Search results for "Nada"
showing 10 items of 463 documents
BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
2012
OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…
Pathways to higher education for first and second generation immigrants in France, Switzerland and Canada: how educational tracks and aspirations mat…
2014
Despite their different histories as countries of immigration, Switzerland, France and Canada all have a sizeable immigrant population, some of which do experience obstacles in their educational and professional careers. However, both access rates of immigrant students as well as institutional routes to higher education vary remarkably between the three countries. On the one hand, France and Switzerland offer both academic and vocational routes to higher education, whereas academic routes prevail in Canada. On the other hand, immigrant students are underrepresented in Swiss and French higher education, while they generally seem to be much more successful in Canada. In this paper we wish to …
Ancient proteins resolve the evolutionary history of Darwin's South American ungulates.
2015
No large group of recently extinct placental mammals remains as evolutionarily cryptic as the approximately 280 genera grouped as 'South American native ungulates'. To Charles Darwin, who first collected their remains, they included perhaps the 'strangest animal[s] ever discovered'. Today, much like 180 years ago, it is no clearer whether they had one origin or several, arose before or after the Cretaceous/Palaeogene transition 66.2 million years ago, or are more likely to belong with the elephants and sirenians of superorder Afrotheria than with the euungulates (cattle, horses, and allies) of superorder Laurasiatheria. Morphology-based analyses have proved unconvincing because convergences…
Del "dachgärten" al "green roofscape" (1970-2005). Aportación a la historia reciente del paisaje urbano
2007
El urbanismo suele considerar el paisaje urbano a pie de calle. Pero el umbral vertical de la urbe, el paisaje urbano que se descubre desde lo alto de una torre o sobrevolando la ciudad, apenas preocupa a nadie. Una de las alternativas paisajísticas al interminable panorama mineral conformado por las ciudades difusas del siglo XXI se puede encontrar en las nuevas cubiertas ajardinadas y en las nuevas perspectivas verdes que se ofrezcan desde los tejados. En este artículo cito unas cuantas terrazas ajardinadas (en alemán, dachgárten o terrassengárten) pero, sobre todo, me fijo en algunos proyectos de urbanismo verde que aspiran a hacer realidad el paisaje verde de altura (en inglés, green ro…
Nos inventamos un mundo que no existía. Una profesión de riesgo: ser editora durante el franquismo
2021
Desde el final de la dictadura franquista, la censura editorial se ha constituido en un objeto de estudio interdisciplinar que, al inicial análisis de la constitución y entramado de la censura, incorpora el estudio de una casuística varia que redimensiona el fenómeno. Por un lado, en el contexto de los memory studies, cabe analizar qué efectos tuvo en la configuración de la memoria cultural. Por otro, tiene, además, una notable incidencia en la edición, por la autocensura y la contracensura. En concreto, este artículo explora la labor de algunas editoras que, en la Barcelona de los años sesenta y setenta, integraron una generación histórica opuesta al franquismo que lidió con la censura en …
Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, a…
2008
Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) in 2004. Objective To ensure that this consensus remains current. Methods In collaboration with the Canadian Network of Rare Blood Disorder Organizations, we held the second Canadian Consensus discussion with our international colleagues in Toronto, Ontario, on February 3, 2006, and reviewed its content at the Fifth C1 Inhibitor Deficiency Workshop in Budapest on June 2, 2007. Papers were presented by international investigators, and this consensus algorithm approach resulted. Results This consensus algorithm …
Relationship between erythemal UV and broadband solar irradiation at high altitude in Northwestern Argentina
2018
An analysis of the broadband solar irradiation, IT, and the erythemal UV irradiation, IUVER, has been performed using the measurements made from 2013 to 2015 at three sites located at altitudes over 1000 m a.s.l. In Northwestern Argentina (Salta, El Rosal, and Tolar Grande). The main objective of this paper is to determine a relationship between IT and IUVER, which would allow to estimate IUVER from IT in places with few IUVER measurements available, and especially in those where is important to establish adequate photoprotection measures given their dense population and location at high altitude. The relationship between the daily values of IUVER and IT has been fitted to a linear regressi…
Biotic recovery after the end-Triassic extinction event: Evidence from marine bivalves of the Neuquén Basin, Argentina
2017
We analyze the Late Triassic extinction and Early Jurassic recovery of bivalve faunas within marine environments in the Atuel River area of the Neuquén Basin, Argentina. Data were collected from a hundred samples with invertebrates in a well-exposed uppermost Triassic to lower Jurassic section in the Neuquén Basin (southern Mendoza Province, Argentina) and allow a high-resolution reconstruction of the local diversity dynamics. The nearly continuous presence of marine stenohaline major taxa such as cnidarians, rhynchonelliform brachiopods, echinoderms and cephalopods indicates normal salinity throughout. All bivalve species were identified, and each occurrence was recorded in meters above th…
Bioprospecting of Beneficial Bacteria Traits Associated With Tomato Root in Greenhouse Environment Reveals That Sampling Sites Impact More Than the R…
2021
Tomato is subject to several diseases that affect both field- and greenhouse-grown crops. To select cost-effective potential biocontrol agents, we used laboratory throughput screening to identify bacterial strains with versatile characteristics suitable for multipurpose uses. The natural diversity of tomato root–associated bacterial communities was bioprospected under a real-world environment represented by an intensive tomato cultivation area characterized by extraseasonal productions in the greenhouse. Approximately 400 tomato root–associated bacterial isolates, in majority Gram-negative bacteria, were isolated from three compartments: the soil close to the root surface (rhizosphere, R), …
Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis
2015
Objective Ankylosing spondylitis (AS) is a common, highly heritable immune-mediated arthropathy that occurs in genetically susceptible individuals exposed to an unknown but likely ubiquitous environmental trigger. There is a close relationship between the gut and spondyloarthritis, as exemplified in patients with reactive arthritis, in whom a typically self-limiting arthropathy follows either a gastrointestinal or urogenital infection. Microbial involvement in AS has been suggested; however, no definitive link has been established. The aim of this study was to determine whether the gut in patients with AS carries a distinct microbial signature compared with that in the gut of healthy contro…