Gastroentérologie / Nutrition – Gastroenterology / Nutrition

Front Neurol . 2021 Oct 12;12:694966. doi: 10.3389/fneur.2021.694966. eCollection 2021.

Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy Yuqing Guan¹, Yanxia Zhang², Xin-Ming Shen³, Liang Zhou¹, Xuan Shang², Yu Peng¹, Yafang Hu¹, Wei Li¹

 ¹ Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

 ² Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

 ³ Department of Neurology, Mayo Clinic, Rochester, MN, United States.

 PMID: 34712195

 PMCID: PMC8546186

 DOI: 10.3389/fneur.2021.694966

Keywords: Charcot-Marie-Tooth disease; HADHB; mitochondrial trifunctional protein deficiency; peripheral neuropathy;

rhabdomyolysis.

Imagerie médicale – Medical imaging

Neuromuscul Disord . 2021 Sep 23;S0960-8966(21)00652-0. Online ahead of print.

Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy

Dandan Tan¹, Lin Ge¹, Yanbin Fan¹, Cuijie Wei¹, Haipo Yang¹, Aijie Liu¹, Jiangxi Xiao², Hui Xiong³, Ying Zhu⁴

 ¹ Department of Pediatrics, Peking University First Hospital, No.1 Xi'an Men Street, West District, Beijing 100034, China.

 ² Department of Radiology, Peking University First Hospital, No.8 Xishiku Street, West District, Beijing 100034, China.

 ³ Department of Pediatrics, Peking University First Hospital, No.1 Xi'an Men Street, West District, Beijing 100034, China. Electronic address: xh_bjbj@163.com.

 ⁴ Department of Radiology, Peking University First Hospital, No.8 Xishiku Street, West District, Beijing 100034, China. Electronic address: iamzhu@126.com.

 PMID: 34702656

 DOI: 10.1016/j.nmd.2021.09.006

Keywords: Autosomal recessive limb-girdle muscular dystrophy-23; Congenital muscular dystrophy type 1A; Fatty infiltration; LAMA2-related muscular dystrophy; Muscle magnetic resonance imaging.

Sci Rep . 2021 Nov 2;11(1):21535. doi: 10.1038/s41598-021-00819-0.

Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients

Hyun Su Kim^{# 1}, Ji Hyun Lee^{# 1}, Young Cheol Yoon¹, Min Jae Cha², Soo Hyun Nam³, Hye Mi Kwon³, Seonwoo Kim⁴, Hojeong Won⁴, Byung-Ok Choi^{5 6}

 ¹ Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

 ² Department of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, South Korea.

 ³ Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

 ⁴ Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

 ⁵ Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. bochoi@skku.edu.

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)

 ⁶ Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea.

bochoi@skku.edu.

 PMID: 34728674

 PMCID: PMC8563983

 DOI: 10.1038/s41598-021-00819-0

Neurotherapeutics . 2021 Oct 27. doi: 10.1007/s13311-021-01141-3. Online ahead of print.

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

Natalie Winter¹, Debora Vittore¹, Burkhard Gess², Jörg B Schulz^{2 3}, Alexander Grimm⁴, Maike F Dohrn^{2 5}

 ¹ Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

 ² Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.

 ³ JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Jülich Aachen Research Alliance (JARA), FZ Jülich and RWTH University, Jülich, Germany.

 ⁴ Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. alexander.grimm@med.uni-tuebingen.de.

 ⁵ Department of Human Genetics and John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation, University of Miami, Miller School of Medicine, Miami, FL, USA.

 PMID: 34708324

 DOI: 10.1007/s13311-021-01141-3

Keywords: Charcot-Marie-Tooth disease; Entrapment; Hereditary transthyretin-amyloidosis; High-resolution nerve ultrasound; Muscle ultrasound; Ultrasound pattern sum score.

Front Med (Lausanne) . 2021 Oct 7;8:728487. doi: 10.3389/fmed.2021.728487. eCollection 2021.

The Value of Effective Lung Ventilation Area Ratio Based on CT Image Analysis Is a New Index to Predict the Shorter Outcome of Anti-melanoma Differentiation-Associated Protein 5 Positive Dermatomyositis Associated Interstitial Lung Disease: A Single-Center Retrospective Study Changjian Wang¹, Jinfeng Du², Xilong Mei³, Lingchao Guo¹, Fangzhao Li¹, Hong Luo⁴, Fen Li²

 ¹ College of Computer, National University of Defense Technology, Changsha, China.

 ² Department of Rheumatology and Immunology, The Second Xiangya Hospital of Central South University, Changsha, China.

 ³ Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, China.

 ⁴ Department of Respiratory and Critical Care Medicine, The Second Xiangya Hospital of Central South University, Changsha, China.

 PMID: 34692722

 PMCID: PMC8529150

 DOI: 10.3389/fmed.2021.728487

Keywords: anti-melanoma differentiation-associated protein 5 antibody; computer-aided image analysis; dermatomyositis;

effective lung ventilation area ratio; interstitial lung disease; prognosis.

Neuromuscul Disord . 2021 Aug 5;S0960-8966(21)00584-8. Online ahead of print.

Whole-body muscle MRI in McArdle disease

David Tobaly¹, Pascal Laforêt², Tanya Stojkovic³, Anthony Behin⁴, Francois Michael Petit⁵, Andrea Barp⁶, Luca Bello⁶, Pierre Carlier⁷, Robert-Yves Carlier⁸

 ¹ APHP, Service de Radiologie GH Université Paris-Saclay DMU Smart Imaging, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches 94400, France. Electronic address: davtoba@gmail.com.

 ² APHP, Service de Radiologie GH Université Paris-Saclay DMU Smart Imaging, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches 94400, France; AP-HP, Service de Neurologie, GH Université Paris-Saclay, DMU Neuro-Handicap, Hôpital Raymond-Poincaré, Garches, France; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France.

 ³ AP-HP, Hôpital Pitié-Salpêtrière, Paris 75013, France.

 ⁴ Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France.

 ⁵ APHP, Laboratoire de Génétique Moléculaire, Université Paris Saclay, Hôpital Antoine Béclère, Clamart 92140, France.

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)

 ⁶ Neurosciences Department (DNS), University of Padova, Padova, Italy.

 ⁷ AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France.

 ⁸ APHP, Service de Radiologie GH Université Paris-Saclay DMU Smart Imaging, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches 94400, France; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France; UMR 1179, Université Versailles Saint Quentin en Yvelines, Paris Saclay, France.

 PMID: 34711478

 DOI: 10.1016/j.nmd.2021.07.397

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 Markmann¹, Johannes Forsting¹, Robert Rehmann^{1 3}, Martijn Froeling⁴, 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.

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 Lutter¹, Hans-Joachim Kabitz³, Carolin Henke⁴, Simon Herkenrath^{5 6}, Winfried Randerath^{5 6}, Peter Young⁷, Michael Dreher², Dennis Görlich⁸, 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.

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)

Médecine physique et de réadaptation – Physical and rehabilitation medicine

Ann Phys Rehabil Med . 2021 Oct 21;101593. doi: 10.1016/j.rehab.2021.101593. Online ahead of print.

Multidisciplinary rehabilitation is relevant in severe myasthenia gravis: an observation Maëva Cotinat¹, Annie Verschueren², Shahram Attarian², Jean-Michel Viton³, Laurent Bensoussan⁴

 ¹ Aix Marseille Université, CNRS, INT UMR 7289, 13385 Marseille, France; APHM, Timone University Hospital, CHU Timone, Physical and Rehabilitation Medicine Department, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France. Electronic address: maeva.cotinat@ap-hm.fr.

 ² Reference Centre for neuromuscular diseases and ALS, Timone University Hospital, Aix-Marseille Université, CHU Timone, 264 rue Saint Pierre, 13385, Marseille Cedex 05, France.

 ³ Aix Marseille Université, CNRS, INT UMR 7289, 13385 Marseille, France; APHM, Timone University Hospital, CHU Timone, Physical and Rehabilitation Medicine Department, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France.

 ⁴ Aix Marseille Université, CNRS, INT UMR 7289, 13385 Marseille, France; APHM, Timone University Hospital, CHU Timone, Physical and Rehabilitation Medicine Department, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France; UGECAM Institut Universitaire de Réadaptation de Valmante Sud.

 PMID: 34688914

 DOI: 10.1016/j.rehab.2021.101593

Keywords: exercise; fatigue; multidisciplinary rehabilitation; myasthenia gravis; quality of life; respiratory training.

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-Lewis¹, Claire M White¹, Mark Ashworth¹, Michael R Rose²

 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.

Front Physiol . 2021 Oct 15;12:744632. doi: 10.3389/fphys.2021.744632. eCollection 2021.

The Second Wind in McArdle Patients: Fitness Matters

Eduardo Salazar-Martínez¹, Alfredo Santalla^{2 3}, Pedro L Valenzuela⁴, Gisela Nogales-Gadea⁵, Tomàs Pinós^{6 7} , María Morán^{6 8}, Alejandro Santos-Lozano^{9 10}, Carmen Fiuza-Luces¹⁰, Alejandro Lucia^{4 10}

 ¹ Centro de Estudios Universitarios Cardenal Spínola-CEU, Seville, Spain.

 ² Department of Sports and Computing, Pablo de Olavide University, Seville, Spain.

 ³ EVOPRED Research Group, Universidad Europea de Canarias, Tenerife, Spain.

 ⁴ Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.

 ⁵ Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.

 ⁶ Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

 ⁷ Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.

 ⁸ Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital '12 de Octubre' ('imas12'), Madrid, Spain.

 ⁹ i+HeALTH, European University Miguel de Cervantes, Valladolid, Spain.

 ¹⁰ Physical Activity and Health Research Group, Instituto de Investigación Sanitaria Hospital '12 de Octubre' ('imas12'), Madrid, Spain.

 PMID: 34721068

 PMCID: PMC8555491

 DOI: 10.3389/fphys.2021.744632

Keywords: cardiorespiratory fitness; glycogenosis type 5; myophosphorylase deficiency; physical activity second wind in McArdles 2; ventilatory threshold.

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)

Nephrologie – Nephrology

Case Reports

148. BMJ Case Rep . 2021 Nov 2;14(11):e245898. doi: 10.1136/bcr-2021-245898.

MELAS syndrome: an acute stroke-like episode complicated by renal tubular acidosis Dearbhail Ni Cathain¹, Emmet Browne², Kieran Skehan², Karl Boyle²

 ¹ Beaumont Hospital, Dublin, Ireland dearbhailnicathain@rcsi.ie.

 ² Beaumont Hospital, Dublin, Ireland.

 PMID: 34728512

 DOI: 10.1136/bcr-2021-245898

Keywords: fluid electrolyte and acid-base disturbances; pharmacology and therapeutics; stroke; unwanted effects/adverse reactions.

Dans le document Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires (Page 54-58)