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Neuromuscular diseases

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https://www.readbyqxmd.com/read/29334041/autoantibodies-to-low-density-lipoprotein-receptor-related-protein-4-in-double-seronegative-myasthenia-gravis-a-systematic-review
#1
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/29332117/pseudocholinesterase-levels-in-patients-under-electroconvulsive-therapy
#2
Gamze Küçükosman, Özcan Pişkin, Volkan Hancı, Rahşan D Okyay, Hilal Ayoğlu, Bülent S Yurtlu, Mehmet Akın, Işıl Ö Turan
In this study, we aimed to retrospectively assess the correlation of pseudocholinesterase (PChE) levels with age, gender, body weight and diagnosed psychiatric diseases in electroconvulsive therapy (ECT) cases. Methods: This retrospective study was conducted at Bülent Ecevit University Hospital, Zonguldak, Turkey, between 2007 and 2011. In the study, 193 ECT case files were retrospectively scanned to evaluate PChE values before ECT and other file information.  Results: There was no difference between gender in terms of PChE levels...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29327642/effects-of-arm-cycling-exercise-in-spinal-muscular-atrophy-type-ii-patients-a-pilot-study
#3
Gamze Bora, Şulenur Subaşı-Yıldız, Ayşe Yeşbek-Kaymaz, Numan Bulut, İpek Alemdaroğlu, Öznur Tunca-Yılmaz, Haluk Topaloğlu, Aynur Ayşe Karaduman, Hayat Erdem-Yurter
Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and binding protein 3 (IGFBP3) levels...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29326369/successful-treatment-of-postural-orthostatic-tachycardia-and-mast-cell-activation-syndromes-using-naltrexone-immunoglobulin-and-antibiotic-treatment
#4
Leonard B Weinstock, Jill B Brook, Trisha L Myers, Brent Goodman
A patient with severe postural orthostatic tachycardia syndrome (POTS) and mast cell activation syndrome (MCAS) received immunotherapy with low-dose naltrexone (LDN) and intravenous immunoglobulin (IVIg) and antibiotic therapy for small intestinal bacterial overgrowth (SIBO). A dramatic and sustained response was documented. The utility of IVIg in autoimmune neuromuscular diseases has been published, but clinical experience with POTS is relatively unknown and has not been reported in MCAS. As a short-acting mu-opioid antagonist, LDN paradoxically increases endorphins which then bind to regulatory T cells which regulate T-lymphocyte and B-lymphocyte production and this reduces cytokine and antibody production...
January 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29326174/muscle-nicotinic-acetylcholine-receptors-may-mediate-trans-synaptic-signaling-at-the-mouse-neuromuscular-junction
#5
Xueyong Wang, J Michael McIntosh, Mark M Rich
Block of neurotransmitter receptors at the neuromuscular junction (NMJ) has been shown to trigger upregulation of the number of synaptic vesicles released (quantal content, QC), a response termed homeostatic synaptic plasticity. The mechanism underlying this plasticity is not known. Here, we used selective toxins to demonstrate that block of α1-containing nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction of male and female mice, triggers the upregulation of QC. Reduction of current flow through nAChRs, induced by drugs with antagonist activity, demonstrated that reduction in synaptic current per se does not trigger upregulation of QC...
January 11, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#6
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29324904/prohibitin-plays-a-critical-role-in-enterovirus-71-neuropathogenesis
#7
Issac Horng Khit Too, Isabelle Bonne, Eng Lee Tan, Justin Jang Hann Chu, Sylvie Alonso
A close relative of poliovirus, enterovirus 71 (EV71) is regarded as an important neurotropic virus of serious public health concern. EV71 causes Hand, Foot and Mouth Disease and has been associated with neurological complications in young children. Our limited understanding of the mechanisms involved in its neuropathogenesis has hampered the development of effective therapeutic options. Here, using a two-dimensional proteomics approach combined with mass spectrometry, we have identified a unique panel of host proteins that were differentially and dynamically modulated during EV71 infection of motor-neuron NSC-34 cells, which are found at the neuromuscular junctions where EV71 is believed to enter the central nervous system...
January 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29323413/extracorporeal-membrane-oxygenation-for-refractory-severe-respiratory-failure-in-acute-interstitial-pneumonia
#8
Gabriela Gonçalves-Venade, Nuno Lacerda-Príncipe, Roberto Roncon-Albuquerque, José Artur Paiva
Acute interstitial pneumonia (AIP) is a rare idiopathic interstitial lung disease with rapid progressive respiratory failure and high mortality. In the present report, three cases of AIP complicated by refractory respiratory failure supported with extracorporeal membrane oxygenation (ECMO) are presented. One male and two female patients (ages 27-59) were included. Venovenous ECMO support was provided using miniaturized systems, with two-site femoro-jugular circuit configuration. Despite lung protective ventilation, prone position and neuromuscular blockade, refractory respiratory failure of unknown etiology supervened (ratio of arterial oxygen partial pressure to fractional inspired oxygen 46-130) and ECMO was initiated after 3-7 days of mechanical ventilation...
January 11, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29317688/precontractile-optical-response-during-excitation-contraction-in-human-muscle-revealed-by-non-invasive-high-speed-spatiotemporal-nir-measurement
#9
Markus Lindkvist, Gabriel Granåsen, Christer Grönlund
During muscle contraction the excitation-contraction process mediates the neural input and mechanical output. Proper muscle function and body locomotion depends on the status of the elements in the same process. However, non-invasive and in-vivo methods to study this are not available. Here we show the existence of an optical response occurring during the excitation-contraction process in human biceps brachii muscle. We developed a non-invasive instrument from a photodiode array and light emitting diodes to detect spatially propagating (~5 m/s) and precontractile (~6 ms onset) optical signals closely related to the action potential during electrostimulation...
January 9, 2018: Scientific Reports
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/29309648/an-engineered-rna-binding-protein-with-improved-splicing-regulation
#12
Melissa A Hale, Jared I Richardson, Ryan C Day, Ona L McConnell, Juan Arboleda, Eric T Wang, J Andrew Berglund
The muscleblind-like (MBNL) family of proteins are key developmental regulators of alternative splicing. Sequestration of MBNL proteins by expanded CUG/CCUG repeat RNA transcripts is a major pathogenic mechanism in the neuromuscular disorder myotonic dystrophy (DM). MBNL1 contains four zinc finger (ZF) motifs that form two tandem RNA binding domains (ZF1-2 and ZF3-4) which each bind YGCY RNA motifs. In an effort to determine the differences in function between these domains, we designed and characterized synthetic MBNL proteins with duplicate ZF1-2 or ZF3-4 domains, referred to as MBNL-AA and MBNL-BB, respectively...
January 4, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#13
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/29306245/turkish-version-of-the-motor-function-measure-scale-mfm-32-forneuromuscular-diseases-a-cross-cultural-adaptation-reliability-and-validity-study
#14
Habibe Serap İnal, Ela Tarakçı, Devrim Tarakçı, Gülcan Aksoy, Sezan Mergen Kılıç, Hakan Beşer, Çiğdem Beşer, Arzu Razak Özdinçler, Hacer Durmuş Tekçe, Fatma Yeşim Parman, Feza Deymeer, Zehra Piraye Oflazer
Background/aim: The Motor Function Measure (MFM-32) is a classification system for ambulant and nonambulant patients with neuromuscular diseases (NMDs). We aimed to translate it into Turkish, culturally adapt it, and test its reliability and validity for Turkish patients with NMDs.Materials and methods: The translation of the 32 items assessing three functional areas: standing position and transfers (D1: 13), axial/proximal (D2: 12), and distal (D3: 7) motor functions was performed according to the established guidelines for cross-cultural adaptation...
December 19, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29305005/the-composition-development-and-regeneration-of-neuromuscular-junctions
#15
Wenxuan Liu, Joe V Chakkalakal
The neuromuscular junction (NMJ) is the specialized site that connects the terminal of a motor neuron axon to skeletal muscle. As a synapse NMJ integrity is essential for transducing motor neuron signals that initiate skeletal muscle contraction. Many diseases and skeletal muscle aging are linked to impaired NMJ function and the associated muscle wasting. In this chapter we review the components of an NMJ and, the processes of NMJ development, maturation, and regeneration. Also, we briefly discuss the cellular and molecular mechanisms of NMJ decline in the context of disease and aging...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29304999/-known-unknowns-current-questions-in-muscle-satellite-cell-biology
#16
Ddw Cornelison
Our understanding of satellite cells, now known to be the obligate stem cells of skeletal muscle, has increased dramatically in recent years due to the introduction of new molecular, genetic, and technical resources. In addition to their role in acute repair of damaged muscle, satellite cells are of interest in the fields of aging, exercise, neuromuscular disease, and stem cell therapy, and all of these applications have driven a dramatic increase in our understanding of the activity and potential of satellite cells...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29302566/bridging-the-gap-between-observation-and-brace-treatment-for-adolescent-idiopathic-scoliosis
#17
Eric Chun Pu Chu, Kevin Hsu Kai Huang
Adolescent idiopathic scoliosis (AIS) remains the most common and potentially severe form of scoliosis during the rapid growth period. It is generally accepted that AIS is a multifactorial disease controlled by genetic, hormonal, neuromuscular, and environmental factors. Herein, we describe a case of 12-year-old scoliotic girl with a double curve of initially 26° thoracic and 23° lumbar, seeking chiropractic care. The therapy was provided three times/twice a week for 6 months. Adjustments of the spine through chiropractic, both soreness and mobility, were shown to improve...
April 2017: Journal of Family Medicine and Primary Care
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
#18
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/29298901/five-year-follow-up-and-outcomes-of-noninvasive-ventilation-in-subjects-with-neuromuscular-diseases
#19
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29289885/structural-and-biological-characterization-of-new-hybrid-drugs-joining-an-hdac-inhibitor-to-different-no-donors
#20
Sandra Atlante, Konstantin Chegaev, Chiara Cencioni, Stefano Guglielmo, Elisabetta Marini, Emily Borretto, Carlo Gaetano, Roberta Fruttero, Francesco Spallotta, Loretta Lazzarato
HDAC inhibitors and NO donors have already revealed independently their broad therapeutic potential in pathologic contexts. Here we further investigated the power of their combination in a single hybrid molecule. Nitrooxy groups or substituted furoxan derivatives were joined to the α-position of the pyridine ring of the selective class I HDAC inhibitor MS-275. Biochemical analysis showed that the association with the dinitrooxy compound 31 or the furoxan derivative 16 gives hybrid compounds the ability to preserve the single moiety activities...
December 15, 2017: European Journal of Medicinal Chemistry
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