133. Disabil Rehabil . 2021 Oct 31;1-11. doi: 10.1080/09638288.2021.1995057. Online ahead of print.
Validity of Fitbit activity monitoring for adults with progressive muscle diseases Sarah F Roberts-Lewis 1 , Claire M White 1 , Mark Ashworth 1 , Michael R Rose 2
1 School of Population Health and Environmental Sciences, King's College London, London, UK.
2 Neurology Department, King's College Hospital, London, UK.
PMID: 34719329
DOI: 10.1080/09638288.2021.1995057
Keywords: Fitbit; Physical activity; muscular dystrophy; reliability; responsiveness; validity.
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) 134. J Clin Med . 2021 Oct 18;10(20):4777. doi: 10.3390/jcm10204777.
Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
Rossella D'Alessandro 1 , Neftj Ragusa 2 , Martina Vacchetti 1 , Enrica Rolle 1 , Francesca Rossi 1 , Chiara Brusa 1 , Chiara Davico 1 , Benedetto Vitiello 1 , Tiziana Mongini 3 , Federica S Ricci 1
1 Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy.
2 Section of Pediatrics, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy.
3 Neuromuscular Unit, Department of Neurosciences, University of Turin, 10126 Turin, Italy.
PMID: 34682900
PMCID: PMC8537027
DOI: 10.3390/jcm10204777
Keywords: cognitive functioning; motor functioning; neuromuscular disorders.
135. Muscle Nerve . 2021 Oct 28. doi: 10.1002/mus.27449. Online ahead of print.
Utility of phrenic nerve conduction studies for identification of patients with neuromuscular diseases requiring invasive mechanical ventilation
Shinya Narukawa 1 , Keita Ishizuka 1 , Kohei Sugimoto 1 , Kyoichi Nomura 1
1 Department of Neurology, Saitama Medical Center, Saitama Medical University, Saitama, Japan.
PMID: 34708432
DOI: 10.1002/mus.27449
Keywords: Guillain-Barré syndrome; amyotrophic lateral sclerosis; chronic inflammatory demyelinating polyneuropathy;
myotonic dystrophy; phrenic nerve.
Editorial
136. Front Genet . 2021 Oct 18;12:771611. doi: 10.3389/fgene.2021.771611. eCollection 2021.
Editorial: Gene, Cell and Protein Replacement Therapy for Genetic Muscle, Bone and Skin Disorders Holm Schneider 1 , Michele De Luca 2
1 Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
2 Centre for Regenerative Medicine "Stefano Ferrari", University of Modena and Reggio Emilia, Modena, Italy.
PMID: 34733321
PMCID: PMC8558391
DOI: 10.3389/fgene.2021.771611
Keywords: duchenne muscular dystrophy (DMD); ectodermal dysplasia; epidermolysis bullosa; gene therapy; myogenic cell transplantation; protein replacement.
137. 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.
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)
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.
Review
138. Semin Immunopathol . 2021 Oct 27. doi: 10.1007/s00281-021-00895-4. Online ahead of print.
The emerging role of complement in neuromuscular disorders John D Lee 1 , Trent M Woodruff 2 3
1 School of Biomedical Sciences, The University of Queensland, St Lucia, Brisbane, QLD, 4072, Australia.
j.lee9@uq.edu.au.
2 School of Biomedical Sciences, The University of Queensland, St Lucia, Brisbane, QLD, 4072, Australia.
3 Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, QLD, 4072, Australia.
PMID: 34705082
DOI: 10.1007/s00281-021-00895-4
Keywords: Amyotrophic lateral sclerosis; Complement; Membrane attack complex; Myasthenia gravis; Neuromuscular junction.
139. Front Neurol . 2021 Oct 14;12:731865. doi: 10.3389/fneur.2021.731865. eCollection 2021.
Respiratory Muscle Function Tests and Diaphragm Ultrasound Predict Nocturnal Hypoventilation in Slowly Progressive Myopathies
Jens Spiesshoefer 1 2 , Riccarda Lutter 1 , Hans-Joachim Kabitz 3 , Carolin Henke 4 , Simon Herkenrath 5 6 , Winfried Randerath 5 6 , Peter Young 7 , Michael Dreher 2 , Dennis Görlich 8 , Matthias Boentert 1 9
1 Department of Neurology With Institute for Translational Neurology, Muenster University Hospital, Muenster, Germany.
2 Department of Pneumology and Intensive Care Medicine, Aachen University Hospital, Aachen, Germany.
3 Department of Pneumology, Cardiology, and Intensive Care Medicine, Klinikum Konstanz, Konstanz, Germany.
4 Department of Neurology, Herz-Jesu-Krankenhaus Münster-Hiltrup, Münster, Germany.
5 Bethanien Hospital gGmbH Solingen, Solingen, Germany.
6 Institute for Pneumology, University of Cologne, Solingen, Germany.
7 Medical Park Klinik Reithofpark, Bad Feilnbach, Germany.
8 Institute of Biostatistics and Clinical Research, University of Muenster, Muenster, Germany.
9 Department of Medicine, Universitätsklinikum Münster (UKM) Marienhospital, Steinfurt, Germany.
PMID: 34721265
PMCID: PMC8551547
DOI: 10.3389/fneur.2021.731865
Keywords: diaphragm ultrasound; forced vital capacity; maximum inspiratory pressure; myopathy; nocturnal hypoventilation.
140. Muscle Nerve . 2021 Oct 23. doi: 10.1002/mus.27446. Online ahead of print.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
Chiara Gemelli # 1 , Monica Traverso # 2 , Lucia Trevisan 1 , Sabrina Fabbri 1 , Elena Scarsi 1 , Barbara Carlini 3 , Valeria Prada 1 , Tiziana Mongini 4 , Lucia Ruggiero 5 , Serena Patrone 1 , Salvatore Gallone 6 , Rosa Iodice 5 , Livia Pisciotta 7 , Federico Zara 8 , Paola Origone 9 , Eugenia Rota 10 , Carlo Minetti 11 , Claudio Bruno 12 , Angelo Schenone 13 , Paola Mandich 9 , Chiara Fiorillo # 11 , Marina Grandis # 13
1 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Genova, Italy.
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)
2 Paediatric Neurology and Muscular Diseases Unit, IRCCS G. Gaslini Institute, Genoa, Italy.
3 Unit of Medical Genetics IRCCS G. Gaslini Institute, Genoa, Italy.
4 Neuromuscular Unit, Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino, Italy.
5 Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Università degli Studi di Napoli
"Federico II,", Napoli, Italy.
6 Neurogenetic Service, department of Neurosciences, AOU Città della salute e della scienza, Torino, Italy.
7 Department of Internal Medicine, University of Genoa, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
8 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Unit of Medical Genetics IRCCS G. Gaslini Institute, Genoa, Italy.
9 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Unit of Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
10 Neurology Unit, ASL Alessandria (AL), Novi Ligure, AL, Italy.
11 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Pediatric Neurology and Muscular Diseases Unit, IRCCS G. Gaslini Institute, Genoa, Italy.
12 Centre of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
13 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Unit of Neurology, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
PMID: 34687225
DOI: 10.1002/mus.27446
Keywords: creatine kinase; diagnostic workflow; hyperCKemia; muscle disease; next-generation sequencing.
141. Healthcare (Basel) . 2021 Sep 30;9(10):1306. doi: 10.3390/healthcare9101306.
A Machine-Learning Method of Predicting Vital Capacity Plateau Value for Ventilatory Pump Failure Based on Data Mining
Wenbing Chang 1 , Xinpeng Ji 1 , Liping Wang 2 , Houxiang Liu 1 , Yue Zhang 1 , Bang Chen 1 , Shenghan Zhou 1
1 School of Reliability and Systems Engineering, Beihang University, Beijing 100191, China.
2 Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
PMID: 34682985
PMCID: PMC8544367
DOI: 10.3390/healthcare9101306
Keywords: LightGBM; RFECV; biomedical engineering; disease prediction; ventilatory pump failure; vital capacity plateau value.
142. Diagnostics (Basel) . 2021 Sep 23;11(10):1747. doi: 10.3390/diagnostics11101747.
3D Automated Segmentation of Lower Leg Muscles Using Machine Learning on a Heterogeneous Dataset
Marlena Rohm 1 2 , Marius Markmann 1 , Johannes Forsting 1 , Robert Rehmann 1 3 , Martijn Froeling 4 , Lara Schlaffke 1 2
1 Department of Neurology, BG-University Hospital Bergmannsheil gGmbH, Ruhr-University Bochum, 44789 Bochum, Germany.
2 Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil gGmbH, 44789 Bochum, Germany.
3 Department of Neurology, Klinikum Dortmund, University Witten-Herdecke, 44137 Dortmund, Germany.
4 Department of Radiology, University Medical Centre Utrecht, 3584 Utrecht, The Netherlands.
PMID: 34679445
PMCID: PMC8534967
DOI: 10.3390/diagnostics11101747
Keywords: machine learning; muscle segmentation; qMRI.
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)
Divers – Miscellaneous
Review
143. Front Mol Neurosci . 2021 Oct 6;14:695937. doi: 10.3389/fnmol.2021.695937. eCollection 2021.
Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord
Thomas Leth Jensen 1 , Casper René Gøtzsche 2 , David P D Woldbye 2
1 Department of Neurology, Rigshospitalet University Hospital, Copenhagen, Denmark.
2 Department of Neuroscience, University of Copenhagen,Copenhagen, Denmark.
PMID: 34690692
PMCID: PMC8527017
DOI: 10.3389/fnmol.2021.695937
Keywords: central nervous system; clinical trials; gene therapy; personalized medicine; rare diseases; spinal cord; spinal muscular atrophy; viral vectors.
Review
144. Front Genome Ed . 2021 Jan 20;2:609650. doi: 10.3389/fgeed.2020.609650. eCollection 2020.
Targeted Gene Delivery: Where to Land Giulia Pavani 1 , Mario Amendola 1
1 INTEGRARE, UMR_S951, Genethon, Inserm, Univ Evry, Univ Paris-Saclay, Evry, France.
PMID: 34713234
PMCID: PMC8525409
DOI: 10.3389/fgeed.2020.609650 Erratum in
Corrigendum: Targeted Gene Delivery: Where to Land.
Pavani G, Amendola M. Front Genome Ed. 2021 May 17;3:682171. doi: 10.3389/fgeed.2021.682171. eCollection 2021.
PMID: 34714297
Keywords: CRISPR; gene therapy; genome editing; homologous recombination (HR); knock-in; nuclease; safe harbor;
targeted integration (TI).
Published Erratum
145. Front Genome Ed . 2021 May 17;3:682171. doi: 10.3389/fgeed.2021.682171. eCollection 2021.
Corrigendum: Targeted Gene Delivery: Where to Land Giulia Pavani 1 , Mario Amendola 1
1 INTEGRARE, UMR_S951, Genethon, Inserm, Univ Evry, Univ Paris-Saclay, Evry, France.
PMID: 34714297
PMCID: PMC8525382
DOI: 10.3389/fgeed.2021.682171
Keywords: CRISPR; gene therapy; genome editing; homologous recombination (HR); knock-in; nuclease; safe harbor;
targeted integration (TI).
Erratum for
Targeted Gene Delivery: Where to Land.
Pavani G, Amendola M. Front Genome Ed. 2021 Jan 20;2:609650. doi: 10.3389/fgeed.2020.609650. eCollection 2020.
PMID: 34713234 Free PMC article. Review.
146. Front Cell Dev Biol . 2021 Oct 5;9:721543. doi: 10.3389/fcell.2021.721543. eCollection 2021.
Stimulation of Non-canonical NF-κB Through Lymphotoxin-β-Receptor Impairs Myogenic Differentiation and Regeneration of Skeletal Muscle
Manuel Schmidt 1 , Anja Weidemann 1 , Christine Poser 1 , Anne Bigot 2 , Julia von Maltzahn 1
1 Leibniz Institute on Aging, Fritz Lipmann Institute, Jena, Germany.
2 Center of Research in Myology-UMRS 974, Institute of Myology, INSERM, Sorbonne Université, Paris, France.
PMID: 34676210
PMCID: PMC8523804
DOI: 10.3389/fcell.2021.721543
Keywords: LTβR; NF-kappa B; NF-κB; lymphotoxin-β-receptor; muscle stem cell; myogenic differentiation; regeneration;
satellite cell.
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) Case Reports
147. Hum Hered . 2021 Oct 27;1-6. doi: 10.1159/000519356. Online ahead of print.
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases
Karishma Mahtani 1 , Diana Park 2 , Jessica Abbott 2 , Pavalan Panneer Selvam 2 , Paldeep S Atwal 2
1 Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA, ha18256@qmul.ac.uk.
2 Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.
PMID: 34706366
DOI: 10.1159/000519356
Keywords: Birt-Hogg-Dubé syndrome; CDC73-related primary hyperparathyroidism; Familial prostate cancer; Family history; Fibrofolliculoma; Oculopharyngeal muscular dystrophy; Ptosis; RRM2B-related mitochondrial disease; Whole exome sequencing.
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)
Certaines références présentées par maladies sont triées ci-dessous par spécialités.
Some of citations presented by diseases are sorted below by specialties.