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neuromuscular disorders

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https://www.readbyqxmd.com/read/29334465/design-of-mini-nucleic-acid-probe-for-cooperative-binding-of-rna-repeated-transcript-associated-with-myotonic-dystrophy-type-1
#1
Wei-Che Hsieh, Raman Bahal, Shivaji Thadke, Kirti Bhatt, Krzysztof Sobczak, Charles A Thornton, Danith H Ly
Toxic RNAs containing expanded trinucleotide repeats are the cause of many neuromuscular disorders, one being myotonic dystrophy type 1 (DM1). DM1 is triggered by CTG-repeat expansion in the 3'-UTR of the DMPK gene, resulting in toxic-gain of RNA function through sequestration of MBNL1 protein, among others. Herein we report the development of a relatively short MPPNA probe, two triplet-repeats in length, containing terminal pyrene moieties, that is capable of binding rCUG-repeats in a sequence-specific and selective manner...
January 15, 2018: Biochemistry
https://www.readbyqxmd.com/read/29334041/autoantibodies-to-low-density-lipoprotein-receptor-related-protein-4-in-double-seronegative-myasthenia-gravis-a-systematic-review
#2
Stephen Bacchi, Philippe Kramer, Colin Chalk
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction in which a clinical diagnosis may be confirmed with serological testing. The most common autoantibodies used to support a diagnosis of MG are anti-acetylcholine receptor antibodies and anti-muscle-specific tyrosine kinase antibodies. In cases in which both of these autoantibodies are negative (termed double-seronegative [dSNMG]), other autoantibodies such as low-density lipoprotein receptor-related protein 4 (LRP4) may be used to aid in diagnosis...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29329103/analysis-of-anti-ganglioside-antibodies-by-a-line-immunoassay-in-patients-with-chronic-inflammatory-demyelinating-polyneuropathies-cidp
#3
Juliane Klehmet, Stefanie Märschenz, Klemens Ruprecht, Benjamin Wunderlich, Thomas Büttner, Rico Hiemann, Dirk Roggenbuck, Andreas Meisel
BACKGROUND: Unlike for acute immune-mediated neuropathies (IN), anti-ganglioside autoantibody (aGAAb) testing has been recommended for only a minority of chronic IN yet. Thus, we used a multiplex semi-quantitative line immunoassay (LIA) to search for aGAAb in chronic-inflammatory demyelinating polyneuropathy (CIDP) and its clinical variants. METHODS: Anti-GAAb to 11 gangliosides and sulfatide (SF) were investigated by LIA in 61 patients with IN (27 typical CIDP, 12 distal-acquired demyelinating polyneuropathy, 6 multifocal-acquired demyelinating sensory/motor polyneuropathy, 10 sensory CIDP, 1 focal CIDP and 5 multifocal-motoric neuropathy), 40 with other neuromuscular disorders (OND) (15 non-immune polyneuropathies, 25 myasthenia gravis), 29 with multiple sclerosis (MS) and 54 healthy controls (HC)...
January 12, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29325902/which-data-should-be-tracked-in-forward-dynamic-optimisation-to-best-predict-muscle-forces-in-a-pathological-co-contraction-case
#4
Colombe Bélaise, Benjamin Michaud, Fabien Dal Maso, Katja Mombaur, Mickaël Begon
The choice of the cost-function for predicting muscle forces during a movement remains a challenge, especially in patients with neuromuscular disorders. Forward dynamics-based optimisations mainly track joint kinematics or torques, combined with a least-excitation criterion. Tracking marker trajectories and/or electromyography (EMG) has rarely been proposed. Our objective was to determine the best tracking objective-function to accurately predict the upper-limb muscle forces. A musculoskeletal model was created and EMG was simulated to obtain a reference movement - a shoulder abduction...
January 4, 2018: Journal of Biomechanics
https://www.readbyqxmd.com/read/29325837/outcomes-of-total-knee-arthroplasty-in-degenerative-osteoarthritic-knee-with-genu-recurvatum
#5
Seung-Suk Seo, Chang-Wan Kim, Chang-Rack Lee, Jin-Hyuk Seo, Do-Hun Kim, Ok-Gul Kim
BACKGROUND: This study aimed to assess the incidence of genu recurvatum without neuromuscular disorders in knees that underwent navigation-assisted total knee arthroplasty (TKA), to evaluate short-term radiologic and clinical results of navigation-assisted TKA in genu recurvatum, and to evaluate differences in results according to the degree of pre-operative hyperextension and type of implant and insert. METHODS: This study retrospectively reviewed 510 knees that underwent navigation-assisted TKA from January 2005 to December 2011...
January 9, 2018: Knee
https://www.readbyqxmd.com/read/29323790/rna-templated-concatenation-of-triplet-nucleic-acid-probe
#6
Danith H Ly, Raman Bahal, Arunava Manna, Wei-Che Hsieh, Shivaji A Thadke, Gopalsamy Sureshkumar
Template-directed synthesis offers several distinct benefits over conventional laboratory creation, including unsurpassed reaction rate and selectivity. While it is central to many biological processes, such an approach has rarely been applied to the in-situ synthesis and recognition of biomedically relevant target. Towards this goal, we report the development of a three-codon nucleic acid probe containing C-terminal thioester and N-terminal cysteine that is capable of undergoing template-directed oligomerization in the presence of RNA target, and self-deactivation in its absence...
January 11, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29318413/evaluation-of-postoperative-fever-after-surgical-correction-of-neuromuscular-scoliosis-implication-on-management
#7
Mohamed Abdelhamid Ali Yousef, Scott Rosenfeld
BACKGROUND: Scoliosis is a common deformity in patients with neuromuscular disorders which usually necessitates surgical correction. Patients with neuromuscular scoliosis are characterized by increased incidence of associated medical co-morbidities and higher postoperative complication rate; therefore, these patients are often managed with a wide multidisciplinary care team. Postoperative fever is a frequent complication after surgery which is often routinely investigated using different workup tests to rule out infection...
January 9, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29317220/acamprosate-rescues-neuronal-defects-in-the-drosophila-model-of-fragile-x-syndrome
#8
Russell L Hutson, Rachel L Thompson, Andrew P Bantel, Charles R Tessier
AIMS: Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene. This study investigated the ability of acamprosate to rescue cellular, molecular and behavioral defects in the Drosophila model of FXS. MAIN METHODS: A high (100μM) and low (10μM) dose of acamprosate was fed to Drosophila FXS (dfmr1 null) or genetic control (w1118) larvae and then analyzed in multiple paradigms...
January 6, 2018: Life Sciences
https://www.readbyqxmd.com/read/29317055/scapholunate-interosseous-ligament-dysfunction-as-a-source-of-elbow-pain-syndromes-possible-mechanisms-and-implications-for-hand-surgeons-and-therapists
#9
Cigdem Ayhan, Seval Tanrıkulu, Gursel Leblebicioglu
Elbow pain syndromes are common upper extremity musculoskeletal disorders, and they are usually associated with repetitive occupational exposure. Ligaments are often one of the sources of musculoskeletal disorders because of their mechanical and neurological properties. The wrist ligaments are some of the ligaments most vulnerable to occupational exposure. Since most occupational tasks require wrist extension for handling tools and loading, the scapholunate interosseous ligament (SLIL) bears greater strain during loading, which results in creep deformation and hysteresis...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29316850/demographics-and-clinical-characteristics-of-primary-lateral-sclerosis-case-series-and-a-review-of-literature
#10
Ramnath Santosh Ramanathan, Sandeep Rana
AIM: Primary lateral sclerosis (PLS) is a form of motor neuron disease involving only upper motor neurons. In some patients presenting as PLS, the disease progresses to involve lower motor neurons and thereby converting to amyotrophic lateral sclerosis (ALS). However, pure forms of PLS do exist. Our aim was to study epidemiological and clinical characteristics of pure PLS patients treated at our neuromuscular clinic. METHODS: We retrospectively reviewed 15 patients from July 2011 to October 2014 with PLS treated at the neuromuscular disorder clinic at our hospital...
January 10, 2018: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29315608/clinical-and-research-strategies-for-limb-girdle-congenital-myasthenic-syndromes
#11
REVIEW
Emily O'Connor, Ana Töpf, René Zahedi, Sally Spendiff, Daniel Cox, Andreas Roos, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable muscle weakness due to defective signal transmission at the neuromuscular junction, a specialized synapse between peripheral motor neurons and their target muscle fibers. There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb-girdle pattern of muscle weakness and are thus classed as LG-CMS. Next-generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG-CMS patients...
January 5, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#12
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29301380/the-gut-brain-axis-and-the-microbiome-clues-to-pathophysiology-and-opportunities-for-novel-management-strategies-in-irritable-bowel-syndrome-ibs
#13
REVIEW
Eamonn M M Quigley
Irritable bowel syndrome (IBS) is one of the most common of all medical disorders worldwide and, while for some it represents no more than a nuisance, for others it imposes significant negative impacts on daily life and activities. IBS is a heterogeneous disorder and may well have a number of causes which may lie anywhere from the external environment to the contents of the gut lumen and from the enteric neuromuscular apparatus and the gut immune system to the central nervous system. Consequently, the paradigm of the gut-brain axis, which includes the participation of these various factors, has proven a useful model to assist clinicians and patients alike in understanding the genesis of symptoms in IBS...
January 3, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29299226/mobility-disorders-and-pain-interrelations-that-need-new-research-concepts-and-advanced-clinical-commitments
#14
Sascha Sajer
This Perspective will discuss topics recently suggested by Prof. Helmut Kern, Vienna, Austria, to advance the research activities of his team, that is: Topic A, 10 years post RISE; Topic B, New research for new solutions on old research questions; Topic C, Working groups on nerve regeneration, training-parameters of seniors in different ages, muscle adaptation; and studies of connective tissue and cartilage. This Perspective summarizes some of the basic concepts and of the evidence-based tools for developing further translational research activities...
December 5, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29298851/atypical-periodic-paralysis-and-myalgia-a-novel-ryr1-phenotype
#15
Emma Matthews, Christoph Neuwirth, Fatima Jaffer, Renata S Scalco, Doreen Fialho, Matt Parton, Dipa Raja Rayan, Karen Suetterlin, Richa Sud, Roland Spiegel, Rachel Mein, Henry Houlden, Andrew Schaefer, Estelle Healy, Jacqueline Palace, Ros Quinlivan, Susan Treves, Janice L Holton, Heinz Jungbluth, Michael G Hanna
OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations. METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1-related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed...
January 3, 2018: Neurology
https://www.readbyqxmd.com/read/29290580/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for-diagnosis-rehabilitation-orthopedic-and-nutritional-care
#16
Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Ying Qian, Thomas Sejersen
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29288631/gait-disorders
#17
REVIEW
Jessica M Baker
Walking is an extraordinarily complex task requiring integration of the entire nervous system, making gait susceptible to a variety of underlying neurological abnormalities. Gait disorders are particularly prevalent in the elderly and increase fall risk. In this review, we discuss an approach to the examination of gait, and highlight key features of common gait disorders and their underlying causes. We review gaits due to lesions of motor systems (spasticity and neuromuscular weakness), the cerebellum and sensory systems (ataxia), parkinsonism, and frontal lobes and discuss the remarkably diverse phenomenology of functional (psychogenic) gait disorders...
December 27, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/29288497/the-role-of-trna-synthetases-in-neurological-and-neuromuscular-disorders
#18
REVIEW
Veronika Boczonadi, Matthew J Jennings, Rita Horvath
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNAs with their cognate amino acids, therefore essential for the first step in protein synthesis. Although the majority of protein synthesis happens in the cytosol, an additional translation apparatus is required to translate the 13 mitochondrial DNA-encoded proteins important in oxidative phosphorylation. Most ARS genes in these cellular compartments are distinct, but two genes are common, encoding aminoacyl-tRNA synthetases of glycine (GARS) and lysine (KARS) in both mitochondria and the cytosol...
December 30, 2017: FEBS Letters
https://www.readbyqxmd.com/read/29278898/diaphragm-pathophysiology-and-ultrasound-imaging-in-neuromuscular-disorders
#19
Abdallah Fayssoil, Anthony Behin, Adam Ogna, Dominique Mompoint, Helge Amthor, Bernard Clair, Pascal Laforet, Arnaud Mansart, Helene Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, Bruno Eymard, Frederic Lofaso, Djillali Annane
Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29260486/an-evidence-based-community-engaged-approach-to-develop-an-interactive-deliberation-tool-for-pediatric-neuromuscular-trials
#20
Rebecca R Moultrie, Megan A Lewis, Ryan S Paquin, Ann Lucas, Jill Jarecki, Holly L Peay
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process...
December 20, 2017: Journal of Genetic Counseling
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