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Neuromuscular weakness

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https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#1
Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, Cyrille Vaillend, Christian Leumann, Luis Garcia, Aurélie Goyenvalle
Antisense oligonucleotides (AONs) hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#2
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
#3
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/28895049/mutation-in-gne-downregulates-peroxiredoxin-iv-altering-er-redox-homeostasis
#4
Pratibha Chanana, Gayatri Padhy, Kalpana Bhargava, Ranjana Arya
GNE myopathy is a rare neuromuscular genetic disorder characterized by early adult onset and muscle weakness due to mutation in sialic acid biosynthetic enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). More than 180 different GNE mutations are known all over the world with unclear pathomechanism. Although hyposialylation of glycoproteins is speculated to be the major cause, but cellular mechanism leading to loss of muscle mass has not yet been deciphered. Besides sialic acid biosynthesis, GNE affects other cellular functions such as cell adhesion and apoptosis...
September 11, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#5
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28889846/acupuncture-for-management-of-type-2-diabetes-mellitus-in-a-patient-with-myasthenia-gravis-a-case-report
#6
Yun Jin Kim
Myasthenia gravis (MG) is an acquired disease of the neuromuscular junctions characterized by muscular weakness and fatigue, with a prevalence of 50-125 cases per million population in western countries. In men, it usually appears after the age of 60 years, while in women, it usually appears before the age of 40 years. Long-term immunosuppression with corticosteroids is the mainstay treatment for patients with MG; however, the use of corticosteroids is a well-documented risk factor for type 2 diabetes mellitus, which has also been reported in steroid-treated patients with MG...
August 2017: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/28887062/diaphragm-dysfunction-in-critical-illness
#7
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/28885479/high-dose-subcutaneous-immunoglobulin-in-patients-with-multifocal-motor-neuropathy-a-nursing-perspective
#8
Vilija M Rasutis, Hans D Katzberg, Vera Bril
Multifocal motor neuropathy (MMN), an immune neuromuscular condition causing progressive weakness, usually responds to immune-mediated treatments, including intravenous immunoglobulin (IVIG). Fifteen patients with MMN receiving IVIG were enrolled in an open-label, single-center trial and switched to 20% subcutaneous immunoglobulin (SCIG) using a smooth transition protocol (ie, changing the therapy without interruption or impact on the intended outcome of the therapy). Patients received individualized training and support based on motivation and ability to learn, follow directions, and maintain compliance...
September 2017: Journal of Infusion Nursing: the Official Publication of the Infusion Nurses Society
https://www.readbyqxmd.com/read/28884620/nusinersen-for-the-treatment-of-spinal-muscular-atrophy
#9
Claudia A Chiriboga
Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness. This review article focuses on a novel antisense oligonucleotide treatment, first ever approved for SMA (nusinersen, Spinraza(TM)) and describes the exciting journey from early ASO clinical trials to regulatory approval of the first ever known effective treatment for SMA. Areas covered: This article reviews the results of the published open label nusinersen studies in infants and children, and briefly covers the preliminary findings of the recently completed but as yet unpublished nusinersen-sham controlled trials, as well as the presymptomatic nusinersen trial known as Nurture...
September 8, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28882932/hickam-s-dictum-myasthenia-gravis-presenting-concurrently-with-graves-disease
#10
Shekhar Sehgal, Roshan Rebello, Louise Wolmarans, Marianne Elston
We present two patients with Graves' disease and concurrent myasthenia gravis. The impact of the dual diagnosis on the clinical course and the potential for a delayed diagnosis of myasthenia gravis is discussed. Patient 1, a 28-year-old man was diagnosed with Graves' disease following his second respiratory arrest. His history was strongly suggestive of a second pathology. Patient 2, a 66-year-old Cantonese woman with established Graves' disease presented with thionamide-related neutropaenia. Examination revealed bilateral ptosis and right lateral rectus palsy...
September 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28877087/percutaneous-endoscopic-gastrostomy-under-conscious-sedation-in-patients-with-amyotrophic-lateral-sclerosis-is-safe-an-observational-study
#11
Denise Strijbos, José Hofstede, Daniel Keszthelyi, Ad A M Masclee, Lennard P L Gilissen
OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease that causes muscle weakness with respiratory and swallowing dysfunction, eventually leading to death. Permanent enteral feeding is indicated in almost all patients. A percutaneous endoscopic gastrostomy (PEG) tube is considered the first choice, usually performed under conscious sedation (intravenous midazolam). Guidelines are very cautious with respect to sedation in ALS because of the risk for respiratory complications...
September 4, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28875277/-critical-illness-myopathy-and-polyneuropathy
#12
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/28874182/long-term-neurologic-and-cardiac-correction-by-intrathecal-gene-therapy-in-pompe-disease
#13
J Hordeaux, L Dubreil, C Robveille, J Deniaud, Q Pascal, B Dequéant, J Pailloux, L Lagalice, M Ledevin, C Babarit, P Costiou, F Jamme, M Fusellier, Y Mallem, C Ciron, C Huchet, C Caillaud, M-A Colle
Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28874083/azathioprine-induced-pancytopenia-and-septic-complications-a-probable-cause-of-death
#14
Bijoy K Panda, Siddhi Umarje, Arundhati Diwan
Azathioprine, an immunosuppressant which is widely used in the management of the autoimmune neuromuscular disorder. Myasthenia gravis is known to cause myelotoxicity. A 55-year-old male recently diagnosed with myasthenia gravis and chronic kidney disease was put on azathioprine (100 mg/d) along with pyridostigmine and prednisolone. When the treatment was initiated, the hematological reports revealed normal levels of blood count. However, approximately within 3 weeks of continuing the prescribed drugs, the patient was readmitted for complaints of loose watery stools, weakness, and giddiness...
January 1, 2017: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/28869483/obinutuzumab-plus-chlorambucil-in-a-patient-with-severe-myasthenia-gravis-and-chronic-lymphocytic-leukemia
#15
Angela Russell, Megan Yaraskavitch, Daniel Fok, Sameer Chhibber, Lesley Street, Lawrence Korngut
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, characterized by fatigable weakness of the extraocular, bulbar, and limb musculature; prevalence is estimated at 14 to 32 per 100,000 in North America. Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in adults, resulting from clonal expansion of B-cells in blood, marrow, and secondary lymphoid tissues. The simultaneous presentation of MG and CLL is exceedingly rare. This article presents the case of 71-year-old man diagnosed simultaneously with MG and CLL...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28864117/mrc-centre-neuromuscular-biobank-newcastle-and-london-supporting-and-facilitating-rare-and-neuromuscular-disease-research-worldwide
#16
Mojgan Reza, Daniel Cox, Lauren Phillips, Diana Johnson, Vaishnavi Manoharan, Michael Grieves, Becky Davis, Andreas Roos, Jennifer Morgan, Michael G Hanna, Francesco Muntoni, Hanns Lochmüller
Neuromuscular diseases are both genetic and acquired conditions resulting in progressive muscle weakness and wasting which lead to disability and reduced survival. The availability of high-quality human biomaterial is crucial to support biomedical research with potential applications at all stages of development, from molecular pathophysiology to drug discovery, clinical trials and evaluation of biomarkers. Although significant progress has been made over the last few years in the diagnosis of these rare conditions, the genetic defect and underlying pathological abnormality remain unknown in approximately 1/3 of cases...
July 10, 2017: Neuromuscular Disorders: NMD
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
#17
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/28834856/review-of-continuous-infusion-neuromuscular-blocking-agents-in-the-adult-intensive-care-unit
#18
Keaton S Smetana, Neil A Roe, Bruce A Doepker, G Morgan Jones
The use of continuous infusion neuromuscular blocking agents remains controversial. The clinical benefit of these medications may be overshadowed by concerns of propagating intensive care unit-acquired weakness, which may prolong mechanical ventilation and impair the inability to assess neurologic function or pain. Despite these risks, the use of neuromuscular blocking agents in the intensive care unit is indicated in numerous clinical situations. Understanding pharmacologic nuances and clinical roles of these agents will aid in facilitating safe use in a variety of acute disease processes...
October 2017: Critical Care Nursing Quarterly
https://www.readbyqxmd.com/read/28830630/false-positive-immunoassay-for-acetyl-choline-receptor-antibody-achr-ab-in-patients-exposed-to-polyvalent-antisnake-venom
#19
Kaushik Sundar, Shankar Venkatasubramanian, Sundar Shanmugam, Preetam Arthur, Ramakrishnan Subbaraya, Philo Hazeena
Acute flaccid paralysis is a neuromuscular emergency characterized by rapidly worsening weakness that evolves quickly to cause diaphragmatic failure. The challenge for the treating physician is to stabilize the patient, generate the differential diagnosis and determine the management; all in quick time. Neurotoxic snake bites have inadequate signs of inflammation and are easily missed. Myasthenic crisis, on the other hand, could be the first sign of myasthenia gravis in up to 20% of patients. Both present with acute respiratory failure and inadequate history...
August 18, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28828366/sedation-and-neuromuscular-blocking-agents-in-acute-respiratory-distress-syndrome
#20
REVIEW
Jeremy Bourenne, Sami Hraiech, Antoine Roch, Marc Gainnier, Laurent Papazian, Jean-Marie Forel
Mechanical ventilation (MV) is the cornerstone of acute respiratory distress syndrome (ARDS) management. The use of protective ventilation is a priority in this acute phase of lung inflammation. Neuromuscular blocking agents (NMBAs) induce reversible muscle paralysis. Their use in patients with ARDS remains controversial but occurs frequently. NMBAs are used in 25-45% of ARDS patients for a mean period of 1±2 days. The main indications of NMBAs are hypoxemia and facilitation of MV. For ethical reasons, NMBA use is inseparable from sedation in the management of early ARDS...
July 2017: Annals of Translational Medicine
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