Anatomopathologie – Anatomical pathology

Ann Clin Transl Neurol . 2021 Nov 2. doi: 10.1002/acn3.51450. Online ahead of print.

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies

Eleonora Guadagnin ¹ , Payam Mohassel ¹ , Kory R Johnson ² , Lin Yang ³ , Mariarita Santi ⁴ , Prech Uapinyoying ^{1 5} , Jahannaz Dastgir ^{1 6} , Ying Hu ¹ , Allissa Dillmann ⁷ , Mark R Cookson ⁷ , A Reghan Foley ¹ , Carsten G Bönnemann ¹

 ¹ Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, BLDG 35 RM 2A116, Bethesda, Maryland, 20892, USA.

 ² Bioinformatics Section, Intramural Information Technology & Bioinformatics Program, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, BG 10 RM 5S223, Bethesda, Maryland, 20892, USA.

 ³ Division of Biomedical Informatics, Department of Biomedical Engineering, University of Florida, 1064 Center Drive, NEB 364, Gainsville, Florida, 32611, USA.

 ⁴ Department of Pathology, Children's Hospital of Philadelphia, 324 South 34th Street, Philadelphia, Pennsylvania, 19104, USA.

 ⁵ Center for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.

 ⁶ Atlantic Health System, Goryeb Children's Hospital, Morristown, New Jersey, USA.

 ⁷ Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, 35 Convent Drive, BG 35 RM 1A116, Bethesda, Maryland, 20892, USA.

 PMID: 34729958

 DOI: 10.1002/acn3.51450

Front Neurol . 2021 Oct 5;12:735488. doi: 10.3389/fneur.2021.735488. eCollection 2021.

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

Marco Veneruso ¹ , Chiara Fiorillo ^{1 2} , Paolo Broda ² , Serena Baratto ³ , Monica Traverso ² , Alice Donati ⁴ , Salvatore Savasta ⁵ , Raffaele Falsaperla ⁶ , Maria Margherita Mancardi ⁷ , Marina Pedemonte ² , Chiara Panicucci ³ , Gianluca Piatelli ⁸ , Mattia Pacetti ⁸ , Andrea Moscatelli ⁹ , Luca Antonio Ramenghi ¹⁰ , Lino Nobili ^{1 6} , Carlo Minetti ^{1 2} , Claudio Bruno ^{1 3}

 ¹ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

 ² Paediatric Neurology and Neuromuscular Disorders Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 ³ Center of Translational and Experimental Myology, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 ⁴ Metabolic and Neuromuscular Unit, A. Meyer Children's Hospital, Florence, Italy.

 ⁵ Pediatric Clinic, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.

 ⁶ Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria San Marco-Policlinico, University of Catania, Catania, Italy.

 ⁷ Child Neuropsychiatry Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 ⁸ Unit of Neurosurgery, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 ⁹ Neonatal and Pediatric Intensive Care Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 ¹⁰ Neonatal Intensive Care Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

 PMID: 34675869

 PMCID: PMC8523832

 DOI: 10.3389/fneur.2021.735488

Keywords: congenital myopathy; floppy infant; genetic outcome; muscle biopsy; muscular dystrophy.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

Cardiologie – Cardiology

Biomedicines . 2021 Oct 5;9(10):1400. doi: 10.3390/biomedicines9101400.

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

Andreas Brodehl ¹ , Carsten Hain ² , Franziska Flottmann ¹ , Sandra Ratnavadivel ¹ , Anna Gaertner ¹ , Bärbel Klauke ^{1 3} , Jörn Kalinowski ² , Hermann Körperich ⁴ , Jan Gummert ^{1 5} , Lech Paluszkiewicz ⁵ , Marcus-André Deutsch ⁵ , Hendrik Milting ¹

 ¹ Heart and Diabetes Center NRW, Erich and Hanna Klessmann Institute, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, D-32545 Bad Oeynhausen, Germany.

 ² Microbial Genomics and Biotechnology, Center for Biotechnology, Bielefeld University, D-33615 Bielefeld, Germany.

 ³ Clinic for General and Interventional Cardiology/Angiology, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, D-32545 Bad Oeynhausen, Germany.

 ⁴ Heart and Diabetes Center NRW, Institute for Radiology, Nuclear Medicine and Molecular Imaging, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, D-32545 Bad Oeynhausen, Germany.

 ⁵ Heart and Diabetes Center NRW, Department of Thoracic and Cardiovascular Surgery, University Hospital Ruhr-University Bochum, Georgstrasse 11, D-32545 Bad Oeynhausen, Germany.

 PMID: 34680517

 PMCID: PMC8533191

 DOI: 10.3390/biomedicines9101400

Keywords: cardiovascular genetics; desmin; desmosomes; intermediate filaments; restrictive cardiomyopathy; skeletal myopathy.

Review

Card Electrophysiol Clin . 2021 Dec;13(4):721-740. doi: 10.1016/j.ccep.2021.06.011.

Systemic Diseases and Heart Block Syed Rafay A Sabzwari ¹ , Wendy S Tzou ²

 ¹ University of Colorado Anschutz Medical Campus, 12631 East 17th Avenue, Mail Stop B130, Aurora, CO 80045, USA.

 ² Cardiac Electrophysiology, University of Colorado Anschutz Medical Campus, 12401 E 17th Avenue, MS B-136, Aurora, CO 80045, USA. Electronic address: Wendy.Tzou@cuanschutz.edu.

 PMID: 34689899

 DOI: 10.1016/j.ccep.2021.06.011

Keywords: Amyloidosis; Atrioventricular node; Heart block; Muscular dystrophies; Rheumatologic disorders; Sarcoidosis;

Systemic lupus erythematosus; Thyroid disorders.

Circulation . 2021 Oct 26. doi: 10.1161/CIRCULATIONAHA.121.054628. Online ahead of print.

Therapeutic Exon Skipping via a CRISPR-guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo

Jia Li ¹ , Kaiying Wang ¹ , Yuchen Zhang ¹ , Tuan Qi ² , Juanjuan Yuan ³ , Lei Zhang ¹ , Han Qiu ⁴ , Jinxi Wang ⁵ , Huang-Tian Yang ⁵ , Yi Dai ⁶ , Yan Song ⁷ , Xing Chang ¹

 ¹ Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Joint Research Center of Hangzhou First Hospital Group and Westlake University, Westlake University, Hangzhou, Zhejiang, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ² Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai, 200031, China; Joint Research Center of Hangzhou First Hospital Group and Westlake University, Westlake University, Hangzhou, Zhejiang, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ³ Shunde Hospital, Southern Medical University (The First People 's Hospital of Shunde), Foshan City, Guangdong Province, 528308, China.

 ⁴ Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China; Center for Infectious Disease Research, Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China; Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde), Foshan City, Guangdong Province, 528308, China; CAS Key Laboratory of

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

 ⁵ CAS Key Laboratory of Tissue Microenvironment and Tumor, Laboratory of Molecular Cardiology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

 ⁶ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100730, China.

 ⁷ Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA.

 PMID: 34698513

 DOI: 10.1161/CIRCULATIONAHA.121.054628

Curr Issues Mol Biol . 2021 Sep 25;43(3):1267-1281. doi: 10.3390/cimb43030090.

Renadirsen, a Novel 2'OMeRNA/ENA ^® Chimera Antisense Oligonucleotide, Induces Robust Exon 45 Skipping for Dystrophin In Vivo

Kentaro Ito ¹ , Hideo Takakusa ² , Masayo Kakuta ³ , Akira Kanda ¹ , Nana Takagi ⁴ , Hiroyuki Nagase ¹ , Nobuaki Watanabe ² , Daigo Asano ² , Ryoya Goda ² , Takeshi Masuda ⁵ , Akifumi Nakamura ⁵ , Yoshiyuki Onishi ⁵ , Toshio Onoda ⁶ , Makoto Koizumi ⁵ , Yasuhiro Takeshima ⁷ , Masafumi Matsuo ⁸ , Kiyosumi Takaishi ¹

 ¹ Specialty Medicine Research Laboratories I, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1408710, Japan.

 ² Drug Metabolism and Pharmacokinetics Research Laboratories, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1408710, Japan.

 ³ Medical Information Department, Daiichi Sankyo Co., Ltd., Chuo, Tokyo 1038426, Japan.

 ⁴ Safety and Risk Management Department, Daiichi Sankyo Co., Ltd., Chuo, Tokyo 1038426, Japan.

 ⁵ Modality Research Laboratories, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1409710, Japan.

 ⁶ Intellectual Property Department, Daiichi Sankyo Co., Ltd., Shinagawa, Tokyo 1409710, Japan.

 ⁷ Department of Pediatrics, Hyogo College of Medicine, Nishinomiya 6638501, Japan.

 ⁸ Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.

 PMID: 34698059

 DOI: 10.3390/cimb43030090

Keywords: 2′-O,4′-C-ethylene-bridged nucleic acid (ENA); Duchenne muscular dystrophy; antisense oligonucleotide;

cardiac muscle; dystrophin; exon skipping; renadirsen sodium.

Muscle Nerve . 2021 Oct 30. doi: 10.1002/mus.27451. Online ahead of print.

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients Madoka Mori-Yoshimura ¹ , Ayano Kimura ² , Ayumi Tsuru ³ , Hiroyuki Yajima ⁴ , Kazuhiko Segawa ⁵ , Katsuhiro Mizuno ⁴ , Yasushi Oya ¹ , Satoru Noguchi ⁶ , Ichizo Nishino ⁶ , Yuji Takahashi ¹

 ¹ Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

 ² Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

 ³ Department of Psychiatry, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

 ⁴ Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

 ⁵ Department of Cardiology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

 ⁶ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

 PMID: 34716939

 DOI: 10.1002/mus.27451

Keywords: GNE myopathy; cardiac complication; platelet-associated IgG; sleep apnea syndrome; thrombocytopenia.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) Rheumatology (Oxford) . 2021 Oct 29;keab805. doi: 10.1093/rheumatology/keab805. Online ahead of print.

Body composition in longstanding juvenile dermatomyositis; Associations with disease activity, muscle strength and cardiometabolic measures

Birgit Nomeland Witczak ¹ , Jens Bollerslev ^{2 3} , Kristin Godang ³ , Thomas Schwartz ^{1 4} , Berit Flatø ^{2 5} , Øyvind Molberg ^{2 5} , Ivar Sjaastad ^{1 6} , Helga Sanner ^{4 5}

 ¹ Institute for Experimental Medical Research and KG Jebsen center for cardiac research, Oslo University Hospital-Ullevål, and University of Oslo, Oslo, Norway.

 ² Institute for Clinical Medicine, Medical Faculty, University of Oslo, Oslo, Norway.

 ³ Section of Specialized Endocrinology, Department of Endocrinology, Preventive Medicine and Morbid Obesity, Oslo University Hospital Rikshospitalet, Oslo, Norway.

 ⁴ Bjørknes University College, Oslo, Norway.

 ⁵ Department of Rheumatology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.

 ⁶ Department of Cardiology, Oslo University Hospital-Ullevål, Oslo, Norway.

 PMID: 34718443

 DOI: 10.1093/rheumatology/keab805

Keywords: body composition; cardiometabolic; central fat distribution; health-related quality of life; juvenile dermatomyositis; muscle strength.