Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Background DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective oxidative phosphorylation (OXPHOS). Many mutations map to the polymerase and exonuclease domains of the enzyme and produce a broad clinical spectrum. The most frequent mutation p.A467T is localised in the linker region between these domains. In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes. Methods mtDNA content in various tissues (fibroblasts, muscle and liver) was quantified using quantitative PCR (qPCR). OXPHOS activities in the same tissues were assessed using spectrophotometric methods and catalytic stain of BN-PAGE. Results We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome). These mutations result in a tissue specific depletion of the mtDNA which correlates with the OXPHOS-activities. Conclusions mtDNA depletion can be expressed in a high tissue-specific manner and confirms the need to analyse primary tissue. Furthermore, POLG analysis optimises clinical management in the early stages of disease and reinforces the need for its evaluation before starting valproic acid treatment.

Multicenter, double-blind, randomized, intraindividual crossover comparison of gadobenate dimeglumine and gadopentetate dimeglumine for Breast MR imaging (DETECT Trial)

To intraindividually compare 0.1 mmol/kg doses of gadobenate dimeglumine and gadopentetate dimeglumine for contrast material-enhanced breast magnetic resonance (MR) imaging by using a prospective, multicenter double-blind, randomized protocol.

Tierra y producción simbólica. Las condiciones materiales del patrimonio. En: Avá, nº 14

En este trabajo se analiza la genealogía de categorías utilizadas en el Convenio por el patrimonio mundial de la UNESCO, reflexionando sobre las consecuencias previstas o no de su aplicación. Asimismo, discutimos las implicaciones teóricas de su aplicación en el campo antropológico. Nuestro argumento se basa en la investigación, desarrollada a lo largo de la provincia de Salta y la Quebrada de Humahuaca. Nuestro enfoque nos lleva a considerar la cuestión patrimonial como un campo de disputa.

Roma, peligro para caminantes : La representación de una ciudad en estratos

El presente trabajo se constituye como una aproximación a Roma, peligro para caminantes (1968), el poemario de Rafael Alberti (1902-1999). Tomando como directriz analítica el orden de aparición de cada una de las secciones que conforman dicha obra, las presentes líneas nos dan una breve panorámica de sus configuraciones temáticas, de su estilo y de los diálogos que establece con otros autores, obras y estilos de la tradición literaria y artística en general: los sonetos romanescos de Giuseppe Gioachino Belli, la formas de versificación española, las cintas de Federico Fellini, etc

Roma, peligro para caminantes : La representación de una ciudad en estratos

El presente trabajo se constituye como una aproximación a Roma, peligro para caminantes (1968), el poemario de Rafael Alberti (1902-1999). Tomando como directriz analítica el orden de aparición de cada una de las secciones que conforman dicha obra, las presentes líneas nos dan una breve panorámica de sus configuraciones temáticas, de su estilo y de los diálogos que establece con otros autores, obras y estilos de la tradición literaria y artística en general: los sonetos romanescos de Giuseppe Gioachino Belli, la formas de versificación española, las cintas de Federico Fellini, etc

Roma, peligro para caminantes : La representación de una ciudad en estratos

El presente trabajo se constituye como una aproximación a Roma, peligro para caminantes (1968), el poemario de Rafael Alberti (1902-1999). Tomando como directriz analítica el orden de aparición de cada una de las secciones que conforman dicha obra, las presentes líneas nos dan una breve panorámica de sus configuraciones temáticas, de su estilo y de los diálogos que establece con otros autores, obras y estilos de la tradición literaria y artística en general: los sonetos romanescos de Giuseppe Gioachino Belli, la formas de versificación española, las cintas de Federico Fellini, etc

Topsoil properties and abundance of Acari and Collembola species in northern Victoria Land, Antarctica

Soil fauna in the extreme conditions of Antarctica consists of a few microinvertebrate species patchily distributed at different spatial scales. Populations of the prostigmatic mite Stereotydeus belli and the collembolan Gressittacantha terranova from northern Victoria Land (Antarctica) were used as models to study the effect of soil properties on microarthropod distributions. In agreement with the general assumption that the development and distribution of life in these ecosystems is mainly controlled by abiotic factors, we found that the probability of occurrence of S. belli depends on soil moisture and texture and on the sampling period (which affects the general availability of water); surprisingly, none of the analysed variables were significantly related to the G. terranova distribution. Based on our results and literature data, we propose a theoretical model that introduces biotic interactions among the major factors driving the local distribution of collembolans in Antarctic terrestrial ecosystems.

Natural and experimental oral infection of nonhuman primates by bovine spongiform encephalopathy agents

Experimental lemurs either were infected orally with the agent of bovine spongiform encephalopathy (BSE) or were maintained as uninfected control animals. Immunohistochemical examination for proteinase-resistant protein (prion protein or PrP) was performed on tissues from two infected but still asymptomatic lemurs, killed 5 months after infection, and from three uninfected control lemurs. Control tissues showed no staining, whereas PrP was detected in the infected animals in tonsil, gastrointestinal tract and associated lymphatic tissues, and spleen. In addition, PrP was detected in ventral and dorsal roots of the cervical spinal cord, and within the spinal cord PrP could be traced in nerve tracts as far as the cerebral cortex. Similar patterns of PrP immunoreactivity were seen in two symptomatic and 18 apparently healthy lemurs in three different French primate centers, all of which had been fed diets supplemented with a beef protein product manufactured by a British company that has since ceased to include beef in its veterinary nutritional products. This study of BSE-infected lemurs early in their incubation period extends previous pathogenesis studies of the distribution of infectivity and PrP in natural and experimental scrapie. The similarity of neuropathology and PrP immunostaining patterns in experimentally infected animals to those observed in both symptomatic and asymptomatic animals in primate centers suggests that BSE contamination of zoo animals may have been more widespread than is generally appreciated.

Estimação de imagens acústicas com arranjos de microfones.

Nas últimas décadas, a poluição sonora tornou-se um grande problema para a sociedade. É por esta razão que a indústria tem aumentado seus esforços para reduzir a emissão de ruído. Para fazer isso, é importante localizar quais partes das fontes sonoras são as que emitem maior energia acústica. Conhecer os pontos de emissão é necessário para ter o controle das mesmas e assim poder reduzir o impacto acústico-ambiental. Técnicas como \"beamforming\" e \"Near-Field Acoustic Holography\" (NAH) permitem a obtenção de imagens acústicas. Essas imagens são obtidas usando um arranjo de microfones localizado a uma distância relativa de uma fonte emissora de ruído. Uma vez adquiridos os dados experimentais pode-se obter a localização e magnitude dos principais pontos de emissão de ruído. Do mesmo modo, ajudam a localizar fontes aeroacústicas e vibro acústicas porque são ferramentas de propósito geral. Usualmente, estes tipos de fontes trabalham em diferentes faixas de frequência de emissão. Recentemente, foi desenvolvida a transformada de Kronecker para arranjos de microfones, a qual fornece uma redução significativa do custo computacional quando aplicada a diversos métodos de reconstrução de imagens, desde que os microfones estejam distribuídos em um arranjo separável. Este trabalho de mestrado propõe realizar medições com sinais reais, usando diversos algoritmos desenvolvidos anteriormente em uma tese de doutorado, quanto à qualidade do resultado obtido e à complexidade computacional, e o desenvolvimento de alternativas para tratamento de dados quando alguns microfones do arranjo apresentarem defeito. Para reduzir o impacto de falhas em microfones e manter a condição de que o arranjo seja separável, foi desenvolvida uma alternativa para utilizar os algoritmos rápidos, eliminando-se apenas os microfones com defeito, de maneira que os resultados finais serão obtidos levando-se em conta todos os microfones do arranjo.

Turkey, Middle East, and the South Caucasus, 1771 (Raster Image)

This layer is a georeferenced raster image of the historic paper map entitled: Turcia Asiatica : exhibens Natoliam modernam, in suos beglirbegatus divisam, itemque reliquos beglirbegatus, sive gubernationes et Prfecturas generales, in regionibus Georgiæ, Armeniæ, Mespotamiæ, Syriæ et Arabiæ sitos, una cum Mari Nigro, Mari Azowiensi, Mari di Marmora, et Mari Ægeo, atque adiacentibus Insulis : C. P. S. C. M. = Carte de la Turquie asiatique contenant la Natolie moderne divisée en les beglerbeys &c., ex novissimis subsidiis ac relationibus ad normam legitimae proiectionis in usum belli praesentis delineata impensis homannianorum heredum. It was published by Homannianorum Heredum in 1771. Scale [ca. 1:4,800,000]. Covers Turkey and portions of the Middle East and the South Caucasus. Map in Latin with title in French. The image inside the map neatline is georeferenced to the surface of the earth and fit to the World Miller Cylindrical projection. All map collar and inset information is also available as part of the raster image, including any inset maps, profiles, statistical tables, directories, text, illustrations, index maps, legends, or other information associated with the principal map. This map shows features such as drainage, cities and other human settlements, territorial and provincial boundaries, shoreline features, and more. Relief shown pictorially. This layer is part of a selection of digitally scanned and georeferenced historic maps from the Harvard Map Collection as part of the Open Collections Program at Harvard University project: Islamic Heritage Project. Maps selected for the project represent a range of regions, originators, ground condition dates, scales, and purposes. The Islamic Heritage Project consists of over 100,000 digitized pages from Harvard's collections of Islamic manuscripts and published materials. Supported by Prince Alwaleed Bin Talal and developed in association with the Prince Alwaleed Bin Talal Islamic Studies Program at Harvard University.

Turcia Asiatica: exhibens Natoliam modernam, in suos beglirbegatus divisam, itemque reliquos beglirbegatus, sive gubernationes et Prœfecturas generales, in regionibus Georgiæ, Armeniæ, Mespotamiæ, Syriæ et Arabiæ sitos, una cum Mari Nigro, Mari Azowiensi, Mari di Marmora, et Mari Ægeo, atque adiacentibus Insulis : C. P. S. C. M. = Carte de la Turquie asiatique contenant la Natolie moderne divisée en les beglerbeys &

ex novissimis subsidiis ac relationibus ad normam legitimae proiectionis in usum belli praesentis delineata impensis homannianorum heredum.