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https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#1
Jamie Roper, M Emily Fleming, Brit Long, Alex Koyfman
BACKGROUND: Myasthenia gravis (MG) is an uncommon autoimmune disorder affecting the neuromuscular junction and manifesting as muscle weakness. A multitude of stressors can exacerbate MG. When symptoms are exacerbated, muscle weakness can be severe enough to result in respiratory failure, a condition known as myasthenic crisis (MC). OBJECTIVE: This review discusses risk factors, diagnosis, management, and iatrogenic avoidance of MC. DISCUSSION: MC can affect any age, ethnicity, or sex and can be precipitated with any stressor, infection being the most common...
September 12, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#2
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28887062/diaphragm-dysfunction-in-critical-illness
#3
REVIEW
Gerald S Supinski, Peter E Morris, Sanjay Dhar, Leigh Ann Callahan
The diaphragm is the major muscle of inspiration and its function is critical for optimal respiration. Diaphragmatic failure has long been recognized as a major contributor to death in a variety of systemic neuromuscular disorders. More recently, it is increasingly apparent that diaphragm dysfunction is present in a high percentage of critically ill patients, and is associated with increased morbidity and mortality. In these patients, diaphragm weakness is thought to develop from disuse secondary to ventilator-induced diaphragm inactivity, and as a consequence of the effects of systemic inflammation, including sepsis...
September 5, 2017: Chest
https://www.readbyqxmd.com/read/28875277/-critical-illness-myopathy-and-polyneuropathy
#4
REVIEW
D Senger, F Erbguth
An average of 50-80% of patients treated in the intensive care unit is affected by disturbances of neuromuscular functions due to damage to the nerves and muscles, which has led to the terms critical illness polyneuropathy and myopathy. Both components occur in 30-50% of patients, while the others predominantly show a pure myopathy, while pure neuropathy is rare. Meanwhile, the descriptive term of the concept as intensive care unit-acquired weakness (ICUAW) is preferred. The most significant risk factors for the development of ICUAW are sepsis, multiorgan dysfunction and acute respiratory distress syndrome (ARDS)...
September 5, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28842446/a-natural-history-study-of-x-linked-myotubular-myopathy
#5
Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph Hornyak, Alan H Beggs, James J Dowling
OBJECTIVE: To define the natural history of X-linked myotubular myopathy (MTM). METHODS: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33). RESULTS: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86...
August 25, 2017: Neurology
https://www.readbyqxmd.com/read/28838325/a-study-on-the-safety-and-efficacy-of-reveglucosidase-alfa-in-patients-with-late-onset-pompe-disease
#6
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system...
August 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28834910/application-of-different-ventilator-modes-in-patients-with-amyotrophic-lateral-sclerosis-according-to-certain-clinical-situations-a-case-report
#7
Donghwi Park
RATIONALE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that involves limb, axial, bulbar, and respiratory muscles. Fatigue and weakness of the respiratory muscles eventually induce respiratory insufficiency, which is one of the main causes of death in patients with ALS. In ALS patients with respiratory insufficiency, application of a ventilator is indispensable. Although there are various modes of ventilation, these modes are classified roughly into volume-controlled ventilation (VCV) and pressure-controlled ventilation (PCV)...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28834052/incidence-of-obstructive-sleep-apnea-in-elderly-edentulous-patients-and-the-possible-correlation-of-serum-serotonin-and-apnea-hypopnea-index
#8
Arvind Tripathi, Soumyojeet Bagchi, Juhi Singh, Suryakant Tripathi, Narendra Kumar Gupta, Varun Arora
PURPOSE: To estimate the incidence of obstructive sleep apnea (OSA) in elderly edentulous patients (aged 60-65 years) and investigate a correlation of serum serotonin levels with the apnea-hypopnea index (AHI), respiratory effort-related arousal (RERA), and respiratory disturbance index (RDI). MATERIALS AND METHODS: 381 elderly completely edentulous patients (307 male, 74 female) aged 60 to 65 years with a history of edentulism of 12 to 15 months, seeking oral rehabilitation at the prosthodontic clinic at Saraswati Dental College & Hospital, Lucknow, India, between January 2014 and January 2016 were enrolled for the present study...
August 21, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#9
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#10
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28780390/a-12-year-experience-with-tracheostomy-for-neonates-and-infants-in-northern-taiwan-indications-hospital-courses-and-long-term-outcomes
#11
Chia-Huei Chen, Jui-Hsing Chang, Chyong-Hsin Hsu, Nan-Chang Chiu, Chun-Chin Peng, Wai-Tim Jim, Hung-Yang Chang, Kuo-Sheng Lee
BACKGROUND: Tracheostomy is a valuable procedure in infants and neonates with chronic respiratory failure or severe airway obstruction. The aim of this study is to identify the indication, hospital course, and long-term outcome in a cohort of infants who required tracheostomy in a neonatal and pediatric tertiary care center in northern Taiwan. METHODS: Medical records of infants, who underwent tracheostomy between January 2002 and December 2013, were retrospectively reviewed...
July 24, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28762753/migraine-in-mitochondrial-disorders-prevalence-and-characteristics
#12
Catello Vollono, Guido Primiano, Giacomo Della Marca, Anna Losurdo, Serenella Servidei
Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#13
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28702830/sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#14
REVIEW
Mohamad Ammar Albdewi, Giuseppe Liistro, Riëm El Tahry
Sleep-disordered breathing (SDB) is relatively common in general population as well as in patients with neuromuscular disease. SDB comprises a wide spectrum of disorders varying from simple snoring to complete closure of the upper airway as seen in obstructive sleep apnoea (OSA). It includes also other disorders like prolonged hypoxemia, hypoventilation, and central sleep apnoea (CSA). Neuromuscular diseases (NMD) form a group of disorders that can cause significant reduction in the quality and span of life...
July 12, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28694199/initiation-of-noninvasive-ventilation-for-sleep-related-hypoventilation-disorders-advanced-modes-and-devices
#15
REVIEW
Bernardo J Selim, Lisa Wolfe, John M Coleman, Naresh A Dewan
Although noninvasive ventilation (NIV) has been used since the 1950s in the polio epidemic, the development of modern bilevel positive airway pressure (BPAP) devices did not become a reality until the 1990s. Over the past 25 years, BPAP technology options have increased exponentially. The number of patients receiving this treatment both in the acute setting and at home is growing steadily. However, a knowledge gap exists in the way the settings on these devices are adjusted to achieve synchrony and match the patient's unique physiology of respiratory failure...
July 8, 2017: Chest
https://www.readbyqxmd.com/read/28662944/skeletal-muscle-channelopathies-rare-disorders-with-common-pediatric-symptoms
#16
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#17
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#18
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
#19
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
#20
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...
October 2017: Current Opinion in Neurology
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