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https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#1
REVIEW
M Bestue-Cardiel, D Natera-de Benito
Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation...
August 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28724748/depressed-synaptic-transmission-and-reduced-vesicle-release-sites-in-huntington-s-disease-neuromuscular-junctions
#2
Ahmad Khedraki, Eric J Reed, Shannon H Romer, Qingbo Wang, William Romine, Mark M Rich, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) is a progressive and fatal degenerative disorder that results in debilitating cognitive and motor dysfunction. Most HD studies have focused on degeneration of the central nervous system. We previously discovered that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and potassium conductances. The progressive and early onset of these defects suggest a primary myopathy in HD. In this study, we examined the relationship between neuromuscular transmission and skeletal muscle hyperexcitability...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721951/recording-characteristics-of-electrical-impedance-myography-needle-electrodes
#3
Hyeuknam Kwon, Seward B Rutkove, Benjamin Sanchez
OBJECTIVE: The neurology and physiatry community need improved tools for the evaluation of skeletal muscle condition. Here, we evaluate needle electrical impedance myography (EIM), a new minimally invasive approach to determine muscle status that could ultimately become a bedside tool for the assessment of neuromuscular disorders. APPROACH: We design and study the recording characteristics of tetrapolar EIM needle electrodes combining theory and finite element model simulations...
July 19, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28721575/gastroparesis-medical-and-therapeutic-advances
#4
REVIEW
Christopher M Navas, Nihal K Patel, Brian E Lacy
Gastroparesis is a chronic, bothersome, and often disabling neuromuscular disorder of the upper gastrointestinal tract. The most frequently reported symptoms of gastroparesis include nausea, vomiting, epigastric pain, early satiety, and unintentional weight loss. Etiologies of gastroparesis include diabetes, connective tissue disorders, prior infection, mesenteric ischemia, and post-surgical complications. The largest category of gastroparesis patients is comprised of those in whom no definitive cause can be identified (idiopathic gastroparesis)...
July 18, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28718627/structural-basis-for-interaction-of-the-tandem-zinc-finger-domains-of-human-muscleblind-with-cognate-rna-from-human-cardiac-troponin-t
#5
Sangho Park, Priti Deka Phukan, Markus Zeeb, Maria A Martinez-Yamout, Helen Jane Dyson, Peter E Wright
The human muscleblind-like proteins (MBNL) regulate tissue-specific splicing by targeting cardiac troponin T and other pre-mRNAs; aberrant targeting of CUG and CCUG repeat expansions frequently accompanies the neuromuscular disease myotonic dystrophy. We show, using biolayer interferometry (Octet), and NMR spectroscopy, that the zinc finger domains of MBNL isoform 1 (MBNL1) are necessary and sufficient for binding CGCU sequences within the pre-mRNA of human cardiac troponin T (hcTnT). Protein constructs containing zinc fingers 1 and 2 (zf12) and zinc fingers 3 and 4 (zf34) of MBNL1 each fold into a compact globular tandem zinc finger structure that participates in RNA binding...
July 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28715270/reliability-and-validity-of-the-turkish-version-of-abilhand-kids-questionnaire-in-a-group-of-patients-with-neuromuscular-disorders
#6
Çigdem Öksüz, Ipek Alemdaroglu, Muhammed Kilinç, Hatice Abaoglu, Cevher Demirci, Sevilay Karahan, Oznur Yilmaz, Sibel Aksu Yildirim
This study was performed to examine the reliability and validity of the Turkish version of ABILHAND-Kids questionnaire which assesses manual functions of children with neuromuscular diseases (NMDs). A cross sectional survey study design and Rasch analysis were used to assess the reliability and validity of the Turkish version of scale. Ninety-three children with different neuromuscular disorders and their parents were included in the study. The scale was applied to the parents with face-to-face interview twice; on their first visit and after an interval of 15 days...
July 17, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28714989/correction-of-a-splicing-defect-in-a-mouse-model-of-congenital-muscular-dystrophy-type-1a-using-a-homology-directed-repair-independent-mechanism
#7
Dwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, Huayun Hou, Maylynn Ding, Kara M Place, Xinyi Zhu, Prabhpreet Bassi, Zahra Baghestani, Amit G Deshwar, Daniele Merico, Hui Y Xiong, Brendan J Frey, Michael D Wilson, Evgueni A Ivakine, Ronald D Cohn
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is extremely inefficient in postmitotic tissues such as skeletal muscle. Here we describe a strategy using nonhomologous end-joining (NHEJ) to correct a pathogenic splice-site mutation...
July 17, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28713509/mechanical-ventilation-practice-in-egyptian-pediatric-intensive-care-units
#8
Bassant Salah Meligy, Sally Kamal, Seham Awad El Sherbini
INTRODUCTION: Mechanical ventilation is one of the indispensable tools in pediatric intensive care units. Few studies addressed the epidemiology of pediatric patients on mechanical ventilation and the frequently used modes of ventilation. This is the first study to describe the practice of mechanical ventilation (MV) in Egyptian pediatric intensive care units (PICUs). METHODS: This prospective observational study was conducted from January 2014 to December 2014 in two pediatric intensive care units at Cairo University Pediatric Hospital...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28711998/medical-history-of-chemotherapy-or-immunosuppressive-drug-treatment-and-risk-of-amyotrophic-lateral-sclerosis-als
#9
Thomas Kuczmarski, Elijah W Stommel, Kristen Riley, Rup Tandan, Vinay Chaudhry, Lora Clawson, Tracie A Caller, Patricia L Henegan, Dominic N Facciponte, Walter G Bradley, Angeline S Andrew
A recent population-based analysis demonstrated lower risk of the lethal degenerative neuromuscular disease, amyotrophic lateral sclerosis (ALS) associated with history of the use of 'antineoplastic agents' and 'immunosuppressants'. To see if this finding was generalizable to other ALS cohorts, we examined associations between use of these agents and ALS risk in an independent case-control study of n = 414 ALS patients and n = 361 controls in an Eastern US population. Controls were sampled from the general population and among non-neurodegenerative disease patients...
July 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#10
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28702830/sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#11
REVIEW
Mohamad Ammar Albdewi, Giuseppe Liistro, Riëm El Tahry
Sleep-disordered breathing (SDB) is relatively common in general population as well as in patients with neuromuscular disease. SDB comprises a wide spectrum of disorders varying from simple snoring to complete closure of the upper airway as seen in obstructive sleep apnoea (OSA). It includes also other disorders like prolonged hypoxemia, hypoventilation, and central sleep apnoea (CSA). Neuromuscular diseases (NMD) form a group of disorders that can cause significant reduction in the quality and span of life...
July 12, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28701774/inhibition-of-%C3%AE-glucocerebrosidase-activity-preserves-motor-unit-integrity-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#12
Alexandre Henriques, Mylene Huebecker, Hélène Blasco, Céline Keime, Christian R Andres, Philippe Corcia, David A Priestman, Frances M Platt, Michael Spedding, Jean-Philippe Loeffler
Recent metabolomic reports connect dysregulation of glycosphingolipids, particularly ceramide and glucosylceramide, to neurodegeneration and to motor unit dismantling in amyotrophic lateral sclerosis at late disease stage. We report here altered levels of gangliosides in the cerebrospinal fluid of amyotrophic lateral sclerosis patients in early disease stage. Conduritol B epoxide is an inhibitor of acid beta-glucosidase, and lowers glucosylceramide degradation. Glucosylceramide is the precursor for all of the more complex glycosphingolipids...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28700491/long-term-follow-up-of-patients-with-intestinal-neuronal-dysplasia-type-b-protocol-for-an-observational-ambispective-and-comparative-study
#13
Pedro Luiz Toledo de Arruda Lourenção, Erika Veruska Paiva Ortolan, Laura Luiza Minelli Rosa, Marcos Curcio Angelini, Simone Antunes Terra, Maria Aparecida Marchesan Rodrigues
Intestinal neuronal dysplasia type B (IND-B) is a pathological entity of the group of gastrointestinal neuromuscular diseases characterized by complex alterations in the enteric nervous system. Patients typically present with intestinal constipation, sometimes complicated by episodes of intestinal obstruction. The 2 therapeutic modalities include conservative clinical treatment and surgical treatment. Nevertheless, the results of the different therapeutic modalities are conflicting, and follow-up studies are scarce and include only a limited number of patients...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28700370/neuromuscular-problems-in-the-icu
#14
Maxwell S Damian, Ravi Srinivasan
PURPOSE OF REVIEW: Patients with acute life-threatening neuromuscular disease require close cooperation between neuromuscular and intensive care specialists to achieve the best possible outcomes. The problems encountered by these patients are different from those in traditional neuromuscular practice, and neurologists consulting in the ICU need a specific skill set to provide useful guidance. However, outcomes can be very good if treatment is instituted effectively. This review aims to provide an overview of the most important neuromuscular conditions encountered in the ICU and enable a practical approach to patient management...
July 11, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28695364/revisiting-mitochondrial-ocular-myopathies-a-study-from-the-italian-network
#15
D Orsucci, C Angelini, E Bertini, V Carelli, G P Comi, A Federico, C Minetti, M Moggio, T Mongini, F M Santorelli, S Servidei, P Tonin, A Ardissone, L Bello, C Bruno, E Caldarazzo Ienco, D Diodato, M Filosto, C Lamperti, I Moroni, O Musumeci, E Pegoraro, G Primiano, D Ronchi, A Rubegni, S Salvatore, M Sciacco, M L Valentino, L Vercelli, A Toscano, M Zeviani, G Siciliano, M Mancuso
Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". We distinguished patients with ocular myopathy as part of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy), and then PEO with isolated ocular myopathy from PEO-plus when PEO was associated with additional features of multisystemic involvement...
July 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28694199/initiation-of-non-invasive-ventilation-for-sleep-related-hypoventilation-disorders-advanced-modes-and-devices
#16
REVIEW
Bernardo J Selim, Lisa Wolfe, John M Coleman, Naresh Dewan
Although non-invasive ventilation (NIV) has been used since the 1960's in the polio epidemic, the development of modern bilevel PAP devices did not become a reality until the 1990's. Over the last 25 years bilevel PAP technology options have exponentially increased. The number of patients receiving this treatment both in the acute setting as well as at home is steadily growing. However, a knowledge gap exists in the way these device settings are adjusted to achieve synchrony and match patient's unique respiratory failure physiology...
July 7, 2017: Chest
https://www.readbyqxmd.com/read/28691974/peroral-endoscopic-myotomy-in-children-with-achalasia-a-relatively-long-term-single-center-study
#17
Miao Shijian, Wu Jie, Lu Junping, Wang Yuhuan, Tang Zifei, Zhou Ying, Huang Zhiheng, Ying Huang, Zhou Pinghong
BACKGROUND: Achalasia is a disease caused by neuromuscular dysfunction in the esophagogastric junction, with a relatively low incidence among children. Peroral endoscopic myotomy (POEM) is a new endoscopic procedure for the treatment of achalasia, however it is rarely applied in children. OBJECTIVES: We aim to study the feasibility, safety, and effectiveness of POEM as a treatment for pediatric achalasia. METHODS: A total of 21 pediatric patients (aged from 11 months to 18 years) diagnosed with achalasia and treated with POEM from October of 2014 to October of 2016 in our hospital were included in our study...
July 6, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28690698/assessment-of-the-rates-and-characteristics-of-the-short-term-supply-of-medication-tider-from-an-integrated-healthcare-delivery-system-in-the-united-states
#18
Thomas Delate, Steven Wang
OBJECTIVES: The purpose of this study was to describe the rate of medication short-term supply dispensings (tider), patient and medication characteristics associated with a tider, and costs for tider dispensings in an integrated healthcare delivery system in Colorado, United States. METHODS: This was a retrospective study conducted in an integrated healthcare delivery system's outpatient clinics. All patients who had a prescription dispensed for a study medication at any of the system's 28 outpatient pharmacies during the first quarter of 2016 were included...
April 2017: Pharmacy Practice
https://www.readbyqxmd.com/read/28690393/effect-on-lung-function-of-mounthpiece-ventilation-in-steinert-disease-a-case-report
#19
Anna Annunziata, Giuseppe Fiorentino, Antonio Esquinas
In patients with muscular dystrophies both muscle length tension relationship changes and muscle elasticity and plasticity are decreased, resulting in impaired inspiratory muscle function and decreased vital capacity. Furthermore, the loss of deep breathing further increases the risk of alveolar collapse, hypoventilation and atelectasias. In this case report, a stable improvement of vital capacity after treatment with mounthpiece ventilation (MPV), was observed, suggesting that not invasive ventilation (NIV) might help to maintai lung and chest wall compliance, prevent hypoventilation and atelectasias which in turn may slow down the development of the restrictive respiratory pattern...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690392/congenital-myasthenic-syndrome-phenotypic-variability-in-patients-harbouring-p-t159p-mutation-in-chrne-gene
#20
Anna Ardissone, Isabella Moroni, Pia Bernasconi, Raffaella Brugnoni
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the neuromuscular junction, are currently known to be associated with subtypes of CMS. The most common CMS syndrome identified is associated with mutation in the CHRNE gene, causing principally muscle nicotinic acetylcholine receptor deficiency, that results in reduced receptor density on the postsynaptic membrane...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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