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https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#1
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#2
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28208850/motor-nerve-conduction-velocity-in-postmenopausal-women-with-peripheral-neuropathy
#3
Akanksha Singh, Naiyer Asif, Paras Nath Singh, Mohd Mobarak Hossain
INTRODUCTION: The post-menopausal phase is characterized by a decline in the serum oestrogen and progesterone levels. This phase is also associated with higher incidence of peripheral neuropathy. AIM: To explore the relationship between the peripheral motor nerve status and serum oestrogen and progesterone levels through assessment of Motor Nerve Conduction Velocity (MNCV) in post-menopausal women with peripheral neuropathy. MATERIALS AND METHODS: This cross-sectional study was conducted at Jawaharlal Nehru Medical College during 2011-2013...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28179161/electrospun-nanofiber-sheets-incorporating-methylcobalamin-promote-nerve-regeneration-and-functional-recovery-in-a-rat-sciatic-nerve-crush-injury-model
#4
Koji Suzuki, Hiroyuki Tanaka, Mitsuhiro Ebara, Koichiro Uto, Hozo Matsuoka, Shunsuke Nishimoto, Kiyoshi Okada, Tsuyoshi Murase, Hideki Yoshikawa
: Peripheral nerve injury is one of common traumas. Although injured peripheral nerves have the capacity to regenerate, axon regeneration proceeds slowly and functional outcomes are often poor. Pharmacological enhancement of regeneration can play an important role in increasing functional recovery. In this study, we developed a novel electrospun nanofiber sheet incorporating methylcobalamin (MeCbl), one of the active forms of vitamin B12 homologues, to deliver it enough locally to the peripheral nerve injury site...
February 4, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28173645/-peripheral-nerve-injury-in-lama2-related-congenital-muscular-dystrophy-patients
#5
X P Liang, S Wang, W Zhang, Y Yuan, J Ding, X Z Chang, C J Wei, J Y Liu, H Xiong
Objective: To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA2 gene mutation. Method: Seventeen patients genetically or molecular pathologically diagnosed as LAMA2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015. All the patients received nerve conduction velocity (NCV) and needle electromyography tests. Clinical and laboratory examination data of the patients was retrospectively analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28170189/mesenchymal-stem-cells-yield-transient-improvements-in-motor-function-in-an-infant-rhesus-macaque-with-severe-early-onset-krabbe-disease
#6
Irina A Isakova, Kate C Baker, Jason Dufour, Donald G Phinney
Krabbe disease, or globoid cell leukodystrophy, is a rare disorder caused by deficient galactosylceramidase activity and loss of myelin-forming oligodendrocytes, resulting in progressive demyelination and severely impaired motor function. Disease symptoms in humans appear within 3-6 months of age (early infantile) and manifest as marked irritability, spasticity, and seizures. The disease is often fatal by the second year of life, with few effective treatment options. Herein we evaluated the therapeutic potential of mesenchymal stem cells (MSCs) administered intracranially to a 1-month-old rhesus macaque diagnosed with severe early-onset Krabbe disease that displayed neurologic and behavioral symptoms similar to those of human patients...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28164329/charcot-marie-tooth-disease-type-1c-clinical-and-electrophysiological-findings-for-the-c-334g-a-p-gly112ser-litaf-simple-mutation
#7
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Charcot-Marie-Tooth Disease type 1 C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. METHODS: We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases...
February 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28161089/are-electrophysiological-features-related-to-disability-in-patients-with-anti-mag-neuropathy
#8
Aude Gesquière-Dando, Emilien Delmont, Mael Launay, Jose Boucraut, Sharham Attarian
OBJECTIVES: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy. METHODS: Clinical and electrophysiological data of 42 patients with anti-MAG neuropathy were retrospectively analysed. Disability was evaluated using the Overall Neuropathy Limitation Scale (ONLS), motor impairment through MRC sum score and sensory deficiency through INCAT sensory score. Compound motor action potential (CMAP) sum score was calculated adding the distal CMAP amplitude of the median, ulnar, tibial and fibular nerves of both sides...
February 1, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28152586/novel-flexible-nerve-conduits-made-of-water-based-biodegradable-polyurethane-for-peripheral-nerve-regeneration
#9
Shan-Hui Hsu, Wen-Chi Chang, Chen-Tung Yen
Peripheral nerve conduits were fabricated from biodegradable polyurethane (PU) which was synthesized by a waterborne process. The biodegradable PU was based on poly(ε-caprolactone) diol and polyethylene butylene adipate diol (2:3 molar ratio) as the soft segment. Conduits formed by the freeze-drying process had asymmetric microporous structure. The PU nerve conduits were used to bridge a 10 mm gap in rat sciatic nerve. Nerve regeneration was evaluated by walking track analysis, magnetic resonance imaging (MRI), electrophysiological, and histological analyses...
February 2, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/28145994/pulsed-focused-ultrasound-changes-nerve-conduction-of-earthworm-giant-axonal-fibers
#10
Sarah H Yoo, Phillip Croce, Ryan W Margolin, Stephanie D Lee, Wonhye Lee
This study examined the effects of pulsed focused ultrasound (FUS) in disrupting nerve conduction. FUS operating at a 210 kHz fundamental frequency was administered to the medial and lateral giant axonal nerve fibers of earthworms in a burst of pulses (1 ms tone burst duration, 20 Hz pulse repetition frequency). The magnitude and latencies of the nerve potentials induced by electrical stimulation were measured under three experimental conditions - (I) no sonication, (II) sonication at 600 mW/cm spatial-peak temporal-average intensity (Ispta), and (III) sonication at 200 mW/cm Ispta...
January 31, 2017: Neuroreport
https://www.readbyqxmd.com/read/28139851/betacellulin-regulates-schwann-cell-proliferation-and-myelin-formation-in-the-injured-mouse-peripheral-nerve
#11
Nicolas Vallières, Benoit Barrette, Linda Xiang Wang, Erik Bélanger, Louise Thiry, Marlon R Schneider, Mohammed Filali, Daniel Côté, Frédéric Bretzner, Steve Lacroix
When a nerve fiber is cut or crushed, the axon segment that is separated from the soma degenerates distal from the injury in a process termed Wallerian degeneration (WD). C57BL/6OlaHsd-Wld(S) (Wld(S) ) mutant mice exhibit significant delays in WD. This results in considerably delayed Schwann cell and macrophage responses and thus in impaired nerve regenerations. In our previous work, thousands of genes were screened by DNA microarrays and over 700 transcripts were found to be differentially expressed in the injured sciatic nerve of Wld(S) compared with wild-type (WT) mice...
January 31, 2017: Glia
https://www.readbyqxmd.com/read/28138265/optimal-control-of-reaching-is-disturbed-in-complex-regional-pain-syndrome-a-single-case-study
#12
Michihiro Osumi, Masahiko Sumitani, Shin-Ichiro Kumagaya, Shu Morioka
OBJECTIVE: Disturbance of goal-directed motor control may cause or exacerbate pathological pain in patients with complex regional pain syndrome (CRPS). We conducted a single-case study about motor control involved in reaching with a patient with CRPS in an upper limb. METHODS: Using a three-dimensional measurement system, we recorded reaching movement trajectories of the intact and affected hand before and after pain alleviation by therapeutic nerve blockade. We assessed degrees of tremor in the acceleration phase (from start until maximum peak velocity) and the deceleration phase (from maximum peak velocity until goal)...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28138246/association-of-peripheral-neuropathy-with-sleep-related-breathing-disorders-in-myotonic-dystrophies
#13
Marta Banach, Jakub Antczak, Rafał Rola
BACKGROUND: Myotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28137843/alphab-crystallin-regulates-remyelination-after-peripheral-nerve-injury
#14
Erin-Mai F Lim, Stan T Nakanishi, Vahid Hoghooghi, Shane E A Eaton, Alexandra L Palmer, Ariana Frederick, Jo A Stratton, Morgan G Stykel, Patrick J Whelan, Douglas W Zochodne, Jeffrey Biernaskie, Shalina S Ousman
AlphaB-crystallin (αBC) is a small heat shock protein that is constitutively expressed by peripheral nervous system (PNS) axons and Schwann cells. To determine what role this crystallin plays after peripheral nerve damage, we found that loss of αBC impaired remyelination, which correlated with a reduced presence of myelinating Schwann cells and increased numbers of nonmyelinating Schwann cells. The heat shock protein also seems to regulate the cross-talk between Schwann cells and axons, because expected changes in neuregulin levels and ErbB2 receptor expression after PNS injury were disrupted in the absence of αBC...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28133612/tang-luo-ning-improves-mitochondrial-antioxidase-activity-in-dorsal-root-ganglia-of-diabetic-rats-a-proteomics-study
#15
Taojing Zhang, Yanbin Gao, Yanbin Gong, Hui Zhou, Peifeng Xie, Song Guan, Wenming Yi
Tang-luo-ning (TLN) is a traditional Chinese herbal recipe for treating diabetic peripheral neuropathy (DPN). In this study, we investigated mitochondrial protein profiles in a diabetic rat model and explored the potential protective effect of TLN. Diabetic rats were established by injection of streptozocin (STZ) and divided into model, alpha lipoic acid (ALA), and TLN groups. Mitochondrial proteins were isolated from dorsal root ganglia and proteomic analysis was used to quantify the differentially expressed proteins...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28123431/tissue-engineered-rhesus-monkey-nerve-grafts-for-the-repair-of-long-ulnar-nerve-defects-similar-outcomes-to-autologous-nerve-grafts
#16
Chang-Qing Jiang, Jun Hu, Jian-Ping Xiang, Jia-Kai Zhu, Xiao-Lin Liu, Peng Luo
Acellular nerve allografts can help preserve normal nerve structure and extracellular matrix composition. These allografts have low immunogenicity and are more readily available than autologous nerves for the repair of long-segment peripheral nerve defects. In this study, we repaired a 40-mm ulnar nerve defect in rhesus monkeys with tissue-engineered peripheral nerve, and compared the outcome with that of autograft. The graft was prepared using a chemical extract from adult rhesus monkeys and seeded with allogeneic Schwann cells...
November 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28120337/effect-of-hip-and-knee-position-on-nerve-conduction-in-the-common-fibular-nerve
#17
Peter Kaas Broadhurst, Lawrence R Robinson
INTRODUCTION: The aim of this study was to measure the influence that hip and knee position have on routine fibular motor nerve conduction studies. METHODS: Healthy subjects under age 40 were recruited (n=24) to have fibular nerve conduction studies completed in various positions, using hip extension-knee extension as a control. RESULTS: A mean increase in conduction velocity of 2.5 m/s across the knee (p = 0.020) was seen during hip flexion compared with hip extension...
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28120083/combination-of-magnetic-resonance-imaging-and-electrophysiological-studies-in-lumbar-disc-herniation
#18
Wenxiang Zhong, Jichao Wang, Wenchuan Zhang, Pengfei Liu, Massimiliano Visocchi, Shi-Ting Li
Objective We aimed to study the clinical value of magnetic resonance imaging (MRI) and electrophysiological studies in the diagnosis of lumbar disc herniation and in the evaluation of the therapeutic effect of discectomy. Methods In this study, 265 patients with LDH were treated with discectomy after assessment by the Japanese Orthopedic Association (JOA) score, MRI, and electrophysiological studies. All the patients were followed-up for 6 years. The effects of the operation were assessed by determining the angle between the nerve root canal and disc protrusion (AN value), the stenotic ratio of the spinal canal, the width of the lateral recess, motor conduction velocity (MCV), sensory conduction velocity (SCV), and nerve action potential (NAP) before and after operation...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28111416/changes-of-median-nerve-conduction-velocity-in-rayon-manufacturing-workers-a-6-year-cohort-study
#19
Noriyuki Yoshioka, Toru Takebayashi, Yuji Nishiwaki, Tetsuo Nomiyama, Satoko Iwasawa, Haruhiko Sakurai, And Kazuyuki Omae
OBJECTIVES: We conducted a 6-year cohort study to evaluate the relationship between carbon disulfide (CS2) exposure and reductions in the motor and sensory nerve conduction velocity (MCV and SCV) of the median nerve. METHODS: Study subjects at baseline included 432 exposed workers and 402 unexposed workers. Among the exposed workers, 145 workers terminated CS2 exposure during the follow-up period (ex-exposed workers). MCV and SCV were measured at baseline and followed up...
January 21, 2017: Journal of Occupational Health
https://www.readbyqxmd.com/read/28108290/pmp22-mutant-allele-specific-sirna-alleviates-demyelinating-neuropathic-phenotype-in-vivo
#20
Ji-Su Lee, Eun Hyuk Chang, Ok Jae Koo, Dong Hwan Jwa, Won Min Mo, Geon Kwak, Hyo Won Moon, Hwan Tae Park, Young Bin Hong, Byung-Ok Choi
Charcot-Marie-Tooth disease (CMT) is a genetic disorder that can be caused by aberrations in >80 genes. CMT has heterogeneous modes of inheritance, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Over 95% of cases are dominantly inherited. In this study, we investigated whether regulation of a mutant allele by an allele-specific small interfering RNA (siRNA) can alleviate the demyelinating neuropathic phenotype of CMT. We designed 19 different allele-specific siRNAs for Trembler J (Tr-J) mice harboring a naturally occurring mutation (Leu16Pro) in Pmp22...
January 17, 2017: Neurobiology of Disease
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