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Small fiber neuropathy

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https://www.readbyqxmd.com/read/28063170/assessing-mnis-7ionis-and-international-neurologists-proficiency-in-an-fap-trial
#1
Peter J Dyck, John C Kincaid, P James B Dyck, Vinay Chaudhry, Namita A Goyal, Christina Alves, Hayet Salhi, Janice F Wiesman, Celine Labeyrie, Jessica Robinson-Papp, Márcio Cardoso, Matilde Laura, Katherine Ruzhansky, Andrea Cortese, Thomas H Brannagan, Julie Khoury, Sami Khella, Márcia Waddington-Cruz, João Ferreira, Annabel K Wang, Marcus V Pinto, Samar S Ayache, Merrill D Benson, John L Berk, Teresa Coelho, Michael Polydefkis, Peter Gorevic, David H Adams, Violaine Plante-Bordeneuve, Carol Whelan, Giampaolo Merlini, Stephen Heitner, Brian M Drachman, Isabel Conceição, Christopher J Klein, Morie A Gertz, Elizabeth J Ackermann, Steven G Hughes, Michelle L Mauermann, Rito Bergemann, Karen A Lodermeier, Jenny L Davies, Rickey E Carter, William J Litchy
INTRODUCTION: Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial. METHODS: We assessed: 1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and 2) clinometric performance of mNIS+7Ionis and its subscores and correlation with disability and health scores...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#2
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27922760/nervecheck-for-the-detection-of-sensory-loss-and-neuropathic-pain-in-diabetes
#3
Georgios Ponirakis, Maria N Odriozola, Samantha Odriozola, Ioannis N Petropoulos, Shazli Azmi, Maryam Ferdousi, Hassan Fadavi, Uazman Alam, Andrew Marshall, Maria Jeziorska, Anthony Miro, Ahmad Kheyami, Mitra Tavakoli, Ahmed Al-Ahmar, Maria B Odriozola, Ariel Odriozola, Rayaz A Malik
BACKGROUND: Accurate and economic detection of nerve damage in diabetes is key to more widespread diagnosis of patients with diabetic peripheral neuropathy (DPN) and painful diabetic neuropathy. This study examined the diagnostic performance of NerveCheck, an inexpensive ($500) quantitative sensory testing (QST) device. METHODS: One hundred forty-four subjects (74 with and 70 without diabetes) underwent assessment with NerveCheck, neuropathy disability score (NDS), nerve conduction studies (NCS), intraepidermal and corneal nerve fiber density (IENFD and CNFD), and McGill questionnaire for neuropathic pain...
December 2016: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/27913968/post-ganglionic-autonomic-neuropathy-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#4
E Fileccia, R Rinaldi, R Liguori, A Incensi, R D'Angelo, M P Giannoccaro, V Donadio
PURPOSE: Antibodies to glutamic acid decarboxylase (GAD-Abs) have been associated with several conditions, rarely involving the autonomic nervous system. Here, we describe two patients complaining of autonomic symptoms in whom a post-ganglionic autonomic neuropathy has been demonstrated in association with significantly elevated serum and CSF GAD-Abs levels. METHODS: Patients underwent nerve conduction studies, sympathetic skin response testing, evaluation of autonomic control of the cardiovascular system and skin biopsy...
December 2, 2016: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/27906877/association-between-small-fiber-neuropathy-and-higher-skin-accumulation-of-advanced-glycation-end-products-in-patients-with-type-1-diabetes
#5
Aleksandra Araszkiewicz, Agnieszka Gandecka, Michał Nowicki, Aleksandra Uruska, Agnieszka Malińska, Katarzyna Kowalska, Bogna Wierusz-Wysocka, Dorota Zozulińska-Ziółkiewicz
INTRODUCTION Advanced glycation end products (AGEs) play a crucial role in the pathogenesis of diabetic peripheral neuropathy (DPN). OBJECTIVES The aim of the study was to assess the skin accumulation of AGEs in patients with long‑lasting type 1 diabetes in relation to the presence of DPN. PATIENTS AND METHODS We evaluated 178 patients with type 1 diabetes (99 men; age, 43 years [interquartile range [IQR], 34-54 years]; disease duration, 25 years [IQR, 18-31 years]). DPN was diagnosed if 2 or more of the following 5 abnormalities were present: symptoms of neuropathy, lack of ankle reflexes, and impaired sensation of touch, temperature, and/or vibration...
November 22, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27898216/characterization-of-prostacyclin-associated-leg-pain-in-patients-with-pulmonary-arterial-hypertension
#6
Gabriel L Pagani-Estévez, Keith M Swetz, Michael D McGoon, Robert P Frantz, Susan K Tointon, Ann M Karnyski, Louise A Durst, James C Watson
RATIONALE: Prostacyclin-associated leg pain is a potentially debilitating adverse effect of prostacyclin therapy for patients with pulmonary arterial hypertension (PAH). However, to our knowledge, this entity has not been systematically studied. OBJECTIVE: To characterize the clinical features and metabolic risk factors for prostacyclinassociated leg pain. METHODS: At one academic medical center we assembled and analyzed a case series of patients with PAH and prostacyclin-associated leg pain...
November 29, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27871444/polyneuropathy-in-levodopa-treated-parkinson-s-patients
#7
Karol Szadejko, Krzysztof Dziewiatowski, Krzysztof Szabat, Piotr Robowski, Michał Schinwelski, Emilia Sitek, Jarosław Sławek
Recently published studies show that the prevalence of polyneuropathy (PNP) is higher in patients with Parkinson's disease (PD) than in age-matched controls. Its pathogenesis, however is a matter of controversy. The major hypothesis is the toxicity of high concentrations of homocysteine (Hcy) possibly related to levodopa (LD) therapy. The aim of the present study was to determine the prevalence of PNP, independent of other etiologies, and to determine the relationship to demographic and clinical factors in LD-treated Parkinson's patients...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27866728/what-is-new-in-2015-in-dysimmune-neuropathies
#8
REVIEW
T Kuntzer
This review discusses and summarizes the concept of nodopathies, the diagnostic features, investigations, pathophysiology, and treatment options of chronic inflammatory demyelinating polyradiculoneuropathy, and gives updates on other inflammatory and dysimmune neuropathies such as Guillain-Barré syndrome, sensory neuronopathies, small-fiber-predominant ganglionitis, POEMS syndrome, neuropathies associated with IgM monoclonal gammopathy and multifocal motor neuropathy. This field of research has contributed to the antigenic characterization of the peripheral motor and sensory functional systems, as well as helping to define immune neuropathic syndromes with widely different clinical presentation, prognosis and response to therapy...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27851774/skin-globotriaosylceramide-3-load-is-increased-in-men-with-advanced-fabry-disease
#9
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer
BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity. METHODS: At our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls...
2016: PloS One
https://www.readbyqxmd.com/read/27824912/laser-doppler-flare-imaging-and-quantitative-thermal-thresholds-testing-performance-in-small-and-mixed-fiber-neuropathies
#10
Alon Abraham, Majed Alabdali, Abdulla Alsulaiman, Ari Breiner, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Bruce A Perkins, Vera Bril
INTRODUCTION: Small fiber neuropathy might be a part of typical mixed small and large fiber neuropathy, or a distinct entity, affecting exclusively small nerve fibers. OBJECTIVES: Explore the utility of small nerve fiber testing in patients with clinical presentation suggesting small fiber neuropathy, with and without evidence for concomitant large fiber neuropathy. METHODS: Patients attending the neuromuscular clinic from 2012 to 2015 with a clinical presentation suggesting small nerve fiber impairment, who had Laser Doppler flare imaging (LDIFlare) and quantitative thermal testing (QTT) were evaluated for this study...
2016: PloS One
https://www.readbyqxmd.com/read/27821467/a-painful-neuropathy-associated-nav1-7-mutant-leads-to-time-dependent-degeneration-of-small-diameter-axons-associated-with-intracellular-ca2-dysregulation-and-decrease-in-atp-levels
#11
Harshvardhan Rolyan, Shujun Liu, Janneke Gj Hoeijmakers, Catharina G Faber, Ingemar Sj Merkies, Giuseppe Lauria, Joel A Black, Stephen G Waxman
Small fiber neuropathy is a painful sensory nervous system disorder characterized by damage to unmyelinated C- and thinly myelinated Aδ- nerve fibers, clinically manifested by burning pain in the distal extremities and dysautonomia. The clinical onset in adulthood suggests a time-dependent process. The mechanisms that underlie nerve fiber injury in small fiber neuropathy are incompletely understood, although roles for energetic stress have been suggested. In the present study, we report time-dependent degeneration of neurites from dorsal root ganglia neurons in culture expressing small fiber neuropathy-associated G856D mutant Nav1...
2016: Molecular Pain
https://www.readbyqxmd.com/read/27794111/schwann-cell-and-endothelial-cell-damage-in-transthyretin-familial-amyloid-polyneuropathy
#12
Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Yohei Misumi, Yukio Ando, Shu-Ichi Ikeda, Masahisa Katsuno, Gen Sobue
OBJECTIVE: To examine the morphology of Schwann cells and endoneurial microvessels with electron microscopy. METHODS: Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed. Patients included 11 early-onset cases from endemic foci and 38 late-onset cases from nonendemic areas. RESULTS: Loss of nerve fibers with or without neighboring amyloid deposition was a common feature...
October 28, 2016: Neurology
https://www.readbyqxmd.com/read/27781142/pathological-nociceptors-in-two-patients-with-erythromelalgia-like-symptoms-and-rare-genetic-nav-1-9-variants
#13
Inge P Kleggetveit, Roland Schmidt, Barbara Namer, Hugh Salter, Tormod Helås, Martin Schmelz, Ellen Jørum
INTRODUCTION: The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclear. METHODS: C-nociceptors from two patients with late onset of erythromelalgia-like pain, signs of small fiber neuropathy, and rare genetic variants of Nav 1.9 (N1169S, I1293V) were assessed by microneurography. RESULTS: Compared with patients with comparable pain phenotypes (erythromelalgia-like pain without Nav-mutations and painful polyneuropathy), there was a tendency toward more activity-dependent slowing of conduction velocity in mechanoinsensitive C-nociceptors...
October 2016: Brain and Behavior
https://www.readbyqxmd.com/read/27743736/effects-of-small-fiber-neuropathy-induced-by-resiniferatoxin-on-skin-healing-and-axonal-regrowth-after-burn
#14
Betty Laverdet, Dorothée Girard, Audrey Bayout, Nelly Bordeau, Claire Demiot, Alexis Desmoulière
BACKGROUND: Damage to the peripheral nervous system influences wound healing and, after a deep burn, imperfect cutaneous nerve regeneration occurs. A third-degree burn model was developed in rats combined with the use of resiniferatoxin (RTX), known to promote sensory neuropathy. METHODS: Rats were injected intraperitoneally either with RTX or vehicle. A mechanical sensory assay and the hot plate thermal sensory test were performed. The structural integrity of the sciatic nerve was assessed using transmission electron microcopy...
October 12, 2016: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/27730494/intraepidermal-nerve-fiber-density-diagnostic-and-therapeutic-relevance-in-the-management-of-chronic-pruritus-a-review
#15
REVIEW
Manuel P Pereira, Sebastian Mühl, Esther M Pogatzki-Zahn, Konstantin Agelopoulos, Sonja Ständer
In recent years, measurement of the intraepidermal nerve fiber (IENF) density has gained relevance in the diagnostics of chronic pruritus. This method allows the objectification and quantification of a small-fiber neuropathy, which may manifest clinically with pruritus, pain or dysesthetic sensory symptoms, such as burning, stinging and tingling sensations or numbness. Upon suspicion of a small-fiber neuropathy as a cause for chronic pruritus, targeted diagnostic procedures are essential for the early detection of the neuroanatomical changes...
December 2016: Dermatology and Therapy
https://www.readbyqxmd.com/read/27676848/neurotropism-of-arboviruses-seen-by-a-physiatric-view-martiniquaises-experiences-through-epidemics-of-dengue-chikungunya-and-zika
#16
José-Luis Barnay, Andre Cabie, Sylvie Abel, Emilie Javelle, Odile Troisgros, Patrick René-Corail
Arboviruses cause very recurrent epidemics, the oldest Dengue, known especially outside the flu-like syndrome with high fever mainly impacting vulnerable populations, may be responsible for severe hemorrhagic fevers, but also a few cases of Guillain-Barré syndrome. In 2014, the French Antilles occurred an outbreak of Chikungunya, following that of the Reunion's outbreak. During this period have been described, the articular and musculo-squellettic lesions, responsible for loss of autonomy in populations already carriers of chronic inflammatory joint damage or mechanical, but also a heavy impact on the autonomy of elderly and frail people...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27660061/small-fiber-neuropathy-in-children-two-case-reports-illustrating-the-importance-of-recognition
#17
Janneke G J Hoeijmakers, Catharina G Faber, Carien J Miedema, Ingemar S J Merkies, Johan S H Vles
Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. However, literature about SFN in children remains limited. The present article reports the cases of 2 adolescent girls diagnosed with SFN. The first patient (14 years of age) complained about painful itch and tingling in her legs, as well as dysautonomia symptoms for years. She also reported a red/purple-type discoloration of her legs aggravated by warmth and standing, compatible with erythromelalgia...
October 2016: Pediatrics
https://www.readbyqxmd.com/read/27639908/-erythromelalgia-diagnosis-and-therapeutic-approach
#18
S Miranda, M Le Besnerais, V Langlois, Y Benhamou, H Lévesque
Erythromelalgia is a rare intermittent vascular acrosyndrome characterized by the combination of recurrent burning pain, warmth and redness of the extremities. It is considered in its primary form as an autosomal dominant neuropathy related to mutations of SCN9A, the encoding gene of a voltage-gated sodium channel subtype Nav1.7. Secondary erythromelalgia is associated with myeloproliferative disorders, drugs (bromocriptine, calcium channel blockers), or clinical conditions such as rheumatic diseases or viral infection...
September 14, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27605912/electrochemical-skin-conductance-correlates-with-skin-nerve-fiber-density
#19
Peter Novak
PURPOSE: Electrochemical skin conductance (ESC) using reverse iontophoresis and chronoamperometry has been used to evaluate abnormal function of small fibers. How ESC correlates with loss of small fibers in skin is unclear. METHODS: This was a prospective, blinded study. The primary outcome measure was the correlation between ESC at the feet and results of skin biopsies including epidermal nerve fiber density (ENFD) and sweat gland nerve fiber density (SGNFD) at the distal leg...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27601446/early-detection-of-diabetic-neuropathy-by-investigating-cnfl-and-ienfd-in-thy1-yfp-mice
#20
Janine Leckelt, Pedro Guimarães, Annett Kott, Alfredo Ruggeri, Oliver Stachs, Simone Baltrusch
Small fiber neuropathy is one of the most common and painful long-term complications of diabetes mellitus. Examination of the sub-basal corneal nerve plexus is a promising surrogate marker of diabetic neuropathy. To investigate the efficacy, reliability and reproducibility of in vivo corneal confocal microscopy (IVCCM), we used thy1-YFP mice, which express yellow fluorescence protein (YFP) in nerve fibers. 4 weeks after multiple low-dose injections of streptozotocin, thy1-YFP mice showed manifest diabetes. Subsequent application of insulin-releasing pellets for 8 weeks resulted in a significant reduction of blood glucose concentration and HbA1c, a significant increase in body weight and no further increase in advanced glycation end products (AGEs)...
November 2016: Journal of Endocrinology
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