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https://www.readbyqxmd.com/read/28538036/multiple-cranial-nerve-palsies-in-giant-cell-arteritis
#1
Michael Ross, Lulu Bursztyn, Rosanne Superstein, Mark Gans
Giant cell arteritis (GCA) is a systemic vasculitis of medium and large arteries often with ophthalmic involvement, including ischemic optic neuropathy, retinal artery occlusion, and ocular motor cranial nerve palsies. This last complication occurs in 2%-15% of patients, but typically involves only 1 cranial nerve. We present 2 patients with biopsy-proven GCA associated with multiple cranial nerve palsies.
May 18, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#2
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28527161/prognostic-indicators-of-response-to-plasmapheresis-in-patients-of-guillain-barre-syndrome
#3
H B Prasad, R T Borse, A N Avate, Assistant Professor In Medicine Palasdeokar
INTRODUCTION: Plasmapheresis is an important modality for the treatment of GBS. Moreover the response to this treatment modality is not same in all cases. We therefore studied the various prognostic indicators of response to plasmapheresis in patients of Guillain Barre Syndrome. MATERIAL AND METHODS: 40 patients were included in the study. Thorough clinical examination was done. Nerve conduction was done to find out the type of neuropathy. All were then given plasmapheresis...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28523213/brachial-plexus-magnetic-resonance-imaging-differentiates-between-inflammatory-neuropathies-and-does-not-predict-disease-course
#4
Bas A Jongbloed, Jeroen W Bos, Dirk Rutgers, Willem Ludo van der Pol, Leonard H van den Berg
OBJECTIVE: The main objective of this study was to evaluate the correlation between the distribution of brachial plexus magnetic resonance imaging (MRI) abnormalities and clinical weakness, and to evaluate the value of brachial plexus MRI in predicting disease course and response to treatment in multifocal motor neuropathy (MMN), Lewis-Sumner syndrome (LSS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Sixty-seven patients with an inflammatory neuropathy diagnosed at our tertiary referral center for neuromuscular diseases had undergone bilateral T2-weighted short tau inversion recovery (STIR) MRI of the brachial plexus...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28512503/massive-oculomotor-nerve-enlargement-a-case-of-presumed-schwannomatosis
#5
Laura Donaldson, Ryan Rebello, Amadeo Rodriguez
A 45-year-old man presented with a slowly progressive pupil-involving third nerve palsy. Magnetic resonance imaging (MRI) revealed a tubular lesion extending from the interpeduncular cistern through the cavernous sinus and into the left orbit where it branched into a superior and an inferior division, clearly outlining the anatomy of the third cranial nerve. Multiple other, less pronounced, enlarged cranial nerves were noted. The differential diagnosis included chronic inflammatory demyelinating polyneuropathy (CIDP), hereditary motor and sensory neuropathy (HMSN), neurofibromatosis (NF), and schwannomatosis...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#6
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28503341/peripheral-and-central-nervous-system-involvement-in-recently-diagnosed-cases-of-hypothyroidism-an-electrophysiological-study
#7
N Gupta, M Arora, R Sharma, K S Arora
BACKGROUND: Hypothyroidism, one of the most common endocrine disorders, may induce neurological abnormalities at an early stage of the disease. AIM: The study was designed to assess the electrophysiological alterations of some selected variables of nerve conduction, brainstem auditory evoked potentials (BAEPs), and visual evoked potentials (VEPs) in hypothyroid patients. SUBJECTS AND METHODS: Sixty patients of newly diagnosed hypothyroidism and an equal number of age-matched controls were selected for the study...
September 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28498055/the-intercostal-nerve-as-a-target-for-diagnostic-biopsy
#8
Khoi D Nguyen, Haroon F Choudhri, Samuel D Macomson
OBJECTIVE Peripheral nerve biopsy is a useful tool in diagnosing peripheral neuropathies. Sural and gracilis nerves have become the most common targets for nerve biopsy. However, the yield of sural nerve biopsy is limited in patients who have motor neuropathies, and gracilis nerve biopsy presents technical challenges and increased complications. The authors propose the intercostal nerve as an alternative motor nerve target for biopsy. METHODS A total of 4 patients with suspected peripheral neuropathies underwent intercostal nerve biopsy at the authors' institution...
May 12, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#9
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28491317/marathoning-with-myotonic-dystrophy-type-2-proximal-myotonic-myopathy-and-leukopenia
#10
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
OBJECTIVES: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS: Case report. RESULTS: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28487747/a-predictive-model-for-guillain-barr%C3%A3-syndrome-based-on-single-learning-algorithms
#11
Juana Canul-Reich, Juan Frausto-Solís, José Hernández-Torruco
Background. Guillain-Barré Syndrome (GBS) is a potentially fatal autoimmune neurological disorder. The severity varies among the four main subtypes, named as Acute Inflammatory Demyelinating Polyneuropathy (AIDP), Acute Motor Axonal Neuropathy (AMAN), Acute Motor Sensory Axonal Neuropathy (AMSAN), and Miller-Fisher Syndrome (MF). A proper subtype identification may help to promptly carry out adequate treatment in patients. Method. We perform experiments with 15 single classifiers in two scenarios: four subtypes' classification and One versus All (OvA) classification...
2017: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/28487040/immediate-postpartum-neurological-deficits-in-the-lower-extremity-a-prospective-observational-study
#12
A Richards, T McLaren, M J Paech, E A Nathan, E Beattie, N McDonnell
BACKGROUND: Neurological deficits noted immediately after childbirth are usually various obstetric neuropathies, but prospective studies are limited. The main study aim was to quantify and describe immediate postpartum neurological deficits of the lower extremity, including the buttocks. METHODS: A prospective observational study of postpartum women delivering in a single maternity hospital during three months of 2016. Among 1147 eligible women, 1019 were screened for symptoms of lower extremity numbness or weakness within eight to 32hours of delivery...
April 8, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28483540/peripheral-nervous-system-involvement-in-systemic-lupus-erythematosus-prevalence-clinical-and-immunological-characteristics-treatment-and-outcome-of-a-large-cohort-from-a-single-centre
#13
REVIEW
Pilar Toledano, Ramón Orueta, Ignasi Rodríguez-Pintó, Josep Valls-Solé, Ricard Cervera, Gerard Espinosa
Disorders of peripheral nervous system in patients with systemic lupus erythematosus (PNS-SLE) are a major cause of morbidity. The aims of the present study were to determine the prevalence of PNS-SLE involvement in a large cohort of SLE patients from a single centre, to characterize such involvement, treatment modalities and outcome, and to identify the possible variables that may be associated with its presence. We performed an observational cross-sectional study that included all SLE patients being followed in our department between March and December 2015 who met at least one of the PNS-SLE case definitions proposed in 1999 by the American College of Rheumatology...
May 5, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28481421/immunomodulatory-treatment-other-than-corticosteroids-immunoglobulin-and-plasma-exchange-for-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#14
REVIEW
Mohamed Mahdi-Rogers, Ruth Brassington, Angela A Gunn, Pieter A van Doorn, Richard Ac Hughes
BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disease that causes progressive or relapsing and remitting weakness and numbness. It is probably caused by an autoimmune process. Immunosuppressive or immunomodulatory drugs would be expected to be beneficial. This review was first published in 2003 and has been updated most recently in 2016. OBJECTIVES: To assess the effects of immunomodulatory and immunosuppressive agents other than corticosteroids, immunoglobulin, and plasma exchange in CIDP...
May 8, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28479815/guillain-barre-syndrome-following-tuberculosis-a-rare-association
#15
Akshay Navalkishor Lakhotia, Dinesh Chouksey, Rahul Jain, Ajoy Kumar Sodani
The co-occurrence of Guillain-Barre syndrome (GBS) and tuberculosis is rare. Even in countries like India, where tuberculosis is common, there is only one case report of co-occurrence of GBS with tuberculosis. We report a case of GBS in association with sputum-positive pulmonary tuberculosis. The earliest treatment with intravenous immunoglobulin in acute motor axonal neuropathy variant of GBS would show good early recovery despite associated pulmonary tuberculosis.
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28476051/impaired-corneal-sensation-and-nerve-loss-in-a-type-2-rat-model-of-chronic-diabetes-is-reversible-with-combination-therapy-of-menhaden-oil-%C3%AE-lipoic-acid-and-enalapril
#16
Eric P Davidson, Lawrence J Coppey, Hanna Shevalye, Alexander Obrosov, Randy H Kardon, Mark A Yorek
PURPOSE: This study investigated the efficacy of monotherapy versus combination of menhaden oil, α-lipoic acid, and enalapril on corneal sensation and morphometry and other neuropathy-related endpoints in a rat model of type 2 diabetes. METHODS: Male Sprague-Dawley rats (aged 12 weeks) were fed a high-fat diet for 8 weeks followed by 30 mg/kg streptozotocin. After 16 weeks of hyperglycemia, 12-week treatments consisting of menhaden oil, α-lipoic acid, enalapril, or their combination were initiated...
June 2017: Cornea
https://www.readbyqxmd.com/read/28472865/electrophysiological-features-of-poems-syndrome-compared-to-mgus-related-neuropathy
#17
Hyunjin Kim, Young-Min Lim, Joo Yea Jin, Dok Hyun Yoon, Cheolwon Suh, Sun-Young Kim, Jae-Cheol Jo, Kwang-Kuk Kim
INTRODUCTION: Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome and monoclonal gammopathy of undetermined significance (MGUS) are paraproteinemic disorders that can cause demyelinating polyneuropathy. Here, we assessed the findings of nerve conduction studies (NCSs) in patients with POEMS syndrome and MGUS-related neuropathy to determine whether the NCS characteristics can help differentiate between the conditions. METHODS: We enrolled 24 POEMS and 37 MGUS-related neuropathy patients...
May 4, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28469666/anatomical-distributional-defects-in-mutant-genes-associated-with-dominant-intermediate-charcot-marie-tooth-disease-type-c-in-an-adenovirus-mediated-mouse-model
#18
SeoJin Lee, Sandesh Panthi, Hyun Woo Jo, Jaeyoung Cho, Min-Sik Kim, Na Young Jeong, In Ok Song, Junyang Jung, Youngbuhm Huh
Dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) is a dominantly inherited neuropathy that has been classified primarily based on motor conduction velocity tests but is now known to involve axonal and demyelination features. DI-CMTC is linked to tyrosyl-tRNA synthetase (YARS)-associated neuropathies, which are caused by E196K and G41R missense mutations and a single de novo deletion (153-156delVKQV). It is well-established that these YARS mutations induce neuronal dysfunction, morphological symptoms involving axonal degeneration, and impaired motor performance...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28442382/relationship-between-sensorimotor-peripheral-nerve-function-and-indicators-of-cardiovascular-autonomic-function-in-older-adults-from-the-health-aging-and-body-composition-study
#19
Brittney S Lange-Maia, Anne B Newman, John M Jakicic, Jane A Cauley, Robert M Boudreau, Ann V Schwartz, Eleanor M Simonsick, Suzanne Satterfield, Aaron I Vinik, Sasa Zivkovic, Tamara B Harris, Elsa S Strotmeyer
BACKGROUND: Age-related peripheral nervous system (PNS) impairments are highly prevalent in older adults. Although sensorimotor and cardiovascular autonomic function have been shown to be related in persons with diabetes, the nature of the relationship in general community-dwelling older adult populations is unknown. METHODS: Health, Aging and Body Composition participants (n=2399, age=76.5±2.9years, 52% women, 38% black) underwent peripheral nerve testing at the 2000/01 clinic visit...
April 22, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28440863/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#20
Aline Delva, Nimish Thakore, Erik Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods To describe the core clinical features of a syndrome of motor neuron disease associated with downbeat nystagmus, clinical features were collected from 6 patients. Results All patients had slowly progressive muscle weakness and wasting, in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
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