A avaliação das barreiras na actividade profissional da pessoa com deficiência visual em Portugal: validação e adaptação do WES (work experience survey)

Resumo: Este estudo tem como finalidade validar e adaptar o WES (Work Experience Survey), de forma a avaliar e caracterizar a percepção que as pessoas DV portuguesas possuem sobre as barreiras ao emprego e as suas formas de resolução e/ou minimização. Da revisão da literatura, constatou-se a inexistência, a nível nacional, de estudos que versassem sobre as barreiras no acesso e manutenção de emprego e estratégias de superação. Este motivo foi o ponto a partir do qual se elaborou a adaptação e validação do questionário WES e a partir do qual alcançamos resultados e conclusões que nos remetem para evidências que a seguir se descrevem. Os dados recolhidos demonstram que esta faixa da população: tem baixos níveis de escolaridade; necessita de aperfeiçoar as suas competências para se tornar mais competitiva no mercado de trabalho; tem dificuldades na acessibilidade ao meio físico, devido às condições de acessibilidade oferecidas; enfrenta problemas no desempenho laboral, devido à falta de tecnologias de apoio e de meios de superação das barreiras no local de trabalho; e sente-se discriminada no acesso e manutenção do emprego, e progressão na carreira. A exploração das razões do insucesso escolar e do perfil de competências adequado, exigíveis para o emprego; o desenvolvimento de planos de promoção da carreira; a divulgação das competências e capacidades dos trabalhadores DV e a averiguação na aplicação da legislação referente à acessibilidade são algumas sugestões apresentadas.

Book Review of Portraits of the Bison: An Illustrated Guide to Bison Society by Wes Olson

Thundering herds of bison have become synonymous with the pre-European colonization of the Great Plains. As such, they have captured the imagination of countless people, including Wes Olson, a 20-year warden for Parks Canada. Throughout Portraits of the Bison, based on both existing literature and the author's extensive experience observing and managing these animals, Olson's bison fascination is not only obvious but infectious. A remarkably talented artist as well, Olson's line drawings appear throughout the book, accompanied by Johane Janelle's photographs.

Goat industry in wes

Mode of access: Internet.

El discreto encanto de Wes Anderson

Este artículo hace parte de la revista Papel de colgadura de la Facultad de Derecho y Ciencias Sociales de la Universidad Icesi de Cali, es una publicación de difusión y agitación cultural. La revista nace de la pasión por la música, los libros, las ilustraciones, el graffiti, los cómics, la web, la fiesta, el cine, la cafeína y de las tardes de tertulia con empanadas y cerveza, que circula en versión impresa dos veces al año, pero su versión digital se actualiza con mayor frecuencia.

The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

Estudo do gene FOXE1 e identificação de novos genes de susceptibilidade para o cancro da tiróide familiar

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina

Estudo dos genes DICER1 e C8orf48 em formas familiares de bócio multinodular e cancro da tiróide

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina

Achieving better service level results, through improvements in procedures

This project aims to prepare Worten Empresas (WE) fulfilling the increasing market demand through process changings, focusing on the Portuguese market, particularly on internal B2B clients1. Several methods were used to measure the current service level provided - process mapping, resources assessment, benchmark and a survey. The results were then used to compare against service level actually desired by WE’s customer, and then to identify the performance gaps in response times and quality of the follow-up during the sales process. To bridge the identified gaps, both a set of recommendations and an implementation plan were suggested to improve and monitor customer experience. This study concluded that it is possible to fulfill the increasing level of demand and at the same time improve customer satisfaction by implementing changes at the operations level.

Mechanism of action of a nitroimidazole-thiadiazole derivate upon Trypanosoma cruzi tissue culture amastigotes

Megazol (CL 64,855) a very effective drug in experimental infections by Trypanosoma cruzi, and also in in vitro assays with vertebrate forms of the parasite, had its parasite, had its activity upon macromolecule biosynthesis tested using tissue culture-derived amastigote forms. Megazol presented a drastic inhibition of [3H]-uridine incorporation, suggesting a selective activity upon protein synthesis. Comparing the three drugs, megazol was more potent than nifurtimox and benznidazole in inhibiting protein an DNA synthesis. Megazol showed a 91% of inhibition of [3H]-leucine incorporation whereas nifurtimox and benznidazole, 0% and 2%, respectively. These latter two drugs inhibited the incorporation of all the precursors tested at similar levels, but the concentration of benznidazole was always three times higher, suggesting different mechanisms of action or, more probably, a greater efficiency of the 5-nitrofuran derivate in relation to the 2-nitroimidazole. So, wes conclude that the mode of action of megazol is different from the ones of nifurtimox and benznidazole and that its primary effect is associated with an impairment of protein synthesis.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

OBJECTIVE: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively. METHODS: A whole exome sequencing (WES) analysis was performed in 2 families segregating arRP. A mutational screening was performed in 378 additional unrelated families for the exon-intron boundaries of the ABHD12 gene. To establish a genotype-phenotype correlation, individuals who were homozygous or compound heterozygotes of mutations in ABHD12 underwent exhaustive clinical examinations by ophthalmologists, neurologists, and otologists. MAIN OUTCOME MEASURES: DNA sequence variants, best-corrected visual acuity, visual field assessments, electroretinogram responses, magnetic resonance imaging, and audiography. RESULTS: After a WES analysis, we identified 4 new mutations (p.Arg107Glufs*8, p.Trp159*, p.Arg186Pro, and p.Thr202Ile) in ABHD12 in 2 families (RP-1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease among the family members. Another homozygous mutation (p.His372Gln) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients. After exhaustive clinical examinations by neurologists and otologists, the 4 affected members of the RP-1292 had no polyneuropathy or ataxia, and the sensorineural hearing loss and cataract were attributed to age or the normal course of the RP, whereas the affected members of the families W08-1833 and RP-1487 showed clearly symptoms associated with polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract (PHARC) syndrome. CONCLUSIONS: Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. This is the first time missense mutations have been described for this gene. Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

BACKGROUND: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic mutations can occur in any of the 100 or more disease genes identified so far, making molecular diagnosis a rather laborious process. In this work we explored the use of whole exome sequencing (WES) as a tool for identification of RD mutations, with the aim of assessing its applicability in a diagnostic context. METHODOLOGY/PRINCIPAL FINDINGS: We ascertained 12 Spanish families with seemingly recessive RD. All of the index patients underwent mutational pre-screening by chip-based sequence hybridization and resulted to be negative for known RD mutations. With the exception of one pedigree, to simulate a standard diagnostic scenario we processed by WES only the DNA from the index patient of each family, followed by in silico data analysis. We successfully identified causative mutations in patients from 10 different families, which were later verified by Sanger sequencing and co-segregation analyses. Specifically, we detected pathogenic DNA variants (∼50% novel mutations) in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. CONCLUSIONS/SIGNIFICANCE: Despite the absence of genetic information from other family members that could help excluding nonpathogenic DNA variants, we could detect causative mutations in a variety of genes known to represent a wide spectrum of clinical phenotypes in 83% of the patients analyzed. Considering the constant drop in costs for human exome sequencing and the relative simplicity of the analyses made, this technique could represent a valuable tool for molecular diagnostics or genetic research, even in cases for which no genotypes from family members are available.