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Sensory neuropathy

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https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#1
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#2
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341343/small-heat-shock-protein-b3-hspb3-mutation-in-an-axonal-charcot-marie-tooth-disease-family
#3
Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung-Ok Choi, Ki Wha Chung
HSPB3 gene encodes a small heat-shock protein 27-like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot-Marie-Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha-crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29340058/a-multicenter-prospective-phase-ii-study-of-first-line-modified-folfirinox-for-unresectable-advanced-pancreatic-cancer
#4
Kensaku Yoshida, Takuji Iwashita, Shinya Uemura, Akinori Maruta, Mitsuru Okuno, Nobuhiro Ando, Keisuke Iwata, Junji Kawaguchi, Tsuyoshi Mukai, Masahito Shimizu
Background: FOLFIRINOX (FX) has been reported as an effective treatment for unresectable advanced pancreatic cancer. However, FX is associated with a high incidence of adverse events (AEs). A previous phase II study in Japan showed high incidences of hematological AEs, including febrile neutropenia (22.2%). A modified FX regimen (mFX) may decrease the rates of AEs and be more effective than FX by improving the treatment compliance. Aims: To assess the safety and efficacy of first-line mFX for unresectable advanced pancreatic cancer...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29329103/analysis-of-anti-ganglioside-antibodies-by-a-line-immunoassay-in-patients-with-chronic-inflammatory-demyelinating-polyneuropathies-cidp
#5
Juliane Klehmet, Stefanie Märschenz, Klemens Ruprecht, Benjamin Wunderlich, Thomas Büttner, Rico Hiemann, Dirk Roggenbuck, Andreas Meisel
BACKGROUND: Unlike for acute immune-mediated neuropathies (IN), anti-ganglioside autoantibody (aGAAb) testing has been recommended for only a minority of chronic IN yet. Thus, we used a multiplex semi-quantitative line immunoassay (LIA) to search for aGAAb in chronic-inflammatory demyelinating polyneuropathy (CIDP) and its clinical variants. METHODS: Anti-GAAb to 11 gangliosides and sulfatide (SF) were investigated by LIA in 61 patients with IN (27 typical CIDP, 12 distal-acquired demyelinating polyneuropathy, 6 multifocal-acquired demyelinating sensory/motor polyneuropathy, 10 sensory CIDP, 1 focal CIDP and 5 multifocal-motoric neuropathy), 40 with other neuromuscular disorders (OND) (15 non-immune polyneuropathies, 25 myasthenia gravis), 29 with multiple sclerosis (MS) and 54 healthy controls (HC)...
January 12, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29323138/whole-mount-adult-ear-skin-imaging-reveals-defective-neuro-vascular-branching-morphogenesis-in-obese-and-type-2-diabetic-mouse-models
#6
Tomoko Yamazaki, Wenling Li, Ling Yang, Ping Li, Haiming Cao, Sei-Ichiro Motegi, Mark C Udey, Elise Bernhard, Takahisa Nakamura, Yoh-Suke Mukouyama
Obesity and type 2 diabetes are frequently associated with peripheral neuropathy. Though there are multiple methods for diagnosis and analysis of morphological changes of peripheral nerves and blood vessels, three-dimensional high-resolution imaging is necessary to appreciate the pathogenesis with an anatomically recognizable branching morphogenesis and patterning. Here we established a novel technique for whole-mount imaging of adult mouse ear skin to visualize branching morphogenesis and patterning of peripheral nerves and blood vessels...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29320913/a-phase-2-study-of-rituximab-cyclophosphamide-bortezomib-and-dexamethasone-r-cybord-in-relapsed-low-grade-and-mantle-cell-lymphoma
#7
Mohamad Bassam Sonbol, Talal Hilal, Amylou C Dueck, Allison C Rosenthal, Christopher R Conley, Heidi E Kosiorek, Brenda F Ginos, Katherine M Gano, Craig S Nichols, Jose F Leis, Patrick B Johnston, Thomas M Habermann, Donald W Northfelt, Peter Leif Bergsagel, David J Inwards, Thomas E Witzig, Stephen M Ansell, Craig B Reeder
In this phase 2 trial, we sought to evaluate the efficacy and safety of rituximab, cyclophosphamide, bortezomib, and dexamethasone (R-CyBorD) in patients with low-grade NHL. The regimen included rituximab on day 1 with weekly cyclophosphamide, dexamethasone, and bortezomib 1.3 mg/m2 IV in a 28-day cycle. Twenty one patients were enrolled on the study. Median age was 69 years (range 51-80) and 17 (81%) patients had two or more prior treatments. Histologies included FL (n = 8), MCL (n = 8), and LPL/WM (n = 5)...
January 10, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29316888/the-preventive-effect-of-sensorimotor-and-vibration-exercises-on-the-onset-of-oxaliplatin-or-vinca-alkaloid-induced-peripheral-neuropathies-stop
#8
Fiona Streckmann, Maryam Balke, Helmar C Lehmann, Vanessa Rustler, Christina Koliamitra, Thomas Elter, Michael Hallek, Michael Leitzmann, Tilman Steinmetz, Petra Heinen, Freerk T Baumann, Wilhelm Bloch
BACKGROUND: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and clinically relevant side effect of chemotherapy. Approximately 50% of all leukemia, lymphoma, colorectal- and breast cancer patients are affected. CIPN is induced by neurotoxic chemotherapeutic agents and can manifest with sensory and/or motor deficits. It is associated with significant disability and poor recovery. Common symptoms include pain, altered sensation, reduced or absent reflexes, muscle weakness, reduced balance control and insecure gait...
January 10, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29316033/peripheral-nerves-are-pathologically-small-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-a-controlled-ultrasound-study
#9
Luciana Pelosi, Eoin Mulroy, Ruth Leadbetter, Dean Kilfoyle, Andrew M Chancellor, Stuart Mossman, Laurie Wing, Teddy Y Wu, Richard H Roxburgh
BACKGROUND: Sensory neuronopathy is a cardinal feature of Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these CANVAS patients and seven healthy controls...
January 5, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29306589/oxidative-stress-dependent-mmp-13-activity-underlies-glucose-neurotoxicity
#10
Ashley L Waldron, Patricia A Schroder, Kelly L Bourgon, Jessie K Bolduc, James L Miller, Adriana D Pellegrini, Amanda L Dubois, Magdalena Blaszkiewicz, Kristy L Townsend, Sandra Rieger
BACKGROUND: A complication of diabetes is neuropathy, a condition of sensory axon degeneration that originates in the epidermis. The mechanisms remain unknown but reactive oxygen species (ROS) have been implicated in this condition. In this study, we assessed the role of ROS and a candidate downstream target, MMP-13 in glucose-induced sensory axon degeneration in zebrafish and mice. METHODS: The effects of glucose on metabolism and sensory axon degeneration were assessed using qPCR and live imaging...
December 6, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29299392/rapid-neurophysiological-screening-for-sensory-ganglionopathy-a-novel-approach
#11
Panagiotis Zis, Marios Hadjivassiliou, Ptolemaios Georgios Sarrigiannis, Alexander St John Edward Barker, Dasappaiah Ganesh Rao
Background and Aim: Pure sensory neuropathies involving the dorsal root ganglia are commonly referred to as sensory ganglionopathies (SG). Causes of SG can be inherited (as seen in Friedreich's ataxia) or acquired (e.g. immune-mediated or paraneoplastic). Diagnostic criteria for confirming SG have been published and consist of a combination of clinical and neurophysiological parameters. The aim of our study was to develop a neurophysiological method for rapid screening for diagnosis of SG...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29298279/severe-chronic-lithium-intoxication-in-patient-treated-for-bipolar-disorder
#12
Ivana Stetkarova, Vaclav Bocek, Alsu Gismatullina, Zuzana Svobodova, Tomas Peisker
OBJECTIVE: Lithium has been long used in psychiatry as an adjuvant treatment for bipolar disorder. Chronic lithium intoxication is very rare. DESIGN: We present the case of a 72-year-old female, treated with lithium for more than 10 years for bipolar disorder, who was admitted for gait impairment with weakness of limbs, myoclonus, speech impairment and memory disturbances. RESULTS: Diagnosis of lithium intoxication was based on clinical picture and determination of serum lithium levels...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#13
Joel V Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G Macefield, Lucy Norcliffe-Kaufmann
OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29280036/seronegative-autoimmune-autonomic-neuropathy-a-distinct-clinical-entity
#14
Elisabeth P Golden, Meredith A Bryarly, Steven Vernino
PURPOSE: Autoimmune autonomic ganglionopathy (AAG) is associated with ganglionic acetylcholine receptor (gAChR) antibodies. We describe a similar but distinct series of patients with autoimmune autonomic failure lacking this antibody. METHODS: Retrospective chart review. RESULTS: Six patients presented with subacute autonomic failure, seronegative for gAChR antibodies. Orthostatic hypotension and gastrointestinal complaints were common. Autonomic testing revealed predominant sympathetic failure and no premature pupillary redilation...
December 26, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29277966/role-of-inflammatory-biomarker-in-diabetic-peripheral-neuropathy
#15
Heung Yong Jin, Tae Sun Park
Diabetic peripheral neuropathy (DPN) is the most common chronic neurological complication of diabetes1 . Small and large peripheral nerve fibers may be involved in DPN. Large nerve fiber damage causes paresthesia, sensory loss, and muscle weakness and small nerve fiber damage is associated with pain, anesthesia, foot ulcer, and autonomic symptoms. However, the exact pathogenic mechanisms and diagnostic criteria for DPN are not firmly established currently. The present DPN prevention, diagnosis, and treatment strategies are incomplete and unsuccessful due to the various pathogenesis of systemic and cellular disturbance in glucose and lipid metabolism...
December 26, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#16
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented...
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29260355/vestibular-impairment-in-chronic-inflammatory-demyelinating-polyneuropathy
#17
Gülden Akdal, Tural Tanrıverdizade, İhsan Şengün, Fikret Bademkıran, Koray Koçoğlu, Ayşe Nur Yüceyar, Özgül Ekmekçi, Hatice Karasoy, G Michael Halmágyi
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a common, treatable, autoimmune peripheral neuropathy considered to produce imbalance by weakness and proprioceptive impairment rather than vestibular impairment. We measured semicircular canal vestibular function in 21 CIDP patients (15M/6F) by the video head impulse test and postural stability with a battery comprising the modified Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, the Dynamic Gait Index, the Fall Efficiency Scale, and the International Cooperative Ataxia Rating Scale...
December 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29258553/prenatal-alcohol-exposure-is-a-risk-factor-for-adult-neuropathic-pain-via-aberrant-neuroimmune-function
#18
Joshua J Sanchez, Shahani Noor, Suzy Davies, Daniel Savage, Erin D Milligan
BACKGROUND: Clinical studies show that prenatal alcohol exposure (PAE) results in effects that persist into adulthood. Experimental animal models of moderate PAE demonstrate that young adults with PAE display potentiated sensitivity to light touch, clinically termed allodynia, following sciatic nerve chronic constriction injury (CCI) that coincides with heightened spinal glial, spinal macrophage, and peripheral immune responses. However, basal touch sensitivity and corresponding glial and leukocyte activation are unaltered...
December 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29249584/planned-safety-analysis-of-the-acts-cc-02-trial-a-randomized-phase-iii-trial-of-s-1-with-oxaliplatin-versus-tegafur-and-uracil-with-leucovorin-as-adjuvant-chemotherapy-for-high-risk-stage-iii-colon-cancer
#19
Tetsuya Kusumoto, Eiji Sunami, Mitsuyoshi Ota, Kazuhiro Yoshida, Yoshiyuki Sakamoto, Naohiro Tomita, Atsuyuki Maeda, Izumi Mochizuki, Michio Okabe, Katsuyuki Kunieda, Junichiro Yamauchi, Michio Itabashi, Kenjiro Kotake, Keiichi Takahashi, Hideo Baba, Narikazu Boku, Keisuke Aiba, Megumi Ishiguro, Satoshi Morita, Kenichi Sugihara
BACKGROUND: This trial was designed to verify the superiority of 6 months of postoperative adjuvant chemotherapy with SOX (S-1 with oxaliplatin) with UFT (tegafur and uracil) with LV (leucovorin) in terms of disease-free survival in patients with high-risk stage III colon cancer. We report the results of a planned safety analysis. PATIENTS AND METHODS: Patients who underwent curative resection for high-risk stage III colon cancer (any T, N2, or positive nodes around the origin of the feeding arteries) were randomly assigned to receive either UFT/LV (300-600 mg/d UFT with 75 mg/d LV on days 1-28, every 35 days, for 5 cycles) or SOX (100 mg/m2 of oxaliplatin on day 1 with 80-120 mg/d S-1 on days 1-14, every 21 days, for 8 cycles)...
November 1, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29246775/coronary-ectasia-in-amyloid-cardiomyopathy-and-neuropathy-due-to-the-transthyretin-mutation-c-323a-g
#20
Josef Finsterer, Claudia Stöllberger, Helmut Rauschka, Edmund Gatterer
BACKGROUND: atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA. METHODS AND RESULTS: A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative...
December 12, 2017: Heart & Lung: the Journal of Critical Care
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