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https://www.readbyqxmd.com/read/28336432/behavioral-abnormalities-and-reduced-norepinephrine-in-ep4-receptor-associated-protein-eprap-deficient-mice
#1
Risako Fujikawa, Sei Higuchi, Taichi Ikedo, Manabu Nagata, Kosuke Hayashi, Tao Yang, Takeshi Miyata, Masayuki Yokode, Manabu Minami
EP4 receptor-associated protein (EPRAP) is a newly identified molecule that regulates macrophage activation. We recently demonstrated the presence of EPRAP in the mice brain; however, little is known about the function of EPRAP in this tissue. Therefore, we investigated the role of EPRAP in behavior and emotion using behavioral analysis in mice. In this study, we subjected EPRAP-deficient (KO) mice and wild-type C57BL/6 (WT) mice to a battery of behavioral tests. EPRAP-KO mice tended to have shorter latencies to fall in the wire hang test, but had normal neuromuscular strength...
March 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28336317/lethal-multiple-pterygium-syndrome-a-severe-phenotype-associated-with-a-novel-mutation-in-the-nebulin-gene
#2
Ebtesam Abdalla, Gianina Ravenscroft, Louay Zayed, Sarah J Beecroft, Nigel G Laing
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular disorders, neuromuscular junction disorders, maternal myasthenia gravis, restrictive dermopathy and others...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28330961/reference-values-for-developing-responsive-functional-outcome-measures-across-the-lifespan
#3
Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns
OBJECTIVE: To generate a reference dataset of commonly performed functional outcome measures in 1,000 children and adults and investigate the influence of demographic, anthropometric, strength, and flexibility characteristics. METHODS: Twelve functional outcome measures were collected from 1,000 healthy individuals aged 3-101 years: 6-minute walk test, 30-second chair stand test, timed stairs test, long jump, vertical jump, choice stepping reaction time, balance (Star Excursion Balance Test, tandem stance eyes open and closed, single-leg stance eyes closed), and dexterity (9-hole peg test, Functional Dexterity Test)...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#4
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28325621/-diplopia-an-important-symptom-in-internal-medicine
#5
S Bidot, V Biousse
Diplopia is defined as "double vision" when looking at a single object. Monocular diplopia is related to an ocular disorder and must be differentiated from binocular diplopia which is secondary to ocular misalignment. The examination of the patient with binocular diplopia is often challenging for non-specialists. However, a careful and systematic clinical examination followed by targeted ancillary testing allows the clinician to localize the lesion along the oculomotor pathways. The lesion may involve the brainstem, the ocular motor nerves III, IV or VI, the neuromuscular junction, the extraocular ocular muscles, or the orbit...
March 18, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28320127/measurement-properties-of-a-new-wireless-electrogoniometer-for-quantifying-spasticity-during-the-pendulum-test-in-arsacs-patients
#6
Hung Tien Bui, Cynthia Gagnon, Olivier Audet, Jean Mathieu, Mario Leone
INTRODUCTION: Autosomal recessive spastic ataxia of Charlevoix/Saguenay (ARSACS) is a neuromuscular disorder that induces spasticity in lower limbs. The Wartenberg pendulum test is a classical method of assessing lower limb spasticity based on the dynamics of the pendular leg motion. However, in its original form, this test only provides subjective results and do not allow accurate assessment of spasticity. METHODS: Thirteen ARSACS patients were assessed using a new wireless electrogoniometer to measure spasticity by quantifying oscillation amplitudes and relaxation indices during the Wartenburg pendulum test...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318818/twitch-mouth-pressure-for-detecting-respiratory-muscle-weakness-in-suspicion-of-neuromuscular-disorder
#7
Dante Brasil Santos, Gilbert Desmarais, Line Falaize, Adam Ogna, Sandrine Cognet, Bruno Louis, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Twitch mouth pressure using magnetic stimulation of the phrenic nerves and an automated inspiratory trigger is a noninvasive, non-volitional assessment of diaphragmatic strength. Our aims were to validate this method in patients with suspected neuromuscular disease, to determine the best inspiratory-trigger pressure threshold, and to evaluate whether twitch mouth pressure decreased the overdiagnosis of muscle weakness frequently observed with noninvasive volitional tests. Maximal inspiratory pressure, sniff nasal pressure, and twitch mouth pressure were measured in 112 patients with restrictive disease and suspected neuromuscular disorder...
February 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#8
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28316843/anesthetic-considerations-in-a-patient-with-myotonic-dystrophy-for-hip-labral-repair
#9
Ramon Go, David Wang, Danielle Ludwin
Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients. Thorough preoperative assessment and anesthetic planning are required to minimize the risk of anesthetic complications. Patients with DM can exhibit exquisite sensitivity to sedatives, neuromuscular blocking agents, and volatile anesthetics, resulting in potential postoperative complications...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28315283/effect-of-swallowing-rehabilitation-protocol-on-swallowing-function-in-patients-with-esophageal-atresia-and-or-tracheoesophageal-fistula
#10
Selen Serel Arslan, Tutku Soyer, Numan Demir, Sule Yalcın, Ayşe Karaduman, Ibrahim Karnak, Feridun Cahit Tanyel
Aim The aim of this study was to evaluate the results of Swallowing Rehabilitation Protocol (SRP) on swallowing function (SF) of esophageal atresia and tracheoesophageal fistula (EA-TEF) patients with pharyngeal swallowing disorder. Materials and Methods In this study, 24 children with EA-TEF who had deglutitive and respiratory problems were grouped into either study (n = 12) or control group (n = 12) by basic randomization. Study group received the SRP including neuromuscular electrical stimulation, thermal tactile stimulation, and hyolaryngeal mobilization...
March 17, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28299299/effect-of-early-physical-activity-programs-on-motor-performance-and-neuromuscular-development-in-infants-born-preterm-a-randomized-clinical-trial
#11
Leila Valizadeh, Mahnaz Sanaeefar, Mohammad Bager Hosseini, Mohammad Asgari Jafarabadi, Aryan Shamili
Introduction: Although the survival rate of infants born preterm has increased, the prevalence of developmental problems and motor disorders among this population of infants remains the same. This study investigated the effect of physical activity programs in and out of water on motor performance and neuromuscular development of infants born preterm and had induced immobility by mechanical ventilation. Methods: This study was carried out in Al-Zahra hospital, Tabriz. 76 premature infants were randomly assigned into four groups...
March 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28293536/early-onset-bilateral-juvenile-myasthenia-gravis-masquerading-as-simple-congenital-ptosis
#12
Md Shahid Alam, Pratheeba Devi Nivean
Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28293469/motor-unit-potentials-of-the-erector-spinae-muscle-by-concentric-needle-electromyography
#13
Andreas Posa, Izabela Niśkiewicz, Alexander Emmer, Yorck Kluge, Malte E Kornhuber
INTRODUCTION: The needle electromyography (EMG) serves to supply additional information in patients with suspected neuromuscular disorders. We aimed to provide motor unit potential (MUP) data by concentric needle EMG in the erector spinae (ES) in comparison with biceps brachii (BB) and lateral vastus (LV). METHODS: Electromyography MUP data (n) were obtained in ES (517), BB (539), and LV (627) in 32 healthy volunteers (16f). RESULTS: Motor unit potential data: amplitude (μV) 393 ± 174 (ES), 375 ± 162 (BB), and 577 ± 304 (LV); duration (ms) 10...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28284874/corrigendum-to-categorizing-natural-history-trajectories-of-ambulatory-function-measured-by-the-6-minute-walk-distance-in-patients-with-duchenne-muscular-dystrophy-neuromuscular-disorders-26-9-2016-576-583
#14
Eugenio Mercuri, James Edward Signorovitch, Elyse Swallow, Jinlin Song, Susan J Ward
No abstract text is available yet for this article.
March 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#15
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283332/corrigendum-to-challenges-in-pediatric-chronic-inflammatory-demyelinating-polyneuropathy-neuromuscular-disorders-26-12-2016-817-824
#16
Göknur Haliloğlu, Deniz Yüksel, Cağri Mesut Temoçin, Haluk Topaloğlu
No abstract text is available yet for this article.
March 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28282709/analysis-of-saccular-function-with-vestibular-evoked-myogenic-potential-test-in-meniere-s-disease
#17
Sasan Dabiri, Nasrin Yazdani, Mahdis Esfahani, Niloufar Tari, Susan Adil, Zahra Mahvi, Nima Rezazadeh
Meniere's disease is the disorder of inner ear characterized by vertigo, tinnitus and sensorineural hearing loss. The vestibular evoked myogenic potential (VEMP) test could be useful in the analysis of saccular function, and diagnosis of Meniere's disease. In this study, we've analyzed the saccular function, using VEMP test in different groups of Meniere's disease. Patients were categorized as possible, probable or definite Meniere's disease groups according to the guideline of American Academy of Otolaryngology-Head and Neck Surgery...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28281681/chemogenetic-stimulation-of-the-hypoglossal-neurons-improves-upper-airway-patency
#18
Thomaz Fleury Curado, Kenneth Fishbein, Huy Pho, Michael Brennick, Olga Dergacheva, Luiz U Sennes, Luu V Pham, Ellen E Ladenheim, Richard Spencer, David Mendelowitz, Alan R Schwartz, Vsevolod Y Polotsky
Obstructive sleep apnea (OSA) is characterized by recurrent upper airway obstruction during sleep. OSA leads to high cardiovascular morbidity and mortality. The pathogenesis of OSA has been linked to a defect in neuromuscular control of the pharynx. There is no effective pharmacotherapy for OSA. The objective of this study was to determine whether upper airway patency can be improved using chemogenetic approach by deploying designer receptors exclusively activated by designer drug (DREADD) in the hypoglossal motorneurons...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28280301/eteplirsen-in-the-treatment-of-duchenne-muscular-dystrophy
#19
REVIEW
Kenji Rowel Q Lim, Rika Maruyama, Toshifumi Yokota
Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500-5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers. In September 2016, the US Food and Drug Administration granted accelerated approval for eteplirsen (or Exondys 51), a drug that acts to promote dystrophin production by restoring the translational reading frame of DMD through specific skipping of exon 51 in defective gene variants...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28273554/head-drop-after-botox-electrodiagnostic-evaluation-of-iatrogenic-botulinum-toxicity
#20
Eliza Szuch, James B Caress, Bandhu Paudyal, Allison Brashear, Michael S Cartwright, Roy E Strowd
BACKGROUND: Botulinum is a potent neurotoxin with increasing indications for neurologic disorders. While clinical benefit manifests primarily due to local actions at the neuromuscular junction, regional and systemic effects do occur. Rarely, systemic symptoms including weakness, dysarthria, dysphagia and other side effects occur as a result of iatrogenic botulinum neurotoxicity. CASE: A 72 year-old female with right leg dystonia developed head drop, bulbar and systemic weakness following right lower extremity botulinum toxin injection...
March 5, 2017: Clinical Neurology and Neurosurgery
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