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679 results on '"Nava, C."'

2. An extremely low-density and temperate giant exoplanet

Author

Santerne, A., Malavolta, L., Kosiarek, M. R., Dai, F., Dressing, C. D., Dumusque, X., Hara, N. C., Lopez, T. A., Mortier, A., Vanderburg, A., Adibekyan, V., Armstrong, D. J., Barrado, D., Barros, S. C. C., Bayliss, D., Berardo, D., Boisse, I., Bonomo, A. S., Bouchy, F., Brown, D. J. A., Buchhave, L. A., Butler, R. P., Cameron, A. Collier, Cosentino, R., Crane, J. D., Crossfield, I. J. M., Damasso, M., Deleuil, M. R., Mena, E. Delgado, Demangeon, O., Díaz, R. F., Donati, J. -F., Figueira, P., Fulton, B. J., Ghedina, A., Harutyunyan, A., Hébrard, G., Hirsch, L. A., Hojjatpanah, S., Howard, A. W., Isaacson, H., Latham, D. W., Lillo-Box, J., López-Morales, M., Lovis, C., Fiorenzano, A. F. Martinez, Molinari, E., Mousis, O., Moutou, C., Nava, C., Nielsen, L. D., Osborn, H. P., Petigura, E. A., Phillips, D. F., Pollacco, D. L., Poretti, E., Rice, K., Santos, N. C., Ségransan, D., Shectman, S. A., Sinukoff, E., Sousa, S. G., Sozzetti, A., Teske, J. K., Udry, S., Vigan, A., Wang, S. X., Watson, C. A., Weiss, L. M., Wheatley, P. J., and Winn, J. N.

Subjects
Astrophysics - Earth and Planetary Astrophysics
Abstract

Transiting extrasolar planets are key objects in the study of the formation, migration, and evolution of planetary systems. In particular, the exploration of the atmospheres of giant planets, through transmission spectroscopy or direct imaging, has revealed a large diversity in their chemical composition and physical properties. Studying these giant planets allows one to test the global climate models that are used for the Earth and other solar system planets. However, these studies are mostly limited either to highly-irradiated transiting giant planets or directly-imaged giant planets at large separations. Here we report the physical characterisation of the planets in a bright multi-planetary system (HIP41378) in which the outer planet, HIP41378 f is a Saturn-sized planet (9.2 $\pm$ 0.1 R$_\oplus$) with an anomalously low density of 0.09 $\pm$ 0.02 g cm$^{-3}$ that is not yet understood. Its equilibrium temperature is about 300 K. Therefore, it represents a planet with a mild temperature, in between the hot Jupiters and the colder giant planets of the Solar System. It opens a new window for atmospheric characterisation of giant exoplanets with a moderate irradiation, with the next-generation space telescopes such as JWST and ARIEL as well as the extremely-large ground-based telescopes. HIP41378 f is thus an important laboratory to understand the effect of the irradiation on the physical properties and chemical composition of the atmosphere of planets., Comment: Preprint submitted to Nature Astronomy. The results have not been peer-reviewed yet. Supplementary informations available as ancillary file

Published
2019

3. Masses and radii for the three super-Earths orbiting GJ 9827, and implications for the composition of small exoplanets

Author

Rice, K., Malavolta, L., Mayo, A., Mortier, A., Buchhave, L. A., Affer, L., Vanderburg, A., Lopez-Morales, M., Poretti, E., Zeng, L., Cameron, A. C., Damasso, M., Coffinet, A., Latham, D. W., Bonomo, A. S., Bouchy, F., Charbonneau, D., Dumusque, X., Figueira, P., Fiorenzano, A. F. Martinez, Haywood, R. D., Johnson, J. Asher, Lopez, E., Lovis, C., Mayor, M., Micela, G., Molinari, E., Nascimbeni, V., Nava, C., Pepe, F., Phillips, D. F., Piotto, G., Sasselov, D., Ségransan, D., Sozzetti, A., Udry, S., and Watson, C.

Subjects
Astrophysics - Earth and Planetary Astrophysics, Astrophysics - Solar and Stellar Astrophysics
Abstract

Super-Earths belong to a class of planet not found in the Solar System, but which appear common in the Galaxy. Given that some super-Earths are rocky, while others retain substantial atmospheres, their study can provide clues as to the formation of both rocky planets and gaseous planets, and - in particular - they can help to constrain the role of photo-evaporation in sculpting the exoplanet population. GJ 9827 is a system already known to host 3 super-Earths with orbital periods of 1.2, 3.6 and 6.2 days. Here we use new HARPS-N radial velocity measurements, together with previously published radial velocities, to better constrain the properties of the GJ 9827 planets. Our analysis can't place a strong constraint on the mass of GJ 9827 c, but does indicate that GJ 9827 b is rocky with a composition that is probably similar to that of the Earth, while GJ 9827 d almost certainly retains a volatile envelope. Therefore, GJ 9827 hosts planets on either side of the radius gap that appears to divide super-Earths into pre-dominantly rocky ones that have radii below $\sim 1.5 R_\oplus$, and ones that still retain a substantial atmosphere and/or volatile components, and have radii above $\sim 2 R_\oplus$. That the less heavily irradiated of the 3 planets still retains an atmosphere, may indicate that photoevaporation has played a key role in the evolution of the planets in this system., Comment: 16 pages, 9 figures, accepted for publication in Monthly Notices of the Royal Astronomical Society

Published
2018
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4. An accurate mass determination for Kepler-1655b, a moderately-irradiated world with a significant volatile envelope

Author

Haywood, R. D., Vanderburg, A., Mortier, A., Giles, H. A. C., López-Morales, M., Lopez, E. D., Malavolta, L., Charbonneau, D., Cameron, A. Collier, Coughlin, J. L., Dressing, C. D., Nava, C., Latham, D. W., Dumusque, X., Lovis, C., Molinari, E., Pepe, F., Sozzetti, A., Udry, S., Bouchy, F., Johnson, J. A., Mayor, M., Micela, G., Phillips, D., Piotto, G., Rice, K., Sasselov, D., Ségransan, D., Watson, C., Affer, L., Bonomo, A. S., Buchhave, L. A., Ciardi, D. R., Fiorenzano, A. F., and Harutyunyan, A.

Subjects
Astrophysics - Earth and Planetary Astrophysics
Abstract

We present the confirmation of a small, moderately-irradiated (F = 155 +/- 7 Fearth) Neptune with a substantial gas envelope in a P=11.8728787+/-0.0000085-day orbit about a quiet, Sun-like G0V star Kepler-1655. Based on our analysis of the Kepler light curve, we determined Kepler-1655b's radius to be 2.213+/-0.082 Rearth. We acquired 95 high-resolution spectra with TNG/HARPS-N, enabling us to characterize the host star and determine an accurate mass for Kepler-1655b of 5.0+3.1/-2.8 Mearth via Gaussian-process regression. Our mass determination excludes an Earth-like composition with 98\% confidence. Kepler-1655b falls on the upper edge of the evaporation valley, in the relatively sparsely occupied transition region between rocky and gas-rich planets. It is therefore part of a population of planets that we should actively seek to characterize further., Comment: 21 pages, 14 figures, 4 tables; accepted for publication in the Astronomical Journal

Published
2018
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7. Interstellar Scintillation of the Double Pulsar J0737$-$3039

Author

Rickett, B. J., Coles, W. A., Nava, C. F., McLaughlin, M. A., Ransom, S. M., Camilo, F., Ferdman, R. D., Freire, P. C. C., Kramer, M., Lyne, A. G., and Stairs, I. H.

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

We report here a series of observations of the interstellar scintillation (ISS) of the double pulsar J0737$-$3039 over the course of 18 months. As in earlier work (Coles et al., 2005) the basic phenomenon is the variation in the ISS caused by the changing transverse velocities of each pulsar, the ionized interstellar medium (IISM), and the Earth. The transverse velocity of the binary system can be determined both by VLBI and timing observations. The orbital velocity and inclination is almost completely determined from timing observations, but the direction of the orbital angular momentum is not known. Since the Earth's velocity is known, and can be compared with the orbital velocity by its effect on the timescale of the ISS, we can determine the orientation $\Omega$ of the pulsar orbit with respect to equatorial coordinates ($\Omega = 65\pm2$ deg). We also resolve the ambiguity ($i= 88.7$ or $91.3$ deg) in the inclination of the orbit deduced from the measured Shapiro delay by our estimate $i=88.1\pm0.5$ deg. This relies on analysis of the ISS over both frequency and time and provides a model for the location, anisotropy, turbulence level and transverse phase gradient of the IISM. We find that the IISM can be well-modeled during each observation, typically of a few orbital periods, but its turbulence level and mean velocity vary significantly over the 18 months., Comment: Accepted for publication in Astrophysical Journal

Published
2014
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9. Weaning from mechanical ventilation in intensive care units across 50 countries (WEAN SAFE): a multicentre, prospective, observational cohort study

Author

Pham, T, Heunks, L, Bellani, G, Madotto, F, Aragao, I, Beduneau, G, Goligher, E, Grasselli, G, Laake, J, Mancebo, J, Penuelas, O, Piquilloud, L, Pesenti, A, Wunsch, H, van Haren, F, Brochard, L, Laffey, J, Abrough, F, Acharya, S, Amin, P, Arabi, Y, Bauer, P, Beitler, J, Berkius, J, Bugedo, G, Camporota, L, Cerny, V, Cho, Y, Clarkson, K, Estenssoro, E, Gritsan, A, Hashemian, S, Hermans, G, Jovanovic, B, Kurahashi, K, Matamis, D, Moerer, O, Molnar, Z, Ozyilmaz, E, Panka, B, Papali, A, Perbet, S, Qiu, H, Razek, A, Rittayamai, N, Roldan, R, Serpa Neto, A, Szuldrzynski, K, Talmor, D, Tomescu, D, Villagomez, A, Zeggwagh, A, Abe, T, Aboshady, A, Acampo-de Jong, M, Adderley, J, Adiguzel, N, Agrawal, V, Aguilar, G, Aguirre, G, Aguirre-Bermeo, H, Ahlstrom, B, Akbas, T, Akker, M, Al Sadeh, G, Alamri, S, Algaba, A, Ali, M, Aliberti, A, Allegue, J, Alvarez, D, Amador, J, Andersen, F, Ansari, S, Apichatbutr, Y, Apostolopoulou, O, Arellano, D, Arica, M, Arikan, H, Arinaga, K, Arnal, J, Asano, K, Asin-Corrochano, M, Avalos Cabrera, J, Avila Fuentes, S, Aydemir, S, Aygencel, G, Azevedo, L, Bacakoglu, F, Badie, J, Baedorf Kassis, E, Bai, G, Balaraj, G, Ballico, B, Banner-Goodspeed, V, Banwarie, P, Barbieri, R, Baronia, A, Barrett, J, Barrot, L, Barrueco-Francioni, J, Barry, J, Bawangade, H, Beavis, S, Beck, E, Beehre, N, Belenguer Muncharaz, A, Belliato, M, Bellissima, A, Beltramelli, R, Ben Souissi, A, Benitez-Cano, A, Benlamin, M, Benslama, A, Bento, L, Benvenuti, D, Bernabe, L, Bersten, A, Berta, G, Bertini, P, Bertram-Ralph, E, Besbes, M, Bettini, L, Beuret, P, Bewley, J, Bezzi, M, Bhakhtiani, L, Bhandary, R, Bhowmick, K, Bihari, S, Bissett, B, Blythe, D, Bocher, S, Boedjawan, N, Bojanowski, C, Boni, E, Boraso, S, Borelli, M, Borello, S, Borislavova, M, Bosma, K, Bottiroli, M, Boyd, O, Bozbay, S, Briva, A, Bruel, C, Bruni, A, Buehner, U, Bulpa, P, Burt, K, Buscot, M, Buttera, S, Cabrera, J, Caccese, R, Caironi, P, Canchos Gutierrez, I, Canedo, N, Cani, A, Cappellini, I, Carazo, J, Cardonnet, L, Carpio, D, Carriedo, D, Carrillo, R, Carvalho, J, Caser, E, Castelli, A, Castillo Quintero, M, Castro, H, Catorze, N, Cengiz, M, Cereijo, E, Ceunen, H, Chaintoutis, C, Chang, Y, Chaparro, G, Chapman, C, Chau, S, Chavez, C, Chelazzi, C, Chelly, J, Chemouni, F, Chen, K, Chena, A, Chiarandini, P, Chilton, P, Chiumello, D, Chou-Lie, Y, Chudeau, N, Cinel, I, Cinnella, G, Clark, M, Clark, T, Clementi, S, Coaguila, L, Codecido, A, Collins, A, Colombo, R, Conde, J, Consales, G, Cook, T, Coppadoro, A, Cornejo, R, Cortegiani, A, Coxo, C, Cracchiolo, A, Crespo Ramirez, M, Crova, P, Cruz, J, Cubattoli, L, Cukurova, Z, Curto, F, Czempik, P, D'Andrea, R, da Silva Ramos, F, Dangers, L, Danguy des Deserts, M, Danin, P, Dantas, F, Daubin, C, Dawei, W, de Haro, C, de Jesus Montelongo, F, De Mendoza, D, de Pablo, R, De Pascale, G, De Rosa, S, Decavele, M, Declercq, P, Deicas, A, del Carmen Campos Moreno, M, Dellamonica, J, Delmas, B, Demirkiran, O, Demirkiran, H, Dendane, T, di Mussi, R, Diakaki, C, Diaz, A, Diaz, W, Dikmen, Y, Dimoula, A, Doble, P, Doha, N, Domingos, G, Dres, M, Dries, D, Duggal, A, Duke, G, Dunts, P, Dybwik, K, Dykyy, M, Eckert, P, Efe, S, Elatrous, S, Elay, G, Elmaryul, A, Elsaadany, M, Elsayed, H, Elsayed, S, Emery, M, Ena, S, Eng, K, Englert, J, Erdogan, E, Ergin Ozcan, P, Eroglu, E, Escobar, M, Esen, F, Esen Tekeli, A, Esquivel, A, Esquivel Gallegos, H, Ezzouine, H, Facchini, A, Faheem, M, Fanelli, V, Farina, M, Fartoukh, M, Fehrle, L, Feng, F, Feng, Y, Fernandez, I, Fernandez, B, Fernandez-Rodriguez, M, Ferrando, C, Ferreira da Silva, M, Ferreruela, M, Ferrier, J, Flamm Zamorano, M, Flood, L, Floris, L, Fluckiger, M, Forteza, C, Fortunato, A, Frans, E, Frattari, A, Fredes, S, Frenzel, T, Fumagalli, R, Furche, M, Fusari, M, Fysh, E, Galeas-Lopez, J, Galerneau, L, Garcia, A, Garcia, M, Garcia, E, Garcia Olivares, P, Garlicki, J, Garnero, A, Garofalo, E, Gautam, P, Gazenkampf, A, Gelinotte, S, Gelormini, D, Ghrenassia, E, Giacomucci, A, Giannoni, R, Gigante, A, Glober, N, Gnesin, P, Gollo, Y, Gomaa, D, Gomero Paredes, R, Gomes, R, Gomez, R, Gomez, O, Gomez, A, Gondim, L, Gonzalez, M, Gonzalez, I, Gonzalez-Castro, A, Gordillo Romero, O, Gordo, F, Gouin, P, Graf Santos, J, Grainne, R, Grando, M, Granov Grabovica, S, Grasso, S, Grasso, R, Grimmer, L, Grissom, C, Gu, Q, Guan, X, Guarracino, F, Guasch, N, Guatteri, L, Gueret, R, Guerin, C, Guerot, E, Guitard, P, Gul, F, Gumus, A, Gurjar, M, Gutierrez, P, Hachimi, A, Hadzibegovic, A, Hagan, S, Hammel, C, Han Song, J, Hanlon, G, Heines, S, Henriksson, J, Herbrecht, J, Heredia Orbegoso, G, Hermon, A, Hernandez, R, Hernandez, C, Herrera, L, Herrera-Gutierrez, M, Hidalgo, J, Hill, D, Holmquist, D, Homez, M, Hongtao, X, Hormis, A, Horner, D, Hornos, M, Hou, M, House, S, Housni, B, Hugill, K, Humphreys, S, Humbert, L, Hunter, S, Hwa Young, L, Iezzi, N, Ilutovich, S, Inal, V, Innes, R, Ioannides, P, Iotti, G, Ippolito, M, Irie, H, Iriyama, H, Itagaki, T, Izura, J, Izza, S, Jabeen, R, Jamaati, H, Jamadarkhana, S, Jamoussi, A, Jankowski, M, Jaramillo, L, Jeon, K, Jeong Lee, S, Jeswani, D, Jha, S, Jiang, L, Jing, C, Jochmans, S, Johnstad, B, Jongmin, L, Joret, A, Junhasavasdikul, D, Jurado, M, Kam, E, Kamohara, H, Kane, C, Kara, I, Karakurt, S, Karnjanarachata, C, Kataoka, J, Katayama, S, Kaushik, S, Kelebek Girgin, N, Kerr, K, Kerslake, I, Khairnar, P, Khalid, A, Khan, A, Khanna, A, Khorasanee, R, Kienhorst, D, Kirakli, C, Knafelj, R, Kol, M, Kongpolprom, N, Kopitko, C, Korkmaz Ekren, P, Kubisz-Pudelko, A, Kulcsar, Z, Kumasawa, J, Kuriyama, A, Kutchak, F, Labarca, E, Labat, F, Laborda, C, Laca Barrera, M, Lagache, L, Landaverde Lopez, A, Lanspa, M, Lascari, V, Le Meur, M, Lee, S, Lee, Y, Lee, J, Lee, W, Legernaes, T, Leiner, T, Lemiale, V, Leonor, T, Lepper, P, Li, D, Li, H, Li, O, Lima, A, Lind, D, Litton, E, Liu, N, Liu, L, Liu, J, Llitjos, J, Llorente, B, Lopez, R, Lopez, C, Lopez Nava, C, Lovazzano, P, Lu, M, Lucchese, F, Lugano, M, Lugo Goytia, G, Luo, H, Lynch, C, Macheda, S, Madrigal Robles, V, Maggiore, S, Magret Iglesias, M, Malaga, P, Mallapura Maheswarappa, H, Malpartida, G, Malyarchikov, A, Mansson, H, Manzano, A, Marey, I, Marin, N, Marin, M, Markman, E, Martin, F, Martin, A, Martin Dal Gesso, C, Martinez, F, Martinez-Fidalgo, C, Martin-Loeches, I, Mas, A, Masaaki, S, Maseda, E, Massa, E, Mattsson, A, Maugeri, J, Mccredie, V, Mccullough, J, Mcguinness, S, Mckown, A, Medve, L, Mei, C, Mellado Artigas, R, Mendes, V, Mervat, M, Michaux, I, Mikhaeil, M, Milagros, O, Milet, I, Millan, M, Minwei, Z, Mirabella, L, Mishra, S, Mistraletti, G, Mochizuki, K, Moghal, A, Mojoli, F, Molin, A, Montiel, R, Montini, L, Monza, G, Mora Aznar, M, Morakul, S, Morales, M, Moreno Torres, D, Morocho Tutillo, D, Motherway, C, Mouhssine, D, Mouloudi, E, Munoz, T, Munoz de Cabo, C, Mustafa, M, Muthuchellappan, R, Muthukrishnan, M, Muttini, S, Nagata, I, Nahar, D, Nakanishi, M, Nakayama, I, Namendys-Silva, S, Nanchal, R, Nandakumar, S, Nasi, A, Nasir, K, Navalesi, P, Naz Aslam, T, Nga Phan, T, Nichol, A, Niiyama, S, Nikolakopoulou, S, Nikolic, E, Nitta, K, Noc, M, Nonas, S, Nseir, S, Nur Soyturk, A, Obata, Y, Oeckler, R, Oguchi, M, Ohshimo, S, Oikonomou, M, Ojados, A, Oliveira, M, Oliveira Filho, W, Oliveri, C, Olmos, A, Omura, K, Orlandi, M, Orsenigo, F, Ortiz-Ruiz De Gordoa, L, Ota, K, Ovalle Olmos, R, Oveges, N, Oziemski, P, Ozkan Kuscu, O, Pachas Alvarado, F, Pagella, G, Palaniswamy, V, Palazon Sanchez, E, Palmese, S, Pan, G, Pan, W, Papanikolaou, M, Papavasilopoulou, T, Parekh, A, Parke, R, Parrilla, F, Parrilla, D, Pasha, T, Pasin, L, Patao, L, Patel, M, Patel, G, Pati, B, Patil, J, Pattnaik, S, Paul, D, Pavesi, M, Pavlotsky, V, Paz, G, Paz, E, Pecci, E, Pellegrini, C, Pena Padilla, A, Perchiazzi, G, Pereira, T, Pereira, V, Perez, M, Perez Calvo, C, Perez Cheng, M, Perez Maita, R, Perez-Araos, R, Perez-Teran, P, Perez-Torres, D, Perkins, G, Persona, P, Petnak, T, Petrova, M, Philippart, F, Picetti, E, Pierucci, E, Piervincenzi, E, Pinciroli, R, Pintado, M, Piraino, T, Piras, S, Piras, C, Pirompanich, P, Pisani, L, Platas, E, Plotnikow, G, Porras, W, Porta, V, Portilla, M, Portugal, J, Povoa, P, Prat, G, Pratto, R, Preda, G, Prieto, I, Prol-Silva, E, Pugh, R, Qi, Y, Qian, C, Qin, T, Qu, H, Quintana, T, Quispe Sierra, R, Quispe Soto, R, Rabbani, R, Rabee, M, Rabie, A, Rahe Pereira, M, Rai, A, Raj Ashok, S, Rajab, M, Ramdhani, N, Ramey, E, Ranieri, M, Rathod, D, Ray, B, Redwanul Huq, S, Regli, A, Reina, R, Resano Sarmiento, N, Reynaud, F, Rialp, G, Ricart, P, Rice, T, Richardson, A, Rieder, M, Rinket, M, Rios, F, Risso Vazquez, A, Riva, I, Rivette, M, Roca, O, Roche-Campo, F, Rodriguez, C, Rodriguez, G, Rodriguez Gonzalez, D, Rodriguez Tucto, X, Rogers, A, Romano, M, Rortveit, L, Rose, A, Roux, D, Rouze, A, Rubatto Birri, P, Ruilan, W, Ruiz Robledo, A, Ruiz-Aguilar, A, Sadahiro, T, Saez, I, Sagardia, J, Saha, R, Saiphoklang, N, Saito, S, Salem, M, Sales, G, Salgado, P, Samavedam, S, Sami Mebazaa, M, Samuelsson, L, San Juan Roman, N, Sanchez, P, Sanchez-Ballesteros, J, Sandoval, Y, Sani, E, Santos, M, Santos, C, Sanui, M, Saravanabavan, L, Sari, S, Sarkany, A, Sauneuf, B, Savioli, M, Sazak, H, Scano, R, Schneider, F, Schortgen, F, Schultz, M, Schwarz, G, Seckin Yucesoy, F, Seely, A, Seiler, F, Seker Tekdos, Y, Seok Chan, K, Serano, L, Serednicki, W, Setten, M, Shah, A, Shah, B, Shang, Y, Shanmugasundaram, P, Shapovalov, K, Shebl, E, Shiga, T, Shime, N, Shin, P, Short, J, Shuhua, C, Siddiqui, S, Silesky Jimenez, J, Silva, D, Silva Sales, B, Simons, K, Sjobo, B, Slessor, D, Smiechowicz, J, Smischney, N, Smith, P, Smith, T, Smith, M, Snape, S, Snyman, L, Soetens, F, Sook Hong, K, Sosa Medellin, M, Soto, G, Souloy, X, Sousa, E, Sovatzis, S, Sozutek, D, Spadaro, S, Spagnoli, M, Spangfors, M, Spittle, N, Spivey, M, Stapleton, A, Stefanovic, B, Stephenson, L, Stevenson, E, Strand, K, Strano, M, Straus, S, Sun, C, Sun, R, Sundaram, V, Sunpark, T, Surlemont, E, Sutherasan, Y, Szabo, Z, Tainter, C, Takaba, A, Tallott, M, Tamasato, T, Tang, Z, Tangsujaritvijit, V, Taniguchi, L, Taniguchi, D, Tarantino, F, Teerapuncharoen, K, Temprano, S, Terragni, P, Terzi, N, Thakur, A, Theerawit, P, Thille, A, Thomas, M, Thungtitigul, P, Thyrault, M, Tilouch, N, Timenetsky, K, Tirapu, J, Todeschini, M, Tomas, R, Tomaszewski, C, Tonetti, T, Tonnelier, A, Trinder, J, Trongtrakul, K, Truwit, J, Tsuei, B, Tulaimat, A, Turan, S, Turkoglu, M, Tyagi, S, Ubeda, A, Vagginelli, F, Valenti, M, Vallverdu, I, Van Axel, A, van den Hul, I, van der Hoeven, H, Van Der Meer, N, Vanhoof, M, Vargas-Ordonez, M, Vaschetto, R, Vascotto, E, Vatsik, M, Vaz, A, Vazquez-Sanchez, A, Ventura, S, Vermeijden, J, Vidal, A, Vieira, J, Vilela Costa Pinto, B, Villagra, A, Villegas Succar, C, Vinorum, O, Vitale, G, Vj, R, Vochin, A, Voiriot, G, Volta, C, von Seth, M, Wajdi, M, Walsh, D, Wang, S, Wardi, G, Ween-Velken, N, Wei, B, Weller, D, Welsh, D, Welters, I, Wert, M, Whiteley, S, Wilby, E, Williams, E, Williams, K, Wilson, A, Wojtas, J, Won Huh, J, Wrathall, D, Wright, C, Wu, J, Xi, G, Xing, Z, Xu, H, Yamamoto, K, Yan, J, Yanez, J, Yang, X, Yates, E, Yazicioglu Mocin, O, Ye, Z, Yildirim, F, Yoshida, N, Yoshido, H, Young Lee, B, Yu, R, Yu, G, Yu, T, Yuan, B, Yuangtrakul, N, Yumoto, T, Yun, X, Zakalik, G, Zaki, A, Zalba-Etayo, B, Zambon, M, Zang, B, Zani, G, Zarka, J, Zerbi, S, Zerman, A, Zetterquist, H, Zhang, J, Zhang, H, Zhang, W, Zhang, G, Zhao, H, Zheng, J, Zhu, B, Zumaran, R, Pham T., Heunks L., Bellani G., Madotto F., Aragao I., Beduneau G., Goligher E. 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Llorente, B, Lopez, R, Lopez, C, Lopez Nava, C, Lovazzano, P, Lu, M, Lucchese, F, Lugano, M, Lugo Goytia, G, Luo, H, Lynch, C, Macheda, S, Madrigal Robles, V, Maggiore, S, Magret Iglesias, M, Malaga, P, Mallapura Maheswarappa, H, Malpartida, G, Malyarchikov, A, Mansson, H, Manzano, A, Marey, I, Marin, N, Marin, M, Markman, E, Martin, F, Martin, A, Martin Dal Gesso, C, Martinez, F, Martinez-Fidalgo, C, Martin-Loeches, I, Mas, A, Masaaki, S, Maseda, E, Massa, E, Mattsson, A, Maugeri, J, Mccredie, V, Mccullough, J, Mcguinness, S, Mckown, A, Medve, L, Mei, C, Mellado Artigas, R, Mendes, V, Mervat, M, Michaux, I, Mikhaeil, M, Milagros, O, Milet, I, Millan, M, Minwei, Z, Mirabella, L, Mishra, S, Mistraletti, G, Mochizuki, K, Moghal, A, Mojoli, F, Molin, A, Montiel, R, Montini, L, Monza, G, Mora Aznar, M, Morakul, S, Morales, M, Moreno Torres, D, Morocho Tutillo, D, Motherway, C, Mouhssine, D, Mouloudi, E, Munoz, T, Munoz de Cabo, C, Mustafa, M, Muthuchellappan, R, Muthukrishnan, M, Muttini, S, Nagata, I, Nahar, D, Nakanishi, M, Nakayama, I, Namendys-Silva, S, Nanchal, R, Nandakumar, S, Nasi, A, Nasir, K, Navalesi, P, Naz Aslam, T, Nga Phan, T, Nichol, A, Niiyama, S, Nikolakopoulou, S, Nikolic, E, Nitta, K, Noc, M, Nonas, S, Nseir, S, Nur Soyturk, A, Obata, Y, Oeckler, R, Oguchi, M, Ohshimo, S, Oikonomou, M, Ojados, A, Oliveira, M, Oliveira Filho, W, Oliveri, C, Olmos, A, Omura, K, Orlandi, M, Orsenigo, F, Ortiz-Ruiz De Gordoa, L, Ota, K, Ovalle Olmos, R, Oveges, N, Oziemski, P, Ozkan Kuscu, O, Pachas Alvarado, F, Pagella, G, Palaniswamy, V, Palazon Sanchez, E, Palmese, S, Pan, G, Pan, W, Papanikolaou, M, Papavasilopoulou, T, Parekh, A, Parke, R, Parrilla, F, Parrilla, D, Pasha, T, Pasin, L, Patao, L, Patel, M, Patel, G, Pati, B, Patil, J, Pattnaik, S, Paul, D, Pavesi, M, Pavlotsky, V, Paz, G, Paz, E, Pecci, E, Pellegrini, C, Pena Padilla, A, Perchiazzi, G, Pereira, T, Pereira, V, Perez, M, Perez Calvo, C, Perez Cheng, M, Perez Maita, R, Perez-Araos, R, Perez-Teran, P, Perez-Torres, D, Perkins, G, Persona, P, Petnak, T, Petrova, M, Philippart, F, Picetti, E, Pierucci, E, Piervincenzi, E, Pinciroli, R, Pintado, M, Piraino, T, Piras, S, Piras, C, Pirompanich, P, Pisani, L, Platas, E, Plotnikow, G, Porras, W, Porta, V, Portilla, M, Portugal, J, Povoa, P, Prat, G, Pratto, R, Preda, G, Prieto, I, Prol-Silva, E, Pugh, R, Qi, Y, Qian, C, Qin, T, Qu, H, Quintana, T, Quispe Sierra, R, Quispe Soto, R, Rabbani, R, Rabee, M, Rabie, A, Rahe Pereira, M, Rai, A, Raj Ashok, S, Rajab, M, Ramdhani, N, Ramey, E, Ranieri, M, Rathod, D, Ray, B, Redwanul Huq, S, Regli, A, Reina, R, Resano Sarmiento, N, Reynaud, F, Rialp, G, Ricart, P, Rice, T, Richardson, A, Rieder, M, Rinket, M, Rios, F, Risso Vazquez, A, Riva, I, Rivette, M, Roca, O, Roche-Campo, F, Rodriguez, C, Rodriguez, G, Rodriguez Gonzalez, D, Rodriguez Tucto, X, Rogers, A, Romano, M, Rortveit, L, Rose, A, Roux, D, Rouze, A, Rubatto Birri, P, Ruilan, W, Ruiz Robledo, A, Ruiz-Aguilar, A, Sadahiro, T, Saez, I, Sagardia, J, Saha, R, Saiphoklang, N, Saito, S, Salem, M, Sales, G, Salgado, P, Samavedam, S, Sami Mebazaa, M, Samuelsson, L, San Juan Roman, N, Sanchez, P, Sanchez-Ballesteros, J, Sandoval, Y, Sani, E, Santos, M, Santos, C, Sanui, M, Saravanabavan, L, Sari, S, Sarkany, A, Sauneuf, B, Savioli, M, Sazak, H, Scano, R, Schneider, F, Schortgen, F, Schultz, M, Schwarz, G, Seckin Yucesoy, F, Seely, A, Seiler, F, Seker Tekdos, Y, Seok Chan, K, Serano, L, Serednicki, W, Setten, M, Shah, A, Shah, B, Shang, Y, Shanmugasundaram, P, Shapovalov, K, Shebl, E, Shiga, T, Shime, N, Shin, P, Short, J, Shuhua, C, Siddiqui, S, Silesky Jimenez, J, Silva, D, Silva Sales, B, Simons, K, Sjobo, B, Slessor, D, Smiechowicz, J, Smischney, N, Smith, P, Smith, T, Smith, M, Snape, S, Snyman, L, Soetens, F, Sook Hong, K, Sosa Medellin, M, Soto, G, Souloy, X, Sousa, E, Sovatzis, S, Sozutek, D, Spadaro, S, Spagnoli, M, Spangfors, M, Spittle, N, Spivey, M, Stapleton, A, Stefanovic, B, Stephenson, L, Stevenson, E, Strand, K, Strano, M, Straus, S, Sun, C, Sun, R, Sundaram, V, Sunpark, T, Surlemont, E, Sutherasan, Y, Szabo, Z, Tainter, C, Takaba, A, Tallott, M, Tamasato, T, Tang, Z, Tangsujaritvijit, V, Taniguchi, L, Taniguchi, D, Tarantino, F, Teerapuncharoen, K, Temprano, S, Terragni, P, Terzi, N, Thakur, A, Theerawit, P, Thille, A, Thomas, M, Thungtitigul, P, Thyrault, M, Tilouch, N, Timenetsky, K, Tirapu, J, Todeschini, M, Tomas, R, Tomaszewski, C, Tonetti, T, Tonnelier, A, Trinder, J, Trongtrakul, K, Truwit, J, Tsuei, B, Tulaimat, A, Turan, S, Turkoglu, M, Tyagi, S, Ubeda, A, Vagginelli, F, Valenti, M, Vallverdu, I, Van Axel, A, van den Hul, I, van der Hoeven, H, Van Der Meer, N, Vanhoof, M, Vargas-Ordonez, M, Vaschetto, R, Vascotto, E, Vatsik, M, Vaz, A, Vazquez-Sanchez, A, Ventura, S, Vermeijden, J, Vidal, A, Vieira, J, Vilela Costa Pinto, B, Villagra, A, Villegas Succar, C, Vinorum, O, Vitale, G, Vj, R, Vochin, A, Voiriot, G, Volta, C, von Seth, M, Wajdi, M, Walsh, D, Wang, S, Wardi, G, Ween-Velken, N, Wei, B, Weller, D, Welsh, D, Welters, I, Wert, M, Whiteley, S, Wilby, E, Williams, E, Williams, K, Wilson, A, Wojtas, J, Won Huh, J, Wrathall, D, Wright, C, Wu, J, Xi, G, Xing, Z, Xu, H, Yamamoto, K, Yan, J, Yanez, J, Yang, X, Yates, E, Yazicioglu Mocin, O, Ye, Z, Yildirim, F, Yoshida, N, Yoshido, H, Young Lee, B, Yu, R, Yu, G, Yu, T, Yuan, B, Yuangtrakul, N, Yumoto, T, Yun, X, Zakalik, G, Zaki, A, Zalba-Etayo, B, Zambon, M, Zang, B, Zani, G, Zarka, J, Zerbi, S, Zerman, A, Zetterquist, H, Zhang, J, Zhang, H, Zhang, W, Zhang, G, Zhao, H, Zheng, J, Zhu, B, Zumaran, R, Pham T., Heunks L., Bellani G., Madotto F., Aragao I., Beduneau G., Goligher E. C., Grasselli G., Laake J. H., Mancebo J., Penuelas O., Piquilloud L., Pesenti A., Wunsch H., van Haren F., Brochard L., Laffey J. G., Abrough F., Acharya S. P., Amin P., Arabi Y., Bauer P., Beitler J., Berkius J., Bugedo G., Camporota L., Cerny V., Cho Y. -J., Clarkson K., Estenssoro E., Goligher E., Gritsan A., Hashemian S. M., Hermans G., Heunks L. M., Jovanovic B., Kurahashi K., Matamis D., Moerer O., Molnar Z., Ozyilmaz E., Panka B., Papali A., Perbet S., Qiu H., Razek A. A., Rittayamai N., Roldan R., Serpa Neto A., Szuldrzynski K., Talmor D., Tomescu D., Villagomez A., Zeggwagh A. A., Abe T., Aboshady A., Acampo-de Jong M., Acharya S., Adderley J., Adiguzel N., Agrawal V. K., Aguilar G., Aguirre G., Aguirre-Bermeo H., Ahlstrom B., Akbas T., Akker M., Al Sadeh G., Alamri S., Algaba A., Ali M., Aliberti A., Allegue J. M., Alvarez D., Amador J., Andersen F. H., Ansari S., Apichatbutr Y., Apostolopoulou O., Arellano D., Arica M., Arikan H., Arinaga K., Arnal J. -M., Asano K., Asin-Corrochano M., Avalos Cabrera J. M., Avila Fuentes S., Aydemir S., Aygencel G., Azevedo L., Bacakoglu F., Badie J., Baedorf Kassis E., Bai G., Balaraj G., Ballico B., Banner-Goodspeed V., Banwarie P., Barbieri R., Baronia A., Barrett J., Barrot L., Barrueco-Francioni J. E., Barry J., Bawangade H., Beavis S., Beck E., Beehre N., Belenguer Muncharaz A., Belliato M., Bellissima A., Beltramelli R., Ben Souissi A., Benitez-Cano A., Benlamin M., Benslama A., Bento L., Benvenuti D., Bernabe L., Bersten A., Berta G., Bertini P., Bertram-Ralph E., Besbes M., Bettini L. R., Beuret P., Bewley J., Bezzi M., Bhakhtiani L., Bhandary R., Bhowmick K., Bihari S., Bissett B., Blythe D., Bocher S., Boedjawan N., Bojanowski C. M., Boni E., Boraso S., Borelli M., Borello S., Borislavova M., Bosma K. J., Bottiroli M., Boyd O., Bozbay S., Briva A., Bruel C., Bruni A., Buehner U., Bulpa P., Burt K., Buscot M., Buttera S., Cabrera J., Caccese R., Caironi P., Canchos Gutierrez I., Canedo N., Cani A., Cappellini I., Carazo J., Cardonnet L. P., Carpio D., Carriedo D., Carrillo R., Carvalho J., Caser E., Castelli A., Castillo Quintero M., Castro H., Catorze N., Cengiz M., Cereijo E., Ceunen H., Chaintoutis C., Chang Y., Chaparro G., Chapman C., Chau S., Chavez C. E., Chelazzi C., Chelly J., Chemouni F., Chen K., Chena A., Chiarandini P., Chilton P., Chiumello D., Chou-Lie Y., Chudeau N., Cinel I., Cinnella G., Clark M., Clark T., Clementi S., Coaguila L., Codecido A. J., Collins A., Colombo R., Conde J., Consales G., Cook T., Coppadoro A., Cornejo R., Cortegiani A., Coxo C., Cracchiolo A. N., Crespo Ramirez M., Crova P., Cruz J., Cubattoli L., Cukurova Z., Curto F., Czempik P., D'Andrea R., da Silva Ramos F., Dangers L., Danguy des Deserts M., Danin P. -E., Dantas F., Daubin C., Dawei W., de Haro C., de Jesus Montelongo F., De Mendoza D., de Pablo R., De Pascale G., De Rosa S., Decavele M., Declercq P. -L., Deicas A., del Carmen Campos Moreno M., Dellamonica J., Delmas B., Demirkiran O., Demirkiran H., Dendane T., di Mussi R., Diakaki C., Diaz A., Diaz W., Dikmen Y., Dimoula A., Doble P., Doha N., Domingos G., Dres M., Dries D., Duggal A., Duke G., Dunts P., Dybwik K., Dykyy M., Eckert P., Efe S., Elatrous S., Elay G., Elmaryul A. S., Elsaadany M., Elsayed H., Elsayed S., Emery M., Ena S., Eng K., Englert J. A., Erdogan E., Ergin Ozcan P., Eroglu E., Escobar M., Esen F., Esen Tekeli A., Esquivel A., Esquivel Gallegos H., Ezzouine H., Facchini A., Faheem M., Fanelli V., Farina M. F., Fartoukh M., Fehrle L., Feng F., Feng Y., Fernandez I., Fernandez B., Fernandez-Rodriguez M. L., Ferrando C., Ferreira da Silva M. J., Ferreruela M., Ferrier J., Flamm Zamorano M. J., Flood L., Floris L., Fluckiger M., Forteza C., Fortunato A., Frans E., Frattari A., Fredes S., Frenzel T., Fumagalli R., Furche M. A., Fusari M., Fysh E., Galeas-Lopez J. L., Galerneau L. -M., Garcia A., Garcia M. F., Garcia E., Garcia Olivares P., Garlicki J., Garnero A., Garofalo E., Gautam P., Gazenkampf A., Gelinotte S., Gelormini D., Ghrenassia E., Giacomucci A., Giannoni R., Gigante A., Glober N., Gnesin P., Gollo Y., Gomaa D., Gomero Paredes R., Gomes R., Gomez R. A., Gomez O., Gomez A., Gondim L., Gonzalez M., Gonzalez I., Gonzalez-Castro A., Gordillo Romero O., Gordo F., Gouin P., Graf Santos J., Grainne R., Grando M., Granov Grabovica S., Grasso S., Grasso R., Grimmer L., Grissom C., Gu Q., Guan X. -D., Guarracino F., Guasch N., Guatteri L., Gueret R., Guerin C., Guerot E., Guitard P. -G., Gul F., Gumus A., Gurjar M., Gutierrez P., Hachimi A., Hadzibegovic A., Hagan S., Hammel C., Han Song J., Hanlon G., Heines S., Henriksson J., Herbrecht J. -E., Heredia Orbegoso G. O., Hermon A., Hernandez R., Hernandez C., Herrera L., Herrera-Gutierrez M., Hidalgo J., Hill D., Holmquist D., Homez M., Hongtao X., Hormis A., Horner D., Hornos M. C., Hou M., House S., Housni B., Hugill K., Humphreys S., Humbert L., Hunter S., Hwa Young L., Iezzi N., Ilutovich S., Inal V., Innes R., Ioannides P., Iotti G. A., Ippolito M., Irie H., Iriyama H., Itagaki T., Izura J., Izza S., Jabeen R., Jamaati H., Jamadarkhana S., Jamoussi A., Jankowski M., Jaramillo L. A., Jeon K., Jeong Lee S., Jeswani D., Jha S., Jiang L., Jing C., Jochmans S., Johnstad B. A., Jongmin L., Joret A., Junhasavasdikul D., Jurado M. T., Kam E., Kamohara H., Kane C., Kara I., Karakurt S., Karnjanarachata C., Kataoka J., Katayama S., Kaushik S., Kelebek Girgin N., Kerr K., Kerslake I., Khairnar P., Khalid A., Khan A., Khanna A. K., Khorasanee R., Kienhorst D., Kirakli C., Knafelj R., Kol M. K., Kongpolprom N., Kopitko C., Korkmaz Ekren P., Kubisz-Pudelko A., Kulcsar Z., Kumasawa J., Kuriyama A., Kutchak F., Labarca E., Labat F., Laborda C., Laca Barrera M. A., Lagache L., Landaverde Lopez A., Lanspa M., Lascari V., Le Meur M., Lee S. H., Lee Y. J., Lee J., Lee W. -Y., Legernaes T., Leiner T., Lemiale V., Leonor T., Lepper P. M., Li D., Li H., Li O., Lima A. R., Lind D., Litton E., Liu N., Liu L., Liu J., Llitjos J. -F., Llorente B., Lopez R., Lopez C. E., Lopez Nava C., Lovazzano P., Lu M., Lucchese F., Lugano M., Lugo Goytia G., Luo H., Lynch C., Macheda S., Madrigal Robles V. H., Maggiore S. M., Magret Iglesias M., Malaga P., Mallapura Maheswarappa H., Malpartida G., Malyarchikov A., Mansson H., Manzano A., Marey I., Marin N., Marin M. D. C., Markman E., Martin F., Martin A., Martin Dal Gesso C., Martinez F., Martinez-Fidalgo C., Martin-Loeches I., Mas A., Masaaki S., Maseda E., Massa E., Mattsson A., Maugeri J., McCredie V., McCullough J., McGuinness S., McKown A., Medve L., Mei C., Mellado Artigas R., Mendes V., Mervat M. K. E., Michaux I., Mikhaeil M., Milagros O., Milet I., Millan M. T., Minwei Z., Mirabella L., Mishra S., Mistraletti G., Mochizuki K., Moghal A., Mojoli F., Molin A., Montiel R., Montini L., Monza G., Mora Aznar M., Morakul S., Morales M., Moreno Torres D., Morocho Tutillo D. R., Motherway C., Mouhssine D., Mouloudi E., Munoz T., Munoz de Cabo C., Mustafa M., Muthuchellappan R., Muthukrishnan M., Muttini S., Nagata I., Nahar D., Nakanishi M., Nakayama I., Namendys-Silva S. A., Nanchal R., Nandakumar S., Nasi A., Nasir K., Navalesi P., Naz Aslam T., Nga Phan T., Nichol A., Niiyama S., Nikolakopoulou S., Nikolic E., Nitta K., Noc M., Nonas S., Nseir S., Nur Soyturk A., Obata Y., Oeckler R., Oguchi M., Ohshimo S., Oikonomou M., Ojados A., Oliveira M. T., Oliveira Filho W., Oliveri C., Olmos A., Omura K., Orlandi M. C., Orsenigo F., Ortiz-Ruiz De Gordoa L., Ota K., Ovalle Olmos R., Oveges N., Oziemski P., Ozkan Kuscu O., Pachas Alvarado F., Pagella G., Palaniswamy V., Palazon Sanchez E. L., Palmese S., Pan G., Pan W., Papanikolaou M., Papavasilopoulou T., Parekh A., Parke R., Parrilla F. J., Parrilla D., Pasha T., Pasin L., Patao L., Patel M., Patel G., Pati B. K., Patil J., Pattnaik S., Paul D., Pavesi M., Pavlotsky V. A., Paz G., Paz E., Pecci E., Pellegrini C., Pena Padilla A. G., Perchiazzi G., Pereira T., Pereira V., Perez M., Perez Calvo C., Perez Cheng M., Perez Maita R., Perez-Araos R., Perez-Teran P., Perez-Torres D., Perkins G., Persona P., Petnak T., Petrova M., Philippart F., Picetti E., Pierucci E., Piervincenzi E., Pinciroli R., Pintado M. -C., Piraino T., Piras S., Piras C., Pirompanich P., Pisani L., Platas E., Plotnikow G., Porras W., Porta V., Portilla M., Portugal J., Povoa P., Prat G., Pratto R., Preda G., Prieto I., Prol-Silva E., Pugh R., Qi Y., Qian C., Qin T., Qu H., Quintana T., Quispe Sierra R., Quispe Soto R., Rabbani R., Rabee M., Rabie A., Rahe Pereira M. A., Rai A., Raj Ashok S., Rajab M., Ramdhani N., Ramey E., Ranieri M., Rathod D., Ray B., Redwanul Huq S. M., Regli A., Reina R., Resano Sarmiento N., Reynaud F., Rialp G., Ricart P., Rice T., Richardson A., Rieder M., Rinket M., Rios F., Risso Vazquez A., Riva I., Rivette M., Roca O., Roche-Campo F., Rodriguez C., Rodriguez G., Rodriguez Gonzalez D., Rodriguez Tucto X. Y., Rogers A., Romano M. E., Rortveit L., Rose A., Roux D., Rouze A., Rubatto Birri P. N., Ruilan W., Ruiz Robledo A., Ruiz-Aguilar A. L., Sadahiro T., Saez I., Sagardia J., Saha R., Saiphoklang N., Saito S., Salem M., Sales G., Salgado P., Samavedam S., Sami Mebazaa M., Samuelsson L., San Juan Roman N., Sanchez P., Sanchez-Ballesteros J., Sandoval Y., Sani E., Santos M., Santos C., Sanui M., Saravanabavan L., Sari S., Sarkany A., Sauneuf B., Savioli M., Sazak H., Scano R., Schneider F., Schortgen F., Schultz M. J., Schwarz G. L., Seckin Yucesoy F., Seely A., Seiler F., Seker Tekdos Y., Seok Chan K., Serano L., Serednicki W., Setten M., Shah A., Shah B., Shang Y., Shanmugasundaram P., Shapovalov K., Shebl E., Shiga T., Shime N., Shin P., Short J., Shuhua C., Siddiqui S., Silesky Jimenez J. I., Silva D., Silva Sales B., Simons K., Sjobo B. A., Slessor D., Smiechowicz J., Smischney N., Smith P., Smith T., Smith M., Snape S., Snyman L., Soetens F., Sook Hong K., Sosa Medellin M. A., Soto G., Souloy X., Sousa E., Sovatzis S., Sozutek D., Spadaro S., Spagnoli M., Spangfors M., Spittle N., Spivey M., Stapleton A., Stefanovic B., Stephenson L., Stevenson E., Strand K., Strano M. T., Straus S., Sun C., Sun R., Sundaram V., SunPark T., Surlemont E., Sutherasan Y., Szabo Z., Tainter C., Takaba A., Tallott M., Tamasato T., Tang Z., Tangsujaritvijit V., Taniguchi L., Taniguchi D., Tarantino F., Teerapuncharoen K., Temprano S., Terragni P., Terzi N., Thakur A., Theerawit P., Thille A. W., Thomas M., Thungtitigul P., Thyrault M., Tilouch N., Timenetsky K., Tirapu J., Todeschini M., Tomas R., Tomaszewski C., Tonetti T., Tonnelier A., Trinder J., Trongtrakul K., Truwit J., Tsuei B., Tulaimat A., Turan S., Turkoglu M., Tyagi S., Ubeda A., Vagginelli F., Valenti M. F., Vallverdu I., Van Axel A., van den Hul I., van der Hoeven H., Van Der Meer N., Vanhoof M., Vargas-Ordonez M., Vaschetto R., Vascotto E., Vatsik M., Vaz A., Vazquez-Sanchez A., Ventura S., Vermeijden J. W., Vidal A., Vieira J., Vilela Costa Pinto B., Villagra A., Villegas Succar C., Vinorum O. G., Vitale G., Vj R., Vochin A., Voiriot G., Volta C. A., von Seth M., Wajdi M., Walsh D., Wang S., Wardi G., Ween-Velken N. C., Wei B. -L., Weller D., Welsh D., Welters I., Wert M., Whiteley S., Wilby E., Williams E., Williams K., Wilson A., Wojtas J., Won Huh J., Wrathall D., Wright C., Wu J. -F., Xi G., Xing Z. -J., Xu H., Yamamoto K., Yan J., Yanez J., Yang X., Yates E., Yazicioglu Mocin O., Ye Z., Yildirim F., Yoshida N., Yoshido H. H. L., Young Lee B., Yu R., Yu G., Yu T., Yuan B., Yuangtrakul N., Yumoto T., Yun X., Zakalik G., Zaki A., Zalba-Etayo B., Zambon M., Zang B., Zani G., Zarka J., Zerbi S. M., Zerman A., Zetterquist H., Zhang J., Zhang H., Zhang W., Zhang G., Zhao H., Zheng J., Zhu B., and Zumaran R.

Abstract

Background: Current management practices and outcomes in weaning from invasive mechanical ventilation are poorly understood. We aimed to describe the epidemiology, management, timings, risk for failure, and outcomes of weaning in patients requiring at least 2 days of invasive mechanical ventilation. Methods: WEAN SAFE was an international, multicentre, prospective, observational cohort study done in 481 intensive care units in 50 countries. Eligible participants were older than 16 years, admitted to a participating intensive care unit, and receiving mechanical ventilation for 2 calendar days or longer. We defined weaning initiation as the first attempt to separate a patient from the ventilator, successful weaning as no reintubation or death within 7 days of extubation, and weaning eligibility criteria based on positive end-expiratory pressure, fractional concentration of oxygen in inspired air, and vasopressors. The primary outcome was the proportion of patients successfully weaned at 90 days. Key secondary outcomes included weaning duration, timing of weaning events, factors associated with weaning delay and weaning failure, and hospital outcomes. This study is registered with ClinicalTrials.gov, NCT03255109. Findings: Between Oct 4, 2017, and June 25, 2018, 10 232 patients were screened for eligibility, of whom 5869 were enrolled. 4523 (77·1%) patients underwent at least one separation attempt and 3817 (65·0%) patients were successfully weaned from ventilation at day 90. 237 (4·0%) patients were transferred before any separation attempt, 153 (2·6%) were transferred after at least one separation attempt and not successfully weaned, and 1662 (28·3%) died while invasively ventilated. The median time from fulfilling weaning eligibility criteria to first separation attempt was 1 day (IQR 0–4), and 1013 (22·4%) patients had a delay in initiating first separation of 5 or more days. Of the 4523 (77·1%) patients with separation attempts, 2927 (64·7%) had a short wean (≤1 d

Published
2023

10. List of contributors

Author

Aadil, Rana Muhammad, primary, Adegoke, Samuel Chetachukwu, additional, Ahmad, Aziz, additional, Ahmad, Talha, additional, Ahmad Magry, Muneer, additional, Ahmed, Waqar, additional, Aksun Tümerkan, Elif Tuğçe, additional, Ala-Rämi, Katariina, additional, Albuquerque, Marcela Albuquerque Cavalcanti de, additional, Albuquerque, Tânia Gonçalves, additional, Alexandri, Maria, additional, Álvarez-Castillo, Estefanía, additional, Alves, Rita Carneiro, additional, Annegowda, H.V., additional, Ascenso, A., additional, Ayala-Zavala, J. Fernando, additional, Barragán-Huerta, Blanca E., additional, Barretti, Barbara Ruivo Valio, additional, Bengoechea, Carlos, additional, Bento, M., additional, Bhat, Rajeev, additional, Bhushan, Brij, additional, Bhuyan, Nilutpal, additional, Blaise, D., additional, Brooks, Marianne Su-Ling, additional, Caligiani, Augusta, additional, Campos-Vega, Rocio, additional, Carvalheiro, M., additional, Cavalheiro, Carlos Pasqualin, additional, Ceballos-Duque, S.M., additional, Chakkaravarthi, Saravanan, additional, Choo, Wee Sim, additional, Choudhury, Nabajit Dev, additional, Chuah, Wei Chean, additional, Chuen, Ng Lee, additional, Chye, Fook Yee, additional, Costa, A., additional, Costa, Helena S., additional, da Cruz, Adriano Gomes, additional, da Silva, Maurício Costa Alves, additional, da Silva Araújo, Íris Braz, additional, de Carvalho, Julio Cesar, additional, de Medeiros, Igor Ucella Dantas, additional, de Moreno de LeBlanc, Alejandra, additional, de Souza, Simone Lorena Quitério, additional, Dey, Gargi, additional, do Nascimento Alves, Rerisson, additional, Dufoo-Hurtado, Elisa, additional, Enríquez-Valencia, Salma A., additional, Faria-Silva, A.C., additional, Felix, Manuel, additional, Fichtner, Maximilian, additional, Fierascu, Irina, additional, Fierascu, Radu Claudiu, additional, Fowler, Scott W., additional, Franco, Bernadette Dora Gombossy de Melo, additional, Garcia-Ortega, Maria Patricia Guerrero, additional, Ghazali, Mohd Sabri Mohd, additional, Gonçalves, L.M., additional, González, Almudena González, additional, González-Aguilar, Gustavo A., additional, Gore, Anil H., additional, Goswami, Luna, additional, Goula, Athanasia M., additional, Guerrero, Antonio, additional, Guimarães, Jonas Toledo, additional, Gunjal, Datta B., additional, Gutiérrez-Macías, Paulina, additional, Hassim, Muhamad Fairus Noor, additional, Herrero, Ana M., additional, Jinadasa, B.K.K.K., additional, Kataki, Rupam, additional, Khan, Moazzam Rafiq, additional, Kikas, Timo, additional, Kloth, Marcela, additional, Kolekar, Govind B., additional, Kourmentza, Konstantina, additional, Koutinas, Apostolis, additional, Krebsz, Melinda, additional, Krishna C. Doddapaneni, Tharaka Rama, additional, Kumar, Sonia, additional, Lacerda, Luiz Gustavo, additional, LeBlanc, Jean Guy, additional, Lehtinen, Ulla, additional, Leni, Giulia, additional, Leong, Boon Fung, additional, Long, Jade M., additional, Lopez, Christelle, additional, López-Martínez, Leticia X., additional, Luzardo-Ocampo, Ivan, additional, Macedo, Gabriela A., additional, Maicas, Sergi, additional, Maina, Sofia, additional, Majumder, Pulak, additional, Maldonado-Celis, Ma. Elena, additional, Marques, M., additional, Marto, J., additional, Mateo, José Juan, additional, Minakshi, Manickam, additional, Mirón-Mérida, Vicente A., additional, Mohan, Anand, additional, Moreda-Piñeiro, Antonio, additional, Moreira Fernandes Santos, Miriane, additional, Naik, Vaibhav M., additional, Narula, Sapna A., additional, Narzari, Rumi, additional, Nayak, Arunima, additional, Nikoo, Mehdi, additional, Nille, Omkar S., additional, Nunes, Patrícia, additional, Oliveira, M. Beatriz P.P., additional, Oomah, B. Dave, additional, Paiva, A., additional, Panda, Sandeep K., additional, Papapostolou, Harris, additional, Pasinszki, Tibor, additional, Patil, Akshay S., additional, Pereira Da Silva, Fábio Anderson, additional, Pharino, Chanathip, additional, Pimentel, Tatiana Colombo, additional, Ramos, Gustavo Luis de Paiva Anciens, additional, Ribeiro, H.M., additional, Rodríguez-Nava, C. Odín, additional, Ruiz-Capillas, Claudia, additional, Saad, Susana Marta Isay, additional, Saha, Niharendu, additional, Saik, Amy Yi Hsan, additional, Saikia, Ruprekha, additional, Santana, Ádina L., additional, Savitha, S., additional, Schneider, Philip A., additional, Seth, Dibyakanta, additional, Sforza, Stefano, additional, Shabbir, Muhammad Asim, additional, Sieniawska, Elwira, additional, Silva, Mafalda Alexandra, additional, Šimat, Vida, additional, Simões, P., additional, Simões, S., additional, Soccol, Carlos Ricardo, additional, Sydney, Alessandra Cristine Novak, additional, Sydney, Eduardo Bittencourt, additional, Tahergorabi, Reza, additional, Tsiviki, Maria, additional, Tsouko, Erminta, additional, Velmourougane, K., additional, Vendramel, Simone Maria Ribas, additional, Waghmare, Ravindra D., additional, Waghmare, V.N., additional, Wichienchot, Santad, additional, and Woiciechowski, Adenise Lorenci, additional

Published
2021
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13. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Author

Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, Jr, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., and Vitobello, A.

Published
2019
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14. Global prevalence of autism and other pervasive developmental disorders.

Author

Kim, Young Shin, Elsabbagh, M, Divan, G, Koh, Y-J, Kim, YS, Kauchali, S, Marcín, C, Montiel-Nava, C, Patel, V, Paula, CS, and Wang, C

Abstract

We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. A secondary aim was to consider the possible impact of geographic, cultural/ethnic, and socioeconomic factors on prevalen

Published
2012

15. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Author

Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., and Ghoumid, Jamal

Published
2018
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16. From Quantity to Quality: Capturing Higher Spending Markets through a Segmentation of Travelers’ Expenditure

Author

Rubina Nava, C., Osti, L., Zoia, Maria, Zoia maria (ORCID:0000-0002-8169-781X), Rubina Nava, C., Osti, L., Zoia, Maria, and Zoia maria (ORCID:0000-0002-8169-781X)

Abstract

Many tourism destinations aim at expanding their market share of high spending visitors by shifting from quantity to quality. The COVID-19 pandemic has forced the introduction of social distancing requiring hotspots and mass destinations to reduce their capacity. This paper proposes a two-step approach for identifying top spending European countries over time, distinguishing between leisure and business travelers. The methodology employs the Country Product Dummy index with a hierarchical clusterization, enriched by a convergence analysis. This approach overcomes general shortcomings of descriptive statistics and cluster analyses directly applied to raw expenditure data. The outcomes of this analysis provide a detailed picture of the European travelers’ expenditure across time and geographical area. The identified top spending countries of leisure and business travelers can be targeted through ad-hoc marketing campaigns and specific packages for privileging quality tourism and planning economic recovery in the post-COVID-19 reopening phase, while shifting away from mass tourism.

Published
2023

17. Forecasting innovative start-ups through automatic variable selection and MIDAS regressions

Author

Nava, Consuelo Rubina, Riso, Luigi, Zoia, Maria, Nava C. R., Riso L. (ORCID:0000-0001-9858-7353), Zoia Maria (ORCID:0000-0002-8169-781X), Nava, Consuelo Rubina, Riso, Luigi, Zoia, Maria, Nava C. R., Riso L. (ORCID:0000-0001-9858-7353), and Zoia Maria (ORCID:0000-0002-8169-781X)

Abstract

The paper focuses on the role that both macroeconomic indicators and financial factors play as drivers for the birth and the evolution of the Italian innovative start-ups over time. The analysis makes use of a novel machine learning algorithm, working in high-dimensional graphical models, to select, among the multitude of potential determinants, the relevant explanatory variables for the number of innovative start-ups. Being the variables involved in the analysis sampled at different frequencies, mixed data sampling models are employed for estimation and forecasting purposes. The need to reduce the number of regressors of these models, for reasons related to their estimability, is met by resorting to principal component analysis of the potential determinants. An empirical application to the set of Italian innovative start-ups, either in their entirety or split according to some specific requirements, highlights the effectiveness of this approach. The analysis results provides useful information for the assessment of national innovation policies and for the evaluation of the capability of the innovative start-ups to persist and contribute at the recovery during the actual crisis still affected by the pandemic.

Published
2023

21. Multimessenger Characterization of Markarian 501 during Historically Low X-Ray and $γ$-Ray Activity

Author

Abe, Abe, H., Acciari, S., Agudo, V. A., Aniello, I., Ansoldi, T., Antonelli, S., Arbet-Engels, L. A., Arcaro, A., Artero, C., Asano, M., Baack, K., Babić, D., Baquero, A., de Almeida, A., Barres, Barrio, U., Batković, J. A., Baxter, I., Becerra González, J., Bednarek, J., Bernardini, W., Bernardos, E., Berti, M., Besenrieder, A., Bhattacharyya, J., Bigongiari, W., Biland, C., Blanch, A., Bonnoli, O., Bošnjak, G., Burelli, Ž., Busetto, I., Carosi, G., Carretero-Castrillo, R., Castro-Tirado, M., Ceribella, A. J., Chai, G., Chilingarian, Y., Cikota, A., Colombo, S., Contreras, E., Cortina, J. L., Covino, J., D’Amico, S., D’Elia, G., Da Vela, V., Dazzi, P., De Angelis, F., De Lotto, A., Del Popolo, B., Delfino, A., Delgado, M., Delgado Mendez, J., Depaoli, C., Di Pierro, D., Di Venere, F., Souto Espiñeira, L., Dominis Prester, E., Donini, D., Dorner, A., Doro, D., Elsaesser, M., Emery, D., Escudero, G., Fallah Ramazani, J., Fariña, V., Fattorini, L., Foffano, A., Font, L., Fruck, L., Fukami, C., Fukazawa, S., García López, Y., Garczarczyk, R. J., Gasparyan, M., Gaug, S., Giesbrecht Paiva, M., Giglietto, J. G., Giordano, N., Gliwny, F., Godinović, P., Grau, N., Green, R., Green, D., Hadasch, J. G., Hahn, D., Hassan, A., Heckmann, T., Herrera, L., Hrupec, J., Hütten, D., Imazawa, M., Inada, R., Iotov, T., Ishio, R., Jiménez Martínez, K., Jormanainen, I., Kerszberg, J., Kobayashi, D., Kubo, Y., Kushida, H., Lamastra, J., Lelas, A., Leone, D., Lindfors, F., Linhoff, E., Lombardi, L., Longo, S., López-Coto, F., López-Moya, R., López-Oramas, M., Loporchio, A., Lorini, S., Lyard, A., Machado de Oliveira Fraga, E., Majumdar, B., Makariev, P., Maneva, M., Mang, G., Manganaro, N., Mangano, M., Mannheim, S., Mariotti, K., Martínez, M., Mas-Aguilar, M., Mazin, A., Menchiari, D., Mender, S., Mićanović, S., Miceli, S., Miener, D., Miranda, T., Mirzoyan, J. M., Molina, R., Mondal, E., Moralejo, H. A., Morcuende, A., Moreno, D., Nakamori, V., Nanci, T., Nava, C., Neustroev, L., Nievas Rosillo, V., Nigro, M., Nilsson, C., Nishijima, K., Njoh Ekoume, K., Noda, T., Nozaki, K., Ohtani, S., Oka, Y., Okumura, T., Otero-Santos, A., Paiano, J., Palatiello, S., Paneque, M., Paoletti, D., Paredes, R., Pavletić, J. M., Persic, L., Pihet, M., Pirola, M., Podobnik, G., Moroni, F., Prada, Prandini, P. G., Principe, E., Priyadarshi, G., Rhode, C., Ribó, W., Rico, M., Righi, J., Rugliancich, C., Sahakyan, A., Saito, N., Sakurai, T., Satalecka, S., Saturni, K., Schleicher, F. G., Schmidt, B., Schmuckermaier, K., Schubert, F., Schweizer, J. L., Sitarek, T., Sliusar, J., Sobczynska, V., Spolon, D., Stamerra, A., Strišković, A., Strom, J., Strzys, D., Suda, M., Surić, Y., Tajima, T., Takahashi, H., Takeishi, M., Tavecchio, R., Temnikov, F., Terauchi, P., Terzić, K., Teshima, T., Tosti, M., Truzzi, L., Tutone, S., Ubach, A., van Scherpenberg, S., Acosta, J., Vazquez, Ventura, M., Verguilov, S., Viale, V., Vigorito, I., Vitale, C. F., Vovk, V., Walter, I., Will, R., Wunderlich, M., Yamamoto, C., Zarić, T., Cerruti, D., Acosta-Pulido, M., Apolonio, J. A., Bachev, G., Baloković, R., Benítez, M., Björklund, E., Bozhilov, I., Brown, V., Bugg, L. F., Carbonell, A., Carnerero, W., Carosati, M. I., Casadio, D., Chamani, C., Chen, W., Chigladze, W. P., Damljanovic, R. A., Epps, G., Erkenov, K., Feige, A., Finke, M., Fuentes, J., Gazeas, A., Giroletti, K., Grishina, M., Gupta, T. S., Heidemann, A. C., Gurwell, M. A., Hiriart, E., Hou, D., Hovatta, W. J., Ibryamov, T., Joner, S., Jorstad, M. D., Kania, S. G., Kiehlmann, J., Kimeridze, S., Kopatskaya, G. N., Kopp, E. N., Korte, M., Kotas, M., Koyama, B., Kramer, S., Kunkel, J. A., Kurtanidze, L., Kurtanidze, S. O., Lähteenmäki, O. M., López, A., Larionov, J. M., Larionova, V. M., Larionova, E. G., Leto, L. V., Lorey, C., Mújica, C., Madejski, R., Marchili, G. M., Marscher, N., Minev, A. P., Modaressi, M., Morozova, A., Mufakharov, D. A., Myserlis, T., Nikiforova, I., Nikolashvili, A. A., Ovcharov, M. G., Perri, E., Raiteri, M., Readhead, C. M., Reimer, A. C. S., Reinhart, A., Righini, D., Rosenlehner, S., Sadun, K., Savchenko, A. C., Scherbantin, S. S., Schneider, A., Schoch, L., Seifert, K., Semkov, D., Sigua, E., Singh, L. A., Sola, C., Sotnikova, P., Spencer, Y., Steineke, M., Stojanovic, R., Strigachev, M., Tornikoski, A., Traianou, M., Tramacere, E., Troitskaya, A., Troitskiy, Yu. V., Trump, I. S., Tsai, J. B., Valcheva, A., Vasilyev, A., Verrecchia, A. A., Villata, F., Vince, M., Vrontaki, O., Weaver, K., Zaharieva, Z. R., and Zottmann, E.

Subjects
ddc:520
Abstract

The astrophysical journal / Supplement series 266(2), 37 (2023). doi:10.3847/1538-4365/acc181, We study the broadband emission of Mrk 501 using multiwavelength observations from 2017 to 2020 performed with a multitude of instruments, involving, among others, MAGIC, Fermi's Large Area Telescope (LAT), NuSTAR, Swift, GASP-WEBT, and the Owens Valley Radio Observatory. Mrk 501 showed an extremely low broadband activity, which may help to unravel its baseline emission. Nonetheless, significant flux variations are detected at all wave bands, with the highest occurring at X-rays and very-high-energy (VHE) $γ$-rays. A significant correlation (>3σ) between X-rays and VHE $γ$-rays is measured, supporting leptonic scenarios to explain the variable parts of the emission, also during low activity. This is further supported when we extend our data from 2008 to 2020, and identify, for the first time, significant correlations between the Swift X-Ray Telescope and Fermi-LAT. We additionally find correlations between high-energy γ-rays and radio, with the radio lagging by more than 100 days, placing the γ-ray emission zone upstream of the radio-bright regions in the jet. Furthermore, Mrk 501 showed a historically low activity in X-rays and VHE $γ$-rays from mid-2017 to mid-2019 with a stable VHE flux (>0.2 TeV) of 5% the emission of the Crab Nebula. The broadband spectral energy distribution (SED) of this 2 $γ$r long low state, the potential baseline emission of Mrk 501, can be characterized with one-zone leptonic models, and with (lepto)-hadronic models fulfilling neutrino flux constraints from IceCube. We explore the time evolution of the SED toward the low state, revealing that the stable baseline emission may be ascribed to a standing shock, and the variable emission to an additional expanding or traveling shock., Published by Institute of Physics Publ., London

Published
2023
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23. Start-ups survival through a crisis. Combining machine learning with econometrics to measure innovation

Author

Guerzoni, M, Nava, C, Nuccio, M, Guerzoni, M., Nava, C., Nuccio, M., Guerzoni, M, Nava, C, Nuccio, M, Guerzoni, M., Nava, C., and Nuccio, M.

Abstract

This paper shows how data science can contribute to improving empirical research in economics by leveraging on large datasets and extracting information otherwise unsuitable for a traditional econometric approach. As a test-bed for our framework, machine learning algorithms allow to create a new holistic measure of innovation following a 2012 Italian Law aimed at boosting new high-tech firms. We adopt this measure to analyse the impact of innovativeness on a large population of Italian firms which entered the market at the beginning of the 2008 global crisis. The methodological contribution is organised in different steps. First, we train seven supervised learning algorithms to recognise innovative firms on 2013 firmographics data and select a combination of those models with the best prediction power. Second, we apply the latter on the 2008 dataset and predict which firms would have been labelled as innovative according to the definition of the 2012 law. Finally, we adopt this new indicator as the regressor in a survival model to explain firms' ability to remain in the market after 2008. The results suggest that innovative firms are more likely to survive than the rest of the sample, but the survival premium is likely to depend on location.

Published
2021

24. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Author

Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., and Mignot, C.

Published
2018
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25. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Author

Parthasarathy, S, Ruggiero, SM, Gelot, A, Soardi, FC, Ribeiro, BFR, Pires, DEV, Ascher, DB, Schmitt, A, Rambaud, C, Represa, A, Xie, HM, Lusk, L, Wilmarth, O, McDonnell, PP, Juarez, OA, Grace, AN, Buratti, J, Mignot, C, Gras, D, Nava, C, Pierce, SR, Keren, B, Kennedy, BC, Pena, SDJ, Helbig, I, Cuddapah, VA, Parthasarathy, S, Ruggiero, SM, Gelot, A, Soardi, FC, Ribeiro, BFR, Pires, DEV, Ascher, DB, Schmitt, A, Rambaud, C, Represa, A, Xie, HM, Lusk, L, Wilmarth, O, McDonnell, PP, Juarez, OA, Grace, AN, Buratti, J, Mignot, C, Gras, D, Nava, C, Pierce, SR, Keren, B, Kennedy, BC, Pena, SDJ, Helbig, I, and Cuddapah, VA

Abstract

Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied with a canonical transcript that includes the alternatively spliced exon 10b. However, after performing RNA sequencing in 39 pediatric brain samples, we find the primary transcript expressed in the brain includes the downstream exon 10a instead. Using this information, we evaluated genotype-phenotype correlations of variants affecting exon 10a and identified a cohort of eleven previously unreported individuals. Eight individuals harbor a recurrent de novo splice site variant, c.1197-8G>A (GenBank: NM_001288739.1), which affects exon 10a and leads to DEE consistent with the classical DNM1 phenotype. We find this splice site variant leads to disease through an unexpected dominant-negative mechanism. Functional testing reveals an in-frame upstream splice acceptor causing insertion of two amino acids predicted to impair oligomerization-dependent activity. This is supported by neuropathological samples showing accumulation of enlarged synaptic vesicles adherent to the plasma membrane consistent with impaired vesicular fission. Two additional individuals with missense variants affecting exon 10a, p.Arg399Trp and p.Gly401Asp, had a similar DEE phenotype. In contrast, one individual with a missense variant affecting exon 10b, p.Pro405Leu, which is less expressed in the brain, had a correspondingly less severe presentation. Thus, we implicate variants affecting exon 10a as causing the severe DEE typically associated with DNM1-related disorders. We highlight the importance of considering relevant isoforms for disease-causing variants as well as the possibility of splice site variants acting through a dominant-negative mechanism.

Published
2022

26. Bioengineering in the oral cavity: our experience

Author

Catalfamo L, Belli E, Nava C, Mici E, Calvo A, D'Alessandro B, and De Ponte FS

Subjects
Medicine (General), R5-920
Abstract

L Catalfamo,1 E Belli,2 C Nava,1 E Mici,1 A Calvo,1 B D'Alessandro,1 FS De Ponte1 1Unit of Maxillofacial Surgery, University of Messina, Azienda Ospedaliera Universitaria, Policlinico G Martino, Messina, Italy; 2Unit of Maxillofacial Surgery, University Rome Sapienza, Azienda Ospedaliera Sant Andrea, Rome, Italy Background: To date, there are no studies reported in the literature on the possible use of bovine collagen, oxidized regenerated cellulose, or synthetic hyaluronic acid medications in the oral cavity. The aim of this paper is to report the use of bovine collagen, oxidized regenerated cellulose, and synthetic hyaluronic acid medications to improve wound healing in the oral cavity by stimulating granulomatous tissue. Methods: From 2007 to 2011, 80 patients (median age 67 years) suffering from oral mucosal lesions participated in this double-blind study. The patients were divided into two groups, each consisting of 40 patients. One group received conventional medications, while the other group of patients were treated with the advanced medications. Results: Advanced medications allowed re-epithelialization of the wound margin in 2–20 days, whereas patients receiving conventional medication showed a median healing duration of 45 days. Conclusion: The results of this study demonstrate that treating oral mucosal wounds with advanced medication has an advantage with regard to wound healing time, allowing patients to have a rapid, functional, and esthetic recovery. Keywords: bioengineering, oral cavity, mucosal recovery

Published
2013

27. Toi-1235 b: A keystone super-earth for testing radius valley emergence models around early m dwarfs

Author

Cloutier, R, Rodriguez, JE, Irwin, J, Charbonneau, D, Stassun, KG, Mortier, A, Latham, DW, Isaacson, H, Howard, AW, Udry, S, Wilson, TG, Watson, CA, Pinamonti, M, Lienhard, F, Giacobbe, P, Guerra, P, Collins, KA, Beiryla, A, Esquerdo, GA, Matthews, E, Matson, RA, Howell, SB, Furlan, E, Crossfield, IJM, Winters, JG, Nava, C, Ment, K, Lopez, ED, Ricker, G, Vanderspek, R, Seager, S, Jenkins, JM, Ting, EB, Tenenbaum, P, Sozzetti, A, Sha, L, Ségransan, D, Schlieder, JE, Sasselov, D, Roy, A, Robertson, P, Rice, K, Poretti, E, Piotto, G, Phillips, D, Pepper, J, Pepe, F, Molinari, E, Mocnik, T, Micela, G, Mayor, M, Martinez Fiorenzano, AF, Mallia, F, Lubin, J, Lovis, C, López-Morales, M, Kosiarek, MR, Kielkopf, JF, Kane, Jensen, ELN, Isopi, G, Huber, D, Hill, ML, Harutyunyan, A, Gonzales, E, Giacalone, S, Ghedina, A, Ercolino, A, Dumusque, X, Dressing, CD, Damasso, M, Dalba, PA, Cosentino, R, Conti, DM, Colón, KD, Collins, KI, Cameron, AC, Ciardi, D, Christiansen, J, Chontos, A, Cecconi, M, Caldwell, DA, Burke, C, Buchhave, L, Beichman, C, Behmard, A, Beard, C, Akana Murphy, JM, Cloutier, R [0000-0001-5383-9393], Rodriguez, JE [0000-0001-8812-0565], Charbonneau, D [0000-0002-9003-484X], Stassun, KG [0000-0002-3481-9052], Mortier, A [0000-0001-7254-4363], Latham, DW [0000-0001-9911-7388], Isaacson, H [0000-0002-0531-1073], Howard, AW [0000-0001-8638-0320], Udry, S [0000-0001-7576-6236], Collins, KA [0000-0001-6588-9574], Beiryla, A [0000-0001-6637-5401], Esquerdo, GA [0000-0002-9789-5474], Matthews, E [0000-0003-0593-1560], Matson, RA [0000-0001-7233-7508], Howell, SB [0000-0002-2532-2853], Winters, JG [0000-0001-6031-9513], Nava, C [0000-0001-8838-3883], Ment, K [0000-0001-5847-9147], Ricker, G [0000-0003-2058-6662], Vanderspek, R [0000-0001-6763-6562], Seager, S [0000-0002-6892-6948], Jenkins, JM [0000-0002-4715-9460], Ting, EB [0000-0002-8219-9505], Tenenbaum, P [0000-0002-1949-4720], Sozzetti, A [0000-0002-7504-365X], Sha, L [0000-0001-5401-8079], Ségransan, D [0000-0003-2355-8034], Schlieder, JE [0000-0001-5347-7062], Sasselov, D [0000-0001-7014-1771], Roy, A [0000-0001-8127-5775], Robertson, P [0000-0003-0149-9678], Poretti, E [0000-0003-1200-0473], Piotto, G [0000-0002-9937-6387], Pepper, J [0000-0002-3827-8417], Molinari, E [0000-0002-1742-7735], Mocnik, T [0000-0003-4603-556X], Micela, G [0000-0002-9900-4751], Lubin, J [0000-0001-8342-7736], López-Morales, M [0000-0003-3204-8183], Kielkopf, JF [0000-0003-0497-2651], Kane, SR [0000-0002-7084-0529], Jensen, ELN [0000-0002-4625-7333], Huber, D [0000-0001-8832-4488], Hill, ML [0000-0002-0139-4756], Giacalone, S [0000-0002-8965-3969], Ghedina, A [0000-0003-4702-5152], Dumusque, X [0000-0002-9332-2011], Dressing, CD [0000-0001-8189-0233], Dalba, PA [0000-0002-4297-5506], Cosentino, R [0000-0003-1784-1431], Conti, DM [0000-0003-2239-0567], Colón, KD [0000-0001-8020-7121], Collins, KI [0000-0003-2781-3207], Ciardi, D [0000-0002-5741-3047], Christiansen, J [0000-0002-8035-4778], Chontos, A [0000-0003-1125-2564], Caldwell, DA [0000-0003-1963-9616], Burke, C [0000-0002-7754-9486], Buchhave, L [0000-0003-1605-5666], Behmard, A [0000-0003-0012-9093], Beard, C [0000-0001-7708-2364], Akana Murphy, JM [0000-0001-8898-8284], and Apollo - University of Cambridge Repository

Subjects
Radial velocity, Exoplanet formation, Transit photometry, M dwarf stars, Exoplanet structure
Abstract

Small planets on close-in orbits tend to exhibit envelope mass fractions of either effectively zero or up to a few percent depending on their size and orbital period. Models of thermally-driven atmospheric mass loss and of terrestrial planet formation in a gas-poor environment make distinct predictions regarding the location of this rocky/non-rocky transition in period-radius space. Here we present the confirmation of TOI-1235 b ($P=3.44$ days, $r_p=1.738^{+0.087}_{-0.076}$ R$_{\oplus}$), a planet whose size and period are intermediate between the competing model predictions, thus making the system an important test case for emergence models of the rocky/non-rocky transition around early M dwarfs ($R_s=0.630\pm 0.015$ R$_{\odot}$, $M_s=0.640\pm 0.016$ M$_{\odot}$). We confirm the TESS planet discovery using reconnaissance spectroscopy, ground-based photometry, high-resolution imaging, and a set of 38 precise radial-velocities from HARPS-N and HIRES. We measure a planet mass of $6.91^{+0.75}_{-0.85}$ M$_{\oplus}$ which implies an iron core mass fraction of $20^{+15}_{-12}$% in the absence of a gaseous envelope. The bulk composition of TOI-1235 b is therefore consistent with being Earth-like and we constrain a H/He envelope mass fraction to be $

Published
2020

29. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Author

Balasubramanian, M., Dingemans, A.J.M., Albaba, S., Richardson, R., Yates, T.M., Cox, H., Douzgou, S., Armstrong, R., Sansbury, F.H., Burke, K.B., Fry, A.E., Ragge, N., Sharif, S., Foster, A., Sandre-Giovannoli, A. De, Elouej, S., Vasudevan, P., Mansour, S., Wilson, K., Stewart, H., Heide, S. van der, Nava, C., Keren, B., Demirdas, S., Brooks, A.S., Vincent, M., Isidor, B., Küry, S., Schouten, M.I., Leenders, E.K.S.M., Chung, W.K., Haeringen, A.V., Scheffner, T., Debray, F.G., White, S.M., Palafoll, M.I.V., Pfundt, R.P., Newbury-Ecob, R., Kleefstra, T., Balasubramanian, M., Dingemans, A.J.M., Albaba, S., Richardson, R., Yates, T.M., Cox, H., Douzgou, S., Armstrong, R., Sansbury, F.H., Burke, K.B., Fry, A.E., Ragge, N., Sharif, S., Foster, A., Sandre-Giovannoli, A. De, Elouej, S., Vasudevan, P., Mansour, S., Wilson, K., Stewart, H., Heide, S. van der, Nava, C., Keren, B., Demirdas, S., Brooks, A.S., Vincent, M., Isidor, B., Küry, S., Schouten, M.I., Leenders, E.K.S.M., Chung, W.K., Haeringen, A.V., Scheffner, T., Debray, F.G., White, S.M., Palafoll, M.I.V., Pfundt, R.P., Newbury-Ecob, R., and Kleefstra, T.

Abstract

Contains fulltext : 245024.pdf (Publisher’s version ) (Open Access), Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.

Published
2021

30. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author

Mannucci, I., Dang, N.D.P., Huber, H, Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, Laurence, Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Guyader, G. Le, Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J.H.M., Shieh, P.B., Slavotinek, A., Smithson, S., Stegmann, A.P.A., Tomczak, K., Tveten, K., Wang, J, Whitlock, J.H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N.C., Kreienkamp, H.J., Lessel, D., Mannucci, I., Dang, N.D.P., Huber, H, Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, Laurence, Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Guyader, G. Le, Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J.H.M., Shieh, P.B., Slavotinek, A., Smithson, S., Stegmann, A.P.A., Tomczak, K., Tveten, K., Wang, J, Whitlock, J.H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N.C., Kreienkamp, H.J., and Lessel, D.

Abstract

Contains fulltext : 245060.pdf (Publisher’s version ) (Open Access), BACKGROUND: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. METHODS: Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays. RESULTS: We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes. DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of dhx30-deficient

Published
2021

31. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Author

Balasubramanian, M. (Meena), Dingemans, A.J.M. (Alexander J. M.), Albaba, S. (Shadi), Richardson, R. (Ruth), Yates, T.M. (Thabo M.), Cox, H. (H.), Douzgou, S. (Sofia), Armstrong, R. (Ruth), Sansbury, F.H. (Francis H.), Burke, K.B. (Katherine B.), Fry, A.E. (Andrew E.), Ragge, N. (Nicola), Sharif, S. (Saba), Foster, A. (Alison), Sandre-Giovannoli, A. (Annachiara) de, Elouej, S. (Sahar), Vasudevan, P. (Pradeep), Mansour, S. (Sahar), Wilson, K. (Kate), Stewart, H. (Helen), Heide, S. (Solveig), Nava, C. (Caroline), Keren, B. (Boris), Demirdas, S. (Serwet), Brooks, A.S. (Alice S.), Vincent, M. (Marie), Isidor, B. (Bertrand), Küry, S. (Sebastien), Schouten, M. (Meyke), Leenders, E. (Erika), Chung, W. (Wendy), Haeringen, A. (Arie van), Scheffner, T. (Thomas), Debray, F.-G. (Francois-Guillaume), White, S.M. (Susan M.), Palafoll, M.I.V. (Maria Irene Valenzuela), Pfundt, R. (Rolph), Newbury-Ecob, R. (Ruth), Kleefstra, T. (Tjitske), Balasubramanian, M. (Meena), Dingemans, A.J.M. (Alexander J. M.), Albaba, S. (Shadi), Richardson, R. (Ruth), Yates, T.M. (Thabo M.), Cox, H. (H.), Douzgou, S. (Sofia), Armstrong, R. (Ruth), Sansbury, F.H. (Francis H.), Burke, K.B. (Katherine B.), Fry, A.E. (Andrew E.), Ragge, N. (Nicola), Sharif, S. (Saba), Foster, A. (Alison), Sandre-Giovannoli, A. (Annachiara) de, Elouej, S. (Sahar), Vasudevan, P. (Pradeep), Mansour, S. (Sahar), Wilson, K. (Kate), Stewart, H. (Helen), Heide, S. (Solveig), Nava, C. (Caroline), Keren, B. (Boris), Demirdas, S. (Serwet), Brooks, A.S. (Alice S.), Vincent, M. (Marie), Isidor, B. (Bertrand), Küry, S. (Sebastien), Schouten, M. (Meyke), Leenders, E. (Erika), Chung, W. (Wendy), Haeringen, A. (Arie van), Scheffner, T. (Thomas), Debray, F.-G. (Francois-Guillaume), White, S.M. (Susan M.), Palafoll, M.I.V. (Maria Irene Valenzuela), Pfundt, R. (Rolph), Newbury-Ecob, R. (Ruth), and Kleefstra, T. (Tjitske)

Abstract

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

Published
2021
Full Text
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32. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Author

Ernst, ME, Baugh, EH, Thomas, A, Bier, L, Lippa, N, Stong, N, Mulhern, MS, Kushary, S, Akman, CI, Heinzen, EL, Yeh, R, Bi, W, Hanchard, NA, Burrage, LC, Leduc, MS, Chong, JSC, Bend, R, Lyons, MJ, Lee, JA, Suwannarat, P, Brilstra, E, Simon, M, Koopmans, M, van Binsbergen, E, Groepper, D, Fleischer, J, Nava, C, Keren, B, Mignot, C, Mathieu, S, Mancini, GMS, Madan-Khetarpal, S, Infante, EM, Bluvstein, J, Seeley, A, Bachman, K, Klee, EW, Schultz-Rogers, LE, Hasadsri, L, Barnett, S, Ellingson, MS, Ferber, MJ, Narayanan, V, Ramsey, K, Rauch, A, Joset, P, Steindl, K, Sheehan, T, Poduri, A, Vasquez, A, Ruivenkamp, C, White, SM, Pais, L, Monaghan, KG, Goldstein, DB, Sands, TT, Aggarwal, V, Ernst, ME, Baugh, EH, Thomas, A, Bier, L, Lippa, N, Stong, N, Mulhern, MS, Kushary, S, Akman, CI, Heinzen, EL, Yeh, R, Bi, W, Hanchard, NA, Burrage, LC, Leduc, MS, Chong, JSC, Bend, R, Lyons, MJ, Lee, JA, Suwannarat, P, Brilstra, E, Simon, M, Koopmans, M, van Binsbergen, E, Groepper, D, Fleischer, J, Nava, C, Keren, B, Mignot, C, Mathieu, S, Mancini, GMS, Madan-Khetarpal, S, Infante, EM, Bluvstein, J, Seeley, A, Bachman, K, Klee, EW, Schultz-Rogers, LE, Hasadsri, L, Barnett, S, Ellingson, MS, Ferber, MJ, Narayanan, V, Ramsey, K, Rauch, A, Joset, P, Steindl, K, Sheehan, T, Poduri, A, Vasquez, A, Ruivenkamp, C, White, SM, Pais, L, Monaghan, KG, Goldstein, DB, Sands, TT, and Aggarwal, V

Abstract

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.

Published
2021

33. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Author

Balasubramanian, M, Dingemans, AJM, Albaba, S, Richardson, R, Yates, TM, Cox, H, Douzgou, S, Armstrong, R, Sansbury, FH, Burke, KB, Fry, AE, Ragge, N, Sharif, S, Foster, A, De Sandre-Giovannoli, A, Elouej, S, Vasudevan, P, Mansour, S, Wilson, K, Stewart, H, Heide, S, Nava, C, Keren, B, Demirdas, S, Brooks, AS, Vincent, M, Isidor, B, Kury, S, Schouten, M, Leenders, E, Chung, WK, Haeringen, AV, Scheffner, T, Debray, F-G, White, SM, Palafoll, MIV, Pfundt, R, Newbury-Ecob, R, Kleefstra, T, Balasubramanian, M, Dingemans, AJM, Albaba, S, Richardson, R, Yates, TM, Cox, H, Douzgou, S, Armstrong, R, Sansbury, FH, Burke, KB, Fry, AE, Ragge, N, Sharif, S, Foster, A, De Sandre-Giovannoli, A, Elouej, S, Vasudevan, P, Mansour, S, Wilson, K, Stewart, H, Heide, S, Nava, C, Keren, B, Demirdas, S, Brooks, AS, Vincent, M, Isidor, B, Kury, S, Schouten, M, Leenders, E, Chung, WK, Haeringen, AV, Scheffner, T, Debray, F-G, White, SM, Palafoll, MIV, Pfundt, R, Newbury-Ecob, R, and Kleefstra, T

Abstract

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.

Published
2021

34. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Author

Balasubramanian M, Dingemans AJM, lbaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, van Haeringen A, Scheffner T, Debray F, White SM, Valenzuela Palafoll MI, Pfundt R, Newbury-Ecob R, Kleefstra T, Balasubramanian M, Dingemans AJM, lbaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, van Haeringen A, Scheffner T, Debray F, White SM, Valenzuela Palafoll MI, Pfundt R, Newbury-Ecob R, and Kleefstra T

Abstract

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, pediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ eight years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.

Published
2021

36. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C., Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

Subjects
Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders
Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements., Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

Published
2019

37. Mutations in the KIF21B Kinesin Gene Cause Neurodevelopmental Disorders Through Imbalanced Canonical Motor Activity

Author

Asselin, L., Alvarez, J., Heide, S. van der, Bonnet, C.S., Tilly, P., Vitet, H., Weber, C., Bacino, C.A., Baranaño, K., Chassevent, A., Dameron, A., Faivre, L., Hanchard, N.A., Mahida, S., K., M., Mignot, C., Nava, C., Rastetter, A., Streff, H., Thauvin-Robinet, C., Weiss, M.M., Zapata, G., Zwijnenburg, P.J., F., S., Depienne, C., Golzio, C., Héron, D., Godin, J.D., Asselin, L., Alvarez, J., Heide, S. van der, Bonnet, C.S., Tilly, P., Vitet, H., Weber, C., Bacino, C.A., Baranaño, K., Chassevent, A., Dameron, A., Faivre, L., Hanchard, N.A., Mahida, S., K., M., Mignot, C., Nava, C., Rastetter, A., Streff, H., Thauvin-Robinet, C., Weiss, M.M., Zapata, G., Zwijnenburg, P.J., F., S., Depienne, C., Golzio, C., Héron, D., and Godin, J.D.

Abstract

Contains fulltext : 220453.pdf (publisher's version ) (Open Access)

Published
2020

38. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Author

Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), Bhoj, E.J. (Elizabeth J.), Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), and Bhoj, E.J. (Elizabeth J.)

Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

Published
2020
Full Text
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39. Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies

Author

Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R., Reutter, H., Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R., and Reutter, H.

Published
2020

40. Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

Author

Spencer-Smith, M, Knight, JL, Lacaze, E, Depienne, C, Lockhart, PJ, Richards, LJ, Heron, D, Leventer, RJ, Robinson, GA, Ceslis, A, Gibson, E, Giraudat, K, McIlroy, A, Paul, LK, Siffredi, V, Bahlo, M, Barker, M, Blondiaux, E, Edwards, TJ, Garel, C, Heide, S, Keren, B, Mandelstam, SA, Marsh, APL, McGillivray, G, Mignot, C, Moutard, M-L, Nava, C, Pope, K, Rastetter, A, Stephenson, SEM, Valence, S, de Villemeur, TB, Wood, A, Anderson, V, Sherr, EH, Spencer-Smith, M, Knight, JL, Lacaze, E, Depienne, C, Lockhart, PJ, Richards, LJ, Heron, D, Leventer, RJ, Robinson, GA, Ceslis, A, Gibson, E, Giraudat, K, McIlroy, A, Paul, LK, Siffredi, V, Bahlo, M, Barker, M, Blondiaux, E, Edwards, TJ, Garel, C, Heide, S, Keren, B, Mandelstam, SA, Marsh, APL, McGillivray, G, Mignot, C, Moutard, M-L, Nava, C, Pope, K, Rastetter, A, Stephenson, SEM, Valence, S, de Villemeur, TB, Wood, A, Anderson, V, and Sherr, EH

Abstract

Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and a DCC pathogenic variant alone is not sufficient to explain the disability. WHAT THIS PAPER ADDS: Neuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum. A DCC pathogenic variant in isolation is associated with the best prognosis.

Published
2020

41. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Author

Carvill, GL, Helbig, KL, Myers, CT, Scala, M, Huether, R, Lewis, S, Kruer, TN, Guida, BS, Bakhtiari, S, Sebe, J, Tang, S, Stickney, H, Oktay, SU, Bhandiwad, AA, Ramsey, K, Narayanan, V, Feyma, T, Rohena, LO, Accogli, A, Severino, M, Hollingsworth, G, Gill, D, Depienne, C, Nava, C, Sadleir, LG, Caruso, PA, Lin, AE, Jansen, FE, Koeleman, B, Brilstra, E, Willemsen, MH, Kleefstra, T, Sa, J, Mathieu, M-L, Perrin, L, Lesca, G, Striano, P, Casari, G, Scheffer, IE, Raible, D, Sattlegger, E, Capra, V, Padilla-Lopez, S, Mefford, HC, Kruer, MC, Carvill, GL, Helbig, KL, Myers, CT, Scala, M, Huether, R, Lewis, S, Kruer, TN, Guida, BS, Bakhtiari, S, Sebe, J, Tang, S, Stickney, H, Oktay, SU, Bhandiwad, AA, Ramsey, K, Narayanan, V, Feyma, T, Rohena, LO, Accogli, A, Severino, M, Hollingsworth, G, Gill, D, Depienne, C, Nava, C, Sadleir, LG, Caruso, PA, Lin, AE, Jansen, FE, Koeleman, B, Brilstra, E, Willemsen, MH, Kleefstra, T, Sa, J, Mathieu, M-L, Perrin, L, Lesca, G, Striano, P, Casari, G, Scheffer, IE, Raible, D, Sattlegger, E, Capra, V, Padilla-Lopez, S, Mefford, HC, and Kruer, MC

Abstract

Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis. Our findings allow us to confirm multiple variants as pathogenic and broaden the phenotypic spectrum to include dystonia/choreoathetosis, and in some cases a degenerative course with cerebral and cerebellar atrophy. Pathogenic variants appear to act via a haploinsufficiency mechanism, disrupting both the protein synthesis and integrated stress response functions of EEF1A2. Our studies provide evidence that EEF1A2 is highly intolerant to variation and that de novo pathogenic variants lead to an epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features. Developmental features may be driven by impaired synaptic protein synthesis during early brain development while progressive symptoms may be linked to an impaired ability to handle cytotoxic stressors.

Published
2020

42. Electrocatalytic urea mineralization in aqueous alkaline medium using NiIIcyclam-modified nanoparticulate TiO2 anodes and its relationship with the simultaneous electrogeneration of H2 on Pt counterelectrodes

Author

Murcio Hernández, S., Rueda Solorio, A.V., Banda Alemán, J.A., González Nava, C., Rodríguez, F.J., Bustos, E., Espejel Ayala, F., Rodríguez, A., Sepúlveda, S., Manríquez, J., Murcio Hernández, S., Rueda Solorio, A.V., Banda Alemán, J.A., González Nava, C., Rodríguez, F.J., Bustos, E., Espejel Ayala, F., Rodríguez, A., Sepúlveda, S., and Manríquez, J.

Abstract

NiIIcyclam-modified nanoparticulate TiO2-coated ITO electrodes (ITO/TiO2//NiIIcyclam) were prepared by electropolymerization of NiIIcyclam monomers to TiO2-coated ITO electrodes (ITO/TiO2) to improve electrocatalytic urea CO(NH2)2 oxidation in alkaline aqueous solutions. A high value adding secondary effect was the collection of electrons at Pt cathodes, to simultaneously generate H2 from water reduction. NiIIcyclam-modified ITO electrodes (ITO//NiIIcyclam) were also prepared by electropolymerization of NiIIcyclam monomers to bare ITO electrodes (ITO) for comparison purposes. In the presence of the TiO2 nanoparticles, the urea mineralization on NiIIcyclam coatings was doubled (23.95% – organic carbon removal at 120 min of electrolysis) compared to those without TiO2 nanoparticles (13.02% – organic carbon removal at 120 min of electrolysis). In agreement, the faradaic efficiency for H2 generation at the Pt cathode, electrically connected to an anode having TiO2 nanoparticles (0.99 at 120 min of electrolysis), was also twice as effective than that observed when the same Pt cathode was electrically connected to an anode without TiO2 nanoparticles (0.46 at 120 min of electrolysis). The experimental results indicated that the poisoning of NiII centers (which is caused by an excessive production of CO intermediates during the urea oxidation on both NiIIcyclam-modified anodes) was strongly inhibited in the presence of the nanoparticulate TiO2|NiIIcyclam junction. A final comparison between our results and those reported in selected publications revealed that the NiIIcyclam-modified nanoparticulate TiO2-coated ITO anodes here developed, constitutes a promising electrocatalytic system for performing direct urea mineralization at a relative short electrolysis time. Furthermore, the combination of the following phenomena: (a) effective charge separation on the semiconducting ITO|nanoparticulate TiO2 junctions, (b) remarkable capabilities of the nanoporous TiO2 films for tuning

Published
2020

43. Developmental and symptom profiles in early-onset psychosis

Author

Ferrafiat, Vladimir, Raffin, Marie, Freri, Elena, Granata, Tiziana, Nardocci, Nardo, Zibordi, Federica, Bodeau, Nicolas, Benarous, Xavier, Olliac, Bertrand, Riquin, Elise, Viaux, Sylvie, Haroche, Julien, Amoura, Zahir, Gérardin, Priscille, Consoli, Angèle, Zahoui, Mohamed, Zhou, Bo, Bilan, Frederic, Zhang, Xianglong, Gilbert-Dussardier, Brigitte, Viaux-Savelon, Sylvie, Pattni, Reenal, Ho, Steve, Urban, Alexander, Delion, Pierre, Labreuche, Julien, Deplanque, Dominique, Duhamel, Alain, Lallié, Céline, Ravary, Maud, Goëb, Jean-Louis, Medjkane, François, Gauthier, Soizic, Anzalone, Salvatore, Zaoui, Mohamed, Chetouani, Mohamed, Villa, François, Berthoz, Alain, Angeard, N., Huerta, E., Gargiulo, M., Servais, L., Eymard, B., Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.-L., Guët, A., Périsse, D., Demurger, F., Quelin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C., Giannitelli, Marianna, Levinson, Douglas, Cohen, David, Xavier, Jean, Laurent-Levinson, Claudine, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut des Systèmes Intelligents et de Robotique (ISIR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Fédération hospitalo-universitaire de psychiatrie de l'enfant et de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Stanford University, Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Laboratoire de Neurosciences Fonctionnelles et Pathologies (LNFP), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Evaluation des technologies de santé et des pratiques médicales - ULR 2694 (METRICS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Perception, Interaction, Robotique sociales (PIROS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Physiologie de la Perception et de l'Action (LPPA), Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD [France-Ouest]), Service: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), Environnements et Paléoenvironnements OCéaniques (EPOC), Observatoire aquitain des sciences de l'univers (OASU), Université Sciences et Technologies - Bordeaux 1 (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, National Alliance for Research on Schizophrenia and Depression, Centre de Référence des Maladies Rares à Expression Psychiatrique, Department of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Stanford Schizophrenia Genetics Research Fund, Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Université Sciences et Technologies - Bordeaux 1-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Sciences et Technologies - Bordeaux 1-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-École pratique des hautes études (EPHE), Service de génétique clinique, and hôpital Sud

Subjects
Adult, Psychosis, Adolescent, Early onset psychosis, 03 medical and health sciences, [SCCO]Cognitive science, 0302 clinical medicine, Cluster analysis, Humans, Medicine, Medical diagnosis, Child, Children, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Psychopathology, business.industry, Neuropsychology, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Symptom profiles, Psychotic Disorders, Schizophrenia, Cohort, Factor analysis, business, 030217 neurology & neurosurgery, Clinical psychology
Abstract

Psychotic disorders in children are more heterogeneous than is captured by categorical diagnoses. In a new cohort of children and adolescents, we evaluated the relationships among age at onset (AAO), clinical symptoms and developmental impairments. Patients with schizophrenia and other "spectrum" psychotic diagnoses (N = 88; AAO 6-17, mean 12.6) were evaluated with diagnostic interviews, a new clinical scale (Lifetime Dimensions of Psychosis Scale-Child and Adolescent), and neuropsychological and medical evaluations. Key findings were replicated in an adult cohort of 2420 cases, including 127 with retrospective AAO13. Factor and cluster analyses were carried out to identify clinical profiles. Five clinical factors were identified in each cohort: Positive, Bizarre Positive, Negative/Formal Thought Disorder, Depression and Mania. Earlier AAO predicted severity of bizarre positive symptoms in children and of bizarre and other symptoms in adults. Four clinical clusters in the child cohort were characterized by: more severe bizarre positive symptoms (N = 31); negative symptoms (N = 15); premorbid autism spectrum features and developmental delay (N = 12); and depressive symptoms with heterogeneous diagnoses and mild positive/negative symptoms (N = 25). Previous factor-analytic studies of childhood psychosis did not specifically consider bizarre positive symptoms. Here, bizarre positive symptoms emerged as clinical markers of severe, childhood-onset psychosis similar to adult schizophrenia. The four clusters are clinically meaningful and useful for treatment planning and potentially for biological research. Childhood-onset cases are rare and thus difficult to study, but additional, larger cohorts may be useful in dissecting the biological and developmental heterogeneity of psychotic disorders.

Published
2019

45. Carbon content control during the production process of high carbon brake discs

Author

Muruzabal, U, Nava, C, Ruiz, C, Asenjo, I, Larranaga, P, and Suarez, R

Subjects
Rotors -- Chemical properties, Carbon -- Properties, Mathematical models -- Design and construction, Business, Metals, metalworking and machinery industries
Abstract

A study was conducted to examine the physical properties of high carbon brake discs, which are strongly affected by the content of this element. There is often a decrease in the carbon percentage during a normal manufacturing process. A mathematical model has also been developed to identify the carbon percentage in each process step.

Published
2010

46. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., and FAME Consortium

Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.

Published
2019

47. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

Author

Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., and Baulac, S.

Published
2019

48. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

Author

Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. Moufawad, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. Fransen, Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. Tran, Thevenon, J., Faivre, L., Thomas, G., and Thauvin-Robinet, C.

Published
2019

49. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author

Salpietro, V. Dixon, C.L. Guo, H. Bello, O.D. Vandrovcova, J. Efthymiou, S. Maroofian, R. Heimer, G. Burglen, L. Valence, S. Torti, E. Hacke, M. Rankin, J. Tariq, H. Colin, E. Procaccio, V. Striano, P. Mankad, K. Lieb, A. Chen, S. Pisani, L. Bettencourt, C. Männikkö, R. Manole, A. Brusco, A. Grosso, E. Ferrero, G.B. Armstrong-Moron, J. Gueden, S. Bar-Yosef, O. Tzadok, M. Monaghan, K.G. Santiago-Sim, T. Person, R.E. Cho, M.T. Willaert, R. Yoo, Y. Chae, J.-H. Quan, Y. Wu, H. Wang, T. Bernier, R.A. Xia, K. Blesson, A. Jain, M. Motazacker, M.M. Jaeger, B. Schneider, A.L. Boysen, K. Muir, A.M. Myers, C.T. Gavrilova, R.H. Gunderson, L. Schultz-Rogers, L. Klee, E.W. Dyment, D. Osmond, M. Parellada, M. Llorente, C. Gonzalez-Peñas, J. Carracedo, A. Van Haeringen, A. Ruivenkamp, C. Nava, C. Heron, D. Nardello, R. Iacomino, M. Minetti, C. Skabar, A. Fabretto, A. Hanna, M.G. Bugiardini, E. Hostettler, I. O’Callaghan, B. Khan, A. Cortese, A. O’Connor, E. Yau, W.Y. Bourinaris, T. Kaiyrzhanov, R. Chelban, V. Madej, M. Diana, M.C. Vari, M.S. Pedemonte, M. Bruno, C. Balagura, G. Scala, M. Fiorillo, C. Nobili, L. Malintan, N.T. Zanetti, M.N. Krishnakumar, S.S. Lignani, G. Jepson, J.E.C. Broda, P. Baldassari, S. Rossi, P. Fruscione, F. Madia, F. Traverso, M. De-Marco, P. Pérez-Dueñas, B. Munell, F. Kriouile, Y. El-Khorassani, M. Karashova, B. Avdjieva, D. Kathom, H. Tincheva, R. Van-Maldergem, L. Nachbauer, W. Boesch, S. Gagliano, A. Amadori, E. Goraya, J.S. Sultan, T. Kirmani, S. Ibrahim, S. Jan, F. Mine, J. Banu, S. Veggiotti, P. Zuccotti, G.V. Ferrari, M.D. Van Den Maagdenberg, A.M.J. Verrotti, A. Marseglia, G.L. Savasta, S. Soler, M.A. Scuderi, C. Borgione, E. Chimenz, R. Gitto, E. Dipasquale, V. Sallemi, A. Fusco, M. Cuppari, C. Cutrupi, M.C. Ruggieri, M. Cama, A. Capra, V. Mencacci, N.E. Boles, R. Gupta, N. Kabra, M. Papacostas, S. Zamba-Papanicolaou, E. Dardiotis, E. Maqbool, S. Rana, N. Atawneh, O. Lim, S.Y. Shaikh, F. Koutsis, G. Breza, M. Coviello, D.A. Dauvilliers, Y.A. AlKhawaja, I. AlKhawaja, M. Al-Mutairi, F. Stojkovic, T. Ferrucci, V. Zollo, M. Alkuraya, F.S. Kinali, M. Sherifa, H. Benrhouma, H. Turki, I.B.Y. Tazir, M. Obeid, M. Bakhtadze, S. Saadi, N.W. Zaki, M.S. Triki, C.C. Benfenati, F. Gustincich, S. Kara, M. Belcastro, V. Specchio, N. Capovilla, G. Karimiani, E.G. Salih, A.M. Okubadejo, N.U. Ojo, O.O. Oshinaike, O.O. Oguntunde, O. Wahab, K. Bello, A.H. Abubakar, S. Obiabo, Y. Nwazor, E. Ekenze, O. Williams, U. Iyagba, A. Taiwo, L. Komolafe, M. Senkevich, K. Shashkin, C. Zharkynbekova, N. Koneyev, K. Manizha, G. Isrofilov, M. Guliyeva, U. Salayev, K. Khachatryan, S. Rossi, S. Silvestri, G. Haridy, N. Ramenghi, L.A. Xiromerisiou, G. David, E. Aguennouz, M. Fidani, L. Spanaki, C. Tucci, A. Raspall-Chaure, M. Chez, M. Tsai, A. Fassi, E. Shinawi, M. Constantino, J.N. De Zorzi, R. Fortuna, S. Kok, F. Keren, B. Bonneau, D. Choi, M. Benzeev, B. Zara, F. Mefford, H.C. Scheffer, I.E. Clayton-Smith, J. Macaya, A. Rothman, J.E. Eichler, E.E. Kullmann, D.M. Houlden, H. SYNAPS Study Group

Abstract

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission. © 2019, The Author(s).

Published
2019

50. The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature

Author

Piard, J., Hawkes, L., Milh, M., Villard, Laurent, Borgatti, R., Fradin, M., Capri, Y., Heron, D., Nougues, M., Nava, C., Arsene, O. Tarta, Shears, D., Sogawa, Y., Johnson, D., Firth, H., Vasudevan, P., Jones, G., Nguyen-Morel, M., Busa, T., Roubertie, A., Born, M., Koenig, M., Brischoux-Boucher, E., Mignot, C., Kini, U., Philippe, C., Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics
Abstract

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018; International audience

Published
2019

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