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https://www.readbyqxmd.com/read/29351602/the-integrity-and-organization-of-the-human-aipl1-functional-domains-is-critical-for-its-role-as-a-hsp90-dependent-co-chaperone-for-rod-pde6
#1
Almudena Sacristan-Reviriego, James Bellingham, Chrisostomos Prodromou, Annika N Boehm, Annette Aichem, Neruban Kumaran, James Bainbridge, Michel Michaelides, Jacqueline van der Spuy
No abstract text is available yet for this article.
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29332120/severe-loss-of-tritan-color-discrimination-in-rpe65-associated-leber-congenital-amaurosis
#2
Neruban Kumaran, Caterina Ripamonti, Angelos Kalitzeos, Gary S Rubin, James W B Bainbridge, Michel Michaelides
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects color discrimination. Methods: Seven adults (aged 16-21) with RPE65-LCA underwent monocular color discrimination assessment using the Trivector and Ellipse versions of three computerized tests: Cambridge Colour Test (CCT), low vision version of the Cambridge Colour Test (lvvCCT), and the Universal Colour Discrimination Test (UCDT)...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29327488/isolation-of-human-photoreceptor-precursors-via-a-cell-surface-marker-panel-from-stem-cell-derived-retinal-organoids-and-fetal-retinae
#3
Jörn Lakowski, Emily Welby, Dimitri Budinger, Fabiana Di Marco, Valentina Di Foggia, James W B Bainbridge, Kyle Wallace, David M Gamm, Robin R Ali, Jane C Sowden
Loss of photoreceptor cells due to retinal degeneration is one of the main causes of blindness in the developed world. Although there is currently no effective treatment, cell replacement therapy using stem-cell-derived photoreceptor cells may be a feasible future treatment option. In order to ensure safety and efficacy of this approach, robust cell isolation and purification protocols must be developed. To this end, we previously developed a biomarker panel for the isolation of mouse photoreceptor precursors from the developing mouse retina and mouse embryonic stem cell cultures...
January 12, 2018: Stem Cells
https://www.readbyqxmd.com/read/29316359/whole-exome-sequencing-diagnoses-the-first-fetal-case-of-bainbridge-ropers-syndrome-presenting-as-pontocerebellar-hypoplasia-type-1
#4
Séverine Bacrot, Charlotte Mechler, Naima Talhi, Dominique Martin-Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschke, Sophie Thomas, Michel Vekemans, Férechté Razavi, Lucile Boutaud, Tania Attie-Bitach
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE: We report here the first case of prenatal BRPS in a fetus presenting with arthrogryposis on ultrasound and for pontocerebellar hypoplasia type 1 (PCH1) following neuropathological examination. The diagnosis was done by whole exome sequencing that identified a novel de novo ASXL3 mutation...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29307580/transplanted-donor-or-stem-cell-derived-cone-photoreceptors-can-both-integrate-and-undergo-material-transfer-in-an-environment-dependent-manner
#5
Paul V Waldron, Fabiana Di Marco, Kamil Kruczek, Joana Ribeiro, Anna B Graca, Claire Hippert, Nozie D Aghaizu, Aikaterini A Kalargyrou, Amanda C Barber, Giulia Grimaldi, Yanai Duran, Samuel J I Blackford, Magdalena Kloc, Debbie Goh, Eduardo Zabala Aldunate, Robert D Sampson, James W B Bainbridge, Alexander J Smith, Anai Gonzalez-Cordero, Jane C Sowden, Robin R Ali, Rachael A Pearson
Human vision relies heavily upon cone photoreceptors, and their loss results in permanent visual impairment. Transplantation of healthy photoreceptors can restore visual function in models of inherited blindness, a process previously understood to arise by donor cell integration within the host retina. However, we and others recently demonstrated that donor rod photoreceptors engage in material transfer with host photoreceptors, leading to the host cells acquiring proteins otherwise expressed only by donor cells...
January 4, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29305346/a-de-novo-nonsense-mutation-in-asxl3-shared-by-siblings-with-bainbridge-ropers-syndrome
#6
Daniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, Emily Sites, Dennis Bartholomew, Scott E Hickey, Kim McBride, Richard K Wilson, Peter White
Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy, and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent...
January 5, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29303385/achromatopsia-clinical-features-molecular-genetics-animal-models-and-therapeutic-options
#7
Nashila Hirji, Jonathan Aboshiha, Michalis Georgiou, James Bainbridge, Michel Michaelides
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches...
January 5, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29286783/search-for-evidence-of-the-type-iii-seesaw-mechanism-in-multilepton-final-states-in-proton-proton-collisions-at-sqrt-s-13%C3%A2-%C3%A2-tev
#8
A M Sirunyan, A Tumasyan, W Adam, F Ambrogi, E Asilar, T Bergauer, J Brandstetter, E Brondolin, M Dragicevic, J Erö, M Flechl, M Friedl, R Frühwirth, V M Ghete, J Grossmann, J Hrubec, M Jeitler, A König, N Krammer, I Krätschmer, D Liko, T Madlener, I Mikulec, E Pree, D Rabady, N Rad, H Rohringer, J Schieck, R Schöfbeck, M Spanring, D Spitzbart, W Waltenberger, J Wittmann, C-E Wulz, M Zarucki, V Chekhovsky, V Mossolov, J Suarez Gonzalez, E A De Wolf, D Di Croce, X Janssen, J Lauwers, H Van Haevermaet, P Van Mechelen, N Van Remortel, S Abu Zeid, F Blekman, J D'Hondt, I De Bruyn, J De Clercq, K Deroover, G Flouris, D Lontkovskyi, S Lowette, S Moortgat, L Moreels, Q Python, K Skovpen, S Tavernier, W Van Doninck, P Van Mulders, I Van Parijs, H Brun, B Clerbaux, G De Lentdecker, H Delannoy, G Fasanella, L Favart, R Goldouzian, A Grebenyuk, G Karapostoli, T Lenzi, J Luetic, T Maerschalk, A Marinov, A Randle-Conde, T Seva, C Vander Velde, P Vanlaer, D Vannerom, R Yonamine, F Zenoni, F Zhang, A Cimmino, T Cornelis, D Dobur, A Fagot, M Gul, I Khvastunov, D Poyraz, C Roskas, S Salva, M Tytgat, W Verbeke, N Zaganidis, H Bakhshiansohi, O Bondu, S Brochet, G Bruno, A Caudron, S De Visscher, C Delaere, M Delcourt, B Francois, A Giammanco, A Jafari, M Komm, G Krintiras, V Lemaitre, A Magitteri, A Mertens, M Musich, K Piotrzkowski, L Quertenmont, M Vidal Marono, S Wertz, N Beliy, W L Aldá Júnior, F L Alves, G A Alves, L Brito, M Correa Martins Junior, C Hensel, A Moraes, M E Pol, P Rebello Teles, E Belchior Batista Das Chagas, W Carvalho, J Chinellato, A Custódio, E M Da Costa, G G Da Silveira, D De Jesus Damiao, S Fonseca De Souza, L M Huertas Guativa, H Malbouisson, M Melo De Almeida, C Mora Herrera, L Mundim, H Nogima, A Santoro, A Sznajder, E J Tonelli Manganote, F Torres Da Silva De Araujo, A Vilela Pereira, S Ahuja, C A Bernardes, T R Fernandez Perez Tomei, E M Gregores, P G Mercadante, S F Novaes, Sandra S Padula, D Romero Abad, J C Ruiz Vargas, A Aleksandrov, R Hadjiiska, P Iaydjiev, M Misheva, M Rodozov, M Shopova, S Stoykova, G Sultanov, A Dimitrov, I Glushkov, L Litov, B Pavlov, P Petkov, W Fang, X Gao, M Ahmad, J G Bian, G M Chen, H S Chen, M Chen, Y Chen, C H Jiang, D Leggat, H Liao, Z Liu, F Romeo, S M Shaheen, A Spiezia, J Tao, C Wang, Z Wang, E Yazgan, H Zhang, J Zhao, Y Ban, G Chen, Q Li, S Liu, Y Mao, S J Qian, D Wang, Z Xu, C Avila, A Cabrera, L F Chaparro Sierra, C Florez, C F González Hernández, J D Ruiz Alvarez, B Courbon, N Godinovic, D Lelas, I Puljak, P M Ribeiro Cipriano, T Sculac, Z Antunovic, M Kovac, V Brigljevic, D Ferencek, K Kadija, B Mesic, A Starodumov, T Susa, M W Ather, A Attikis, G Mavromanolakis, J Mousa, C Nicolaou, F Ptochos, P A Razis, H Rykaczewski, M Finger, M Finger, E Carrera Jarrin, E El-Khateeb, S Elgammal, A Ellithi Kamel, R K Dewanjee, M Kadastik, L Perrini, M Raidal, A Tiko, C Veelken, P Eerola, J Pekkanen, M Voutilainen, J Härkönen, T Järvinen, V Karimäki, R Kinnunen, T Lampén, K Lassila-Perini, S Lehti, T Lindén, P Luukka, E Tuominen, J Tuominiemi, E Tuovinen, J Talvitie, T Tuuva, M Besancon, F Couderc, M Dejardin, D Denegri, J L Faure, F Ferri, S Ganjour, S Ghosh, A Givernaud, P Gras, G Hamel de Monchenault, P Jarry, I Kucher, E Locci, M Machet, J Malcles, G Negro, J Rander, A Rosowsky, M Ö Sahin, M Titov, A Abdulsalam, I Antropov, S Baffioni, F Beaudette, P Busson, L Cadamuro, C Charlot, R Granier de Cassagnac, M Jo, S Lisniak, A Lobanov, J Martin Blanco, M Nguyen, C Ochando, G Ortona, P Paganini, P Pigard, S Regnard, R Salerno, J B Sauvan, Y Sirois, A G Stahl Leiton, T Strebler, Y Yilmaz, A Zabi, A Zghiche, J-L Agram, J Andrea, D Bloch, J-M Brom, M Buttignol, E C Chabert, N Chanon, C Collard, E Conte, X Coubez, J-C Fontaine, D Gelé, U Goerlach, M Jansová, A-C Le Bihan, N Tonon, P Van Hove, S Gadrat, S Beauceron, C Bernet, G Boudoul, R Chierici, D Contardo, P Depasse, H El Mamouni, J Fay, L Finco, S Gascon, M Gouzevitch, G Grenier, B Ille, F Lagarde, I B Laktineh, M Lethuillier, L Mirabito, A L Pequegnot, S Perries, A Popov, V Sordini, M Vander Donckt, S Viret, T Toriashvili, D Lomidze, C Autermann, S Beranek, L Feld, M K Kiesel, K Klein, M Lipinski, M Preuten, C Schomakers, J Schulz, T Verlage, A Albert, E Dietz-Laursonn, D Duchardt, M Endres, M Erdmann, S Erdweg, T Esch, R Fischer, A Güth, M Hamer, T Hebbeker, C Heidemann, K Hoepfner, S Knutzen, M Merschmeyer, A Meyer, P Millet, S Mukherjee, M Olschewski, K Padeken, T Pook, M Radziej, H Reithler, M Rieger, F Scheuch, D Teyssier, S Thüer, G Flügge, B Kargoll, T Kress, A Künsken, J Lingemann, T Müller, A Nehrkorn, A Nowack, C Pistone, O Pooth, A Stahl, M Aldaya Martin, T Arndt, C Asawatangtrakuldee, K Beernaert, O Behnke, U Behrens, A Bermúdez Martínez, A A Bin Anuar, K Borras, V Botta, A Campbell, P Connor, C Contreras-Campana, F Costanza, C Diez Pardos, G Eckerlin, D Eckstein, T Eichhorn, E Eren, E Gallo, J Garay Garcia, A Geiser, A Gizhko, J M Grados Luyando, A Grohsjean, P Gunnellini, A Harb, J Hauk, M Hempel, H Jung, A Kalogeropoulos, M Kasemann, J Keaveney, C Kleinwort, I Korol, D Krücker, W Lange, A Lelek, T Lenz, J Leonard, K Lipka, W Lohmann, R Mankel, I-A Melzer-Pellmann, A B Meyer, G Mittag, J Mnich, A Mussgiller, E Ntomari, D Pitzl, A Raspereza, B Roland, M Savitskyi, P Saxena, R Shevchenko, S Spannagel, N Stefaniuk, G P Van Onsem, R Walsh, Y Wen, K Wichmann, C Wissing, O Zenaiev, S Bein, V Blobel, M Centis Vignali, T Dreyer, E Garutti, D Gonzalez, J Haller, A Hinzmann, M Hoffmann, A Karavdina, R Klanner, R Kogler, N Kovalchuk, S Kurz, T Lapsien, I Marchesini, D Marconi, M Meyer, M Niedziela, D Nowatschin, F Pantaleo, T Peiffer, A Perieanu, C Scharf, P Schleper, A Schmidt, S Schumann, J Schwandt, J Sonneveld, H Stadie, G Steinbrück, F M Stober, M Stöver, H Tholen, D Troendle, E Usai, L Vanelderen, A Vanhoefer, B Vormwald, M Akbiyik, C Barth, S Baur, E Butz, R Caspart, T Chwalek, F Colombo, W De Boer, A Dierlamm, B Freund, R Friese, M Giffels, A Gilbert, D Haitz, F Hartmann, S M Heindl, U Husemann, F Kassel, S Kudella, H Mildner, M U Mozer, Th Müller, M Plagge, G Quast, K Rabbertz, M Schröder, I Shvetsov, G Sieber, H J Simonis, R Ulrich, S Wayand, M Weber, T Weiler, S Williamson, C Wöhrmann, R Wolf, G Anagnostou, G Daskalakis, T Geralis, V A Giakoumopoulou, A Kyriakis, D Loukas, I Topsis-Giotis, G Karathanasis, S Kesisoglou, A Panagiotou, N Saoulidou, I Evangelou, C Foudas, P Kokkas, S Mallios, N Manthos, I Papadopoulos, E Paradas, J Strologas, F A Triantis, M Csanad, N Filipovic, G Pasztor, G Bencze, C Hajdu, D Horvath, Á Hunyadi, F Sikler, V Veszpremi, G Vesztergombi, A J Zsigmond, N Beni, S Czellar, J Karancsi, A Makovec, J Molnar, Z Szillasi, M Bartók, P Raics, Z L Trocsanyi, B Ujvari, S Choudhury, J R Komaragiri, S Bahinipati, S Bhowmik, P Mal, K Mandal, A Nayak, D K Sahoo, N Sahoo, S K Swain, S Bansal, S B Beri, V Bhatnagar, R Chawla, N Dhingra, A K Kalsi, A Kaur, M Kaur, R Kumar, P Kumari, A Mehta, J B Singh, G Walia, Ashok Kumar, Aashaq Shah, A Bhardwaj, S Chauhan, B C Choudhary, R B Garg, S Keshri, A Kumar, S Malhotra, M Naimuddin, K Ranjan, R Sharma, V Sharma, R Bhardwaj, R Bhattacharya, S Bhattacharya, U Bhawandeep, S Dey, S Dutt, S Dutta, S Ghosh, N Majumdar, A Modak, K Mondal, S Mukhopadhyay, S Nandan, A Purohit, A Roy, D Roy, S Roy Chowdhury, S Sarkar, M Sharan, S Thakur, P K Behera, R Chudasama, D Dutta, V Jha, V Kumar, A K Mohanty, P K Netrakanti, L M Pant, P Shukla, A Topkar, T Aziz, S Dugad, B Mahakud, S Mitra, G B Mohanty, N Sur, B Sutar, S Banerjee, S Bhattacharya, S Chatterjee, P Das, M Guchait, Sa Jain, S Kumar, M Maity, G Majumder, K Mazumdar, T Sarkar, N Wickramage, S Chauhan, S Dube, V Hegde, A Kapoor, K Kothekar, S Pandey, A Rane, S Sharma, S Chenarani, E Eskandari Tadavani, S M Etesami, M Khakzad, M Mohammadi Najafabadi, M Naseri, S Paktinat Mehdiabadi, F Rezaei Hosseinabadi, B Safarzadeh, M Zeinali, M Felcini, M Grunewald, M Abbrescia, C Calabria, C Caputo, A Colaleo, D Creanza, L Cristella, N De Filippis, M De Palma, F Errico, L Fiore, G Iaselli, S Lezki, G Maggi, M Maggi, G Miniello, S My, S Nuzzo, A Pompili, G Pugliese, R Radogna, A Ranieri, G Selvaggi, A Sharma, L Silvestris, R Venditti, P Verwilligen, G Abbiendi, C Battilana, D Bonacorsi, S Braibant-Giacomelli, R Campanini, P Capiluppi, A Castro, F R Cavallo, S S Chhibra, G Codispoti, M Cuffiani, G M Dallavalle, F Fabbri, A Fanfani, D Fasanella, P Giacomelli, C Grandi, L Guiducci, S Marcellini, G Masetti, A Montanari, F L Navarria, A Perrotta, A M Rossi, T Rovelli, G P Siroli, N Tosi, S Albergo, S Costa, A Di Mattia, F Giordano, R Potenza, A Tricomi, C Tuve, G Barbagli, K Chatterjee, V Ciulli, C Civinini, R D'Alessandro, E Focardi, P Lenzi, M Meschini, S Paoletti, L Russo, G Sguazzoni, D Strom, L Viliani, L Benussi, S Bianco, F Fabbri, D Piccolo, F Primavera, C Biggio, V Calvelli, F Ferro, E Robutti, S Tosi, L Brianza, F Brivio, V Ciriolo, M E Dinardo, S Fiorendi, S Gennai, A Ghezzi, P Govoni, M Malberti, S Malvezzi, R A Manzoni, D Menasce, L Moroni, M Paganoni, K Pauwels, D Pedrini, S Pigazzini, S Ragazzi, T Tabarelli de Fatis, S Buontempo, N Cavallo, S Di Guida, F Fabozzi, F Fienga, A O M Iorio, W A Khan, L Lista, S Meola, P Paolucci, C Sciacca, F Thyssen, P Azzi, N Bacchetta, L Benato, D Bisello, A Boletti, R Carlin, A Carvalho Antunes De Oliveira, P Checchia, P De Castro Manzano, T Dorigo, F Gasparini, U Gasparini, A Gozzelino, S Lacaprara, P Lujan, M Margoni, A T Meneguzzo, N Pozzobon, P Ronchese, R Rossin, F Simonetto, E Torassa, M Zanetti, P Zotto, G Zumerle, A Braghieri, F Fallavollita, A Magnani, P Montagna, S P Ratti, V Re, M Ressegotti, C Riccardi, P Salvini, I Vai, P Vitulo, L Alunni Solestizi, M Biasini, G M Bilei, C Cecchi, D Ciangottini, L Fanò, P Lariccia, R Leonardi, E Manoni, G Mantovani, V Mariani, M Menichelli, A Rossi, A Santocchia, D Spiga, K Androsov, P Azzurri, G Bagliesi, J Bernardini, T Boccali, L Borrello, R Castaldi, M A Ciocci, R Dell'Orso, G Fedi, L Giannini, A Giassi, M T Grippo, F Ligabue, T Lomtadze, E Manca, G Mandorli, L Martini, A Messineo, F Palla, A Rizzi, A Savoy-Navarro, P Spagnolo, R Tenchini, G Tonelli, A Venturi, P G Verdini, L Barone, F Cavallari, M Cipriani, N Daci, D Del Re, M Diemoz, S Gelli, E Longo, F Margaroli, B Marzocchi, P Meridiani, G Organtini, R Paramatti, F Preiato, S Rahatlou, C Rovelli, F Santanastasio, N Amapane, R Arcidiacono, S Argiro, M Arneodo, N Bartosik, R Bellan, C Biino, N Cartiglia, F Cenna, M Costa, R Covarelli, A Degano, N Demaria, B Kiani, C Mariotti, S Maselli, E Migliore, V Monaco, E Monteil, M Monteno, M M Obertino, L Pacher, N Pastrone, M Pelliccioni, G L Pinna Angioni, F Ravera, A Romero, M Ruspa, R Sacchi, K Shchelina, V Sola, A Solano, A Staiano, P Traczyk, S Belforte, M Casarsa, F Cossutti, G Della Ricca, A Zanetti, D H Kim, G N Kim, M S Kim, J Lee, S Lee, S W Lee, C S Moon, Y D Oh, S Sekmen, D C Son, Y C Yang, A Lee, H Kim, D H Moon, G Oh, J A Brochero Cifuentes, J Goh, T J Kim, S Cho, S Choi, Y Go, D Gyun, S Ha, B Hong, Y Jo, Y Kim, K Lee, K S Lee, S Lee, J Lim, S K Park, Y Roh, J Almond, J Kim, J S Kim, H Lee, K Lee, K Nam, S B Oh, B C Radburn-Smith, S H Seo, U K Yang, H D Yoo, G B Yu, M Choi, H Kim, J H Kim, J S H Lee, I C Park, G Ryu, Y Choi, C Hwang, J Lee, I Yu, V Dudenas, A Juodagalvis, J Vaitkus, I Ahmed, Z A Ibrahim, M A B Md Ali, F Mohamad Idris, W A T Wan Abdullah, M N Yusli, Z Zolkapli, R Reyes-Almanza, G Ramirez-Sanchez, M C Duran-Osuna, H Castilla-Valdez, E De La Cruz-Burelo, I Heredia-De La Cruz, R I Rabadan-Trejo, R Lopez-Fernandez, J Mejia Guisao, A Sanchez-Hernandez, S Carrillo Moreno, C Oropeza Barrera, F Vazquez Valencia, I Pedraza, H A Salazar Ibarguen, C Uribe Estrada, A Morelos Pineda, D Krofcheck, P H Butler, A Ahmad, M Ahmad, Q Hassan, H R Hoorani, A Saddique, M A Shah, M Shoaib, M Waqas, H Bialkowska, M Bluj, B Boimska, T Frueboes, M Górski, M Kazana, K Nawrocki, K Romanowska-Rybinska, M Szleper, P Zalewski, K Bunkowski, A Byszuk, K Doroba, A Kalinowski, M Konecki, J Krolikowski, M Misiura, M Olszewski, A Pyskir, M Walczak, P Bargassa, C Beirão Da Cruz E Silva, B Calpas, A Di Francesco, P Faccioli, M Gallinaro, J Hollar, N Leonardo, L Lloret Iglesias, M V Nemallapudi, J Seixas, O Toldaiev, D Vadruccio, J Varela, S Afanasiev, P Bunin, M Gavrilenko, I Golutvin, I Gorbunov, A Kamenev, V Karjavin, A Lanev, A Malakhov, V Matveev, V Palichik, V Perelygin, S Shmatov, S Shulha, N Skatchkov, V Smirnov, N Voytishin, A Zarubin, Y Ivanov, V Kim, E Kuznetsova, P Levchenko, V Murzin, V Oreshkin, I Smirnov, V Sulimov, L Uvarov, S Vavilov, A Vorobyev, Yu Andreev, A Dermenev, S Gninenko, N Golubev, A Karneyeu, M Kirsanov, N Krasnikov, A Pashenkov, D Tlisov, A Toropin, V Epshteyn, V Gavrilov, N Lychkovskaya, V Popov, I Pozdnyakov, G Safronov, A Spiridonov, A Stepennov, M Toms, E Vlasov, A Zhokin, T Aushev, A Bylinkin, R Chistov, M Danilov, P Parygin, D Philippov, S Polikarpov, E Tarkovskii, V Andreev, M Azarkin, I Dremin, M Kirakosyan, A Terkulov, A Baskakov, A 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Rathjens, A Safonov, A Tatarinov, K A Ulmer, N Akchurin, J Damgov, F De Guio, P R Dudero, J Faulkner, E Gurpinar, S Kunori, K Lamichhane, S W Lee, T Libeiro, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, X Sun, Y Wang, E Wolfe, F Xia, R Harr, P E Karchin, J Sturdy, S Zaleski, M Brodski, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
A search for a signal consistent with the type-III seesaw mechanism in events with three or more electrons or muons is presented. The data sample consists of proton-proton collisions at sqrt[s]=13  TeV collected by the CMS experiment at the LHC in 2016 and corresponds to an integrated luminosity of 35.9  fb^{-1}. Selection criteria based on the number of leptons and the invariant mass of oppositely charged lepton pairs are used to distinguish the signal from the standard model background. The observations are consistent with the expectations from standard model processes...
December 1, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29286735/observation-of-top-quark-production-in-proton-nucleus-collisions
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Sperka, N Terentyev, L Thomas, J Wang, S Wang, J Yelton, Y R Joshi, S Linn, P Markowitz, J L Rodriguez, A Ackert, T Adams, A Askew, S Hagopian, V Hagopian, K F Johnson, T Kolberg, G Martinez, T Perry, H Prosper, A Saha, A Santra, V Sharma, R Yohay, M M Baarmand, V Bhopatkar, S Colafranceschi, M Hohlmann, D Noonan, T Roy, F Yumiceva, M R Adams, L Apanasevich, D Berry, R R Betts, R Cavanaugh, X Chen, O Evdokimov, C E Gerber, D A Hangal, D J Hofman, K Jung, J Kamin, I D Sandoval Gonzalez, M B Tonjes, H Trauger, N Varelas, H Wang, Z Wu, J Zhang, B Bilki, W Clarida, K Dilsiz, S Durgut, R P Gandrajula, M Haytmyradov, V Khristenko, J-P Merlo, H Mermerkaya, A Mestvirishvili, A Moeller, J Nachtman, H Ogul, Y Onel, F Ozok, A Penzo, C Snyder, E Tiras, J Wetzel, K Yi, B Blumenfeld, A Cocoros, N Eminizer, D Fehling, L Feng, A V Gritsan, P Maksimovic, J Roskes, U Sarica, M Swartz, M Xiao, C You, A Al-Bataineh, P Baringer, A Bean, S Boren, J Bowen, J Castle, S Khalil, A Kropivnitskaya, D Majumder, W Mcbrayer, M Murray, C Rogan, C Royon, S Sanders, E Schmitz, J D Tapia Takaki, Q Wang, A Ivanov, K Kaadze, Y Maravin, A Mohammadi, L K Saini, N Skhirtladze, F Rebassoo, D Wright, A Baden, O Baron, A Belloni, S C Eno, Y Feng, C Ferraioli, N J Hadley, S Jabeen, G Y Jeng, R G Kellogg, J Kunkle, A C Mignerey, F Ricci-Tam, Y H Shin, A Skuja, S C Tonwar, D Abercrombie, B Allen, V Azzolini, R Barbieri, A Baty, R Bi, S Brandt, W Busza, I A Cali, M D'Alfonso, Z Demiragli, G Gomez Ceballos, M Goncharov, D Hsu, M Hu, Y Iiyama, G M Innocenti, M Klute, D Kovalskyi, Y-J Lee, A Levin, P D Luckey, B Maier, A C Marini, C Mcginn, C Mironov, S Narayanan, X Niu, C Paus, C Roland, G Roland, J Salfeld-Nebgen, G S F Stephans, K Tatar, D Velicanu, J Wang, T W Wang, B Wyslouch, A C Benvenuti, R M Chatterjee, A Evans, P Hansen, J Hiltbrand, S Kalafut, Y Kubota, Z Lesko, J Mans, S Nourbakhsh, N Ruckstuhl, R Rusack, J Turkewitz, M A Wadud, J G Acosta, S Oliveros, E Avdeeva, K Bloom, D R Claes, C Fangmeier, F Golf, R Gonzalez Suarez, R Kamalieddin, I Kravchenko, J Monroy, J E Siado, G R Snow, B Stieger, J Dolen, A Godshalk, C Harrington, I Iashvili, D Nguyen, A Parker, S Rappoccio, B Roozbahani, G Alverson, E Barberis, C Freer, A Hortiangtham, A Massironi, D M Morse, T Orimoto, R Teixeira De Lima, D Trocino, T Wamorkar, B Wang, A Wisecarver, D Wood, S Bhattacharya, O Charaf, K A Hahn, N Mucia, N Odell, M H Schmitt, K Sung, M Trovato, M Velasco, R Bucci, N Dev, M Hildreth, K Hurtado Anampa, C Jessop, D J Karmgard, N Kellams, K Lannon, W Li, N Loukas, N Marinelli, F Meng, C Mueller, Y Musienko, M Planer, A Reinsvold, R Ruchti, P Siddireddy, G Smith, S Taroni, M Wayne, A Wightman, M Wolf, A Woodard, J Alimena, L Antonelli, B Bylsma, L S Durkin, S Flowers, B Francis, A Hart, C Hill, W Ji, B Liu, W Luo, B L Winer, H W Wulsin, S Cooperstein, O Driga, P Elmer, J Hardenbrook, P Hebda, S Higginbotham, A Kalogeropoulos, D Lange, J Luo, D Marlow, K Mei, I Ojalvo, J Olsen, C Palmer, P Piroué, D Stickland, C Tully, S Malik, S Norberg, A Barker, V E Barnes, S Das, S Folgueras, L Gutay, M Jones, A W Jung, A Khatiwada, D H Miller, N Neumeister, C C Peng, H Qiu, J F Schulte, J Sun, F Wang, R Xiao, W Xie, T Cheng, N Parashar, J Stupak, Z Chen, K M Ecklund, S Freed, F J M Geurts, M Guilbaud, M Kilpatrick, W Li, B Michlin, B P Padley, J Roberts, J Rorie, W Shi, Z Tu, J Zabel, A Zhang, A Bodek, P de Barbaro, R Demina, Y T Duh, T Ferbel, M Galanti, A Garcia-Bellido, J Han, O Hindrichs, A Khukhunaishvili, K H Lo, P Tan, M Verzetti, R Ciesielski, K Goulianos, C Mesropian, A Agapitos, J P Chou, Y Gershtein, T A Gómez Espinosa, E Halkiadakis, M Heindl, E Hughes, S Kaplan, R Kunnawalkam Elayavalli, S Kyriacou, A Lath, R Montalvo, K Nash, M Osherson, H Saka, S Salur, S Schnetzer, D Sheffield, S Somalwar, R Stone, S Thomas, P Thomassen, M Walker, A G Delannoy, J Heideman, G Riley, K Rose, S Spanier, K Thapa, O Bouhali, A Castaneda Hernandez, A Celik, M Dalchenko, M De Mattia, A Delgado, S Dildick, R Eusebi, J Gilmore, T Huang, T Kamon, R Mueller, Y Pakhotin, R Patel, A Perloff, L Perniè, D Rathjens, A Safonov, A Tatarinov, K A Ulmer, N Akchurin, J Damgov, F De Guio, P R Dudero, J Faulkner, E Gurpinar, S Kunori, K Lamichhane, S W Lee, T Libeiro, T Mengke, S Muthumuni, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, K Padeken, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, M Joyce, A Ledovskoy, H Li, C Neu, T Sinthuprasith, Y Wang, E Wolfe, F Xia, R Harr, P E Karchin, N Poudyal, J Sturdy, P Thapa, S Zaleski, M Brodski, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
The first observation of top quark production in proton-nucleus collisions is reported using proton-lead data collected by the CMS experiment at the CERN LHC at a nucleon-nucleon center-of-mass energy of sqrt[s_{NN}]=8.16  TeV. The measurement is performed using events with exactly one isolated electron or muon candidate and at least four jets. The data sample corresponds to an integrated luminosity of 174  nb^{-1}. The significance of the tt[over ¯] signal against the background-only hypothesis is above 5 standard deviations...
December 15, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29283868/a-review-of-the-essential-components-of-quality-palliative-care-in-the-home
#10
Hsien Seow, Daryl Bainbridge
OBJECTIVE: The home is an important and often preferable setting of palliative care. While much research has demonstrated the benefits of specialized palliative homecare on patient and system outcomes, there has been little delineation of the underlying components of these efficacious programs. We synthesized the essential elements of palliative homecare from a combined review of successful programs, perspectives of patients and caregivers, and views of healthcare providers in palliative care...
January 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29273477/transfusion-requirements-in-cardiac-surgery-iii-trics-iii-study-design-of-a-randomized-controlled-trial
#11
Nadine Shehata, Richard Whitlock, Dean A Fergusson, Kevin E Thorpe, Charlie MacAdams, Hilary P Grocott, Fraser Rubens, Stephen Fremes, Francois Lellouche, Sean Bagshaw, Alistair Royse, Peter M Rosseel, Greg Hare, Etienne De Medicis, Christopher Hudson, Emilie Belley-Cote, Daniel Bainbridge, Blaine Kent, Andrew Shaw, Kelly Byrne, Summer Syed, Colin F Royse, Shay McGuiness, Judith Hall, C David Mazer
OBJECTIVES: To determine if a restrictive transfusion threshold is noninferior to a higher threshold as measured by a composite outcome of mortality and serious morbidity. DESIGN: Transfusion Requirements in Cardiac Surgery (TRICS) III was a multicenter, international, open-label randomized controlled trial of two commonly used transfusion strategies in patients having cardiac surgery using a noninferiority trial design (ClinicalTrials.gov number, NCT02042898). SETTING: Eligible patients were randomized prior to surgery in a 1:1 ratio...
November 3, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29221976/modeling-patient-specific-deformable-mitral-valves
#12
REVIEW
Olivia Ginty, John Moore, Terry Peters, Daniel Bainbridge
Medical imaging has advanced enormously over the last few decades, revolutionizing patient diagnostics and care. At the same time, additive manufacturing has emerged as a means of reproducing physical shapes and models previously not possible. In combination, they have given rise to 3-dimensional (3D) modeling, an entirely new technology for physicians. In an era in which 3D imaging has become a standard for aiding in the diagnosis and treatment of cardiac disease, this visualization now can be taken further by bringing the patient's anatomy into physical reality as a model...
September 7, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29218595/quantitative-testing-of-prescriber-knowledge-regarding-the-risks-and-safe-use-of-albiglutide
#13
Carol Koro, Janet Pientka, Veronica Bainbridge, Natalie O'Donnell, Monika Stender, Annette Stemhagen
BACKGROUND: The risk of pancreatitis and potential risk of medullary thyroid carcinoma associated with glucagon-like peptide-1 receptor agonists prompted the US Food and Drug Administration to require a Risk Evaluation and Mitigation Strategy for albiglutide, including education for prescribers and subsequent assessment of their knowledge of the risks and safe use of albiglutide via a quantitative survey. OBJECTIVE: The objective of this study was to assess prescribers' knowledge of the risks related to medullary thyroid carcinoma, pancreatitis, and the appropriate patient population for albiglutide...
December 7, 2017: Drugs—Real World Outcomes
https://www.readbyqxmd.com/read/29218271/magnetic-resonance-imaging-in-precision-radiation-therapy-for-lung-cancer
#14
REVIEW
Hannah Bainbridge, Ahmed Salem, Rob H N Tijssen, Michael Dubec, Andreas Wetscherek, Corinne Van Es, Jose Belderbos, Corinne Faivre-Finn, Fiona McDonald
Radiotherapy remains the cornerstone of curative treatment for inoperable locally advanced lung cancer, given concomitantly with platinum-based chemotherapy. With poor overall survival, research efforts continue to explore whether integration of advanced radiation techniques will assist safe treatment intensification with the potential for improving outcomes. One advance is the integration of magnetic resonance imaging (MRI) in the treatment pathway, providing anatomical and functional information with excellent soft tissue contrast without exposure of the patient to radiation...
December 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/29210760/a-pilot-study-of-responses-to-suctioning-among-neonates-on-bubble-nasal-continuous-positive-airway-pressure
#15
Michele Sweet, Debra Armbruster, Erin Bainbridge, Brianna Reiner, Alai Tan, Esther Chipps
BACKGROUND: Maintenance of a patent airway while the neonate is on nasal continuous positive airway pressure (nasal CPAP) requires vigilant monitoring and oral/nasopharyngeal suctioning. Currently, no evidence-based guidelines for safe suctioning in neonates while on bubble nasal CPAP have been published. PURPOSE: (1) To characterize the clinical and behavioral responses of neonates on bubble nasal CPAP in a level III neonatal intensive care unit following routine oral and nasopharyngeal suctioning...
December 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29208619/encouraging-translation-and-assessing-impact-of-the-centre-for-research-excellence-in-integrated-quality-improvement-rationale-and-protocol-for-a-research-impact-assessment
#16
Shanthi Ramanathan, Penny Reeves, Simon Deeming, Ross Stewart Bailie, Jodie Bailie, Roxanne Bainbridge, Frances Cunningham, Christopher Doran, Karen McPhail Bell, Andrew Searles
INTRODUCTION: There is growing recognition among health researchers and funders that the wider benefits of research such as economic, social and health impacts ought to be assessed and valued alongside academic outputs such as peer-reviewed papers. Research translation needs to increase and the pathways to impact ought to be more transparent. These processes are particularly pertinent to the Indigenous health sector given continued concerns that Indigenous communities are over-researched with little corresponding improvement in health outcomes...
December 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/29189967/evaluation-of-a-specialized-oncology-nursing-supportive-care-intervention-in-newly-diagnosed-breast-and-colorectal-cancer-patients-following-surgery-a-cluster-randomized-trial
#17
Jonathan Sussman, Daryl Bainbridge, Timothy J Whelan, Kevin Brazil, Sameer Parpia, Jennifer Wiernikowski, Susan Schiff, Gary Rodin, Myles Sergeant, Doris Howell
BACKGROUND: Better coordination of supportive services during the early phases of cancer care has been proposed to improve the care experience of patients. We conducted a randomized trial to test a community-based nurse-led coordination of care intervention in cancer patients. METHODS: Surgical practices were cluster randomized to a control group involving usual care practices or a standardized nursing intervention consisting of an in-person supportive care assessment with ongoing support to meet identified needs, including linkage to community services...
November 30, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29188796/in-situ-regeneration-of-retinal-pigment-epithelium-by-gene-transfer-of-e2f2-a-potential-strategy-for-treatment-of-macular-degenerations
#18
D Kampik, M Basche, U F O Luhmann, K M Nishiguchi, J A E Williams, J Greenwood, S E Moss, H Han, S Azam, Y Duran, S J Robbie, J W B Bainbridge, D F Larkin, A J Smith, R R Ali
The retinal pigment epithelium (RPE) interacts closely with photoreceptors to maintain visual function. In degenerative diseases such as Stargardt disease and age-related macular degeneration, the leading cause of blindness in the developed world, RPE cell loss is followed by photoreceptor cell death. RPE cells can proliferate under certain conditions, suggesting an intrinsic regenerative potential, but so far this has not been utilised therapeutically. Here, we used E2F2 to induce RPE cell replication and thereby regeneration...
November 30, 2017: Gene Therapy
https://www.readbyqxmd.com/read/29169798/cardioplegia-during-minimally-invasive-mitral-valve-surgery-a-team-approach
#19
EDITORIAL
Daniel Bainbridge, Philip Fernandes, Michael W A Chu
No abstract text is available yet for this article.
October 12, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29166917/collaborative-action-for-person-centred-coordinated-care-p3c-an-approach-to-support-the-development-of-a-comprehensive-system-wide-solution-to-fragmented-care
#20
Helen M Lloyd, Mark Pearson, Rod Sheaff, Sheena Asthana, Hannah Wheat, Thava Priya Sugavanam, Nicky Britten, Jose Valderas, Michael Bainbridge, Louise Witts, Debra Westlake, Jane Horrell, Richard Byng
BACKGROUND: Fragmented care results in poor outcomes for individuals with complexity of need. Person-centred coordinated care (P3C) is perceived to be a potential solution, but an absence of accessible evidence and the lack of a scalable 'blue print' mean that services are 'experimenting' with new models of care with little guidance and support. This paper presents an approach to the implementation of P3C using collaborative action, providing examples of early developments across this programme of work, the core aim of which is to accelerate the spread and adoption of P3C in United Kingdom primary care settings...
November 22, 2017: Health Research Policy and Systems
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