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Muscle & Nerve

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https://www.readbyqxmd.com/read/29350794/the-role-of-electrodiagnosis-with-long-exercise-test-in-mcardle-disease
#1
Claudio Semplicini, Marianne Hézode-Arzel, Pascal Laforêt, Anthony Béhin, Sarah Leonard-Louis, Jean-Yves Hogrel, François Petit, Bruno Eymard, Tanya Stojkovic, Emmanuel Fournier
INTRODUCTION: We evaluated the role of an electrodiagnsotic provocative test (long exercise test, LET) in McArdle disease. METHODS: Twenty-five McArdle patients and two control groups underwent an electrodiagnsotic protocol with LET, consisting of recording the compound muscle action potential (CMAP) before and after 5 minutes of isometric contraction. RESULTS: LET disclosed a post-exercise decrease in CMAP amplitude in 23/25 McArdle patients...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350769/myotilinopathy-unmasked-by-statin-treatment-a-case-report
#2
Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Míriam Almendrote, Giuseppe Lucente, Cristina Carrato, Alfonsina Ballester-Lopez, Alejandro Lucia, Guillem Pintos-Morell, Gisela Nogales-Gadea, Jaume Coll-Cantí
No abstract text is available yet for this article.
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#3
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29346717/anterior-cruciate-ligament-tear-induces-a-sustained-loss-of-muscle-fiber-force-production
#4
Jonathan P Gumucio, Kristoffer B Sugg, Elizabeth R Sibilsky Enselman, Alexis C Konja, Logan R Eckhardt, Asheesh Bedi, Christopher L Mendias
INTRODUCTION: Patients with anterior cruciate ligament (ACL) tears have persistent quadriceps strength deficits that are thought to be due to altered neurophysiological function. Our goal was to determine the changes in muscle fiber contractility independent of the ability of motor neurons to activate fibers. METHODS: We obtained quadriceps biopsies of patients undergoing ACL reconstruction, and additional biopsies one, two, and six months after surgery. Muscles fiber contractility was assessed in vitro, along with whole muscle strength testing...
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29346715/duchenne-muscular-dystrophy-caused-by-a-novel-deep-intronic-dmd-mutation
#5
Matthew R Ginsberg, Andrew J McCarty, David Lacomis, Hoda Z Abdel-Hamid
No abstract text is available yet for this article.
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29346706/anti-hmgcr-autoantibody-positive-necrotizing-autoimmune-myopathy-with-dermatomyositis-like-eruption
#6
Prachi Parikh, Jinny Tavee, Payam Soltanzadeh, Andrew L Mammen, Paul McKeever, Yuebing Li
No abstract text is available yet for this article.
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29346705/effect-of-dys-1-mutation-on-gene-expression-profile-in-space-flown-c-elegans
#7
Dan Xu, Ying Gao, Lin Guo, Chenggang Lin, Yeqing Sun
INTRODUCTION: Dystrophin-like dys-1 gene expression increases in the body-wall muscles of Caenorhabditis elegans (C. elegans) after spaceflight. Here, we utilized a dys-1(cx18) mutant to analyze the molecular adaptive responses of C. elegans to spaceflight. METHODS: DNA microarrays were performed to identify differentially expressed genes between wild-type and dys-1 mutant worms after spaceflight. We performed Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses, predicted human diseases and screened out key genes for human muscle diseases with NextBio...
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342325/the-neuromuscular-complications-of-immune-checkpoint-inhibitor-therapy
#8
REVIEW
Noah A Kolb, Christopher R Trevino, Waqar Waheed, Fatemeh Sobhani, Kara K Landry, Alissa A Thomas, Mike Hehir
Immune checkpoint inhibitor (ICPI) therapy unleashes the body's natural immune system to fight cancer. ICPIs improve overall cancer survival, however the unbridling of the immune system may induce a variety of immune related adverse events. Neuromuscular immune complications are rare but they can be severe. Myasthenia gravis and inflammatory neuropathy are the most common neuromuscular adverse events but a variety of others including inflammatory myopathy are reported. The pathophysiologic mechanism of these autoimmune disorders may differ from that of non-ICPI related immune diseases...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342319/validation-of-the-individualized-neuromuscular-quality-of-life-in-japanese-patients-with-myotonic-dystrophy
#9
Haruo Fujino, Toshio Saito, Masanori P Takahashi, Hiroto Takada, Takahiro Nakayama, Katsuhisa Ogata, Michael R Rose, Osamu Imura, Tsuyoshi Matsumura
INTRODUCTION: The Individualized Neuromuscular Quality of Life (INQoL) is used to measure the quality of life (QoL) of patients with neuromuscular disease. We conducted this study to translate and validate the Japanese version of the INQoL in patients with myotonic dystrophy. METHODS: Forward and backward translation, patient testing, and psychometric validation were performed. We used the SF-36 Health Survey and the modified Rankin scale for concurrent validation...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342314/fatigue-is-a-relevant-outcome-in-patients-with-myasthenia-gravis
#10
Christopher Tran, Vera Bril, Hans D Katzberg, Carolina Barnett
INTRODUCTION: Patients with myasthenia gravis often experience fatigue, but its effect on quality of life (QoL) is underestimated, and fatigue is rarely measured in clinical trials. METHODS: 257 myasthenic patients completed the Neuro-QoL-Fatigue and measures of disease severity and QoL. We studied the relationship between fatigue, clinical, and demographic variables. Finally, we studied the responsiveness of the Neuro-QoL-Fatigue in 95 patients receiving treatments for myasthenia, and estimated the minimal important difference (MID)...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342313/collagen-xii-myopathy-with-rectus-femoris-atrophy-and-collagen-xii-retention-in-fibroblasts
#11
Nanna Witting, Thomas Krag, Ulla Werlauff, Morten Duno, Sofie Thuroe Oestergaard, Julia Rebecka Dahlqvist, John Vissing
INTRODUCTION: Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations. METHODS: Systematic interview, clinical examination, skin biopsies and MRI muscle. RESULTS: The phenotype was characterized by neonatal hypotonia, contractures and delayed motor development followed by resolution of contractures and a motor performance limited by reduced endurance...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342311/non-motor-manifestations-in-als-patients-with-tracheostomy-and-invasive-ventilation
#12
EDITORIAL
Nazem Atassi
No abstract text is available yet for this article.
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29328516/ultrasonographic-demonstration-of-intraneural-neovascularization-after-penetrating-nerve-injury
#13
Zsuzsanna Arányi, Anita Csillik, Katalin Dévay, Maja Rosero
INTRODUCTION: Hypervascularization of nerves has been shown to be a pathological sign in some peripheral nerve disorders, but has not been investigated in nerve trauma. METHODS: An observational cohort study was performed of the intraneural blood flow of 30 patients (34 nerves) with penetrating nerve injuries, before or after nerve reconstruction. All patients underwent electrophysiological assessment, and B-mode and color Doppler ultrasonography. RESULTS: Intraneural hypervascularization proximal to the site of injury was found in all nerves, which was typically marked and had a longitudinal extension of several centimeters...
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29328515/magnetic-resonance-imaging-in-facioscapulohumeral-muscular-dystrophy
#14
EDITORIAL
Doris G Leung
No abstract text is available yet for this article.
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29328504/myotonic-dystrophy-patient-preferences-in-patient-reported-outcome-measures
#15
Chad Heatwole, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek, Kate Eichinger, James Hilbert, Elizabeth Luebbe, William Martens, Michael P McDermott, Charles Thornton, Richard Moxley
INTRODUCTION: In preparation for clinical trials in myotonic dystrophy type-1 (DM1), it is important to develop and identify patient-reported outcome measures with good measurement properties. METHODS: Fifty-two DM1 patients enrolled in two clinical studies completed the Myotonic Dystrophy Health Index (MDHI), SF-36v2, Individualized Neuromuscular Quality of Life questionnaire (NQoL), and a questionnaire comparing the relevance, usability, overall preference, and perceived responsiveness of each measure...
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29315708/neuralgic-amyotrophy-in-children
#16
Fouad Al-Ghamdi, Partha S Ghosh
INTRODUCTION: Neuralgic amyotrophy (NA) is characterized by the clinical triad of pain, muscle weakness/atrophy and sensory symptoms. METHODS: We retrospectively identified children (≤18 years) over 15 years (2002-2017) from a single pediatric center. RESULTS: We had 22 patients (8 female; 6-18 years); pain was the presenting manifestation in all of them. Clinical weakness involving periscapular muscles was observed in 16 patients, scapular winging in 13...
January 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29315676/aging-impairs-regulation-of-ryanodine-receptors-from-edl-but-not-soleus-muscles
#17
Angela J Gaboardi, Jochen Kressler, Teresa K Snow, Edward M Balog
INTRODUCTION: Because impaired excitation-contraction coupling and reduced sarcoplasmic reticulum Ca2+ release may contribute to the age-associated decline in skeletal muscle strength, we investigated the effect of aging on RyR1 regulation by physiological channel ligands. METHODS: [3 H]Ryanodine binding to membranes from 8 and 26 month old Fischer 344 extensor digitorum longus (EDL) and soleus muscles was used to investigate the effects of age on RyR1 modulation by Ca2+ and calmodulin (CaM)...
January 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29315666/time-course-study-of-macrophage-infiltration-and-inflammation-in-cast-immobilization-induced-atrophied-muscle-of-mice
#18
Noriaki Kawanishi, Tomoko Funakoshi, Shuichi Machida
Introduction Macrophage infiltration may play an important role in mediating the development of muscle atrophy. However, temporal differences in the activation of muscle atrophy signaling pathways and the progress of macrophage infiltration during the atrophic phases of cast immobilization are currently unknown. Methods C57BL/6J mice were sacrificed after cast immobilization at 1, 3, 7, and 14 days. Results Skeletal muscle macrophage numbers were unchanged on days 1 and 3 after immobilization, but were elevated on days 7 (2...
January 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29315664/outcomes-following-surgery-for-peroneal-intraneural-ganglion-cysts
#19
Thomas J Wilson, Michelle L Mauermann, Michael G Rock, Robert J Spinner
Introduction The objective of this study was to answer the typical questions from patients regarding the likely neurologic outcome and likelihood of recurrence when discussing peroneal intraneural ganglion cysts preoperatively. Methods Retrospective analysis of all patients who underwent surgery for a peroneal intraneural ganglion cyst between January 1, 2000 and April 1, 2017 was performed. Postoperative neurologic outcomes and radiologic recurrences are reported. Results There were 65 patients. Average clinical follow-up was 14 months...
January 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29315669/guillain-barr%C3%A3-syndrome-subtype-diagnosis-a-prospective-multicentric-european-study
#20
Peter Y K Van den Bergh, Françoise Piéret, John L Woodard, Shahram Attarian, Aude-Marie Grapperon, Guillaume Nicolas, Marion Brisset, Julien Cassereau, Yusuf A Rajabally, Vinciane Van Parijs, Donatienne Verougstraete, Philippe Jacquerye, Jean-Marc Raymackers, Céline Redant, Claure Michel, Emilien Delmont
INTRODUCTION: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically. METHODS: We prospectively included 58 GBS patients. Electrophysiology was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal...
January 5, 2018: Muscle & Nerve
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