Case Reports * 1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGF  Receptor Mutations in Benign Joint Hypermobility

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

doi:10.1093/rheumatology/ket197

Rheumatology

2013

DOI: 10.1093/rheumatology/ket197

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Case Reports * 1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGF Receptor Mutations in Benign Joint Hypermobility

Puja Mehta¹,

Susan Holder²,

Benjamin K. Fisher³

et al.

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2024

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Efficacy of Rituximab on Refractory Organ Involvements in Granulomatosis with Polyangiitis: A Systematic Review of Case Reports

Hajishah,

Amini,

Chadeganipour

et al. 2024

CRR

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Introduction: Granulomatosis with polyangiitis (GPA) is a type of Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) characterized by necrotizing vasculitis affecting small and medium-sized blood vessels. GPA affects various organs, with respiratory tract, vasculitis and glomerulonephritis being the most common triad. Remission induction and maintenance therapy for GPA traditionally involves corticosteroids and cyclophosphamide. However, treatment with rituximab, a monoclonal antibody that depletes B-cells involved in autoimmune disease, has been successful in inducing remission in several studies. The purpose of this systematic review was to investigate the efficacy of rituximab in treating various clinical manifestations of GPA. Methods: In adherence to PRISMA guidelines for systematic reviews and meta-analyses, we carried out a comprehensive review to investigate the effectiveness of rituximab on particular organ involvement in GPA. We searched three databases (PubMed, Scopus, and Embase) up until November 6, 2022, for case reports on the topic. To ensure all relevant studies were included, we manually screened the first 50 pages of Google Scholar's search results. Results: The review identified a total of 64 case reports and a case series of 113 cases, highlighting the effectiveness of rituximab in treating refractory organ involvement in GPA. The review also analyzed the effectiveness of rituximab in treating ocular, CNS, cardiac, pulmonary, cutaneous, gastrointestinal, renal, and other organ involvements in GPA. Conclusions: Our results indicated that rituximab can be a promising therapy for treating specific clinical manifestations of several organ involvements. However, more research is needed to determine the long-term efficacy of rituximab in treating GPA.

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Efficacy of Rituximab on Refractory Organ Involvements in Granulomatosis with Polyangiitis: A Systematic Review of Case Reports

Hajishah,

Amini,

Chadeganipour

et al. 2024

CRR

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show abstract

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Case Reports * 1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGF Receptor Mutations in Benign Joint Hypermobility

Cited by 1 publication

References 2 publications

Efficacy of Rituximab on Refractory Organ Involvements in Granulomatosis with Polyangiitis: A Systematic Review of Case Reports

Efficacy of Rituximab on Refractory Organ Involvements in Granulomatosis with Polyangiitis: A Systematic Review of Case Reports

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