A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Autor: Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)

Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing bo

Externí odkaz: https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393

Mpox: Fifty-Nine Consecutive Cases from a Mexican Public Hospital; Just the Tip of the STIs Iceberg

Autor: Esteban González-Díaz, Christian E. Rodríguez-Lugo, Sergio Quintero-Luce, Sergio Esparza-Ahumada, Héctor Raúl Pérez-Gómez, Rayo Morfín-Otero, Marina de Jesus Kasten-Monges, Sara A. Aguirre-Díaz, Marisela Vázquez-León, Eduardo Rodríguez-Noriega

Publikováno v: Infectious Disease Reports, Vol 15, Iss 3, Pp 319-326 (2023)

Monkeypox (Mpox) is a zoonotic viral infection endemic to Africa, which has caused a global outbreak since April 2022. The global Mpox outbreak is related to Clade IIb. The disease has primarily affected men who have sex with men. Skin lesions are co

Externí odkaz: https://doaj.org/article/16d40ceaf6c04583a2234d68693a6a66

Threatened conservation scientists: The aftermath of an eye-opening publication on rewilding

Autor: Guerisoli, María de las Mercedes, Schiaffini, Mauro I., Teta, Pablo, Valenzuela, Alejandro E.J., Mirol, Patricia, Nori, Javier, Defossé, Guillermo E., Godoy, María Marcela, Krieger, Pablo, Withington, Tomás, Agostini, María G., Anderson, Christopher B., Anello, Melina, Argoitia, M. Antonella, Arzamendia, Yanina, Baigorria, Julián E.M., Baldo, Diego, Baldo, Jorge L., Balza, Ulises, Barbe, Ian, Barrasso, Diego A., Barri, Fernando R., Barrios-Garcia, M. Noelia, Bartolucci, Cristina, Bastida, Ricardo O., Bauer, Gabriel, Berrozpe, Pablo, Bó, Roberto F., Campo, Denise H., Carmanchahi, Pablo, Caruso, Flavia, Chalukian, Silvia C., Chatellenaz, Mario L., Chemisquy, M. Amelia, Cosse, Mariana, Cuyckens, Griet A.E., D'Agostino, Romina L., D'Agostino, Valeria C., Deferrari, Guillermo, Degrati, Mariana, del Valle Ferreyra, Hebe, Derlindati, Enrique J., Di Cataldo, Sophia, Di Rocco, Florencia, Durante, Cristian A., Eder, Elena B., Esquenazi, Sofía M., Ezquiaga, María C., Faivovich, Julián, Fernández, Fernando J., Ferreyra, Nicolás, Lacoste, Francisco Firpo, Flores, David, Formoso, Anahí E., Gómez Fernández, María J., González, Baltazar, González, Enrique M., González, Susana, Guerrero, José C., Juan, Ernesto E., Kowalewski, Martín, Laitán, María G., Lanzone, Cecilia, Laufer, Gabriel, Leizagoyen, Carmen, Leonardi, María S., Loizaga, Rocío, Martin, Gabriel M., Massaccesi, Guillermina, Mignino, Julián, Miotti, María D., Moschione, Flavio N., Mosti, Patricia A., Muzzachiodi, Norberto, Novillo, Agustina, Ojeda, Agustina A., Oklander, Luciana I., Orozco, María M., Ovejero, Ramiro, Palmerio, Andrés G., Paso Viola, María N., Pastore, Hernán, Paszko, Lorena M., Pérez Carusi, Lorena C., Perovic, Pablo G., Perretta, Alejandro, Pozzi, Carla M., Relva, María A., Reppucci, Juan I., Robino, Facundo, Rodríguez-Cabal, Mariano A., Rodríguez-Planes, Lucía I., Roesler, Ignacio, Rossi, Luis F., Segura, Valentina, Sillero-Zubiri, Claudio, Sittoni, Florencia, Tálamo, Andrés, Torres Monges, Julio C., Travaini, Alejandro, Túnez, Juan I., Udrizar Sauthier, Daniel E., Uhart, Marcela M., Urquizo, José H., Wiemeyer, Guillermo M., Wolfenson, Laura I., Ojeda, Ricardo

Publikováno v: In Biological Conservation November 2023 287

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Autor: Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero

Publikováno v: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)

Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course

Externí odkaz: https://doaj.org/article/aa0b0640d52441babc07367bace6ddce