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https://www.readbyqxmd.com/read/29790678/pediatric-pulmonology-year-in-review-2017-part-1
#1
William A Gower, David J Birnkrant, Jane B Black, Thomas Nicolai, Terry L Noah
Pediatric Pulmonology publishes original research, case reports and review articles on topics related to a wide range of children's respiratory disorders. In this article (Part 1 of a series), we summarize the past year's publications in our major topic areas, as well as selected literature in these areas from other journals. In Part 1, we review selected articles on diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases.
May 23, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#2
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29779596/muscular-dystrophies
#3
REVIEW
John C Carter, Daniel W Sheehan, Andre Prochoroff, David J Birnkrant
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779594/disorders-of-the-diaphragm
#4
REVIEW
F Dennis McCool, Kamran Manzoor, Taro Minami
Pathologic processes that involve the central nervous system, phrenic nerve, neuromuscular junction, and skeletal muscle can impair diaphragm function. When these processes are of sufficient severity to cause diaphragm dysfunction, respiratory failure may be a consequence. This article reviews basic diaphragm anatomy and physiology and then discusses diagnostic and therapeutic approaches to disorders that result in unilateral or bilateral diaphragm dysfunction. This discussion provides a context in which disorders of the diaphragm and their implications on respiratory function can be better appreciated...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779592/pulmonary-function-testing-in-neuromuscular-and-chest-wall-disorders
#5
REVIEW
Eric J Gartman
Neuromuscular and chest wall disorders frequently compromise pulmonary function, and thorough respiratory evaluation often can assist in diagnosis, risk assessment, and prognosis. Because many of these disorders can be progressive, serial assessments are necessary to best define a trajectory of impairment (or improvement with therapy). This article covers the major respiratory testing modalities available in the evaluation of these patients, emphasizing both the benefits and shortcomings of each approach. Most parameters are available in a standard pulmonary laboratory (flows, volumes, static pressures), although referral to a specialized center may be necessary to conclusively evaluate a given patient...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779591/sleep-disordered-breathing-in-neuromuscular-and-chest-wall-diseases
#6
REVIEW
Janet Hilbert
Neuromuscular and chest wall diseases include a diverse group of conditions that share common risk factors for sleep-disordered breathing, including respiratory muscle weakness and/or thoracic restriction. Sleep-disordered breathing results from both the effects of normal sleep on ventilation and the additional challenges imposed by the underlying disorders. Patterns of sleep- disordered breathing vary with the specific diagnosis and stage of disease. Sleep hypoventilation precedes diurnal respiratory failure and may be difficult to recognize clinically because symptoms are nonspecific...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29773292/health-related-quality-of-life-measurement-in-patients-with-chronic-respiratory-failure
#7
REVIEW
Toru Oga, Wolfram Windisch, Tomohiro Handa, Toyohiro Hirai, Kazuo Chin
The improvement of health-related quality of life (HRQL) is an important goal in managing patients with chronic respiratory failure (CRF) receiving long-term oxygen therapy (LTOT) and/or domiciliary noninvasive ventilation (NIV). Two condition-specific HRQL questionnaires have been developed to specifically assess these patients: the Maugeri Respiratory Failure Questionnaire (MRF) and the Severe Respiratory Insufficiency Questionnaire (SRI). The MRF is more advantageous in its ease of completion; conversely, the SRI measures diversified health impairments more multi-dimensionally and discriminatively with greater balance, especially in patients receiving NIV...
May 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29770120/multiparametric-analysis-of-sniff-nasal-inspiratory-pressure-test-in-middle-stage-amyotrophic-lateral-sclerosis
#8
Antonio Sarmento, Andrea Aliverti, Layana Marques, Francesca Pennati, Mario Emílio Dourado-Júnior, Guilherme Fregonezi, Vanessa Resqueti
The relaxation rates and contractile properties of inspiratory muscles are altered with inspiratory muscle weakness and fatigue. This fact plays an important role in neuromuscular disorders patients and had never been extensively studied in amyotrophic lateral sclerosis (ALS). In this cross-sectional study, these parameters were investigated non-invasively through nasal inspiratory sniff pressure test (SNIP) in 39 middle stage spinal onset ALS subjects and compared with 39 healthy controls. ALS patients were also divided into three subgroups according to a decline in their percentage of predicted forced vital capacity (FVC%pred ) as well as a decline in the ALS functional rating scale score and its respiratory subscore (R-subscore) in order to determine the best parameter linked to early respiratory muscle weakness...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29748118/diaphragmatic-dysfunction-as-the-presenting-symptom-in-neuromuscular-disorders-a-retrospective-longitudinal-study-of-etiology-and-outcome-in-30-german-patients
#9
Matthias Türk, Irina Weber, Gernot Vogt-Ladner, Rolf Schröder, Martin Winterholler
Diaphragmatic dysfunction is well-known in advanced stages of neuromuscular disorders. However, data on its presence as the presenting symptom in neuromuscular disorders is scarce. The goal of this retrospective longitudinal study was to evaluate the etiology and clinical outcome in patients, in whom uni- or bilateral diaphragmatic dysfunction was primarily diagnosed, before a specific neuromuscular disease was found. Patients with critical illness neuropathy/myopathy were excluded from this study. Analysis of the medical records of two tertiary referral centers for patients with neuromuscular diseases identified 30 corresponding patients with diaphragmatic dysfunction (17 unilateral; 13 bilateral)...
April 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29737781/epidemiology-and-prognoses-in-a-medical-intermediate-care-unit
#10
Mona Morland, Rolf Haagensen, Fredrik A Dahl, Jan-Erik Berdal
BACKGROUND: The purpose of medical intermediate care units is the observation and treatment of patients with incipient or manifest organ failure. We wished to obtain data on which conditions result in admission to these units and the prognosis for these patients. MATERIAL AND METHOD: All patients admitted to the medical intermediate care unit at Akershus University Hospital in 2014 were registered prospectively with reason for admission, period of hospitalisation, degree of severity, comorbidity, last place of hospitalisation prior to medical intermediate care and treatment limitations (do-not-resuscitate order and/or do-not-intubate order)...
May 8, 2018: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/29704686/a-novel-nkx3-2-mutation-associated-with-perinatal-lethal-phenotype-of-spondylo-megaepiphyseal-metaphyseal-dysplasia-in-a-neonate
#11
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, Rahsan Gocmen, Gulen Eda Utine, Tutku Soyer, Ayse Korkmaz-Toygar, Gen Nishimura, Mehmet Alikasifoglu, Koray Boduroglu
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck and trunk. SMMD is caused by inactivating mutations in NKX3-2, which encodes a homeobox-containing protein. Because of the rarity of the disorder, the diagnostic feature has not been fully established yet. We describe an affected newborn with dysmorphic facial features and severe short trunk. The patient required immediate intubation at the delivery room and duodenal atresia was detected during his course in neonatal intensive care unit...
April 25, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29701428/anaesthetic-management-in-a-duchennne-muscle-dystrophy-patient-for-treatment-of-recurrent-pneumothorax
#12
Sara Mota, Liuba Germanova, Joana Cortesão, Teresa Paiva
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an x linked recessive disorder. Long term prognosis is ominous, with development of respiratory distress and cardiomyopathy in advanced stage of the disease and expected death in the teens-to-mid 20s due to respiratory or cardiac failure. Peri-operative management of this patients is challenging due to difficult airway anatomy (macroglossia, limited neck and mandibular mobility). Additionally, they are at risk of developing malignant hyperthermia, rhabdomyolysis and hyperkalemic cardiac arrest when exposed to halogenated inhalational anaesthetics and depolarizing muscle relaxants...
July 2017: Revista Portuguesa de Cirurgia Cardio-torácica e Vascular
https://www.readbyqxmd.com/read/29655448/generalized-myasthenia-gravis-classification-clinical-presentation-natural-history-and-epidemiology
#13
REVIEW
Michael K Hehir, Nicholas J Silvestri
Myasthenia gravis (MG) is a rare disease, but the most common disorder of the neuromuscular junction. It is the prototypic autoimmune disease most commonly caused by antibodies to the acetylcholine receptor (AChR) leading to characteristic fatigable weakness of the ocular, bulbar, respiratory, axial, and limb muscles. The majority of patients with MG first present with ocular symptoms. Most patients with MG will experience at least 1 exacerbation of symptoms throughout the course of their illness. This article will cover the epidemiology, clinical presentation, classification, and natural history of MG...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29555378/-an-update-on-myasthenia-gravis
#14
S Martínez Torre, I Gómez Molinero, R Martínez Girón
Myasthenia gravis is one of the most common disorders that affect neuromuscular transmission. It is currently one of the most understood and characterised autoimmune disorders Its typical symptoms are fluctuating weakness and fatigue that affects a combination of ocular muscles, bulbar functions, as well as limb and respiratory muscles, which are due to an immune attack against the postsynaptic membrane of the neuromuscular junction. The diagnosis of myasthenia gravis is based on clinical and serological test...
March 16, 2018: Semergen
https://www.readbyqxmd.com/read/29543311/unusual-case-of-central-alveolar-hypoventilation
#15
Hadil Ak AlOtair, Abdulaziz H Alzeer, Mohammed A Abdou, Shaden O Qasrawi
Central alveolar hypoventilation is rarely encountered. This case report describes a young woman who was recently diagnosed with hypertension and ischemic heart disease. She presented to the emergency room with hypercapnic respiratory failure, for which she was mechanically ventilated. This was preceded by an acute upper respiratory tract infection. She was initially suspected to have Guillain-Barré syndrome, but further investigations ruled out neuromuscular or autoimmune disorders. Sleep-related hypoventilation was suspected after she experienced recurrent apneas at night that resulted in re-intubation...
March 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29484287/long-term-non-invasive-ventilation-in-infants-a-systematic-review-and-meta-analysis
#16
Prabhjot K Bedi, Maria Luisa Castro-Codesal, Robin Featherstone, Mohammed M AlBalawi, Bashar Alkhaledi, Anita L Kozyrskyj, Carlos Flores-Mir, Joanna E MacLean
Background: The use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data exist about its use in infants. Given that infants have distinct sleep and breathing patterns when compared to older children, the outcomes of infants on long-term NIV may differ as well. The aim of this study is to systematically review the use and outcomes of long-term NIV in infants. Methods: Ovid Medline, Ovid Embase, CINAHL (via EbscoHOST), PubMed, and Wiley Cochrane Library were systematically searched from January 1990 to July 2017...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29477801/the-assessment-of-sniff-nasal-inspiratory-pressure-in-patients-with-duchenne-muscular-dystrophy-in-china
#17
Shu Zhang, Qian-Qian Mei, Jing Xin, Hong-Ying Zhang, Shi-Wen Wu, Chun-Feng Liu
OBJECTIVE: Progressive weakness of respiratory muscles remains one of the leading causes of death among patients with Duchenne muscular dystrophy (DMD). Currently, there are few pulmonary function data among Chinese DMD patients. This study was carried out to evaluate the sniff nasal inspiratory pressure (SNIP) change among a group of Chinese DMD patients, and compare it with the SNIP value of patients with neuromuscular disorders in other countries. METHODS: SNIP data were collected in three research groups that consists of 581 subjects: 125 DMD boys who have taken steroid (Age 5...
May 2018: Brain & Development
https://www.readbyqxmd.com/read/29445539/the-clinical-usefulness-of-a-self-administered-questionnaire-for-sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#18
Cathy Zhang, Michelle Ramsay, Panagis Drakatos, Joerg Steier
Background: Patients with neuromuscular disease (NMD) are at risk of developing sleep-disordered breathing (SDB) with hypercapnic respiratory failure. We hypothesised that a self-administered questionnaire (SiNQ-5 scores) may be useful to assess patients who are established on treatment for NMD with SDB. Methods: Patients attending a tertiary referral centre filled in the SiNQ-5 (range 0-10 points, lower scores indicating fewer symptoms). The questionnaire contains five questions related to breathlessness, sleep and posture...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29395673/228th-enmc-international-workshop-airway-clearance-techniques-in-neuromuscular-disorders-naarden-the-netherlands-3-5-march-2017
#19
Michel Toussaint, Michelle Chatwin, Jesus Gonzales, David J Berlowitz
No abstract text is available yet for this article.
March 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29384276/-long-term-non-invasive-ventilation-in-chronic-obstructive-pulmonary-disease-patients
#20
Léonore Schopfer, Lena Groenendijk, Jean-Paul Janssens, Alain Bigin Younossian, Laurence Vignaux
Non-invasive ventilation (NIV) is recognized as first line therapy in acute hypercapnic respiratory failure and chronic alveolar hypoventilation caused by several diseases (restrictive thoracic disorders, neuromuscular disease and obesity-hypoventilation syndrome). In Switzerland and other European countries, long-term NIV has also been applied in hypercapnic patients with chronic obstructive pulmonary disease (COPD). However, only recently has conclusive evidence showing benefits of long-term NIV become available...
January 31, 2018: Revue Médicale Suisse
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