21 research outputs found

    Weddell Sea iceberg drift: Five years of observations

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    Since 1999, 52 icebergs have been tagged with GPS buoys in the Weddell Seato enable monitoring of their position. The chosen icebergs were of small tomedium size, with a few icebergs larger than 10 km associatedwith the calving of icebergs A38 and A43 from the Ronne Ice Shelf.The majority of icebergs were tagged off Neumayer Station (8E, 70S).It was found that smaller bergs with edges shorter than 200 m had the shortestlife cycle (< 0.5 yr). Iceberg and thus freshwater export out of theWeddell Sea was found to be highly variable. In one year the majority of buoysdeployed remained in the Weddell Sea, constituting about 40 % of the NCEP P-Efreshwater input, whereas in other years all of the tagged icebergs were exported.The observed drifts of icebergs and sea-ice showed a remarkably coherent motion.The analysis of an iceberg - sea-ice buoy array in the western Weddell Seaand an iceberg array in the eastern Weddell Sea showed a coherent sea-iceiceberg drift in sea-ice concentrations above 86 %. Dynamic kinematic parameter(DKP) during the course of coherent movement were low and deviations from the meancourse associated with the passage of low-pressure system. The length scale ofcoherent movement was estimated to be less than 250km; about half the value found forthe Arctic Ocean

    Pulmonale Manifestationen bei Patienten mit erworbenem Immunmangelsyndrom (AIDS)

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    Mülleneisen NK, Höffken G, Lode H, Lichey J, Krämer A. Pulmonale Manifestationen bei Patienten mit erworbenem Immunmangelsyndrom (AIDS). Atemwegs- und Lungenkrankheiten. Diagnostik und Therapie. 1986;12:386-389

    Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

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    The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing. The highest mutation prevalence was observed in the CHEK2 gene (2.5%), followed by ATM (1.5%) and PALB2 (1.2%). The mutation prevalence in each of the remaining genes was 0.3% or lower. Using Exome Aggregation Consortium control data, we confirm significant associations of heterozygous germ line mutations with BC for ATM (OR: 3.63, 95% CI: 2.67-4.94), CDH1 (OR: 17.04, 95% CI: 3.54-82), CHEK2 (OR: 2.93, 95% CI: 2.29-3.75), PALB2 (OR: 9.53, 95% CI: 6.25-14.51), and TP53 (OR: 7.30, 95% CI: 1.22-43.68). NBN germ line mutations were not significantly associated with BC risk (OR: 1.39, 95% CI: 0.73-2.64). Due to their low mutation prevalence, the RAD51C and RAD51D genes require further investigation. Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. Compared with the overall sample, only TP53 mutation carriers show a significantly younger age at first BC diagnosis. We demonstrate a significant association of deleterious variants in the CHEK2, PALB2, and TP53 genes with bilateral BC. Both, ATM and CHEK2, were negatively associated with triple-negative breast cancer (TNBC) and estrogen receptor (ER)-negative tumor phenotypes. A particularly high CHEK2 mutation prevalence (5.2%) was observed in patients with human epidermal growth factor receptor 2 (HER2)-positive tumors
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