345 research outputs found
Impacts of dust deposition on dissolved trace metal concentrations (Mn, Al and Fe) during a mesocosm experiment
The deposition of atmospheric dust is the primary process supplying trace elements abundant in crustal rocks (e.g. Al, Mn and Fe) to the surface ocean. Upon deposition, the residence time in surface waters for each of these elements differs according to their chemical speciation and biological utilization. Presently, however, the chemical and physical processes occurring after atmospheric deposition are poorly constrained, principally because of the difficulty in following natural dust events in situ. In the present work we examined the temporal changes in the biogeochemistry of crustal metals (in particular Al, Mn and Fe) after an artificial dust deposition event. The experiment was contained inside trace metal clean mesocosms (0–12.5 m depths) deployed in the surface waters of the northwestern Mediterranean, close to the coast of Corsica within the frame of the DUNE project (a DUst experiment in a low Nutrient, low chlorophyll Ecosystem). Two consecutive artificial dust deposition events, each mimicking a wet deposition of 10 g m−2 of dust, were performed during the course of this DUNE-2 experiment. The changes in dissolved manganese (Mn), iron (Fe) and aluminum (Al) concentrations were followed immediately after the seeding with dust and over the following week. The Mn, Fe and Al inventories and loss or dissolution rates were determined. The evolution of the inventories after the two consecutive additions of dust showed distinct behaviors for dissolved Mn, Al and Fe. Even though the mixing conditions differed from one seeding to the other, Mn and Al showed clear increases directly after both seedings due to dissolution processes. Three days after the dust additions, Al concentrations decreased as a consequence of scavenging on sinking particles. Al appeared to be highly affected by the concentrations of biogenic particles, with an order of magnitude difference in its loss rates related to the increase of biomass after the addition of dust. In the case of dissolved Fe, it appears that the first dust addition resulted in a decrease as it was scavenged by sinking dust particles, whereas the second seeding induced dissolution of Fe from the dust particles due to the excess Fe binding ligand concentrations present at that time. This difference, which might be related to a change in Fe binding ligand concentration in the mesocosms, highlights the complex processes that control the solubility of Fe. Based on the inventories at the mesocosm scale, the estimations of the fractional solubility of metals from dust particles in seawater were 1.44 ± 0.19% and 0.91 ± 0.83% for Al and 41 ± 9% and 27 ± 19% for Mn for the first and the second dust addition. These values are in good agreement with laboratory-based estimates. For Fe no fractional solubility was obtained after the first seeding, but 0.12 ± 0.03% was estimated after the second seeding. Overall, the trace metal dataset presented here makes a significant contribution to enhancing our knowledge on the processes influencing trace metal release from Saharan dust and the subsequent processes of bio-uptake and scavenging in a low nutrient, low chlorophyll are
P53 germline mutations in childhood cancers and cancer risk for carrier individuals
The family history of cancer in children treated for a solid malignant tumour in the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine the role of germline p53 mutations in genetic predisposition to childhood cancer, germline p53 mutations were sought in individuals with at least one relative (first- or second-degree relative or first cousin) affected by any cancer before 46 years of age, or affected by multiple cancers. Screening for germline p53 mutation was possible in 268 index cases among individuals fulfilling selection criteria. Seventeen (6.3%) mutations were identified, of which 13 were inherited and four were de novo. Using maximum likelihood methods that incorporate retrospective family data and correct for ascertainment bias, the lifetime risk of cancer for mutation carriers was estimated to be 73% for males and nearly 100% for females with a high risk of breast cancer accounting for the difference. The risk of cancer associated with such mutations is very high and no evidence of low penetrance mutation was found. These mutations are frequently inherited but de novo mutations are not rare. © 2000 Cancer Research Campaig
Wet deposition in the remote western and central Mediterranean as a source of trace metals to surface seawater
Abstract. This study reports the only recent characterization of two contrasted wet deposition events collected during the PEACETIME (ProcEss studies at the Air–sEa Interface after dust deposition in the MEditerranean Sea) cruise in the open Mediterranean Sea (Med Sea) and their impact on trace metal (TM) marine stocks. Rain samples were analysed for Al, 12 TMs (Co, Cd, Cr, Cu, Fe, Mn, Mo, Ni, Pb, Ti, V and Zn) and nutrient (N, P, dissolved organic carbon) concentrations. The first rain sample collected in the Ionian Sea (Rain ION) was a typical regional background wet deposition event, whereas the second rain sample collected in the Algerian Basin (Rain FAST) was a Saharan dust wet deposition event. Even in the remote Med Sea, all background TM inputs presented an anthropogenic signature, except for Fe, Mn and Ti. The concentrations of TMs in the two rain samples were significantly lower compared to concentrations in rains collected at coastal sites reported in the literature, due to the decrease in anthropogenic emissions during the preceding decades. The atmospheric TM inputs were mainly dissolved forms, even in dusty Rain FAST. The TM stocks in the mixed layer (ML, 0–20 m) at the FAST station before and after the event showed that the atmospheric inputs were a significant supply of particulate TMs and dissolved Fe and Co for surface seawater. Even if the wet deposition delivers TMs mainly in soluble form, the post-deposition aerosol dissolution could to be a key additional pathway in the supply of dissolved TMs. At the scale of the western and central Mediterranean, the atmospheric inputs were of the same order of magnitude as ML stocks for dissolved Fe, Co and Zn, highlighting the role of the atmosphere in their biogeochemical cycles in the stratified Med Sea. In case of intense dust-rich wet deposition events, the role of atmospheric inputs as an external source was extended to dissolved Co, Fe, Mn, Pb and Zn. Our results suggest that the wet deposition constitutes only a source of some of dissolved TMs for Med Sea surface waters. The contribution of dry deposition to the atmospheric TM inputs needs to be investigated.</jats:p
Association of MC1R Variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study
<p><b>Background</b> Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited.</p>
<p><b>Methods</b> We included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided.</p>
<p><b>Results</b> Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10−6 ≤ P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; Ptrend = 1.86 × 10−8). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 × 10−6 ≤ P ≤ .02).</p>
<p><b>Conclusion</b> Results show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.</p>
Decoding drivers of carbon flux attenuation in the oceanic biological pump
The biological pump supplies carbon to the oceans’ interior, driving long-term carbon sequestration and providing energy for deep-sea ecosystems1,2. Its efficiency is set by transformations of newly formed particles in the euphotic zone, followed by vertical flux attenuation via mesopelagic processes3. Depth attenuation of the particulate organic carbon (POC) flux is modulated by multiple processes involving zooplankton and/or microbes4,5. Nevertheless, it continues to be mainly parameterized using an empirically derived relationship, the ‘Martin curve’6. The derived power-law exponent is the standard metric used to compare flux attenuation patterns across oceanic provinces7,8. Here we present in situ experimental findings from C-RESPIRE9, a dual particle interceptor and incubator deployed at multiple mesopelagic depths, measuring microbially mediated POC flux attenuation. We find that across six contrasting oceanic regimes, representing a 30-fold range in POC flux, degradation by particle-attached microbes comprised 7–29 per cent of flux attenuation, implying a more influential role for zooplankton in flux attenuation. Microbial remineralization, normalized to POC flux, ranged by 20-fold across sites and depths, with the lowest rates at high POC fluxes. Vertical trends, of up to threefold changes, were linked to strong temperature gradients at low-latitude sites. In contrast, temperature played a lesser role at mid- and high-latitude sites, where vertical trends may be set jointly by particle biochemistry, fragmentation and microbial ecophysiology. This deconstruction of the Martin curve reveals the underpinning mechanisms that drive microbially mediated POC flux attenuation across oceanic provinces
Resupply of mesopelagic dissolved iron controlled by particulate iron composition
The dissolved iron supply controls half of the oceans’ primary productivity. Resupply by the remineralization of sinking particles, and subsequent vertical mixing, largely sustains this productivity. However, our understanding of the drivers of dissolved iron resupply, and their influence on its vertical distribution across the oceans, is still limited due to sparse observations. There is a lack of empirical evidence as to what controls the subsurface iron remineralization due to difficulties in studying mesopelagic biogeochemistry. Here we present estimates of particulate transformations to dissolved iron, concurrent oxygen consumption and iron-binding ligand replenishment based on in situ mesopelagic experiments. Dissolved iron regeneration efficiencies (that is, replenishment over oxygen consumption) were 10- to 100-fold higher in low-dust subantarctic waters relative to higher-dust Mediterranean sites. Regeneration efficiencies are heavily influenced by particle composition. Their make-up dictates ligand release, controls scavenging, modulates ballasting and may lead to the differential remineralization of biogenic versus lithogenic iron. At high-dust sites, these processes together increase the iron remineralization length scale. Modelling reveals that in oceanic regions near deserts, enhanced lithogenic fluxes deepen the ferricline, which alter the vertical patterns of dissolved iron replenishment, and set its redistribution at the global scale. Such wide-ranging regeneration efficiencies drive different vertical patterns in dissolved iron replenishment across oceanic provinces
Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma
BHD, TP53, and HNF1β on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1β mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype
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