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https://www.readbyqxmd.com/read/27914422/modeling-of-oropharyngeal-articulatory-adaptation-to-compensate-for-the-acoustic-effects-of-nasalization
#1
Panying Rong, David P Kuehn, Ryan K Shosted
Hypernasality is one of the most detrimental speech disturbances that lead to declines of speech intelligibility. Velopharyngeal inadequacy, which is associated with anatomic defects such as cleft palate or neuromuscular disorders that affect velopharygneal function, is the primary cause of hypernasality. A simulation study by Rong and Kuehn [J. Speech Lang. Hear. Res. 55(5), 1438-1448 (2012)] demonstrated that properly adjusted oropharyngeal articulation can reduce nasality for vowels synthesized with an articulatory model [Mermelstein, J...
September 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27912998/electrodiagnosis-in-cancer-rehabilitation
#2
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
#3
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/27907952/neurology-of-critical-care
#4
Eelco F M Wijdicks
It is a truism that care of the patient with an acutely severe neurologic illness starts with a full neurologic examination. Neurologic examination is followed by tests (neuroimaging and laboratory) resulting in a diagnosis (presumptive or definitive) and treatment (definitive or preemptive) and followed by admission for supportive care and more treatment. The sequence of decisions depends on the diagnosis, but treatment may be needed to diagnose a neurologic disorder. To find out what underlies the acute presentation of certain neurologic conditions requires (1) interpretation of neurologic findings, (2) interpretation of neuroimaging, (3) linking laboratory abnormalities to certain clinical neurologic findings, and (4) evaluation of improvement or refractoriness after treatment...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27905901/presynaptic-neuromuscular-transmission-defect-in-the-stiff-person-syndrome
#5
Y L Lo, Y E Tan
BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms...
December 1, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#6
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/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#7
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/27893014/durability-of-the-rituximab-response-in-acetylcholine-receptor-autoantibody-positive-myasthenia-gravis
#8
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
https://www.readbyqxmd.com/read/27892801/stability-and-migration-across-femoral-varus-derotation-osteotomies-in-children-with-neuromuscular-disorders
#9
Peter Buxbom, Stig Sonne-Holm, Niels Ellitsgaard, Christian Wong
Background and purpose - Studies have indicated that one-third of children with cerebral palsy (CP) develop dislocation of the hip that needs surgical intervention. When hip dislocation occurs during childhood surgical treatment consists of tenotomies, femoral varus derotation osteotomy (VDRO), and acetabuloplasty. Relapse is observed in one-fifth of cases during adolescence. In this prospective cohort study, we performed a descriptive evaluation of translation and rotation across VDROs in children with neuromuscular disorders and syndromes by radiostereometric analysis (RSA)...
November 28, 2016: Acta Orthopaedica
https://www.readbyqxmd.com/read/27891608/compensatory-axon-sprouting-for-very-slow-axonal-die-back-in-a-transgenic-model-of-spinal-muscular-atrophy-type-iii
#10
Esther Udina, Charles Putman, Luke Harris, N Tyreman, Victoria Cook, Tessa Gordon
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and is the leading genetic cause of infantile death. Patients lack the SMN1 gene with the severity of the disease depending on the number of copies of the highly homologous SMN2 gene. Although motoneuron death in the Smn+/- transgenic mouse model of mildest form of SMA, SMA type III, has been reported, we have used retrograde tracing of sciatic and femoral motoneurons in the hindlimb with recording of muscle and motor unit isometric forces to count the number of motoneurons with intact neuromuscular connections...
November 28, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27890878/prevalence-of-electrocardiographic-abnormalities-in-patients-with-myasthenia-gravis
#11
Jun Tsugawa, Masahiro Ogawa, Shinji Ouma, Jiro Fukae, Yoshio Tsuboi
OBJECTIVE: Myasthenia gravis (MG) is an immunological disorder of the neuromuscular junction, characterized by easy fatigability and weakness of the skeletal muscles. However, it has sometimes been reported that heart diseases including cardiomyopathies leading to sudden death have been observed in patients with MG. We studied the prevalence of electrocardiographic (ECG) abnormalities and heart disease in patients newly diagnosed with MG who had not received immunotherapy. METHODS: Fifty-three patients with MG were enrolled in our study...
November 25, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27889897/growth-differentiation-factor-15-is-a-novel-diagnostic-biomarker-of-mitochondrial-diseases
#12
Xinbo Ji, Lizhen Zhao, Kunqian Ji, Yuying Zhao, Wei Li, Rui Zhang, Ying Hou, Jianqiang Lu, Chuanzhu Yan
The present study aimed to investigate whether serum growth differentiation factor 15 concentration is a valuable and reliable diagnostic biomarker of mitochondrial diseases. We examined consecutive patients with mitochondrial diseases, in comparison with patients with non-mitochondrial disease neuromuscular disorders and healthy controls. The serum concentrations of growth differentiation factor 15 were measured by ELISA, and compared with those of FGF21, lactate, and creatine kinase. We also evaluated the correlations between growth differentiation factor 15 concentrations and the Newcastle Mitochondrial Disease Adult Scale, numbers of ragged-red fibers, and COX-negative fibers in the biopsied muscles...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27888814/diaphragmatic-dysfunction-after-thoracic-operations
#13
Henning Gaissert, Susan R Wilcox
The perioperative management of diaphragmatic weakness and phrenic nerve dysfunction is complex, due to varied etiologies and clinical presentations. The factors leading to diaphragmatic weakness may culminate after the operation with transient or persistent respiratory failure. This review discusses diaphragmatic disorders and postoperative respiratory failure caused by unilateral or bilateral diaphragmatic impairment. The origins of neuromuscular weakness involving the diaphragm are diverse, and often lie within the domains of different medical specialties, with only a portion of the condition related to surgical intervention...
November 26, 2016: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/27881628/normative-reference-values-for-strength-and-flexibility-of-1-000-children-and-adults
#14
Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns
OBJECTIVE: To establish reference values for isometric strength of 12 muscle groups and flexibility of 13 joint movements in 1,000 children and adults and investigate the influence of demographic and anthropometric factors. METHODS: A standardized reliable protocol of hand-held and fixed dynamometry for isometric strength of ankle, knee, hip, elbow, and shoulder musculature as well as goniometry for flexibility of the ankle, knee, hip, elbow, shoulder, and cervical spine was performed in an observational study investigating 1,000 healthy male and female participants aged 3-101 years...
November 23, 2016: Neurology
https://www.readbyqxmd.com/read/27878516/axonal-excitability-in-amyotrophic-lateral-sclerosis-axonal-excitability-in-als
#15
REVIEW
Susanna B Park, Matthew C Kiernan, Steve Vucic
Axonal excitability testing provides in vivo assessment of axonal ion channel function and membrane potential. Excitability techniques have provided insights into the pathophysiological mechanisms underlying the development of neurodegeneration and clinical features of amyotrophic lateral sclerosis (ALS) and related neuromuscular disorders. Specifically, abnormalities of Na(+) and K(+) conductances contribute to development of membrane hyperexcitability in ALS, thereby leading to symptom generation of muscle cramps and fasciculations, in addition to promoting a neurodegenerative cascade via Ca(2+)-mediated processes...
November 22, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27875746/de-novo-and-inherited-scn8a-epilepsy-mutations-detected-by-gene-panel-analysis
#16
Kameryn M Butler, Cristina da Silva, Yuval Shafir, James D Weisfeld-Adams, John J Alexander, Madhuri Hegde, Andrew Escayg
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory. METHODS: Sequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A...
November 6, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27875632/variable-phenotypic-expression-and-onset-in-myh14-distal-hmn-phenotype-in-a-large-multigenerational-north-american-family
#17
Stanley Iyadurai, W David Arnold, John T Kissel, Corey Ruhno, Vicki L McGovern, Pamela J Snyder, Thomas W Prior, Jennifer Roggenbuck, Arthur H Burghes, Stephen J Kolb
INTRODUCTION: Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. OBJECTIVE: To report phenotypic features in a North American family with the c.2822G>T in MYH14...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27875630/eosinophilic-fasciitis-with-subjacent-myositis
#18
Julia B Whitlock, Elliot L Dimberg, Duygu Selcen, Devon I Rubin
Introduction Eosinophilic fasciitis (EF) is a rare disorder that can present with muscle symptoms that mimic other neuromuscular diseases. Methods We report a 43-year-old woman with chronic muscle aches, tightness, and stiffness with hypertrophied, well-defined muscles despite physical inactivity, and thickened skin with reduced elasticity and discoloration. Results Except for mild peripheral eosinophilia, laboratory studies, including blood count, electrolytes, paraneoplastic panel, muscle enzymes, thyroid function, and serum protein electrophoresis were normal...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#19
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Cynthia White, Anne M Rutkowski, Raouf S Amin, Avani C Modi
BACKGROUND: Congenital muscular dystrophy (CMD) is a rare, inherited neuromuscular disease characterized by progressive muscle weakness, thoracic insufficiency, and ultimately respiratory failure. Adherence to respiratory therapies in children with neuromuscular disorders is unknown. This study examined the multimodal assessment of adherence and barriers to 15 min, twice daily hyperinsufflation in children with CMD. Adherence was hypothesized to be greater than 50% and discomfort, embarrassment, and difficulty finding time were hypothesized to be barriers...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27870893/activin-receptor-type-iib-inhibition-improves-muscle-phenotype-and-function-in-a-mouse-model-of-spinal-muscular-atrophy
#20
Min Liu, David W Hammers, Elisabeth R Barton, H Lee Sweeney
Spinal muscular atrophy (SMA) is a devastating neurodegenerative disorder that causes progressive muscle atrophy and weakness. Using adeno-associated virus-mediated gene transfer, we evaluated the potential to improve skeletal muscle weakness via systemic, postnatal inhibition of either myostatin or all signaling via the activin receptor type IIB (ActRIIB). After demonstrating elevated p-SMAD3 content and differential content of ActRIIB ligands, 4-week-old male C/C SMA model mice were treated intraperitoneally with 1x1012 genome copies of pseudotype 2/8 virus encoding a soluble form of the ActRIIB extracellular domain (sActRIIB) or protease-resistant myostatin propeptide (dnMstn) driven by a liver specific promoter...
2016: PloS One
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