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neuromuscular respiratory disorders

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https://www.readbyqxmd.com/read/27888814/diaphragmatic-dysfunction-after-thoracic-operations
#1
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...
November 26, 2016: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#2
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
#3
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
#4
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
#5
Thomas J Conlon, Cathryn S Mah, Christina A R Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, Charles C 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...
November 17, 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
#6
Kothari Sonam, Parayil Sankaran Bindu, Mm 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
#7
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-rsv-in-canada-and-italy-an-international-prospective-cohort-study
#8
Paolo Manzoni, Bosco Paes, Krista L Lanctôt, Alberto DallʼAgnola, 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 (wGA); Group1) were compared with infants given palivizumab for underlying disorders regardless of gestational age (Group2)...
September 19, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27634920/perspective-on-physical-therapist-management-of-functional-constipation
#9
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
#10
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
https://www.readbyqxmd.com/read/27568896/sleep-disordered-breathing-and-effects-of-noninvasive-ventilation-in-patients-with-late-onset-pompe-disease
#11
Matthias Boentert, Bianca Dräger, Christian Glatz, Peter Young
STUDY OBJECTIVES: In neuromuscular disease, non-invasive ventilation (NIV) is indicated if sleep-disordered breathing (SDB) or significant respiratory muscle weakness (RMW) is present. We investigated immediate and long-term effects of NIV on sleep and nocturnal ventilation in patients with late-onset Pompe disease (LOPD). METHODS: Polysomnography and transcutaneous capnometry were performed in 22 adult patients. If indicated, NIV was initiated the subsequent night and follow-up sleep studies were scheduled...
August 22, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27552026/respiratory-muscle-weakness-and-respiratory-failure-in-pediatric-neuromuscular-disorders-the-value-of-noninvasive-determined-tension-time-index
#12
Florian Stehling, Katharina Alfen, Christian Dohna-Schwake, Uwe Mellies
Background In pediatric neuromuscular disorders (NMD), respiratory muscle weakness parallels respiratory failure. The objectives of this study are (1) to evaluate respiratory muscle capacity in neuromuscular children and (2) to assess the relationship between vital capacity, respiratory muscle performance, and alveolar ventilation during sleep and wakefulness. Methods Inspiratory vital capacity (IVC), peak inspiratory pressure (PIP), mouth occlusion pressure (P0.1), and noninvasive tension-time index of the respiratory muscles (TTImus) were studied in 80 NMD subjects (12...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27526372/cardiac-implantable-electronic-devices-in-tracheotomized-muscular-dystrophy-patients-safety-and-risks
#13
Abdallah Fayssoil, Arnaud Lazarus, Karim Wahbi, Adam Ogna, Olivier Nardi, Frederic Lofaso, Bernard Clair, David Orlikowski, Djillali Annane
BACKGROUND/OBJECTIVES: Muscular dystrophies are genetic muscle disorders, in which heart involvement and chronic respiratory impairment affect survival. Cardiac conduction disturbances require implantable cardiac pacemaker. Implantable defibrillators may also be necessary to prevent cardiac sudden death. The safety and risk of cardiac electronic devices' implantation are not known in patients with muscular dystrophy. We aimed to assess the risks related to cardiac implantable electronic devices (CIED) in muscular dystrophy patients ventilated by tracheostomy...
November 1, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27517504/the-use-of-crispr-cas-associated-technologies-for-cell-transplant-applications
#14
Peter J Cowan
PURPOSE OF REVIEW: In this review, I will summarize recent developments in the use of the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9) genome editing system for cell transplant applications, ranging from transplantation of corrected autologous patient stem cells to treat inherited diseases, to the tailoring of donor pigs for cell xenotransplantation. Rational engineering of the Cas9 nuclease to improve its specificity will also be discussed...
October 2016: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/27501653/anesthetic-considerations-of-stiff-person-syndrome-a-case-report
#15
Kristi Hylan, An-Duyen Nguyen Vu, Katherine Stammen
Stiff-person syndrome (SPS) is a neurologic disorder characterized by painful involuntary episodes of severe muscle rigidity affecting the axial muscles and extremities. Although the etiology of SPS is unknown, it is suspected to involve the synthesis of γ-aminobutyric acid (GABA). Symptoms of SPS are precipitated by sudden unexpected movements, noises, and stress. Additionally, SPS has been linked with various autoimmune disorders, including diabetes mellitus, thyroid disease, pernicious anemia, and certain cancers...
June 2016: AANA Journal
https://www.readbyqxmd.com/read/27501478/perioperative-complications-and-outcomes-in-children-with-cerebral-palsy-undergoing-scoliosis-surgery
#16
Anju A Bendon, Khristine A George, Davandra Patel
INTRODUCTION: Neuromuscular scoliosis is a known risk factor for postoperative complications after corrective spine surgery. Few studies have looked at the preoperative factors affecting postoperative complications in children with cerebral palsy. AIM: The aim of this study was to examine the factors that might influence postoperative course in patients with cerebral palsy undergoing spine surgery for scoliosis. METHODS: Nineteen case notes of children with cerebral palsy who had spine surgery (2008-2014) were reviewed retrospectively...
October 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27487721/prospects-and-progress-in-cell-therapy-for-acute-respiratory-distress-syndrome
#17
Fernanda F Cruz, Daniel J Weiss, Patricia R M Rocco
INTRODUCTION: Despite progress in understanding the pathophysiology of the acute respiratory distress syndrome (ARDS), it remains a devastating clinical disorder associated with high mortality rates, and those who survive can experience significant long-term morbidity. Recent advances in the management of ARDS have mostly been achieved in supportive care, including the use of protective mechanical ventilation, neuromuscular blocking agents, prone positioning, and conservative fluid strategies...
August 4, 2016: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/27453480/inspiratory-muscle-conditioning-exercise-and-diaphragm-gene-therapy-in-pompe-disease-clinical-evidence-of-respiratory-plasticity
#18
Barbara K Smith, A Daniel Martin, Lee Ann Lawson, Valerie Vernot, Jordan Marcus, Saleem Islam, Nadeem Shafi, Manuela Corti, Shelley W Collins, Barry J Byrne
Pompe disease is an inherited disorder due to a mutation in the gene that encodes acid α-glucosidase (GAA). Children with infantile-onset Pompe disease develop progressive hypotonic weakness and cardiopulmonary insufficiency that may eventually require mechanical ventilation (MV). Our team conducted a first in human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory neural dysfunction in infantile-onset Pompe. Subjects (aged 2-15years, full-time MV: n=5, partial/no MV: n=4) underwent a period of preoperative inspiratory muscle conditioning exercise...
July 21, 2016: Experimental Neurology
https://www.readbyqxmd.com/read/27445559/clinical-outcomes-associated-with-home-mechanical-ventilation-a-systematic-review
#19
REVIEW
Erika J MacIntyre, Leyla Asadi, Doug A Mckim, Sean M Bagshaw
Background. The prevalence of patients supported with home mechanical ventilation (HMV) for chronic respiratory failure has increased. However, the clinical outcomes associated with HMV are largely unknown. Methods. We performed a systematic review of studies evaluating patients receiving HMV for indications other than obstructive lung disease, reporting at least one clinically relevant outcome including health-related quality of life (HRQL) measured by validated tools; hospitalization requirements; caregiver burden; and health service utilization...
2016: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
https://www.readbyqxmd.com/read/27427990/respiratory-failure-because-of-neuromuscular-disease
#20
Robin S Howard
PURPOSE OF REVIEW: Understanding the mechanisms and abnormalities of respiratory function in neuromuscular disease is critical to supporting the patient and maintaining ventilation in the face of acute or chronic progressive impairment. RECENT FINDINGS: Retrospective clinical studies reviewing the care of patients with Guillain-Barré syndrome and myasthenia have shown a disturbingly high mortality following step-down from intensive care. This implies high dependency and rehabilitation management is failing despite evidence that delayed improvement can occur with long-term care...
October 2016: Current Opinion in Neurology
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