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https://www.readbyqxmd.com/read/28719619/diagnostic-utility-of-corneal-confocal-microscopy-and-intra-epidermal-nerve-fibre-density-in-diabetic-neuropathy
#1
Uazman Alam, Maria Jeziorska, Ioannis N Petropoulos, Omar Asghar, Hassan Fadavi, Georgios Ponirakis, Andrew Marshall, Mitra Tavakoli, Andrew J M Boulton, Nathan Efron, Rayaz A Malik
OBJECTIVES: Corneal confocal microscopy (CCM) is a rapid, non-invasive, reproducible technique that quantifies small nerve fibres. We have compared the diagnostic capability of CCM against a range of established measures of nerve damage in patients with diabetic neuropathy. METHODS: In this cross sectional study, thirty subjects with Type 1 diabetes without neuropathy (T1DM), thirty one T1DM subjects with neuropathy (DSPN) and twenty seven non-diabetic healthy control subjects underwent detailed assessment of neuropathic symptoms and neurologic deficits, quantitative sensory testing (QST), electrophysiology, skin biopsy and corneal confocal microscopy (CCM)...
2017: PloS One
https://www.readbyqxmd.com/read/28699668/poems-syndrome-2017-update-on-diagnosis-risk-stratification-and-management
#2
Angela Dispenzieri
DISEASE OVERVIEW: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other neurologic disorders, most commonly chronic inflammatory demyelinating polyradiculoneuropathy...
August 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28685718/clinical-characteristics-electrophysiology-and-skin-biopsy-of-38-peripheral-neuropathy-cases-with-small-fiber-involvement-of-various-etiologies
#3
Bo Sun, Li-Zhi Liu, Yi-Fan Li, Zhao-Hui Chen, Li Ling, Fei Yang, Fang Cui, Xu-Sheng Huang
BACKGROUND: In small fiber neuropathy (SFN), thinly myelinated Aδ and unmyelinated C fibers are primarily affected, resulting in sensory and/or autonomic symptoms. Various etiologies have been shown to be associated with SFN. This study was aimed to analyze a variety of features in peripheral neuropathy (PN) with small fiber involvement, and to compare disease severity among patients with idiopathic PN, PN associated with impaired glucose tolerance (IGT), and metabolic syndrome (MS) PN...
July 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28672034/skin-globotriaosylceramide-3-deposits-are-specific-to-fabry-disease-with-classical-mutations-and-associated-with-small-fibre-neuropathy
#4
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. METHODS: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28670077/mixed-phenotypic-acute-leukemia-with-leukemia-cutis-and-neuroleukemiosis
#5
Rona Joseph Poikayil, Geetha Narayanan, Harish Sugathan, Lali V Soman
Leukemia cutis and neuroleukemiosis are two rare extramedullary manifestations of acute leukemia. We report a 32-year-old woman with multiple skin lesions and painful peripheral neuropathy. Bone marrow biopsy and skin biopsy confirmed the diagnosis of mixed phenotypic acute leukemia. After induction chemotherapy, she attained marrow remission, her skin lesion resolved completely, and her neurologic symptoms significantly improved.
July 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28667178/a-new-potential-biomarker-for-dementia-with-lewy-bodies-skin-nerve-%C3%AE-synuclein-deposits
#6
Vincenzo Donadio, Alex Incensi, Giovanni Rizzo, Sabina Capellari, Roberta Pantieri, Michelangelo Stanzani Maserati, Grazia Devigili, Roberto Eleopra, Giovanni Defazio, Federico Montini, Agostino Baruzzi, Rocco Liguori
OBJECTIVE: To investigate whether (1) phosphorylated α-synuclein (p-syn) deposits in skin nerves could be useful in differentiating dementia with Lewy bodies (DLB) from different forms of dementia and (2) small fiber neuropathy (SFN) is associated with DLB. METHODS: We studied 18 well-characterized patients with DLB (11 with autonomic dysfunction), 23 patients with nonsynucleinopathy dementia (NSD; 13 with young-onset Alzheimer disease dementia, 6 frontotemporal dementia, and 4 vascular dementia), and 25 healthy controls...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28665811/small-fibre-neuropathy
#7
Daniele Cazzato, Giuseppe Lauria
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28663436/keratinocytes-produce-il-17c-to-protect-peripheral-nervous-systems-during-human-hsv-2-reactivation
#8
Tao Peng, R Savanh Chanthaphavong, Sijie Sun, James A Trigilio, Khamsone Phasouk, Lei Jin, Erik D Layton, Alvason Z Li, Colin E Correnti, Willem De van der Schueren, Julio Vazquez, Diana R O'Day, Ian A Glass, David M Knipe, Anna Wald, Lawrence Corey, Jia Zhu
Despite frequent herpes simplex virus (HSV) reactivation, peripheral nerve destruction and sensory anesthesia are rare. We discovered that skin biopsies obtained during asymptomatic human HSV-2 reactivation exhibit a higher density of nerve fibers relative to biopsies during virological and clinical quiescence. We evaluated the effects of HSV infection on keratinocytes, the initial target of HSV replication, to better understand this observation. Keratinocytes produced IL-17c during HSV-2 reactivation, and IL-17RE, an IL-17c-specific receptor, was expressed on nerve fibers in human skin and sensory neurons in dorsal root ganglia...
June 29, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28644353/extraintestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#9
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. METHODS: We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28603514/cutaneous-autonomic-pilomotor-testing-to-unveil-the-role-of-neuropathy-progression-in-early-parkinson-s-disease-capture-pd-protocol-for-a-multicenter-study
#10
Timo Siepmann, Alexandra Pintér, Sylvia J Buchmann, Leonie Stibal, Martin Arndt, Anne Sophie Kubasch, Marie Luise Kubasch, Ana Isabel Penzlin, Elka Frenz, Wagner Zago, Tamás Horváth, Szabolcs Szatmári, Dániel Bereczki, Annamária Takáts, Tjalf Ziemssen, Axel Lipp, Roy Freeman, Heinz Reichmann, Kristian Barlinn, Ben Min-Woo Illigens
BACKGROUND: In Parkinson's disease (PD), alpha-synuclein accumulation in cutaneous autonomic pilomotor and sudomotor nerve fibers has been linked to autonomic nervous system disturbances even in the early stages of the disease. This study aims to assess the association between alpha-synuclein-mediated structural autonomic nerve fiber damage and function in PD, elucidate the role of neuropathy progression during the early disease stages, and test reproducibility and external validity of pilomotor function assessment using quantitative pilomotor axon-reflex test and sudomotor function via quantitative direct and indirect test of sudomotor function...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28598015/cutaneous-nerve-biomarkers-in-transthyretin-familial-amyloid-polyneuropathy
#11
Gigi J Ebenezer, Ying Liu, Daniel P Judge, Kelly Cunningham, Shaun Truelove, Noel D Carter, Blessan Sebastian, Kelly Byrnes, Michael Polydefkis
OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2)...
June 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28584377/neurolymphomatosis-in-primary-cutaneous-cd4-pleomorphic-small-medium-sized-t-cell-lymphoma-mimicking-hansen-s-disease
#12
Anza Khader, Mary Vineetha, Mamatha George, Shiny Padinjarayil Manakkad, Sunitha Balakrishnan, Uma Rajan
Neurolymphomatosis (NL) refers to nerve infiltration by neurotropic neoplastic cells in the setting of a known or an unknown hematological malignancy. It typically presents as painful or painless peripheral mononeuropathy, mononeuritis multiplex, polyneuropathy, polyradiculopathy, or cranial neuropathy. A 32-year-old male presented with a hyperpigmented hypoesthetic plaque over the anterolateral aspect of the right leg with thickening of the right common peroneal nerve and foot drop clinically diagnosed as Hansen's disease...
May 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28575008/plasma-metabolome-and-skin-proteins-in-charcot-marie-tooth-1a-patients
#13
Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
OBJECTIVE: Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease...
2017: PloS One
https://www.readbyqxmd.com/read/28573768/nodes-of-ranvier-in-skin-biopsies-of-patients-with-diabetes-mellitus
#14
Kathrin Doppler, Franziska Frank, Ann-Cathrin Koschker, Karlheinz Reiners, Claudia Sommer
Paranodal demyelination has been discussed as a potential mechanism of nerve fiber damage in diabetic neuropathy. Studies on human tissue are limited, as nerve biopsies are invasive and only rarely performed in patients with confirmed diabetic neuropathy. Skin biopsy has recently been suggested as a tool to analyze paranodal and nodal changes of myelinated fibers. We analyzed the myelinated fibers of skin biopsies of 35 patients with diabetic neuropathy, 17 patients with diabetes mellitus without neuropathy, and 30 normal controls...
June 2, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28566167/in-vivo-reflectance-confocal-microscopy-of-meissner-s-corpuscles-in-diabetic-distal-symmetric-polyneuropathy
#15
Peter D Creigh, Michael P McDermott, Janet E Sowden, Michele Ferguson, David N Herrmann
OBJECTIVE: To evaluate in-vivo reflectance confocal microscopy (RCM) of Meissner's corpuscles (MC) in diabetic distal symmetric polyneuropathy (DSP). METHODS: Forty-three adults with diabetes and 21 control subjects underwent RCM of MC density at the fingertip of digit V, thenar eminence (TE), and arch of the foot, ankle skin biopsy for epidermal nerve fiber density (ENFD), electrophysiological studies, monofilament threshold testing, and timed vibration at the toe...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28556268/incidence-of-non-amyloidogenic-mutations-in-the-transthyretin-gene-in-patients-with-autonomic-and-small-fiber-neuropathy
#16
Todd D Levine, Ruth J Bland Fnp
Introduction Mutations of the transthyretin (TTR) gene have been associated with polyneuropathy; the protein product has a tendency to form amyloid deposits in the peripheral nervous system. METHODS: Patients with small fiber neuropathy (SFN) with or without autonomic symptoms were given skin biopsies to assess nerve fiber density. Any patient with autonomic symptoms was assessed for autonomic neuropathy (AN). If testing revealed no clear cause of neuropathy, the TTR gene was sequenced...
May 26, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28552870/adult-onset-neuronal-intranuclear-inclusion-disease-presented-transient-global-amnesia-a-case-report
#17
Jun Takeshita, Hiromitsu Kobayashi, Yutaka Shimoe, Jun Sone, Gen Sobue, Masaru Kuriyama
A 65-year-old man had a transient amnesia for about 3 hours. Similar symptoms appeared three years ago. He did not manifest dementia, cerebellar ataxia and involuntary movements. Peripheral neuropathy was observed by the neurophysiological examinations. Diffusion weighted image showed high intensity signal in the area of the corticomedullary junction of the frontal to parietal lobes and immunohistochemical studies of biopsied skin revealed many intranuclear inclusion bodies. Adult-onset neuronal intranuclear inclusion disease was diagnosed...
May 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28468842/novel-mutations-in-dystonin-provide-clues-to-the-pathomechanisms-of-hsan-vi
#18
Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana P Rebelo, Vincenzo Provitera, Filippo M Santorelli, Michael E Shy, Tommaso Russo, Stephan Zuchner, Lucio Santoro
OBJECTIVE: To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC). METHODS: The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous innervation and to get fibroblast cultures for developing iPSC-derived neurons...
May 30, 2017: Neurology
https://www.readbyqxmd.com/read/28447661/the-nonsystemic-vasculitic-neuropathies
#19
REVIEW
Michael P Collins, Robert D Hadden
Nonsystemic vasculitic neuropathy (NSVN) is an under-recognized single-organ vasculitis of peripheral nerves that can only be diagnosed with a nerve biopsy. A Peripheral Nerve Society guideline group published consensus recommendations on the classification, diagnosis and treatment of NSVN in 2010, and new diagnostic criteria for vasculitic neuropathy were developed by the Brighton Collaboration in 2015. In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy...
April 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28382305/pmp22-exon-4-deletion-causes-er-retention-of-pmp22-and-a-gain-of-function-allele-in-cmt1e
#20
David S Wang, Xingyao Wu, Yunhong Bai, Craig Zaidman, Tiffany Grider, John Kamholz, James R Lupski, Anne M Connolly, Michael E Shy
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. METHODS: Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP22 were evaluated clinically and by electrophysiology. Skin biopsies from the proband were studied by RT-PCR to determine the effects of the exon 4 rearrangements on exon 4 mRNA expression in myelinating Schwann cells...
April 2017: Annals of Clinical and Translational Neurology
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