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Muscle & Nerve

Carla Carnovale, Marta Gentili, Stefania Antoniazzi, Emilio Clementi, Sonia Radice
No abstract text is available yet for this article.
September 9, 2017: Muscle & Nerve
Hongmin Tu, Ritva Pirskanen-Matell, Anne Heikkinen, Tuomo Oikarainen, Juha Risteli, Taina Pihlajaniemi
INTRODUCTION: Myasthenia Gravis (MG) is a neuromuscular junction (NMJ) disorder caused by autoantibodies against NMJ proteins. Collagen XIII is a muscle-derived transmembrane protein required for NMJ maturation. The objective of this study is to explore existence of autoantibodies to collagen XIII in MG patients. METHODS: Seventy MG patient sera and 61 human healthy controls were screened for collagen XIII autoantibodies by enzyme-linked immunosorbent assay (ELISA)...
September 8, 2017: Muscle & Nerve
Claire E Feather, Justin G Lees, Preet G S Makker, David Goldstein, John B Kwok, Gila Moalem-Taylor, Patsie Polly
INTRODUCTION: Muscle wasting is a frequent, debilitating complication of cancer. The impact of colorectal cancer chemotherapeutic oxaliplatin on the development of muscle loss and associated molecular changes is of clinical importance. METHODS: C57BL/6J male mice were treated with oxaliplatin. Total body weights were measured and behavioral studies performed. Hindlimb muscle weights (gastrocnemius and soleus) were recorded in conjunction with gene and protein expression analysis...
September 7, 2017: Muscle & Nerve
Tejaswi Kandula, Michelle A Farrar, Arun V Krishnan, Jenna Murray, Hannah C Timmins, David Goldstein, Cindy S-Y Lin, Matthew C Kiernan, Susanna B Park
INTRODUCTION: Given recent findings of subclinical sensory deficits in colorectal cancer patients prior to oxaliplatin treatment, the current study aimed to identify evidence of subclinical peripheral neuropathy on multimodal testing before chemotherapy commencement. METHODS: Clinical, functional and neurophysiological assessments were undertaken in 93 colorectal cancer patients prior to chemotherapy. RESULTS: There was no neurophysiological evidence of neuropathy, with 92/93 sural sensory values within normative reference values for age and no significant abnormalities detected in nerve conduction or nerve excitability studies...
September 7, 2017: Muscle & Nerve
Sivesh K Kamarajah, Girija Sadalage, Jonathan Palmer, Helena Carley, Paul Maddison, Arulmaran Sivaguru
INTRODUCTION: There is limited data on the natural history of untreated myasthenia gravis (MG) with ocular presentation. METHODS: We analysed 93 patients from symptom onset presenting to Birmingham Midlands Eye Centre (BMEC) from January 2004 to July 2015. We used multiple stepwise logistic regression to identify predictive factors of generalisation and Kaplan-Meier analysis on time to generalisation. RESULTS: 46% of patients developed generalised symptoms during the study period...
September 7, 2017: Muscle & Nerve
Ingelise Christiansen, Lars H Markvardsen, Johannes Jakobsen
INTRODUCTION: Variation of muscle strength and function have not been studied in patients with chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy whose treatment regimen has been changed from intravenous to subcutaneous immunoglobulin (IVIG to SCIG). METHODS: In a prospective open label study, patients were changed from monthly IVIG to weekly SCIG. The primary endpoint was the variation of isokinetic muscle strength (cIKS). Secondary endpoints were variation of Medical Research Council (MRC) score, grip strength (GS), 9-hole-peg test (9-HPT), 40-meter-walk test (40-MWT)...
September 7, 2017: Muscle & Nerve
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
Charenya Anandan, Margherita Milone
No abstract text is available yet for this article.
September 7, 2017: Muscle & Nerve
Robert Boland-Freitas, James Lee, James Howells, Christina Liang, Alastair Corbett, Garth Nicholson, Karl Ng
INTRODUCTION: Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonic dystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2. METHODS: MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n = 4) and normal controls (n = 30). RESULTS: Residual supernormality after multiple conditioning stimuli was increased in DM2 and advanced DM1...
September 7, 2017: Muscle & Nerve
Jane Larkindale, John D Porter
While the neuromuscular field has seen accelerated approval of a drug for Duchenne muscular dystrophy (DMD) and full approval of one for spinal muscular atrophy, these experiences have shown that objective data and an adequate level of effect are essential for drug approval and reimbursement. The appropriateness and validity of biomarkers and clinically meaningful endpoints, and an understanding of disease progression rates, all played essential roles in the levels of evidence for these drugs. Such tools are best developed through integration of clinical data...
September 7, 2017: Muscle & Nerve
João Lo Madeira, Alexandre Bc Souza, Flavia S Cunha, Rafael L Batista, Nathalia L Gomes, Andresa S Rodrigues, Frederico Mennucci de Haidar Jorge, Gerson Chadi, Dagoberto Callegaro, Berenice B Mendonca, Elaine Mf Costa, Sorahia Domenice
No abstract text is available yet for this article.
September 6, 2017: Muscle & Nerve
Rylie M Hightower, Matthew S Alexander
Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing (NGS) has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost, have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes including age of loss of ambulation, steroid-responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy...
September 6, 2017: Muscle & Nerve
Jessie Huisinga, Adam Bruetsch, Ayla McCalley, Melissa Currence, Laura Herbelin, Omar Jawdat, Mamatha Pasnoor, Mazen Dimachkie, Richard Barohn, Jeffrey Statland
INTRODUCTION: Instrumenting timed functional motor tasks may reveal a continuum of motor disability that predicts future motor dysfunction. METHODS: We performed a prospective study of the instrumented timed up and go (iTUG) test in genetically confirmed facioscapulohumeral muscular dystrophy (FSHD) participants utilizing a commercially available system of wireless motion sensors. Patients returned within 2 weeks to determine test-retest reliability. Gait parameters in FSHD participants were compared to a normative data base, FSHD clinical severity score, manual muscle testing, and patient-reported functional disability...
September 6, 2017: Muscle & Nerve
Robert D Guber, Angela D Kokkinis, Alice B Schindler, Roxanna M Bendixen, Chad R Heatwole, Kenneth H Fischbeck, Christopher Grunseich
INTRODUCTION: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective, and the impact these symptoms have on QoL. METHODS: We conducted open-ended interviews with 21 adult males with genetically confirmed SBMA. Using a qualitative framework technique, interviews were coded and analyzed to identify symptoms and resulting themes. RESULTS: From these interviews, 729 quotations were extracted...
September 6, 2017: Muscle & Nerve
Ozden Kilinc, Savas Sencan, Tulay Ercalik, Pinar Kahraman Koytak, Hande Alibas, Osman Hakan Gunduz, Tulin Tanridag, Kayihan Uluc
INTRODUCTION: Increased response to painful stimuli without spontaneous pain suggests the role of the central hyperexcitability of pain pathways in the pathogenesis of Myofascial pain syndrome (MPS). In this study, we aimed to test the hypothesis that spinal pain pathways are affected in MPS and we used cutaneous silent period (CSP) parameters to demonstrate the hyperexcitability of spinal pain pathways in MPS. METHODS: Twenty-nine patients diagnosed with MPS and 30 healthy volunteers were included in the study...
September 6, 2017: Muscle & Nerve
Alberto Rolim Muro Martinez, Marcela Câmara Machado Costa, Marco Antônio Caires Novaes, Humberto Castro Lima, Anamarli Nucci, Marcondes C França
No abstract text is available yet for this article.
September 6, 2017: Muscle & Nerve
Yuming Lei, Nina L Suresh, William Z Rymer, Xiaogang Hu
INTRODUCTION: Muscle force generation involves recruitment and firing rate modulation of motor units (MUs). The control of MUs to produce multi-directional forces remains unclear. METHODS: We studied MU recruitment and firing properties, recorded from the first dorsal interosseous muscle, for three different directions of contraction: abduction, abduction/flexion combination and flexion. RESULTS: MUs were recruited systematically at higher threshold force during flexion...
September 6, 2017: Muscle & Nerve
Ki Hoon Kim, Seok Jun Lee, Byung Kyu Park, Dong Hwee Kim
INTRODUCTION: To identify sensory branches of the ulnar nerve - palmar ulnar cutaneous nerve (PUCN), dorsal ulnar cutaneous nerve (DUCN), and superficial sensory branch - using ultrasonography. METHODS: In 60 forearms of 30 healthy adult volunteers, the origin and size of the PUCN, DUCN, and superficial sensory branch were measured using ultrasonography. The relative pathway of the DUCN to the ulnar styloid process was also investigated. RESULTS: The PUCN was observed in 47 forearms (78%), and DUCN in all...
September 6, 2017: Muscle & Nerve
Maria O Kovalchuk, Hessel Franssen, Leonard van Schelven, Boudewijn T H M Sleutjes
INTRODUCTION: In some peripheral nervous system disorders cold induces symptoms of muscle weakness without loss of sensation. To understand this selective effect on motor function, it is first necessary to delineate the effects of cooling in motor and sensory axons of healthy subjects. METHODS: In 17 healthy volunteers, we performed excitability and clinical tests of median nerve motor and sensory axons at 37°C and 20°C. Clinical tests consisted of assessing thenar muscle strength, 2-point discrimination and joint position sense of the 3(rd) finger...
September 6, 2017: Muscle & Nerve
Coline Barraud, Isabelle Desguerre, Christine Barnerias, Cyril Gitiaux, Christophe Boulay, Brigitte Chabrol
OBJECTIVE: We determined the clinical, paraclinical, and treatment-related features of juvenile myasthenia gravis (JMG) as well as the clinical course in a cohort of French children. METHODS: We conducted a retrospective study of 40 patients with JMG at 2 French Pediatric Neurology departments from April 2004 to April 2014. RESULTS: Among the patients, 70% had generalized JMG, 52% had positive acetylcholine receptor antibodies, 8% had muscle-specific-kinase antibodies, and 40% were seronegative...
September 6, 2017: Muscle & Nerve
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