RESUMEN
Solid papillary carcinoma with reverse polarity is a rare breast cancer of favorable prognosis that can be difficult to diagnose. We report here nine additional cases of this tumor, and we describe its morphologic, immunohistochemical and molecular profile in comparison to other types of papillary and micropapillary lesions of the breast that are intraductal papilloma with usual ductal hyperplasia, encapsulated papillary carcinoma, solid papillary carcinoma and invasive micropapillary carcinoma. We studied nine cases of this special papillary tumor and six of each other types mentioned above. We found that solid papillary carcinoma with reverse polarity harbor specific morphologic features as cuboid or tall cells with abundant eosinophilic cytoplasms located at the basal pole giving the impression of reverse nuclear polarity. Nuclei were sometimes grooved. Immunohistochemistry demonstrated the lack of myoepithelial cells, as in encapsulated papillary carcinoma and solid papillary carcinoma, questioning their invasive nature. Seven of nine solid papillary carcinoma with reverse polarity showed a low Ki67 proliferative index (Ki67 <5%). They showed expression of CK5/6 as in intraductal papilloma with usual ductal hyperplasia. They showed expression of calretinin and a low or lack of hormonal receptor (HR) expression that were not observed in other breast tumors studied. By whole-exome analysis, seven of nine solid papillary carcinomas with reverse polarity (78%) harbored a hotspot mutation in IDH2 (R172) that was totally absent in other groups. Six of nine tumors (67%) also harbored PRUNE2 mutation, including the two IDH2 wild-type cases. We also demonstrated for the first time in this breast tumor, immunostaining with a specific antibody IDH1/2 mutant R132/R172 (7/9) that can highlight IDH2 mutation. Moreover, transcriptomic analysis showed that proteoglycan pathway was significantly enriched. Our findings support the fact that solid papillary carcinoma with reverse polarity is a singular breast neoplasm that can be distinguished from other papillary breast tumors.
Asunto(s)
Neoplasias de la Mama/patología , Carcinoma Papilar/patología , Isocitrato Deshidrogenasa/genética , Mutación , Anciano , Biomarcadores de Tumor , Mama/metabolismo , Mama/patología , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Carcinoma Papilar/genética , Carcinoma Papilar/metabolismo , Proliferación Celular , Femenino , Perfilación de la Expresión Génica , Humanos , Inmunohistoquímica , Isocitrato Deshidrogenasa/metabolismo , Persona de Mediana EdadRESUMEN
Although the environmental impacts of metal atmospheric emissions from point sources such as smelter have been extensively studied, very few studies have attempted to understand the influence of those emissions on nutrient cycles in the surrounding forests. This study investigates nutrient variations in space and time along with trace metals by statistical analysis of tree-ring series combined with the characterization of element concentrations in soil horizons. The research focuses on the Horne smelter (Rouyn Noranda, Québec, Canada), because it released high atmospheric emissions of metals and gases between 1928 and 1990s. Tree-ring Sr/Mn ratios, and Mn and Sr z-score series reveal that surface soil pH recovered progressively within the 45 km footprint of the smelter since the end of acidic deposition in the late 1970s. The influence of acidic deposition on the current soil pH has become negligible. In other words, element bioavailability and root assimilation have changed through time due to soil acidification at proximal sites. The detrended tree-ring elemental series during the last century also suggest that summer temperatures partly control the elemental bioavailability to trees in soils. Moreover, tree-ring Zn and Mg series appear as key environmental indicators of metal deposition from the smelter. This research confirms previous findings indicating that elemental concentrations in black and white spruce trees may be used to evaluate the potential influence of smelter emissions on nutrient cycles. For a future informed and adaptive management of forests, understanding the potential modifications of nutrient regimes caused by anthropogenic contaminations is critical, especially in the context of global warming.
Asunto(s)
Contaminantes del Suelo , Suelo , Canadá , Monitoreo del Ambiente , Bosques , Quebec , Contaminantes del Suelo/análisisRESUMEN
Illumination changes cause serious problems in many computer vision applications. We present a new method for addressing robust depth estimation from a stereo pair under varying illumination conditions. First, a spatially varying multiplicative model is developed to account for brightness changes induced between left and right views. The depth estimation problem, based on this model, is then formulated as a constrained optimization problem in which an appropriate convex objective function is minimized under various convex constraints modelling prior knowledge and observed information. The resulting multiconstrained optimization problem is finally solved via a parallel block iterative algorithm which offers great flexibility in the incorporation of several constraints. Experimental results on both synthetic and real stereo pairs demonstrate the good performance of our method to efficiently recover depth and illumination variation fields, simultaneously.
RESUMEN
Alternative splicing is altered in myotonic dystrophy of type 1 (DM1), a syndrome caused by an increase of CTG triplet repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Previously, we reported the preferential skipping of Tau exon 2 in DM1 brains. In this study, we analyze the alternative splicing of Tau exon 6 which can be inserted in three different forms (c, p and d) depending on the 3' splice site used. In fact, inclusion of exon 6c decreases in DM1 brains compared to control brains whereas inclusion of 6d increases. Alteration of exon 6 splicing was not observed in DM1 muscle although this exon was inserted in RNAs from normal muscle and DM1 splicing alterations were first described in this organ. In contrast, alteration of exon 2 of Tau mRNA was observed in both muscle and brain. However, co-transfections of a minigene containing exon 6 with CELF or MBNL1 cDNAs, two splicing factor families suspected to be involved in DM1, showed that they influence exon 6 splicing. Altogether, these results show the importance of determining all the exons and organs targeted by mis-splicing to determine the dysregulation mechanisms of mis-splicing in DM1.
Asunto(s)
Empalme Alternativo , Encéfalo/metabolismo , Exones , Distrofia Miotónica/genética , Proteínas del Tejido Nervioso/genética , Proteína delta de Unión al Potenciador CCAAT/metabolismo , Línea Celular , Humanos , Persona de Mediana Edad , Músculo Esquelético/metabolismo , Distrofia Miotónica/metabolismo , Proteína Quinasa de Distrofia Miotónica , Proteínas del Tejido Nervioso/metabolismo , Neuroglía/metabolismo , Neuronas/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Proteínas de Unión al ARN/metabolismo , Proteínas tauRESUMEN
We wanted to test the hypothesis that forest exposure to phytotoxic gases indirectly affects their carbon uptake. We estimated that the reduction of photosynthesis may have reached 20 to 30% at a site located 9 km (test site) from the Horne copper smelter in Rouyn-Noranda, which is a point source of SO2. Twenty-one spruce trees older than 100 yr were selected from seven sites at various distances from the smelter to evaluate conditions prior to and during the periods of smelter operation. The carbon isotope results obtained from spruce tree rings at our test site reveal an unprecedented and abrupt shift of +4/1000 after the onset of smelter operations. This large and permanent shift exceeds natural variations in regional pre-smelter series or in the series at a remote control site. All trees up to 116 km downwind from the smelter show delta13C positive shifts following the onset of operations. There is also a clear inverse relationship between the amplitude of the first-order trends and distance from the smelter. Those delta13C trends indicate that trees exposed to high levels of SO2 decrease their level of CO2 uptake through activation of stomatal closure. This is strongly supported by the significant departure of the Rouyn-Noranda trends from those measured for trees from non-industrialized areas of the Northern Hemisphere, or calculated using global atmospheric conditions. Considering the large number of SO2 point sources in North America, our results imply that CO2 uptake by the boreal forest in the vicinity of these sources may be lower than previously thought.
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Contaminantes Atmosféricos/análisis , Isótopos de Carbono/análisis , Dióxido de Azufre/análisis , Árboles/química , Celulosa/análisis , Exposición a Riesgos Ambientales/análisis , Humanos , Residuos Industriales/análisis , Árboles/fisiologíaRESUMEN
The aim of this paper is to present the first step of a new approach to make a map of radonprone areas showing different potential radon emission levels in the Quebec province. This map is a tool intended to assist the Quebec government in identifying populations with a higher risk of indoor radon gas exposure. This map of radon-prone areas used available radiogeochemical information for the province of Quebec: (1) Equivalent uranium (eU) concentration from airborne surface gamma-ray surveys; (2) uranium concentration measurements in sediments; and (3) bedrock and surficial geology. Positive proportion relationships (PPR) between each individual criterion and the 1417 available basement radon concentrations were demonstrated. It was also shown that those criteria were reliable indicators of radon-prone areas. The three criteria were discretized into 3, 2 and 2 statistically significant different classes respectively. For each class, statistical heterogeneity was validated by Kruskal-Wallis one way analyses of variance on ranks. Maps of radon-prone areas were traced down for each criterion. Based on this statistical study and on the maps of radon-prone areas in Quebec, 18% of the dwellings located in areas with an equivalent uranium (eU) concentration from airborne surface gamma-ray surveys under 0.75 ppm showed indoor radon concentrations above 150 Bq/m3. This percentage increases to 33% when eU concentrations are between 0.75 ppm and 1.25 ppm and exceeds 40% when eU concentrations are above 1.25 ppm. A uranium concentration in sediments above 20 ppm showed an indoor radon concentration geometric mean of 215 Bq/m3 with more than 69% of the dwellings exceeding 150 Bq/m3 or more than 50% of dwellings exceeding the Canadian radon guideline of 200 Bq/m3. It is also shown that the radon emission potential is higher where a uranium-rich bedrock unit is not covered by a low permeability (silt/clay) surficial deposit.