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

125. Pulmonology. 2021 Oct 13;S2531-0437(21)00127-6. doi: 10.1016/j.pulmoe.2021.06.007. Online ahead of print.

Continuous noninvasive ventilatory support outcomes for patients with neuromuscular disease: a multicenter data collaboration

M R Gonçalves ¹, J R Bach ², Y Ishikawa ³, L Saporito ², J C Winck ⁴, International Study Group on Continuous Noninvasive Ventilatory Support in Neuromuscular Disease (CNVSND)

 ¹Department of Pulmonology, University Hospital of S. João, Faculty of Medicine, University of Porto, Av. Prof.

Hernani Monteiro, Porto, Portugal. Electronic address: goncalvesmr@gmail.com.

 ²Department of Physical Medicine and Rehabilitation, Rutgers University - New Jersey Medical School, USA.

 ³National Organization Yakumo Hospital, Hokkaido, Japan.

 ⁴Department of Pulmonology, University Hospital of S. João, Faculty of Medicine, University of Porto, Av. Prof.

Hernani Monteiro, Porto, Portugal.

 PMID: 34656524

 DOI: 10.1016/j.pulmoe.2021.06.007

Conclusions: ALS, DMD, and SMA1 patients can become CNVS dependent without requiring hospitalization but CNVS cannot be used indefinitely for many patients with advanced upper motor neuron diseases.

126. Neuromuscul Disord. 2021 Jul 28;S0960-8966(21)00190-5. Online ahead of print.

Newborn screening of neuromuscular diseases Tamara Dangouloff ¹, François Boemer ², Laurent Servais ³

 ¹Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium. Electronic address: tamara.dangouloff@uliege.be.

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

 ³Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium; MDUK Neuromuscular Centre, Department of Paediatrics,

University of Oxford, UK. Electronic address: laurent.servais@paediatrics.ox.ac.uk.

 PMID: 34620514

 DOI: 10.1016/j.nmd.2021.07.008

Keywords: Duchenne muscular dystrophy; Neuromuscular disorder; Newborn screening; Pompe disease; Spinal muscular atrophy.

127. Muscle Nerve. 2021 Oct 12. doi: 10.1002/mus.27436. Online ahead of print.

Single- and multiple-dose safety, tolerability, pharmacokinetic, and pharmacodynamic profiles of ASP0367, or bocidelpar sulfate, a novel modulator of peroxisome proliferator-activated receptor delta in healthy adults: Results from a phase 1 study

Mototsugu Ito ¹, Sitra Tauscher-Wisniewski ¹, Ronald A Smulders ¹, Tomasz Wojtkowski ¹, Akihiro Yamada ², Akira Koibuchi ², Tolga Uz ¹, Gerard J Marek ¹, Ronald D Goldwater ³

 ¹Astellas Pharma Global Development, Inc., Northbrook, IL, USA.

 ²Astellas Pharma, Inc., Tokyo, Japan.

 ³Parexel International, Baltimore, MD, USA.

 PMID: 34642949

 DOI: 10.1002/mus.27436

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

Keywords: Duchenne muscular dystrophy; Mitochondrial disease; PPARδ agonist; mitochondrial myopathy; peroxisome proliferator-activated receptors.

128. Front Neurol. 2021 Sep 24;12:688246. doi: 10.3389/fneur.2021.688246. eCollection 2021.

Kidney Function in Patients With Neuromuscular Disease: Creatinine Versus Cystatin C

Elles M Screever ¹, Jenny E Kootstra-Ros ², Joyce Doorn ², Jellie A Nieuwenhuis ³, Henk E J Meulenbelt ⁴, Wouter C Meijers ¹, Rudolf A de Boer ¹

 ¹Department of Cardiology, University Medical Center Groningen, Groningen, Netherlands.

 ²Department of Laboratory Medicine, University Medical Center Groningen, Groningen, Netherlands.

 ³Department of Pulmonary Disease, University Medical Center Groningen, Groningen, Netherlands.

 ⁴Department of Rehabilitation Medicine, University Medical Center Groningen, Groningen, Netherlands.

 PMID: 34630276

 PMCID: PMC8498206

 DOI: 10.3389/fneur.2021.688246

Keywords: Cystatin C; Duchenne muscular dystrophy; creatinine; kidney function; neuromuscular disorder.

129. Clin Chim Acta. 2021 Oct 5;S0009-8981(21)00345-4. doi: 10.1016/j.cca.2021.10.001. Online ahead of print.

The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan

Nidaa A Ababneh ¹, Dema Ali ², Ban Al-Kurdi ², Raghda Barham ², Isam K Bsisu ³, Deema Dababseh ⁴, Sally Arafat ², Asim N Khanfar ⁵, Leen Makahleh ⁵, Abdee T Ryalat ⁶, Malik Sallam ⁷, Mohammed El-Khateeb ⁸, Basil Sharrack ⁹, Abdalla Awidi ¹⁰

 ¹Cell Therapy Center (CTC), the University of Jordan, Amman, Jordan. Electronic address:

nidaaanwar@gmail.com.

 ²Cell Therapy Center (CTC), the University of Jordan, Amman, Jordan.

 ³Department of Anesthesia, School of Medicine, the University of Jordan, Amman, Jordan.

 ⁴Department of Dentistry, Jordan University Hospital, Amman, Jordan.

 ⁵School of Medicine, the University of Jordan, Amman, Jordan.

 ⁶King Hussein Cancer Center (KHCC), Amman, Jordan.

 ⁷Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, the University of Jordan, Amman, Jordan; Department of Clinical Laboratories and Forensic Medicine, Jordan University Hospital, Amman, Jordan.

 ⁸National Center for Diabetes, Endocrinology and Genetics, Amman Jordan.

 ⁹Academic Department of Neuroscience and Sheffield NIHR Neuroscience BRC, Royal Hallamshire Hospital and the University of Sheffield, Glossop Road, Sheffield, S10 2JF, UK.

 ¹⁰Cell Therapy Center (CTC), the University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan. Electronic address: abdalla.awidi@gmail.com.

 PMID: 34624274

 DOI: 10.1016/j.cca.2021.10.001

Keywords: Whole-exome sequencing; autosomal-recessive; consanguinity; genetic testing; movement disorders.

130. Front Immunol. 2021 Sep 30;12:736036. doi: 10.3389/fimmu.2021.736036. eCollection 2021.

Proton Pump Inhibitors Increase the Risk of Autoimmune Diseases: A Nationwide Cohort Study Sheng-Hong Lin ^{1 2}, Yu-Sheng Chang ^{1 2}, Tzu-Min Lin ^{2 3}, Li-Fang Hu ³, Tsung-Yun Hou ⁴, Hui-Ching Hsu ^{2 4}, Yu-Chuan Shen ^{2 4}, Pei-I Kuo ^{2 5}, Wei-Sheng Chen ⁶, Yi-Chun Lin ⁷, Jin-Hua Chen ^{7 8}, Chi-Ching Chang ^{2 3}

 ¹Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.

 ²Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.

 ³Division of Rheumatology, Immunology and Allergy, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan.

 ⁴Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Wang Fang Hospital, Taipei Medical University, Taipei, Taiwan.

 ⁵Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Cardinal Tien Hospital, Yonghe Branch, New Taipei City, Taiwan.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

 ⁶Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taipei Veterans General Hospital, National Yang-Ming University, Taipei, Taiwan.

 ⁷Biostatistics Center, College of Management, Taipei Medical University, Taipei, Taiwan.

 ⁸Graduate Institute of Data Science, College of Management, Taipei Medical University, Taipei, Taiwan.

 PMID: 34659225

 PMCID: PMC8514990

 DOI: 10.3389/fimmu.2021.736036

Keywords: autoimmune disease; cohort study; epidemiology; proton pump inhibitor; risk.

Case Reports

131. Cureus. 2021 Sep 17;13(9):e18040. doi: 10.7759/cureus.18040. eCollection 2021 Sep.

Nivolumab-Induced Myasthenia Gravis Concomitant With Myocarditis, Myositis, and Hepatitis Sawyer J Bawek ¹, Ryan Ton ¹, Margaret McGovern-Poore ², Bilal Khoncarly ¹, Ravish Narvel ³

 ¹Internal Medicine, Lake Erie College of Osteopathic Medicine - Bradenton, Jacksonville, USA.

 ²Internal Medicine, Lincoln Memorial University DeBusk College of Osteopathic Medicine, Jacksonville, USA.

 ³Internal Medicine, Ascension St. Vincent's Riverside, Jacksonville, USA.

 PMID: 34671527

 PMCID: PMC8520605

 DOI: 10.7759/cureus.18040

Keywords: hepatitis; melanoma; myasthenia gravis; myocarditis; myositis; nivolumab; pleural effusion.

132. Surg Case Rep. 2021 Oct 20;7(1):226. doi: 10.1186/s40792-021-01309-1.

A case of thymoma-associated multiorgan autoimmunity including polymyositis and myocarditis Chihiro Furuta ¹, Motoki Yano ², Hiroki Numanami ¹, Masayuki Yamaji ¹, Rumiko Taguchi ¹, Masayuki Haniuda ¹

 ¹Division of Chest Surgery, Department of Surgery, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, 480-1195, Japan.

 ²Division of Chest Surgery, Department of Surgery, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, 480-1195, Japan. yano.motoki.369@aichi-med-u.ac.jp.

 PMID: 34669063

 DOI: 10.1186/s40792-021-01309-1

133. Respir Care. 2021 Oct 20;respcare.09263. doi: 10.4187/respcare.09263. Online ahead of print.

Health Care Use, Costs, and Survival Trajectory of Home Mechanical Insufflation-Exsufflation: Health Database Case Control Study

Louise Rose ¹, Tom Fisher ², Regina Pizzuti ², Reshma Amin ³, Ruth Croxford ⁴, Craig M Dale ⁵, Roger Goldstein ⁶, Sherri Katz ⁷, David Leasa ⁸, Doug McKim ⁹, Mika Nonoyama ¹⁰, Anu Tandon ¹¹, Andrea Gershon ¹²

 ¹Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London, London, United Kingdom.

 ²Ventilator Equipment Pool, Kingston, Canada.

 ³Division of Respiratory Medicine, Hospital for Sick Children (SickKids) and SickKids Research Institute, University of Toronto, Toronto, Canada.

 ⁴ICES, Toronto, Canada.

 ⁵Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, Canada; and Department of Critical Care, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Toronto, Canada.

 ⁶West Park Healthcare Centre, Toronto, Canada and also affiliated with the Faculty of Medicine, University of Toronto, Toronto, Canada.

 ⁷Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

 ⁸Department of Medicine, Divisions of Critical Care and Respirology, London Health Sciences Centre, London, Canada; and Faculty of Medicine, Western University, London, Canada.

 ⁹Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre and Ottawa Hospital Research Institute, Ottawa, Canada and also affiliated with the Faculty of Medicine, University of Ottawa, Ottawa, Canada.

 ¹⁰Faculty of Health Sciences, Ontario Tech University, Oshawa, Canada and also affiliated with the Rehabilitation Sciences Institute, University of Toronto, Toronto, Canada.

 ¹¹Division of Respirology, Sunnybrook Health Sciences Centre and also affiliated with the Faculty of Medicine, University of Toronto, Toronto, Canada.

 ¹²Division of Respirology, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Toronto, Canada; ICES, Toronto, Canada and also affiliated with the Faculty of Medicine, University of Toronto, Toronto, Canada.

 PMID: 34670856

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

 DOI: 10.4187/respcare.09263

Keywords: costs; cough assist; health care utilization; mechanical insufflation-exsufflation; neuromuscular disease.

134. J Clin Sleep Med. 2021 Oct 15. doi: 10.5664/jcsm.9686. Online ahead of print.

Diagnosing sleep-disordered breathing in neuromuscular diseases in 2021 Marta Kaminska ^{1 2}, David Zielinski ³, Basil J Petrof ^{2 4}, Jean N Westenberg ¹, Evelyn Constantin ³

 ¹Respiratory Epidemiology and Clinical Research Unit, Translational Research in Respiratory Diseases Program, McGill University Health Centre, Montreal, Quebec, Canada.

 ²Respiratory Division & Sleep Laboratory, McGill University Health Centre, Montreal, Quebec, Canada.

 ³Department of Pediatrics and Pediatric Sleep Laboratory, McGill University, Montreal, Quebec, Canada.

 ⁴Meakins Christie Laboratories, Translational Research in Respiratory Diseases Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

 PMID: 34648423

 DOI: 10.5664/jcsm.9686

135. Acta Myol. 2021 Sep 30;40(3):124-131. doi: 10.36185/2532-1900-053. eCollection 2021 Sep.

Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders

Novella Carannante ¹, Anna Annunziata ², Antonietta Coppola ², Francesca Simioli ², Antonella Marotta ², Mariano Bernardo ³, Eugenio Piscitelli ⁴, Pasquale Imitazione ², Giuseppe Fiorentino ²

 ¹Emergency Infectious Disease AO Ospedali dei Colli, Naples, Italy.

 ²Unità of Fisiopatologia e Riabilitazione Respiratoria AO Ospedali dei Colli, Naples, Italy.

 ³Unit of Microbiology and Virology AO Ospedali dei Colli, Naples, Italy.

 ⁴Intensive Care Unit and ECMOAO-Ospedali dei Colli, Naples, Italy.

 PMID: 34632294

 PMCID: PMC8489170

 DOI: 10.36185/2532-1900-053

Keywords: neuromuscular disorders; pneumonia; respiratory infections.

136. Acta Myol. 2021 Sep 30;40(3):116-123. doi: 10.36185/2532-1900-052. eCollection 2021 Sep.

Reproducibility of manual segmentation in muscle imaging

Shaun Ivan Muzic ¹, Matteo Paoletti ², Francesca Solazzo ¹, Eugenio Belatti ¹, Raimondo Vitale ¹, Niels Bergsland ^{3 4}, Stefano Bastianello ^{1 2}, Anna Pichiecchio ^{1 2}

 ¹University of Pavia, Pavia, Italy.

 ²Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy.

 ³Buffalo Neuroimaging Analysis Center, Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, NY, USA.

 ⁴Don Carlo Gnocchi ONLUS Foundation IRCCS, Milan, Italy.

 PMID: 34632293

 PMCID: PMC8489167

 DOI: 10.36185/2532-1900-052

Keywords: muscle MRI; neuromuscular diseases; qMRI; reproducibility; segmentation.

137. MAGMA. 2021 Oct 19. doi: 10.1007/s10334-021-00967-4. Online ahead of print.

Deep learning for automatic segmentation of thigh and leg muscles

Abramo Agosti ^{1 2}, Enea Shaqiri ³, Matteo Paoletti ³, Francesca Solazzo ^{3 4}, Niels Bergsland ⁵, Giulia Colelli ^{3 6 7}, Giovanni Savini ^{3 8}, Shaun I Muzic ⁹, Francesco Santini ^{10 11}, Xeni Deligianni ^{10 11}, Luca Diamanti ¹², Mauro Monforte ¹³, Giorgio Tasca ¹³, Enzo Ricci ¹³, Stefano Bastianello ^{3 14}, Anna Pichiecchio ^{3 14}

 ¹Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.

abramo.agosti@unipv.it.

 ²Dipartimento di Matematica, Università degli Studi di Pavia, Pavia, Italy. abramo.agosti@unipv.it.

 ³Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.

 ⁴School of Specialization in Clinical Pharmacology and Toxicology Center of research in Medical Pharmacology, School of medicine University of Insubria, Varese, Italy.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

 ⁵Buffalo Neuroimaging Analysis Center, Department of Neurology, Jacobs School of Medicine and Biomedical Sciences and University of Buffalo, The State University of New York, Buffalo, NY, USA.

 ⁶Dipartimento di Matematica, Università degli Studi di Pavia, Pavia, Italy.

 ⁷INFN, Pavia Group, Pavia, Italy.

 ⁸Department of Neuroradiology, IRCCS Humanitas Research Hospital, Milano, Italy.

 ⁹University of Pavia, Pavia, Italy.

 ¹⁰Division of Radiological Physics, Department of Radiology, University Hospital Basel, Basel, Switzerland.

 ¹¹Department of Biomedical Engineering, University of Basel, Allschwil, Basel, Switzerland.

 ¹²Neuro-oncology Unit, IRCCS Mondino Foundation, Pavia, Italy.

 ¹³Unitá Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.

 ¹⁴Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

 PMID: 34665370

 DOI: 10.1007/s10334-021-00967-4

Keywords: Deep learning; Magnetic resonance imaging; Muscle segmentation.

Dans le document Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires (Page 39-43)