keyword
MENU ▼
Read by QxMD icon Read
search

Neuromuscular diseases

keyword
https://www.readbyqxmd.com/read/28731862/muscle-neuromuscular-junction-and-peripheral-nerve-diseases
#1
Jean-Marc Léger
No abstract text is available yet for this article.
July 20, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28730486/phosphoproteomic-analysis-of-isolated-mitochondria-in-yeast
#2
Margaux Renvoisé, Ludovic Bonhomme, Marlène Davanture, Michel Zivy, Claire Lemaire
Mitochondria play a central role in cellular energy metabolism and cell death. Deregulation of mitochondrial functions is associated with several human pathologies (neurodegenerative diseases, neuromuscular diseases, type II diabetes, obesity, cancer). The steadily increasing number of identified mitochondrial phosphoproteins, kinases, and phosphatases in recent years suggests that reversible protein phosphorylation plays an important part in the control of mitochondrial processes. In addition, many mitochondrial phosphoproteins probably still remain to be identified, considering that 30% of proteins are expected to be phosphorylated in eukaryotes...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28728956/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd-a-multicentre-randomised-double-blind-placebo-controlled-phase-3-trial
#3
Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, Gary Elfring, Hans Kroger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Souza, Robert J Spiegel, Stuart W Peltz, Eugenio Mercuri
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America...
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28728932/the-complex-restrictive-pulmonary-function-pattern-clinical-and-radiological-analysis-of-a-common-but-previously-undescribed-restrictive-pattern
#4
Ryan D Clay, Vivek N Iyer, Dereddi Raja Reddy, Brittany Siontis, Paul D Scanlon
BACKGROUND: Most patients with restriction have a PFT pattern in which TLC, FVC and FEV1 are reduced to a similar degree. We call this pattern 'simple' restriction (SR). In contrast, we commonly observe a pattern in which FVC percent predicted (pp) is disproportionately reduced relative to TLCpp. We term this pattern 'complex restriction' (CR) and attempted to characterize its clinical, radiologic and physiologic features. METHODS: We reviewed PFTs of patients tested between November 2009 and June 2013 who had restriction (TLC<LLN)...
July 17, 2017: Chest
https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
COMPARATIVE STUDY
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
#18
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
#19
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
#20
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
keyword
keyword
24257
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"