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1. Status of Bioinformatics Education in South Asia: Past and Present

Author

Ali, Muhammad Muddassir, Hamid, Muhammad, Saleem, Muhammad, Malik, Saadia, Mian, Natash Ali, Ihsan, Muhammad Ahmed, Tabassum, Nadia, Mehmood, Khalid, and Awan, Furqan

Subjects
Article Subject
Abstract

Bioinformatics education has been a hot topic in South Asia, and the interest in this education peaks with the start of the 21st century. The governments of South Asian countries had a systematic effort for bioinformatics. They developed the infrastructures to provide maximum facility to the scientific community to gain maximum output in this field. This article renders bioinformatics, measures, and its importance of implementation in South Asia with proper ways of improving bioinformatics education flaws. It also addresses the problems faced in South Asia and proposes some recommendations regarding bioinformatics education. The information regarding bioinformatics education and institutes was collected from different existing research papers, databases, and surveys. The information was then confirmed by visiting each institution’s website, while problems and solutions displayed in the article are mostly in line with South Asian bioinformatics conferences and institutions’ objectives. Among South Asian countries, India and Pakistan have developed infrastructure and education regarding bioinformatics rapidly as compared to other countries, whereas Bangladesh, Sri Lanka, and Nepal are still in a progressing phase in this field. To advance in a different sector, the bioinformatics industry has to be revolutionized, and it will contribute to strengthening the pharmaceutical, agricultural, and molecular sectors in South Asia. To advance in bioinformatics, universities’ infrastructure needs to be on a par with the current international standards, which will produce well-trained professionals with skills in multiple fields like biotechnology, mathematics, statistics, and computer science. The bioinformatics industry has revolutionized and strengthened the pharmaceutical, agricultural, and molecular sectors in South Asia, and it will serve as the standard of education increases in the South Asian countries. A framework for developing a centralized database is suggested after the literature review to collect and store the information on the current status of South Asian bioinformatics education. This will be named as the South Asian Bioinformatics Education Database (SABE). This will provide comprehensive information regarding the bioinformatics in South Asian countries by the country name, the experts of this field, and the university name to explore the top-ranked outputs relevant to queries.

Published
2021
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2. BHPR research: qualitative1. Complex reasoning determines patients' perception of outcome following foot surgery in rheumatoid arhtritis

Author

Backhouse, Michael R., Vinall, Karen A., Redmond, Anthony, Helliwell, Philip, Keenan, Anne-Maree, Dale, Rebecca M., Thomas, Amanda, Aronson, Diane, Turner-Cobb, Julie, Sengupta, Raj, France, Brisa, Hill, Ingrid, Flurey, Caroline A., Morris, Marianne, Pollock, Jon, Hughes, Rod, Richards, Pam, Hewlett, Sarah, Ryan, Sarah, Lille, Kate, Adams, Jo, Haq, Inam, McArthur, Margaret, Goodacre, Lynne, Birt, Linda, Wilson, Oonagh, Kirwan, John, Dures, Emma, Quest, Enid, Rajak, Rizwan, Thomas, Tasmin, Lawson, Tom, Petford, Sharon, Hale, Elizabeth, Kitas, George D., Gooberman-Hill, Rachael, Jinks, Clare, Dziedzic, Krysia, Bouças, Sofia Barbosa, Hislop, Kelly, Rhodes, Carol, Ali, Fizzah, Ong, Bie Nio, White, Derrick, Hensor, Elizabeth, Ferguson, Anna M., Douiri, Abdel, Scott, David L., Lempp, Heidi, Halls, Serena, Law, Rebecca-Jane, Jones, Jeremy, Markland, David, Maddison, Peter, Thom, Jeanette, Thom, Jeanette M., Breslin, Anne, Kraus, Alexandra, Gordhan, Chandrika, Dennis, Sean, Connor, John, Chowdhary, Bhavani, Lottay, Neena, Juneja, Parmjit, Bacon, Paul A., Isaacs, David, Jack, James, Keller, Majella, Tibble, Jeremy, Hammond, Alison, Gill, Rachel, Tyson, Sarah, Tennant, Alan, Nordenskiold, Ulla, Pease, Emily E., Pease, Colin T., Trehane, Anne, Rahmeh, Fouz, Cornell, Patricia, Westlake, Sarah L., Rose, Katy, Alber, Catherine Fouad, Watson, Liam, Stratton, Richard, Lazarus, Mark, McNeilly, Natasha E., Waterfield, Jackie, Hurley, Mike, Greenwood, James, Clayton, Ann M., Lynch, Michael, Clewes, Adrian, Dawson, Julie, Abernethy, Veronica, Griffiths, Ann E., Chamberlain, Victoria A., McLoughlin, YokeMei, Campbell, Sophie, Hayes, Janita, Moffat, Claire, McKenna, Frank, Shah, Preeti, Williams, Ann, Rhys-Dillon, Ceril, Goodfellow, Rhian, Martin, James C., Bari, Farhan, Hughes, Gwenan, Thomas, Eleri, Baker, Sarah, Collins, David, Price, Elizabeth, Williamson, Lyn, Dunkley, Lisa, Youll, Matthew J., Rodziewicz, Mia, Reynolds, John A., Berry, Jacqueline, Pavey, Chee, Hyrich, Kimme, Gorodkin, Rachel, Wilkinson, Kate, Bruce, Ian, Barton, Anne, Silman, Alan, Ho, Pauline, Cornell, Tricia, Richards, Selwyn, Holmes, A., Parker, S., Smith, H., Briggs, N., Arthanari, S., Nisar, M., Thwaites, Catharine, Kamath, Sanjeet, Price, Shyra, Robinson, Sandra M., Walker, David, Coop, Hazel, Al-Allaf, Wahab, Charleton, Rebecca C., Griffiths, Bridget, Edwards, Elizabeth A., Partlett, Rosamund, Martin, Keith, Tarzi, Mike, Panthakalam, Sathianathan, Freeman, Tanya, Ainley, Louise, Turner, Michael, Hughes, Lyndsay, Russell, Bridget, Jenkins, Suzanne, Done, John, Young, Adam, Jones, Tadeusz, Gaywood, Ian C., Pande, Ira, Pradère, Marie-Josèphe, Bhaduri, Mahua, Smith, Angela, Cook, Haley, Abraham, Sonya, Ngcozana, Tanaka, Denton, Christopher P., Parker, Louise, Black, Carol M., Ong, Voon, Thompson, Nicola, White, Catherine, Duddy, Martin, Jobanputra, Paresh, Bacon, Pauline, Smith, Jacqueline, Richardson, Ann, Giancola, Giorgio, Soh, Vicky, Spencer, Simon, Greenhalgh, Ann, Hanson, Mark, De Lord, Denise, Lloyd, Mark, Wong, Henna, Wren, Damian, Grover, Bob, Hall, John, Neville, Cai, Alton, Peter, Kelly, Stephen, Bombardieri, Michele, Humby, Fran, Ng, Nora, Di Cicco, Maria, Hands, Rebecca, Epis, Oscar, Filer, Andrew, Buckley, Christopher, McInnes, Iain, Taylor, Peter, Pitzalis, Costantino, Freeston, Jane, Conaghan, Philip, Grainger, Andrew, O'Connor, Philip J., Evans, Rob, Emery, Paul, Hodgson, Richard, Fleischmann, Roy, Han, Chenglong, van der Heijde, Desiree, Xu, Weichun, Hsia, Elizabeth, Kavanaugh, Arthur, Gladman, Dafna, Chattopadhyay, Chandrabhusan, Beutler, Anna, Zayat, Ahmed S., Ellegard, Karen, Terslev, Lene, Wakefield, Richard J., Ciurtin, Coziana, Leandro, Maria, Dey, Dzifa, Nandagudi, Anupama, Giles, Ian, Shipley, Mike, Morris, Vanessa, Ioannou, John, Ehrenstein, Michael, Sen, Debajit, Chan, Marian, Quinlan, Tim M., Brophy, Richard, Mewar, Devesh, Patel, Dipti, Wilby, M. J., Pellegrini, Vincent, Eyes, Brian, Crooks, Daniel, Anderson, Marina, Ball, Elisabeth, McKeeman, Helen, Burns, James, Yau, Wing Hoi, Moore, Owen, Foo, Joanne, Benson, Claire, Patterson, Chris, Wright, Gary, Taggart, Allister, Drew, Sarah, Tanner, Lorraine, Sanyal, Kaushik, Bourke, Brian E., Alston, Claire, Baqai, Charlotte, Chard, Michael, Sandhu, Virinderjit, Jordan, Kelsey, Munns, Catherine, Zouita, Louisa, Shattles, Warren, Davies, Ursula, Makadsi, Raad, Griffith, Sian, Kiely, Patrick D., Dimofte, Ionela, Dabu, Mihaela, Dabu, Bogdan, Dobarro, David, Schreiber, Benjamin E., Warrell, Clare, Handler, Clive, Coghlan, Gerry, Denton, Chris, Ishorari, Jasmine, Bunn, Chris, Beynon, Huw, George Malal, Joby J., Boton-Maggs, Ben, Leung, Alexander, Farewell, Daniel, Choy, Ernest, Gullick, Nicola J., Choy, Ernest H., Wincup, Chris, Fisher, Ben, Charles, Peter, Pollard, Louise C., Kirkham, Bruce W., Ma, Margaret H., Ramanujan, Saroja, Cavet, Guy, Haney, Doug, Kingsley, Gabrielle H., Scott, David, Cope, Andrew, Singh, Animesh, Wilson, Jo, Isaacs, Anthony, Wing, Charlotte, McLaughlin, Maeve, Penn, Henry, Genovese, Mark C., Sebba, Anthony, Rubbert-Roth, Andrea, Scali, Juan, Zilberstein, Moshe, Thompson, Liz, Van Vollenhoven, Ronald, De Benedetti, Fabrizio, Brunner, Hermine, Allen, Roger, Brown, Diane, Chaitow, Jeffrey, Pardeo, Manuela, Espada, Graciela, Flato, Berit, Horneff, Gerd, Devlin, Clare, Kenwright, Andrew, Schneider, Rayfel, Woo, Patricia, Martini, Alberto, Lovell, Daniel, Ruperto, Nicola, John, Holly, Hale, Elizabeth D., Treharne, Gareth J., Carroll, Douglas, Mercer, Louise, Low, Audrey, Galloway, James, Watson, Kath, Lunt, Mark, Symmons, Deborah, Davies, Rebecca, Dixon, William, Balarajah, Sharmili, Sandhu, Amrita, Ariyo, Mercy, Rankin, Elizabeth, Sandoo, Aamer, van Zanten, Jet J. Veldhuijzen, Toms, Tracey E., Smith, Jacqueline P., Malik, Saadia, Toberty, Elizabeth, Thalayasingam, Nishanthi, Hamilton, Jennifer, Kelly, Clive, Puntis, Daniel, Saravanan, Vadivelu, Rynne, Martin, Heycock, Carol, Winter, Richard, Wardle, Phil, Toms, Tracey, Cadman, Susan, Nightingale, Peter, Kitas, George, Alhusain, Awal Z., Verstappen, Suzanne M., Mirjafari, Hoda, Charlton-Menys, Valentine, Bunn, Diane, Durrington, Paul, Cooney, Jennifer K., Moore, Jonathan P., Lemmey, Andrew, Jones, Jeremy G., Maddison, Peter J., Ahmad, Yasmeen A., Ahmed, Tazeen J., Leone, Francesca, Browne, Hannah K., Wig, Surabhi, Chevance, Aurelie, Moore, Tonia, Manning, Joanne, Vail, Andy, Herrick, Ariane L., Derrett-Smith, Emma, Hoyles, Rachel, Moinzadeh, Pia, Chighizola, Cecilia, Khan, Korsa, Abraham, David, Warrell, Clare E., Sykes, Rebecca, Muir, Lindsay, Ennis, Holly, Shiwen, Xu, Thompson, Katherine, Liu, Shangxi, Leask, Andrew, Abraham, David J., Strickland, Gemma, Pauling, John, Betteridge, Zoe, Dunphy, Juliet, Owen, Pat, McHugh, Neil, Abignano, Giuseppina, Cuomo, Giovanna, Buch, Maya H., Rosenberg, William M., Valentini, Gabriele, Del Galdo, Francesco, Jenkins, Jessica, Pauling, John D., Howell, Kevin, Nihtyanova, Svetlana, Fonseca, Carmen, Malaviya, Anshuman P., Hadjinicolaou, Andreas V., Nisar, Muhammad K., Ruddlesden, Michael, Furlong, Anita, Baker, Sharon, Hall, Frances C., Raut-Roy, Dominique, Peluso, Rosario, Dario Di Minno, M. N., Iervolino, Salvatore, Costa, Luisa, Atteno, Mariangela, Lofrano, Mariana, Soscia, Ernesto, Castiglione, Fabiana, Foglia, Francesca, Scarpa, Raffaele, Wallis, Dinny, Dougados, Maxime, Keystone, Edward, Heckaman, Michele, Mease, Philip, Landewé, Robert, Nguyen, Dianne, Winfield, Rachel A., Dyke, Claire, Clemence, Mark, Mackay, Kirsten, Haywood, Kirstie L., Packham, Jon, Jordan, Kelvin P., Davies, Helen, Brophy, Sinead, Irvine, Elizabeth, Cooksey, Roxanne, Dennis, Michael S., Siebert, Stefan, Ibrahim, Fowzia, Krueger, Gerald, Gathany, Tim, Mudivarthy, Surekha, Mack, Michael, Tandon, Neeta, Sieper, Joachim, Braun, Jürgen, van der Heijde, Désirée, Isaacs, John, Dahmen, Georg, Wollenhaupt, Jürgen, Schulze-Koops, Hendrik, Gsteiger, Sandro, Bertolino, Arthur, Hueber, Wolfgang, Tak, Paul P., Cohen, Carla J., Karaderi, Tugce, Pointon, Jennifer J., Wordsworth, Bryan P., Keidel, Sarah, Farrar, Claire, Appleton, Louise H., Adshead, Rebecca, Tahir, Hasan, Greenwood, Mandy, Donnelly, Simon P., Wajed, Julekha, and Kirkham, Bruce

Abstract

Background: Foot surgery is common in patients with RA but research into surgical outcomes is limited and conceptually flawed as current outcome measures lack face validity: to date no one has asked patients what is important to them. This study aimed to determine which factors are important to patients when evaluating the success of foot surgery in RA Methods: Semi structured interviews of RA patients who had undergone foot surgery were conducted and transcribed verbatim. Thematic analysis of interviews was conducted to explore issues that were important to patients. Results: 11 RA patients (9 ♂, mean age 59, dis dur = 22yrs, mean of 3 yrs post op) with mixed experiences of foot surgery were interviewed. Patients interpreted outcome in respect to a multitude of factors, frequently positive change in one aspect contrasted with negative opinions about another. Overall, four major themes emerged. Function: Functional ability & participation in valued activities were very important to patients. Walking ability was a key concern but patients interpreted levels of activity in light of other aspects of their disease, reflecting on change in functional ability more than overall level. Positive feelings of improved mobility were often moderated by negative self perception ("I mean, I still walk like a waddling duck”). Appearance: Appearance was important to almost all patients but perhaps the most complex theme of all. Physical appearance, foot shape, and footwear were closely interlinked, yet patients saw these as distinct separate concepts. Patients need to legitimize these feelings was clear and they frequently entered into a defensive repertoire ("it's not cosmetic surgery; it's something that's more important than that, you know?”). Clinician opinion: Surgeons' post operative evaluation of the procedure was very influential. The impact of this appraisal continued to affect patients' lasting impression irrespective of how the outcome compared to their initial goals ("when he'd done it ... he said that hasn't worked as good as he'd wanted to ... but the pain has gone”). Pain: Whilst pain was important to almost all patients, it appeared to be less important than the other themes. Pain was predominately raised when it influenced other themes, such as function; many still felt the need to legitimize their foot pain in order for health professionals to take it seriously ("in the end I went to my GP because it had happened a few times and I went to an orthopaedic surgeon who was quite dismissive of it, it was like what are you complaining about”). Conclusions: Patients interpret the outcome of foot surgery using a multitude of interrelated factors, particularly functional ability, appearance and surgeons' appraisal of the procedure. While pain was often noted, this appeared less important than other factors in the overall outcome of the surgery. Future research into foot surgery should incorporate the complexity of how patients determine their outcome Disclosure statement: All authors have declared no conflicts of interest

Published
2017

3. Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Author

Mehta, Puja, Holder, Susan, Fisher, Benjamin, Vincent, Tonia, Nadesalingam, Kavitha, Maciver, Helen, Shingler, Wendy, Bakshi, Jyoti, Hassan, Sadon, D'Cruz, David, Chan, Antoni, Litwic, Anna E., McCrae, Fiona, Seth, Rakhi, Nandagudi, Anupama, Jury, Elizabeth, Isenberg, David, Karjigi, Uma, Paul, Anupam, Rees, Frances, O'Dowd, Emma, Kinnear, William, Johnson, Simon, Lanyon, Peter, Stevens, Richard, Narayan, Nehal, Marguerie, Christopher, Robinson, Helena, Ffolkes, Lorrette, Worsnop, Fiona, Ostlere, Lucy, Kiely, Patrick, Dharmapalaiah, Chethana, Hassan, Nada, Bharadwaj, Anurag, Skibinska, Malgorzata, Gendi, Nagui, Davies, Emma J., Akil, Mohammed, Kilding, Rachael, Ramachandran Nair, Jagdish, Walsh, Maeve, Farrar, Wendy, Thompson, Robert N., Borukhson, Liubov, McFadyen, Charles, Singh, Deepwant, Rajagopal, Vivek, Chan, Angela Marie L., Wearn Koh, Li, Christie, Jennifer D., Croot, Lorraine, Gayed, Mary, Disney, Benjamin, Singhal, Saket, Grindulis, Karl, Reynolds, Timothy D., Conway, Katie, Williams, Debbie, Quin, John, Dean, Gillian, Churchill, Duncan, Walker-Bone, Karen E., Goff, Iain, Reynolds, Gary, Grove, Matthew, Patel, Priya, Lazarus, Mark N., Roncaroli, Frederico, Gabriel, Carolyn, Kinderlerer, Anne R., Nikiphorou, Elena, Hall, Frances C., Bruce, Ellen, Gray, Leanne, Krutikov, Maria, Wig, Surabhi, Bruce, Ian, D'Agostino, Maria A., Wakefield, Richard, Berner Hammer, Hilde, Vittecoq, Olivier, Galeazzi, Mauro, Balint, Peter, Filippucci, Emilio, Moller, Ingrid, Iagnocco, Annamaria, Naredo, Esperanza, Ostergaard, Mikkel, Gaillez, Corine, Kerselaers, Wendy, Van Holder, Karina, Le Bars, Manuela, Stone, Millicent A., Williams, Francis, Wolber, Lisa, Karppinen, Jaro, Maatta, Juhani, Thompson, Ben, Atchia, Ismael, Lorenzi, Alice, Raftery, Graham, Platt, Phil, Platt, Philip N., Pratt, Arthur, Turmezei, Thomas D., Treece, Graham M., Gee, Andrew H., Poole, Kenneth E., Chandratre, Priyanka N., Roddy, Edward, Clarson, Lorna, Richardson, Jane, Hider, Samantha, Mallen, Christian, Lieberman, Abigail, Prouse, Peter J., Mahendran, Prini, Samarawickrama, Amanda, Ottery, Faith D., Yood, Robert, Wolfson, Marsha, Ang, Andrea, Riches, Philip, Thomson, Janet, Nuki, George, Humphreys, Jennifer, Verstappen, Suzanne M., Chipping, Jacqueline, Hyrich, Kimme, Marshall, Tarnya, Symmons, Deborah P., Roy, Matthew, Kirwan, John R., Marshall, Robert W., Matcham, Faith, Scott, Ian C., Rayner, Lauren, Hotopf, Matthew, Kingsley, Gabrielle H., Scott, David L., Steer, Sophia, Ma, Margaret H., Dahanayake, Chanaka, Kingsley, Gabrielle, Cope, Andrew, Wernham, Aaron, Ward, Lorna, Carruthers, David, Deeming, Alison, Buckley, Christopher, Raza, Karim, De Pablo, Paola, Carpenter, Lewis, Jayakumar, Keeranur, Solymossy, Csilla, Dixey, Josh, Young, Adam, Singh, Animesh, Penn, Henry, Ellerby, Nicholas, Mattey, Derek L., Packham, Jonathan, Dawes, Peter, Hider, Samantha L., Ng, Nora, Humby, Frances, Bombardieri, Michele, Kelly, Stephen, Di Cicco, Maria, Dadoun, Sabrina, Hands, Rebecca, Rocher, Vidalba, Kidd, Bruce, Pyne, Dev, Pitzalis, Costantino, Poore, Sophie, Hutchinson, David, Low, Audrey, Lunt, Mark, Mercer, Louise, Galloway, James, Davies, Rebecca, Watson, Kath, Dixon, Will, Symmons, Deborah, Watson, Kath D., Dixon, William G., Hyrich, Kimme L., Malik, Saadia P., Kelly, Clive, Hamilton, Jennifer, Heycock, Carol, Saravanan, Vadivelu, Rynne, Martin, Harris, Helen E., Tweedie, Fiona, Skaparis, Yiannis, White, Marie, Scott, Nicola, Samson, Kay, Mercieca, Cecilia, Clarke, Shane, Warner, Alexander J., Verstappen, Suzanne, Chan, Esther, Woodhead, Felix A., Nisar, Mohamed, Arthanari, S., Dawson, Julie, Sathi, Nav, Ahmad, Yasmeen, Koduri, Gouri, Cumming, Jo, Stannett, Peter, Hull, Richard, Metsios, George, Stavropoulos Kalinoglou, Antonios, Veldhuijzen van Zanten, Jet J., Nightingale, Peter, Koutedakis, Yiannis, Kitas, George D., Williams, Peter, Walsh, David, Perry, Elizabeth, de-Soyza, Anthony, Moullaali, Thomas, Eggleton, Paul, Stavropoulos-Kalinoglou, Antonios, Sandoo, Aamer, de Pablo, Paola, Maggs, Fiona, Faizal, Abdul, Pugh, Mark, Jobanputra, Paresh, Kehoe, Oksana, Cartwright, Alison, Askari, Ayman, El Haj, Alicia, Middleton, Jim, Aynsley, Sarah, Hardy, Jacob, Veale, Douglas, Fearon, Ursula, Wilson, Gerry, Muthana, Munitta, Fossati, G., Healy, L., Nesbitt, A., Becerra, Elena, Leandro, Maria J., De La Torre, Inmaculada, Cambridge, Geraldine, Nelson, P. N., Roden, D., Shaw, M., Davari Ejtehadi, Hora, Nevill, A., Freimanis, G., Hooley, P., Bowman, S., Alavi, A., Axford, J., Veitch, A. M., Tugnet, N., Rylance, P. B., Hawtree, Sarah, Mark Wilkinson, J., Wilson, Anthony G., Woon Kam, Ngar, Filter, Andrew, Croft, Adam P., Naylor, Amy, Zimmermann, Birgit, Hardie, Debbie, Desanti, Guillaume, Jaurez, Maria, Muller-Ladner, Ulf, Filer, Andrew, Neumann, Elena, Movahedi, Mohammad, Ray, David W., Burmester, Gerd R., Matucci-Cerinic, Marco, Navarro-Blasco, Francisco, Kary, Sonja, Unnebrink, Kristina, Kupper, Hartmut, Mukherjee, Sandeep, Cornell, Patricia, Richards, Selwyn, Rahmeh, Fouz, Thompson, Paul W., Westlake, Sarah L., Javaid, Muhammad K., Batra, Rajbir, Chana, Jasroop, Round, Gemma, Judge, Andrew, Taylor, Peter, Patel, Sanjeev, Cooper, Cyrus, Ravindran, Vinod, Bingham, Clifton O., Weinblatt, Michael E., Mendelsohn, Alan, Kim, Lilianne, Mack, Michael, Lu, Jiandong, Baker, Daniel, Westhovens, Rene, Hewitt, Jamie, Han, Chenglong, Keystone, Edward C., Fleischmann, Roy, Smolen, Josef, Emery, Paul, Genovese, Mark, Doyle, Mittie, Hsia, Elizabeth C., Hart, Jennifer C., Harland, Dave, Gibbons, Carl, Pang, Hok, Huertas, Catherine, Diamantopoulos, Alex, Dejonckheere, Fred, Clowse, M., Wolf, D., Stach, C., Kosutic, G., Williams, S., Terpstra, I., Mahadevan, U., Ferraccioli, G., Samborski, W., Berenbaum, F., Davies, O., Koetse, W., Bennett, B., Burkhardt, H., Luijtens, K., van der Heijde, Desiree, Mariette, X., van Vollenhoven, Ronald F., Bykerk, V., de Longueville, M., Arendt, C., Cush, J., Khan, Afsha, Maclaren, Zoe, Dubash, Sayam, Chalam, Venkat C., Sheeran, Tom, Price, Tom, Baskar, Sangeetha, Mulherin, Diarmuid, Molloy, Cauline, Keay, Fiona, Heritage, Caroline, Douglas, Barbara, Schiff, Michael H., Khanna, Dinesh, Furst, Daniel E., Maldonado, Michael A., Li, Wanying, Sasso, Eric H., Emerling, Daniel, Cavet, Guy, Ford, Kerri, Mackenzie-Green, Bronwen, Collins, David, Price, Elizabeth, Williamson, Lyn, Golla, Janardhana, Vagadia, Vipul, Morrison, Elaine, Tierney, Ann, Wilson, Hilary, Hunter, John, Reddy, Venkat, Moore, Samantha, Ehrenstein, Michael, Benson, Claire, Wray, Maria, Cairns, Andrew, Wright, Gary, Pendleton, Adrian, McHenry, Michelle, Taggart, Allister, Bell, Aubrey, Bosworth, Ailsa, Cox, Maureen, Johnston, Graeme, Shah, Preeti, O'Brien, Anne, Jones, Peter, Sargeant, Ify, Bukhari, Marwan, Nusslein, Hubert, Alten, Rieke, Lorenz, Hannes M., Boumpas, Dimitrios, Nurmohamed, Michael T., Bensen, William, Peter, Hans-Hartmut, Rainer, Franz, Pavelka, Karel, Chartier, Melanie, Poncet, Coralie, Rauch, Christiane, Lempp, Heidi, Hofmann, Darija, Adu, Aderonke, Congreve, Carron, Dobson, Joanne, Rose, Diana, Simpson, Carol, Wykes, Til, Ibrahim, Fowzia, Schiff, Michael, Nash, Peter, Durez, Patrick, Kaine, Jeffrey, Delaet, Ingrid, Kelly, Sheila, Maldonado, Michael, Patel, Salil, Jones, Graeme, Sebba, Anthony, Lepley, Denise, Devenport, Jenny, Bernasconi, Corrado, Smart, Devi, Mpofu, Chiedzo, Gomez-Reino, Juan J., Verma, Inderjeet, Kaur, Jaspreet, Syngle, Ashit, Krishan, Pawan, Vohra, Kanchan, Kaur, Ladbans, Garg, Nidhi, Chhabara, Monica, Gibson, Kellie, Woodburn, James, Telfer, Scott, Buckley, Felicity, Finckh, Axel, Huizinga, Tom W., Jansen, Jeroen P., Rubbert-Roth, Andrea, Scali, Juan J., Kremer, Joel M., Pitts, Laura, Vernon, Emma, Sharif, Mohammed I., Das, Sudipto, Helliwell, Philip, Sokoll, Katharina, and Vital, Edward M.

Subjects
cardiovascular system
Abstract

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interest

Published
2017

4. INEX'03 guidelines for topic development

Author

Kazai, Gabriella, Lalmas, Mounia, Malik, Saadia, and Second INEX Workshop - INEX 2003. December 15-17, 2003, Schloss Dagstuhl, Germany

Subjects
ddc:0, Externe » Sonstige Einrichtungen, ddc:004
Published
2014

5. HyREX at INEX 2003

Author

Abolhassani, Mohammad, Fuhr, Norbert, Malik, Saadia, and Second INEX Workshop - INEX 2003. December 15-17, 2003, Schloss Dagstuhl, Germany

Subjects
Informatik, ddc:0, InformationSystems_INFORMATIONSTORAGEANDRETRIEVAL, ddc:004, Fakultät für Ingenieurwissenschaften » Informatik und Angewandte Kognitionswissenschaft
Abstract

In this paper, we describe two new approaches for processing INEX queries. For CO queries, we adopt Amati’s divergence from randomness approach (aka language model) and extend it by an additional factor for considering the hierarchical level of the element to be retrieved. For CAS queries, we investigate several mappings from INEX queries to our query language XIRQL, where we tried to introduce different degrees of vagueness. Both approaches yield good retrieval results, but still leave room for improvement.

Published
2014

6. Interactive Information Retrieval with Structured Documents

Author

Malik, Saadia, Fuhr, Norbert, and Fuhr, Norbert (Akademische Betreuung)

Subjects
Informatik, INEX iTrack, Interactive retrieval, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, ddc:004, Fakultät für Ingenieurwissenschaften » Informatik und Angewandte Kognitionswissenschaft, structured documents
Abstract

Duisburg-Essen, Univ., Diss. 2009 In recent years there has been a growing realisation in the IR community that the interaction of searchers with information is an indispensable component of the IR process. As a result, issues relating to interactive IR have been extensively investigated in the last decade. This research has been performed in the context of unstructured documents or in the context of the loosely-defined structure encountered in web pages. XML documents, on the other hand, define a different context, by offering the possibility of navigating within the structure of a single document, or of following links to other documents. Relatively little work has been carried out to study user interaction with IR systems that make use of the additional features offered by XML documents. As part of the INEX initiative for the evaluation of XML retrieval, the INEX interactive track has focused on interactive XML retrieval since 2004. Here user friendly exposition to various features of XML documents is provided and some new features are designed and implemented to enable searchers to have access to their desired information in an efficient manner. In this study interaction entails three levels: query formulation, inspecting result list, and examining the detail. For query formulation, suggesting related terms is a conventional method to assist searchers. Here we investigate the related terms derived from two different co-occurrence units: elements and documents. In addition, contextual aspect is added to facilitate the searchers for appropriate selection of terms. Results showed the usefulness of suggesting related terms and some what acceptance of the contextual related tool. For inspecting the result list, classic document retrieval systems such as web search engines retrieve whole documents, and leave it to the searchers to collect their required information from possibly a lengthy text. In contrast, element retrieval aims at a focused view of information by pointing to the optimal access points of the document. A number of strategies have been investigated for presenting result lists. For examining the detail of a document, traditionally the complete document is presented to a searcher and here again the searcher has to put in effort to reach its required information. We investigated the use of additional support such as a table of contents along with document detail. In addition, we also investigated graphical representations of documents depicting its structure and granularity of retrieved elements along with their estimated relevance. Here the table of contents was found to be a very useful features for examining details. In order to conduct the analysis of searcher's interaction, a visualisation technique based on Tree Map was developed. It depicts the search interaction with element retrieval system. A number of browsing strategies has been identified with the help of this tool. The value of element retrieval for searchers and comparison between two focused approaches such as element and passage retrieval system was also evaluated. The study suggests that searchers find elements useful for their tasks and they locate a lot of the relevant information in specific elements rather than full documents. Sections, in particular, appear to be helpful. In order to provide user-specific support, the system needs feedback from searchers, who in turn, are very reluctant to give this information explicitly. Therefore, we investigated to what extent the different features can be used as relevance predictors. Of the five features regarded, primarily the reading time is a useful relevance predictor. Overall, relevance predictors for structured documents seem to be much weaker than for the case of atomic documents.

Published
2010

7. The Utrecht Blend: Basic Ingredients for an XML Retrieval System

Author

van Zwol, R., Dignum, M.V., Wiering, F., Fuhr, Norbert, Lalmas, Mounia, Malik, Saadia, Szlavik, Zoltan, Cognitieve en Communicatieve Aspecten van Informatietechnologie en Informatiesystemen, Electronische Document Technologie en Informatiesystemen, and Dep Informatica

Published
2004

8. The Utrecht Blend: Basic Ingredients for an XML Retrieval System

Author

van Zwol, R., Dignum, M.V., Wiering, F., Fuhr, Norbert, Lalmas, Mounia, Malik, Saadia, Szlavik, Zoltan, Cognitieve en Communicatieve Aspecten van Informatietechnologie en Informatiesystemen, Electronische Document Technologie en Informatiesystemen, and Dep Informatica

Subjects
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Published
2004

9. TIJAH at INEX 2004 modeling phrases and relevance feedback

Author

Mihajlovic, Vojkan, Ramirez, Georgina, de Vries, Arjen P., Hiemstra, Djoerd, Blok, Henk Ernst, Fuhr, Norbert, Lalmas, Mounia, Malik, Saadia, Szlavik, Zoltán, and Databases (Former)

Subjects
IR-63515, Information retrieval, Computer science, Relevance Feedback, Relevance feedback, Phrase search, Query language, Numbering, Retrieval Model, EWI-7296, Numbering scheme, Query Plan, Logical Level, Physical Level, DB-XMLIR: XML INFORMATION RETRIEVAL, Relevance (information retrieval), Data architecture, Rewriting, METIS-225857
Abstract

This paper discusses our participation in INEX using the TIJAH XML-IR system. We have enriched the TIJAH system, which follows a standard layered database architecture, with several new features. An extensible conceptual level processing unit has been added to the system. The algebra on the logical level and the implementation on the physical level have been extended to support phrase search and structural relevance feedback. The conceptual processing unit is capable of rewriting NEXI content-only and content-and-structure queries into the internal form, based on the retrieval model parameter specification, that is either predefined or based on relevance feedback. Relevance feedback parameters are produced based on the data fusion of result element score values and sizes, and relevance assessments. The introduction of new operators supporting phrase search in score region algebra on the logical level is discussed in the paper, as well as their implementation on the physical level using the pre-post numbering scheme. The framework for structural relevance feedback is also explained in the paper. We conclude with a preliminary analysis of the system performance based on INEX 2004 runs.

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