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https://www.readbyqxmd.com/read/30006696/impact-of-missense-mutations-in-survival-motor-neuron-protein-smn1-leading-to-spinal-muscular-atrophy-sma-a-computational-approach
#1
P Sneha, Tanzila U Zenith, Ummay Salma Abu Habib, Judith Evangeline, D Thirumal Kumar, C George Priya Doss, R Siva, Hatem Zayed
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (SMN1). The molecular pathology of missense mutations in SMN1 is not thoroughly investigated so far. Therefore, we collected all missense mutations in the SMN1 protein, using all possible search terms, from three databases (PubMed, PMC and Google Scholar). All missense mutations were subjected to in silico pathogenicity, conservation, and stability analysis tools. We used statistical analysis as a QC measure for validating the specificity and accuracy of these tools...
July 13, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/30006410/cervical-puncture-to-deliver-nusinersen-in-patients-with-spinal-muscular-atrophy
#2
Aravindhan Veerapandiyan, Ria Pal, Stephen D'Ambrosio, Iris Young, Katy Eichinger, Erin Collins, Per-Lennart Westesson, Jennifer Kwon, Emma Ciafaloni
OBJECTIVE: To report our experience delivering intrathecal nusinersen through cervical puncture in patients with spinal muscular atrophy (SMA) with no lumbar access. BACKGROUND: SMA is a neuromuscular disorder characterized by profound muscle weakness, atrophy, and paralysis due to degeneration of the anterior horn cells. Nusinersen, the first Food and Drug Administration-approved treatment for SMA, is administered intrathecally via lumbar puncture; however, many patients with SMA have scoliosis or solid spinal fusion with hardware that makes lumbar access impossible...
July 13, 2018: Neurology
https://www.readbyqxmd.com/read/30006288/anti-achr-musk-and-lrp4-antibodies-coexistence-a-rare-and-distinct-subtype-of-myasthenia-gravis-from-indian-subcontinent
#3
Suresh C Bokoliya, Veeramani Preethish Kumar, Saraswati Nashi, Kiran Polavarapu, Atchayaram Nalini, Shripad A Patil
BACKGROUND: Myasthenia gravis is B-cell mediated autoimmune disease and is associated with antibodies against the acetylcholine receptor (AChR), muscle-specific kinase (MuSK) and lipoprotein-related protein 4 (LRP4) in the postsynaptic membrane at the neuromuscular junction. There are few studies on the concurrent presence of two positive antibodies in the sera of patients with myasthenia gravis. CASE DESCRIPTION: A 32-year male admitted to the hospital with progressive neuromuscular weakness...
July 10, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/30005853/efficacy-and-patient-satisfaction-in-the-use-of-subcutaneous-immunoglobulin-immunotherapy-for-the-treatment-of-auto-immune-neuromuscular-diseases
#4
REVIEW
Taylor Pindi Sala, Jean-Charles Crave, Martin Duracinsky, Lepira Bompeka, Abir Tadmouri, Olivier Chassany, Patrick Cherin
We reviewed the efficacy of SCIg administration in terms of muscle strength maintenance and patient satisfaction comparing with IVIg in the treatment of auto-immune neuromuscular diseases. A systematic review was conducted, and identified studies from databases (PUBMED, EMBASE, EBSCO, Web of Science and Google Scholar) which were analyzed. The methodological quality of the selected publications was evaluated using the Newcastle-Ottawa Scale. Data were extracted from a total of 11 studies Fixed and random-effect model meta-analyses were performed...
July 10, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29993485/electrophysiological-muscle-classification-using-multiple-instance-learning-and-unsupervised-time-and-spectral-domain-analysis
#5
Tahereh Kamali, Daniel W Stashuk
OBJECTIVE: Electrophysiological muscle classification (EMC) is a crucial step in the diagnosis of neuromuscular disorders. Existing quantitative techniques are not sufficiently robust and accurate to be reliably clinically used. Here, EMC is modelled as a multiple instance learning (MIL) problem and a system to infer unsupervised motor unit potential (MUP) labels and create supervised muscle classifications is presented. METHODS: The system has five main steps: 1) MUP representation using morphological, stability, and near fiber parameters as well as spectral features extracted from wavelet coefficients; 2) MUP feature selection using unsupervised Laplacian scores; 3) MUP clustering using neighborhood distance entropy consistency to find representations of MUP normality and abnormality; 4) Muscle representation by embedding its MUP cluster associations in a feature vector; and 5) Muscle classification using support vector machines or random forests...
February 5, 2018: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/29993468/separation-of-subcutaneous-fat-from-muscle-in-surface-electrical-impedance-myography-measurements-using-model-component-analysis
#6
Hyeuknam Kwon, Wasim Malik, Seward B Rutkove, Benjamin Sanchez
OBJECTIVE: Electrical impedance myography (EIM) is a relatively new technique to assess neuromuscular disorders (NMD). Although the application of EIM using surface electrodes (sEIM) has been adopted by the neurology community in recent years to evaluate NMD status, sEIM's sensitivity as a biomarker of skeletal muscle condition is impacted by subcutaneous fat (SF) tissue. Here, we develop a method able to remove the contribution of SF from sEIM data. METHODS: We evaluate independent component analysis (ICA) and principal component analysis (PCA) for this purpose...
May 23, 2018: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/29987963/analyzing-walking-speeds-with-ankle-and-wrist-worn-accelerometers-in-a-cohort-with-myotonic-dystrophy
#7
Aura Cecilia Jimenez-Moreno, Sarah J Charman, Nikoletta Nikolenko, Maxwell Larweh, Chris Turner, Grainne Gorman, Hanns Lochmüller, Michael Catt
BACKGROUND: Accelerometers are accurate tools to assess movement and physical activity. However, interpreting standardly used outputs is not straightforward for populations with impaired mobility. METHODS: The applicability of GENEActiv was explored in a group of 30 participants with myotonic dystrophy and compared to a group of 14 healthy-controls. All participants performed a set of tests while wearing four different accelerometers (wrists and ankles): [1] standing still; [2] ten-meters walk test; [3] six-minutes walking test; and, [4] ten-meters walk/run test...
July 10, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29985328/in-vivo-electrophysiological-measurement-of-compound-muscle-action-potential-from-the-forelimbs-in-mouse-models-of-motor-neuron-degeneration
#8
Eveliina Pollari, Robert Prior, Wim Robberecht, Philip Van Damme, Ludo Van Den Bosch
Assessing the functionality of the nerve axon provides detailed information on the progression of neuromuscular disorders. Electrophysiological recordings provide a sensitive approach to measure nerve conduction in humans and rodent models. To broaden the technical possibilities for electromyography in mice, the measurement of compound muscle action potentials (CMAPs) from the brachial plexus nerve in the forelimb using needle electrodes is described here. CMAP recordings after stimulating the sciatic nerve in hindlimbs have been previously described...
June 15, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29982483/light-modulation-ameliorates-expression-of-circadian-genes-and-disease-progression-in-spinal-muscular-atrophy-mice
#9
Lisa M Walter, Christiane E Koch, Corinne A Betts, Nina Ahlskog, Katharina E Meijboom, Tirsa L E van Westering, Gareth Hazell, Amarjit Bhomra, Peter Claus, Henrik Oster, Matthew J A Wood, Melissa Bowerman
Physiology and behaviour are critically dependent on circadian regulation via a core set of clock genes, dysregulation of which leads to metabolic and sleep disturbances. Metabolic and sleep perturbations occur in spinal muscular atrophy (SMA), a neuromuscular disorder caused by loss of the survival motor neuron (SMN) protein and characterised by motor neuron loss and muscle atrophy. We therefore investigated the expression of circadian rhythm genes in various metabolic tissues and spinal cord of the Taiwanese Smn-/-;SMN2 SMA animal model...
July 4, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29973226/comprehensive-genetic-characteristics-of-dystrophinopathies-in-china
#10
Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao
BACKGROUND: Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is essential not only to provide more information about the prevalence and natural history of the disease, but also to collect genetic data for analyzing the mutational spectrum. This information is extremely beneficial for basic scientific research, genetic diagnosis, trial planning, clinical care, and gene therapy...
July 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29970614/pyruvate-dehydrogenase-complex-deficiency-is-linked-to-regulatory-loop-disorder-in-the-%C3%AE-v138m-variant-of-human-pyruvate-dehydrogenase
#11
Matthew J Whitley, Palaniappa Arjunan, Natalia S Nemeria, Lioubov G Korotchkina, Yun-Hee Park, Mulchand Patel, Frank Jordan, William F Furey
The pyruvate dehydrogenase multienzyme complex (PDHc) connects glycolysis to the tricarboxylic acid cycle by producing acetyl-CoA via the decarboxylation of pyruvate.  Because of its pivotal role in glucose metabolism, this complex is closely regulated in mammals by reversible phosphorylation, the modulation of which is of interest in treating cancer, diabetes, and obesity.  Mutations such as that leading to the αV138M variant in pyruvate dehydrogenase, the pyruvate-decarboxylating PDHc E1 component, can result in PDHc deficiency, an inborn error of metabolism that results in an array of symptoms such as lactic acidosis, progressive cognitive and neuromuscular deficits, and even death in infancy or childhood...
July 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29970266/transcultural-adaptation-and-validation-of-the-spanish-language-version-of-activlim-in-adults-with-inherited-myopathies-using-the-rasch-model
#12
I Pagola, L Torné, I Jericó, B Ibáñez
INTRODUCTION: ACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies. PATIENTS AND METHOD: A Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies...
June 30, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29969581/terminal-regions-confer-plasticity-to-the-tetrameric-assembly-of-human-hspb2-and-hspb3
#13
Alice R Clark, Wilma Vree Egberts, Frances D L Kondrat, Gillian R Hilton, Nicholas J Ray, Ambrose R Cole, John A Carver, Justin L P Benesch, Nicholas H Keep, Wilbert C Boelens, Christine Slingsby
Heterogeneity in small heat shock proteins (sHsps) spans multiple spatiotemporal regimes - from fast fluctuations of part of the protein, to conformational variability of tertiary structure, plasticity of the interfaces, and polydispersity of the inter-converting, and co-assembling oligomers. This heterogeneity and dynamic nature of sHsps has significantly hindered their structural characterisation. Atomic-coordinates are particularly lacking for vertebrate sHsps, where most available structures are of extensively truncated homomers...
June 30, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29968191/-new-possibilities-with-retroflexed-functional-endoscopy
#14
REVIEW
I F Herrmann, M Gadebusch Bondio, D Domagk, M Strahl, C Arens
BACKGROUND: Anterograde transnasal flexible endoscopy of the pharynx, larynx, and proximal trachea without sedation has been established since the 1990s. Retroflexed endoscopic functional analysis has recently been introduced. OBJECTIVES: Adding retroflexed functional endoscopy from the oral cavity up to the duodenum to anterograde diagnostics allows the precise demonstration of how different factors interact in a complex way, e. g., in case of dysphagia or pathological reflux...
July 2018: HNO
https://www.readbyqxmd.com/read/29966189/limb-girdle-muscular-dystrophy-type-2b-an-unusual-cause-of-proximal-muscular-weakness-in-saudi-arabia
#15
Hussein Algahtani, Bader Shirah, Ali H Alassiri, Ben Attia Habib, Rakan Almuhanna, Mohamed Firoze Ahamed
Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis...
June 19, 2018: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/29962641/general-anesthesia-using-supraglottic-airway-device-in-a-myasthenic-patient-undergoing-reverse-shoulder-arthroplasty
#16
Shaila S Kamath, Julie C R Misquith
Myasthenia gravis (MG) is a neuromuscular disorder characterized by weakness and fatigability of skeletal muscles. The decrease in the number of acetylcholine receptors results in decreased efficiency of neuromuscular transmission. Although acetylcholine is released normally, it produces small end-plate potentials that fail to trigger muscle action potentials. Failure of transmission at many neuromuscular junctions results in weakness of muscle contraction. This also makes them susceptible to neuromuscular blocking agents which pose a challenge to the anesthesiologist...
April 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29961566/the-2018-version-of-the-gene-table-of-monogenic-neuromuscular-disorders-nuclear-genome
#17
Gisèle Bonne, François Rivier, Dalil Hamroun
No abstract text is available yet for this article.
December 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29959180/genetics-of-neuromuscular-fetal-akinesia-in-the-genomics-era
#18
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft
Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions...
June 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29955895/high-dimensional-immunology-for-schizophrenia-research-a-short-perspective
#19
George K Lewis
There is evidence that many diseases are accompanied by immunological perturbations and even when the perturbations are not directly pathogenic, they can provide correlative signatures of pathology that can be useful diagnostically. For example, the neuromuscular disease, multiple sclerosis, has a pathophysiology that is immunologically mediated, evinced by the use of increasingly sophisticated immunosuppression therapy and by animal studies in which many of the symptoms can be reproduced by breaking immunological tolerance to myelin basic protein...
June 27, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29953326/immunotherapy-of-guillain-barr%C3%A3-syndrome
#20
Shuang Liu, Chaoling Dong, Eroboghene Ekamereno Ubogu
Guillain-Barré syndrome (GBS), the most common cause of acute neuromuscular weakness and paralysis worldwide, encompasses a group of acute immune-mediated disorders restricted to peripheral nerves and roots. Immune-mediated attack of peripheral nervous system myelin, axons or both is presumed to be triggered by molecular mimicry, with both cell- and humoral-dependent mechanisms implicated in disease pathogenesis. Good circumstantial evidence exists for a pathogenic role for molecular mimicry in GBS pathogenesis, especially with its axonal forms, providing insights that could guide future immunotherapy...
June 28, 2018: Human Vaccines & Immunotherapeutics
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