keyword
https://read.qxmd.com/read/37234784/whole-exome-genome-sequencing-in-cyclic-vomiting-syndrome-reveals-multiple-candidate-genes-suggesting-a-model-of-elevated-intracellular-cations-and-mitochondrial-dysfunction
#21
JOURNAL ARTICLE
Omri Bar, Laurie Ebenau, Kellee Weiner, Mark Mintz, Richard G Boles
OBJECTIVE: To utilize whole exome or genome sequencing and the scientific literature for identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine variant with paroxysmal nausea and vomiting. METHODS: A retrospective chart review of 80 unrelated participants, ascertained by a quaternary care CVS specialist, was conducted. Genes associated with paroxysmal symptoms were identified querying the literature for genes associated with dominant cases of intermittent vomiting or both discomfort and disability; among which the raw genetic sequence was reviewed...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37175987/genetic-profiling-of-sodium-channels-in-diabetic-painful-and-painless-and-idiopathic-painful-and-painless-neuropathies
#22
JOURNAL ARTICLE
Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Ślęczkowska, Patrick Lindsey, Bianca T A de Greef, Janneke G J Hoeijmakers, Erika Salvi, Ingemar S J Merkies, Maryam Ferdousi, Rayaz A Malik, Dan Ziegler, Kasper W J Derks, Gidon Boenhof, Filippo Martinelli-Boneschi, Daniele Cazzato, Raffaella Lombardi, Sulayman Dib-Hajj, Stephen G Waxman, Hubert J M Smeets, Monique M Gerrits, Catharina G Faber, Giuseppe Lauria, On Behalf Of The Propane Study Group
Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will lead to better disease management strategies, counselling and intervention. Our aims were to profile ten sodium channel genes (SCG) expressed in a nociceptive pathway in painful and painless DPN and painful and painless SFN patients, and to provide a perspective for clinicians who assess patients with painful peripheral neuropathy...
May 5, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37152360/efficacy-and-safety-of-vixotrigine-in-idiopathic-or-diabetes-associated-painful-small-fibre-neuropathy-convey-a-phase-2-placebo-controlled-enriched-enrolment-randomised-withdrawal-study
#23
JOURNAL ARTICLE
Catharina G Faber, Nadine Attal, Giuseppe Lauria, Robert H Dworkin, Roy Freeman, Katherine T Dawson, Helen Finnigan, Amirhossein Hajihosseini, Himanshu Naik, Michael Serenko, Christopher J Morris, Mona Kotecha
BACKGROUND: No pharmacological treatments are specifically indicated for painful small fibre neuropathy (SFN). CONVEY, a phase 2 enriched-enrolment study, evaluated the efficacy and safety of vixotrigine, a voltage- and use-dependent sodium channel blocker, in participants with idiopathic or diabetes-associated painful SFN. METHODS: CONVEY was a phase 2, multicentre, placebo-controlled, double-blind (DB), enriched-enrolment, randomised withdrawal study. The study was conducted at 68 sites in 13 countries (Europe and Canada) between May 17, 2018, and April 12, 2021...
May 2023: EClinicalMedicine
https://read.qxmd.com/read/37141832/ayurvedic-management-of-idiopathic-small-fibre-neuropathy-a-case-report
#24
Sushya Surendran, Mandip Goyal
Small fibre neuropathy (SFN) is a subgroup of peripheral neuropathy which is characterized by a disorder of the thin myelinated A-δ and unmyelinated C-fibres. With a prevalence of 52.95 per 100,000 population per year, the reported etiology of SFN has remained unclear in 23-93% of investigated patients and hence termed idiopathic small fibre neuropathy (iSFN). Pain is the most common symptom which is often described as burning. Conventional pain management is the only treatment option for iSFN, which is only modestly effective and associated with adverse events which lead to reduced drug compliance...
May 2, 2023: Journal of Ayurveda and Integrative Medicine
https://read.qxmd.com/read/37095784/interosseous-membrane-stimulation-a-treatment-for-painful-peripheral-neuropathy
#25
JOURNAL ARTICLE
Michael Freedman, Patricia Bierwirth
BACKGROUND: Painful peripheral neuropathy is a condition that may be associated with diabetes as well as other causes of neuropathy. Common treatments for the pain include topical application of capsaicin as well as using oral medications, typically gabapentin. The results are variable and rarely provide substantial lasting relief. CASES: This report describes how a simple and easy to perform acupuncture technique-interosseous membrane stimulation-was used to treat painful neuropathy in 3 patients: 1 with painful diabetic neuropathy; 1 with idiopathic painful neuropathy; and 1 with painful neuropathy caused by exposure to Agent Orange while serving in Vietnam...
April 1, 2023: Medical Acupuncture
https://read.qxmd.com/read/37060203/clinical-profile-of-autoimmune-nodopathy-with-anti-neurofascin-186-antibody
#26
JOURNAL ARTICLE
Bingyou Liu, Lei Zhou, Chong Sun, Longjie Wang, Yongsheng Zheng, Bin Hu, Kai Qiao, Chongbo Zhao, Jiahong Lu, Jie Lin
OBJECTIVE: Nodal/paranodal autoantibodies identified a group of peripheral neuropathies independent from chronic inflammatory demyelinating polyneuropathy (CIDP). However, nodopathy with antibody against neurofascin 186 (NF186) was rarely reported. We presented a cohort of patients with anti-NF186 antibody and described the clinical profile of them. METHODS: In this retrospective study, 195 patients diagnosed with CIDP and immune mediated idiopathic neuropathies were enrolled...
June 2023: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/36997315/advances-in-diagnosis-and-management-of-distal-sensory-polyneuropathies
#27
REVIEW
Matthew Silsby, Eva L Feldman, Richard D Dortch, Alison Roth, Simon Haroutounian, Yusuf A Rajabally, Steve Vucic, Michael E Shy, Anne Louise Oaklander, Neil G Simon
Distal sensory polyneuropathy (DSP) is characterised by length-dependent, sensory-predominant symptoms and signs, including potentially disabling symmetric chronic pain, tingling and poor balance. Some patients also have or develop dysautonomia or motor involvement depending on whether large myelinated or small fibres are predominantly affected. Although highly prevalent, diagnosis and management can be challenging. While classic diabetes and toxic causes are well-recognised, there are increasingly diverse associations, including with dysimmune, rheumatological and neurodegenerative conditions...
March 30, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/36970566/magnitude-of-the-potential-screening-gap-for-fabry-disease-in-manitoba-a-population-based-retrospective-cohort-study
#28
JOURNAL ARTICLE
Reid H Whitlock, Mohammad Nour-Mohammadi, Sarah Curtis, Paul Komenda, Clara Bohm, David Collister, Navdeep Tangri, Claudio Rigatto
BACKGROUND: Fabry disease is a rare disorder caused by the deficient activity of α-galactosidase A (GLA) that often leads to organ damage. Fabry disease can be treated with enzyme replacement or pharmacological therapy, but due to its rarity and nonspecific manifestations, it often goes undiagnosed. Mass screening for Fabry disease is impractical; however, a targeted screening program for high-risk individuals may uncover previously unknown cases. OBJECTIVE: Our objective was to use population-level administrative health databases to identify patients at high risk of Fabry disease...
2023: Canadian Journal of Kidney Health and Disease
https://read.qxmd.com/read/36934022/neurological-adverse-events-of-immune-checkpoint-inhibitors-an-update-of-clinical-presentations-diagnosis-and-management
#29
REVIEW
A Farina, M Villagrán-García, J Honnorat
The use of immune checkpoint inhibitors (ICIs) has represented a major advance in cancer treatment. By enhancing endogenous immune responses to destroy cancer cells, ICIs can cause immune-related adverse events (irAEs), with possible involvement of any organ system. IrAEs are frequent, particularly those involving the skin or the endocrine system, and usually completely reversible after temporary immunosuppression, while neurological irAEs (n-irAEs) are relatively rare, often severe, and they carry a considerable risk of mortality and long-term disability...
June 2023: Revue Neurologique
https://read.qxmd.com/read/36893151/contactin-1-links-autoimmune-neuropathy-and-membranous-glomerulonephritis
#30
JOURNAL ARTICLE
Janev Fehmi, Alexander J Davies, Marilina Antonelou, Stephen Keddie, Sonja Pikkupeura, Luis Querol, Emilien Delmont, Andrea Cortese, Diego Franciotta, Staffan Persson, Jonathan Barratt, Ruth Pepper, Filipa Farinha, Anisur Rahman, Diana Canetti, Janet A Gilbertson, Nigel B Rendell, Aleksandar Radunovic, Thomas Minton, Geraint Fuller, Sinead M Murphy, Aisling S Carr, Mary R Reilly, Filip Eftimov, Luuk Wieske, Charlotte E Teunissen, Ian S D Roberts, Neil Ashman, Alan D Salama, Simon Rinaldi
Membranous glomerulonephritis (MGN) is a common cause of nephrotic syndrome in adults, mediated by glomerular antibody deposition to an increasing number of newly recognised antigens. Previous case reports have suggested an association between patients with anti-contactin-1 (CNTN1)-mediated neuropathies and MGN. In an observational study we investigated the pathobiology and extent of this potential cause of MGN by examining the association of antibodies against CNTN1 with the clinical features of a cohort of 468 patients with suspected immune-mediated neuropathies, 295 with idiopathic MGN, and 256 controls...
2023: PloS One
https://read.qxmd.com/read/36872500/restless-legs-syndrome-and-periodic-limb-movements-of-sleep-from-neurophysiology-to-clinical-practice
#31
JOURNAL ARTICLE
Ioanna Kouri, Mithri R Junna, Melissa C Lipford
This article summarizes restless legs syndrome (RLS), periodic limb movements of sleep, and periodic limb movement disorder. RLS is a common sleep disorder with a prevalence of 5% to 15% in the general population. RLS can present in childhood, and incidence increases with age. RLS can be idiopathic or secondary to iron deficiency, chronic renal failure, peripheral neuropathy, and medications such as antidepressants (with higher rates for mirtazapine and venlafaxine, while bupropion may reduce symptoms at least in the short term), dopamine antagonists (neuroleptic antipsychotic agents and antinausea medications), and possibly antihistamines...
March 1, 2023: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://read.qxmd.com/read/36871045/a-comparative-blind-study-between-skin-biopsy-and-seed-amplification-assay-to-disclose-pathological-%C3%AE-synuclein-in-rbd
#32
JOURNAL ARTICLE
R Liguori, V Donadio, Z Wang, A Incensi, G Rizzo, E Antelmi, F Biscarini, F Pizza, Wq Zou, G Plazzi
To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies...
March 4, 2023: NPJ Parkinson's Disease
https://read.qxmd.com/read/36843566/statins-and-peripheral-neuropathy-in-diabetic-and-non-diabetic-cases-a-systematic-review
#33
JOURNAL ARTICLE
Mahla Daliri, Thomas P Johnston, Amirhossein Sahebkar
OBJECTIVES: Peripheral neuropathy (PN), as an adverse reaction attributed to statin drugs, as well as the beneficial neuroprotective properties of statins, have been widely reported and discussed in the literature. The aim of this study was to systematically review original publications that investigated the association of statin use and PN in diabetic and non-diabetic models, whether determined as a result of laboratory experimentation, or in a clinical setting. KEY FINDINGS: A comprehensive search of the databases Google Scholar, PubMed/MEDLINE and Scopus was conducted...
April 17, 2023: Journal of Pharmacy and Pharmacology
https://read.qxmd.com/read/36819654/pain-management-options-in-a-patient-with-livedoid-vasculopathy-and-peripheral-neuropathy
#34
JOURNAL ARTICLE
Nageshwari Palanisamy, Justine Chinnappan, Ghassan Bachuwa
UNLABELLED: Livedoid vasculopathy (LV) is a rare clinical condition presenting as painful lesions mostly on the lower extremities. We present a case of LV with peripheral neuropathy in a young man initially misdiagnosed and treated for cellulitis. He was started on aspirin, pentoxifylline and apixaban immediately after the diagnosis of LV. However, pain management was a real challenge for the clinicians. Hence, he was later treated with epoprostenol and amlodipine for vasodilation, steroids for any possible inflammation, and antibiotics to treat superimposed infection...
2023: European Journal of Case Reports in Internal Medicine
https://read.qxmd.com/read/36753892/rfc1-repeat-expansions-and-cerebellar-ataxia-neuropathy-and-vestibular-areflexia-syndrome-experience-and-perspectives-from-a-neuromuscular-disorders-unit
#35
JOURNAL ARTICLE
Daniel Sánchez-Tejerina, Paula Fernandez Alvarez, Elena Laínez, Victoria Gonzalez Martinez, Daniela Isabel Santa-Cruz, Lena Verdaguer, Margarida Gratacòs, Jose Luis Seoane, Núria Raguer, Jorge Hernández-Vara, Arnau Llauradó, Javier Sotoca, Maria Salvado, Elena Garcia Arumi, Eduardo F Tizzano, Raúl Juntas
INTRODUCTION: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system...
March 15, 2023: Journal of the Neurological Sciences
https://read.qxmd.com/read/36692512/no-difference-in-the-risk-of-amputation-or-frequency-of-surgical-interventions-between-patients-with-diabetic-charcot-arthropathy-and-those-without
#36
JOURNAL ARTICLE
Felix W A Waibel, Sabrina Weber, Farah Selman, Tobias Götschi, Martin C Berli, Thomas Böni, Madlaina Schöni
BACKGROUND: The cause of Charcot neuro-osteoarthropathy (CN) is diabetes in approximately 75% of patients. Most reports on the clinical course and complications of CN focus on diabetic CN, and reports on nondiabetic CN are scarce. No study, to our knowledge, has compared the clinical course of patients initially treated nonoperatively for diabetic and nondiabetic CN. QUESTIONS/PURPOSES: Among patients with CN, are there differences between patients with diabetes and those without in terms of (1) the frequency of major amputation as ascertained by a competing risks survivorship estimator; (2) the frequency of surgery as ascertained by a competing risks survivorship estimator; (3) frequency of reactivation, as above; or (4) other complications (contralateral CN development or ulcers)? METHODS: Between January 1, 2006, and December 31, 2018, we treated 199 patients for diabetic CN...
January 20, 2023: Clinical Orthopaedics and related Research
https://read.qxmd.com/read/36671992/clinical-and-neurophysiological-follow-up-of-chronic-inflammatory-demyelinating-polyneuropathy-patients-treated-with-subcutaneous-immunoglobulins-a-real-life-single-center-study
#37
JOURNAL ARTICLE
Paolo Alonge, Vincenzo Di Stefano, Antonino Lupica, Massimo Gangitano, Angelo Torrente, Antonia Pignolo, Bruna Maggio, Salvatore Iacono, Francesca Gentile, Filippo Brighina
BACKGROUND: chronic idiopathic demyelinating polyneuropathy (CIDP) is an acquired, immune-mediated neuropathy characterized by weakness, sensory symptoms and significant reduction or loss of deep tendon reflexes evolving over 2 months at least, associated with electrophysiological evidence of peripheral nerve demyelination. Recently, subcutaneous immunoglobulins (SCIg) have been introduced in clinical practice as a maintenance therapy for CIDP; nevertheless, electrophysiological and efficacy data are limited...
December 21, 2022: Brain Sciences
https://read.qxmd.com/read/36546668/mechanisms-behind-diffuse-idiopathic-peripheral-neuropathy-in-humans-a-systematic-review
#38
JOURNAL ARTICLE
Hanna Tufvesson, Viktor Hamrefors, Bodil Ohlsson
Introduction: Diffuse peripheral neuropathy is a well-known complication of several conditions, whereas many patients have peripheral neuropathy of unknown etiology and pathophyisology. Increased knowledge of mechanisms may provide insight into enteric neuropathy with gastrointestinal dysmotility. The aim of the present systematic review was to identify mechanisms behind diffuse idiopathic peripheral neuropathies in humans. Methods: Searches were performed in PubMed, Embase, and Web of Science. Human original and review articles, written in English, describing mechanisms behind diffuse peripheral neuropathy verified by objective examinations were intended to be studied...
December 22, 2022: Scandinavian Journal of Gastroenterology
https://read.qxmd.com/read/36504143/functional-and-structural-markers-of-peripheral-microvascular-autonomic-neuropathy
#39
JOURNAL ARTICLE
Thorsten K Rasmussen, Páll Karlsson, Nanna B Finnerup, Troels S Jensen, Jens R Nyengaard, Astrid J Terkelsen
INTRODUCTION/AIMS: Autonomic dysfunction is a common complication of small-fiber neuropathy (SFN). In this study we aimed to assess the applicability of autonomic microvascular indices as a potential marker for SFN assessment. METHODS: Fifteen patients with confirmed SFN (idiopathic neuropathy [n = 10], chemotherapy-induced peripheral neuropathy [n = 2], impaired glucose tolerance [n = 1], hereditary transthyretin amyloidosis (hATTR) [n = 1], pulmonary sarcoidosis [n = 1]) and 15 matched control subjects underwent assessment of vascular skin responses assessed through laser Doppler flowmetry and evaluation of microvascular vessel and nerve density in skin biopsies...
February 2023: Muscle & Nerve
https://read.qxmd.com/read/36457867/distinct-features-of-hypereosinophilic-syndrome-with-neuropathy-from-eosinophilic-granulomatosis-with-polyangiitis
#40
JOURNAL ARTICLE
Hiroki Takeuchi, Kazuyuki Kawamura, Teruaki Kawasaki, Nobuyuki Oka
BACKGROUND AND OBJECTIVES: Hypereosinophilic syndrome (HES) and eosinophilic granulomatosis with polyangiitis (EGPA) have overlapping clinical considerations, which frequently involve peripheral neuropathy. The current study aimed to discriminate between the clinicopathological features of HES and EGPA, focusing on the mechanism of peripheral nerve damage. METHODS: A total of 53 patients who underwent nerve biopsies at our laboratory were examined: nine patients with idiopathic HES (iHES), three patients with reactive HES, 14 patients with myeloperoxidase-anti-neutrophil cytoplasmic antibody (ANCA)-positive EGPA, and 27 patients with negative EGPA...
2022: Frontiers in Neurology
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