Results 31 to 40 of about 6,259 (153)
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto +8 morewiley +1 more sourceInternational Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema
Allergy, EarlyView.ABSTRACT
Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.Henriette Farkas, Inmaculada Martinez‐Saguer, Konrad Bork, Anastasios E. Germenis, Anete S. Grumach, Hanga Réka Horváth, Andrea Luczay, Andrea Zanichelli, Markus Magerl, Stephen Betschel, Emel Aygören‐Pürsün, Jonathan A. Bernstein, Isabelle Boccon‐Gibod, Teresa Caballero, Mauro Cancian, Sandra Christiansen, Danny M. Cohn, Francisco Contreras, Sansanee Craig, Camelia Isaic, Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, the Hereditary Angioedema Working Group (HAWK Group), Adil Adatia, Fiorella Adrianzen, Shimalee Andarawewa, Sladjana Andrejevic, Gabriel Emmanuel Arce‐Estrada, Ecem Ay, Adil Bahadir, Noemi Anna Bara, Marko Barešić, Krasimira Baynova, Shira Benor, Juliette Besson, Dharmagat Bhattarai, Patricia Bigas, Alexis Bocquet, Laurence Bouillet, Nicholas Brodszki, Thomas Buttgereit, Rosario Cabañas, Regis Campos, Asuman Çamyar, Orlane Chol, Stefan Cimbollek, Monica Colque Bayona, Cascia Day, Mats de Lange, Alex Fam, Davide Firinu, Tomas Freiberger, Johana Gil‐Serrano, Delphine Gobert, Dawn Goodyear, Maria del Mar Guilarte Clavero, Svetlana Hadvabova, David Hagin, Roman Hakl, George Harmat, Mensuda Hasanhodzic, Gocki Jacek, Joshua Jacobs, Rashmi Jain, Milos Jesenak, Amin Kanani, Daniela Kapustová, Boris Karanovic, Paul Keith, Tamar Kinaciyan, Pavlina Kralickova, Marcin Kurowski, Krzysztof Kuziemski, Rolando Laurel‐Laurel, Iris Leibovich‐Nassi, Gabriela Leon Zambrana, Ramon Lleonart, Lorena Lorenzo, Ferhat Maksudov, Ania Manson, Dusanka Markovic, Jayne McGucken, Nihal Mete Gokmen, Radovan Mijanovic, Vania Maria Miranda Saavedra, Irene Modestou, Sandra Nieto, Nora Nilsson, Patrik Nordenfelt, Francesca Perego, Angelica Petraroli, Elsa Phillips‐Angles, Alicia Prieto‐García, Michel Raguet, Marc Riedl, Matija Rijavec, Solange Rodrigues Valle, Yaryna Romanyshyn, Antoine Saut, Riccardo Senter, Branislav Šlenker, Marta Sobotkova, Peter J. Spaeth, Marcin Stobiecki, Linda Sundler Björkman, Mireille‐Maria Suttle, Agnes Szilágyi, Paola Triggianese, Kassiani Tzeli, Martina Vachová, Anna Valerieva, Solange Valle, Lilian Varga, Walter A. Wuillemin, Patrick Yong, Zhi Yuxiang, Liudmyla Zabrodska, Radana Zachova, Julia Zharankova +128 morewiley +1 more sourceThe RhoA guanine exchange factor ABR: a glucose‐sensitive mediator of actin reorganization in feto‐placental arterial endothelial cells altered by gestational diabetes mellitus
The Journal of Physiology, EarlyView.Abstract figure legend Schematic representation of proposed relationship between hyperglycaemia, gestational diabetes mellitus (GDM), active BCR‐related (ABR), RhoA and actin organization of feto‐placental arterial endothelial cells (fpEC). Hyperglycaemia upregulates ABR, which in turn increases RhoA activation.Silvija Tokic, Boris Novakovic, Barbara Leopold‐Posch, Magdalena Mühlberger, Denise Hoch, Jelena Lögl, Eva M. Bernhart, Richard Saffery, Gernot Desoye, Ursula Hiden +9 morewiley +1 more sourcePlatelet-activating factor and hyperacute rejection: The effect of a platelet-activating factor antagonist, sri 63-441, on rejection of xenografts and allografts in sensitized hosts [PDF]
, 1990 The pathogenesis of hyperacute transplantation reactions includes the activation of a cascade of nonspecific inflammatory reactions that precipitates the destruction of the target organ.Chapman, FA, Cramer, DV, Makowka, L, Qian, S, Starz, TE, Sun, H +5 morecore +1 more sourceExpert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi +108 morewiley +1 more sourceApplying refinement to the use of mice and rats in rheumatoid arthritis research [PDF]
, 2015 Rheumatoid arthritis (RA) is a painful, chronic disorder and there is currently an unmet need for effective therapies that will benefit a wide range of patients. The research and development process for therapies and treatments currently involves in vivo A Dinda, A Julià, A Livingston, AL Whittaker, AM Pulichino, B Bolon, BN Gaskill, BN Gaskill, C Kilkenny, C Kilkenny, CA Christianson, CL Karp, CM Sherwin, D Baker, D Pretzel, D Volker, DB Bas, DD Brand, DJ Langford, DS McQueen, E Hutchinson, Elliot Lilley, European Commission, FC Colpaert, FC Colpaert, FC Colpaert, G Kollias, GK Ford, H Smolian, H Yoshitomi, HB Patel, HB Worp van der, HE Krug, J Havey, JL Hurst, JR Earl, K Gouveia, K Ren, Katherine Knight, KM Kokolus, KR Jacobsen, KSP Abelson, L Bevaart, L Carbone, L Moja, LF Mikkelsen, LM Khachigian, M Bara, M Bianchi, M Neidhart, MH Ullman-Culleré, Michael Seed, Michael Wilkinson, MJ Gentle, MJ Molina-Cimadevila, ML Andersen, MW Festing, N Maicas, N Malik, National Research Council, NJ Osborne, P Hawkins, P Honoré, P Loo Van, P McGonigle, Paul Garside, Penny Hawkins, PH Wooley, R McCarthy, Rachel Armstrong, Richard O. Williams, RS Ulrich, S Ribel-Madsen, SA Tischkau, SC Chan, SG Sotocinal, SG Trivedi, SH Richter, T Montero-Melendez, Tania Boden, TL Vincent, V Baumans, V Marashi, V Strand, W Paska, Y Jasemian, Y Peck +86 morecore +2 more sourcesFive‐Minute Apgar Scores and Its Prognostic Value for Mortality and Severe Morbidity in Very Preterm Infants: A Multinational Cohort Study
BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 4, Page 649-659, March 2026.ABSTRACT Objective
To examine associations between a 5‐min Apgar score < 7 and severe neonatal outcomes in very preterm (VPT) infants and how results are impacted by variations in assigning Apgar scores within an international context. Design
Prospective observational population‐based cohort study.Harald Ehrhardt, Soodabeh Behboodi, Rolf F. Maier, Adrien M. Aubert, Ulrika Åden, Elizabeth S. Draper, Anna Gudmundsdottir, Veronica Siljehav, Heili Varendi, Tom Weber, Michael Zemlin, Jennifer Zeitlin, on behalf of the EPICE/SHIPS Research Group, J. Lebeer, P. Van Reempts, E. Bruneel, E. Cloet, A. Oostra, E. Ortibus, I. Sarrechia, K. Boerch, L. Huusom, P. Pedersen, T. Weber, A. Hasselager, L. Toome, H. Varendi, M. Männamaa, P. Y. Ancel, A. Burguet, P. H. Jarreau, V. Pierrat, P. Truffert, R. F. Maier, M. Zemlin, B. Misselwitz, S. Schmidt, L. Wohlers, M. Cuttini, D. Di Lallo, G. Ancora, D. Baronciani, V. Carnielli, I. Croci, G. Faldella, F. Ferrari, F. Franco, G. Gargano, A. van Heijst, C. Koopman‐Esseboom, J. Gadzinowski, J. Mazela, A. Montgomery, T. Pikuła, H. Barros, R. Costa, L. Mendes Graça, M. do Céu Machado, C. Rodrigues, T. Rodrigues, U. Aden, A. K. Edstedt Bonamy, M. Norman, E. S. Draper, E. M. Boyle, A. Fenton, S. J. Johnson, B. N. Manktelow, D. W. A. Milligan, S. Mader, N. Thiele, J. Walz, S. Petrou, J. Zeitlin, M. Bonet, C. Bonnet, R. El Raffei, A. Piedvache, A. V. Seppanen, A. M. Aubert +79 morewiley +1 more sourceEmotional reactivity and cognitive performance in aversively motivated tasks: a comparison between four rat strains [PDF]
, 2009 Background Cognitive function might be affected by the subjects' emotional reactivity. We assessed whether behavior in different tests of emotional reactivity is correlated with performance in aversively motivated learning tasks, using four strains of ...van der Staay, F.J., Schuurman, T., van Reenen, C.G., Korte, S.M., Dierexperimenteel, Emotion and Cognition, Dep Gezondheidszorg Landbouwhuisdieren, Sub BasicPharmacology&Psychopharmacology +7 morecore +2 more sources