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https://www.readbyqxmd.com/read/28427807/targeted-next-generation-sequencing-in-patients-with-myotonia-congenita
#1
Valentina Ferradini, Marco Cassone, Sara Nuovo, Ilaria Bagni, Rosaria D'Apice, Annalisa Botta, Giuseppe Novelli, Federica Sangiuolo
INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC patients. Samples already Sanger-sequenced were successively evaluated by Next Generation Sequencing (NGS), on Ion Torrent PGM...
April 17, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28385103/effect-of-orthognathic-surgery-on-masticatory-performance-and-muscle-activity-in-skeletal-class-iii-patients
#2
Deniz Celakil, Fulya Ozdemir, Feyza Eraydin, Tamer Celakil
OBJECTIVE: To evaluate the effect of double jaw orthognathic surgery (OGS) on masticatory performance and electromyographic activity of the masseter and anterior temporal muscles in skeletal Class III patients. METHODS: Individuals were instructed to chew standardized round tablets of silicone impression material. The cumulative weight percentage was calculated using sieve analysis. The bilateral surface electromyographic activity of the muscles was evaluated. Following the orthodontic treatment, a stabilization splint was fabricated...
April 7, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28376941/systematic-evaluation-of-skeletal-fractures-caused-by-induction-of-electroconvulsive-seizures-in-rat-state-a-need-for-attention-and-refinement-of-the-procedure
#3
Maria Ekemohn, Marie Kjær Nielsen, Matilda Grahm, Anders Tingström, Birgitte Kousholt, Gregers Wegener, Cecilie Bay-Richter
OBJECTIVE: Electroconvulsive therapy (ECT) is one of the most efficient treatments for major depression. Electroconvulsive seizures (ECS), the animal model of ECT, is widely used to study both mechanisms of action and adverse effects of ECT. As the treatment itself serves as an instant anaesthetic and anaesthetic agents may affect memory functions and behaviour, ECS is traditionally administered without muscle relaxation and anaesthesia. A major problem of unmodified ECS, which has only been addressed peripherally in the literature, is that some animals sustain spinal fractures and subsequent hind leg paralysis (paraplegia)...
April 5, 2017: Acta Neuropsychiatrica
https://www.readbyqxmd.com/read/28371514/bi-layer-silk-fibroin-grafts-support-functional-esophageal-repair-in-a-rodent-model-of-caustic-injury
#4
Khalid Algarrahi, Debra Franck, Alyssa Savarino, Vivian Cristofaro, Xuehui Yang, Saif Affas, Frank-Mattias Schäfer, Maryrose P Sullivan, Carlos R Estrada, Joshua R Mauney
Surgical repair of caustic esophageal injuries with autologous gastrointestinal segments is often associated with dysmotility, dysphagia, and donor site morbidity and therefore alternative graft options are needed. Bi-layer silk fibroin (BLSF) scaffolds were assessed for their ability to support functional restoration of damaged esophageal tissues in a rat model of onlay esophagoplasty. Transient exposure of isolated esophageal segments with 40% NaOH led to corrosive esophagitis and a 91% reduction in the luminal cross-sectional area of damaged sites...
March 30, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28352940/cytochrome-p450-epoxygenase-derived-epoxyeicosatrienoic-acids-contribute-to-insulin-sensitivity-in-mice-and-in-humans
#5
Mahesha H Gangadhariah, Blake W Dieckmann, Louise Lantier, Li Kang, David H Wasserman, Manuel Chiusa, Charles F Caskey, Jaime Dickerson, Pengcheng Luo, Jorge L Gamboa, Jorge H Capdevila, John D Imig, Chang Yu, Ambra Pozzi, James M Luther
AIMS/HYPOTHESIS: Insulin resistance is frequently associated with hypertension and type 2 diabetes. The cytochrome P450 (CYP) arachidonic acid epoxygenases (CYP2C, CYP2J) and their epoxyeicosatrienoic acid (EET) products lower blood pressure and may also improve glucose homeostasis. However, the direct contribution of endogenous EET production on insulin sensitivity has not been previously investigated. In this study, we tested the hypothesis that endogenous CYP2C-derived EETs alter insulin sensitivity by analysing mice lacking CYP2C44, a major EET producing enzyme, and by testing the association of plasma EETs with insulin sensitivity in humans...
March 28, 2017: Diabetologia
https://www.readbyqxmd.com/read/28349262/%C3%AE-alanine-supplementation-improves-in-vivo-fresh-and-fatigued-skeletal-muscle-relaxation-speed
#6
Rebecca Louise Jones, Cleveland Thomas Barnett, Joel Davidson, Billy Maritza, William D Fraser, Roger Harris, Craig Sale
PURPOSE: In fresh muscle, supplementation with the rate-limiting precursor of carnosine, β-alanine (BA), results in a decline in muscle half-relaxation time (HRT) potentially via alterations to calcium (Ca(2+)) handling. Accumulation of hydrogen cation (H(+)) has been shown to impact Ca(2+) signalling during muscular contraction, carnosine has the potential to serve as a cytoplasmic regulator of Ca(2+) and H(+) coupling, since it binds to both ions. The present study examined the effect of BA supplementation on intrinsic in-vivo isometric knee extensor force production and muscle contractility in both fresh and fatigued human skeletal muscle assessed during voluntary and electrically evoked (nerve and superficial muscle stimulation) contractions...
March 27, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28340259/sedative-prescriptions-are-common-at-opioid-initiation-an-observational-study-in-the-veterans-health-administration
#7
Hilary J Mosher, Kelly K Richardson, Brian C Lund
Background.:  Concurrent use of sedatives, especially anxiolytics, and opioids is associated with increased risk of medication-related harms. To the extent that multiple prescribers are involved, approaches to influence patterns of coprescribing will differ from those to influence prescribing within a single drug class. Objectives.:  Describe the proportion of new opioid recipients with concurrent sedative medications at opioid initiation and determine whether these medications were prescribed by the same prescriber...
March 18, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28338578/spinal-cord-is-the-primary-site-of-action-for-skeletal-muscle-relaxation-by-sevoflurane
#8
Peng Zhang, Pingliang Yang, Ling Ye, Tao Zhu
STUDY DESIGN: A randomized, in vivo study was performed to explore the skeletal muscle relaxation action site of sevoflurane. OBJECTIVE: The aim of this study was to investigate the skeletal muscle relaxation action of sevoflurane by a modified selective anesthetics delivery rabbit model. SUMMARY OF BACKGROUND DATA: The action site and mechanisms of skeletal muscle relaxation caused by sevoflurane was unclear. So a modified selective anesthetics delivery model was used...
March 23, 2017: Spine
https://www.readbyqxmd.com/read/28332039/combined-quantification-of-fatty-infiltration-t-1-relaxation-times-and-t-2-relaxation-times-in-normal-appearing-skeletal-muscle-of-controls-and-dystrophic-patients
#9
Benjamin Leporq, Arnaud Le Troter, Yann Le Fur, Emmanuelle Salort-Campana, Maxime Guye, Olivier Beuf, Shahram Attarian, David Bendahan
OBJECTIVES: To evaluate the combination of a fat-water separation method with an automated segmentation algorithm to quantify the intermuscular fatty-infiltrated fraction, the relaxation times, and the microscopic fatty infiltration in the normal-appearing muscle. MATERIALS AND METHODS: MR acquisitions were performed at 1.5T in seven patients with facio-scapulo-humeral dystrophy and eight controls. Disease severity was assessed using commonly used scales for the upper and lower limbs...
March 22, 2017: Magma
https://www.readbyqxmd.com/read/28326563/early-structural-and-functional-signature-of-3-day-human-skeletal-muscle-disuse-using-the-dry-immersion-model
#10
Rémi Demangel, Loïc Treffel, Guillaume Py, Thomas Brioche, Allan F Pagano, Marie-Pierre Bareille, Arnaud Beck, Laurence Pessemesse, Robin Candau, Claude Gharib, Angèle Chopard, Catherine Millet
Microgravity and hypoactivity are associated with skeletal muscle deconditioning. The decrease of muscle mass is an exponential decay with major changes in the first days. The purpose of the study was to dissect out the effects of a short-term 3-day dry immersion (DI) on human quadriceps muscle function and structure. The DI model, by suppressing all support zones, accurately reproduces the effects of microgravity. Twelve healthy volunteers (32 ± 5 yrs) completed 3 days of DI. Muscle function was investigated through maximal voluntary contraction (MVC) tests and muscle viscoelasticity...
March 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28325152/synthesis-computational-and-pharmacological-evaluation-of-n-2-benzoyl-4-chlorophenyl-2-4-substituted-phenyl-piperazin-1-yl-acetamides-as-cns-agents
#11
Shweta Verma, Surendra Kumar, Sushil Kumar
A series of new N-(2-benzoyl-4-chlorophenyl)-2-(4-(substituted phenyl) piperazin-1-yl) acetamides (3a-j) have been synthesized by the chloroacetylation of 2-amino-5-chlorbenzophenone which was further reacted with substituted phenylpiperazine. The chemical structures of the compounds were confirmed on the basis of their TLC, IR, 1HNMR, 13CNMR and by elemental analysis. The physicochemical similarity of the target compounds with respect to standard drug diazepam was assessed by calculating from a set of physicochemical properties using software programs...
March 21, 2017: Central Nervous System Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/28321637/the-time-course-of-short-term-hypertrophy-in-the-absence-of-eccentric-muscle-damage
#12
Matt S Stock, Jacob A Mota, Ryan N DeFranco, Katherine A Grue, A Unique Jacobo, Eunhee Chung, Jordan R Moon, Jason M DeFreitas, Travis W Beck
BACKGROUND: It has been proposed that the increase in skeletal muscle mass observed during the initial weeks of initiating a resistance training program is concomitant with eccentric muscle damage and edema. PURPOSE: We examined the time course of muscle hypertrophy during 4 weeks of concentric-only resistance training. METHODS: Thirteen untrained men performed unilateral concentric-only dumbbell curls and shoulder presses twice per week for 4 weeks...
March 20, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28288325/trochanteric-hip-fracture-during-cardioversion-therapy-a-case-report
#13
J Gómez, J Albareda, L Ezquerra
INTRODUCTION: Trochanteric hip fractures in elderly patients with osteoporosis are commonly caused by low energy trauma. The cardioversion therapy is an extremely rare cause of this type of fracture. PRESENTATION OF CASE: We report the case of a woman with hip fracture after cardioversion. DISCUSSION: We discuss the production mechanism of this injury and the importance of the care of the osteoporotic bone under these therapies. CONCLUSION: The propofol sedation should be complemented with skeletal muscle relaxants in the cardioversion therapy to avoid hip fracture in select patients with osteoporosis...
February 27, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28272142/early-development-identification-of-mode-of-action-and-use-of-dantrolene-sodium-the-role-of-keith-ellis-ph-d
#14
Neil A Pollock, Roslyn G Machon, Henry Rosenberg
Dantrolene-a nitrofurantoin derivative-was developed by Snyder et al. in 1967. After initial discovery of its muscle relaxation potential, investigations in a number of species demonstrated dose-dependent reductions in skeletal muscle tone that were long lasting, relatively nontoxic, and free of adverse effects such as respiratory impairment. Ellis et al. then published a number of papers investigating the means by which dantrolene produced these effects. Using a series of classic physiologic models, Ellis investigated potential sites of action for the new drug, eventually narrowing this down to the intracellular calcium-release mechanism...
May 2017: Anesthesiology
https://www.readbyqxmd.com/read/28270443/skeletal-muscle-pgc-1%C3%AE-signaling-is-sufficient-to-drive-an-endurance-exercise-phenotype-and-to-counteract-components-of-detraining-in-mice
#15
Samuel Lee, Teresa C Leone, Lisa Rogosa, John Rumsey, Julio Ayala, Paul M Coen, Robert H Fitts, Rick B Vega, Daniel P Kelly
PPARgamma coactivator-1 (PGC-1) α; ;and β serve as master transcriptional regulators of muscle mitochondrial functional capacity and are capable of enhancing muscle endurance when overexpressed in mice. We sought to determine whether muscle-specific transgenic overexpression of PGC-1β affects the detraining response following endurance training. First, we established and validated a mouse exercise training/detraining protocol. Secondly, we found that overexpression of PGC-1β in skeletal muscle of sedentary mice fully recapitulated the training response using multiple physiological and gene expression endpoints...
March 7, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28246924/jsa-guideline-for-the-management-of-malignant-hyperthermia-crisis-2016
#16
REVIEW
(no author information available yet)
Malignant hyperthermia (MH) can be fatal if the crisis is not appropriately treated. It is an inherited disease usually triggered by the administration of volatile inhalational anesthetics and/or succinylcholine, a muscle relaxant. In a patient with suspected MH, the mechanism of calcium release from storage in the sarcoplasmic reticulum in the skeletal muscle is abnormally accelerated. Unexplained hypercarbia representing >55 mmHg of end-tidal carbon dioxide, tachycardia, and muscle rigidity (including masseter muscle rigidity) are early signs of the initiation of MH, because the metabolism is accelerated...
February 28, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28223172/a-simple-model-of-cardiac-muscle-for-multiscale-simulation-passive-mechanics-crossbridge-kinetics-and-calcium-regulation
#17
Fyodor A Syomin, Andrey K Tsaturyan
A simple model of cardiac muscle was designed for multiscale simulation of heart mechanics. Relaxed cardiac muscle was described as a transversally isotropic hyperelastic material. Active tension caused by actin-myosin crossbridges depends on the ensemble averaged strain of myosin heads bound to actin. Calcium activation was modeled by Ca(2+) binding to troponin-C. To account for the dependence of troponin affinity for Ca(2+) on myosin heads strongly bound to actin, the kinetics of troponin binding to Ca(2+) in the overlap zone of the thin and thick filaments and outside it were separated...
February 20, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28195849/detection-and-alterations-of-acetylcarnitine-in-human-skeletal-muscles-by-1h-mrs-at-7-t
#18
Radka Klepochová, Ladislav Valkovič, Martin Gajdošík, Thomas Hochwartner, Harald Tschan, Michael Krebs, Siegfried Trattnig, Martin Krššák
OBJECTIVES: The aims of this study were to detect the acetylcarnitine resonance line at 2.13 ppm in the human vastus lateralis and soleus muscles, assess T1 and T2 relaxation times, and investigate the diurnal and exercise-related changes in absolute concentration noninvasively, using proton magnetic resonance spectroscopy at 7 T. MATERIALS AND METHODS: All measurements were performed on a 7 T whole-body Magnetom MR system with a 28-channel knee coil. Five healthy, moderately trained volunteers participated in the assessment of the detectability, repeatability, and relaxation times of acetylcarnitine...
February 10, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28194519/electromechanical-delays-during-a-fatiguing-exercise-and-recovery-in-patients-with-myotonic-dystrophy-type-1
#19
Fabio Esposito, Emiliano Cè, Susanna Rampichini, Elena Monti, Eloisa Limonta, Barbara Fossati, Giovanni Meola
PURPOSE: The partitioning of the electromechanical delay by an electromyographic (EMG), mechanomyographic (MMG) and force combined approach can provide further insight into the electrochemical and mechanical processes involved with skeletal muscle contraction and relaxation. The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with myotonic dystrophy type 1 (DM1), who present at the skeletal muscle level fibres rearrangement, muscle weakness and myotonia, especially in the distal muscles...
March 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28192790/systemic-pharmacologic-therapies-for-low-back-pain-a-systematic-review-for-an-american-college-of-physicians-clinical-practice-guideline
#20
Roger Chou, Richard Deyo, Janna Friedly, Andrea Skelly, Melissa Weimer, Rochelle Fu, Tracy Dana, Paul Kraegel, Jessica Griffin, Sara Grusing
Background: A 2007 American College of Physicians guideline addressed pharmacologic options for low back pain. New evidence and medications have now become available. Purpose: To review the current evidence on systemic pharmacologic therapies for acute or chronic nonradicular or radicular low back pain. Data Sources: Ovid MEDLINE (January 2008 through November 2016), Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and reference lists...
April 4, 2017: Annals of Internal Medicine
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