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neuromuscular respiratory disorders

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https://www.readbyqxmd.com/read/28088797/automated-interpretation-of-pulmonary-function-tests-in-adults-with-respiratory-complaints
#1
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/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#2
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
#3
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
#4
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
#5
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
#6
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/27976420/myopathology-in-congenital-myopathies
#7
Caroline A Sewry, Carina Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterised by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth whilst others have a milder, moderately progressive or non-progressive 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...
December 15, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27923982/effect-of-expiratory-positive-airway-pressure-on-tidal-volume-during-non-invasive-ventilation
#8
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
#9
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
https://www.readbyqxmd.com/read/27920092/definition-discrimination-diagnosis-and-treatment-of-central-breathing-disturbances-during-sleep
#10
Winfried Randerath, Johan Verbraecken, Stefan Andreas, Michael Arzt, Konrad E Bloch, Thomas Brack, Bertien Buyse, Wilfried De Backer, Danny Joel Eckert, Ludger Grote, Lars Hagmeyer, Jan Hedner, Poul Jennum, Maria Teresa La Rovere, Carla Miltz, Walter T McNicholas, Josep Montserrat, Matthew Naughton, Jean-Louis Pepin, Dirk Pevernagie, Bernd Sanner, Dries Testelmans, Thomy Tonia, Bart Vrijsen, Peter Wijkstra, Patrick Levy
The complexity of central breathing disturbances during sleep has become increasingly obvious. They present as central sleep apnoeas (CSAs) and hypopnoeas, periodic breathing with apnoeas, or irregular breathing in patients with cardiovascular, other internal or neurological disorders, and can emerge under positive airway pressure treatment or opioid use, or at high altitude. As yet, there is insufficient knowledge on the clinical features, pathophysiological background and consecutive algorithms for stepped-care treatment...
December 5, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27888814/diaphragmatic-dysfunction-after-thoracic-operations
#11
Henning Gaissert, Susan R Wilcox
The perioperative management of diaphragmatic weakness and phrenic nerve dysfunction is complex, due to varied etiologies and clinical presentations. The factors leading to diaphragmatic weakness may culminate after the operation with transient or persistent respiratory failure. This review discusses diaphragmatic disorders and postoperative respiratory failure caused by unilateral or bilateral diaphragmatic impairment. The origins of neuromuscular weakness involving the diaphragm are diverse, and often lie within the domains of different medical specialties, with only a portion of the condition related to surgical intervention...
December 2016: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#12
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Cynthia White, Anne M Rutkowski, Raouf S Amin, Avani C Modi
BACKGROUND: Congenital muscular dystrophy (CMD) is a rare, inherited neuromuscular disease characterized by progressive muscle weakness, thoracic insufficiency, and ultimately respiratory failure. Adherence to respiratory therapies in children with neuromuscular disorders is unknown. This study examined the multimodal assessment of adherence and barriers to 15 min, twice daily hyperinsufflation in children with CMD. Adherence was hypothesized to be greater than 50% and discomfort, embarrassment, and difficulty finding time were hypothesized to be barriers...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27863379/targeted-next-generation-sequencing-identifies-two-novel-mutations-in-sepn1-in-rigid-spine-muscular-dystrophy-1
#13
Yi Dai, Shengran Liang, Yan Huang, Lin Chen, Santasree Banerjee
Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can lead to death by respiratory failure. Mutations of SEPN1 gene are associated with autosomal recessive RSMD1. Here, we present a clinical molecular study of a Chinese proband with RSMD1. The proband is a 17 years old male, showing difficulty in feeding, delayed motor response, problem in running with frequent fall down, early onset respiratory insufficiency, general muscle weakness and rigid cervical spine...
November 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27856936/reveglucosidase-alfa-bmn-701-an-igf-2-tagged-rhacid-%C3%AE-glucosidase-improves-respiratory-functional-parameters-in-a-murine-model-of-pompe-disease
#14
Jeff Peng, Jill Dalton, Mark Butt, Kristin Tracy, Derek Kennedy, Peter Haroldsen, Rhea Cahayag, Stephen Zoog, Charles A O'Neill, Laurie Tsuruda
Pompe disease is a rare neuromuscular disorder caused by an acid α-glucosidase (GAA) deficiency resulting in glycogen accumulation in muscle, leading to myopathy and respiratory weakness. Reveglucosidase alfa (BMN 701), is an insulin-like growth factor 2 (IGF2) tagged rhGAA that enhances rhGAA cellular uptake via a glycosylation independent IGF2-binding region of the cation-independent mannose-6-phosphate receptor (CI-MPR). These studies evaluated the effects of reveglucosidase alfa treatment on glycogen clearance in muscle relative to rhGAA as well as changes in respiratory function and glycogen clearance in respiratory related tissue in a Pompe mouse model (GAA(tm1Rabn))...
November 16, 2016: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#15
Thomas J Conlon, Cathryn S Mah, Christina A Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, C Chang I Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa(-/-) mice resulted in high-level transduction of the diaphragm...
December 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#16
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders accounts for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
November 5, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27701747/oral-appliances-and-functional-orthopaedic-appliances-for-obstructive-sleep-apnoea-in-children
#17
REVIEW
Fernando R Carvalho, Débora A Lentini-Oliveira, Lucila Bf Prado, Gilmar F Prado, Luciane Bc Carvalho
BACKGROUND: Apnoea is a breathing disorder marked by the absence of airflow at the nose or mouth. In children, risk factors include adenotonsillar hypertrophy, obesity, neuromuscular disorders and craniofacial anomalies. The most common treatment for obstructive sleep apnoea syndrome (OSAS) in childhood is adeno-tonsillectomy. This approach is limited by its surgical risks, mostly in children with comorbidities and, in some patients, by recurrence that can be associated with craniofacial problems...
October 5, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27649365/outcomes-of-infants-receiving-palivizumab-prophylaxis-for-respiratory-syncytial-virus-in-canada-and-italy-an-international-prospective-cohort-study
#18
Paolo Manzoni, Bosco Paes, Krista L Lanctôt, Alberto Dall'Agnola, Ian Mitchell, Sara Calabrese, Milena Maule, Elisa Girardi, Tetsuhiro Harimoto, Abby Li
BACKGROUND: Respiratory syncytial virus (RSV) infection frequently results in RSV-related hospitalization (RSVH) in young infants. We examined the outcomes of palivizumab recipients within the Canadian Registry (CARESS) and the Torino-Verona Italian Registry over the 2002-2014 RSV seasons. METHODS: RSVHs were captured during the study seasons. Premature infants who received palivizumab (≤35 completed weeks' gestational age; group1) were compared with infants given palivizumab for underlying disorders regardless of gestational age (group 2)...
January 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27634920/perspective-on-physical-therapist-management-of-functional-constipation
#19
Susan E George, Diane F Borello-France
Functional constipation is a common bowel disorder leading to activity restrictions and reduced health-related quality of life. Typically, this condition is initially managed with prescription of laxatives or fiber supplementation, or both. However, these interventions are often ineffective and fail to address the underlying pathophysiology and impairments contributing to this condition. Physical therapists possess the knowledge and skills to diagnose and manage a wide range of musculoskeletal and motor coordination impairments that may contribute to functional constipation...
September 15, 2016: Physical Therapy
https://www.readbyqxmd.com/read/27576233/respiratory-conditions-update-restrictive-lung-disease
#20
REVIEW
H Coleman Robinson
Restrictive lung diseases are a heterogeneous group of conditions characterized by a restrictive pattern on spirometry and confirmed by a reduction in total lung volume. Patients with more severe symptoms may have a reduced diffusing capacity of the lung for carbon monoxide. Etiologies can be intrinsic with lung parenchymal involvement, as in interstitial lung diseases, or extrinsic to the lung, as in obesity and neuromuscular disorders. Idiopathic pulmonary fibrosis is a chronic progressive interstitial pneumonia with fibrosis for which treatment is primarily supportive with oxygen therapy, pulmonary rehabilitation, and management of comorbid conditions...
September 2016: FP Essentials
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