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myasthenic syndrome

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https://www.readbyqxmd.com/read/27907966/getting-rid-of-weakness-in-the-icu-an-updated-approach-to-the-acute-management-of-myasthenia-gravis-and-guillain-barr%C3%A3-syndrome
#1
Alexis A Lizarraga, Karlo J Lizarraga, Michael Benatar
After prompt diagnosis, severe myasthenia gravis and Guillain-Barré syndrome (GBS) usually require management in the intensive care unit. In the myasthenic patient, recognition of precipitating factors is paramount, and frequent monitoring of bulbar, upper airway, and/or respiratory muscle strength is needed to identify impending myasthenic crisis. Noninvasive ventilation can be attempted prior to intubation and mechanical ventilation in the setting of respiratory failure. Cholinesterase inhibitors should be discontinued, but resumed prior to extubation, and steroid dosage could be increased once the airway is secured...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27874200/two-patients-with-gmppb-mutation-the-overlapping-phenotypes-of-limb-girdle-myasthenic-syndrome-and-lgmd2t-dystroglycanopathy
#2
Federica Montagnese, Elisabeth Klupp, Dimitrios C Karampinos, Saskia Biskup, Dieter Gläser, Jan S Kirschke, Benedikt Schoser
INTRODUCTION: Mutations in the GDP-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies (CMDs), limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described. METHODS: Two patients presented with a myasthenic syndrome (patient 1, 74-year-old) and rhabdomyolysis (patient 2, 23-year-old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI); next generation sequencing facilitated diagnosis...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27830186/copy-number-analysis-reveals-a-novel-multiexon-deletion-of-the-colq-gene-in-congenital-myasthenia
#3
Wei Wang, Yanhong Wu, Chen Wang, Jinsong Jiao, Christopher J Klein
Congenital myasthenic syndrome (CMS) is genetically and clinically heterogeneous.(1) Despite a considerable number of causal genes discovered, many patients are left without a specific diagnosis after genetic testing. The presumption is that novel genes yet to be discovered will account for the majority of such patients. However, it is also possible that we are neglecting a type of genetic variation: copy number changes (>50 bp) as causal for some of these patients. Next-generation sequencing (NGS) can simultaneously screen all known causal genes(2) and is increasingly being validated to have a potential to identify copy number changes...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27816328/tubular-aggregates-in-autoimmune-lambert-eaton-myasthenic-syndrome
#4
Isabell Cordts, Fabian Funk, Jörg B Schulz, Joachim Weis, Kristl G Claeys
Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert-Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement on 3 Hz stimulation, and slightly elevated creatine kinase. Muscle biopsy revealed tubular aggregates in type II fibers. Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal...
September 20, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27798141/fatigue-in-rapsyn-deficient-zebrafish-reflects-defective-transmitter-release
#5
Hua Wen, Jeffrey Michael Hubbard, Wei-Chun Wang, Paul Brehm
: Rapsyn-deficient myasthenic syndrome is characterized by a weakness in voluntary muscle contraction, a direct consequence of greatly reduced synaptic responses that result from poorly clustered acetylcholine receptors. As with other myasthenic syndromes, the general muscle weakness is also accompanied by use-dependent fatigue. Here, we used paired motor neuron target muscle patch-clamp recordings from a rapsyn-deficient mutant line of zebrafish to explore for the first time the mechanisms causal to fatigue...
October 19, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27779167/a-missense-mutation-in-epsilon-subunit-of-acetylcholine-receptor-causing-autosomal-dominant-slow-channel-congenital-myasthenic-syndrome-in-a-chinese-family
#6
Jia-Ze Tan, Yuan Man, Fei Xiao
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS). METHODS: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27776019/two-cases-of-clinical-myasthenia-gravis-associated-with-pembrolizumab-use-in-responding-melanoma-patients
#7
Bella H V Nguyen, James Kuo, Anadian Budiman, Hayden Christie, Sayed Ali
Immune checkpoint inhibitors have changed the landscape of the treatment of multiple solid malignancies, and have been used increasingly in the recent years. Although usually well tolerated, given the relative inexperience of using immune checkpoint inhibitors, we are still learning of new side effects from the treatment. We report on two cases of ocular myasthenia gravis that occurred after treatment with pembrolizumab, an antiprogrammed-death (anti-PD1) monoclonal antibody for advanced melanoma in responding patients...
October 21, 2016: Melanoma Research
https://www.readbyqxmd.com/read/27748205/nonlethal-chrna1-related-congenital-myasthenic-syndrome-with-a-homozygous-null-mutation
#8
Osorio Abath Neto, Carlos Otto Heise, Cristiane de Araújo Martins Moreno, Eduardo de Paula Estephan, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, Jocelyn Laporte, Edmar Zanoteli
No abstract text is available yet for this article.
October 17, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27717316/a-rare-c-183_187dupctcac-mutation-of-the-acetylcholine-receptor-chrne-gene-in-a-south-asian-female-with-congenital-myasthenic-syndrome-a-case-report
#9
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27706425/clinical-and-genetic-basis-of-congenital-myasthenic-syndromes
#10
Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians...
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27706415/congenital-myasthenic-syndromes-and-myasthenia-gravis-are-challenging-diagnoses-in-neurological-practice
#11
Anamarli Nucci
No abstract text is available yet for this article.
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27704495/neuromuscular-diseases
#12
Brett M Morrison
Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic inflammatory demyelinating polyradiculoneuropathy), neuromuscular junction (i.e., myasthenia gravis or Lambert-Eaton myasthenic syndrome), muscle (i.e., inflammatory myopathy or muscular dystrophy), or any combination of these sites...
October 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27666913/a-diagnosis-made-by-facilitation
#13
Uma Sundar, Sanjay Gulhane, D Asole
Lambert Eaton myasthenic syndrome is a presynaptic neuromuscular junction disorder, which has unique features on electrodiagnostic testing. Here we describe a middle aged lady with symmetric, progressive, areflexic weakness in lower limbs, who had the typical electrodiagnostic findings of diffuse attenuation of motor amplitudes, and increase in these amplitudes after brief exercise of the muscle sampled.
December 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27634344/phenotypic-heterogeneity-in-two-large-roma-families-with-a-congenital-myasthenic-syndrome-due-to-chrne-1267delg-mutation-a-long-term-follow-up
#14
D Natera-de Benito, J Domínguez-Carral, N Muelas, A Nascimento, C Ortez, T Jaijo, R Arteaga, J Colomer, J J Vilchez
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation...
August 15, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27614294/the-role-of-laminins-in-the-organization-and-function-of-neuromuscular-junctions
#15
Robert S Rogers, Hiroshi Nishimune
The synapse between motor neurons and skeletal muscle is known as the neuromuscular junction (NMJ). Proper alignment of presynaptic and post-synaptic structures of motor neurons and muscle fibers, respectively, is essential for efficient motor control of skeletal muscles. The synaptic cleft between these two cells is filled with basal lamina. Laminins are heterotrimer extracellular matrix molecules that are key members of the basal lamina. Laminin α4, α5, and β2 chains specifically localize to NMJs, and these laminin isoforms play a critical role in maintenance of NMJs and organization of synaptic vesicle release sites known as active zones...
September 7, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/27600705/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders
#16
Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino
BACKGROUND: Inherited skeletal muscle diseases are genetically heterogeneous diseases caused by mutations in more than 150 genes. This has made it challenging to establish a high-throughput screening method for identifying causative gene mutations in clinical practice. AIM: In the present study, we developed a useful method for screening gene mutations associated with the pathogenesis of skeletal muscle diseases. METHODS: We established four target gene panels, each covering all exonic and flanking regions of genes involved in the pathogenesis of the following muscle diseases: (1) muscular dystrophy (MD), (2) congenital myopathy/congenital myasthenic syndrome, (3) metabolic myopathy and (4) myopathy with protein aggregations/rimmed vacuoles...
September 6, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27590285/variants-in-slc18a3-vesicular-acetylcholine-transporter-cause-congenital-myasthenic-syndrome
#17
Gina L O'Grady, Corien Verschuuren, Michaela Yuen, Richard Webster, Manoj Menezes, Johanna M Fock, Natalie Pride, Heather A Best, Tatiana Benavides Damm, Christian Turner, Monkol Lek, Andrew G Engel, Kathryn N North, Nigel F Clarke, Daniel G MacArthur, Erik-Jan Kamsteeg, Sandra T Cooper
OBJECTIVE: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. METHODS: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. RESULTS: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1...
October 4, 2016: Neurology
https://www.readbyqxmd.com/read/27588369/limb-girdle-congenital-myasthenic-syndrome-in-a-chinese-family-with-novel-mutations-in-musk-gene-and-literature-review
#18
Xinghua Luan, Wotu Tian, Li Cao
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient with two novel missense mutations in muscle specific receptor tyrosine kinase (MUSK) gene and review 15 MUSK-related CMS patients from 8 countries. METHODS: The patient was a 30-year-old man with chronic progressively proximal limb weakness for 22 years and diagnosed as muscular dystrophy before. Serum creatine kinase (CK) was normal. Repetitive nerve stimulation (RNS) test showed decrements at low rate stimulation...
November 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#19
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27519468/new-era-in-genetics-of-early-onset-muscle-disease-breakthroughs-and-challenges
#20
Gianina Ravenscroft, Mark R Davis, Phillipa Lamont, Alistair Forrest, Nigel G Laing
Early-onset muscle disease includes three major entities that present generally at or before birth: congenital myopathies, congenital muscular dystrophies and congenital myasthenic syndromes. Almost exclusively there is weakness and hypotonia, although cases manifesting hypertonia are increasingly being recognised. These diseases display a wide phenotypic and genetic heterogeneity, with the uptake of next generation sequencing resulting in an unparalleled extension of the phenotype-genotype correlations and "diagnosis by sequencing" due to unbiased sequencing...
August 9, 2016: Seminars in Cell & Developmental Biology
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