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https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#1
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28635482/diagnosis-and-management-of-myasthenia-gravis
#2
Christopher Barber
Myasthenia gravis is a rare long-term neurological condition that is characterised by fluctuating skeletal muscle weakness and fatigue, as well as respiratory difficulties. It is both an acquired autoimmune disease and a chronic neuromuscular disorder. Because of its rarity, myasthenia gravis is relatively unknown and may be unfamiliar to many nurses. While there are various types of myasthenia, this article focuses on myasthenia gravis, exploring its symptoms, diagnosis and treatment, and examining the nurse's role in managing the condition...
June 21, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28562381/respiratory-involvement-in-neuromuscular-disorders
#3
Matthias Boentert, Stephan Wenninger, Valeria A Sansone
PURPOSE OF REVIEW: In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of life, or reduces life expectancy. This article summarizes new aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs. RECENT FINDINGS: Drugs like deflazacort, ataluren, eteplirsen, and nusinersen are now approved treatments for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, and others are on their way in NMDs...
May 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28520769/optimal-method-for-assessment-of-respiratory-muscle-strength-in-neuromuscular-disorders-using-sniff-nasal-inspiratory-pressure-snip
#4
Marta Kaminska, Francine Noel, Basil J Petrof
BACKGROUND: The ability to accurately determine respiratory muscle strength is vitally important in patients with neuromuscular disorders (NMD). Sniff nasal inspiratory pressure (SNIP), a test of inspiratory muscle strength, is easier to perform for many NMD patients than the more commonly used determination of maximum inspiratory pressure measured at the mouth (MIP). However, due to an inconsistent approach in the literature, the optimal technique to perform the SNIP maneuver is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#5
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28500219/mechanisms-of-enhanced-phrenic-long-term-facilitation-in-sod1-g93a-rats
#6
Nicole L Nichols, Irawan Satriotomo, Latoya L Allen, Ashley M Grebe, Gordon S Mitchell
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease, causing muscle paralysis and death from respiratory failure. Effective means to preserve/restore ventilation are necessary to increase the quality and duration of life in ALS patients. At disease end-stage in a rat ALS model (SOD1(G93A) ), acute intermittent hypoxia (AIH) restores phrenic nerve activity to normal levels via enhanced phrenic long-term facilitation (pLTF). Mechanisms enhancing pLTF in end-stage SOD1(G93A) rats are not known...
June 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28499810/prevalence-of-late-onset-pompe-disease-in-portuguese-patients-with-diaphragmatic-paralysis-dipper-study
#7
M J Guimarães, J C Winck, B Conde, A Mineiro, M Raposo, J Moita, A Marinho, J M Silva, N Pires, S André, C Loureiro
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes...
May 9, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28484930/heart-shaped-bilateral-medullary-pyramidal-infarction-as-a-pathognomonic-finding-of-anterior-spinal-artery-occlusion
#8
Sammy Searcy, Oluwaseun O Akinduro, Andrew Spector, Jang W Yoon, Benjamin L Brown, William D Freeman
BACKGROUND: Unilateral anterior spinal artery (ASA) occlusion resulting in bilateral medullary pyramidal (BMP) infarction is a rare and devastating stroke subtype. We present two cases highlighting the diagnostic and clinical challenges of BMP infarction. METHODS: Case reports and literature review. RESULTS: A 57-year-old man rapidly had severe vomiting and diarrhea 2 h after a meal. Examination revealed bulbar weakness and areflexic tetraplegia...
May 8, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28484823/-prolonged-weaning-during-early-neurological-and-neurosurgical-rehabilitation-s2k-guideline-published-by-the-weaning-committee-of-the-german-neurorehabilitation-society-dgnr
#9
REVIEW
J D Rollnik, J Adolphsen, J Bauer, M Bertram, J Brocke, C Dohmen, E Donauer, M Hartwich, M D Heidler, V Huge, S Klarmann, S Lorenzl, M Lück, M Mertl-Rötzer, T Mokrusch, D A Nowak, T Platz, L Riechmann, F Schlachetzki, A von Helden, C W Wallesch, D Zergiebel, M Pohl
Prolonged weaning of patients with neurological or neurosurgery disorders is associated with specific characteristics, which are taken into account by the German Society for Neurorehabilitation (DGNR) in its own guideline. The current S2k guideline of the German Society for Pneumology and Respiratory Medicine is referred to explicitly with regard to definitions (e.g., weaning and weaning failure), weaning categories, pathophysiology of weaning failure, and general weaning strategies. In early neurological and neurosurgery rehabilitation, patients with central of respiratory regulation disturbances (e...
May 8, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28462858/neuromuscular-disorders-and-chronic-ventilation
#10
REVIEW
Stamatia Alexiou, Joseph Piccione
Morbidity and mortality have decreased in patients with neuromuscular disease due to implementation of therapies to augment cough and improve ventilation. Infants with progressive neuromuscular disease will eventually develop respiratory complications as a result of muscle weakness and their inability to compensate during periods of increased respiratory loads. The finding of nocturnal hypercapnia is often the trigger for initiating non-invasive ventilation and studies have shown that its use not only may improve sleep-disordered breathing, but also that it may have an effect on daytime function, symptoms related to hypercapnia, and partial pressure of CO2...
April 24, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28448298/anesthetic-consideration-for-neuromuscular-diseases
#11
Jeffery A Katz, Glenn S Murphy
PURPOSE OF REVIEW: The aim of this review is to examine data relating to perioperative management of the patient with neuromuscular disorders RECENT FINDINGS: Patients with pre-existing neuromuscular disorders are at risk for a number of postoperative complications that are related to anesthetic drugs that are administered intraoperatively. Careful preoperative assessment is necessary to reduce morbidity and mortality. In particular, the risk of postoperative respiratory failure and need for long-term ventilation should be reviewed with patients...
June 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28440921/pediatric-pulmonology-year-in-review-2016-part-1
#12
REVIEW
David J Birnkrant, Jane B Black, Ignacio E Tapia, Thomas Nicolai, William A Gower, Terry L Noah
Pediatric Pulmonology continues to publish research and clinical topics related to the entire range of children's respiratory disorders. As we have done annually in recent years, we here summarize the past year's publications in our major topic areas, as well as selected literature in these areas from other core journals relevant to our discipline. This review (Part 1) covers selected articles on sleep, diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases...
April 25, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28372949/sleep-disordered-breathing-in-neuromuscular-disease-diagnostic-and-therapeutic-challenges
#13
REVIEW
Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
Normal sleep related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity, become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease-specific features that promote upper airway collapse or cause dilated cardiomyopathy, contribute to various sleep-disordered breathing events. The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events...
March 31, 2017: Chest
https://www.readbyqxmd.com/read/28318818/twitch-mouth-pressure-for-detecting-respiratory-muscle-weakness-in-suspicion-of-neuromuscular-disorder
#14
Dante Brasil Santos, Gilbert Desmarais, Line Falaize, Adam Ogna, Sandrine Cognet, Bruno Louis, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Twitch mouth pressure using magnetic stimulation of the phrenic nerves and an automated inspiratory trigger is a noninvasive, non-volitional assessment of diaphragmatic strength. Our aims were to validate this method in patients with suspected neuromuscular disease, to determine the best inspiratory-trigger pressure threshold, and to evaluate whether twitch mouth pressure decreased the overdiagnosis of muscle weakness frequently observed with noninvasive volitional tests. Maximal inspiratory pressure, sniff nasal pressure, and twitch mouth pressure were measured in 112 patients with restrictive disease and suspected neuromuscular disorder...
February 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28315283/effect-of-swallowing-rehabilitation-protocol-on-swallowing-function-in-patients-with-esophageal-atresia-and-or-tracheoesophageal-fistula
#15
Selen Serel Arslan, Tutku Soyer, Numan Demir, Sule Yalcın, Ayşe Karaduman, Ibrahim Karnak, Feridun Cahit Tanyel
Aim The aim of this study was to evaluate the results of Swallowing Rehabilitation Protocol (SRP) on swallowing function (SF) of esophageal atresia and tracheoesophageal fistula (EA-TEF) patients with pharyngeal swallowing disorder. Materials and Methods In this study, 24 children with EA-TEF who had deglutitive and respiratory problems were grouped into either study (n = 12) or control group (n = 12) by basic randomization. Study group received the SRP including neuromuscular electrical stimulation, thermal tactile stimulation, and hyolaryngeal mobilization...
March 17, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#16
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28272365/simultaneous-determination-of-three-furanocoumarins-by-uplc-ms-ms-application-to-pharmacokinetic-study-of-angelica-dahurica-radix-after-oral-administration-to-normal-and-experimental-colitis-induced-rats
#17
Youn-Hwan Hwang, Hye Jin Yang, Jin Yeul Ma
In traditional oriental medicine, Angelica dahurica Radix (ADR) is used in the treatment of gastrointestinal, respiratory, neuromuscular, and dermal disorders. We evaluated the pharmacokinetic profiles of oxypeucedanin, imperatorin, and isoimperatorin, major active ingredients of ADR, in normal and 2,4,6-trinitrobenzene sulfonic acid (TNBS)-induced colitis rats. A rapid, sensitive, and validated UPLC/MS/MS method was established for evaluating the pharmacokinetics of three furanocoumarins. After oral administration of ADR (0...
March 7, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28253561/the-neurology-of-acutely-failing-respiratory-mechanics
#18
Eelco F M Wijdicks
Forces involved in breathing-which effectively pull in air-are the diaphragmatic, intercostal, spine, and neck muscles. Equally important is the bulbar musculature maintaining the architecture of a patent airway conduit and abdominal wall and internal intercostal muscles providing cough. Acute injury along a neural trajectory from brainstem to muscle will impair the coordinated interaction between these muscle groups. Acutely failing respiratory mechanics can be caused by central and peripheral lesions. In central lesions, the key lesion is in the nucleus ambiguus innervating the dilator muscles of the soft palate, pharynx, and larynx, but abnormal respiratory mechanics rarely coincide with abnormalities of the respiratory pattern generator...
April 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#19
J Oliveira, M Martins, R Pinto Leite, M Sousa, R Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28187801/management-of-acute-neuromuscular-disorders
#20
REVIEW
E F M Wijdicks
Imminent neuromuscular respiratory failure is recognized by shortness of breath, restlessness, and tachycardia and is often followed by tachypnea, constantly interrupting speech, asynchronous breathing and sometimes paradoxical breathing and use of scalene and sternocleidomastoid muscles. Once a patient presents with such a constellation of signs, there are some difficult decisions to be made and include assessment of the severity of respiratory failure and in particular when to intubate. Failure of the patient to manage secretions as a result of oropharyngeal weakness rather than neuromuscular respiratory weakness may be another reason for acute intubation...
2017: Handbook of Clinical Neurology
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