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https://www.readbyqxmd.com/read/29421957/neurologic-involvement-in-primary-immunodeficiency-disorders
#1
Mirac Yildirim, Deniz Cagdas Ayvaz, Bahadir Konuskan, Rahsan Gocmen, Ilhan Tezcan, Meral Topcu, Haluk Topaloglu, Banu Anlar
The nervous system may be affected in primary immune deficiency (PID) syndromes through infectious, autoimmune, neoplastic mechanisms, or as a primary feature of the syndrome. However certain neurologic problems do not conform to these etiopathogenetic groups. We retrospectively examined PID patients seen in neurology consultation between 2014 and 2017 in order to determine the spectrum of nervous system involvement. Among patients with confirmed neurologic problems (n = 35), common manifestations were encephalopathy and global developmental/cognitive delay...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29409479/orbital-radiotherapy-plus-three-wall-orbital-decompression-in-a-patient-with-rare-ocular-manifestations-of-thyroid-eye-disease-case-report
#2
Shuo Zhang, Yang Wang, Sisi Zhong, Xingtong Liu, Yazhuo Huang, Sijie Fang, Ai Zhuang, Yinwei Li, Jing Sun, Huifang Zhou, Xianqun Fan
BACKGROUND: Thyroid eye disease (TED) is a debilitating autoimmune orbital disease that is often a result of Graves' disease. Dysthyroid optic neuropathy (DON) is a rare but sight-threatening manifestation of TED with therapeutic challenges that can potentially lead to visual loss. CASE PRESENTATION: A 74-year-old man experienced active TED with extremely severe redness and swelling of the conjunctiva, loss of visual acuity and exacerbation of disfiguring proptosis...
February 6, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29392441/neurological-adverse-events-associated-with-immune-checkpoint-inhibitors-diagnosis-and-management
#3
REVIEW
Christophoros Astaras, Rita de Micheli, Bianca Moura, Thomas Hundsberger, Andreas F Hottinger
PURPOSE OF REVIEW: Immune checkpoint inhibitors represent a major step forward in the field of oncologic immunotherapy these last years and have significantly increased survival of cancer patients in an ever-growing number of indications. These agents block specific immune checkpoint molecules (programmed cell death protein 1 and its ligand as well as cytotoxic T-lymphocyte-associated antigen 4) that normally downregulate the immune response. These new agents show a specific range of adverse effects induced by abnormal immunologic activation...
February 1, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29375121/guillain-barr%C3%A3-syndrome-transverse-myelitis-and-infectious-diseases
#4
REVIEW
Yhojan Rodríguez, Manuel Rojas, Yovana Pacheco, Yeny Acosta-Ampudia, Carolina Ramírez-Santana, Diana M Monsalve, M Eric Gershwin, Juan-Manuel Anaya
Guillain-Barré syndrome (GBS) and transverse myelitis (TM) both represent immunologically mediated polyneuropathies of major clinical importance. Both are thought to have a genetic predisposition, but as of yet no specific genetic risk loci have been clearly defined. Both are considered autoimmune, but again the etiologies remain enigmatic. Both may be induced via molecular mimicry, particularly from infectious agents and vaccines, but clearly host factor and co-founding host responses will modulate disease susceptibility and natural history...
January 29, 2018: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/29367208/il-10-paradoxically-promotes-autoimmune-neuropathy-through-s1pr1-dependent-cd4-t-cell-migration
#5
Collin-Jamal Smith, Denise E Allard, Yan Wang, James F Howard, Stephanie A Montgomery, Maureen A Su
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a debilitating condition caused by autoimmune demyelination of peripheral nerves. CIDP is associated with increased IL-10, a cytokine with well-described anti-inflammatory effects. However, the role of IL-10 in CIDP is unclear. In this study, we demonstrate that IL-10 paradoxically exacerbates autoimmunity against peripheral nerves. In IL-10-deficient mice, protection from neuropathy was associated with an accrual of highly activated CD4+ T cells in draining lymph nodes and absence of infiltrating immune cells in peripheral nerves...
January 24, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29342325/the-neuromuscular-complications-of-immune-checkpoint-inhibitor-therapy
#6
REVIEW
Noah A Kolb, Christopher R Trevino, Waqar Waheed, Fatemeh Sobhani, Kara K Landry, Alissa A Thomas, Mike Hehir
Immune checkpoint inhibitor (ICPI) therapy unleashes the body's natural immune system to fight cancer. ICPIs improve overall cancer survival, however the unbridling of the immune system may induce a variety of immune related adverse events. Neuromuscular immune complications are rare but they can be severe. Myasthenia gravis and inflammatory neuropathy are the most common neuromuscular adverse events but a variety of others including inflammatory myopathy are reported. The pathophysiologic mechanism of these autoimmune disorders may differ from that of non-ICPI related immune diseases...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29326539/microvascular-outcomes-of-pediatric-onset-type-1-diabetes-mellitus-a-single-center-observational-case-reviews-in-sana-a-yemen
#7
Abdallah Ahmed Gunaid
Microvascular complications of pediatric-onset type 1 diabetes are common in low-income countries. In this study, we aimed at reviewing microvascular outcomes in 6 cases with type 1 diabetes over 14 to 31 years of follow-up. Severe proliferative diabetic retinopathy (PDR) and/or diabetic macular edema (maculopathy) (DME) and overt diabetic nephropathy (macroalbuminuria) were seen among 4 of 6 patients, whereas severe diabetic peripheral neuropathy with Charcot neuroarthropathy was seen in 1 patient only, who had the longest duration of follow-up...
2018: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/29313588/paraneoplastic-inverse-myasthenic-syndrome-as-a-presentation-of-bronchogenic-carcinoma
#8
G S Chowdhary, Malav Jhala
Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. In neurological paraneoplastic syndromes like Lambert Eaton Myasthenic syndrome associated with small cell lung cancer, evidence of autoimmunity against presynaptic neuro-muscular junction by anti voltage gated calcium channel anti bodies is well documented...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29306402/complex-hla-association-in-paraneoplastic-cerebellar-ataxia-with-anti-yo-antibodies
#9
Ryan P Hillary, Hanna M Ollila, Ling Lin, Virginie Desestret, Veronique Rogemond, Geraldine Picard, Mathilde Small, Isabelle Arnulf, Yves Dauvillers, Jerome Honnorat, Emmanuel Mignot
Anti-Yo paraneoplastic cerebellar degeneration (PCD) is a devastating autoimmune complication of gynecological cancers. We hypothesized that as for other autoimmune diseases, specific HLA haplotypes are associated. We conducted high resolution HLA typing of Class I/Class II in 40 cases versus ethnically matched controls. Three cases with anti-Yo antibodies and peripheral neuropathy were also included. We detected protective effects of DPA1*01:03~DPB1*04:01 (OR=0, p=0.0008), DRB1*04:01~DQA1*03:03(OR=0, p=0.0016) and DPA1*01:03~DPB1*04:01 (OR=0...
February 15, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29305816/autoimmune-autonomic-neuropathies-time-to-look-beyond-autoimmune-autonomic-ganglionopathy
#10
EDITORIAL
Srikanth Muppidi
No abstract text is available yet for this article.
January 5, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29280036/seronegative-autoimmune-autonomic-neuropathy-a-distinct-clinical-entity
#11
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/29260355/vestibular-impairment-in-chronic-inflammatory-demyelinating-polyneuropathy
#12
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/29248893/autoimmune-nodo-paranodopathies-of-peripheral-nerve-the-concept-is-gaining-ground
#13
REVIEW
Antonino Uncini, Jean-Michel Vallat
Peripheral neuropathies are classified as primarily demyelinating or axonal. Microstructural alterations of the nodal region are the key to understand the pathophysiology of neuropathies with antibodies to gangliosides and the new category of nodo-paranodopathy has been proposed to better characterise these disorders and overcome some inadequacies of the dichotomous classification. Recently, the research in autoimmune neuropathies has been boosted by reports of patients carrying immunoglobulin G4 antibodies against paranodal axo-glial proteins with distinct phenotypes and showing loss of transverse bands, terminal myelin loop detachment, nodal widening and axonal loss...
December 16, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29245299/the-introspection-on-the-diagnosis-and-treatment-process-of-a-case-of-guillain-barr%C3%A3-syndrome-gbs-attributed-to-systemic-lupus-erythematosus-sle-a-case-report
#14
Nan Zhang, Jie Cao, Meng Zhao, Li Sun
RATIONALE: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory connective tissue disorder. It may cause neurologic damage which is mainly characterized by central and mental system, while peripheral sexual damage is relatively rare in which Guillain-Barré Syndrome (GBS) as the first performance is more rare . GBS is an autoimmune peripheral neuropathy usually triggered by an antecedent bacterial or viral infection, with SLE being a rare cause. PATIENT CONCERNS: A 65-year-old male presented to the hospital with progressive numbness and adynamia in extremities...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29243035/systemic-lupus-erythematosus-and-ocular-involvement-an-overview
#15
REVIEW
Rosanna Dammacco
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease of undefined etiology and with remarkably heterogeneous clinical features. Virtually any organ system can be affected, including the eye. SLE-related eye involvement can be diagnosed in approximately one-third of the patients and is usually indicative of disease activity. An early diagnosis and the adoption of suitable therapeutic measures are necessary to prevent sight-threatening consequences, especially in patients with juvenile SLE. Periocular lesions, such as eyelid involvement and orbital inflammation, are relatively rare and, in case of orbital masses, may require a biopsy control...
December 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/29235746/clinical-problem-solving-a-tobacco-merchant-who-can-t-spit
#16
Sandra Benizri, Nancy Agmon-Levin, Noam D Kitrey, Dan Carter, Elinor Goshen, Yehonathan Sharabi
A 47 year old man presented with a combination of dry mouth and lightheadedness while standing. His medical background was unremarkable except for cigarette smoking and hyperlipidemia. Sjögren's syndrome was ruled out, and he was referred for evaluation of orthostatic hypotension, which by then included syncopal episodes and injuries. Additional symptoms included dry eyes, constipation, reduced sweating, and erectile dysfunction. After excluding medications and structural cardiac abnormalities as causes of orthostatic hypotension, a clinical autonomic evaluation was performed...
December 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29222126/autoimmune-crmp5-neuropathy-phenotype-and-outcome-defined-from-105-cases
#17
Divyanshu Dubey, Vanda A Lennon, Avi Gadoth, Sean J Pittock, Eoin P Flanagan, John E Schmeling, Andrew McKeon, Christopher J Klein
OBJECTIVE: To establish the phenotype and clinical outcomes of collapsin response-mediator protein-5 (CRMP5) autoimmune neuropathy in comparison with anti-neuronal nuclear antibody type 1 (ANNA1)-immunoglobulin G (IgG) neuropathy. METHODS: Patients with CRMP5-IgG and/or ANNA1-IgGs were identified in our service-line testing, and medical records were reviewed. RESULTS: One hundred five patients with CRMP5-IgG neuropathy (88% smokers; 69% having cancer, most commonly small cell lung cancer [75%]) were identified and compared to 51 patients with ANNA1-IgG neuropathy, 27 with coexisting CRMP5-IgG...
January 9, 2018: Neurology
https://www.readbyqxmd.com/read/29204447/effects-of-lncrna-bc168687-sirna-on-diabetic-neuropathic-pain-mediated-by-p2x7-receptor-on-sgcs-in-drg-of-rats
#18
Chenglong Liu, Jia Tao, Hui Wu, Yixin Yang, Qiang Chen, Zeyu Deng, Jiandi Liu, Changshui Xu
Diabetic neuropathic pain (DNP), one of the early symptoms of diabetic neuropathy, relates to metabolic disorders induced by high blood glucose, neurotrophic vascular ischemia and hypoxia, and autoimmune factors. This study was aimed at exploring the effects of long noncoding RNA (lncRNA) BC168687 siRNA on DNP mediated by P2X7 receptor on SGCs in DRG of rats. The mechanical withdrawal threshold (MWT) and thermal withdrawal latency (TWL) of rats, the expression levels of P2X7 mRNA and protein in the DRG, and nitric oxide (NO) in the serum were, respectively, detected in our study...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29201326/a-challenging-entity-multiple-sclerosis-or-collagen-tissue-disorders-a-case-series-of-6-patients
#19
Raida Ben Salah, Yosra Cherif, Faten Frikha, Dammak Chifaa, Mouna Snoussi, Moez Jallouli, Sameh Marzouk, Mhiri Chokri, Zouhir Bahloul
Background: Multiple sclerosis and other demyelinating processes are sometimes difficult to differentiate from the neurological involvement in autoimmune diseases. Distinguishing multiple sclerosis from other lesions due to autoimmune diseases is crucial to avoid unsuitable or delayed treatments. Methods: Charts of 6 patients diagnosed with mimicking multiple sclerosis between 1996 and 2014 were retrospectively assessed. Results: The mean age at diagnosis was 35±7 years...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29187518/neurofascin-antibodies-in-autoimmune-genetic-and-idiopathic-neuropathies
#20
Elisabeth Burnor, Li Yang, Hao Zhou, Kristina R Patterson, Colin Quinn, Mary M Reilly, Alexander M Rossor, Steven S Scherer, Eric Lancaster
OBJECTIVE: To measure the frequency, persistence, isoform specificity, and clinical correlates of neurofascin antibodies in patients with peripheral neuropathies. METHODS: We studied cohorts of patients with Guillain-Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 59), genetic neuropathy (n = 111), and idiopathic neuropathy (n = 43) for immunoglobulin (Ig) G and IgM responses to 3 neurofascin (NF) isoforms (NF140, NF155, and NF186) using cell-based assays...
January 2, 2018: Neurology
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