.221202 for stress. Conclusions: during the COVID-19 pandemic, sociodemographic and mental health characteristics were mapped and in Brazilians and the symptoms of anxiety, depression and stress were identified mainly in women, single people, who did not currently work and already had some previous mental health symptom.

Resumo Os papeis femininos e masculinos na sociedade brasileira passaram a ser questionados e modificados, afetando a família e revelando problemáticas que demandam atenção, apesar da suposta igualdade entre os sexos alcançados na sociedade contemporânea. O estudo é de abordagem qualitativa, utilizou-se entrevistas e a análise temática de conteúdo. Participaram adolescentes entre 14 e 16 anos. Foi possível observar que as interações e socialização ocorrida dentro do âmbito familiar ainda funciona como mecanismo de imposição e reforço de papeis “naturalizados” como femininos e masculinos, contribuindo para a persistência das condições sociais de desigualdade. Diante desse contexto, recomenda-se práticas de educação continuada nas escolas, sociedades e através de políticas públicas voltadas para facilitar o processo de ressignificação dos papeis de gênero na atualidade.