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https://www.readbyqxmd.com/read/28816177/electrical-stimulation-of-gut-motility-guided-by-an-in-silico-model
#1
Bradley Brigham Barth, Craig S Henriquez, Warren M Grill, Xiling Shen
OBJECTIVE: Neuromodulation of the central and peripheral nervous systems is becoming increasingly important for treating a diverse set of diseases-ranging from Parkinson's Disease and epilepsy to chronic pain. However, neuromodulation of the gastrointestinal (GI) tract has achieved relatively limited success in treating functional GI disorders, which affect a significant population, because the effects of stimulation on the enteric nervous system (ENS) and gut motility are not well understood...
August 17, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#2
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813798/a-novel-method-for-muscle-fatigue-assessment-during-robot-based-tracking-tasks
#3
Maddalena Mugnosso, Francesca Marini, Matteo Gillardo, Pietro Morasso, Jacopo Zenzeri
In this work we propose a novel method based on sEMG signals, easy and fast to perform, administered with a robotic device to maximize repeatability and objectivity. Muscle fatigue, which is frequently experienced by healthy subjects, can be a highly debilitating symptom in case of neuromuscular disorders. Its assessment provides crucial information on the progression of the disability itself, on patient's muscular function and on the efficacy of the eventual clinical intervention. Hence, a robust and objective protocol for fatigue assessment is fundamental in rehabilitation practice...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813086/translation-and-validation-of-the-life-satisfaction-index-for-adolescents-scale-with-neuromuscular-disorders-lsi-a-brazil
#4
Valdecir Antonio Simon, Edmar Zanoteli, Margarete Andreozzi Vaz Pereira Simon, Maria Bernadete Dutra de Resende, Umbertina Conti Reed
Objective: To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods: The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the following tests were used: Cronbach's α, ICC, Pearson and the ROC Curve...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#5
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#6
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28808084/glycopyrronium-for-severe-drooling-in-children
#7
(no author information available yet)
Drooling of saliva is common in children with physical, intellectual and learning disability, and with poor neuromuscular coordination and oral control.(1) It can cause skin breakdown, damage to clothes and equipment and psychosocial problems for the child and family. For many years, glycopyrronium has been prescribed off-label using the injection solution given orally or tablets crushed and suspended in water, or as unlicensed products that were imported or manufactured as pharmaceutical specials.(2,3) In January 2017, a glycopyrronium oral solution (Sialanar-Proveca Limited) became available in the UK as the first licensed product for the treatment of severe drooling (sialorrhoea) in children and adolescents aged 3 years and older with chronic neurological disorders...
August 2017: Drug and Therapeutics Bulletin
https://www.readbyqxmd.com/read/28803268/proteomic-profiling-of-the-dystrophin-complex-and-membrane-fraction-from-dystrophic-mdx-muscle-reveals-decreases-in-the-cytolinker-desmoglein-and-increases-in-the-extracellular-matrix-stabilizers-biglycan-and-fibronectin
#8
Sandra Murphy, Heinrich Brinkmeier, Mirjam Krautwald, Michael Henry, Paula Meleady, Kay Ohlendieck
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of the highly progressive neuromuscular disorder Duchenne muscular dystrophy. In order to identify new potential binding partners of dystrophin or proteins in close proximity to the sarcolemmal dystrophin complex, proteomic profiling of the isolated dystrophin-glycoprotein complex was carried out. Subcellular membrane fractionation and detergent solubilisation, in combination with ion exchange, lectin chromatography and density gradient ultracentrifugation, was performed to isolate a dystrophin complex-enriched fraction...
August 12, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#9
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28795588/feasibility-of-peripheral-nerve-mr-neurography-using-diffusion-tensor-imaging-adapted-to-skeletal-muscle-disease
#10
Sarah Keller, Zhiyue J Wang, Amir Golsari, Anne Catherine Kim, Hendrik Kooijman, Gerhard Adam, Jin Yamamura
Background Diffusion tensor imaging (DTI) of peripheral nerves may provide additional information about nerve involvement in muscular disorders, but is considered difficult due to different optimal scan parameters tailored to magnetic resonance (MR) signal properties of muscle and neural tissues. Purpose To assess the feasibility of sciatic nerve DTI using two different approaches of region of interest (ROI)-localization in DTI scans with b-values 500 s/mm(2), in participants with muscular disorders and in controls...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28780390/a-12-year-experience-with-tracheostomy-for-neonates-and-infants-in-northern-taiwan-indications-hospital-courses-and-long-term-outcomes
#11
Chia-Huei Chen, Jui-Hsing Chang, Chyong-Hsin Hsu, Nan-Chang Chiu, Chun-Chin Peng, Wai-Tim Jim, Hung-Yang Chang, Kuo-Sheng Lee
BACKGROUND: Tracheostomy is a valuable procedure in infants and neonates with chronic respiratory failure or severe airway obstruction. The aim of this study is to identify the indication, hospital course, and long-term outcome in a cohort of infants who required tracheostomy in a neonatal and pediatric tertiary care center in northern Taiwan. METHODS: Medical records of infants, who underwent tracheostomy between January 2002 and December 2013, were retrospectively reviewed...
July 24, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28780071/myotonic-dystrophy-candidate-small-molecule-therapeutics
#12
REVIEW
Piotr Konieczny, Estela Selma-Soriano, Anna S Rapisarda, Juan M Fernandez-Costa, Manuel Perez-Alonso, Ruben Artero
Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene. Mutant DMPK transcripts are toxic and alter gene expression at several levels. Chiefly, the secondary structure formed by CUGs has a strong propensity to capture and retain proteins, like those of the muscleblind-like (MBNL) family. Sequestered MBNL proteins cannot then fulfill their normal functions. Many therapeutic approaches have been explored to reverse these pathological consequences...
August 2, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/28777179/comorbid-sleep-disturbances-in-neurologic-disorders
#13
Yo-El S Ju, Aleksandar Videnovic, Bradley V Vaughn
PURPOSE OF REVIEW: This article provides a review of disturbances of sleep comorbid with common neurologic disorders. RECENT FINDINGS: A wide variety of neurologic disorders are frequently complicated by comorbid sleep disturbances. In many cases, a bidirectional relationship appears to occur between sleep function and the neurologic disease, such that treatment of comorbid sleep disturbances may improve the symptoms of the neurologic disease. SUMMARY: Neurologic disorders are often associated with abnormalities of sleep...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28777171/diagnostic-approach-and-investigation-in-sleep-medicine
#14
Michael H Silber
PURPOSE OF REVIEW: This article provides a clinical approach to the appropriate investigation and diagnosis of sleep disorders commonly seen by neurologists. RECENT FINDINGS: Home sleep apnea testing in appropriate situations can replace laboratory polysomnography in many cases of uncomplicated sleep apnea. Multiple sleep latency tests must be performed meticulously and interpreted in the clinical setting to avoid overdiagnoses of narcolepsy. Human leukocyte antigen testing has limited utility in establishing a diagnosis of narcolepsy because a positive test has low specificity...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28768980/thyrotoxicosis-presenting-as-unilateral-drop-foot
#15
Kenju Hara, Hajime Miyata, Takahide Motegi, Ken Shibano, Hideaki Ishiguro
Neuromuscular disorders associated with hyperthyroidism have several variations in their clinical phenotype, such as ophthalmopathy, periodic paralysis, and thyrotoxic myopathy. We herein report an unusual case of thyrotoxic myopathy presenting as unilateral drop foot. Histopathological examinations of the left tibialis anterior muscle showed marked variation in the fiber size, mild inflammatory cell infiltration, and necrotic and regenerated muscle fibers with predominantly type 1 fiber atrophy. Medical treatment with propylthiouracil resulted in complete improvement of the left drop foot...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28768735/therapeutic-strategies-for-spinal-muscular-atrophy-smn-and-beyond
#16
REVIEW
Melissa Bowerman, Catherina G Becker, Rafael J Yáñez-Muñoz, Ke Ning, Matthew J A Wood, Thomas H Gillingwater, Kevin Talbot
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1 A second duplicated gene, SMN2, produces very little but sufficient functional protein for survival. Therapeutic strategies to increase SMN are in clinical trials, and the first SMN2-directed antisense oligonucleotide (ASO) therapy has recently been licensed...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28766503/could-biochemistry-lab-alert-for-low-alkaline-phosphatase-prompt-diagnosis-of-hypophosphatasia
#17
Asma Deeb, Elfatih Abubaker
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level by laboratory and the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28765879/mass-spectrometric-identification-of-dystrophin-the-protein-product-of-the-duchenne-muscular-dystrophy%C3%A2-gene-in-distinct-muscle-surface-membranes
#18
Sandra Murphy, Kay Ohlendieck
Supramolecular membrane complexes of low abundance are difficult to study by routine bioanalytical techniques. The plasmalemmal complex consisting of sarcoglycans, dystroglycans, dystrobrevins and syntrophins, which is closely associated with the membrane cytoskeletal protein dystrophin, represents such a high‑molecular‑mass protein assembly in skeletal muscles. The almost complete loss of the dystrophin isoform Dp427‑M and concomitant reduction in the dystrophin‑associated glycoprotein complex is the underlying cause of the highly progressive neuromuscular disorder named Duchenne muscular dystrophy...
July 27, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28764967/ultrasound-imaging-of-muscle-contraction-of-the-tibialis-anterior-in-patients-with-facioscapulohumeral-dystrophy
#19
Kaj Gijsbertse, Rianne Goselink, Saskia Lassche, Maartje Nillesen, André Sprengers, Nico Verdonschot, Nens van Alfen, Chris de Korte
A need exists for biomarkers to diagnose, quantify and longitudinally follow facioscapulohumeral muscular dystrophy (FSHD) and many other neuromuscular disorders. Furthermore, the pathophysiological mechanisms leading to muscle weakness in most neuromuscular disorders are not completely understood. Dynamic ultrasound imaging (B-mode image sequences) in combination with speckle tracking is an easy, applicable and patient-friendly imaging tool to visualize and quantify muscle deformation. This dynamic information provides insight in the pathophysiological mechanisms and may help to distinguish the various stages of diseased muscle in FSHD...
July 29, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28763305/update-on-diagnostics-of-metabolic-myopathies
#20
Antonio Toscano, Emanuele Barca, Olimpia Musumeci
PURPOSE OF REVIEW: This review aims to highlight the most relevant clinical and laboratory findings, regarding acute and progressive metabolic myopathies, and to develop an algorithm addressing clinicians to clinical practice. RECENT FINDINGS: Although diagnosis of metabolic myopathies remains still challenging, the recent identification of new disorders has increased the number of patients requiring specific investigations. Nowadays, a more detailed characterization of the clinical spectrum of metabolic myopathies improved awareness as well as a deeper knowledge on their natural history or multisystem involvement...
July 29, 2017: Current Opinion in Neurology
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