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Muscle & Nerve

Maria Jędrzejowska, Emilia Dębek, Bartłomiej Kowalczyk, Paulina Halat, Anna Kostera-Pruszczyk, Elżbieta Ciara, Aleksandra Jezela-Stanek, Małgorzata Rydzanicz, Piotr Gasperowicz, Monika Gos
INTRODUCTION: Mutations in the TRPV4 gene are associated with neuromuscular disorders and skeletal dysplasias, which present a phenotypic overlap. METHODS: Next generation sequencing and Sanger sequencing were used to analyze the TRPV4 gene. RESULTS: We present two Polish families with TRPV4-related disorder harboring the same p.Arg269His mutation. The disease phenotypic expression was extremely variable (from mild scapular winging to severe hypotonia, global weakness, inability to walk unaided, congenital contractures, scoliosis and respiratory insufficiency), but did not suggest anticipation...
September 19, 2018: Muscle & Nerve
Yeliz Salcı, Ecem Karanfil, Ayla Fil Balkan, Ebru Çalık Kütükçü, Ali Naim Ceren, Fatma Ayvat, Can Ebru Bekircan-Kurt, Kadriye Armutlu
INTRODUCTION: We aimed to evaluate the test-retest reliability and construct validity of the six-and two-minute walk tests (6mWT and 2mWT, respectively) in myasthenia gravis (MG) patients. METHODS: Thirty-one generalized MG patients were enrolled in this study. The 6mWT and 2mWT, MG specific quality of life (MG-QoL15T) scale, quantitative myasthenia gravis scale (QMGS), pulmonary function tests were administered. RESULTS: The intra-class correlation coefficients of 2mWT and 6mWT were 0...
September 19, 2018: Muscle & Nerve
Chelsey L Dunham, Aaron M Chamberlain, Gretchen A Meyer, Spencer P Lake
INTRODUCTION: Post-traumatic elbow contracture is clinically challenging because injury often disrupts multiple periarticular soft tissues. Tissue specific contribution to contracture, particularly muscle, remains poorly understood. METHODS: This study utilized a previously developed animal model of elbow contracture. After surgically inducing a unilateral soft tissue injury, injured limbs were immobilized for 3, 7, 21, and 42 days (IM) or for 42 IM with 42 days of free mobilization (42/42 IM-FM)...
September 19, 2018: Muscle & Nerve
Jeremy M Shefner
No abstract text is available yet for this article.
September 19, 2018: Muscle & Nerve
David Walk
No abstract text is available yet for this article.
September 18, 2018: Muscle & Nerve
James B Caress, Michael S Cartwright
No abstract text is available yet for this article.
September 14, 2018: Muscle & Nerve
Jun Shen, Weiming Chen, Xuan Ye, Yanqun Qiu, Jing Xu, Zu Yi, Yundong Shen, Wendong Xu
INTRODUCTION: The purpose of this study was to evaluate the application of ultrasound in the management of iatrogenic spinal accessory nerve palsy at the posterior cervical triangle area. METHODS: In this retrospective study, we compared ultrasonographic results with intraoperative findings in patients with iatrogenic spinal accessory nerve palsy from 2014 to 2018 in our hospital. RESULTS: Eleven patients were included. Ultrasound detected nerve transections in 9 patients and continuities in 2 patients...
September 14, 2018: Muscle & Nerve
Mana Higashihara, Parvathi Menon, Mehdi van den Bos, Nimeshan Geevasinga, Steve Vucic
INTRODUCTION: Reproducibility of the multiple point stimulation motor unit number estimation (MPS-MUNE) technique was compared to the recently developed motor unit number index (MUNIX) technique. METHODS: MPS-MUNE and MUNIX were performed on 15 healthy subjects at three different time points by the same examiner. Reproducibility was analyzed using intraclass correlation coefficient (ICC) and coefficient variation (CV). RESULTS: ICC values for MUNIX and MPS-MUNE were excellent across three tests (0...
September 8, 2018: Muscle & Nerve
Julia New-Tolley, Caroline Smith, Barbara Koszyca, Sophia Otto, Adam Maundrell, Peter Bardy, Devendra Hiwase, Agnes S M Yong, Ian Lewis, Vidya Limaye
INTRODUCTION: Graft versus host disease (GVHD) is a recognized complication of allogeneic stem cell transplantation (allo-SCT) and may affect muscle. We investigated the incidence and subtypes of inflammatory myopathy (IM) in South Australian recipients of allo-SCT. METHODS: Recipients of allo-SCT from 2004 - 2014 at the Royal Adelaide Hospital were identified. Records were reviewed to identify patients with weakness, creatine kinase (CK) elevation, and muscle biopsy confirming IM...
September 8, 2018: Muscle & Nerve
Mariela Bernabe-García, Maricela Rodríguez-Cruz, Salvador Atilano, Oriana Rocío Cruz-Guzmán, Tomás Almeida-Becerril, Philip C Calder, Julia Gonzalez
INTRODUCTION: In Duchenne muscular dystrophy (DMD) muscle is replaced by adipose tissue. The role of dietary intake (DI) in DMD has not been evaluated. We examined body composition , BMI and adequacy of DI in patients with DMD and evaluated the influence of DI on body composition. METHODS: Patients (n=101; age 3 to 18 years; BMI 11.8 to 29.5 kg/m2 ) completed a dietary recall to determine DI and underwent dual-energy x-ray absorptiometry to determine body composition...
September 8, 2018: Muscle & Nerve
Hadil Alrohaif, Oksana Pogoryelove, Abdullah Al-Ajmi, Lulwa A Aljeryan, Nuwayer H Alrashidi, Sara A Alefasi, Andoni Urtizberea, Hanns Lochmüller, Laila Bastaki
INTRODUCTION: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative quadriceps muscle sparing. METHODS: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were further studied for disease-associated features. RESULTS: GNE myopathy was confirmed in 14/37 patients (37.8%) that were screened...
September 7, 2018: Muscle & Nerve
Jonathan R Galli, Sharon D Austin, John E Greenlee, Stacey L Clardy
INTRODUCTION: Stiff Person Syndrome (SPS) is a neurological disorder characterized by muscle rigidity primarily in the truncal muscles, commonly associated with autoantibodies to the glutamic acid-decarboxylase 65 kD receptor (GAD65). There is limited epidemiological information on patients with SPS. METHODS: We performed a retrospective case review utilizing the National United States Veterans Affairs Health Administration electronic medical record system. We analyzed prevalence, demographics, disease characteristics, and treatment outcomes in anti-GAD65 antibody positive SPS patients...
September 7, 2018: Muscle & Nerve
Thomas Khoo, Gillian E Caughey, Catherine Hill, Vidya Limaye
INTRODUCTION: A rare association of proton pump inhibitor (PPI) use with the development of inflammatory myopathies (IM) has been reported but unlike with statin medications, there is sparse data supporting or refuting this. METHODS: A case-control study was conducted of patients with IM. Clinical information, medications and demographics were recorded. Controls were matched 3:1 on age and gender. RESULTS: 221 cases of IM were identified. No association of PPI use with IM was observed by comparison to controls (odds ratio 1...
September 7, 2018: Muscle & Nerve
Craig M McDonald
No abstract text is available yet for this article.
September 7, 2018: Muscle & Nerve
Jeffrey M Statland, Dan Moore, Yunxia Wang, Maureen Walsh, Tahseen Mozaffar, Lauren Elman, Sharon Nations, Hiroshi Mitsumoto, J Americo Fernandes, David Saperstein, Ghazala Hayat, Laura Herbelin, Chafic Karam, Jonathan Katz, Heather M Wilkins, Abdulbaki Agbas, Russell H Swerdlow, Regina M Santella, Mazen M Dimachkie, Richard J Barohn
INTRODUCTION: Rasagiline is an MAO-B inhibitor with possible neuroprotective effects in patients with amyotrophic lateral sclerosis (ALS). METHODS: We performed a randomized, double-blind, placebo-controlled trial of 80 ALS participants with enrichment of the placebo group with historical controls (n=177) at 10 centers in the United States. Participants were randomized in a 3:1 ratio to 2 mg rasagiline daily or placebo. The primary outcome was the average slope of decline of the ALS Functional Rating Scale-Revised (ALSFRS-R)...
September 7, 2018: Muscle & Nerve
Kush Kapur, Janice A Nagy, Rebecca S Taylor, Benjamin Sanchez, Seward B Rutkove
INTRODUCTION: A method for quantifying myofiber size noninvasively would find wide use, including primary diagnosis and evaluating response to therapy. METHODS: Using prediction algorithms, including the least absolute shrinkage and selection operator, we applied multifrequency electrical impedance myography (EIM) to amyotrophic lateral sclerosis superoxide dismutase 1 G93A mice of different ages and assessed myofiber size histologically. RESULTS: Multifrequency EIM data provided highly accurate predictions of myofiber size, with a root mean squared error (RMSE) of only 14% in mean myofiber area (corresponding to ± 207 µm2 for a mean area of 1,488 µm2 ) and an RMSE of only 8...
September 2, 2018: Muscle & Nerve
Margherita Milone, Teerin Liewluck
Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early-childhood to late-adulthood while the predominant muscle weakness can affect calf, ankle dorsiflexor or distal upper limb muscles. A spectrum of muscle pathological changes, varying from nonspecific myopathic changes to rimmed vacuoles to myofibrillar pathology to nuclei centralization, have been noted...
August 31, 2018: Muscle & Nerve
Evan M Pucillo, Melissa M McIntyre, Mary Pautler, Man Hung, Jerry Bounsanga, Maren W Voss, Heather Hayes, Deanna L DiBella, Caren Trujillo, Melissa Dixon, Russell J Butterfield, Nicholas E Johnson
INTRODUCTION: The purpose of this study was to describe and compare the performance of balance and walking tests in relation to self-reported fall history in adults with myotonic dystrophy type 1 (DM1). METHODS: Twenty-two (13 male) participants with DM1 completed a six-month fall history questionnaire, the modified Dynamic Gait Index (mDGI), Limits of Stability (LoS) and the 10-meter walking tests. RESULTS: Mean(SD) falls in 6 months was 3...
August 30, 2018: Muscle & Nerve
Juultje Sommers, Michelle van den Boorn, Raoul H H Engelbert, Frans Nollet, Marike van der Schaaf, Janneke Horn
INTRODUCTION: Intensive Care Unit (ICU) patients often develop weakness. Rehabilitation is initiated early to prevent physical deterioration, but knowledge of optimal training schedules is lacking. A reliable method to assess muscle activity during exercise is needed. We explored the feasibility of electrical activity measurement by surface electromyography (sEMG) during bed cycling in ICU patients. METHODS: SEMG was performed in nine ICU patients and six healthy controls...
August 30, 2018: Muscle & Nerve
Gretchen A Meyer
INTRODUCTION: Efficient repositioning of centralized nuclei following injury has long been assumed, with centralized nuclei frequently cited as indicators of ongoing regeneration. However, reports of centralized nuclei that persist following full recovery of fiber area and muscle force production call into question the time course of nuclear repositioning. METHODS: We evaluated regeneration following cardiotoxin-induced damage in 10 week old mice by quantifying intracellular and extracellular pathology at 2 and 94 weeks post-injection...
August 30, 2018: Muscle & Nerve
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