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neuromuscular disorder

Rozina Bhimani, Frank Medina, Lisa Carney-Anderson
Recognizing crucial distinctions between muscle tightness, spasticity, and clonus. ABSTRACT: Neuromuscular disorders are complex, difficult both to differentiate and to manage. Yet nurses, who encounter a symptomatically diverse neuromuscular patient population in various practice settings, are expected to be well versed in managing the variable associated symptoms of these disorders. Here the authors discuss how to assess such neuromuscular conditions as muscle tightness, spasticity, and clonus; the pathophysiology underlying each; and the available recommended treatments, an understanding of which is necessary for successful symptom management and clear provider-patient communication...
November 6, 2018: American Journal of Nursing
Christian Réveillère
No abstract text is available yet for this article.
November 2018: Médecine Sciences: M/S
Citlalli Netzahualcoyotzi, Ricardo Tapia
The tetanus toxin C-fragment is a non-toxic peptide that can be transported from peripheral axons into spinal motoneurons. In in vitro experiments it has been shown that this peptide activates signaling pathways associated with Trk receptors, leading to cellular survival. Because motoneuron degeneration is the main pathological hallmark in motoneuron diseases, and excitotoxicity is an important mechanism of neuronal death in this type of disorders, in this work we tested whether the tetanus toxin C-fragment is able to protect MN in the spinal cord in vivo...
November 8, 2018: Scientific Reports
Atwood K Cheung, Brian Hurley, Ryan Kerrigan, Lei Shu, Donovan N Chin, Yiping Shen, Gary O'Brien, Moo Je Sung, Ying Hou, Jake Axford, Emma Cody, Robert Sun, Aleem Fazal, Ronald C Tomlinson, Monish Jain, Lin Deng, Keith Hoffmaster, Cheng Song, Mailin Van Hoosear, Youngah Shin, Rebecca Servais, Christopher S Towler, Marc Hild, Daniel Curtis, William F Dietrich, Lawrence G Hamann, Karin Briner, Karen S Chen, Dione Kobayashi, Rajeev Sivasankaran, Natalie A Dales
Spinal muscular atrophy (SMA), a rare neuromuscular disorder, is the leading genetic cause of death in infants and toddlers. SMA is caused by the deletion or a loss of function mutation of the survival motor neuron 1 (SMN1) gene. In humans, a second closely related gene SMN2 exists, however it codes for a less stable SMN protein. In recent years, significant progress has been made toward disease modifying treatments for SMA by modulating SMN2 pre-mRNA splicing. Herein, we describe the discovery of LMI070 / branaplam, a small molecule that stabilizes the interaction between the spliceosome and SMN2 pre-mRNA...
November 8, 2018: Journal of Medicinal Chemistry
Mehmet A Erdogan, Yuksel Seckin, Muhsin M Harputluoglu, Melih Karincaoglu, Murat Aladag, Ali R Caliskan, Yilmaz Bilgic, Oguzhan Yildirim, Yasir F Cagin, Yahya Atayan, Ayse N Cengiz, Cihat Emul, Zeynep Esener, Mehmet F Erbay, Ibrahim Tekedereli
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c...
November 6, 2018: Clinical Dysmorphology
Dong-Mei Wu, Xin Wen, Xin-Rui Han, Shan Wang, Yong-Jian Wang, Min Shen, Shao-Hua Fan, Juan Zhuang, Zi-Feng Zhang, Qun Shan, Meng-Qiu Li, Bin Hu, Chun-Hui Sun, Jun Lu, Yuan-Lin Zheng
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder, affecting the quality of life of millions of people worldwide. The current study aims to determine the relationship between microRNA-143 (miR-143) and CXCL13, and whether it influences the pathogenesis of myasthenia gravis (MG). Thymus specimens were resected from patients with thymic hyperplasia combined MG, and then infused into normal mouse cavities to establish MG mice models. Immunohistochemistry, RT-qPCR, in situ hybridization detection, and Western blot analysis were employed to identify the expression of miR-143 and CXCL13 in MG and normal mice...
November 7, 2018: American Journal of Physiology. Cell Physiology
Thomas Baum, Cristian Lorenz, Christian Buerger, Friedemann Freitag, Michael Dieckmeyer, Holger Eggers, Claus Zimmer, Dimitrios C Karampinos, Jan S Kirschke
Proton-density fat fraction (PDFF) of the paraspinal muscles, derived from chemical shift encoding-based water-fat magnetic resonance imaging, has emerged as an important surrogate biomarker in individuals with intervertebral disc disease, osteoporosis, sarcopenia and neuromuscular disorders. However, quantification of paraspinal muscle PDFF is currently limited in clinical routine due to the required time-consuming manual segmentation procedure. The present study aimed to develop an automatic segmentation algorithm of the lumbar paraspinal muscles based on water-fat sequences and compare the performance of this algorithm to ground truth data based on manual segmentation...
November 7, 2018: European radiology experimental
Christopher M Navas, Nihal K Patel, Brian E Lacy
Gastroparesis is a chronic and debilitating neuromuscular disorder of the upper gastrointestinal tract. Symptoms of gastroparesis include nausea, vomiting, epigastric pain, early satiety, and weight loss. Treating gastroparesis can be difficult. Dietary changes may improve symptoms in patients with mild disease. A variety of medications can be used to treat symptoms of nausea and vomiting, although most have not been subjected to randomized controlled trials and only one is approved by the Food and Drug Administration (metoclopramide)...
January 2019: Gastrointestinal Endoscopy Clinics of North America
Yoshiki Murotani, Yutaka Kuroda, Koji Goto, Toshiyuki Kawai, Shuichi Matsuda
BACKGROUND: Dislocation following total hip arthroplasty is mainly caused by malposition. However, the coexistence of neuromuscular disorders is also considered a risk for dislocation due to excessive hip joint laxity. To minimize risk of dislocation, preoperative planning using combined anteversion has been widely used. The recommended combined anteversion angle (the total of cup and stem anteversion angles) is 50 ± 10°. CASE PRESENTATION: A 33-year-old Japanese woman underwent elective total hip arthroplasty due to osteonecrosis of the femoral head associated with corticosteroid pulse therapy for myasthenia gravis...
November 6, 2018: Journal of Medical Case Reports
Miguel Oliveira Santos, Michael Swash, Mamede de Carvalho
OBJECTIVES: To investigate if monopolar (MN) and concentric (CN) electrodes are equivalent for volitional contraction jitter estimation in orbicularis oculi (OO), and to study the effect of selecting a specific high-pass filter. METHODS: We studied neuromuscular jitter in OO on both sides in 100 consecutive patients with a clinical diagnosis of ocular myasthenia gravis (MG). We used either MN (50 patients) or CN (50 patients) electrodes in individual patients, according to a randomised protocol, with a 1kH high pass filter on one side and a 3kH filter on the other...
October 26, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Sandra Murphy, Margit Zweyer, Michael Henry, Paula Meleady, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
Background: Duchenne muscular dystrophy is a highly complex multi-system disease caused by primary abnormalities in the membrane cytoskeletal protein dystrophin. Besides progressive skeletal muscle degeneration, this neuromuscular disorder is also associated with pathophysiological perturbations in many other organs including the liver. To determine potential proteome-wide alterations in liver tissue, we have used a comparative and mass spectrometry-based approach to study the dystrophic mdx - 4cv mouse model of dystrophinopathy...
2018: Clinical Proteomics
Michael Camilleri, Victor Chedid, Alexander C Ford, Ken Haruma, Michael Horowitz, Karen L Jones, Phillip A Low, Seon-Young Park, Henry P Parkman, Vincenzo Stanghellini
Gastroparesis is a disorder characterized by delayed gastric emptying of solid food in the absence of a mechanical obstruction of the stomach, resulting in the cardinal symptoms of early satiety, postprandial fullness, nausea, vomiting, belching and bloating. Gastroparesis is now recognized as part of a broader spectrum of gastric neuromuscular dysfunction that includes impaired gastric accommodation. The overlap between upper gastrointestinal symptoms makes the distinction between gastroparesis and other disorders, such as functional dyspepsia, challenging...
November 1, 2018: Nature Reviews. Disease Primers
Evangelia Koutsioumpa, Demosthenes Makris, Athina Theochari, Dimitra Bagka, Stathis Stathakis, Efstratios Manoulakas, Markos Sgantzos, Epaminondas Zakynthinos
BACKGROUND: Critical illness polyneuropathy or myopathy is a severe disorder that may adversely affect patients in the intensive care unit, resulting in reduced mobilization, decline in muscle mass, and prolonged recovery periods. OBJECTIVE: To examine whether the application of trans-cutaneous electrical neuromuscular stimulation (TENMS) reduces the incidence or severity of myopathy related to critical illness in intensive care unit patients. METHODS: A total of 80 patients aged 18 years or older with an intensive care unit stay of 96 hours or more and receipt of mechanical ventilation for 96 hours or more were initially enrolled in a prospective, open-label randomized controlled trial in a university hospital...
November 2018: American Journal of Critical Care: An Official Publication, American Association of Critical-Care Nurses
Kara R Barber, Martin Hruska, Keegan M Bush, Jade A Martinez, Hong Fei, Irwin B Levitan, Matthew B Dalva, Yogesh P Wairkar
Functional synaptic networks are compromised in many neurodevelopmental and neurodegenerative diseases. While the mechanisms of axonal transport and localization of synaptic vesicles and mitochondria are relatively well studied, little is known about the mechanisms that regulate the localization of proteins that localize to active zones. Recent finding suggests that mechanisms involved in transporting proteins destined to active zones are distinct from those that transport synaptic vesicles or mitochondria...
October 31, 2018: Scientific Reports
Edson Silva-Filho, Alexandre H Okano, Edgard Morya, Jessica Albuquerque, Enio Cacho, Gozde Unal, Marom Bikson, Rodrigo Pegado
The Chikungunya (CHIK) virus is epidemic in Brazil, with 170,000 cases in the first half of 2016. More than 60% of patients present relapsing and remitting chronic arthralgia with debilitating pain lasting years. There are no specific therapeutic agents to treat and rehabilitee infected persons with CHIK. Persistent pain can lead to incapacitation, requiring long-term pharmacological treatment. Advances in non-pharmacological treatments are necessary to promote pain relief without side effects and to restore functionality...
October 30, 2018: Scientific Reports
Shreedarshanee Devi, Rashmi Yadav, Pratibha Chanana, Ranjana Arya
Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle degeneration and loss of muscle motor movement with age. Individuals with mutations in presenilin or amyloid precursor protein (APP) gene develop AD while mutations in GNE (UDP N -acetylglucosamine 2 epimerase/ N -acetyl Mannosamine kinase), key sialic acid biosynthesis enzyme, cause GNEM...
2018: Frontiers in Neuroscience
Jana Buzkova, Joni Nikkanen, Sofia Ahola, Anna H Hakonen, Ksenia Sevastianova, Topi Hovinen, Hannele Yki-Järvinen, Kirsi H Pietiläinen, Tuula Lönnqvist, Vidya Velagapudi, Christopher J Carroll, Anu Suomalainen
Mitochondrial disorders (MDs) are inherited multi-organ diseases with variable phenotypes. Inclusion body myositis (IBM), a sporadic inflammatory muscle disease, also shows mitochondrial dysfunction. We investigated whether primary and secondary MDs modify metabolism to reveal pathogenic pathways and biomarkers. We investigated metabolomes of 25 mitochondrial myopathy or ataxias patients, 16 unaffected carriers, six IBM and 15 non-mitochondrial neuromuscular disease (NMD) patients and 30 matched controls. MD and IBM metabolomes clustered separately from controls and NMDs...
October 29, 2018: EMBO Molecular Medicine
Kostas Georgiadis, Nikos Laskaris, Spiros Nikolopoulos, Ioannis Kompatsiaris
BACKGROUND: Phase synchrony has extensively been studied for understanding neural coordination in health and disease. There are a few studies concerning the implications in the context of BCIs, but its potential for establishing a communication channel in patients suffering from neuromuscular disorders remains totally unexplored. We investigate, here, this possibility by estimating the time-resolved phase connectivity patterns induced during a motor imagery (MI) task and adopting a supervised learning scheme to recover the subject's intention from the streaming data...
October 29, 2018: Journal of Neuroengineering and Rehabilitation
Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D'Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan De Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro
Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a diagnosis. In these cases, different hypotheses are usually postulated, including variants in novel genes or elusive mutations. Although the impact of copy number variants (CNVs) in neuromuscular disorders has been largely ignored to date, missed CNVs are predicted to have a major role in disease causation as some very large genes, such as the dystrophin gene, have prone-to-deletion regions...
October 26, 2018: Genes
Tom E J Theunissen, Minh Nguyen, Rick Kamps, Alexandra T Hendrickx, Suzanne C E H Sallevelt, Ralph W H Gottschalk, Chantal M Calis, Alphons P M Stassen, Bart de Koning, Elvira N M Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F M de Coo, Debby M E I Hellebrekers, Hubert J M Smeets
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phenotype...
2018: Frontiers in Genetics
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