Results 81 to 90 of about 48,192 (208)
International 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 sourceAbnormal ECG Findings in Athletes: Clinical Evaluation and Considerations. [PDF]
, 2019 PURPOSE OF REVIEW: Pre-participation cardiovascular evaluation with electrocardiography is normal practice for most sporting bodies. Awareness about sudden cardiac death in athletes and recognizing how screening can help identify vulnerable athletes have A Biffi, A Biffi, A D’Silva, A D’Silva, A Magalski, A Malhotra, A Malhotra, A Malhotra, A Merghani, A Morshedi-Meibodi, A Pelliccia, A Pelliccia, A Zaidi, A Zaidi, A Zorzi, A Zorzi, A Zorzi, AD Desai, AL Aro, AL Rao, AO Usoro, BJ Maron, BJ Maron, C Antzelevitch, C Calore, C Daubert, C Miles, D Corrado, D Corrado, D Corrado, D Corrado, F D’Ascenzi, F Migliore, F Schnell, FI Marcus, G Finocchiaro, G Malfatto, G Mcclean, GJ Klein, GJ Klein, H Dhutia, H Morita, HUH Virk, J Basu, J Ehtisham, J Marek, J Novak, J Pei, J Steinfurt, JA Drezner, JA Drezner, KG Harmon, KM Park, L Calò, L Verdile, M Brosnan, M Papadakis, M Papadakis, M Sadron Blaye-Felice, MAE Haukilahti, Mark Abela, MG Wilson, MI Cohen, MJ Ackerman, MJ Brosnan, N Chandra, N Panhuyzen-goedkoop, N Sheikh, P Banankhah, PG Postema, PT Matusik, RE Bent, RE Eckart, S Gati, S Kapa, S Masrur, S Peters, S Sharma, S Viskin, Sanjay Sharma, SEE Page, T Senturk, X Li, YH Lee +83 morecore +1 more sourceA muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies
Brain Pathology, EarlyView.Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos +17 morewiley +1 more sourceCongenital Myopathy in Lowe Syndrome
Pediatric Neurology Briefs, 1990 Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...J Gordon Millichapdoaj +1 more sourceA distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]
, 2013 Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...Cleary, MA, Lindley, KJ, Rahman, S, Shahni, R, Sibson, KR, Wedatilake, Y +5 morecore +1 more sourceNovel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review
British Journal of Pharmacology, EarlyView.Abstract
In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy +16 morewiley +1 more sourceCongenital X-Linked Autophagic Vacuolar Myopathy
Pediatric Neurology Briefs, 2005 A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affecting 7 boys is reported from the National Center of Neurology and Psychiatry, Kodaira, Tokyo, and Utano National Hospital, Kyoto, Japan; and Shandong ...J Gordon Millichapdoaj +1 more sourceInvestigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]
, 2017 BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...Aleman, M, Finno, CJ, Penedo, MCT, Weich, K +3 morecore +1 more sourceRetinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent +11 morewiley +1 more sourceTesting of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson +5 moredoaj +1 more source
