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https://www.readbyqxmd.com/read/28644353/extraintestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28369282/recessive-dystrophic-epidermolysis-bullosa-results-in-painful-small-fibre-neuropathy
#13
Sofia von Bischhoffshausen, Dinka Ivulic, Paola Alvarez, Victor C Schuffeneger, Juan Idiaquez, Constanza Fuentes, Pilar Morande, Ignacia Fuentes, Francis Palisson, David L H Bennett, Margarita Calvo
Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin...
March 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28339448/efficacious-dorsal-root-ganglion-stimulation-for-painful-small-fiber-neuropathy-a-case-report
#14
Paolo Maino, Eva Koetsier, Alain Kaelin-Lang, Claudio Gobbi, Roberto Perez
Small fiber neuropathy is a disorder of the peripheral nerves with typical symptoms of burning, sharp, and shooting pain and sensory disturbances in the feet. Pain treatment depends principally on the underlying etiology with concurrent administration of antidepressants, anticonvulsants, opioids, and topical treatments like capsaicin and local anesthetics. However, treatments for pain relief in these patients frequently fail. We describe the first case of intractable painful small fiber neuropathy of the foot successfully treated with spinal cord stimulation of the left L5 dorsal root ganglion...
March 2017: Pain Physician
https://www.readbyqxmd.com/read/28303912/new-technologies-for-the-assessment-of-neuropathies
#15
REVIEW
Roberto Gasparotti, Luca Padua, Chiara Briani, Giuseppe Lauria
Technical advances are rapidly changing the clinical and instrumental approach to peripheral nerve diseases. Magnetic resonance neurography, diffusion tensor imaging and nerve ultrasonography are increasingly entering the diagnostic workup of peripheral neuropathies as tools that complement neurophysiology and enable investigation of proximal structures, such as plexuses and roots. Progress in the design of magnetic resonance scanners and sequences, and the development of high-frequency ultrasound probes mean that high-resolution peripheral nerve imaging is possible, enabling detailed examination of nerve size, morphology and internal fascicular structure that can integrate nerve conduction studies into clinical practice...
March 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28291506/immunotactoid-glomerulopathy-leading-to-the-discovery-of-poems-syndrome%C3%A2
#16
Carole Philipponnet, Jean-Louis Kemeny, Cyril Garrouste, Martin Soubrier, Anne-Elisabeth Heng
Monoclonal gammopathy of renal significance (MGRS) can manifest in many different ways depending on the nature of the immunoglobulin and its physicochemical properties. MGRS can lead to the discovery of a hematological malignancy. We report the case of a 32-year-old female patient who underwent renal biopsy on account of an impure nephrotic syndrome associated with immunoglobulin (Ig)G κ monoclonal gammopathy. Histological analysis revealed membranoproliferative glomerulonephritis with IgG, IgM, κ, λ, and C3 deposits...
March 14, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28267059/diagnostic-accuracy-of-laser-evoked-potentials-in-diabetic-neuropathy
#17
Giulia Di Stefano, Silvia La Cesa, Caterina Leone, Alessia Pepe, Eleonora Galosi, Marco Fiorelli, Massimiliano Valeriani, Marco Lacerenza, Mario Pergolini, Antonella Biasiotta, Giorgio Cruccu, Andrea Truini
Although the most widely agreed neurophysiological tool for investigating small fiber damage is laser-evoked potential (LEP) recording, no study has documented its diagnostic accuracy. In this clinical, neurophysiological, and skin biopsy study, we collected age-corrected LEP normative ranges, verified the association of LEPs with pinprick sensory disturbances in the typical diabetic mixed fiber polyneuropathy, and assessed the sensitivity and specificity of LEPs in diabetic small fiber neuropathy. From 288 LEP recordings from the face, hand, and foot in 73 healthy subjects, we collected age-corrected normative ranges for LEPs...
June 2017: Pain
https://www.readbyqxmd.com/read/28202549/relationships-between-type-2-diabetes-neuropathy-and-microvascular-dysfunction-evidence-from-patients-with-cryptogenic-axonal-polyneuropathy
#18
Anna L Emanuel, Mariska D Nieuwenhoff, Erica S Klaassen, Ajay Verma, Mark H H Kramer, Rob Strijers, Alexander F J E Vrancken, Etto Eringa, Geert Jan Groeneveld, Erik H Serné
OBJECTIVE: This study investigated whether the relationship between neuropathy and microvascular dysfunction in patients with type 2 diabetes is independent of diabetes-related factors. For this purpose, we compared skin microvascular function in patients with type 2 diabetes with that of patients with cryptogenic axonal polyneuropathy (CAP), a polyneuropathy of unknown etiology. RESEARCH DESIGN AND METHODS: Cross-sectional information was collected from 16 healthy controls (HCs), 16 patients with CAP, 15 patients with type 2 diabetes with polyneuropathy (DPN), and 11 patients with type 2 diabetes without polyneuropathy...
April 2017: Diabetes Care
https://www.readbyqxmd.com/read/28126973/-neuronal-intranuclear-inclusion-disease
#19
Jun Sone, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is a gradually progressing neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and in certain visceral organs. The number of reported cases of NIID has recently increased after the introduction of skin biopsy for the diagnosis of NIID. Patients with sporadic NIID usually present with dementia, elevation of overall protein levels in the cerebrospinal fluid, leukoencephalopathy on head magnetic resonance imaging (MRI), and high signal intensity in the corticomedurally junction on a diffusion-weighted (DW) imaging...
January 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28116654/autonomic-neuropathy-in-its-many-guises-as-the-initial-manifestation-of-the-antiphospholipid-syndrome
#20
Jill R Schofield
Autonomic disorders have previously been described in association with the antiphospholipid syndrome. The present study aimed to determine the clinical phenotype of patients in whom autonomic dysfunction was the initial manifestation of the antiphospholipid syndrome and to evaluate for autonomic neuropathy in these patients. This was a retrospective study of 22 patients evaluated at the University of Colorado who were found to have a disorder of the autonomic nervous system as the initial manifestation of antiphospholipid syndrome...
January 24, 2017: Immunologic Research
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