Mod Rheumatol Case Rep. 2021 Nov 17;rxab043. doi: 10.1093/mrcr/rxab043. Online ahead of print.
Dermatomyositis- Related Intestinal Dysmotility Christine Loftis 1, Rosa White 1, Emilia C Dulgheru 2
• 1Internal Medicine Department- Doctor Hospital at Renaissance, University of Texas at Rio Grande Valley, Edinburg, USA.
• 2University of Texas at Rio Grande Valley, Rheumatology Institute Doctors Hospital at Renaissance, Edinburg, USA.
• PMID: 34791372
• DOI: 10.1093/mrcr/rxab043
Keywords: dermatomyositis; gastrointestinal bleeding; intestinal dysmotility; myopathy related constipation.
Nutr Clin Pract. 2021 Nov 16. doi: 10.1002/ncp.10800. Online ahead of print.
High-dose vitamin C therapy for symptomatic deficiency in a patient with myasthenia gravis and Crohn's disease
Jill Murphree 1, Diana Wells Mulherin 2, Colleen Morton 3, Dawn Adams 4
• 1Nutrition Services, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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• 2Clinical Pharmacy Specialist, Pharmacy Clinical Programs, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
• 3Division of Hematology and Oncology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
• 4Division of Gastroenterology, Hepatology, and Nutrition, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
• PMID: 34784069
• DOI: 10.1002/ncp.10800
Keywords: Crohn's disease; bleeding; ecchymosis; petechiae; scurvy; vitamin C; vitamin deficiency.
Imagerie médicale – Medical imaging
Review
Neuromuscul Disord. 2021 Oct;31(10):1038-1050. doi: 10.1016/j.nmd.2021.08.006. Epub 2021 Oct 9.
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches
David Gómez-Andrés 1, Amal Oulhissane 2, Susana Quijano-Roy 3
• 1Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, ERN-RND - EURO-NMD, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; European Network for Reference Centers on Neuromuscular Disorders (Euro-NMD ERN).
• 2Université Paris-Saclay, APHP, Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, 92390 Garches, France.
• 3Université Paris-Saclay, APHP, Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, 92390 Garches, France; UMR 1179, Laboratoire handicap neuromusculaire: physiopathologie biothérapie pharmacologie appliquées (END-ICAP), UFR Simone Veil, Montigny Le Bretonneux, France; French Network of Neuromuscular Reference Centers (FILNEMUS), France. Electronic address: susana.quijano-roy@aphp.fr.
• PMID: 34736625
• DOI: 10.1016/j.nmd.2021.08.006
Keywords: Heat-maps; Muscle MRI; Muscle ultrasound; Myopathies; Pattern recognition; a Machine learning.
Brain. 2021 Nov 11;awab411. doi: 10.1093/brain/awab411. Online ahead of print.
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
Laura E Habets 1, Bart Bartels 1, Fay-Lynn Asselman 2, Melissa T Hooijmans 3, Sandra van den Berg 3, Aart J Nederveen 3, W Ludo van der Pol 2, Jeroen A L Jeneson 1
• 1Centre for Child Development, Exercise and Physical Literacy, Wilhelmina Children's Hospital, University Medical Centre Utrecht, P.O. Box 85090 3508 AB Utrecht, The Netherlands.
• 2UMC Utrecht Brain Centre, Department of Neurology and Neurosurgery, University Medical Centre Utrecht Brain Center, Utrecht University, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.
• 3Department of Radiology & Nuclear Medicine, Amsterdam Movement Sciences, Amsterdam University Medical Centre, location AMC, 1105 AZ Amsterdam, The Netherlands.
• PMID: 34788410
• DOI: 10.1093/brain/awab411
Keywords: Magnetic Resonance; Spinal muscular atrophy; exercise; metabolism; muscle.
Eur J Neurol. 2021 Nov 9. doi: 10.1111/ene.15174. Online ahead of print.
Muscle MRI in Myotonic Dystrophy type 1 (DM1): refining muscle involvement and implications for clinical trials
Matteo Garibaldi 1, Tommaso Nicoletti 2 3, Elisabetta Bucci 1, Laura Fionda 1, Luca Leonardi 1, Stefania Morino 1, Laura Tufano 1, Girolamo Alfieri 1, Antonio Lauletta 1, Gioia Merlonghi 1, Alessia Perna 2 3, Salvatore Rossi 2 3, Enzo
Ricci 2 3, Tommaso Tartaglione 4, Antonio Petrucci 5, Elena Maria Pennisi 6, Marco Salvetti 1 7, Gary Cutter 8, Jordi Díaz-Manera 9 10 11, Gabriella Silvestri 2 3, Giovanni Antonini 1
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• 1Neuromuscular and Rare Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, 00189, Rome, Italy.
• 2UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168, Rome, Italy.
• 3Department of Neurosciences, Università Cattolica del Sacro Cuore, Facoltà di Medicina e Chirurgia, 00168, Rome, Italy.
• 4Department of Radiology, Istituto Dermopatico dell'Immacolata, IRCCS, 00167, Rome, Italy.
• 5Neurology Unit, San Camillo-Forlanini Hospital, 00152, Rome, Italy.
• 6Neurology Unit, San Filippo Neri Hospital, 00135, Rome, Italy.
• 7IRCCS Istituto Neurologico Mediterraneo (INM) Neuromed, 86077, Pozzilli, Italy.
• 8Department of Biostatistics, University of Alabama at Birmingham, 35233, Birmingham, AL, USA.
• 9John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle Hospitals NHS Foundation Trust, NE1 3BZ, Newcastle upon Tyne, United Kingdom.
• 10Neuromuscular Disorders Unit. Neurology Department, Universitat Autònoma de Barcelona. Hospital de la Santa Creu I Sant Pau, 08041, Barcelona, UK.
• 11Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), 08041, Spain.
• PMID: 34753219
• DOI: 10.1111/ene.15174
Keywords: CTG; Clinical trials; Muscle MRI; Muscle atrophy and inflammation; Myotonic Dystrophy type 1.
Rheumatology (Oxford). 2021 Nov 16;keab833. doi: 10.1093/rheumatology/keab833. Online ahead of print.
Preliminary Validation of Muscle Ultrasound in Juvenile Dermatomyositis (JDM)
Gulnara Mamyrova 1, Erica McBride 1, Lawrence Yao 2, Joseph A Shrader 3, Minal Jain 3, Jianhua Yao 2, Rodolfo V Curiel 1, Frederick W Miller 4, Michael O Harris-Love 3, Lisa G Rider 4
• 1Division of Rheumatology, Department of Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
• 2Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
• 3Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
• 4Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, MD, USA.
• PMID: 34791066
• DOI: 10.1093/rheumatology/keab833
Keywords: dermatomyositis; disease activity; disease damage; idiopathic inflammatory myopathies; juvenile dermatomyositis; magnetic resonance imaging; muscle; muscle ultrasound; myositis.
Case Reports
Australas J Ultrasound Med. 2021 May 5;24(3):173-177. doi: 10.1002/ajum.12245. eCollection 2021 Aug.
Fibrodysplasia ossificans progressiva: Diagnosis with ultrasound Lino Piotto 1, Ajay Taranath 1
• 1Department of Medical Imaging Women's and Children's Hospital Adelaide Australia.
• PMID: 34765427
• PMCID: PMC8409446 (available on 2022-05-05)
• DOI: 10.1002/ajum.12245
Keywords: fibrodysplasia; genetics; ultrasound.
J Clin Med. 2021 Oct 26;10(21):4945. doi: 10.3390/jcm10214945.
Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
Sungeun Hwang 1, Chang-Hyun Park 2, Regina Eun-Young Kim 3 4, Hyeon Jin Kim 2 5, Yun Seo Choi 6, Sol-Ah Kim 6, Jeong Hyun Yoo 7, Ki Wha Chung 8, Byung-Ok Choi 9 10 11, Hyang Woon Lee 1 2 6 12 13
• 1Departments of Neurology, Ewha Womans University Mokdong Hospital, Seoul 07985, Korea.
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• 2Departments of Neurology, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07985, Korea.
• 3Institute for Human Genomic Study, College of Medicine, Korea University, Ansan 15355, Korea.
• 4Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA.
• 5Department of Neurology, Korea University Ansan Hospital, Ansan 15355, Korea.
• 6Departments of Medical Science, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07804, Korea.
• 7Department of Radiology, College of Medicine, Ewha Womans University, Seoul 07985, Korea.
• 8Department of Biological Sciences, Kongju National University, Kongju 32588, Korea.
• 9Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
• 10Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences &
Technology, Sungkyunkwan University, Seoul 06351, Korea.
• 11Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul 06351, Korea.
• 12Department of Computational Medicine, Ewha Womans University, Seoul 07985, Korea.
• 13Department of System Health Science & Engineering, Ewha Womans University, Seoul 03765, Korea.
• PMID: 34768465
• PMCID: PMC8584387
• DOI: 10.3390/jcm10214945
Keywords: Charcot–Marie–Tooth disease (CMT); ataxia; cerebellum; diffusion tensor imaging (DTI); volumetry; white matter.
J Cardiovasc Magn Reson. 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6.
Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
Edyta Blaszczyk 1 2, Carolin Lim 1 2, Peter Kellman 3, Luisa Schmacht 1, Jan Gröschel 1 2, Simone Spuler 4, Jeanette Schulz-Menger 5 6
• 1Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
• 2DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
• 3National Heart, Lung and Blood Institute, National Institute of Health, Bethesda, USA.
• 4Muscle Research Unit, Experimental and Clinical Research Center a Jointoint Cooperationoperation Betweenetween the Charité Medical, Berlin, Germany.
• 5Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
jeanette.schulz-menger@charite.de.
• 6DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany. jeanette.schulz-menger@charite.de.
• PMID: 34743704
• PMCID: PMC8573966
• DOI: 10.1186/s12968-021-00812-6
Keywords: Facioscapulohumeral muscular dystrophy type 1; Fat; Fibrosis; Magnetic Resonance Imaging; Myotonic dystrophy type 2; Remodeling.
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ACR Open Rheumatol. 2021 Nov 10. doi: 10.1002/acr2.11371. Online ahead of print.
Clinical Image: Calcinosis cutis universalis in a patient with polymyositis/scleroderma overlap syndrome
Katie Carbonell 1, Nicole Droz 1
• 1Washington University School of Medicine, St. Louis, MO.
• PMID: 34758101
• DOI: 10.1002/acr2.11371