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neuromuscular respiratory disorders

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https://www.readbyqxmd.com/read/28318818/twitch-mouth-pressure-for-detecting-respiratory-muscle-weakness-in-suspicion-of-neuromuscular-disorder
#1
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
#2
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
#3
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
#4
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
#5
Eelco F M Wijdicks
Forces involved in breathing-which effectively pull in air-are the diaphragmatic, intercostal, spine, and neck muscles. Equally important are 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...
March 2, 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
#6
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário 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
#7
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
https://www.readbyqxmd.com/read/28181267/longitudinal-course-of-lung-function-in-myotonic-dystrophy-type-1
#8
Catherine Thil, Nelly Agrinier, Bruno Chenuel, Mathias Poussel
INTRODUCTION: Quality of life and prognosis among patients with myotonic dystrophy type 1 (DM1) depend on the degree of respiratory impairment. However the changes over time in pulmonary function in DM1 have not been clearly described. METHODS: We retrospectively reviewed pulmonary function tests of 80 DM1 patients followed for at least 5 years. RESULTS: During 9.02 ± 3.4 years of follow-up, the average annual changes were: forced vital capacity (FVC) -0...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28177173/perioperative-considerations-in-infantile-neuroaxonal-dystrophy
#9
Jina L Sinskey, Robert S Holzman
Infantile neuroaxonal dystrophy is a rare neurological disorder that is universally fatal with life expectancy under 10 years. A 10-year-old boy with infantile neuroaxonal dystrophy and severe neuromuscular scoliosis underwent posterior spinal fusion following halo traction. He was successfully extubated to bilevel positive airway pressure on postoperative day 3 and discharged home on postoperative day 11. Infantile neuroaxonal dystrophy presents several perioperative challenges including concerns for difficult intubation and respiratory dysfunction...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28175990/starplasty-tracheostomy-case-series-and-literature-review
#10
Yehuda Schwarz, Nidal Muhanna, David Raveh, Chanan Shaul, Sarit Shahroor, Uri Peleg, Pierre Attal, Jean-Yves Sichel
OBJECTIVES: The starplasty tracheostomy (SPT) technique has been suggested to reduce the short-term complications of tracheostomy, including accidental decannulation and pneumothorax. The aim of the present study was to conduct a review of key parameters prior to and following treatment of neonates and children with the SPT technique, including indications, complications, perioperative department stay, and overall length of stay in one University-Affiliated Medical Center. METHODS: A retrospective chart review of all children under the age of 18 underwent SPT in a single center between February 2006 and January 2012...
February 7, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28159100/social-and-economic-impacts-of-managing-sleep-hypoventilation-syndromes
#11
REVIEW
Dianne M Augelli, Ana C Krieger
Hypoventilation during sleep is often an early indicator of the development of respiratory failure. Alterations in ventilation are more pronounced during sleep and often present before the onset of daytime symptoms. This article discusses the most common sleep-related hypoventilatory disorders and recommended treatment approaches for obesity hypoventilation, chronic obstructive pulmonary disease, and neuromuscular disorders. Accurate diagnosis and appropriate treatment is of paramount importance because of the impact on individual health outcomes and overall cost of health care delivery...
March 2017: Sleep Medicine Clinics
https://www.readbyqxmd.com/read/28088797/automated-interpretation-of-pulmonary-function-tests-in-adults-with-respiratory-complaints
#12
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...
2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#13
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/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#14
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
#15
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/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/28062220/sleep-lung-function-and-quality-of-life-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#17
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)...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27976420/myopathology-in-congenital-myopathies
#18
REVIEW
C A Sewry, C Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27923982/effect-of-expiratory-positive-airway-pressure-on-tidal-volume-during-non-invasive-ventilation
#19
W Kinnear, L Watson, P Smith, L Johnson, S Burrows, J Colt, M Sovani, A Khanna
During non-invasive ventilation (NIV), tidal volume (V t) will depend upon the difference between inspiratory and expiratory positive airway pressure (IPAP and EPAP, respectively), provided the respiratory muscles are relaxed and the lungs and chest wall therefore move along their passive pressure-volume curves. To test this hypothesis, we studied the effect of increasing EPAP during pressure-controlled modes of NIV in 30 long-term ventilator users (10 each with scoliosis, obesity hypoventilation or neuromuscular disorders)...
December 6, 2016: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#20
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
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