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Neuromuscular diseases

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https://www.readbyqxmd.com/read/27922506/coding-in-muscle-disease
#1
Lyell K Jones, John P Ney
Accurate coding is critically important for clinical practice and research. Ongoing changes to diagnostic and billing codes require the clinician to stay abreast of coding updates. Payment for health care services, data sets for health services research, and reporting for medical quality improvement all require accurate administrative coding. This article provides an overview of administrative coding for patients with muscle disease and includes a case-based review of diagnostic and Evaluation and Management (E/M) coding principles in patients with myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922505/registry-participation-in-neuromuscular-disease
#2
Anant M Shenoy
Patient registries are a resource to better study neurologic disease and may facilitate the development of future treatments. Clinicians should become comfortable with the strengths and limitations of patient registries and be able to discuss them with their patients. This article discusses the use of patient registries through the example of registries for patients with neuromuscular disease.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#3
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922497/autoimmune-myopathies
#4
Andrew L Mammen
PURPOSE OF REVIEW: This article provides guidelines for diagnosing and treating the different subtypes of autoimmune myopathies. RECENT FINDINGS: The most common subtypes of autoimmune myopathies are dermatomyositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and overlap syndromes; isolated polymyositis is an exceptionally rare disease. Specific autoantibodies are associated with unique clinical phenotypes and may be used for diagnostic and prognostic purposes, such as to assess the risk of coexisting malignancy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27920424/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#5
Valentina Cappello, Laura Marchetti, Paola Parlanti, Silvia Landi, Ilaria Tonazzini, Marco Cecchini, Vincenzo Piazza, Mauro Gemmi
Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells. Despite the wide use of Twitcher mice as experimental model for KD, the ultrastructure of this model is partial and mainly addressing peripheral nerves. More details are requested to elucidate the basis of the motor defects, which are the first to appear during KD onset. Here we use transmission electron microscopy (TEM) to focus on the alterations produced by KD in the lower motor system at postnatal day 15 (P15), a nearly asymptomatic stage, and in the juvenile P30 mouse...
December 2016: Scientific Reports
https://www.readbyqxmd.com/read/27920092/definition-discrimination-diagnosis-and-treatment-of-central-breathing-disturbances-during-sleep
#6
Winfried Randerath, Johan Verbraecken, Stefan Andreas, Michael Arzt, Konrad E Bloch, Thomas Brack, Bertien Buyse, Wilfried De Backer, Danny Joel Eckert, Ludger Grote, Lars Hagmeyer, Jan Hedner, Poul Jennum, Maria Teresa La Rovere, Carla Miltz, Walter T McNicholas, Josep Montserrat, Matthew Naughton, Jean-Louis Pepin, Dirk Pevernagie, Bernd Sanner, Dries Testelmans, Thomy Tonia, Bart Vrijsen, Peter Wijkstra, Patrick Levy
The complexity of central breathing disturbances during sleep has become increasingly obvious. They present as central sleep apnoeas (CSAs) and hypopnoeas, periodic breathing with apnoeas, or irregular breathing in patients with cardiovascular, other internal or neurological disorders, and can emerge under positive airway pressure treatment or opioid use, or at high altitude. As yet, there is insufficient knowledge on the clinical features, pathophysiological background and consecutive algorithms for stepped-care treatment...
December 5, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27919609/randomised-controlled-trial-potential-benefit-of-a-footplate-neuromuscular-electrical-stimulation-device-in-patients-with-chronic-venous-disease
#7
R Ravikumar, K J Williams, A Babber, T R A Lane, H M Moore, A H Davies
OBJECTIVES: Chronic venous disease (CVD) is common, affecting a quarter of the population. Current conservative methods of treatment aim to prevent progression of disease by reducing ambulatory venous pressure. Neuromuscular electrical stimulation (NMES) refers to the use of electrical impulses to elicit muscle contraction. This pilot randomised controlled trial investigates the effect of a footplate NMES device (REVITIVE) on venous flow parameters, limb oedema, and quality of life outcome measures in patients with CVD...
December 2, 2016: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/27919548/cognitive-decline-over-time-in-adults-with-myotonic-dystrophy-type-1-a-9-year-longitudinal-study
#8
Benjamin Gallais, Cynthia Gagnon, Jean Mathieu, Louis Richer
Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease with multisystemic involvement including the central nervous system. The evolution of the cognitive profile is a matter of debate, whether an eventual decline could be global or process-specific. Study aims are to describe, compare and document the clinical relevance of the progression of cognitive abilities in DM1 patients with adult and late-onset phenotypes. A total of 115 DM1 patients (90 adult; 25 late-onset) were assessed twice within a 9-year period on cognitive abilities (language, memory, visual attention, processing speed, visuoconstructive abilities and executive functions) and intellectual functioning (WAIS-R 7)...
October 14, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27916344/advance-care-discussions-with-young-people-affected-by-life-limiting-neuromuscular-diseases-a-systematic-literature-review-and-narrative-synthesis
#9
Andy Hiscock, Isla Kuhn, Stephen Barclay
End of life care policy in the UK advocates open discussions between health professionals and patients as the end of life approaches. Despite well documented understanding of the progression of life-limiting neuromuscular diseases, the majority of patients affected by such conditions die without a formal end of life plan in place. We performed a systematic review to investigate conversations regarding end of life care between healthcare professionals and younger adult patients with life-limiting neuromuscular diseases...
November 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27912998/electrodiagnosis-in-cancer-rehabilitation
#10
REVIEW
Christian M Custodio
With numerous advancements in early detection and multimodal therapy, cancer has become a chronic disease. As the number of cancer survivors continues to increase, physiatrists and other neuromuscular disease specialists are more likely to encounter individuals with residual impairments, disabilities, and/or handicaps resulting from cancer or related treatments. The patient with cancer is especially prone to injury directed at the peripheral nervous system at multiple anatomic levels. Electrodiagnosis is an invaluable tool in the evaluation of neuromuscular disorders in this patient population...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#11
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911334/matrix-metalloproteinases-and-tissue-inhibitor-of-metalloproteinases-in%C3%A2-inflammation-and-fibrosis-of-skeletal-muscles
#12
Hala S Alameddine, Jennifer E Morgan
In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including neuromuscular diseases. This has opened perspectives for the use of MMPs' overexpression to improve the efficiency of cell therapy in muscular dystrophies and resolve fibrosis. Alternatively, inhibition of individual MMPs in animal models of muscular dystrophies has provided evidence of beneficial, dual or adverse effects on muscle morphology or function...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27906462/histopathological-evaluation-of-skeletal-muscle-with-specific-reference-to-mouse-models-of-muscular-dystrophy
#13
Rebecca L Terry, Dominic J Wells
The muscular dystrophies are a diverse group of degenerative diseases for which many mouse models are available. These models are frequently used to assess potential therapeutic interventions and histological evaluation of multiple muscles is an important part of this assessment. Histological evaluation is especially useful when combined with tests of muscle function. This unit describes a protocol for necropsy, processing, cryosectioning, and histopathological evaluation of murine skeletal muscles, which is applicable to both models of muscular dystrophy and other neuromuscular conditions...
December 1, 2016: Current Protocols in Mouse Biology
https://www.readbyqxmd.com/read/27906081/vacht-overexpression-increases-acetylcholine-at-the-synaptic-cleft-and-accelerates-aging-of-neuromuscular-junctions
#14
Satoshi Sugita, Leland L Fleming, Caleb Wood, Sydney K Vaughan, Matheus P S M Gomes, Wallace Camargo, Ligia A Naves, Vania F Prado, Marco A M Prado, Cristina Guatimosim, Gregorio Valdez
BACKGROUND: Cholinergic dysfunction occurs during aging and in a variety of diseases, including amyotrophic lateral sclerosis (ALS). However, it remains unknown whether changes in cholinergic transmission contributes to age- and disease-related degeneration of the motor system. Here we investigated the effect of moderately increasing levels of synaptic acetylcholine (ACh) on the neuromuscular junction (NMJ), muscle fibers, and motor neurons during development and aging and in a mouse model for amyotrophic lateral sclerosis (ALS)...
October 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27901257/brazilian-portuguese-translation-cross-cultural-adaptation-and-validation-of-the-myasthenia-gravis-composite-scale-a-multicentric-study
#15
Ezequiel Fernandes Oliveira, Valéria Cavalcante Lima, Eduardo Araujo Perez, Melissa Nunes Polaro, Berenice Cataldo Oliveira Valério, João R Pereiro, Sergio Roberto Nacif, Claudia Santos Oliveira, Acary Souza Bulle Oliveira, Luis Vicente Franco Oliveira
Objective: To perform the translation, cultural adaptation and validation of the Myasthenia Gravis Composite (MGC) scale in Brazil. Methods: The study was conducted at three neuromuscular disease research centers in accordance with the international ethical standards, following a multi-modal approach and was conducted in three steps consisting of translation, cultural adaptation, and validation according to international guidelines. The final version of the MGC was applied in a sample of 27 MG patients and the total score was compared to a Portuguese version of the MG-QOL-15...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#16
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27899532/long-term-management-for-ventilator-assisted-children-in-hong-kong-2-decades-experience
#17
Shuk-Kuen Chau, Ada Wing-Yan Yung, So-Lun Lee
BACKGROUND: The population of children receiving long-term mechanical ventilation is growing worldwide, but only limited data exist in Asian regions. The objective of the study was to review the management of these children in Hong Kong over the past 2 decades. METHODS: This was a retrospective cohort study. Hospital records from subjects receiving mechanical ventilation for >3 months were retrieved. Demographic characteristics and medical information of subjects (≤21 y old) under the care of the ventilator program at the Duchess of Kent Children's Hospital between 1997 and 2015 were reviewed...
November 29, 2016: Respiratory Care
https://www.readbyqxmd.com/read/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#18
Claire Allen, Russell Perkins, Bernd Schwahn
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetically determined disorder of mitochondrial fatty acid oxidation. Decompensation can result in hypoglycemia, seizures, coma, and death but may be prevented by ensuring glycogen stores do not become depleted. Perioperative care is of interest as surgery, fasting, and infection may all trigger decompensation and the safety of anesthetic agents has been questioned. Current guidelines from the British Inherited Metabolic Disease Group advise on administering fluid containing 10% glucose during the perioperative period...
November 29, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27893480/high-speed-resistance-training-modifies-load-velocity-and-load-power-relationships-in-parkinson-s-disease
#19
Meng Ni, Joseph F Signorile
Muscle power is a major neuromuscular factor affecting motor function and independence in patients with Parkinson's disease; and it is commonly targeted using high-speed exercise. This study examined the changes in velocities (Vpp) and percent loads (%1RMpp) at peak power, as well as load-velocity (L-V) and load-power (L-P) relationships, resulting from resistance training due to exercise choice and loading in older Parkinson's patients. Fourteen older adults with mild to moderate Parkinson's disease participated in a 12-week randomized controlled power training trial...
November 16, 2016: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/27893014/durability-of-the-rituximab-response-in-acetylcholine-receptor-autoantibody-positive-myasthenia-gravis
#20
Kimberly R Robeson, Aditya Kumar, Benison Keung, Daniel B DiCapua, Emily Grodinsky, Huned S Patwa, Panos A Stathopoulos, Jonathan M Goldstein, Kevin C O'Connor, Richard J Nowak
Importance: Myasthenia gravis (MG), an autoimmune disorder of neuromuscular transmission, is treated by an array of immunotherapeutics, many of which are nonspecific. Even with current therapies, a subset of patients has medically refractory MG. The benefits of B-cell-targeted therapy with rituximab have been observed in MG; however, the duration of these benefits after treatment is unclear. Objective: To evaluate the durability of response to rituximab in the treatment of acetylcholine receptor autoantibody-positive (AChR+) generalized MG...
November 21, 2016: JAMA Neurology
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