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https://www.readbyqxmd.com/read/29674667/a-mixed-periodic-paralysis-myotonia-mutant-p1158s-imparts-ph-sensitivity-in-skeletal-muscle-voltage-gated-sodium-channels
#1
Mohammad-Reza Ghovanloo, Mena Abdelsayed, Colin H Peters, Peter C Ruben
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by episodic attacks of weakness. One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels. Interestingly, the P1158S missense mutant, located in the third domain S4-S5 linker of the "skeletal muscle", Nav1...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29652986/-clinical-and-genetic-analysis-of-three-pedigrees-affected-with-myotonic-dystrophy
#2
Hongyan Huang, Xinglong Yang, Yanming Xu
OBJECTIVE: To carry out clinical and genetic analysis for three pedigrees affected with myotonic dystrophy type 1 (DM1). METHODS: Three probands with clinically diagnosed DM and their familial members were recruited. Clinical data of the patients including clinical manifestations, electrocardiogram (ECG), and electromyogram (EEG) was collected. RESULTS: The clinical symptoms of all probands have progressed slowly and included myotonia, muscle weakness and muscle atrophy as the main manifestations...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29627324/from-excitation-to-intracellular-ca-2-movements-in-skeletal-muscle-basic-aspects-and-related-clinical-disorders
#3
REVIEW
Bruno Allard
In skeletal muscle fiber, excitation-contraction coupling corresponds to the sequence of events occurring from action potential firing to initiation of contraction by an increase in cytosolic Ca2+ . These events are elicited in response to excitation of the motor neuron which induces trains of action potentials in the muscle cell that spread along the sarcolemma and in depth along the T-tubule membrane. Depolarization of the T-tubule membrane induces a conformational change in a protein complex, called the dihydropyridine receptor, which opens a calcium channel anchored in the membrane of the sarcoplasmic reticulum, called the ryanodine receptor, in charge of release of Ca2+ ions that activate contractile proteins...
March 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29606556/prevalence-and-mutation-spectrum-of-skeletal-muscle-channelopathies-in-the-netherlands
#4
B C Stunnenberg, J Raaphorst, J C W Deenen, T P Links, A A Wilde, D J Verbove, E J Kamsteeg, A van den Wijngaard, C G Faber, G J van der Wilt, B G M van Engelen, G Drost, H B Ginjaar
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100...
March 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#5
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29596556/uveal-melanoma-associated-with-myotonic-dystrophy-a-report-of-6-cases
#6
Lauren A Dalvin, Carol L Shields, Jose S Pulido, Kareem Sioufi, Victoria Cohen, Jerry A Shields
Importance: Patients with myotonic dystrophy (MD) have an increased risk of malignancy including uveal melanoma. This case series further explores the association between these 2 diseases. Objective: To describe a cohort of patients with uveal melanoma associated with MD, including a case of iris melanoma, and MD-associated uveal melanoma in relatives. Design, Setting, and Participants: Retrospective case series at 3 tertiary referral centers (Wills Eye Hospital, Philadelphia, Pennsylvania; Mayo Clinic, Rochester, Minnesota; and Moorsfields Eye Hospital, London, England), between January 1, 2000, and August 31, 2017...
March 29, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29589531/a-focus-on-the-synthesis-and-pharmacokinetics-of-tocainide-and-its-analogues
#7
Alessia Carocci, Filomena Corbo, Giovanni Lentini, Maria Maddalena Cavalluzzi, Carlo Franchini, Alessia Catalano
BACKGROUND Tocainide is an antiarrhythmic agent belonging to class IB that was primarily used for suppression of symptomatic ventricular arrhythmias. Tocainide was also reported to relieve pain such as tic douloureux, trigemina neuralgia in humans and tinnitus. Significant antinociception, as assayed on the hot-plate test, was observed after intraperitoneal injection of tocainide, too. By the mid-1980s tocainide was emerging as a more consistently effective treatment for myotonic disorders. Numerous reports of serious adverse reactions led to the use of tocainide being discontinued, even though research on tocainide and its analogues, endowed with a better pharmacological profile, is still in progress for their potential usefulness in the treatment of myotonias...
March 26, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29500929/mapping-ligand-binding-pockets-in-clc-1-channels-through-an-integrated-in-silico-and-experimental-approach-using-anthracene-9-carboxylic-acid-and-niflumic-acid
#8
C Altamura, G F Mangiatordi, O Nicolotti, D Sahbani, A Farinato, F Leonetti, M R Carratù, D Conte, J-F Desaphy, P Imbrici
BACKGROUND AND PURPOSE: Despite the fact that chloride channels are involved in several physiological processes and acquired diseases, the availability of compounds selectively targeting CLC proteins is rather limited. ClC-1 channels are responsible for sarcolemma repolarization after an action potential in skeletal muscle fibers and have been associated with myotonia congenita and myotonic dystrophy as well as with other muscular physiopathological conditions. To date only a few ClC-1 blockers have been discovered, such as anthracene-9-carboxylic acid (9-AC) and niflumic acid (NFA), whereas no useful activator exists...
March 3, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29480456/becker-s-myotonia-novel-mutations-and-clinical-variability-in-patients-born-to-consanguineous-parents
#9
Ibrahim Sahin, Haktan B Erdem, Huseyin Tan, Abdulgani Tatar
Myotonia congenita is an inherited muscle disease present from childhood that is characterized by impaired muscle relaxation after contraction resulting in muscle stiffness; moreover, skeletal striated muscle groups may be involved. Myotonia congenita occurs due to chloride (Cl) channel mutations that reduce the stabilizing Cl conductance, and it is caused by mutations in the CLCN1 gene. This paper describes four patients from two different healthy consanguineous Turkish families with muscle stiffness and easy fatigability...
February 26, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29479387/use-of-sugammadex-in-a-patient-with-myotonic-dystrophy
#10
Samira Ahmed, Aymen Naguib, Dmitry Tumin, Joseph D Tobias
One of the challenges during the perioperative care of patients with myotonic dystrophy is the reversal of neuromuscular blocking agents. Agents that inhibit acetylcholinesterase, such as neostigmine, may precipitate myotonia, and are therefore relatively contraindicated. Sugammadex is a novel pharmacologic agent, which encapsulates rocuronium or vecuronium, thereby reversing their effect. We report anecdotal experience with the use of sugammadex to reverse neuromuscular blockade in a patient with myotonic dystrophy...
February 2018: Cardiology Research
https://www.readbyqxmd.com/read/29451154/novel-mutations-in-scn4a-gene-cause-myotonia-congenita-with-scoliosis
#11
Yang-Qi Xu, Xiao-Li Liu, Xiao-Jun Huang, Wo-Tu Tian, Hui-Dong Tang, Li Cao
No abstract text is available yet for this article.
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29424939/clcn1-myotonia-congenita-mutation-with-a-variable-pattern-of-inheritance-suggests-a-novel-mechanism-of-dominant-myotonia
#12
Héctor Gaitán-Peñas, Mercedes Armand-Ugón, Alfons Macaya, Raúl Estévez
INTRODUCTION: Mutations in CLCN1 cause recessive or dominant forms of myotonia congenita (MC). Some mutations have been found to exhibit both patterns of inheritance but the mechanism explaining this behavior is unknown. METHODS: A known recessive missense mutation, A493E, was identified in a family with dominant MC. The mutant p.A493E alone or in co-expression with wild-type (WT) ClC-1 was expressed in Xenopus oocytes. Currents were measured and biochemical assays were performed...
February 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29416471/a-successful-anesthetic-approach-in-a-patient-with-schwartz-jampel-syndrome
#13
Fernando Calado de Oliveira Camacho, Tânia Marina Lopes Amaral, Joana Irene de Barros Mourão
Schwartz-Jampel syndrome (SJS) is a rare genetic condition that is characterized by several musculoskeletal abnormalities, such as myotonia, joint contractures, and facial dysmorphisms. Patients with this syndrome can present an anesthetic challenge, due to an increased risk of developing malignant hyperthermia (MH) and the possibility of encountering a difficult airway. Several precautions must be taken when general anesthesia is required, such as the avoidance of potential triggers for MH, continuous core temperature, and end-tidal CO2 monitoring, assuring that dantrolene is readily available...
January 2018: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29405036/structural-modeling-of-altered-clcn1-conformation-following-a-novel-mutation-in-a-patient-affected-by-autosomal-dominant-myotonia-congenita-thomsen-disease
#14
Rosangela Ferese, Veronica Albano, Mattia Falconi, Federico Iacovelli, Rosa Campopiano, Simona Scala, Anna Maria Griguoli, Anderson Gaglione, Emiliano Giardina, Stefania Zampatti, Marianna Storto, Francesco Fornai, Carmelo D'Alessio, Giuseppe Novelli, Stefano Gambardella
No abstract text is available yet for this article.
December 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29391559/substitutions-of-the-s4div-r2-residue-r1451-in-nav1-4-lead-to-complex-forms-of-paramyotonia-congenita-and-periodic-paralyses
#15
Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine
Mutations in NaV1.4, the skeletal muscle voltage-gated Na+ channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated individuals. The first individual was diagnosed with non-dystrophic myotonia, whereas the second suffered from an unusual phenotype combining hyperkalemic and hypokalemic episodes of periodic paralysis (PP)...
February 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29381887/myotonia-congenita-can-be-mistaken-as-paroxysmal-kinesigenic-dyskinesia
#16
Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon
No abstract text is available yet for this article.
January 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29356569/olanzapine-versus-risperidone-in-children-and-adolescents-with-psychosis-a-meta-analysis-of-randomized-controlled-trials
#17
Lei Xia, Wen-Zheng Li, Huan-Zhong Liu, Rui Hao, Xiang-Yang Zhang
OBJECTIVE: To compare the efficacy and safety of olanzapine and risperidone in children and adolescents (aged ≤18 years) with psychosis by conducting a meta-analysis of randomized controlled trials (RCTs). METHODS: Several English and Chinese databases were searched for studies published before February 8th, 2017. Two independent investigators screened the studies according to prespecified criteria and extracted the data. Review Manager 5.3 was used to conduct the data synthesis...
January 22, 2018: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29296622/relationships-between-grip-strength-myotonia-and-ctg-expansion-in-myotonic-dystrophy-type-1
#18
Jean-Yves Hogrel, Gwenn Ollivier, Isabelle Ledoux, Luc J Hébert, Bruno Eymard, Jack Puymirat, Guillaume Bassez
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All patients underwent clinical and functional assessments using a standardized test for grip strength and myotonia assessment. Myotonia was assessed using a fully automatic software based on mathematical modeling of relaxation force curve. CTG repeat length was statistically correlated with both myotonia and grip strength, which are two major primary neuromuscular symptoms of DM1 patients...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29246312/crispr-cas9-mediated-deletion-of-ctg-expansions-recovers-normal-phenotype-in-myogenic-cells-derived-from-myotonic-dystrophy-1-patients
#19
Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29184538/circulating-irisin-is-reduced-in-male-patients-with-type-1-and-type-2-myotonic-dystrophies
#20
Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta
Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters...
2017: Frontiers in Endocrinology
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