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https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#1
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/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#2
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
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/29778398/antipsychotic-induced-disorders-reported-cases-and-prospective-study-on-muscle-biomarkers-after-high-exposure-to-haloperidol
#7
Abderrezak Khelfi, Mohammed Azzouz, Rania Abtroun, Mohammed Reggabi, Berkahoum Alamir
Antipsychotic drugs are known to induce neuromuscular effects. In this study, we review 13 years (2002-2014) of antipsychotic intoxications reported by the anti-poisoning center of Algiers (APCA). The most recorded symptoms were neuromuscular/muscular disorders, of which haloperidol was the most inducer among all antipsychotics. A prospective study was conducted between December 2012 and January 2017 to evaluate muscle effects generated after intentional or accidental ingestion of haloperidol. Fifty-one patients admitted in different emergency departments in Algiers were included in this study...
May 17, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29778308/meeting-report-of-the-regulatory-exchange-matters-session-at-the-5th-international-treat-nmd-conference-lessons-in-communication-how-an-early-dialogue-between-patients-regulators-and-academics-can-further-therapy-development-for-neuromuscular-disorders-freiburg
#8
https://www.readbyqxmd.com/read/29775120/successful-improvement-of-pain-symptomatology-in-a-suspected-case-of-cramp-fasciculation-syndrome-via-interventional-pain-treatment
#9
Anita Gupta, Lucas First, Celeste A Swain
Peripheral nerve hyperexcitability (PNH) syndromes are a rare set of neuromuscular disorders that include cramp-fasciculation syndrome (CFS) and Isaacs syndrome (IS). Successful treatment of these diseases has been achieved with antiepileptic medications; however, chronic pain symptoms can persist. We provide a case report of a 25-year-old female who has suffered from painful severe muscle spasms and fasciculations since childhood. With CFS as our working diagnosis, a treatment regimen using interventional pain techniques, including sympathetic chain blocks, ketamine infusions, and trigger point injections, resulted in a significant decrease in the patient's chronic pain symptoms...
May 18, 2018: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/29773292/health-related-quality-of-life-measurement-in-patients-with-chronic-respiratory-failure
#10
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
#11
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/29764215/myotonic-dystrophytype-1-report-of-non-24-h-sleep-wake-disorder-with-excessive-daytime-sleepiness
#12
Lucio Huebra Pimentel Filho, Ana Carolina Dias Gomes, Bruno Gonçalves, Sergio Tufik, Fernando Morgadinho Coelho
Myotonic dystrophy (MD) is a neuromuscular disease with myotonia, progressive weakness, and involvement of CNS, heart, and gastrointestinal system. Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (MD1) is related to sleep breathing diseases, restless leg syndrome, periodic limb movements during sleep and narcoleptic-like phenotype. However, authors highlight a central dysfunction of sleep regulation. We describe a 26-year-old, female, MD1 patient with EDS. Sleep diary/actigraphy evidenced two different circadian periods with values of 1442 and 1522 min...
May 15, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29759488/neuromuscular-disorders-and-the-role-of-the-clinical-electrophysiologist
#13
REVIEW
Haisam Ismail, Elizabeth Raynor, Peter Zimetbaum
Cardiac involvement is common and may be the presenting or predominant manifestation in a variety of neuromuscular disorders, most notably the inherited muscle disorders, or muscular dystrophies. Cardiac manifestations of the neuromuscular disorders result from pathological involvement of the myocardium and the cardiac conduction system, with resulting cardiomyopathy or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death. Many of these neuromuscular disorders are rare and may be unrecognized by even experienced specialists in internal and cardiovascular medicine...
October 2017: JACC. Clinical Electrophysiology
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
#14
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/29740555/a-comparative-study-on-the-recruitment-of-shoulder-stabilizing-muscles-and-types-of-exercises
#15
João Carlos Comel, Rosane Maria Nery, Eduardo Lima Garcia, Claudete da Silva Bueno, Edinara de Oliveira Silveira, Mariéle Marchezan Zarantonello, Marco Antonio Stefani
The shoulder is susceptible to disturbances caused by microtraumas due to direct contact of the surrounding skeletal structures or failure of the soft parts of the rotator cuff and other muscles inserted into the glenohumeral joint. The purpose of the study was to compare the electromyographic signal in the stabilizing muscles of the shoulder during the diagonal elevation exercise as recommended by the proprioceptive neuromuscular facilitation (PNF) method and dumbbell exercise. This study is classified as Quase-experiment...
April 2018: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/29737781/epidemiology-and-prognoses-in-a-medical-intermediate-care-unit
#16
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/29737378/trunk-head-and-pelvis-interactions-in-healthy-children-when-performing-seated-daily-arm-tasks
#17
L H C Peeters, I Kingma, G S Faber, J H van Dieën, I J M de Groot
Development of trunk and head supportive devices for children with neuromuscular disorders requires detailed information about pelvis, trunk and head movement in interaction with upper extremity movement, as these are crucial for daily activities when seated in a wheelchair. Twenty-five healthy subjects (6-20 years old) were included to obtain insight in the physiological interactions between these segments and to assess maturation effects. Subjects performed a maximum range of trunk and head movement tasks and several daily tasks, including forward and lateral reaching...
May 8, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29735415/interventions-targeting-glucocorticoid-kr%C3%A3-ppel-like-factor-15-branched-chain-amino-acid-signaling-improve-disease-phenotypes-in-spinal-muscular-atrophy-mice
#18
Lisa M Walter, Marc-Olivier Deguise, Katharina E Meijboom, Corinne A Betts, Nina Ahlskog, Tirsa L E van Westering, Gareth Hazell, Emily McFall, Anna Kordala, Suzan M Hammond, Frank Abendroth, Lyndsay M Murray, Hannah K Shorrock, Domenick A Prosdocimo, Saptarsi M Haldar, Mukesh K Jain, Thomas H Gillingwater, Peter Claus, Rashmi Kothary, Matthew J A Wood, Melissa Bowerman
The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide-reaching effects on metabolic homeostasis. Spinal muscular atrophy (SMA) is a neuromuscular disorder also characterized by intrinsic muscle pathologies, metabolic abnormalities and disrupted sleep patterns, which can influence or be influenced by circadian regulatory networks that control behavioral and metabolic rhythms. We therefore set out to investigate the contribution of the GC-KLF15-BCAA pathway in SMA pathophysiology of Taiwanese Smn-/- ;SMN2 and Smn2B/- mouse models...
May 4, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29735374/clinical-and-molecular-spectrum-of-thymidine-kinase-2-related-mtdna-maintenance-defect
#19
Julia Wang, Emily Kim, Honzheng Dai, Vikki Stefans, Hannes Vogel, Fatma Al Jasmi, Samantha A Schrier Vergano, Diana Castro, Saunder Bernes, Vikas Bhambhani, Catherine Long, Ayman W El-Hattab, Lee-Jun Wong
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants...
April 28, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29731661/electrophysiologic-alterations-in-the-excitability-of-the-sciatic-and-vagus-nerves-during-early-stages-of-sepsis
#20
Lúcio Ricardo Leite Diniz, Viviane Gomes Portella, Kerly Shamira da Silva Alves, Pâmella Cristina da Costa Araújo, Ricardo Luiz Cavalcanti de Albuquerque Júnior, Aline Alice Cavalcante de Albuquerque, Andrelina Noronha Coelho-de-Souza, José Henrique Leal-Cardoso
Background: Nonspecific and delayed diagnosis of neurologic damage contributes to the development of neuropathies in patients with severe sepsis. The present study assessed the electrophysiologic parameters related to the excitability and conductibility of sciatic and vagus nerves during early stages of sepsis. Materials and methods: Twenty-four hours after sepsis induced by cecal ligation and puncture (CLP) model, sciatic and vagus nerves of septic (CLP group) and control (sham group) rats were removed, and selected electric stimulations were applied to measure the parameters of the first and second components of the compound action potential...
2018: Journal of Pain Research
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