Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021)

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Bibliographie Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette bibliographie est issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-

Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche

Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les bibliographies précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase

Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie.

Previous reports are available on Myobase, theinformations tool about neuromuscular diseases.

Sommaire par maladies / diseases

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases ... 3

Amyotrophies bulbospinales – Bulbospinal amyotrophies ... 5

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ... 5

Canalopathies musculaires – Muscular channelopathies... 10

Dystrophies musculaires congénitales – Congenital muscular dystrophies ... 11

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ... 12

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 12

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 17

Dystroglycanopathies – Dystroglycanopathies ... 18

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 19 Dystrophies myotoniques – Myotonic dystrophies ... 19

Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ... 20

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ... 20

Myasthénie autoimmune – Myasthenia gravis ... 23

Myopathies congénitales – Congenital myopathies ... 26

Myopathies distales – Distal myopathies ... 26

Myopathies liées à la cavéoline 3 – CAV3 related myopathies ... 27

Myopathies inflammatoires – Inflammatory myopathies ... 28

Maladie de Pompe – Pompe disease ... 33

Myopathies métaboliques – Metabolic myopathies ... 34

Lipidoses musculaires – Lipid myopathies ... 35

Myopathies mitochondriales – Mitochondrial myopathies ... 36

Myotonies congénitales – Congenital myotonia ... 36

Titinopathies – Titinopathies ... 36

Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ... 37

Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (Multiple) ... 37

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 38

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 39

Divers – Miscellaneous ... 43

Anatomopathologie – Anatomical pathology ... 45

Cardiologie – Cardiology ... 45

Imagerie médicale – Medical imaging ... 47

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 50

Nephrologie – Nephrology ... 51

Ophtalmologie – Ophthalmology ... 51

Pneumologie – Pulmonogy ... 53

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases

1. Front Neurol. 2021 Sep 21;12:704928. doi: 10.3389/fneur.2021.704928. eCollection 2021.

Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?

Caterina Agosto¹, Eleonora Salamon¹, Luca Giacomelli², Simonetta Papa², Francesca Benedetti³, Franca Benini¹

 ¹Pediatric Pain and Palliative Care Service, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.

 ²Polistudium SRL, Milan, Italy.

 ³Pediatric Training Program, University of Padua, Padua, Italy.

 PMID: 34621235

 PMCID: PMC8491612

 DOI: 10.3389/fneur.2021.704928

Keywords: COVID-19 pandemic; PPC; SMA; nusinersen; nusinersen infusion delay.

Editorial

2. Acta Myol. 2021 Sep 30;40(3):113-115. doi: 10.36185/2532-1900-051. eCollection 2021 Sep.

Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disorders Vincenzo Russo¹, Luisa Politano^{2 3}

 ¹Department of Medical Translational Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.

 ²Cardiomyology and Medical Genetics, University of Campania "Luigi Vanvitelli", Naples, Italy.

 ³Gaetano Torre Association for Muscular Dystrophies, Research Unit, Naples, Italy.

 PMID: 34632292

 DOI: 10.36185/2532-1900-051

Keywords: COVID-19 vaccines; fever; neuromuscular disorders.

Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals' views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases

Giulia Citarelli¹, Ciro Garofalo¹, Maria Grazia Esposito¹, Vito Torre¹, Lorenza Magliano², Luisa Politano¹

 ¹Associazione Centro Gaetano Torre per Le Malattie Muscolari, Unità di Ricerca, Marano di Napoli, Naples, Italy.

 ²Department of Psychology, University of Campania "Luigi Vanvitelli", Caserta, Italy.

 PMID: 34632295

 DOI: 10.36185/2532-1900-054

Keywords: benefits; difficulties; muscle diseases; pandemic; rehabilitation setting.

Case Reports

4. Clin Case Rep. 2021 Oct 13;9(10):e04931. doi: 10.1002/ccr3.4931. eCollection 2021 Oct.

Dermatomyositis-lupus overlap syndrome complicated with cardiomyopathy after SARS-CoV-2 infection: A new potential trigger for musculoskeletal autoimmune disease development

Mohammad Shahidi Dadras^{1 2}, Azadeh Rakhshan³, Arman Ahmadzadeh⁴, Seyed Ali Hosseini⁵, Reem Diab¹, Toktam Safari Giv¹, Fahimeh Abdollahimajd^{1 2}

 ¹Skin Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.

 ²Clinical Research Development Unit Shohada-e Tajrish Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.

 ³Department of Pathology Shohada-e Tajrish Hospital School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.

 ⁴Department of Rheumatology Loghman Hakim Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.

 ⁵Medical Intern Student Research Committee Shiraz University of Medical Sciences Shiraz Iran.

 PMID: 34667608

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 DOI: 10.1002/ccr3.4931

Keywords: COVID‐19; dermatomyositis; lupus erythematosus; myositis; trigger.

Published Erratum

5. J Clin Immunol. 2021 Oct 7;1. doi: 10.1007/s10875-021-01135-y. Online ahead of print.

Correction to: Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection

Mathieu Paul Rodero¹, Stéphane Pelleau², Anne Welfringer-Morin³, FJDM study group; Darragh Duffy⁴, Isabelle Melki^{5 6 7}, Brigitte Bader-Meunier^{8 9}

 ¹Chimie & Biologie, Modélisation et Immunologie pour la Thérapie (CBMIT), Université Paris Descartes, CNRS, UMR8601, Paris, France.

 ²Infectious Diseases Epidemiology and Analytics Unit, Department of Global Health, Institut Pasteur, Paris, France.

 ³Department of Dermatology, Université de Paris AP-HP-5, Necker-Enfants Malades Hospital, Paris, France.

 ⁴Translational Immunology Lab, Institut, Pasteur, Paris, France.

 ⁵Laboratory of Neurogenetics and Neuroinflammation, Imagine, Institute, Paris University, Paris, France.

 ⁶General Paediatrics, Department of Infectious Disease and Internal, Medicine, Reference Centre for Rheumatic, AutoImmune and Systemic diseases in children (RAISE), Robert Debré, HospitalParis, AP-HP, France.

 ⁷Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP- HP, Paris, France, Reference center for Rheumatic, AutoImmune and Systemic diseases in children (RAISE), Paris, France.

 ⁸Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP- HP, Paris, France, Reference center for Rheumatic, AutoImmune and Systemic diseases in children (RAISE), Paris, France. brigitte.bader-meunier@aphp.fr.

 ⁹Laboratory of Immunogenetics of Paediatric Autoimmunity, Imagine Institute, Inserm U 1163, Paris University, Paris, France. brigitte.bader-meunier@aphp.fr.

 PMID: 34622390

 DOI: 10.1007/s10875-021-01135-y

Erratum for Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection. Rodero et al.J Clin Immunol. 2021 Aug 23:1-3. doi: 10.1007/s10875-021-01119-y. Online ahead of print.PMID: 34426906

MYOBASE link : https://www.myobase.org/index.php?lvl=notice_display&id=73250

6. J Eur Acad Dermatol Venereol. 2021 Oct 17. doi: 10.1111/jdv.17760. Online ahead of print.

Severe necrotizing myopathy after COVID-19 vaccine with BNT162b2 and regimen with ipilimumab plus nivolumab in a patient with advanced melanoma

Manon Blaise¹, Fanny Rocher², Hélène Spittler³, Adrien Sanchez¹, Elisabeth Lanteri⁴, Lucia Coco⁵, Angela Puma⁶, Arnaud Martel⁷, Geraldine Gonfrier⁸, Thierry Passeron^{1 9}, Henri Montaudié^{1 9}

 ¹Department of Dermatology, Université Côte d'Azur, Nice, France.

 ²Department of Pharmacology and Toxicology, PharmacoVigilance Center, Université Côte d'Azur, Nice, France.

 ³Physical and Rehabilitation Medicine, Université Côte d'Azur, Nice, France.

 ⁴Laboratory of clinical and experimental pathology, Université Côte d'Azur, Nice, France.

 ⁵Department of Radiology, Université Côte d'Azur, Nice, France.

 ⁶Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Université Côte d'Azur, Nice, France.

 ⁷Department of Ophtalmology, Université Côte d'Azur, Nice, France.

 ⁸Department of Virology, Université Côte d'Azur, CHU Nice, Nice, France.

 ⁹INSERM U1065, Centre Méditerranéen de Médecine Moléculaire, Université Côte d'Azur, Nice, France.

 PMID: 34661938

 DOI: 10.1111/jdv.17760

Keywords: BTN162b2 mRNA COVID-19 vaccine; Immune checkpoint inhibitors; Immunotherapy; Myositis; Necrotizing myopathy.

7. Rheumatology (Oxford). 2021 Oct 19;keab773. doi: 10.1093/rheumatology/keab773. Online ahead of print.

Systemic autoimmune myopathies: A prospective phase 4 controlled trial of an inactivated virus vaccine against SARS-CoV-2

Samuel K Shinjo¹, Fernando H C de Souza¹, Isabela B P Borges¹, Alexandre M Dos Santos¹, Renata Miossi¹, Rafael G Misse¹, Ana C Medeiros-Ribeiro¹, Carla G S Saad¹, Emily F N Yuki¹, Sandra G Pasoto¹, Léonard V K Kupa¹, Carina Ceneviva², Júlia C Seraphim¹, Tatiana N Pedrosa¹, Margarete B G Vendramini¹, Clóvis A Silva³, Nádia E

Aikawa^{1 3}, Eloisa Bonfá¹

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ¹Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil (BR).

 ²Central Laboratory Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil (BR).

 ³Pediatric Rheumatology Unit, Childrens' Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil (BR).

 PMID: 34664616

 DOI: 10.1093/rheumatology/keab773

Keywords: Anti-SARS-CoV-2 vaccine; COVID-19; immunogenicity; myositis; neutralizing antibodies; safety.

8. Eur J Neurol. 2021 Oct 19. doi: 10.1111/ene.15147. Online ahead of print.

Neurological autoimmune diseases following vaccinations against SARS-CoV-2: a case series Leon D Kaulen¹, Sofia Doubrovinskaia¹, Christoph Mooshage², Berit Jordan¹, Jan Purrucker¹, Carmen

Haubner¹, Corinna Seliger¹, Hanns-Martin Lorenz³, Simon Nagel¹, Brigitte Wildemann¹, Martin Bendszus², Wolfgang Wick¹, Silvia Schönenberger¹

 ¹Department of Neurology, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.

 ²Department of Neuroradiology, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.

 ³Division of Rheumatology, Department of Internal Medicine V, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.

 PMID: 34668274

 DOI: 10.1111/ene.15147

Keywords: Autoimmune; COVID-19; Cerebral venous sinus thrombosis; Guillain-Barré-syndrome; Multiple sclerosis;

Myelitis; Myositis.

Amyotrophies bulbospinales – Bulbospinal amyotrophies

Review

9. Pharmacol Ther. 2021 Oct 15;108023. doi: 10.1016/j.pharmthera.2021.108023. Online ahead of print.

Recent advances in riboflavin transporter RFVT and its genetic disease Congyun Jin¹, Atsushi Yonezawa²

 ¹Department of Clinical Pharmacology and Therapeutics, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan; Graduate School of Pharmaceutical Sciences, Kyoto University, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.

 ²Department of Clinical Pharmacology and Therapeutics, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan; Graduate School of Pharmaceutical Sciences, Kyoto University, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address: ayone@kuhp.kyoto-u.ac.jp.

 PMID: 34662687

 DOI: 10.1016/j.pharmthera.2021.108023

Keywords: Brown-Vialetto-Van Laere syndrome; Genetic diseases; Riboflavin transporter.

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA)

10. Orphanet J Rare Dis. 2021 Oct 20;16(1):441. doi: 10.1186/s13023-021-02075-x.

1 H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Afshin Saffari¹, Claire Cannet², Astrid Blaschek³, Andreas Hahn⁴, Georg F Hoffmann¹, Jessika Johannsen⁵, Romy Kirsten⁶, Musa Kockaya⁷, Stefan Kölker¹, Wolfgang Müller-Felber³, Andreas Roos⁸, Hartmut Schäfer², Ulrike Schara⁸, Manfred Spraul², Friedrich K Trefz¹, Katharina Vill³, Wolfgang Wick⁹, Markus Weiler⁹, Jürgen G Okun¹, Andreas Ziegler¹⁰

 ¹Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

 ²Bruker BioSpin GmbH, Rheinstetten, Germany.

 ³Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, LMU Hospital, Dr. von Hauner Children's Hospital, Munich, Germany.

 ⁴Department of Child Neurology, University Hospital Gießen, Gießen, Germany.

 ⁵Department of Pediatrics, Neuropediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

 ⁶NCT Liquidbank, National Center for Tumor Diseases, Heidelberg, Germany.

 ⁷, Buchener Str. 12, Mannheim, Germany.

 ⁸Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, Children's University Clinic Essen, University of Duisburg-Essen, Essen, Germany.

 ⁹Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ¹⁰Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Andreas.Ziegler@med.uni- heidelberg.de.

 PMID: 34670613

 DOI: 10.1186/s13023-021-02075-x

Keywords: 1H-nuclear magnetic resonance; Metabolic profiling; NMR; SMA; Spinal muscular atrophy; Urinary fingerprints.

11. Neurol Neurochir Pol. 2021 Oct 19. doi: 10.5603/PJNNS.a2021.0074. Online ahead of print.

Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment

Anna Kostera-Pruszczyk¹, Łukasz Napiórkowski², Krystyna Szymańska³, Joanna Jędrzejczak⁴, Marcin Roszkowski⁵, Jerzy Słowiński⁶, Anna Frączek⁷, Danuta Ryglewicz⁸, Barbara Więckowska⁹

 ¹Department of Neurology, Medical University of Warsaw, Warsaw, Poland; ERN EURO-NMD, Poland.

anna.kostera-pruszczyk@wum.edu.pl.

 ²Department of Analyses and Strategy, Ministry of Healthcare, Warsaw, Poland.

 ³Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw, Poland.

 ⁴Department of Neurology and Epileptology Centre of Postgraduate Medical Education, Warsaw, Poland.

 ⁵Department of Neurosurgery, The Children's Memorial Health Institute, Warsaw, Poland.

 ⁶Medical University of Silesia, School of Public Health, Katowice, Poland.

 ⁷Department of Neurology, Medical University of Warsaw, Warsaw, Poland; ERN EURO-NMD, Poland.

 ⁸Military Institute of Aviation Medicine, Warsaw, Poland.

 ⁹Social Insurance Department, Warsaw School of Economics, Warsaw, Poland.

 PMID: 34664710

 DOI: 10.5603/PJNNS.a2021.0074

Keywords: epidemiology; healthcare burden; incidence; spinal muscular atrophy.

12. Pharmacoeconomics. 2021 Oct 18. doi: 10.1007/s40273-021-01095-6. Online ahead of print.

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA) Noman Paracha¹, Pollyanna Hudson², Stephen Mitchell², C Simone Sutherland³

 ¹F. Hoffmann-La Roche Ltd, Basel, Switzerland.

 ²Mtech Access Limited, Bicester, Oxfordshire, UK.

 ³F. Hoffmann-La Roche Ltd, Basel, Switzerland. simone.sutherland@roche.com.

 PMID: 34658008

 DOI: 10.1007/s40273-021-01095-6

13. Pharmacoeconomics. 2021 Oct 18. doi: 10.1007/s40273-021-01092-9. Online ahead of print.

Preferences and Utilities for Treatment Attributes in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy in the United Kingdom

Siu Hing Lo¹, Ksenija Gorni², C Simone Sutherland², Yasmina Martí², Andrew Lloyd^{# 3}, Noman Paracha^{# 2}

 ¹Acaster Lloyd Consulting Ltd, Lacon House, 84 Theobalds Road, WC1X 8NL, London, UK.

 ²F. Hoffmann-La Roche Ltd, Basel, Switzerland.

 ³Acaster Lloyd Consulting Ltd, Lacon House, 84 Theobalds Road, WC1X 8NL, London, UK.

andrew.lloyd@acasterlloyd.com.

#Contributed equally.

 PMID: 34658007

 DOI: 10.1007/s40273-021-01092-9 Review

14. Orphanet J Rare Dis. 2021 Oct 13;16(1):430. doi: 10.1186/s13023-021-02065-z.

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta- analysis

Giorgia Coratti^{# 1 2}, Costanza Cutrona^{# 1}, Maria Carmela Pera^{# 1 2}, Francesca Bovis³, Marta Ponzano³, Fabrizia Chieppa¹, Laura Antonaci^{1 2}, Valeria Sansone⁴, Richard Finkel⁵, Marika Pane^{1 2}, Eugenio Mercuri^{6 7}

 ¹Pediatric Neurology, Catholic University of Sacred Heart, Largo Gemelli 8, 00168, Rome, Italy.

 ²Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

 ³Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.

 ⁴Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy.

 ⁵St. Jude Children's Research Hospital, Memphis, USA.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ⁶Pediatric Neurology, Catholic University of Sacred Heart, Largo Gemelli 8, 00168, Rome, Italy.

eugeniomaria.mercuri@unicatt.it.

 ⁷Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

eugeniomaria.mercuri@unicatt.it.

 PMID: 34645478

 DOI: 10.1186/s13023-021-02065-z

MYOBASE link : https://www.myobase.org/index.php?lvl=notice_display&id=73514 Keywords: Critical review; Nusinersen; Spinal muscular atrophy.

15. Muscle Nerve. 2021 Oct 13. doi: 10.1002/mus.27439. Online ahead of print.

Gene Replacement Therapy for Spinal Muscular Atrophy Unmasking Occult Hepatitis C in a Pediatric Patient

Arpita Lakhotia^{1 2 3}, Grant Turek^{2 3}, Julianne Green^{1 2 4}, Maria Khan^{1 2 5}

 ¹Norton Children's Medical Group.

 ²University of Louisville.

 ³Division of Child Neurology.

 ⁴Division of Pediatric Infectious Diseases.

 ⁵Division of Pediatric Gastroenterology.

 PMID: 34644404

 DOI: 10.1002/mus.27439

Keywords: Gene replacement therapy; Hepatitis C; Spinal Muscular Atrophy.

16. Int J Environ Res Public Health. 2021 Sep 22;18(19):9959. doi: 10.3390/ijerph18199959.

Intravenous Tranexamic Acid Reduces Blood Loss and Transfusion Volume in Scoliosis Surgery for Spinal Muscular Atrophy: Results of a 20-Year Retrospective Analysis

Shih-Hsiang Chou^{1 2 3 4}, Sung-Yen Lin^{1 2 3 5}, Meng-Huang Wu^{6 7}, Yin-Chun Tien^{1 5}, Yuh-Jyh Jong^{8 9 10 11}, Wen-Chen Liang^{8 9}, Yen-Mou Lu^{1 5}, Chia-Lung Shih¹², Cheng-Chang Lu 1 2 3 5 13

 ¹Department of Orthopaedic Surgery, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.

 ²Orthopaedic Research Centre, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ³Regenerative Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ⁴Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ⁵Department of Orthopaedics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ⁶Department of Orthopedics, Taipei Medical University Hospital, Taipei 11031, Taiwan.

 ⁷Department of Orthopaedics, School of Medicine, College of Medicine, Taipei Medical University, Taipei 11031, Taiwan.

 ⁸Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.

 ⁹Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ¹⁰Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

 ¹¹Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.

 ¹²Clinical Medicine Research Center, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chia-Yi City 600, Taiwan.

 ¹³Department of Orthopaedics, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung 812, Taiwan.

 PMID: 34639259

 DOI: 10.3390/ijerph18199959

Keywords: blood loss; scoliosis surgery; spinal muscular atrophy; tranexamic acid; transfusion volume.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021) 17. Int J Mol Sci. 2021 Sep 23;22(19):10234. doi: 10.3390/ijms221910234.

Regulation of Survival Motor Neuron Gene Expression by Calcium Signaling

Kwangman Choi^{1 2}, Ansook Yang^{1 3}, Jiyeon Baek^{1 3}, Hyejeong Jeong^{1 3}, Yura Kang^{4 5}, Woosun Baek^{4 5}, Joon-Chul Kim⁶, Mingu Kang^{1 3}, Miri Choi^{1 3}, Youngwook Ham^{1 7}, Min-Jeong Son⁶, Sang-Bae Han³, Janghwan Kim⁸, Jae-Hyuk Jang^{7 9}, Jong Seog Ahn^{7 9}, Haihong Shen¹⁰, Sun-Hee Woo⁶, Jong Heon Kim^{4 5}, Sungchan Cho^{1 7}

 ¹Natural Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Korea.

 ²Department of Medical Biotechnology, SoonChunHyang University, Asan 31538, Korea.

 ³College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea.

 ⁴Department of Cancer Biomedical Science, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang 10408, Korea.

 ⁵Cancer Molecular Biology Branch, Division of Cancer Biology, Research Institute, National Cancer Center, Goyang 10408, Korea.

 ⁶College of Pharmacy, Chungnam National University, Daejeon 34134, Korea.

 ⁷Department of Biomolecular Science, KRIBB School of Bioscience, Korea University of Science and Technology, Daejeon 34113, Korea.

 ⁸Stem Cell Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 34141, Korea.

 ⁹Anticancer Agent Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Korea.

 ¹⁰Gwangju Institute of Science and Technology, School of life Sciences, Gwangju 61005, Korea.

 PMID: 34638572

 DOI: 10.3390/ijms221910234

Keywords: SMN; brefeldin A (BFA); calcium signaling; neuromuscular disease; pre-mRNA splicing; spinal muscular atrophy (SMA); splicing modulator.

18. BMC Musculoskelet Disord. 2021 Oct 11;22(1):867. doi: 10.1186/s12891-021-04737-0.

Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery

Shih-Hsiang Chou^{1 2 3}, Wen-Wei Li¹, Cheng-Chang Lu^{2 3 4 5}, Kun-Ling Lin^{6 7}, Sung-Yen Lin^{1 2 3 4}, Po-Chih Shen^{1 2}, Yin- Chun Tien^{1 4}, Hsuan-Ti Huang 8 9 10 11 12

 ¹Department of Orthopaedic Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ²Orthopaedic Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ³Regeneration Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ⁴Departments of Orthopedics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ⁵Department of Orthopaedics, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ⁶Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ⁷Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

 ⁸Department of Orthopaedic Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan. hthuang@kmu.edu.tw.

 ⁹Orthopaedic Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan. hthuang@kmu.edu.tw.

 ¹⁰Regeneration Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan.

hthuang@kmu.edu.tw.

 ¹¹Departments of Orthopedics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. hthuang@kmu.edu.tw.

 ¹²Department of Orthopedics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, No. 100, Shiquan 1st Rd., Sanmin Dist., Kaohsiung City, Taiwan. hthuang@kmu.edu.tw.

 PMID: 34635092

 DOI: 10.1186/s12891-021-04737-0

Keywords: Hybrid constructs; Scoliosis; Segmental instrumentation; Spinal muscular atrophy; Sublaminar wire.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021) 19. J Mol Med (Berl). 2021 Oct 9. doi: 10.1007/s00109-021-02130-x. Online ahead of print.

Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology

Yuhong Zhang^{# 1}, Xu Chen^{# 1}, Qiqi Wang^{# 1}, Congcong Du¹, Wenbin Lu¹, Hong Yuan¹, Zhenzhen Zhang¹, Danqing Li¹, Xing Ling¹, Xiang Ren¹, Yang Zhao¹, Qi Su¹, Zhengcao Xing¹, Yuanyuan Qin¹, Xinyi Yang¹, Yajie Shen¹, Hongmei Wu², Yitao Qi³

 ¹Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Developing of Endangered Chinese Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi'an, 710119, Shaanxi, China.

 ²Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Developing of Endangered Chinese Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi'an, 710119, Shaanxi, China. hq8479@snnu.edu.

 ³Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Developing of Endangered Chinese Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi'an, 710119, Shaanxi, China. qiyitao@snnu.edu.cn.

 PMID: 34628513

 DOI: 10.1007/s00109-021-02130-x

Keywords: Protein stability; SMA; SMN; SUMOylation; Ubiquitination.

20. Sci Rep. 2021 Oct 7;11(1):19922. doi: 10.1038/s41598-021-99496-2.

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

François Boemer¹, Jean-Hubert Caberg², Pablo Beckers³, Vinciane Dideberg², Samantha di Fiore³, Vincent Bours⁴, Sandrine Marie⁵, Joseph Dewulf⁵, Lionel Marcelis⁶, Nicolas Deconinck⁷, Aurore Daron⁸, Laura Blasco- Perez⁹, Eduardo Tizzano⁹, Mickaël Hiligsmann¹⁰, Jacques Lombet¹¹, Tatiana Pereira¹¹, Lucia Lopez-

Granados¹¹, Sarvnaz Shalchian-Tehran¹², Véronique van Assche¹³, Arabelle Willems¹³, Sofie Huybrechts¹⁴, Bénédicte Mast¹⁵, Rudolf van Olden¹⁶, Tamara Dangouloff⁸, Laurent Servais^{8 17}

 ¹Biochemical Genetics Laboratory, Human Genetics, CHU Sart-Tilman, University of Liège, B35, 4000, Liège, Belgium. F.Boemer@chuliege.be.

 ²Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.

 ³Biochemical Genetics Laboratory, Human Genetics, CHU Sart-Tilman, University of Liège, B35, 4000, Liège, Belgium.

 ⁴Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.

 ⁵Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.

 ⁶Laboratory of Pediatric Research, Free University of Brussels, Brussels, Belgium.

 ⁷Neuromuscular Reference Center, Hôpital des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.

 ⁸Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHR Citadelle, University of Liège, Liège, Belgium.

 ⁹Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain.

 ¹⁰Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands.

 ¹¹ONE, Office de la Naissance et de l'Enfance, Herstal, Belgium.

 ¹²Department of Neurology and Ethic Committee, CHR Citadelle, Liège, Belgium.

 ¹³ABMM, Association Belge contre les Maladies neuro-Musculaires ASBL, La Louvière, Belgium.

 ¹⁴Biogen, Cambridge, MA, USA.

 ¹⁵Roche, Basel, Switzerland.

 ¹⁶Novartis Gene Therapies Switzerland GmBH, Zürich, Switzerland.

 ¹⁷MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK.

 PMID: 34620959

 DOI: 10.1038/s41598-021-99496-2

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

21. Drug Metab Dispos. 2021 Oct 7;DMD-MR-2021-000563. doi: 10.1124/dmd.121.000563. Online ahead of print.

Addressing today's ADME challenges in the translation of in vitro absorption, distribution, metabolism and excretion characteristics to human: A case study of the SMN2 mRNA splicing modifier risdiplam Stephen Fowler¹, Andreas Brink², Yumi Cleary², Andreas Guenther², Katja Heinig², Christophe Husser³, Heidemarie Kletzl², Nicole A Kratochwil⁴, Lutz Mueller², Mark Savage⁵, Cordula Stillhart⁶, Dietrich W Tuerck⁷, Mohammed Ullah⁸, Kenichi Umehara⁸, Agnès Poirier⁹

 ¹Drug Metabolism, F. Hoffmann-La Roche Ltd, Switzerland.

 ²Pharmaceutical Sciences, Roche Pharma Research and Early Development, F. Hoffmann-La Roche Ltd, Switzerland.

 ³iSafe-ADME, Hoffmann-La Roche, Switzerland.

 ⁴Pharmaceutical Sciences, F. Hoffmann-LaRoche, Switzerland.

 ⁵Unilabs York Bioanalytical Solutions, United Kingdom.

 ⁶Formulation & Process Sciences, Pharmaceutical R&D, F. Hoffmann-La Roche Ltd, Switzerland.

 ⁷Nonclinical DMPK, F.Hoffmann La Roche AG., Switzerland.

 ⁸Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Switzerland.

 ⁹Pharmaceutical Sciences, F.Hoffmann-La Roche, Switzerland agnes.poirier@roche.com.

 PMID: 34620695

 DOI: 10.1124/dmd.121.000563

Keywords: ADME; in vitro-in vivo prediction (IVIVE); physiologically-based pharmacokinetic modeling/PBPK.

22. Can J Neurol Sci. 2021 Oct 8;1-7. doi: 10.1017/cjn.2021.231. Online ahead of print.

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

Kristin D Kernohan, Hugh J McMillan, Ed Yeh, Melanie Lacaria, Michael Kowalski, Craig Campbell, James J

Dowling, Hernan Gonorazky, Janet Marcadier, Mark A Tarnopolsky, Jiri Vajsar, Alex Mackenzie, Pranesh Chakraborty

 PMID: 34620260

 DOI: 10.1017/cjn.2021.231

23. J Mol Diagn. 2021 Oct 14;S1525-1578(21)00325-1. doi: 10.1016/j.jmoldx.2021.09.007. Online ahead of print.

Rare Variants in RPPH1 qPCR Control Assay Binding Sites Result in Incorrect Copy Number Calls Robert J Sicko¹, Paul A Romitti², Marilyn L Browne³, Lawrence C Brody⁴, Colleen F Stevens¹, James L Mills⁵, Michele Caggana¹, Denise M Kay⁶

 ¹Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.

 ²Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA.

 ³Birth Defects Registry, New York State Department of Health, Albany, NY and University at Albany School of Public Health, Rensselaer, NY.

 ⁴Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

 ⁵Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

 ⁶Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY. Electronic address:

denise.kay@health.ny.gov.

 PMID: 34656763

 DOI: 10.1016/j.jmoldx.2021.09.007

Canalopathies musculaires – Muscular channelopathies

Review

24. Front Pharmacol. 2021 Oct 4;12:751095. doi: 10.3389/fphar.2021.751095. eCollection 2021.

New Challenges Resulting From the Loss of Function of Na v 1.4 in Neuromuscular Diseases Sophie Nicole^{1 2}, Philippe Lory^{1 2}

 ¹Institut de Génomique Fonctionnelle (IGF), Université de Montpellier, CNRS, INSERM, Montpellier, France.

 ²LabEx 'Ion Channel Science and Therapeutics (ICST), Montpellier, France.

 PMID: 34671263

 DOI: 10.3389/fphar.2021.751095

Keywords: congenital myasthenic syndrome (CMS); congenital myopathy (CM); loss of function; skeletal muscle; sodium channel; therapeutics.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021) Review

25. J Interv Card Electrophysiol. 2021 Oct 19. doi: 10.1007/s10840-021-01077-w. Online ahead of print.

Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review

Roberto Keegan¹, Leonardo Onetto², Franco Gregorietti², Ricardo Urruti², Luigi Di Biase³

 ¹Electrophysiology Service, Hospital Privado del Sur, Bahía Blanca, Argentina. robertokeegan@gmail.com.

 ²Electrophysiology Service, Hospital Privado del Sur, Bahía Blanca, Argentina.

 ³Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA.

 PMID: 34665385

 DOI: 10.1007/s10840-021-01077-w

Keywords: Andersen-Tawil syndrome; Catheter ablation; Papillary muscles; Purkinje network; Ventricular arrhythmias.

26. Commun Biol. 2021 Oct 7;4(1):1164. doi: 10.1038/s42003-021-02675-0.

Monitoring of compound resting membrane potentials of cell cultures with ratiometric genetically encoded voltage indicators

Philipp Rühl¹, Johanna M Langner¹, Jasmin Reidel¹, Roland Schönherr¹, Toshinori Hoshi², Stefan H Heinemann³

 ¹Center for Molecular Biomedicine, Department of Biophysics, Friedrich Schiller University Jena and Jena University Hospital, D-07745, Jena, Germany.

 ²Department of Physiology, University of Pennsylvania, Philadelphia, PA, USA.

 ³Center for Molecular Biomedicine, Department of Biophysics, Friedrich Schiller University Jena and Jena University Hospital, D-07745, Jena, Germany. Stefan.H.Heinemann@uni-jena.de.

 PMID: 34620975

 DOI: 10.1038/s42003-021-02675-0

Dystrophies musculaires congénitales – Congenital muscular dystrophies

27. iScience. 2021 Sep 17;24(10):103140. doi: 10.1016/j.isci.2021.103140. eCollection 2021 Oct 22.

Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy

Mariko Taniguchi-Ikeda^{1 2 3}, Michiyo Koyanagi-Aoi^{4 5 6}, Tatsuo Maruyama⁷, Toru Takaori^{8 9}, Akiko Hosoya^{4 5 6}, Hiroyuki Tezuka¹⁰, Shotaro Nagase¹¹, Takuma Ishihara¹², Taisuke Kadoshima¹¹, Keiko Muguruma^{13 14}, Keiko Ishigaki¹⁵, Hidetoshi Sakurai⁸, Akira Mizoguchi¹⁶, Bennett G Novitch^{17 18 19}, Tatsushi Toda²⁰, Momoko Watanabe^{21 22}, Takashi Aoi^{4 5 6}

 ¹Department of Clinical Genetics, Fujita Health University Hospital, 1-98 Dengakugakubo, Kutsukake-chou, Toyoake, Aichi 470-1192, Japan.

 ²Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

 ³Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan.

 ⁴Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Hyogo 650-0017, Japan.

 ⁵Department of iPS Cell Applications, Graduate School of Medicine, Kobe University, Kobe, Hyogo 650-0017, Japan.

 ⁶Center for Human Resource Development for Regenerative Medicine, Kobe University Hospital, Kobe, Hyogo 650-0017, Japan.

 ⁷Department of Chemical Science and Engineering, Graduate School of Engineering, Kobe University, Kobe, Hyogo 657-8501, Japan.

 ⁸Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Sakyo-ku, Kyoto 606-8507, Japan.

 ⁹Department of Pediatrics, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto 606-8507, Japan.

 ¹⁰Department of Cellular Function Analysis, Research Promotion and Support Headquarters, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

 ¹¹Asubio Pharma Co., Ltd., Kobe, Hyogo 650-0047, Japan.

 ¹²Innovative and Clinical Research Promotion Center, Gifu University Hospital, Yanagido, Gifu 501-1194, Japan.

 ¹³Laboratory for Cell Asymmetry, RIKEN Center for Developmental Biology, Kobe, Hyogo 650-0047, Japan.

 ¹⁴Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Hirakata, Osaka 573-1010, Japan.

 ¹⁵Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Shinjuku-ku, Tokyo 162- 8666, Japan.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

 ¹⁶Department of Personalized Cancer Immunotherapy, Mie University Graduate School of Medicine, Tsu, Mie 514-8507, Japan.

 ¹⁷Department of Neurobiology, David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, CA 90095, USA.

 ¹⁸Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, UCLA, Los Angeles, CA, USA.

 ¹⁹Intellectual and Developmental Disabilities Research Center, UCLA, Los Angeles, CA 90095, USA.

 ²⁰Department of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8655, Japan.

 ²¹Department of Anatomy and Neurobiology, School of Medicine, University of California, Irvine, Irvine, CA 92697, USA.

 ²²Sue & Bill Gross Stem Cell Research Center, School of Medicine, University of California, Irvine, Irvine, CA 92697, USA.

 PMID: 34632335

 DOI: 10.1016/j.isci.2021.103140

Keywords: Neuroscience; Pathophysiology; Tissue Engineering.

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies

Case Reports

28. Braz J Anesthesiol. 2021 Oct 5;S0104-0014(21)00360-2. doi: 10.1016/j.bjane.2021.07.037. Online ahead of print.

Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report

Ana Isabel Leite¹, Sofia da Silva Ramos², Raquel Inácio², Isabel Rute Vilhena², Joana Carvalhas²

 ¹Centro Hospitalar E Universitário de Coimbra, E.P.E, Coimbra, Portugal. Electronic address:

ana.leite71@gmail.com.

 ²Centro Hospitalar E Universitário de Coimbra, E.P.E, Coimbra, Portugal.

 PMID: 34624368

 DOI: 10.1016/j.bjane.2021.07.037

Keywords: Airway management; Case report; Emery-Dreifuss muscular dystrophy; Epidural anesthesia; Malignant hyperthermia.

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies

29. Pharm Res. 2021 Oct 20. doi: 10.1007/s11095-021-03118-5. Online ahead of print.

Pharmacokinetic/Pharmacodynamic Modeling of a Cell-Penetrating Peptide Phosphorodiamidate Morpholino Oligomer in mdx Mice

Marie Claire Mukashyaka¹, Chia-Ling Wu², Kristin Ha², Jianbo Zhang³, Jenna Wood³, Samantha Foley², Bryan Mastis², Nino Jungels², Huadong Sun⁴, Mohammad Shadid³, Shawn Harriman³, John R Hadcock³

 ¹Translational Sciences Group, Sarepta Therapeutics, Inc., 215 First St., Cambridge, MA, 02142, USA.

cmukashyaka@sarepta.com.

 ²Biology Group, Sarepta Therapeutics, Inc., Cambridge, MA, USA.

 ³Translational Sciences Group, Sarepta Therapeutics, Inc., 215 First St., Cambridge, MA, 02142, USA.

 ⁴Clinical Pharmacology Group, Sarepta Therapeutics, Inc., Cambridge, MA, USA.

 PMID: 34671920

 DOI: 10.1007/s11095-021-03118-5

Keywords: Duchenne muscular dystrophy; Peptide-conjugated phosphorodiamidate morpholino oligomers;

Pharmacokinetic/pharmacodynamic model; Phosphorodiamidate morpholino oligomers; Simulation.

Case Reports

30. J Cardiothorac Vasc Anesth. 2021 Oct 1;S1053-0770(21)00875-2. Online ahead of print.

Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy Christopher Cullom¹, Victoria Vo¹, Melissa D McCabe²

 ¹Department of Anesthesiology, Loma Linda University, Loma Lina, CA.

 ²Department of Anesthesiology, Loma Linda University, Loma Lina, CA. Electronic address: mmccabe@llu.edu.

 PMID: 34670720

 DOI: 10.1053/j.jvca.2021.09.047

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Keywords: adult dystrophinopathy; dilated cardiomyopathy; manifesting carrier Duchenne muscular dystrophy; orthotopic heart transplantation.

31. Arq Neuropsiquiatr. 2021 Sep;79(9):766-773. doi: 10.1590/0004-282X-ANP-2020-0458.

Autonomic modulation at rest and in response to postural change in adolescents with Duchenne muscular dystrophy: a cross-sectional study

Mariana Viana Rodrigues¹, Mileide Cristina Stoco-Oliveira¹, Talita Dias da Silva², Celso Ferreira², Heloisa Balotari Valente¹, Laís Manata Vanzella¹, Luiz Carlos Marques Vanderlei¹

 ¹Universidade Estadual Paulista, Faculdade de Ciências e Tecnologia, Presidente Prudente SP, Brazil.

 ²Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brazil.

 PMID: 34669819

 DOI: 10.1590/0004-282X-ANP-2020-0458

32. FEBS Open Bio. 2021 Oct 20. doi: 10.1002/2211-5463.13317. Online ahead of print.

Characterization of Alzheimer's Disease-like neuropathology in Duchenne's Muscular Dystrophy using the DBA/2J mdx mouse model

Grant C Hayward¹, Daniela Caceres², Emily N Copeland³, Bradley J Baranowski⁴, Ahmad Mohammad⁴, Kennedy C Whitley³, Val A Fajardo³, Rebecca Ek MacPherson⁴

 ¹Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.

 ²Faculty of Medicine, University of del Rosario, Bogota, Columbia.

 ³Department of Kinesiology, Brock University, St. Catharines, ON, Canada.

 ⁴Department of Health Sciences, Brock University, St. Catharines, ON, Canada.

 PMID: 34668666

 DOI: 10.1002/2211-5463.13317

Keywords: Alzheimer’s Disease; Duchenne Muscular Dystrophy; amyloid; brain; cognition; muscular dystrophy.

33. Egypt Heart J. 2021 Oct 19;73(1):91. doi: 10.1186/s43044-021-00214-0.

Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers

Mahmoud Shehta¹, Mona Mostafa Rayan¹, Nagia Aly Fahmy², Ahmed Onsy¹, Islam Bastawy³

 ¹Department of Cardiology, Ain Shams University, 38 Ramsis Street, El Abbaseya, Cairo, Egypt.

 ²Department of Neurology, Ain Shams University, Cairo, Egypt.

 ³Department of Cardiology, Ain Shams University, 38 Ramsis Street, El Abbaseya, Cairo, Egypt.

islambastawy@hotmail.com.

 PMID: 34665363

 DOI: 10.1186/s43044-021-00214-0

Keywords: Cardiomyopathy; Global longitudinal strain; Heart failure; Neuromuscular disorders; X-linked recessive.

34. J Med Chem. 2021 Oct 15. doi: 10.1021/acs.jmedchem.1c01206. Online ahead of print.

Discovery of a Highly Potent and Selective Degrader Targeting Hematopoietic Prostaglandin D Synthase via In Silico Design

Hidetomo Yokoo¹, Norihito Shibata², Akinori Endo³, Takahito Ito¹, Yuta Yanase^{1 4}, Yuki Murakami^{1 4}, Kiyonaga Fujii⁵, Kengo Hamamura⁶, Yasushi Saeki³, Mikihiko Naito⁷, Kosuke Aritake⁶, Yosuke Demizu^{1 4}

 ¹Division of Organic Chemistry, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki-shi, Kanagawa 210-9501, Japan.

 ²Division of Biochemistry, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki-shi, Kanagawa 210-9501, Japan.

 ³Protein Metabolism Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo 156-8506, Japan.

 ⁴Graduate School of Medical Life Science, Yokohama City University, 1-7-29 Suehirocho, Tsurumi-ku, Yokohama- shi, Kanagawa 230-0045, Japan.

 ⁵Laboratory of Analytical Chemistry, Daiichi University of Pharmacy, 22-1 Tamagawa-machi, Minami-ku, Fukuoka- shi, Fukuoka 815-8511, Japan.

 ⁶Laboratory of Chemical Pharmacology, Daiichi University of Pharmacy, 22-1 Tamagawa-machi, Minami-ku, Fukuoka-shi, Fukuoka 815-8511, Japan.

 ⁷Laboratory of Targeted Protein Degradation, Graduate School of Pharmaceutical Sciences, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.

 PMID: 34652145

 DOI: 10.1021/acs.jmedchem.1c01206

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021) 35. Neurology. 2021 Oct 13;10.1212/WNL.0000000000012910. Online ahead of print.

Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis Jonathan Broomfield¹, Micki Hill², Michela Guglieri³, Michael Crowther⁴, Keith Abrams⁵

 ¹Department of Health Sciences, University of Leicester jb781@le.ac.uk.

 ²Department of Health Sciences, University of Leicester.

 ³Institute of Human Genetics, Newcastle University.

 ⁴Department of Medical Epidemiology and Biostatistics, Karolinska Institute.

 ⁵Centre for Health Economics, University of York.

 PMID: 34645707

 DOI: 10.1212/WNL.0000000000012910

36. J Cardiovasc Magn Reson. 2021 Oct 14;23(1):110. doi: 10.1186/s12968-021-00802-8.

Global, segmental and layer specific analysis of myocardial involvement in Duchenne muscular dystrophy by cardiovascular magnetic resonance native T1 mapping

Ke Xu^{# 1}, Hua-Yan Xu^{# 1}, Rong Xu¹, Lin-Jun Xie¹, Zhi-Gang Yang², Li Yu³, Bin Zhou⁴, Hang Fu¹, Hui Liu⁵, Xiao-Tang Cai^{# 6}, Ying-Kun Guo^{# 7}

 ¹Department of Radiology, Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, 20# Section 3 South Renmin Road, Chengdu, 610041, China.

 ²Department of Radiology, West China Hospital, Sichuan University, Chengdu, China.

 ³Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, China.

 ⁴Laboratory of Molecular Translational Medicine, Center for Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.

 ⁵Department of Radiology, Second Affiliated Hospital of Nanchang University, Nanchang, China.

 ⁶Department of Pediatrics Neurology, West China Second University Hospital, Sichuan University, 20# Section 3 South Renmin Road, Chengdu, 610041, China. cxt_1999@126.com.

 ⁷Department of Radiology, Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, 20# Section 3 South Renmin Road, Chengdu, 610041, China. gykpanda@163.com.

 PMID: 34645467

 DOI: 10.1186/s12968-021-00802-8

Keywords: Cardiomyopathy; Cardiovascular magnetic resonance; Duchenne muscular dystrophy; Native T1 mapping.

Case Reports

37. J Clin Med. 2021 Sep 24;10(19):4370. doi: 10.3390/jcm10194370.

Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology

Marta Simone¹, Lucia Margari¹, Francesco Pompamea¹, Andrea De Giacomo², Alessandra Gabellone¹, Lucia Marzulli¹, Roberto Palumbi²

 ¹Biomedical Sciences and Human Oncology Department, University of Bari "Aldo Moro", 70124 Bari, Italy.

 ²Basic Medical Sciences, Neurosciences, and Sensory Organs Department, University of Bari "Aldo Moro", 70124 Bari, Italy.

 PMID: 34640386

 DOI: 10.3390/jcm10194370

Keywords: autism spectrum disorder; case report; dystrophin; neurobiology; neurodevelopment.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-10-2 du 8 au 21 octobre 2021 (October 8 to 21, 2021) Editorial

38. Neuromuscul Disord. 2021 Sep;31(9):801-802. doi: 10.1016/j.nmd.2021.09.003.

Tamoxifen in Duchenne muscular dystrophy - promising first results Urs Rüegg¹

 ¹Emeritus Professor of Pharmacology, Pharmaceutical Sciences, University of Geneva, 1211 Geneva 4, Switzerland. Electronic address: urs.ruegg@unige.ch.

 PMID: 34635289

 DOI: 10.1016/j.nmd.2021.09.003

Case Reports

39. Acute Crit Care. 2021 Oct 8. doi: 10.4266/acc.2021.00290. Online ahead of print.

Acute perimyocarditis mimicking acute myocardial infarction in a 12-year-old boy with duchenne muscular dystrophy: a case report

Ho Jung Choi¹, Hye Won Kwon¹, Kyung Jin Oh¹, Mi Kyoung Song¹

 ¹Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.

 PMID: 34634842

 DOI: 10.4266/acc.2021.00290

Keywords: Case report; Myocarditis; Pericarditis; ST elevation myocardial infarction.

Case Reports

Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent Anna Annunziata¹, Rosa Cauteruccio¹, Emilio di Costanzo², Giuseppe Fiorentino¹

 ¹Unit of Pathophysiology and Respiratory Rehabilitation, Intensive Care, Department, Azienda Ospedaliera dei Colli, Naples, Italy.

 ²Unit of Anesthesia and Intensive Care, Monaldi Hospital, Azienda dei Colli, Naples, Italy.

 PMID: 34632296

 DOI: 10.36185/2532-1900-055

Keywords: Duchenne muscular dystrophy; NIV treatment; percutaneous endoscopic gastrostomy.

41. Appl Clin Genet. 2021 Oct 1;14:399-408. doi: 10.2147/TACG.S317721. eCollection 2021.

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

Paula Triana-Fonseca¹, Juan Fernando Parada-Márquez¹, Claudia T Silva-Aldana², Daniela Zambrano-Arenas¹, Laura Lucia Arias-Gomez², Natalia Morales-Fonseca³, Esteban Medina-Méndez², Carlos M Restrepo⁴, Daniel Felipe Silgado- Guzmán², Dora Janeth Fonseca-Mendoza⁴

 ¹Facultad de Medicina, Universidad del Bosque, Bogotá, DC, Colombia.

 ²Department of Molecular Diagnosis, Genética Molecular de Colombia SAS, Bogotá, DC, Colombia.

 ³Department of Medicine, Instituto Colombiano de Neurociencias, Bogotá, DC, Colombia.

 ⁴Center for Research in Genetics and Genomics - CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad Del Rosario, Bogotá, DC, Colombia.

 PMID: 34629887

 DOI: 10.2147/TACG.S317721

Keywords: DMD; Duchenne–Becker muscular dystrophy; MLPA; exon skipping; mutation; next-generation sequencing;

target molecular therapy.

42. Brain Dev. 2021 Oct 7;S0387-7604(21)00178-9. doi: 10.1016/j.braindev.2021.09.007. Online ahead of print.

Ankle contractures and functional motor decline in Duchenne muscular dystrophy Angelina L Woof¹, Kathryn Selby², Susan R Harris³