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https://www.readbyqxmd.com/read/28109487/utility-of-polysomnography-in-determination-of-laryngomalacia-severity
#1
Jacqueline E Weinstein, Claire M Lawlor, Eric L Wu, Kimsey H Rodriguez
OBJECTIVE: To examine the efficacy of polysomnography in determining the severity of laryngomalacia in pediatric patients. METHODS: Prospective cohort study. Pediatric patients referred to our pediatric otolaryngology department with a polysomnogram already performed for a presumptive diagnosis of laryngomalacia were enrolled in the study. Patients with concurrent airway lesions or neuromuscular disorders were excluded. Patients underwent history, physical exam, and flexible fiberoptic laryngoscopy...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28107760/intraneural-ganglion-cyst-of-the-ulnar-nerve-in-an-unusual-location-a-case-report
#2
Ufuk Öztürk, Ahmet Salduz, Mehmet Demirel, Tuna Pehlivanoğlu, Sevan Sivacioğlu
INTRODUCTION: Intraneural ganglion cysts are benign, mucinous, non-neoplastic lesions of the peripheral nerves. While the most common location of intraneural ganglion cysts is the ulnar nerve and its branches, intraneural ganglion cyst involving the superficial branch of the ulnar nerve has not yet been reported. PRESENTATION OF CASE: A-25-year-old woman presented with pain and a palpable mass in the hypothenar region of the volar side of her right hand. Her neuromuscular examination was normal...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28105529/upper-gi-disorders-pathophysiology-and-current-therapeutic-approaches
#3
Henry P Parkman
Symptoms referable to the upper digestive tract are associated with abnormalities of upper gastric neuromuscular function including abnormalities of motility, sensation, and absorption. Of the upper digestive tract, the stomach is of particular importance in its role in symptom generation, and is highlighted in this chapter. Gastric symptoms can be associated with alterations in the rates of gastric emptying, impaired accommodation, heightened gastric sensation, or alterations in gastric myoelectrical activity and contractility...
January 20, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28103859/treatment-with-soluble-activin-type-iib-receptor-improves-bone-mass-and-strength-in-a-mouse-model-of-duchenne-muscular-dystrophy
#4
Tero Puolakkainen, Hongqian Ma, Heikki Kainulainen, Arja Pasternack, Timo Rantalainen, Olli Ritvos, Kristiina Heikinheimo, Juha J Hulmi, Riku Kiviranta
BACKGROUND: Inhibition of activin/myostatin pathway has emerged as a novel approach to increase muscle mass and bone strength. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that leads to progressive muscle degeneration and also high incidence of fractures. The aim of our study was to test whether inhibition of activin receptor IIB ligands with or without exercise could improve bone strength in the mdx mouse model for DMD. METHODS: Thirty-two mdx mice were divided to running and non-running groups and to receive either PBS control or soluble activin type IIB-receptor (ActRIIB-Fc) once weekly for 7 weeks...
January 19, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28099287/anesthetic-outcomes-of-children-with-arthrogryposis-syndromes-no-evidence-of-hyperthermia
#5
Stephen J Gleich, Michael Tien, Darrell R Schroeder, Andrew C Hanson, Randall Flick, Michael E Nemergut
BACKGROUND: Arthrogryposis syndromes are a heterogeneous group of disorders characterized by congenital joint contractures often requiring multiple surgeries during childhood to address skeletal and visceral abnormalities. Previous reports suggest that these children have increased perioperative risk, including hypermetabolic events discrete from malignant hyperthermia, difficult airway management, isolated hyperthermia, and difficult IV line placement. We sought to compare children with arthrogryposis multiplex congenita (AMC) versus the less severe, distal arthrogryposis syndromes (DAS) and to evaluate possible intraoperative hyperthermia of patients with AMC...
January 17, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28097856/-transition-experience-of-patients-with-neuromuscular-disease
#6
Valeria Greif, Florencia Ugo, M Fernanda de Castro Pérez, Julieta Mozzoni, Verónica Aguerre, Milagros Saldías, M Soledad Monges
Neuromuscular diseases are mostly genetic disorders, with chronic and progressive course. Affected people are at high risk of developing physical and emotional disabilities. In the last decades, the advance in technology and science has increased chronic pediatric patients survival rate, thus requiring an ongoing assistance in adult hospitals, making the transition a necessity and a challenge. This article reports the clinical practice designed between Hospital Garrahan and Hospital Ramos Mejía for the transition of 27 adolescents during 2015, setting achievements, findings and challenges resulting from this experience...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28088797/automated-interpretation-of-pulmonary-function-tests-in-adults-with-respiratory-complaints
#7
Marko Topalovic, Stefan Laval, Jean-Marie Aerts, Thierry Troosters, Marc Decramer, Wim Janssens
BACKGROUND: The use of pulmonary function tests is primarily based on expert opinion and international guidelines. Current interpretation strategies are using predefined cutoffs for the description of a typical pattern. OBJECTIVES: We aimed to explore the predicted disease outcome based on the American Thoracic Society/European Respiratory Society (ATS/ERS) interpreting strategy. Subsequently, we investigated whether an unbiased machine learning framework integrating lung function with clinical variables may provide alternative decision trees resulting in a more accurate diagnosis...
January 12, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28088340/the-role-of-magnetic-resonance-imaging-techniques-in-evaluation-and-management-of-the-idiopathic-inflammatory-myopathies
#8
REVIEW
Jessica Day, Sandy Patel, Vidya Limaye
Magnetic resonance imaging (MRI) is an important tool in the evaluation of neuromuscular disorders. MRI accurately demonstrates muscle oedema, atrophy, subcutaneous pathology and fatty infiltration and also highlights the distribution of muscle involvement. This review examines the role of MRI in evaluation of the idiopathic inflammatory myopathies (IIMs), a heterogeneous group of autoimmune conditions characterised by muscle inflammation and a variety of extra-muscular manifestations. MRI has a clear role in aiding diagnosis of these conditions, guiding muscle biopsy, differentiating subtypes of IIM using a pattern-based approach, and monitoring disease activity in a longitudinal fashion...
November 5, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#9
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#10
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#11
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#12
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28075489/cough-augmentation-techniques-for-extubation-or-weaning-critically-ill-patients-from-mechanical-ventilation
#13
REVIEW
Louise Rose, Neill Kj Adhikari, David Leasa, Dean A Fergusson, Douglas McKim
BACKGROUND: There are various reasons why weaning and extubation failure occur, but ineffective cough and secretion retention can play a significant role. Cough augmentation techniques, such as lung volume recruitment or manually- and mechanically-assisted cough, are used to prevent and manage respiratory complications associated with chronic conditions, particularly neuromuscular disease, and may improve short- and long-term outcomes for people with acute respiratory failure. However, the role of cough augmentation to facilitate extubation and prevent post-extubation respiratory failure is unclear...
January 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28075449/construction-of-an-mirna-regulated-drug-pathway-network-reveals-drug-repurposing-candidates-for-myasthenia-gravis
#14
Yuze Cao, Xiaoyan Lu, Jianjian Wang, Huixue Zhang, Zhaojun Liu, Si Xu, Tianfeng Wang, Shangwei Ning, Bo Xiao, Lihua Wang
Myasthenia gravis (MG) is a rare debilitating autoimmune neuromuscular disorder. Many studies have focused on the mechanism and treatment strategies of MG. However, the exact pathogenesis of MG and effective treatment strategies remain unclear. Recent studies have indicated that microRNAs (miRNAs or miRs) can regulate the pathological pathways of MG, suggesting their potential role in novel treatments. In the present study, we created a comprehensive catalog of experimentally confirmed MG risk genes and miRNAs by manually mining published literature and public databases...
February 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28074267/reduced-serum-myostatin-concentrations-associated-with-genetic-muscle-disease-progression
#15
Peter M Burch, Oksana Pogoryelova, Joe Palandra, Richard Goldstein, Donald Bennett, Lori Fitz, Michela Guglieri, Chiara Marini Bettolo, Volker Straub, Teresinha Evangelista, Hendrik Neubert, Hanns Lochmüller, Carl Morris
Myostatin is a highly conserved protein secreted primarily from skeletal muscle that can potently suppress muscle growth. This ability to regulate skeletal muscle mass has sparked intense interest in the development of anti-myostatin therapies for a wide array of muscle disorders including sarcopenia, cachexia and genetic neuromuscular diseases. While a number of studies have examined the circulating myostatin concentrations in healthy and sarcopenic populations, very little data are available from inherited muscle disease patients...
January 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28067272/the-mechanism-of-catalysis-by-type-ii-nadh-quinone-oxidoreductases
#16
James N Blaza, Hannah R Bridges, David Aragão, Elyse A Dunn, Adam Heikal, Gregory M Cook, Yoshio Nakatani, Judy Hirst
Type II NADH:quinone oxidoreductase (NDH-2) is central to the respiratory chains of many organisms. It is not present in mammals so may be exploited as an antimicrobial drug target or used as a substitute for dysfunctional respiratory complex I in neuromuscular disorders. NDH-2 is a single-subunit monotopic membrane protein with just a flavin cofactor, yet no consensus exists on its mechanism. Here, we use steady-state and pre-steady-state kinetics combined with mutagenesis and structural studies to determine the mechanism of NDH-2 from Caldalkalibacillus thermarum...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28062917/the-enteric-nervous-system-and-the-musculature-of-the-colon-are-altered-in-patients-with-spina-bifida-and-spinal-cord-injury
#17
Marjanne den Braber-Ymker, Martin Lammens, Michel J A M van Putten, Iris D Nagtegaal
Neurogenic bowel dysfunction occurs in a large percentage of adult patients with spina bifida (SB) and spinal cord injury (SCI), significantly affecting their quality of life. Although bowel motility is autonomously regulated by the enteric nervous system (ENS), disruption of the modulation of the ENS by extrinsic innervation as present in many patients with SB and SCI might lead to motility disorders. In order to gain insight in the pathophysiology, we studied histological changes of the neuromuscular structures in the colon of SB and SCI patients...
January 6, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28062220/sleep-lung-function-and-quality-of-life-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#18
Ezequiel Fernandes Oliveira, Sergio Roberto Nacif, Jessica Julioti Urbano, Anderson Soares Silva, Claudia Santos Oliveira, Eduardo Araujo Perez, Melissa Nunes Polaro, Berenice Cataldo Oliveira Valerio, Roberto Stirbulov, Giuseppe Insalaco, Acary Sousa Bulle Oliveira, Luis Vicente Franco Oliveira
The purpose of this study was to investigate the physiological variables of lung function, respiratory muscle strength, and sleep in clinically stable patients with myasthenia gravis. This was a prospective cross-sectional study conducted in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement. Patients adhering to the eligibility criteria were consecutively recruited from the Research Department of Neuromuscular Diseases at the Federal University of Sao Paulo and the Department of Neurology at Santa Casa de Misericordia of Sao Paulo and were referred to the Nove de Julho University Sleep Laboratory (Sao Paulo, Brazil)...
November 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28056494/sensitivity-distribution-simulations-of-surface-electrode-configurations-for-electrical-impedance-myography
#19
Seward Rutkove, Adam Pacheck, Benjamin Sanchez
OBJECTIVE: Surface-based electrical impedance myography (EIM) is sensitive to muscle condition in neuromuscular disorders. However, the specific contribution of muscle to the obtained EIM values is unknown. METHODS: We combined theory and the finite element method to calculate the electrical current distribution in a three-dimensional model using different electrode array designs and subcutaneous fat thicknesses (SFT). Through a sensitivity analysis, we decoupled the contribution of muscle from other surrounding tissues in the measured surface impedance values...
January 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28053302/polymyositis-without-beneficial-response-to-steroid-therapy-should-miyoshi-myopathy-be-a-differential-diagnosis
#20
Renata Siciliani Scalco, Paulo José Lorenzoni, David S Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy...
January 5, 2017: American Journal of Case Reports
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