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Hudson, Lawrence N. ; Newbold, Tim ; Contu, Sara ; Hill, Samantha L. L. ; Lysenko, Igor ; De Palma, Adriana ; Phillips, Helen R. P. ; Senior, Rebecca A. ; Bennett, Dominic J. ; Booth, Hollie ; Choimes, Argyrios ; Correia, David L. P. ; Day, Julie ; Echeverria-Londono, Susy ; Garon, Morgan ; Harrison, Michelle L. K. ; Ingram, Daniel J. ; Jung, Martin ; Kemp, Victoria ; Kirkpatrick, Lucinda ; Martin, Callum D. ; Pan, Yuan ; White, Hannah J. ; Aben, Job ; Abrahamczyk, Stefan ; Adum, Gilbert B. ; Aguilar-Barquero, Virginia ; Aizen, Marcelo ; Ancrenaz, Marc ; Arbelaez-Cortes, Enrique ; Armbrecht, Inge ; Azhar, Badrul ; Azpiroz, Adrian B. ; Baeten, Lander ; Báldi, András ; Banks, John E. ; Barlow, Jos ; Batáry, Péter ; Bates, Adam J. ; Bayne, Erin M. ; Beja, Pedro ; Berg, Ake ; Berry, Nicholas J. ; Bicknell, Jake E. ; Bihn, Jochen H. ; Böhning-Gaese, Katrin ; Boekhout, Teun ; Boutin, Celine ; Bouyer, Jeremy ; Brearley, Francis Q. ; Brito, Isabel ; Brunet, Jörg ; Buczkowski, Grzegorz ; Buscardo, Erika ; Cabra-Garcia, Jimmy ; Calvino-Cancela, Maria ; Cameron, Sydney A. ; Cancello, Eliana M. ; Carrijo, Tiago F. ; Carvalho, Anelena L. ; Castro, Helena ; Castro-Luna, Alejandro A. ; Cerda, Rolando ; Cerezo, Alexis ; Chauvat, Matthieu ; Clarke, Frank M. ; Cleary, Daniel F. R. ; Connop, Stuart P. ; D'Aniello, Biagio ; da Silva, Pedro Giovani ; Darvill, Ben ; Dauber, Jens ; Dejean, Alain ; Diekötter, Tim ; Dominguez-Haydar, Yamileth ; Dormann, Carsten F. ; Dumont, Bertrand ; Dures, Simon G. ; Dynesius, Mats ; Edenius, Lars ; Elek, Zoltán ; Entling, Martin H. ; Farwig, Nina ; Fayle, Tom M. ; Felicioli, Antonio ; Felton, Annika M. ; Ficetola, Gentile F. ; Filgueiras, Bruno K. C. ; Fonte, Steve J. ; Fraser, Lauchlan H. ; Fukuda, Daisuke ; Furlani, Dario ; Ganzhorn, Jörg U. ; Garden, Jenni G. ; Gheler-Costa, Carla ; Giordani, Paolo ; Giordano, Simonetta ; Gottschalk, Marco S. ; Goulson, Dave ; Gove, Aaron D. ; Grogan, James ; Hanley, Mick E. ; Hanson, Thor ; Hashim, Nor R. ; Hawes, Joseph E. ; Hébert, Christian ; Helden, Alvin J. ; Henden, John-André ; Hernández, Lionel ; Herzog, Felix ; Higuera-Diaz, Diego ; Hilje, Branko ; Horgan, Finbarr G. ; Horváth, Roland ; Hylander, Kristoffer ; Horváth, Roland ; Isaacs-Cubides, Paola ; Ishitani, Mashiro ; Jacobs, Carmen T. ; Jaramillo, Victor J. ; Jauker, Birgit ; Jonsell, Matts ; Jung, Thomas S. ; Kapoor, Vena ; Kati, Vassiliki ; Katovai, Eric ; Kessler, Michael ; Knop, Eva ; Kolb, Annette ; Körösi, Àdám ; Lachat, Thibault ; Lantschner, Victoria ; Le Féon, Violette ; LeBuhn, Gretchen ; Légaré, Jean-Philippe ; Letcher, Susan G. ; Littlewood, Nick A. ; López-Quintero, Carlos A. ; Louhaichi, Mounir ; Lövei, Gabor L. ; Lucas-Borja, Manuel Esteban ; Luja, Victor H. ; Maeto, Kaoru ; Magura, Tibor ; Mallari, Neil Aldrin ; Marin-Spiotta, Erika ; Marhall, E. J. P. ; Martínez, Eliana ; Mayfield, Margaret M. ; Mikusinski, Gregorz ; Milder, Jeffery C. ; Miller, James R. ; Morales, Carolina L. ; Muchane, Mary N. ; Muchane, Muchai ; Naidoo, Robin ; Nakamura, Akihiro ; Naoe, Shoji ; Nates-Parra, Guiomar ; Navarerete Gutierrez, Dario A. ; Neuschulz, Eike L. ; Noreika, Norbertas ; Norfolk, Olivia ; Noriega, Jorge Ari ; Nöske, Nicole M. ; O'Dea, Niall ; Oduro, William ; Ofori-Boateng, Caleb ; Oke, Chris O. ; Osgathorpe, Lynne M. ; Paritsis, Juan ; Parrah, Alejandro ; Pelegrin, Nicolás ; Peres, Carlos A. ; Persson, Anna S. ; Petanidou, Theodora ; Phalan, Ben ; Philips, T. Keith ; Poveda, Katja ; Power, Eileen F. ; Presley, Steven J. ; Proença, Vânia ; Quaranta, Marino ; Quintero, Carolina ; Redpath-Downing, Nicola A. ; Reid, J. Leighton ; Reis, Yana T. ; Ribeiro, Danilo B. ; Richardson, Barbara A. ; Richardson, Michael J. ; Robles, Carolina A. ; Römbke, Jörg ; Romero-Duque, Luz Piedad ; Rosselli, Loreta ; Rossiter, Stephen J. ; Roulston, T'ai H. ; Rousseau, Laurent ; Sadler, Jonathan P. ; Sáfián, Szbolcs ; Saldaña-Vásquez, Romeo A. ; Samnegård, Ulrika ; Schüepp, Christof ; Schweiger, Oliver ; Sedlock, Jodi L. ; Shahabuddin, Ghazala ; Sheil, Douglas ; Silva, Fernando A. B. ; Slade, Eleanor ; Smith-Pardo, Allan H. ; Sodhi, Navjot S. ; Somarriba, Eduardo J. ; Sosa, Ramón A. ; Stout, Jane C. ; Struebig, Matthew J. ; Sung, Yik-Hei ; Threlfall, Caragh G. ; Tonietto, Rebecca ; Tóthmérész, Béla ; Tscharntke, Teja ; Turner, Edgar C. ; Tylianakis, Jason M. ; Vanbergen, Adam J. ; Vassilev, Kiril ; Verboven, Hans A. F. ; Vergara, Carlos H. ; Vergara, Pablo M. ; Verhulst, Jort ; Walker, Tony R. ; Wang, Yanping ; Watling, James I. ; Wells, Konstans ; Williams, Christopher D. ; Willig, Michael R. ; Woinarski, John C. Z. ; Wolf, Jan H. D. ; Woodcock, Ben A. ; Yu, Douglas W. ; Zailsev, Andreys ; Collen, Ben ; Ewers, Rob M. ; Mace, Georgina M. ; Purves, Drew W. ; Scharlemann, Jörn P. W. ; Pervis, Andy
Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species' threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project - and avert - future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups - including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems - ). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
Mansour, Ahmad M. ; Arevalo, J. Fernando ; Al Kahtani, Eman ; Zegarra, Hernando ; Abboud, Emad ; Anand, Rajiv ; Ahmadieh, Hamid ; Sisk, Robert A. ; Mirza, Salman ; Tuncer, Samuray ; Navea Tejerina, Amparo ; Mataix, Jorge ; Ascaso, Francisco J. ; Pulido, Jose S. ; Guthoff, Rainer ; Goebel, Winfried ; Roh, Young Jung ; Banker, Alay S. ; Gentile, Ronald C. ; Alonso Martinez, Isabel ; Morris, Rodney ; Panday, Neeraj ; Min, Park Jung ; Merce, Emilie ; Lai, Timothy Y. Y. ; Massoud, Vicky ; Ghazi, Nicola G.
We treated 26 eyes of 25 young patients having a mean age of 30 years with intravitreal vascular endothelial growth factor (VEGF) inhibitor for choroidal new vessel (CNV) formation overlying choroidal osteoma over a mean follow-up of 26 months. Mean number of injections was 2.4 at 6 months, 3.2 at 12 months, and 5.5 at 24 months. CNV was subfoveal in 14 eyes, juxtafoveal in 5, extrafoveal in 5, and peripapillary in 2. By paired comparison, mean decrease from baseline was 119.7 microns at 6 months (n = 15; P = 0.001), 105.3 microns at 1 year (n = 10; P = 0.03), and 157.6 microns at 2 years (n = 7; P = 0.08). BCVA improved by 3.3 lines at 6 months after therapy (n = 26; P < 0.001), 2.8 lines (n = 20; P = 0.01) at 1 year, and 3.1 lines (n = 13; P = 0.049) at 2 years. We conclude that intravitreal anti-VEGF injections improve vision in majority of eyes with CNV from choroidal osteoma.
Bousquet, J. ; Farrell, J. ; Crooks, G. ; Hellings, P. ; Bel, E. H. ; Bewick, M. ; Chavannes, N. H. ; Correia de Sousa, J. ; Cruz, A. A. ; Haahtela, T. ; Joos, G. ; Khaltaev, N. ; Malva, J. ; Muraro, A. ; Nogues, M. ; Palkonen, S. ; Pedersen, S. ; Robalo-Cordeiro, C. ; Samolinski, B. ; Strandberg, T. ; Valiulis, A. ; Yorgancioglu, A. ; Zuberbier, T. ; Bedbrook, A. ; Aberer, W. ; Adachi, M. ; Agusti, A. ; Akdis, C. A. ; Akdis, M. ; Ankri, J. ; Alonso, A. ; Annesi-Maesano, I. ; Ansotegui, I. J. ; Anto, J. M. ; Arnavielhe, S. ; Arshad, H. ; Bai, C. ; Baiardini, I. ; Bachert, C. ; Baigenzhin, A. K. ; Barbara, C. ; Bateman, E. D. ; Beghé, B. ; Ben Kheder, A. ; Bennoor, K. S. ; Benson, M. ; Bergmann, K. C. ; Bieber, T. ; Bindslev-Jensen, C. ; Bjermer, L. ; Blain, H. ; Blasi, F. ; Boner, A. L. ; Bonini, M. ; Bonini, S. ; Bosnic-Anticevitch, S. ; Boulet, L. P. ; Bourret, R. ; Bousquet, P. J. ; Braido, F. ; Briggs, A. H. ; Brightling, C. E. ; Brozek, J. ; Buhl, R. ; Burney, P. G. ; Bush, A. ; Caballero-Fonseca, F. ; Caimmi, D. ; Calderon, M. A. ; Calverley, P. M. ; Camargos, P. A. M. ; Canonica, G. W. ; Camuzat, T. ; Carlsen, K. H. ; Carr, W. ; Carriazo, A. ; Casale, T. ; Cepeda Sarabia, A. M. ; Chatzi, L. ; Chen, Y. Z. ; Chiron, R. ; Chkhartishvili, E. ; Chuchalin, A. G. ; Chung, K. F. ; Ciprandi, G. ; Cirule, I. ; Cox, L. ; Costa, D. J. ; Custovic, A. ; Dahl, R. ; Dahlen, S. E. ; Darsow, U. ; De Carlo, G. ; De Blay, F. ; Dedeu, T. ; Deleanu, D. ; De Manuel Keenoy, E. ; Demoly, P. ; Denburg, J. A. ; Devillier, P. ; Didier, A. ; Dinh-Xuan, A. T. ; Djukanovic, R. ; Dokic, D. ; Douagui, H. ; Dray, G. ; Dubakiene, R. ; Durham, S. R. ; Dykewicz, M. S. ; El-Gamal, Y. ; Emuzyte, R. ; Fabbri, L. M. ; Fletcher, M. ; Fiocchi, A. ; Fink Wagner, A. ; Fonseca, J. ; Fokkens, W. J. ; Forastiere, F. ; Frith, P. ; Gaga, M. ; Gamkrelidze, A. ; Garces, J. ; Garcia-Aymerich, J. ; Gemicioğlu, B. ; Gereda, J. E. ; González Diaz, S. ; Gotua, M. ; Grisle, I. ; Grouse, L. ; Gutter, Z. ; Guzmán, M. A. ; Heaney, L. G. ; Hellquist-Dahl, B. ; Henderson, D. ; Hendry, A. ; Heinrich, J. ; Heve, D. ; Horak, F. ; Hourihane, J. O’. B. ; Howarth, P. ; Humbert, M. ; Hyland, M. E. ; Illario, M. ; Ivancevich, J. C. ; Jardim, J. R. ; Jares, E. J. ; Jeandel, C. ; Jenkins, C. ; Johnston, S. L. ; Jonquet, O. ; Julge, K. ; Jung, K. S. ; Just, J. ; Kaidashev, I. ; Kaitov, M. R. ; Kalayci, O. ; Kalyoncu, A. F. ; Keil, T. ; Keith, P. K. ; Klimek, L. ; Koffi N’Goran, B. ; Kolek, V. ; Koppelman, G. H. ; Kowalski, M. L. ; Kull, I. ; Kuna, P. ; Kvedariene, V. ; Lambrecht, B. ; Lau, S. ; Larenas‑Linnemann, D. ; Laune, D. ; Le, L. T. T. ; Lieberman, P. ; Lipworth, B. ; Li, J. ; Lodrup Carlsen, K. ; Louis, R. ; MacNee, W. ; Magard, Y. ; Magnan, A. ; Mahboub, B. ; Mair, A. ; Majer, I. ; Makela, M. J. ; Manning, P. ; Mara, S. ; Marshall, G. D. ; Masjedi, M. R. ; Matignon, P. ; Maurer, M. ; Mavale‑Manuel, S. ; Melén, E. ; Melo‑Gomes, E. ; Meltzer, E. O. ; Menzies‑Gow, A. ; Merk, H. ; Michel, J. P. ; Miculinic, N. ; Mihaltan, F. ; Milenkovic, B. ; Mohammad, G. M. Y. ; Molimard, M. ; Momas, I. ; Montilla‑Santana, A. ; Morais‑Almeida, M. ; Morgan, M. ; Mösges, R. ; Mullol, J. ; Nafti, S. ; Namazova‑Baranova, L. ; Naclerio, R. ; Neou, A. ; Neffen, H. ; Nekam, K. ; Niggemann, B. ; Ninot, G. ; Nyembue, T. D. ; O’Hehir, R. E. ; Ohta, K. ; Okamoto, Y. ; Okubo, K. ; Ouedraogo, S. ; Paggiaro, P. ; Pali‑Schöll, I. ; Panzner, P. ; Papadopoulos, N. ; Papi, A. ; Park, H. S. ; Passalacqua, G. ; Pavord, I. ; Pawankar, R. ; Pengelly, R. ; Pfaar, O. ; Picard, R. ; Pigearias, B. ; Pin, I. ; Plavec, D. ; Poethig, D. ; Pohl, W. ; Popov, T. A. ; Portejoie, F. ; Potter, P. ; Postma, D. ; Price, D. ; Rabe, K. F. ; Raciborski, F. ; Radier Pontal, F. ; Repka‑Ramirez, S. ; Reitamo, S. ; Rennard, S. ; Rodenas, F. ; Roberts, J. ; Roca, J. ; Rodriguez Mañas, L. ; et al
Action Plan B3 of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) focuses on the integrated care of chronic diseases. Area 5 (Care Pathways) was initiated using chronic respiratory diseases as a model. The chronic respiratory disease action plan includes (1) AIRWAYS integrated care pathways (ICPs), (2) the joint initiative between the Reference site MACVIA-LR (Contre les MAladies Chroniques pour un VIeillissement Actif) and ARIA (Allergic Rhinitis and its Impact on Asthma), (3) Commitments for Action to the European Innovation Partnership on Active and Healthy Ageing and the AIRWAYS ICPs network. It is deployed in collaboration with the World Health Organization Global Alliance against Chronic Respiratory Diseases (GARD). The European Innovation Partnership on Active and Healthy Ageing has proposed a 5-step framework for developing an individual scaling up strategy: (1) what to scale up: (1-a) databases of good practices, (1-b) assessment of viability of the scaling up of good practices, (1-c) classification of good practices for local replication and (2) how to scale up: (2-a) facilitating partnerships for scaling up, (2-b) implementation of key success factors and lessons learnt, including emerging technologies for individualised and predictive medicine. This strategy has already been applied to the chronic respiratory disease action plan of the European Innovation Partnership on Active and Healthy Ageing.
Dörk, Thilo ; Peterlongo, Peter ; Mannermaa, Arto ; Bolla, Manjeet K. ; Wang, Qin ; Dennis, Joe ; Ahearn, Thomas ; Andrulis, Irene L. ; Anton-Culver, Hoda ; Arndt, Volker ; Aronson, Kristan J. ; Augustinsson, Annelie ; Beane Freeman, Laura E. ; Beckmann, Matthias W. ; Beeghly-Fadiel, Alicia ; Behrens, Sabine ; Bermisheva, Marina ; Blomqvist, Carl ; Bogdanova, Natalia V. ; Bojesen, Stig E. ; Brauch, Hiltrud ; Brenner, Hermann ; Burwinkel, Barbara ; Canzian, Federico ; Chan, Tsun L. ; Chang-Claude, Jenny ; Chanock, Stephen J. ; Choi, Ji-Yeob ; Christiansen, Hans ; Clarke, Christine L. ; Couch, Fergus J. ; Czene, Kamila ; Daly, Mary B. ; dos-Santos-Silva, Isabel ; Dwek, Miriam ; Eccles, Diana M. ; Ekici, Arif B. ; Eriksson, Mikael ; Evans, D. Gareth ; Fasching, Peter A. ; Figueroa, Jonine ; Flyger, Henrik ; Fritschi, Lin ; Gabrielson, Marike ; Gago-Dominguez, Manuela ; Gao, Chi ; Gapstur, Susan M. ; García-Closas, Montserrat ; García-Sáenz, José A. ; Gaudet, Mia M. ; Giles, Graham G. ; Goldberg, Mark S. ; Goldgar, David E. ; Guenél, Pascal ; Haeberle, Lothar ; Haimann, Christopher A. ; Håkansson, Niclas ; Hall, Per ; Hamann, Ute ; Hartman, Mikael ; Hauke, Jan ; Hein, Alexander ; Hillemanns, Peter ; Hogervorst, Frans B. L. ; Hooning, Maartje J. ; Hopper, John L. ; Howell, Tony ; Huo, Dezheng ; Ito, Hidemi ; Iwasaki, Motoki ; Jakubowska, Anna ; Janni, Wolfgang ; John, Esther M. ; Jung, Audrey ; Kaaks, Rudolf ; Kang, Daehee ; Kapoor, Pooja Middha ; Khusnutdinova, Elza ; Kim, Sung-Won ; Kitahara, Cari M. ; Koutros, Stella ; Kraft, Peter ; Kristensen, Vessela N. ; Kwong, Ava ; Lambrechts, Diether ; Le Marchand, Loic ; Li, Jingmei ; Lindström, Sara ; Linet, Martha ; Lo, Wing-Yee ; Long, Jirong ; Lophatananon, Artitaya ; Lubiński, Jan ; Manoochehri, Mehdi ; Manoukian, Siranoush ; Margolin, Sara ; Martinez, Elena ; Matsuo, Keitaro ; Mavroudis, Dimitris ; Meindl, Alfons ; Menon, Usha ; Milne, Roger L. ; Mohd Taib, Nur Aishah ; Muir, Kenneth ; Mulligan, Anna Marie ; Neuhausen, Susan L. ; Nevanlinna, Heli ; Neven, Patrick ; Newman, William G. ; Offit, Kenneth ; Olopade, Olufunmilayo I. ; Olshan, Andrew F. ; Olson, Janet E. ; Olsson, Håkan ; Park, Sue K. ; Park-Simon, Tjoung-Won ; Peto, Julian ; Plaseska-Karanfilska, Dijana ; Pohl-Rescigno, Esther ; Presneau, Nadege ; Rack, Brigitte ; Radice, Paolo ; Rashid, Muhammad U. ; Rennert, Gad ; Rennert, Hedy S. ; Romero, Atocha ; Ruebner, Matthias ; Saloustros, Emmanouil ; Schmidt, Marjanka K. ; Schmutzler, Rita K. ; Schneider, Michael O. ; Schoemaker, Minouk J. ; Scott, Christopher ; Shen, Chen-Yang ; Shu, Xiao-Ou ; Simard, Jaques ; Slager, Susan ; Smichkoska, Snezhana ; Southey, Melissa C. ; Spinelli, John J. ; Stone, Jennifer ; Surowy, Harald ; Swerdlow, Anthony J. ; Tamimi, Rulla M. ; Tapper, William J. ; Teo, Soo H. ; Terry, Mary Beth ; Toland, Amanda E. ; Tollenaar, Rob A. E. M. ; Torres, Diana ; Torres-Mejía, Gabriela ; Troester, Melissa A. ; Truong, Thérèse ; Tsugane, Shoichiro ; Untch, Michael ; Vachon, Celine M. ; van den Ouweland, Ans M. W. ; van Veen, Elke M. ; Vijai, Joseph ; Wendt, Camilla ; Wolk, Alicja ; Yu, Jyh-Cherng ; Zheng, Wei ; Ziogas, Argyrios ; Ziv, Elad ; Dunnig, Alison ; Pharaoh, Paul D. P. ; Schindler, Detlev ; Devilee, Peter ; Easton, Douglas F.
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
Bousquet, Jean ; Anto, Josep M. ; Bachert, Claus ; Haahtela, Tari ; Zuberbier, Torsten ; Czarlewski, Wienczyslawa ; Bedbrook, Anna ; Bosnic‐Anticevich, Sinthia ; Walter Canonica, G. ; Cardona, Victoria ; Costa, Elisio ; Cruz, Alvaro A. ; Erhola, Marina ; Fokkens, Wytske J. ; Fonseca, Joao A. ; Illario, Maddalena ; Ivancevich, Juan‐Carlos ; Jutel, Marek ; Klimek, Ludger ; Kuna, Piotr ; Kvedariene, Violeta ; Le, LTT ; Larenas‐Linnemann, Désirée E. ; Laune, Daniel ; Lourenço, Olga M. ; Melén, Erik ; Mullol, Joaquim ; Niedoszytko, Marek ; Odemyr, Mikaëla ; Okamoto, Yoshitaka ; Papadopoulos, Nikos G. ; Patella, Vincenzo ; Pfaar, Oliver ; Pham‐Thi, Nhân ; Rolland, Christine ; Samolinski, Boleslaw ; Sheikh, Aziz ; Sofiev, Mikhail ; Suppli Ulrik, Charlotte ; Todo‐Bom, Ana ; Tomazic, Peter‐Valentin ; Toppila‐Salmi, Sanna ; Tsiligianni, Ioanna ; Valiulis, Arunas ; Valovirta, Erkka ; Ventura, Maria‐Teresa ; Walker, Samantha ; Williams, Sian ; Yorgancioglu, Arzu ; Agache, Ioana ; Akdis, Cezmi A. ; Almeida, Rute ; Ansotegui, Ignacio J. ; Annesi‐Maesano, Isabella ; Arnavielhe, Sylvie ; Basagaña, Xavier ; D. Bateman, Eric ; Bédard, Annabelle ; Bedolla‐Barajas, Martin ; Becker, Sven ; Bennoor, Kazi S. ; Benveniste, Samuel ; Bergmann, Karl C. ; Bewick, Michael ; Bialek, Slawomir ; E. Billo, Nils ; Bindslev‐Jensen, Carsten ; Bjermer, Leif ; Blain, Hubert ; Bonini, Matteo ; Bonniaud, Philippe ; Bosse, Isabelle ; Bouchard, Jacques ; Boulet, Louis‐Philippe ; Bourret, Rodolphe ; Boussery, Koen ; Braido, Fluvio ; Briedis, Vitalis ; Briggs, Andrew ; Brightling, Christopher E. ; Brozek, Jan ; Brusselle, Guy ; Brussino, Luisa ; Buhl, Roland ; Buonaiuto, Roland ; Calderon, Moises A. ; Camargos, Paulo ; Camuzat, Thierry ; Caraballo, Luis ; Carriazo, Ana‐Maria ; Carr, Warner ; Cartier, Christine ; Casale, Thomas ; Cecchi, Lorenzo ; Cepeda Sarabia, Alfonso M. ; H. Chavannes, Niels ; Chkhartishvili, Ekaterine ; Chu, Derek K. ; Cingi, Cemal ; Correia de Sousa, Jaime ; Costa, David J. ; Courbis, Anne‐Lise ; Custovic, Adnan ; Cvetkosvki, Biljana ; D'Amato, Gennaro ; da Silva, Jane ; Dantas, Carina ; Dokic, Dejan ; Dauvilliers, Yves ; De Feo, Giulia ; De Vries, Govert ; Devillier, Philippe ; Di Capua, Stefania ; Dray, Gerard ; Dubakiene, Ruta ; Durham, Stephen R. ; Dykewicz, Mark ; Ebisawa, Motohiro ; Gaga, Mina ; El‐Gamal, Yehia ; Heffler, Enrico ; Emuzyte, Regina ; Farrell, John ; Fauquert, Jean‐Luc ; Fiocchi, Alessandro ; Fink‐Wagner, Antje ; Fontaine, Jean‐François ; Fuentes Perez, José M. ; Gemicioğlu, Bilun ; Gamkrelidze, Amiran ; Garcia‐Aymerich, Judith ; Gevaert, Philippe ; Gomez, René Maximiliano ; González Diaz, Sandra ; Gotua, Maia ; Guldemond, Nick A. ; Guzmán, Maria‐Antonieta ; Hajjam, Jawad ; Huerta Villalobos, Yunuen R. ; Humbert, Marc ; Iaccarino, Guido ; Ierodiakonou, Despo ; Iinuma, Tomohisa ; Jassem, Ewa ; Joos, Guy ; Jung, Ki‐Suck ; Kaidashev, Igor ; Kalayci, Omer ; Kardas, Przemyslaw ; Keil, Thomas ; Khaitov, Musa ; Khaltaev, Nikolai ; Kleine‐Tebbe, Jorg ; Kouznetsov, Rostislav ; Kowalski, Marek L. ; Kritikos, Vicky ; Kull, Inger ; La Grutta, Stefania ; Leonardini, Lisa ; Ljungberg, Henrik ; Lieberman, Philip ; Lipworth, Brian ; Lodrup Carlsen, Karin C. ; Lopes‐Pereira, Catarina ; Loureiro, Claudia C. ; Louis, Renaud ; Mair, Alpana ; Mahboub, Bassam ; Makris, Michaël ; Malva, Joao ; Manning, Patrick ; Marshall, Gailen D. ; Masjedi, Mohamed R. ; Maspero, Jorge F. ; Carreiro‐Martins, Pedro ; Makela, Mika ; Mathieu‐Dupas, Eve ; Maurer, Marcus ; De Manuel Keenoy, Esteban ; Melo‐Gomes, Elisabete ; Meltzer, Eli O. ; Menditto, Enrica ; Mercier, Jacques ; Micheli, Yann ; Miculinic, Neven ; Mihaltan, Florin ; Milenkovic, Branislava ; Mitsias, Dimitirios I. ; Moda, Giuliana ; Mogica‐Martinez, Maria‐Dolores ; Mohammad, Yousser ; Montefort, Steve ; Monti, Ricardo ; Morais‐Almeida, Mario ; Mösges, Ralph ; Münter, Lars ; Muraro, Antonella ; Murray, Ruth ; Naclerio, Robert ; Napoli, Luigi ; Namazova‐Baranova, Leyla ; Neffen, Hugo ; Nekam, Kristoff ; Neou, Angelo ; Nordlund, Björn ; Novellino, Ettore ; Nyembue, Dieudonné ; O'Hehir, Robyn ; Ohta, Ken ; Okubo, Kimi ; Onorato, Gabrielle L. ; Orlando, Valentina ; Ouedraogo, Solange ; Palamarchuk, Julia ; Pali‐Schöll, Isabella ; Panzner, Peter ; Park, Hae‐Sim ; Passalacqua, Gianni ; Pépin, Jean‐Louis ; Paulino, Ema ; Pawankar, Ruby ; Phillips, Jim ; Picard, Robert ; Pinnock, Hilary ; Plavec, Davor ; Popov, Todor A. ; Portejoie, Fabienne ; Price, David ; Prokopakis, Emmanuel P. ; Psarros, Fotis ; Pugin, Benoit ; Puggioni, Francesca ; Quinones‐Delgado, Pablo ; Raciborski, Filip ; Rajabian‐Söderlund, Rojin ; Regateiro, Frederico S. ; Reitsma, Sietze ; Rivero‐Yeverino, Daniela ; Roberts, Graham ; Roche, Nicolas ; Rodriguez‐Zagal, Erendira ; Rolland, Christine ; Roller‐Wirnsberger, Regina E. ; Rosario, Nelson ; Romano, Antonino ; Rottem, Menachem ; Ryan, Dermot ; Salimäki, Johanna ; Sanchez‐Borges, Mario M. ; Sastre, Joaquin ; Scadding, Glenis K. ; Scheire, Sophie ; Schmid‐Grendelmeier, Peter ; Schünemann, Holger J. ; Sarquis Serpa, Faradiba ; Shamji, Mohamed ; Sisul, Juan‐Carlos ; Sofiev, Mikhail ; Solé, Dirceu ; Somekh, David ; Sooronbaev, Talant ; Sova, Milan ; Spertini, François ; Spranger, Otto ; Stellato, Cristiana ; Stelmach, Rafael ; Thibaudon, Michel ; To, Teresa ; Toumi, Mondher ; Usmani, Omar ; Valero, Antonio A. ; Valenta, Rudolph ; Valentin‐Rostan, Marylin ; Pereira, Marilyn Urrutia ; van der Kleij, Rianne ; Van Eerd, Michiel ; Vandenplas, Olivier ; Vasankari, Tuula ; Vaz Carneiro, Antonio ; Vezzani, Giorgio ; Viart, Frédéric ; Viegi, Giovanni ; Wallace, Dana ; Wagenmann, Martin ; Wang, De Yun ; Waserman, Susan ; Wickman, Magnus ; Williams, Dennis M. ; Wong, Gary ; Wroczynski, Piotr ; Yiallouros, Panayiotis K. ; Yusuf, Osman M. ; Zar, Heather J. ; Zeng, Stéphane ; Zernotti, Mario E. ; Zhang, Luo ; Shan Zhong, Nan ; Zidarn, Mihaela
Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.
Righesso, L. A. R. ; Terekhov, M. ; Götz, H. ; Ackermann, M. ; Emrich, T. ; Schreiber, L. M. ; Müller, W. E. G. ; Jung, J. ; Rojas, J. P. ; Al-Nawas, B.
Objectives
Micro-computed tomography (μ-CT) and histology, the current gold standard methods for assessing the formation of new bone and blood vessels, are invasive and/or destructive. With that in mind, a more conservative tool, dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI), was tested for its accuracy and reproducibility in monitoring neovascularization during bone regeneration. Additionally, the suitability of blood perfusion as a surrogate of the efficacy of osteoplastic materials was evaluated.
Materials and methods
Sixteen rabbits were used and equally divided into four groups, according to the time of euthanasia (2, 3, 4, and 6 weeks after surgery). The animals were submitted to two 8-mm craniotomies that were filled with blood or autogenous bone. Neovascularization was assessed in vivo through DCE-MRI, and bone regeneration, ex vivo, through μ-CT and histology.
Results
The defects could be consistently identified, and their blood perfusion measured through DCE-MRI, there being statistically significant differences within the blood clot group between 3 and 6 weeks (p = 0.029), and between the former and autogenous bone at six weeks (p = 0.017). Nonetheless, no significant correlations between DCE-MRI findings on neovascularization and μ-CT (r =−0.101, 95% CI [−0.445; 0.268]) or histology (r = 0.305, 95% CI [−0.133; 0.644]) findings on bone regeneration were observed.
Conclusions
These results support the hypothesis that DCE-MRI can be used to monitor neovascularization but contradict the premise that it could predict bone regeneration as well.
Petersen, Jens A. ; Kuntzer, Thierry ; Fischer, Dirk ; von der Hagen, Maja ; Veronika, Angela ; Lobrinus, Johannes A. ; Kress, Wolfram ; Rushing, Elisabeth J. ; Sinnreich, Michael ; Jung, Hans H.
Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.
Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)).
Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.
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