Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Astor, Rodrigues"'
Publikováno v:
Medicina, Vol 60, Iss 10, p 1650 (2024)
Coeliac disease (CD) affects almost of 1% of the population, yet remains undiagnosed in the majority. Though the demonstration of enteropathy in duodenal biopsy was traditionally the essential criterion for the diagnosis of coeliac disease, the guide
Externí odkaz:
https://doaj.org/article/3e6c7af49d004530ad1b11e5daaa3665
Autor:
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 10 (2022)
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic vari
Externí odkaz:
https://doaj.org/article/6503ecabc11443e384dfca9f5f76d443
Autor:
Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Mohammad Karaminejadranjbar, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribut
Externí odkaz:
https://doaj.org/article/2613668b99c441b1b30bfa2765e3a533
Autor:
Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M Carrami, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/5c86d325bfef42dd9f9c9aa2ea68a8c9
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 59, Iss , Pp 101507- (2020)
Rapunzel syndrome is a rare presentation of trichobezoar and always occurs in patients who have a preceding history of trichophagia with or without trichotillomania. These patients are mostly female and present acutely with abdominal pain and vomitin
Externí odkaz:
https://doaj.org/article/b39a0ccde34d41eeabd87517fde3a9bd
Autor:
Mary Anne Preece, Meranthi Fernando, Saikat Santra, Suresh Vijay, Rachel M. Brown, Astor Rodrigues, Girish Gupte
Publikováno v:
Euroasian Journal of Hepato-Gastroenterology
Background Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We
Autor:
Nicholas A Kennedy, Graham A Heap, Harry D Green, Benjamin Hamilton, Claire Bewshea, Gareth J Walker, Amanda Thomas, Rachel Nice, Mandy H Perry, Sonia Bouri, Neil Chanchlani, Neel M Heerasing, Peter Hendy, Simeng Lin, Daniel R Gaya, J R Fraser Cummings, Christian P Selinger, Charlie W Lees, Ailsa L Hart, Miles Parkes, Shaji Sebastian, John C Mansfield, Peter M Irving, James Lindsay, Richard K Russell, Timothy J McDonald, Dermot McGovern, James R Goodhand, Tariq Ahmad, Vinod Patel, Zia Mazhar, Rebecca Saich, Ben Colleypriest, Tony C Tham, Tariq H Iqbal, Vishal Kaushik, Senthil Murugesan, Salil Singh, Sean Weaver, Cathryn Preston, Assad Butt, Melissa Smith, Dharamveer Basude, Amanda Beale, Sarah Langlands, Natalie Direkze, Franco Torrente, Juan De La Revella Negro, Chris Ewen MacDonald, Stephen M Evans, Anton V J Gunasekera, Alka Thakur, David Elphick, Achuth Shenoy, Chuka U Nwokolo, Anjan Dhar, Andrew T Cole, Anurag Agrawal, Stephen Bridger, Julie Doherty, Sheldon C Cooper, Shanika de Silva, Craig Mowat, Phillip Mayhead, Charlie Lees, Gareth Jones, James W Hart, Lisa Gervais, Paul Dunckley, Tariq Mahmood, Paul J R Banim, Sunil Sonwalkar, Deb Ghosh, Rosemary H Phillips, Amer Azaz, Richard Shenderey, Lawrence Armstrong, Claire Bell, Radhakrishnan Hariraj, Helen Matthews, Hasnain Jafferbhoy, Veena Zamvar, John S De Caestecker, Anne Willmott, Richard Miller, Palani Sathish Babu, Christos Tzivinikos, Stuart L Bloom, Guy Chung-Faye, Nicholas M Croft, John ME Fell, Marcus Harbord, Ailsa Hart, Ben Hope, James O Lindsay, Joel E Mawdsley, Alistair McNair, Kevin J Monahan, Charles D Murray, Timothy Orchard, Thankam Paul, Richard Pollok, Neil Shah, Matt W Johnson, Anita Modi, Kasamu Dawa Kabiru, B K Baburajan, Bim Bhaduri, Andrew Adebayo Fagbemi, Scott Levison, Jimmy K Limdi, Gill Watts, Stephen Foley, Arvind Ramadas, George MacFaul, John Mansfield, Leonie Grellier, Mary-Anne Morris, Mark Tremelling, Chris Hawkey, Sian Kirkham, Charles PJ Charlton, Astor Rodrigues, Alison Simmons, Stephen J Lewis, Jonathon Snook, Mark Tighe, Patrick M Goggin, Aminda N De Silva, Simon Lal, Mark S Smith, Simon Panter, Suranga Dharmisari, Martyn Carter, David Watts, Zahid Mahmood, Bruce McLain, Sandip Sen, Anna J Pigott, David Hobday, Emma Wesley, Richard Johnston, Cathryn Edwards, John Beckly, Deven Vani, Subramaniam Ramakrishnan, Rakesh Chaudhary, Nigel J Trudgill, Rachel Cooney, Andy Bell, Neeraj Prasad, John N Gordon, Matthew J Brookes, Andy Li, Stephen Gore
Publikováno v:
The Lancet Gastroenterology & Hepatology. 4:341-353
BACKGROUND: Anti-TNF drugs are effective treatments for the management of Crohn's disease but treatment failure is common. We aimed to identify clinical and pharmacokinetic factors that predict primary non-response at week 14 after starting treatment
Autor:
Bruce George, Maryam Haghighat, Alessandra Geremia, Lucy Howarth, Fiona Powrie, Holm H. Uhlig, James E. East, E Barnes, Jane Collier, Sharib Ali, Paul Klenerman, Alissa Walsh, Kelsey D. J. Jones, Elizabeth L. Bird-Lieberman, Stephen Ash, Astor Rodrigues, Simon J. Leedham, Alison Simmons, Xin Lu, Carolina V Arancibia-Cárcamo, Philip Allan, Jan Bornschein, Simon Travis, Barbara Braden, Tim Ambrose, Rebecca Palmer, Jack Satsangi, Emma L. Culver, Adam A. Bailey, Jens Rittscher, Oliver Brain
Background & Aims Barrett’s epithelium measurement using widely accepted Prague C&M classification is highly operator dependent. We propose a novel methodology for measuring this risk score automatically. The method also enables quantification of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b291d23a0a869f1e0a4372d245196ea
https://doi.org/10.1053/j.gastro.2021.05.059
https://doi.org/10.1053/j.gastro.2021.05.059
Autor:
Astor Rodrigues, Girish Gupte, Christopher Bakewell, Geetha Anand, Rachel Williams, Kavinda Dayasiri
Publikováno v:
Poster presentations.
Background The lipodystrophies are an extremely rare group of metabolic conditions. In acquired partial lipodystrophy (APL), the predominant clinical feature is a progressive, symmetrical reduction of adipose tissue which typically begins during the
Autor:
Ritva Koskela, Jennifer Hollis, Frank M. Ruemmele, Giuseppe Castaldo, Lorenzo Norsa, Giusi Grimaldi, Emeline Bequet, Peter Heinz-Erian, Holm H. Uhlig, Saara Leskinen, Remi Duclaux-Loras, Simon Travis, Alain Lachaux, Roberto Berni Canani, Kaija-Leena Kolho, Astor Rodrigues, Lukasz Dembinski, Jaques Deflandre, Neil Shah, Richard K. Russell, Andreas R. Janecke, Satu Wedenoja, Jutta Köglmeier, Sibylle Koletzko
Publikováno v:
Journal of Crohn'scolitis. 15(10)
Background Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel di