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Motor Neuropathy

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https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#1
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28326410/growth-of-an-intrapelvic-pseudotumor-associated-with-a-metal-on-metal-total-hip-arthroplasty-after-revision-arthroplasty-causing-a-femoral-nerve-neuropathy
#2
Patrick Leung, James C Kudrna
The development of pseudotumors is not uncommon with metal-on-metal total hip arthroplasty. Pseudotumors that dissect into the retroperitoneal space can cause symptoms of nerve compression. We describe a case of a 53-year-old male with a metal-on-metal total hip arthroplasty who developed mild symptoms of a femoral nerve neuropathy 6 years postoperatively. Revision arthroplasty to a ceramic-on-polyethylene articulation and debridement of the pseudotumor was performed. Postoperatively, the patient's femoral neuropathy progressed and a repeat magnetic resonance imaging showed an increase in size of the pseudotumor despite the removal of the offending metal-on-metal articulation...
September 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28324977/a-novel-method-to-assess-angle-sensor-performance-for-wearable-exoskeletal-joint-kinematics
#3
Nicholas B Bolus, Geza F Kogler, Omer T Inan
Full range of motion (ROM) at a joint is necessary for efficient and adaptive movement; as such, it is an essential clinical evaluation measure for assessing an individual's motor function, which can be affected by any number of musculoskeletal injuries and neuropathies. Measurement of joint ROM in the clinic has classically been accomplished statically through the use of a manual goniometer. More recent efforts in the fields of prosthetics and orthotics have demonstrated the potential utility of wearable systems (e...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324204/tibial-nerve-neuropathy-following-medial-opening-wedge-high-tibial-osteotomy-case-report-of-a-rare-technical-complication
#4
Young-Soo Shin, Hyun-Bo Sim, Jung-Ro Yoon
A 63-year-old woman developed tibial nerve injury caused by an overlong K wire and 4.5-mm cortical lag screw through the first distal hole below the osteotomy during medial opening-wedge high tibial osteotomy (HTO), leading to a lack of sensation on the sole of the foot with no disturbances in motor functions. The temporary lag screw in the first distal hole below the osteotomy is often inserted by an excessive length in order to compress the potentially fractured opposite cortex. By doing so, posterior neurovascular structures including the tibial nerve and the popliteal vessels can be injured...
March 21, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28320129/immunoglobulin-therapy-in-the-treatment-of-multifocal-motor-neuropathy
#5
REVIEW
Aditya Kumar, Huned S Patwa, Richard J Nowak
Multifocal motor neuropathy (MMN) is a chronic immune-mediated disorder leading to slowly progressive muscle weakness and wasting. Current treatments are aimed at modulating the immune system in order to avoid further decline and to maintain functional status. Intravenous immunoglobulin (IVIg) is widely used in the treatment of immune-mediated disorders and is the only treatment approved for MMN. While patients do remain stable with maintenance IVIg treatment, most patients will slowly deteriorate over many years...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319875/electrophysiologic-features-of-ulnar-neuropathy-in-childhood-and-adolescence
#6
Ioannis Karakis, Wendy Liew, Heather Szelag Fournier, H Royden Jones, Basil T Darras, Peter B Kang
OBJECTIVE: To analyze patterns of nerve injury in pediatric ulnar neuropathy (PUN). METHODS: Retrospective analysis of 49 children with PUN. RESULTS: Sensory loss in digit V was the prevailing complaint (89%). Predominant localization was at the elbow (55%). Diminished ulnar SNAP was the most common abnormality (71%) with median axon loss estimate (MAXE) of 62%. Dorsal ulnar cutaneous (DUC) sensory nerve action potential (SNAP) was reduced in 55% with MAXE of 43%...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28318780/surface-electromyogram-and-muscle-ultrasonography-for-detection-of-muscle-fasciculations-in-pediatric-peripheral-neuropathy
#7
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Masami Togawa, Chisako Fukuda, Yuko Saito, Ichizo Nishino, Yoshihiro Maegaki
A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28318734/effects-of-acetone-cyanohydrin-a-derivative-of-cassava-on-motor-activity-and-kidney-and-liver-function-in-wistar-rats
#8
E Rivadeneyra-Domínguez, C J Rosas-Jarquín, A Vázquez-Luna, R Díaz-Sobac, J F Rodríguez-Landa
INTRODUCTION: Acetone cyanohydrin (ACH) is a toxic substance present in cassava roots (Manihot esculenta Crantz) which results from enzymatic hydrolysis of linamarin. Long-term consumption is associated with 2 neurological disorders: konzo and tropical ataxic neuropathy. Previous studies have evaluated behavioural alterations linked to ACH consumption, but the toxic effects of this substance on physiological processes remain unknown. METHOD: 32 male Wistar rats were assigned to 4 experimental groups (n=8 per group): a vehicle group (0...
March 16, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28315720/the-protective-effect-of-the-active-components-of-erpc-on-diabetic-peripheral-neuropathy-in-rats
#9
Gai-Mei Hao, Yong-Gang Liu, Yan Wu, Wei Xing, Shu-Zhen Guo, Yong Wang, Zheng-Lin Wang, Chun Li, Tian-Tian Lv, Hong-Liang Wang, Tian-Jiao Shi, Wei Wang, Jing Han
ETHNOPHARMACOLOGICAL RELEVANCE: Euonymus alatus, Radix trichosanthis, Panax notoginseng and Coptis chinensis are popular plants used in traditional Chinese medicine to treat diabetes. AIM OF THE STUDY: The aim of the study is to investigate the therapeutic effect of the active components of Euonymus alatus, Radix trichosanthis, Panax notoginseng and Coptis chinensis (cERPC) on diabetic peripheral neuropathy in the rats and explore the underlying mechanism involved...
March 15, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28298847/subjective-symptoms-of-carpal-tunnel-syndrome-correlate-more-with-psychological-factors-than-electrophysiological-severity
#10
Firosh Khan, Abdulkhader Shehna, Sivaramakrishnan Ramesh, Kakkassery Sankaran Sandhya, Reji Paul
AIM: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and is one of the most common requests for electrodiagnosis. We aimed to note the relationship of subjective symptom severity of CTS, with objective electrophysiological severity and psychological status of patients. PATIENTS AND METHODS: One hundred and forty-four consecutive patients of CTS referred to neurophysiology laboratory of a tertiary care hospital over 1 year were prospectively studied...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#11
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#12
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28284349/4-aminopyridine-ameliorates-experimental-autoimmune-neuritis-in-lewis-rats
#13
Kota Moriguchi, Katsuichi Miyamoto, Susumu Kusunoki
We investigated the effect of 4-aminopyridine (4-AP) on experimental autoimmune neuritis (EAN) using a 4-AP-treated group in which 4-AP was administered in the diet, and a control group (n=10 per group). Electrophysiological and pathological assessment was performed in the sciatic nerve. The EAN clinical scores were significantly lower in the 4-AP-treated group than in the control group (p<0.05). The motor conductance velocity two weeks post-immunization was significantly higher in the 4-AP-treated group (p<0...
April 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28282710/early-onset-friedreich-s-ataxia-with-oculomotor-apraxia
#14
Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezaei
Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28269488/influence-of-force-feedback-on-grasp-force-modulation-in-prosthetic-applications-a-preliminary-study
#15
Sasha B Godfrey, Matteo Bianchi, Antonio Bicchi, Marco Santello
In typical movement, humans use a combination of feed-forward and feedback motor control strategies to interact with the world around them. However, when sensory input is impaired or absent, as in the case of various neuropathies or amputation, the ability to perform everyday tasks, like modulating grip force to object weight, can be affected. In this study, we show the results of a preliminary study using a pressure cuff-like force feedback device (CUFF) with the SoftHand Pro (SHP) prosthetic hand. Subjects lifted an object of various weights using their own hand, with the SHP without feedback, and the SHP with force feedback...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28264096/diagnostic-and-prognostic-biomarkers-in-amyotrophic-lateral-sclerosis-neurofilament-light-chain-levels-in-definite-subtypes-of-disease
#16
Alessandra Gaiani, Ilaria Martinelli, Luca Bello, Giorgia Querin, Marco Puthenparampil, Susanna Ruggero, Elisabetta Toffanin, Annachiara Cagnin, Chiara Briani, Elena Pegoraro, Gianni Sorarù
Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months...
March 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28263454/neuroplasticity-of-supraspinal-structures-associated-with-pathological-pain
#17
Pere Boadas-Vaello, Judit Homs, Francisco Reina, Anna Carrera, Enrique Verdú
Peripheral nerve and spinal cord injuries, along with other painful syndromes such as fibromyalgia, diabetic neuropathy, chemotherapeutic neuropathy, trigeminal neuralgia, complex regional pain syndrome, and/or irritable bowel syndrome, cause several neuroplasticity changes in the nervous system along its entire axis affecting the different neuronal nuclei. This paper reviews these changes, focusing on the supraspinal structures that are involved in the modulation and processing of pain, including the periaqueductal gray matter, red nucleus, locus coeruleus, rostral ventromedial medulla, thalamus, hypothalamus, basal ganglia, cerebellum, habenula, primary and secondary somatosensory cortex, motor cortex, mammillary bodies, hippocampus, septum, amygdala, cingulated and prefrontal cortex...
March 6, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28259276/comparison-of-ultrasound-guided-axillary-brachial-plexus-block-properties-in-diabetic-and-nondiabetic-patients-a-prospective-observational-study
#18
Emine Aysu Salviz, Sukru Onbasi, Anil Ozonur, Mukadder Orhan-Sungur, Omer Berkoz, Kamil Mehmet Tugrul
PURPOSE: Patients with diabetes mellitus (DM) type 2 may have subclinical peripheral nerve neuropathy. We performed this study to compare the differences in duration of axillary brachial plexus blocks in patients with type 2 DM and without DM (NODM). Our hypothesis was that the sensory block duration would be prolonged in patients with DM. METHODS: A total of 71 patients who were scheduled for elective forearm and/or hand surgery were enrolled in this study. Before surgery, they received ultrasound-guided axillary brachial plexus blocks with a mixture of 10 mL lidocaine 2% and 20 mL bupivacaine 0...
March 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28258016/primary-axillary-venous-aneurysm-associated-with-local-neurological-complications
#19
David Malem, Haider Khan Bangash, Bibombe Patrice Mwipatayi
Primary axillary venous aneurysms are rare, and there are only a handful of cases reported previously. The patient can be either asymptomatic or symptomatic, and can present with local axillary swelling, dilated venules in overlying skin associated with local discomfort, peripheral neuropathy, or pulmonary embolisms. A 30-year-old man presented with a four-month history of an uncomfortable lump in his left armpit that was associated with paraesthesia radiating down to his left forearm and hand. He had no history of arm swelling and had a normal motor neurological examination...
February 28, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28252606/-diabetic-asymmetric-proximal-neuropathy
#20
S V Kotov, I G Rudakova, E V Isakova, Yu A Belova, T V Volchenkova, M Khirbek, G A Stashuk
AIM: To study the prevalence, clinical features and treatment of diabetic asymmetric proximal neuropathy (DAPN). MATERIAL AND METHODS: Four hundred and forty-five patients with diabetes mellitus (DM), 257 women and 188 men, mean age 47.6±0.5 years, including 163 patients with DM type I and 282 with DM type II, were examined. RESULTS AND CONCLUSION: Distal symmetric sensory motor polyneuropathy was found in 62% of the patients, autonomic neuropathy in 25...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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