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2. The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

Author

De Geer, Karl, Löfgren, Stefan, Lindstrand, Anna, Kvarnung, Malin, and Björck, Erik

Subjects
*AGE of onset, *MOLECULAR diagnosis, *RETINAL degeneration, *GENETIC testing, *RETINAL diseases
Abstract

Purpose Methods Results Conclusion This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.Clinical and genetic data from 324 nonrelated IRD index individuals referred for genetic testing in the Stockholm region between 2016 and 2023 were collected retrospectively and analysed by clinical subtype, age of onset and testing period (2016–2020 vs. 2021–2023). Logistic regression was used to calculate odds ratios for age of onset and family history on the likelihood of achieving a molecular diagnosis.The diagnostic yield was 55% and involved 56 genes. In 10% of solved individuals, the molecular diagnosis refined the clinical diagnosis. For each 1‐year increase in age of onset, the odds of achieving a molecular diagnosis decreased by 3% (odds ratio 0.97, 95% confidence interval 0.96–0.98). A positive family history doubled the odds (odds ratio 2.1, 95% confidence interval 1.3–3.4). The use of genetic testing increased 2.1‐fold and the number of molecular diagnoses increased 1.6‐fold relative to the population of the Stockholm region between the two testing periods.This study adds to the knowledge of the clinical and genetic landscape of IRDs in Sweden and establishes age of onset and family history as significant predictors for achieving a molecular diagnosis. Increased genetic testing on a population level substantially increased the number of individuals receiving a molecular diagnosis with a high diagnostic yield compared to other rare diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Assessing critical load exceedances and ecosystem impacts of anthropogenic nitrogen and sulphur deposition at unmanaged forested catchments in Europe

Author

Forsius, Martin, Posch, Maximilian, Holmberg, Maria, Vuorenmaa, Jussi, Kleemola, Sirpa, Augustaitis, Algirdas, Beudert, Burkhard, Bochenek, Witold, Clarke, Nicholas, de Wit, Heleen A., Dirnböck, Thomas, Frey, Jane, Grandin, Ulf, Hakola, Hannele, Kobler, Johannes, Krám, Pavel, Lindroos, Antti-Jussi, Löfgren, Stefan, Pecka, Tomasz, Rönnback, Pernilla, Skotak, Krzysztof, Szpikowski, Józef, Ukonmaanaho, Liisa, Valinia, Salar, and Váňa, Milan

Published
2021
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11. Early stage litter decomposition across biomes

Author

Caliman, Adriano, Paquette, Alain, Gutiérrez-Girón, Alba, Humber, Alberto, Valdecantos, Alejandro, Petraglia, Alessandro, Alexander, Heather, Augustaitis, Algirdas, Saillard, Amélie, Fernández, Ana Carolina Ruiz, Sousa, Ana I., Lillebø, Ana I., da Rocha Gripp, Anderson, Francez, André-Jean, Fischer, Andrea, Bohner, Andreas, Malyshev, Andrey, Andrić, Andrijana, Smith, Andy, Stanisci, Angela, Seres, Anikó, Schmidt, Anja, Avila, Anna, Probst, Anne, Ouin, Annie, Khuroo, Anzar A., Verstraeten, Arne, Palabral-Aguilera, Arely N., Stefanski, Artur, Gaxiola, Aurora, Muys, Bart, Bosman, Bernard, Ahrends, Bernd, Parker, Bill, Sattler, Birgit, Yang, Bo, Juráni, Bohdan, Erschbamer, Brigitta, Ortiz, Carmen Eugenia Rodriguez, Christiansen, Casper T., Carol Adair, E., Meredieu, Céline, Mony, Cendrine, Nock, Charles A., Chen, Chi-Ling, Wang, Chiao-Ping, Baum, Christel, Rixen, Christian, Delire, Christine, Piscart, Christophe, Andrews, Christopher, Rebmann, Corinna, Branquinho, Cristina, Polyanskaya, Dana, Delgado, David Fuentes, Wundram, Dirk, Radeideh, Diyaa, Ordóñez-Regil, Eduardo, Crawford, Edward, Preda, Elena, Tropina, Elena, Groner, Elli, Lucot, Eric, Hornung, Erzsébet, Gacia, Esperança, Lévesque, Esther, Benedito, Evanilde, Davydov, Evgeny A., Ampoorter, Evy, Bolzan, Fabio Padilha, Varela, Felipe, Kristöfel, Ferdinand, Maestre, Fernando T., Maunoury-Danger, Florence, Hofhansl, Florian, Kitz, Florian, Sutter, Flurin, Cuesta, Francisco, de Almeida Lobo, Francisco, de Souza, Franco Leandro, Berninger, Frank, Zehetner, Franz, Wohlfahrt, Georg, Vourlitis, George, Carreño-Rocabado, Geovana, Arena, Gina, Pinha, Gisele Daiane, González, Grizelle, Canut, Guylaine, Lee, Hanna, Verbeeck, Hans, Auge, Harald, Pauli, Harald, Nacro, Hassan Bismarck, Bahamonde, Héctor A., Feldhaar, Heike, Jäger, Heinke, Serrano, Helena C., Verheyden, Hélène, Bruelheide, Helge, Meesenburg, Henning, Jungkunst, Hermann, Jactel, Hervé, Shibata, Hideaki, Kurokawa, Hiroko, Rosas, Hugo López, Rojas Villalobos, Hugo L., Yesilonis, Ian, Melece, Inara, Van Halder, Inge, Quirós, Inmaculada García, Makelele, Isaac, Senou, Issaka, Fekete, István, Mihal, Ivan, Ostonen, Ivika, Borovská, Jana, Roales, Javier, Shoqeir, Jawad, Lata, Jean-Christophe, Theurillat, Jean-Paul, Probst, Jean-Luc, Zimmerman, Jess, Vijayanathan, Jeyanny, Tang, Jianwu, Thompson, Jill, Doležal, Jiří, Sanchez-Cabeza, Joan-Albert, Merlet, Joël, Henschel, Joh, Neirynck, Johan, Knops, Johannes, Loehr, John, von Oppen, Jonathan, Þorláksdóttir, Jónína Sigríður, Löffler, Jörg, Cardoso-Mohedano, José-Gilberto, Benito-Alonso, José-Luis, Torezan, Jose Marcelo, Morina, Joseph C., Jiménez, Juan J., Quinde, Juan Dario, Alatalo, Juha, Seeber, Julia, Stadler, Jutta, Kriiska, Kaie, Coulibaly, Kalifa, Fukuzawa, Karibu, Szlavecz, Katalin, Gerhátová, Katarína, Lajtha, Kate, Käppeler, Kathrin, Jennings, Katie A., Tielbörger, Katja, Hoshizaki, Kazuhiko, Green, Ken, Yé, Lambiénou, Pazianoto, Laryssa Helena Ribeiro, Dienstbach, Laura, Williams, Laura, Yahdjian, Laura, Brigham, Laurel M., van den Brink, Liesbeth, Rustad, Lindsey, Zhang, Lipeng, Morillas, Lourdes, Xiankai, Lu, Carneiro, Luciana Silva, Di Martino, Luciano, Villar, Luis, Bader, Maaike Y., Morley, Madison, Lebouvier, Marc, Tomaselli, Marcello, Sternberg, Marcelo, Schaub, Marcus, Santos-Reis, Margarida, Glushkova, Maria, Torres, María Guadalupe Almazán, Giroux, Marie-Andrée, de Graaff, Marie-Anne, Pons, Marie-Noëlle, Bauters, Marijn, Mazón, Marina, Frenzel, Mark, Didion, Markus, Wagner, Markus, Hamid, Maroof, Lopes, Marta L., Apple, Martha, Schädler, Martin, Weih, Martin, Gualmini, Matteo, Vadeboncoeur, Matthew A., Bierbaumer, Michael, Danger, Michael, Liddell, Michael, Mirtl, Michael, Scherer-Lorenzen, Michael, Růžek, Michal, Carbognani, Michele, Di Musciano, Michele, Matsushita, Michinari, Zhiyanski, Miglena, Pușcaș, Mihai, Barna, Milan, Ataka, Mioko, Jiangming, Mo, Alsafran, Mohammed, Carnol, Monique, Barsoum, Nadia, Tokuchi, Naoko, Eisenhauer, Nico, Lecomte, Nicolas, Filippova, Nina, Hölzel, Norbert, Ferlian, Olga, Romero, Oscar, Pinto, Osvaldo B., Jr, Peri, Pablo, Weber, Paige, Vittoz, Pascal, Turtureanu, Pavel Dan, Fleischer, Peter, Macreadie, Peter, Haase, Peter, Reich, Peter, Petřík, Petr, Choler, Philippe, Marmonier, Pierre, Muriel, Priscilla, Ponette, Quentin, Guariento, Rafael Dettogni, Canessa, Rafaella, Kiese, Ralf, Hewitt, Rebecca, Rønn, Regin, Adrian, Rita, Kanka, Róbert, Weigel, Robert, Gatti, Roberto Cazzolla, Martins, Rodrigo Lemes, Georges, Romain, Meneses, Rosa Isela, Gavilán, Rosario G., Dasgupta, Sabyasachi, Wittlinger, Sally, Puijalon, Sara, Freda, Sarah, Suzuki, Satoshi, Charles, Sean, Gogo, Sébastien, Drollinger, Simon, Mereu, Simone, Wipf, Sonja, Trevathan-Tackett, Stacey, Löfgren, Stefan, Stoll, Stefan, Trogisch, Stefan, Hoeber, Stefanie, Seitz, Steffen, Glatzel, Stephan, Milton, Sue J., Dousset, Sylvie, Mori, Taiki, Sato, Takanori, Ise, Takeshi, Hishi, Takuo, Kenta, Tanaka, Nakaji, Tatsuro, Michelan, Thaisa Sala, Camboulive, Thierry, Mozdzer, Thomas J., Scholten, Thomas, Spiegelberger, Thomas, Zechmeister, Thomas, Kleinebecker, Till, Hiura, Tsutom, Enoki, Tsutomu, Ursu, Tudor-Mihai, di Cella, Umberto Morra, Hamer, Ute, Klaus, Valentin H., Rêgo, Vanessa Mendes, Di Cecco, Valter, Busch, Verena, Fontana, Veronika, Piscová, Veronika, Carbonell, Victoria, Ochoa, Victoria, Bretagnolle, Vincent, Maire, Vincent, Farjalla, Vinicius, Zhou, Wenjun, Luo, Wentao, McDowell, William H., Hu, Yalin, Utsumi, Yasuhiro, Kominami, Yuji, Zaika, Yulia, Rozhkov, Yury, Kotroczó, Zsolt, Tóth, Zsolt, Djukic, Ika, Kepfer-Rojas, Sebastian, Schmidt, Inger Kappel, Larsen, Klaus Steenberg, Beier, Claus, Berg, Björn, and Verheyen, Kris

Published
2018
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12. Long-term changes (1990–2015) in the atmospheric deposition and runoff water chemistry of sulphate, inorganic nitrogen and acidity for forested catchments in Europe in relation to changes in emissions and hydrometeorological conditions

Author

Vuorenmaa, Jussi, Augustaitis, Algirdas, Beudert, Burkhard, Bochenek, Witold, Clarke, Nicholas, de Wit, Heleen A., Dirnböck, Thomas, Frey, Jane, Hakola, Hannele, Kleemola, Sirpa, Kobler, Johannes, Krám, Pavel, Lindroos, Antti-Jussi, Lundin, Lars, Löfgren, Stefan, Marchetto, Aldo, Pecka, Tomasz, Schulte-Bisping, Hubert, Skotak, Krzysztof, Srybny, Anatoly, Szpikowski, Józef, Ukonmaanaho, Liisa, Váňa, Milan, Åkerblom, Staffan, and Forsius, Martin

Published
2018
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29. Impacts from Deposition on Swedish Forest Ecosystems Identified by Integrated Monitoring

Author

Lundin, Lars, Aastrup, Mats, Bringmark, Lage, Bråkenhielm, Sven, Hultberg, Hans, Johansson, Kjell, Kindbom, Karin, Kvarnäs, Hans, Löfgren, Stefan, Satake, Kenichi, editor, Shindo, Junko, editor, Takamatsu, Takejiro, editor, Nakano, Takanori, editor, Aoki, Shigeru, editor, Fukuyama, Tsutomu, editor, Hatakeyama, Shiro, editor, Ikuta, Kazukamasa, editor, Kawashima, Munetsugu, editor, Kohno, Yoshihisa, editor, Kojima, Satoru, editor, Murano, Kentaro, editor, Okita, Toshiichi, editor, Taoda, Hiroshi, editor, Tsunoda, Kinichi, editor, and Tsurumi, Makoto, editor

Published
2001
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34. Editorial

Author

Ring, Eva, Löfgren, Stefan, Bishop, Kevin, Laudon, Hjalmar, Högbom, Lars, and Kessler, Elisabeth

Published
2009
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42. Trends in mercury, lead and cadmium concentrations in 27 European streams and rivers: 2000–2020.

Author

Eklöf, Karin, von Brömssen, Claudia, Huser, Brian, Åkerblom, Staffan, Augustaitis, Algirdas, Veiteberg Braaten, Hans Fredrik, de Wit, Heleen A., Dirnböck, Thomas, Elustondo, David, Grandin, Ulf, Holubová, Adéla, Kleemola, Sirpa, Krám, Pavel, Lundin, Lars, Löfgren, Stefan, Markensten, Hampus, Moldan, Filip, Pihl Karlsson, Gunilla, Rönnback, Pernilla, and Valinia, Salar

Subjects
LEAD, ABSTRACT art, RIVER channels, WATER chemistry, ORGANIC compounds
Abstract

Temporal trends for concentrations of mercury (Hg), lead (Pb) and cadmium (Cd) were evaluated from year 2000–2020 in 20 (Hg), 23 (Pb) and 11 (Cd) watercourses in remote forest catchments in Europe. Decreasing trends were observed in 15% (Hg), 39% (Pb) and 45% (Cd) of the watercourses during the period of evaluation. Decreasing trends were mainly observed between 2000 and 2005 for Hg and between 2000 and 2015 for Pb and Cd. For the last five years of the studied time period (2015–2020), more watercourses showed significant increasing, rather than decreasing Hg, Pb and Cd trends. This was interpreted as a legacy effect of metals still retained in catchment soils. The overall negative trends during the earlier part of the study period were likely driven by declining deposition of metals over Europe, especially for Pb and Cd. Other changes related to metal transport and chemistry may have contributed to the observed trends as well, including recovery from acidification and the ongoing browning of surface waters at northern latitudes. Here we found that organic carbon could explain the seasonal variation in Hg and Pb, but was not related the interannual trends. This study highlights the need for long-term monitoring and robust statistical methods that can detect multidirectional, long-term change in water chemistry. Abstract art. Overall trends for Hg, Pb and Cd concentrations in the studied watercourses between 2000 and 2020. Note that trends are not monotonic and that different concentration units have been standardized for comparison purposes. [Display omitted] • Mercury, lead and cadmium trends in 27 European streams and rivers were evaluated. • 2000 to 2020, mercury, lead and cadmium concentrations declined in many watercourses. • Trends were not monotonic, since 2015 increasing trends outnumbered decreasing ones. • Declining deposition and recovery from acidification may drive declining trends. • Organic matter explained the seasonal but not long-term trends for mercury and lead. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Koncentration och export av TOC från dikad organogen mark : En rumsligt upplöst modell för nationell skattning

Author

Wallin, Marcus, Bishop, Kevin, Fölster, Jens, Löfgren, Stefan, and Lundblad, Mattias

Subjects
nationell rapportering, dikad organogen mark, DOC, Miljövetenskap, växthusgaser, Environmental Sciences
Abstract

Sverige rapporterar årligen, inom FN:s ramkonvention för klimatförändringar (UNFCCC) och Kyotoprokollet, Sveriges samlade utsläpp av växthusgaser, (National Inventory Report - NIR). En del av denna rapportering rör utsläpp kopplade till export av löst organiskt kol (DOC) från dikad organogen mark. Hittills har denna rapportering baserats på IPCC:s vägledning där ett schablonvärde till utsläppsfaktor (12 g C/m2/år) applicerats för beräkning av utsläpp från all dikad organogen mark, dvs. att ingen hänsyn tagits till markanvändning eller geografiskt läge för den organogena dikade marken. De årliga beräknade utsläppen motsvarar omkring 0,5 miljoner ton CO2 per år. Här har syftet varit att ta fram en rumsligt upplöst modell för att bättre skatta DOC-export från dikad organogen mark vilken tar hänsyn till geografiska och hydrometeorologiska variationer. I denna studie användes totalt organiskt kol (TOC) som en proxy för DOC då studier från svenska förhållanden visar att DOC utgör >90 % av TOC över olika vattendrag och säsonger. Baserat på data från ca 900 små vattendrag (avrinningsområdesarea 20 %) myrmark i avrinningsområdet. En modell för TOC-koncentration visade på stora geografiska skillnader med ökande halter längs med nord-sydlig samt väst-ostliga gradienter. Dessutom var även den genomsnittliga årliga nederbörden kopplad till TOC-koncentrationen i vattendragen. Höjd över havet var negativt relaterat till TOC-koncentrationen, men bidrog inte signifikant till den slutliga modellen. Den framtagna modellen föreslås användas tillsammans med avrinningsdata för skattning av DOC-export från dikad organogen mark i kommande växthusgasrapportering. Som jämförelse med det tidigare använda schablonvärdet till utsläppsfaktor använt i rapporteringen beräknades TOC-exporten från de i studien ingående 123 vattendrag representerande dikad organogen mark (dvs. >20% våtmark i avrinningsområdet). Denna var i median 10.7 (5,7-16,5) g C/m2/år, dvs. något lägre än schablonvärdet. Dock ska beaktas att i studien ingående vattendrag till olika stor del påverkas av mineraljord i avrinningsområdet, varför studien även belyser behovet av riktade provtagningsprogram där export av organiskt kol specifikt kvantifieras från dikad samt odikad organogen mark. Sweden reports annually, within the UN Framework Convention on Climate Change (UNFCCC) and the Kyoto Protocol, Sweden's total greenhouse gas emissions (National Inventory Report - NIR). A small part of this reporting concerns emissions linked to the export of dissolved organic carbon (DOC) from drained organic soils. To date, this reporting has been based on the IPCC's guidance and where a default emission factor (12 g C/m2/year) has been applied for all drained organic soils, i.e. land-use or geographical position have not been considered. The annual emissions related to DOC corresponds to ca 0.5 million tonnes of CO2. Here, the purpose has been to develop a spatially distributed model to better estimate DOC exports from drained organic soils, which takes into account geographical and hydrometeorological variations. In this study, total organic carbon (TOC) was used as a proxy for DOC as studies from Sweden show that DOC corresponds to >90 % of TOC across watercourses and seasons. Based on data from about 900 small watercourses (catchment area 20 %) of organic soils in the catchment area. A model for TOC concentration showed large geographical differences with increasing concentrations along north-south and west-east gradients. In addition, mean annual long-term precipitation was linked to TOC concentration. Elevation above sea level was negatively related to TOC concentration but did not contribute significantly to the final model. The model developed is proposed to be used together with run-off data for estimating DOC exports from drained organic soils in future greenhouse gas inventories. The estimated TOC export from the 123 watercourses included in the study, and that represented drained organic soils, was on median 10.7 (5.7-16.5) g C/m2/year, i.e. slightly lower than the default emission factor currently used in the reporting. However, it should be taken into account that included watercourses are to varying degrees affected by mineral soil in the catchment area, which is why the study also highlights the need for targeted sampling programs where exports of organic carbon are specifically quantified from drained and undrained organic soils.

Published
2021

50. Effects of Climate and Atmospheric Nitrogen Deposition on Early to Mid-Term Stage Litter Decomposition Across Biomes

Author

Kwon, TaeOh, Shibata, Hideaki, Kepfer-Rojas, Sebastian, Schmidt, Inger K., Larsen, Klaus S., Beier, Claus, Berg, Bjorn, Verheyen, Kris, Lamarque, Jean-Francois, Hagedorn, Frank, Eisenhauer, Nico, Djukic, Ika, Weih, Martin, Löfgren, Stefan, and Tóth, Zsolt

Subjects
Environmental Sciences (social aspects to be 507)
Abstract

Litter decomposition is a key process for carbon and nutrient cycling in terrestrial ecosystems and is mainly controlled by environmental conditions, substrate quantity and quality as well as microbial community abundance and composition. In particular, the effects of climate and atmospheric nitrogen (N) deposition on litter decomposition and its temporal dynamics are of significant importance, since their effects might change over the course of the decomposition process. Within the TeaComposition initiative, we incubated Green and Rooibos teas at 524 sites across nine biomes. We assessed how macroclimate and atmospheric inorganic N deposition under current and predicted scenarios (RCP 2.6, RCP 8.5) might affect litter mass loss measured after 3 and 12 months. Our study shows that the early to mid-term mass loss at the global scale was affected predominantly by litter quality (explaining 73% and 62% of the total variance after 3 and 12 months, respectively) followed by climate and N deposition. The effects of climate were not litter-specific and became increasingly significant as decomposition progressed, with MAP explaining 2% and MAT 4% of the variation after 12 months of incubation. The effect of N deposition was litter-specific, and significant only for 12-month decomposition of Rooibos tea at the global scale. However, in the temperate biome where atmospheric N deposition rates are relatively high, the 12-month mass loss of Green and Rooibos teas decreased significantly with increasing N deposition, explaining 9.5% and 1.1% of the variance, respectively. The expected changes in macroclimate and N deposition at the global scale by the end of this century are estimated to increase the 12-month mass loss of easily decomposable litter by 1.1-3.5% and of the more stable substrates by 3.8-10.6%, relative to current mass loss. In contrast, expected changes in atmospheric N deposition will decrease the mid-term mass loss of high-quality litter by 1.4-2.2% and that of low-quality litter by 0.9-1.5% in the temperate biome. Our results suggest that projected increases in N deposition may have the capacity to dampen the climate-driven increases in litter decomposition depending on the biome and decomposition stage of substrate.

Published
2021

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