J Comp Eff Res. 2021 Nov 18. doi: 10.2217/cer-2021-0196. Online ahead of print.
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients
Craig M McDonald 1, Francesco Muntoni 2 3, Vinay Penematsa 4, Joel Jiang 4, Allan Kristensen 4, Francesco
Bibbiani 4, Elizabeth Goodwin 4, Heather Gordish-Dressman 5, Lauren Morgenroth 6, Christian Werner 7, James Li 4, Richard Able 4, Panayiota Trifillis 4, Már Tulinius 8, Study 019 investigators
• 1Department of Pediatrics, University of California Davis School of Medicine, Davis, CA, USA.
• 2Dubowitz Neuromuscular Centre & MRC Centre for Neuromuscular Diseases, University College London, Institute of Child Health & Great Ormond Street Hospital for Children Foundation Trust, London, UK.
• 3NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK.
• 4PTC Therapeutics, South Plainfield, NJ, USA.
• 5Center for Genetic Medicine, Children's National Health System & the George Washington, Washington, DC, USA.
• 6Therapeutic Research in Neuromuscular Disorders Solutions, Pittsburgh, PA, USA.
• 7PTC Therapeutics Germany GmbH, Frankfurt, Germany.
• 8Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden.
• PMID: 34791888
• DOI: 10.2217/cer-2021-0196
Keywords: Study 019; ataluren; dystrophin; efficacy; loss of ambulation; nonsense mutation Duchenne muscular dystrophy;
respiratory function.
Review
Cochrane Database Syst Rev. 2021 Nov 8;11(11):CD013720. doi: 10.1002/14651858.CD013720.pub2.
Antioxidants to prevent respiratory decline in people with Duchenne muscular dystrophy and progressive respiratory decline
Luis Garegnani 1, Martin Hyland 2, Pablo Roson Rodriguez 3, Camila Micaela E Escobar Liquitay 4, Juan Va Franco 1
• 1Associate Cochrane Centre, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
• 2Paediatric Neurology Division - Paediatrics Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
• 3Research Department, Instituto Universitario Hospital Italiano, Buenos Aires, Argentina.
• 4Central Library, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
• PMID: 34748221
• PMCID: PMC8574769 (available on 2022-11-08)
• DOI: 10.1002/14651858.CD013720.pub2
Rev Med Suisse. 2021 Nov 17;17(759):1962-1966.
[Diaphragmatic assessment by ultrasonography]
[Article in French]
Aileen Kharat 1, Jérôme Plojoux 1
• 1Service de pneumologie, Département de médecine, Hôpitauxl universitaires de Genève, HUG, et Université de Genève, 1211 Genève 14.
• PMID: 34787969
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 69/71
Neuromuscul Disord. 2021 Aug 20;S0960-8966(21)00612-X. Online ahead of print.
Predictors of outcome in patients with myasthenic crisis undergoing non-invasive mechanical ventilation: A retrospective 20 year longitudinal cohort study from a single Italian center
Erika Iori 1, Marco Mazzoli 1, Alessandra Ariatti 1, Elisabetta Bastia 2, Virginia Agnoletto 2, Manuela Gozzi 3, Alessandro Marchioni 4, Giuliana Galassi 5
• 1Department of Biomedical, Metabolic and Neural Sciences University Hospital, Modena, Italy.
• 2Division of Cardiology, Baggiovara Hospital, Modena, Italy.
• 3Department of Imaging, University Hospitals of Modena, Italy.
• 4Respiratory Disease Unit, Department of Medical and Surgical Sciences, University Hospitals of Modena, Italy.
• 5Department of Biomedical, Metabolic and Neural Sciences University Hospital, Modena, Italy. Electronic address:
giulianagalassi@alice.it.
• PMID: 34782245
• DOI: 10.1016/j.nmd.2021.08.008
Keywords: Extubation failure; Invasive ventilation; Myasthenic crisis; Non-invasive ventilation; Tracheostomy.
Intern Med. 2021 Nov 13. doi: 10.2169/internalmedicine.8314-21. Online ahead of print.
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure Mizuki Ito 1 2, Sayuri Shima 1, Nagao Ryunosuke 1, Shoko Nakano 1, Konoka Esaka 1, Akihiro Ueda 1, Shingo Maeda 3, Ryoma Moriya 3, Masashi Kondo 3, Kazuyoshi Imaizumi 3, Seiya Noda 4 5, Masahisa Katsuno 4, Ichizo Nishino 6, Hirohisa Watanabe 1
• 1Department of Neurology, Fujita Health University, School of Medicine, Japan.
• 2Department of Neurology, Fujita Health University Bantane Hospital, Japan.
• 3Department of Respiratory Medicine, Fujita Health University, School of Medicine, Japan.
• 4Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
• 5Department of Neurology, National Hospital Organization Suzuka Hospital, Japan.
• 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.
• PMID: 34776486
• DOI: 10.2169/internalmedicine.8314-21
Keywords: Nemaline myopathy; nebulin; respiratory muscle paralysis; right heart failure; type 2 respiratory failure.
BMC Pulm Med. 2021 Nov 14;21(1):370. doi: 10.1186/s12890-021-01737-7.
Interstitial lung disease is a dominant feature in patients with circulating myositis-specific antibodies Abhinav K Misra 1, Nathan L Wong 2, Terrance T Healey 3, Edward V Lally 4, Barry S Shea 5
• 1Division of Pulmonary, Critical Care and Sleep Medicine, Rhode Island Hospital and Alpert Medical School of Brown University, 593 Eddy Street, POB 224, Providence, RI, 02903, USA.
• 2Department of Medicine, Rhode Island Hospital and Alpert Medical School of Brown University, Providence, RI, USA.
• 3Department of Diagnostic Imaging, Rhode Island Hospital and Alpert Medical School of Brown University, Providence, RI, USA.
• 4Division of Rheumatology, Rhode Island Hospital and Alpert Medical School of Brown University, Providence, RI, USA.
• 5Division of Pulmonary, Critical Care and Sleep Medicine, Rhode Island Hospital and Alpert Medical School of Brown University, 593 Eddy Street, POB 224, Providence, RI, 02903, USA. bsshea@mgh.harvard.edu.
• PMID: 34775966
• PMCID: PMC8591876
• DOI: 10.1186/s12890-021-01737-7
Keywords: Dermatomyositis; Interstitial lung disease; Myositis-specific antibodies; Polymyositis.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 70/71
Case Reports
Neurol India. Sep-Oct 2021;69(5):1391-1393. doi: 10.4103/0028-3886.329582.
Polymyositis Presenting with Respiratory Symptoms
Yashpal Singh 1, Sanghamitra Laskar 1, Manish Mittal 1, Nadia Shirazi 2, Sumit Gupta 3
• 1Department of Neurology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.
• 2Department of Pathology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.
• 3Department of Medicine, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.
• PMID: 34747820
• DOI: 10.4103/0028-3886.329582
Keywords: Interstial lung Disease (ILD); myasthenia gravis; polymyositis; weakness.
Intern Med. 2021 Nov 13. doi: 10.2169/internalmedicine.8311-21. Online ahead of print.
A Case of Anti-MDA-5 Antibody-positive Dermatomyositis with Rapidly Progressive Interstitial Pneumonia Presenting with Nephrotic Syndrome during Treatment with Corticosteroids and Cyclosporine
Shinya Kawamoto 1, Toshihiro Abe 1, Katsuhiro Nagahori 1, Atsunori Yoshino 1, Akiko Fujii 2, Yuko Ono 2, Yoshihiko Ueda 2, Tetsuro Takeda 1
• 1Department of nephrology, Dokkyo Medical University, Saitama Medical Center, Japan.
• 2Department of Pathology, Dokkyo Medical University, Saitama Medical Center, Japan.
• PMID: 34776485
• DOI: 10.2169/internalmedicine.8311-21
Keywords: anti-MDA5 antibody-positive dermatomyositis; cyclosporine; nephrotic syndrome; rapidly progressive interstitial pneumonia; thrombotic microangiopathy.
J Clin Med. 2021 Oct 21;10(21):4830. doi: 10.3390/jcm10214830.
Interstitial Lung Disease in Connective Tissue Diseases: Survival Patterns in a Population-Based Cohort
Charlotte Hyldgaard 1, Elisabeth Bendstrup 2, Alma Becic Pedersen 3, Lars Pedersen 3, Torkell Ellingsen 1 4
• 1Diagnostic Centre, Silkeborg Regional Hospital, University Clinic for Innovative Patient Pathways, Aarhus University, 8600 Silkeborg, Denmark.
• 2Centre for Rare Lung Diseases, Department of Respiratory Diseases and Allergy, Aarhus University Hospital, 8200 Aarhus, Denmark.
• 3Department of Clinical Epidemiology, Aarhus University Hospital, 8200 Aarhus, Denmark.
• 4Rheumatology Research Unit, Odense University Hospital, University of Southern Denmark, 5000 Odense, Denmark.
• PMID: 34768349
• PMCID: PMC8584507
• DOI: 10.3390/jcm10214830
Keywords: clinical epidemiology; connective tissue disease; interstitial lung disease; pulmonary hypertension; rare lung disease.
Case Reports
Case Rep Rheumatol. 2021 Oct 29;2021:6097183. doi: 10.1155/2021/6097183. eCollection 2021.
Spontaneous Pneumomediastinum due to Anti-Melanoma Differentiation-Associated Protein 5 Requiring a Bilateral Lung Transplant
Amrit Singh Jhajj 1, James Hok Shun Yeung 2, Fergus To 2
• 1Department of Medicine, University of British Columbia, Vancouver, Canada.
• 2Division of Rheumatology, University of British Columbia, Vancouver, Canada.
• PMID: 34745682
• PMCID: PMC8570881
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 71/71
• DOI: 10.1155/2021/6097183
Case Reports
Turk J Pediatr. 2021;63(5):903-908. doi: 10.24953/turkjped.2021.05.018.
A fatal interstitial lung disease in an anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody negative patient with juvenile dermatomyositis
Osman Yeşilbaş 1, Mehmet Yıldız 2, Can Yılmaz Yozgat 3, Irmak Tahaoğlu 4, Hakan Yazan 5, Erkan Çakır 5, Amra Adrovic 2, Sezgin Şahin 2, Kenan Barut 2, Özgür Kasapçopur 2
• 1Departments of Pediatric Critical Care Medicine, Bezmialem Vakıf University Faculty of Medicine, İstanbul.
• 2Department of Pediatric Rheumatology, İstanbul University Cerrahpaşa Medical School, İstanbul, Turkey.
• 3Departments of Medical Student, Bezmialem Vakıf University Faculty of Medicine, İstanbul.
• 4Departments of Pediatrics, Bezmialem Vakıf University Faculty of Medicine, İstanbul.
• 5Departments of Pediatric Pulmonology, Bezmialem Vakıf University Faculty of Medicine, İstanbul.
• PMID: 34738372
• DOI: 10.24953/turkjped.2021.05.018
Keywords: anti-melanoma differentiation associated gene 5; child; interstitial lung disease; juvenile dermatomyositis;
rapidly progressive interstitial lung disease.
Eur J Case Rep Intern Med. 2021 Oct 18;8(10):002860. doi: 10.12890/2021_002860. eCollection 2021.
Skin Rash and Interstitial Pneumonia Can Be a Fatal Combination: A Rare Case of Anti-Melanoma Differentiation-Associated Gene 5 (MDA5)-Associated Interstitial Lung Disease
Giorgia Borio 1, Chiara Terracciano 2, Federico Buttafava 3, Andrea Vercelli 1, Laura Pagani 1, Chiara Zanzani 4, Alessandra Manicardi 4, Andrea Magnacavallo 1, Erika Poggiali 1
• 1Emergency Department, Guglielmo da Saliceto Hospital, Piacenza, Italy.
• 2Neurology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy.
• 3Intensive Care Unit, IRCCS San Matteo di Pavia, Italy.
• 4Intensive Care Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy.
• PMID: 34790630
• PMCID: PMC8592657
• DOI: 10.12890/2021_002860
Keywords: MDA5-associated dermatomyositis; MDA5-associated interstitial lung disease; dyspnoea; interstitial pneumonia.