Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.

PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. METHODS: Eleven affected patients were ascertained for phenotypic and genotypic characterization. Ophthalmologic evaluations included color vision testing, Goldmann perimetry, and digital fundus photography. Some patients had autofluorescence imaging, Optical Coherence Tomography, and ISCEV-standard full-field electroretinography. All affected patients had genetic testing. RESULTS: The age of onset of night blindness and the severity of the progression of the disease varied between members of the family. Some patients reported early onset of night blindness at age three, with subsequent severe deterioration of visual acuity, which was 0.4 in the best eye after their fifties. The second group of patients had a later onset of night blindness, in the mid-twenties, with a milder disease progression and a visual acuity of 0.8 at age 70. Fundus autofluorescence imaging and electrophysiological and visual field abnormalities also showed some degree of varying phenotypes. The autofluorescence imaging showed a large high-density ring bilaterally. Myopia (range: -0.75 to -8) was found in 10/11 affected subjects. Fundus findings showed areas of atrophy along the arcades. A T494M change was found in exon 11 of the PRPF3 gene. The change segregates with the disease in the family. CONCLUSIONS: A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa (ADRP). Although a T494M change has been reported, the family in our study is the first with variable expressivity. Mutations in the PRPF3 gene can cause a variable ADRP phenotype, unlike in the previously described Danish, English, and Japanese families. Our report, based on one of the largest affected pedigree, provides a better understanding as to the phenotype/genotype description of ADRP caused by a PRPF3 mutation.

Building digital libraries in developing countries

Digital libraries (DL) are seen as the hope for developing countries in their struggle to access scientific and academic publications. However, building such libraries in developing countries is a real challenge. These countries usually face several difficulties, such as low computer and Internet penetration rates, poor ICT infrastructure, lack of qualified human resources, lack of financial resources, etc. Thus, it is imperative finding alternative mechanisms of building DL that best fit the specificities of these countries. This paper presents the process used for building a digital library at the University Jean Piaget of Cape Verde, created in a context of scarce access to printed materials and serious difficulties in accessing ICT resources. This paper also presents the challenges, the solutions and the adopted methodological framework.

Using Digital and Traditional Libraries in Developing Countries

Given the existing challenges in accessing print-based publications in developing countries, digital libraries are seen as a good alternative. Thus, it is important to understand how such libraries are used in these contexts, especially when compared with the usage of traditional libraries. This paper analyzes and compares the usage of the digital and traditional libraries of the University Jean Piaget of Cape Verde, aiming at understanding the way they are used, and the relation between the access to the existing information resources in these two libraries.

A Regulação da Comunicação Social em Cabo Verde na Era Digital

Com a perspetiva da implementação de uma Autoridade Reguladora para a Comunicação Social em Cabo Verde que terá poderes de emitir normas, assegurar a sua aplicação, fiscalizar e reprimir eventuais infrações, esta dissertação propõe fazer uma abordagem das representações dos atores envolvidos, da importância e da afirmação da primeira entidade administrativa com autoridade para assegurar o processo de hétero regulação dos meios de comunicação social, no quadro da expansão digital. Os avanços tecnológicos nas últimas décadas mudaram a estruturação dos meios de comunicação social, um pouco por todo mundo, incluindo Cabo Verde. Neste país, o processo de adesão por parte dos media tem sido lento na busca de uma melhor alternativa para lidar com as plataformas digitais. Com o advento da Internet, a radiodifusão por satélite e a Sociedade da Informação, os meios tradicionais como a imprensa escrita e a radiodifusão – ainda sujeitos a um estreito controlo de conteúdos - despoletaram dúvidas e incertezas quanto à forma mais apropriada de regular a comunicação social, já que não podem ser tão facilmente controlados. Este estudo pretende também identificar a melhor estratégia de regulação dos media em Cabo Verde no contexto da sua migração para o digital, na medida em que se existir uma estrutura reguladora forte, que acompanhe os princípios fundamentais da regulação, será possível responder eficazmente às solicitações da atual mudança, garantindo o difícil equilíbrio entre eles.

Projecto de Simulação: Empresa Digital Tech

Em contexto de simulação, utilizando a plataforma Marketplace, foram colocados oito grupos, simulando serem empresas, a trabalhar num ambiente virtual de mercado. Neste, teriam de actuar como empresas produtoras e comercializadoras de computadores, exercendo todas as actividades de uma empresa real. O objectivo era avaliar o desempenho de cada grupo/empresa, vencendo quem tivesse o melhor Balanced Scorecard acumulado. O presente relatório refere-se a uma dessas empresas, nomeadamente, a Digital Tech. Abstract As a simulation, using the Marketplace Platform, eight groups were placed as companies operating in a virtual market. They would act as companies that produce and sell computers employing all the roles of a real company. The goal was to evaluate each group/company, to determine the winner with the best Accumulated Balanced Scorecard. This report is about one of these companies, The Digital Tech

Noninvasive characterization of the fission yeast cell cycle by monitoring dry mass with digital holographic microscopy.

Digital holography microscopy (DHM) is an optical technique which provides phase images yielding quantitative information about cell structure and cellular dynamics. Furthermore, the quantitative phase images allow the derivation of other parameters, including dry mass production, density, and spatial distribution. We have applied DHM to study the dry mass production rate and the dry mass surface density in wild-type and mutant fission yeast cells. Our study demonstrates the applicability of DHM as a tool for label-free quantitative analysis of the cell cycle and opens the possibility for its use in high-throughput screening.

Sustainability of the Peruvian anchoveta supply chains from sea to shelf: towards a new strategy for optimal use of resources

The research performed a sustainability assessment of supply chains of the anchoveta (Engraulis ringens) in Peru. The corresponding fisheries lands 6.5 million t per year, of which <2% is rendered into products for direct human consumption (DHC) and 98% reduced into feed ingredients (fishmeal and fish oil, FMFO), for export. Several industries compete for the anchoveta resources, generating local and global impacts. The need for understanding these dynamics, towards sustainability-improving management and policy recommendations, determined the development of a sustainability assessment framework: 1) characterisation and modelling of the systems under study (with Life Cycle Assessment and other tools) including local aquaculture, 2) calculation of sustainability indicators (i.e. energy efficiency, nutritional value, socio-economic performances), and 3) sustainability comparison of supply chains; definition and comparison of alternative exploitation scenarios. Future exploitation scenarios were defined by combining an ecosystem and a material flow models: continuation of the status quo (Scenario 1), shift towards increased proportion of DHC production (Scenario 2), and radical reduction of the anchoveta harvest in order for other fish stocks to recover and be exploited for DHC (Scenario 3). Scenario 2 was identified as the most sustainable. Management and policy recommendations include improving of: controls for compliance with management measures, sanitary conditions for DHC, landing infrastructure for small- and medium-scale (SMS) fisheries; the development of a national refrigerated distribution chain; and the assignation of flexible tolerances for discards from different DHC processes.

Canakinumab for the treatment of acute flares in difficult-to-treat gouty arthritis: Results of a multicenter, phase II, dose-ranging study.

OBJECTIVE: To assess the efficacy and tolerability of canakinumab, a fully human anti-interleukin-1β monoclonal antibody, for the treatment of acute gouty arthritis. METHODS: In this 8-week, single-blind, double-dummy, dose-ranging study, patients with acute gouty arthritis whose disease was refractory to or who had contraindications to nonsteroidal antiinflammatory drugs and/or colchicine were randomized to receive a single subcutaneous dose of canakinumab (10, 25, 50, 90, or 150 mg; n = 143) or an intramuscular dose of triamcinolone acetonide (40 mg; n = 57). Patients assessed pain using a 100-mm visual analog scale. RESULTS: Seventy-two hours after treatment, a statistically significant dose response was observed for canakinumab. All canakinumab doses were associated with numerically less pain than triamcinolone acetonide; thus, a dose with equivalent efficacy to triamcinolone acetonide 72 hours after treatment could not be determined. The reduction from baseline in pain intensity with canakinumab 150 mg was greater than with triamcinolone acetonide 24, 48, and 72 hours after treatment (differences of -11.5 mm [P = 0.04], -18.2 mm [P = 0.002], and -19.2 mm [P < 0.001], respectively), and 4, 5, and 7 days after treatment (all P < 0.05). Canakinumab significantly reduced the risk of recurrent flares versus triamcinolone acetonide (P ≤ 0.01 for all doses) (relative risk reduction 94% for canakinumab 150 mg versus triamcinolone acetonide). The overall incidence of adverse events was similar for canakinumab (41%) and triamcinolone acetonide (42%); most were mild or moderate in severity. CONCLUSION: Our findings indicate that canakinumab 150 mg provides rapid and sustained pain relief in patients with acute gouty arthritis, and significantly reduces the risk of recurrent flares compared with triamcinolone acetonide.

Preservació digital al núvol

Ara que ja ningú qüestiona les publicacions digitals, l'accés obert o els repositoris de tipus institucional o temàtic, cal co-mençar a treballar en els temes de preservació. Som responsables d'assegurar l'accés i l'ús futurs dels documents digitals, hagin nascut en format digital o siguin fruit dels projectes de digitalització. En aquest article es parla sobre la preservació digital i els tipus de continguts, així com els conceptes, tipologies, costos i usos de l'anomenat «núvol». També es mostra un exemple de núvol privat, la preservació de tesis doctorals del TDX i es comenta una experiència de núvol públic, el DuraCloud.

Learning in Digital Media: the legacy of McLuhan and his Impact on Formal Education

This paper describes a bibliographic analysis of the vision of Marshal McLuhan and the vision adopted by diverse current authors regarding the use of new interactive learning technologies. The paper also analyzes the transformation that will have to take place in the formal surroundings of education in order to improve their social function. The main points of view and contributions made by diverse authors are discussed. It is important that all actors involved in the educational process take in consideration these contributions in order to be ready for future changes.

Usando um Jogo Digital na Sala de Aula do Ensino Fundamental: Visão dos Professores

A digital game was created as a resource for cognitive learning and afterwards it was used in primary schools in order to survey its active users. The methods used to recollect data were observation, in-depth interviews and focus groups. The main target of this study is to collect points of view of different primary school teachers. Conclusions show us how the group of study members perceive the use of digital games in the classroom.

Xarxa digital multimèdia de pantalles i kioscs interactius

Internet s’ha alçat en poc temps com el mitjà més utilitzat pels turistes per a planificar, organitzar i comprar un viatge, és per això que es proposa donar les mateixes facilitats en el destí. La Publicitat Dinàmica o “Digital Signage” és un nou servei de comunicació que consisteix en un conjunt de tecnologies i aplicacions informàtiques que permeten emetre missatges multimèdia i comunicar-se així d’una manera innovadora amb el públic objectiu de cada empresa, si s’afegeix un sistema independent, multimèdia i interactiu que pot utilitzar-se per a proporcionar informació i/o permetre la realització de transaccions es potencia al màxim el servei. D’aquesta manera es proposa crear una Xarxa Digital Multimèdia de Kioscs Interactius recolzats amb una pantalla de plasma per a la tecnologia Digital Signage. La ubicació escollida estratègicament és en un dels punts de major afluència turística, tal com l’entrada dels hotels. Així es tracta de crear circuits tancats en àrees geogràfiques on es troben els principals nuclis turístics de Mallorca. La possibilitat d’accedir a segments de població altament interessants per al producte o servei es multiplica al ser una manera fàcil, eficaç i altament suggestiva de promocionar el què es pretén. Un avantatge és la simplicitat de la infraestructura tecnològica que es necessita, el dispositiu mitjançant el qual es visualitzaran els missatges serà una pantalla de plasma convencional, i un terminal de punt de venda instal.lat en un lloc de pas. Cada mòdul està connectat a la xarxa ADSL mitjançant un servidor local a Internet. La connexió a la xarxa és imprescindible per a que el manteniment i actualització dels continguts es puguin efectuar remotament. L’objectiu principal d’aquest treball és estudiar la viabilitat de la implantació de la xarxa, mitjançant la realització d’un estudi de mercat on s’analitzen els grups claus per a la implantació: els hotelers, la indústria turística i el Govern Balear. S’identifiquen els beneficis que aportarà al nou servei i les repercussions que tendrà la seva instal.lació. Entre els resultats més destacats d’aquest estudi cal remarcar l’acceptació que ha tengut la idea entre els hotelers entrevistats i la resposta positiva de la indústria turística. Es reconeix: una millora de la imatge del sector, l’ús com a eina de promoció turística pel Govern, i la contribució a la sostenibilitat econòmica pel fet que augmenta la competitivitat de les empreses i això millora la qualitat del servei.

La Salut als diaris digitals, una qüestió de salut digital: les notícies de salut en els diaris digitals en llengua catalana: exploració i assaig metodològic per a l'anàlisi descriptiva

En l’actual context de la societat de la informació, les noves tecnologies de la comunicació i, específicament, el fenomen d’Internet, adquireixen una importància rellevant en tots els sectors socials i fan replantejar la comunicació de masses. Les característiques que ofereixen els mitjans digitals (multimedialitat, hipertextualitat, interactivitat) comporten una nova forma d’estructurar i llegir la informació. Així, capçaleres i periodistes s’han d’actualitzar en la producció de la informació i en la seva transmissió, i l’usuari ha d’aprendre noves formes de lectura per adaptar-se al nou paradigma comunicacional. D’altra banda, la societat del benestar en què vivim reclama cada cop més als mitjans de comunicació generals i també específicament als digitals que parlin de temes de salut. Aquests mitjans esdevenen fonts principals d’aquest tipus d’informació, després del metge, per a la gestió autònoma de la pròpia salut. És a partir d’aquesta convergència de mitjans digitals, periodisme i salut, de la necessitat d’explorar la situació actual i del desig d’aportar coneixements per a la millora de la pràctica professional del periodisme, que es desenvolupa el treball que es presenta en aquesta memòria. El projecte que es presenta és una anàlisi restrospectiva i descriptiva de les notícies de salut que es produeixen durant un mes als diaris digitals que publiquen en llengua catalana: El Periódico de Catalunya, l’Avui, i LaMalla.net.

A Motion compensated filtering approach to remove sunlight flicker in shallow water images

A common problem in video surveys in very shallow waters is the presence of strong light fluctuations, due to sun light refraction. Refracted sunlight casts fast moving patterns, which can significantly degrade the quality of the acquired data. Motivated by the growing need to improve the quality of shallow water imagery, we propose a method to remove sunlight patterns in video sequences. The method exploits the fact that video sequences allow several observations of the same area of the sea floor, over time. It is based on computing the image difference between a given reference frame and the temporal median of a registered set of neighboring images. A key observation is that this difference will have two components with separable spectral content. One is related to the illumination field (lower spatial frequencies) and the other to the registration error (higher frequencies). The illumination field, recovered by lowpass filtering, is used to correct the reference image. In addition to removing the sunflickering patterns, an important advantage of the approach is the ability to preserve the sharpness in corrected image, even in the presence of registration inaccuracies. The effectiveness of the method is illustrated in image sets acquired under strong camera motion containing non-rigid benthic structures. The results testify the good performance and generality of the approach

Estudio de la accesibilidad de los documentos cientificos en soporte digital

Resumen: El artículo analiza los problemas de accesibilidad que actualmente presentan los artículos científicos en soporte digital. El estudio se centra en los aspectos de facilidad de uso del contenido de los documentos digitales según la forma en que se publiquen, sin entrar en el estudio de los distintos sistemas de recuperación. Se analizan los dos formatos más utilizados para la publicación de artículos científicos en soporte digital: HTML y PDF, estudiando el desempeño lector en relación a la presencia de sumarios o de tablas internas o vinculadas. El estudio se ha realizado con dos colectivos: 30 sujetos ciegos, usuarios de Jaws, contactados gracias a la mediación de la Fundación ONCE, y 30 sujetos no ciegos, profesores del Departamento de Biblioteconomía y Documentación de la Universidad de Barcelona. El estudio muestra que la localización de los datos contenidos en tablas se ve facilitada en documentos HTML por la inclusión de un sumario que vincule con la tabla, así como la inclusión de tablas completas en el cuerpo del documento HTML facilita la actividad lectora por parte de los usuarios ciegos. A nivel metodológico la presente investigación aporta dos novedades relevantes respecto a la literatura existente en los estudios de usabilidad con ciegos: estudia la usabilidad del formato PDF y es un test de usabilidad cuantitativo; este último hecho dificulta su comparación con la mayoría de artículos publicados. Abstract: This paper analyses the problems of accessibility posed by scientific articles published in digital format, focusing on the ease of use of their content with respect to the form in which they are published (irrespective of the recovery system). The two most widely used formats for the publication of scientific articles in digital format, HTML and PDF, are analysed, examining reader performance in relation to the presence of contents lists or internal or linked tables. The study involved two groups: 30 blind subjects, all JAWS users, contacted through the ONCE Foundation, and 30 sighted subjects, lecturers in the Department of Librarianship and Documentation of the University of Barcelona. The results shows the location of data in tables is easier in HTML documents through the inclusion of a contents list linked to these tables. Further, the inclusion of complete tables in the body of HTML document facilitates the reading activity of blind users. At the methodological level, this work reports two novelties with respect to the existing literature on usability by blind people: it examines the usability of the PDF format, and discusses a quantitative usability test. The latter hinders comparison with the majority of published articles.