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https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#1
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28321484/rhabdomyolysis-resulting-in-concurrent-horner-s-syndrome-and-brachial-plexopathy-a-case-report
#2
Susan C Lee, Christian Geannette, Scott W Wolfe, Joseph H Feinberg, Darryl B Sneag
This case report describes a 29-year-old male who presented with immediate onset of Horner's syndrome and ipsilateral brachial plexopathy after sleeping with his arm dangling outside a car window for 8 h. Outside workup and imaging revealed rhabdomyolysis of the left neck musculature. Subsequent electrodiagnostic testing and high-resolution brachial plexus magnetic resonance imaging at the authors' institution attributed the Horner's syndrome and concurrent brachial plexopathy to rhabdomyolysis of the longus colli and scalene musculature, which had compressed-and consequently scar tethered-the cervical sympathetic trunk and brachial plexus...
March 20, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28315611/added-value-of-electromyography-in-the-diagnosis-of-myopathy-a-consensus-exercise
#3
K Pugdahl, B Johnsen, H Tankisi, J P Camdessanché, M de Carvalho, P R W Fawcett, A Labarre-Vila, R Liguori, W Nix, I Schofield, A Fuglsang-Frederiksen
OBJECTIVE: Currently, neurologists may primarily rely on blood biomarkers, muscle biopsy, MRI, and genetics in the diagnostic work-up of suspected myopathy. Using expert consensus as diagnostic reference standard, this study addressed the added value of electrodiagnostic medicine (EDX) in diagnosis of myopathies. METHODS: One hundred ninety-four EDX evaluations of patients with a peer-review consensus diagnosis of myopathy were collected by seven European centres...
February 15, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28301414/ocular-toxicity-after-inadvertent-intracameral-injection-of-high-dose-of-cefuroxime-during-cataract-surgery-a-case-series
#4
Radua Kamal-Salah, Olayinka Osoba, Edward Doyle
PURPOSE: To report ocular side effects after inadvertent intracameral injection of a high dose of cefuroxime. METHODS: Nineteen eyes of 19 patients were seen in our eye department 1 week after the referring surgeon had injected an erroneous dose of intracameral cefuroxime (12.5 mg/0.1 mL in 14 patients, Group A, and 10 mg/0.1 mL in 5 patients, Group B) at the end of a cataract surgery. A complete ophthalmic examination was performed postoperatively. RESULTS: Eight patients (42...
March 15, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28289636/electrophysiologic-and-ultrasonographic-assessment-of-carpal-tunnel-syndrome-in-wheelchair-basketball-athletes
#5
Do Kyun Kim, Beom Suk Kim, Min Je Kim, Ki Hoon Kim, Byung Kyu Park, Dong Hwee Kim
OBJECTIVE: To investigate the contributing factors of carpal tunnel syndrome (CTS), electrodiagnostic and ultrasonographic findings of median nerve, and median nerve change after exercise in wheelchair basketball (WCB) players. METHODS: Fifteen WCB players with manual wheelchairs were enrolled in the study. Medical history of the subjects was taken. Electrodiagnosis and ultrasonography of both median nerves were performed to assess CTS in WCB players. Ultrasonographic median nerves evaluation was conducted after wheelchair propulsion for 20 minutes...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28284457/the-accuracy-of-the-scratch-collapse-test-performed-by-blinded-examiners-on-patients-with-suspected-carpal-tunnel-syndrome-assessed-by-electrodiagnostic-studies
#6
Jeremy Simon, Kevin Lutsky, Mitchell Maltenfort, Pedro K Beredjiklian
PURPOSE: A diagnostic maneuver known as the "scratch-collapse test" (SCT), to aid in the diagnosis of compressive upper limb neuropathies such as carpal tunnel syndrome (CTS), has been described. There is a wide variability in the sensitivity and specificity values reported to date, and the reason for this discrepancy is unclear. The purpose of this study was to evaluate the utility of the SCT performed by examiners blinded to the meaning of the examination. METHODS: Forty consecutive patients referred to a single physiatrist for electrodiagnostic testing for the evaluation of suspected CTS were included in the study...
March 8, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28282235/artifacts-during-short-term-interictal-electroencephalographic-recording-in-dogs
#7
Alberto Cauduro, Maurizio Dondi, Paolo Favole, Mauro Opreni, Lucia Antonietta Simonetto, Valentina Lorenzo
The electroencephalogram (EEG) is an electrodiagnostic technique widely used in both scientific research and clinical medicine. It makes it possible to study the neurophysiology of brain activity by recording real-time changes in electrical potential produced by cortical activation. The importance of EEG in diagnosing canine epilepsy demonstrates its usefulness when the owner's description of crises is not clear or when the episodes cannot be differentiated from behavioral or cardiac disorders. However, EEG recordings also often record electrical activity from sources other than the brain, which may interfere with the clinical event-related signal...
March 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28273554/head-drop-after-botox-electrodiagnostic-evaluation-of-iatrogenic-botulinum-toxicity
#8
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
https://www.readbyqxmd.com/read/28267216/neurological-manifestations-in-dogs-naturally-infected-by-leishmania-infantum-descriptions-of-10-cases-and-a-review-of-the-literature
#9
REVIEW
A P Giannuzzi, M Ricciardi, A De Simone, F Gernone
In order to evaluate possible nervous system involvement in canine leishmaniasis, retrospective evaluation of all medical records of leishmaniotic dogs exhibiting neurological signs referred to our hospital over a 5-year period was performed. The records of 10 dogs were reviewed. Depending on the neuroanatomical localisation, the dogs underwent advanced diagnostic imaging, cerebrospinal fluid analysis, electrodiagnostic testing and histopathologic evaluations. The final neurological diagnosis was: meningoencephalitis (n=2), brain haemorrhagic stroke (n=1), haemorrhagic choroiditis (n=1), meningomyelitis (n=2), ischaemic myelopathy (n=1), polymyositis (n=2) and peripheral neuropathy (n=1)...
March 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28258866/-peripheral-neuropathies-diagnostic-strategy
#10
L Magy
Diagnosing a peripheral neuropathy is sometimes challenging, as the causes are diverse and the clinical pictures heterogeneous. Overall, diagnosing a patient with peripheral neuropathy will require some knowledge in almost every field of medicine. Therefore, it appears crucial to adopt a diagnostic strategy that is based on solid clinical and neurophysiological grounds. The present paper describes a three-step diagnostic strategy: (1) to delineate a clinico-pathologic entity from clinical and electrodiagnostic findings; (2) to propose a list of plausible causes based on step one, history and clinical context; (3) to use appropriate workup in order to determine the cause or mechanism of the neuropathy...
February 28, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28253535/homozygous-mutations-in-vamp1-cause-a-presynaptic-congenital-myasthenic-syndrome
#11
Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stephanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam Krishnakumar, Matthew Pitt, Oscar Bello, James E Rothman, Lina Basel-Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y Manzur, Brunhilde Wirth, Henry Houlden
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is required for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action potentials and presynaptic impairment. We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ transmission in VAMP1(lew/lew) mice, observing neurophysiological features of presynaptic impairment, similar to the patients...
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253385/association-of-steroid-5%C3%AE-reductase-type-3-congenital-disorder-of-glycosylation-with-early-onset-retinal-dystrophy
#12
Rachel L Taylor, Gavin Arno, James A Poulter, Kamron N Khan, Jiten Morarji, Sarah Hull, Nikolas Pontikos, Antonio Rueda Martin, Katherine R Smith, Manir Ali, Carmel Toomes, Martin McKibbin, Jill Clayton-Smith, Stephanie Grunewald, Michel Michaelides, Anthony T Moore, Alison J Hardcastle, Chris F Inglehearn, Andrew R Webster, Graeme C Black
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a consistent primary presenting feature. Objective: To investigate a series of patients with the same mutation in the SRD5A3 gene and thereby characterize its retinal manifestations and other associated features. Design, Setting and Participants: Seven affected individuals from 4 unrelated families with early-onset retinal dystrophy as a primary manifestation underwent comprehensive ophthalmic assessment, including retinal imaging and electrodiagnostic testing...
March 2, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28245733/targeted-fascicular-biopsy-of-the-brachial-plexus-rationale-and-operative-technique
#13
Pierre Laumonerie, Stepan Capek, Kimberly K Amrami, P James B Dyck, Robert J Spinner
OBJECTIVE Nerve biopsy is useful in the management of neuromuscular disorders and is commonly performed in distal, noncritical cutaneous nerves. In general, these procedures are diagnostic in only 20%-50%. In selected cases in which preoperative evaluation points toward a more localized process, targeted biopsy would likely improve diagnostic yield. The authors report their experience with targeted fascicular biopsy of the brachial plexus and provide a description of the operative technique. METHODS All cases of targeted biopsy of the brachial plexus biopsy performed between 2003 and 2015 were reviewed...
March 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28245669/the-nearly-invisible-intraneural-cyst-a-new-and-emerging-part-of-the-spectrum
#14
Thomas J Wilson, Marie-Noëlle Hébert-Blouin, Naveen S Murthy, Joaquín J García, Kimberly K Amrami, Robert J Spinner
OBJECTIVE The authors have observed that a subset of patients referred for evaluation of peroneal neuropathy with "negative" findings on MRI of the knee have subtle evidence of a peroneal intraneural ganglion cyst on subsequent closer inspection. The objective of this study was to introduce the nearly invisible peroneal intraneural ganglion cyst and provide illustrative cases. The authors further wanted to identify clues to the presence of a nearly invisible cyst. METHODS Illustrative cases demonstrating nearly invisible peroneal intraneural ganglion cysts were retrospectively reviewed and are presented...
March 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28236574/novel-biomarkers-of-human-gm1-gangliosidosis-reflect-the-clinical-efficacy-of-gene-therapy-in-a-feline-model
#15
Heather L Gray-Edwards, Debra S Regier, Jamie L Shirley, Ashley N Randle, Nouha Salibi, Sarah E Thomas, Yvonne L Latour, Jean Johnston, Gretchen Golas, Annie S Maguire, Amanda R Taylor, Donald C Sorjonen, Victoria J McCurdy, Peter W Christopherson, Allison M Bradbury, Ronald J Beyers, Aime K Johnson, Brandon L Brunson, Nancy R Cox, Henry J Baker, Thomas S Denney, Miguel Sena-Esteves, Cynthia J Tifft, Douglas R Martin
GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats-either untreated or AAV treated for more than 5 years-and compared them to markers in human GM1 patients where possible...
February 21, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#16
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221301/electrodiagnostic-characterization-of-hereditary-neuropathy-with-liability-to-pressure-palsies
#17
Sachiko Takahashi, Marvin Chum, Kurt Kimpinski
OBJECTIVES: The study objective was electrodiagnostic characterization of a large cohort of patients with genetically confirmed hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: A retrospective review was conducted on all patients with HNPP seen at the neuromuscular clinic (London, Canada) from 1977 to 2015. Clinical data obtained included patient characteristics, examination findings, and nerve conduction study results. RESULTS: A total of 46 patients were analyzed...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28209312/is-carpal-tunnel-syndrome-present-in-acute-stroke-patients-an-investigative-study-using-clinical-and-imaging-screening-tools
#18
Chen Lin, Aaron I Loochtan, Brian Dresser, Jianhong Chang, Alfredo E Farjat, Kingshuk Choudhury, Lisa D Hobson-Webb
Carpal tunnel syndrome (CTS) is known to develop post-stroke. Median nerve ultrasound (US) is an inexpensive, effective means of screening. In this prospective feasibility study, we compared the ability of the physical exam, the Boston Carpal Tunnel Questionnaire (BCTQ) and median nerve US to screen for carpal tunnel syndrome (CTS) within 72hours of stroke onset. We enrolled 24 consecutive patients. Using US, 19 (79%, p=0.0386) of the 24 patients screened positive for CTS on the paretic side and 20 (83%, p=0...
February 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28207399/motor-unit-potential-jitter-a-new-measure-of-neuromuscular-transmission-instability
#19
Meena AbdelMaseeh, Daniel Stashuk
OBJECTIVE: A new measure of neuromuscular transmission instability, motor unit potential (MUP) jitter, is introduced. MUP jitter can be estimated quickly using motor unit potential trains (MUPTs) extracted from electromyographic (EMG) signals acquired using conventional clinical equipment and needle EMG electrodiagnostic protocols. The primary motivation for developing MUP jitter is to avoid the technical demands associated with estimating jitter using conventional single fibre EMG techniques...
February 9, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28181271/extrapolated-reference-values-e-ref-theory-algorithm-and-results-in-patients-control-subjects
#20
Sanjeev D Nandedkar, Donald B Sanders, Lisa D Hobson-Webb, Santoshi Billlakota, Paul E Barkhaus, Erik V Stålberg
INTRODUCTION: Reference values (RVs) are required to separate normal from abnormal values obtained in electrodiagnostic (EDX) testing. However, it is frequently impractical to perform studies on control subjects to obtain RVs. The Extrapolated Reference Values (E-Ref) procedure extracts RVs from data obtained during clinically indicated EDX testing. We compared the E-Ref results with established RVs in several sets of EDX data. METHODS: The mathematical basis for E-Ref was explored to develop an algorithm for the E-Ref procedure...
February 9, 2017: Muscle & Nerve
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