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neuropathy skin biopsy

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https://www.readbyqxmd.com/read/29782495/molecular-immunological-and-neurophysiological-evaluations-for-early-diagnosis-of-neural-impairment-in-seropositive-leprosy-household-contacts
#1
Diogo Fernandes Dos Santos, Matheus Rocha Mendonça, Douglas Eulálio Antunes, Elaine Fávaro Pípi Sabino, Raquel Campos Pereira, Luiz Ricardo Goulart, Isabela Maria Bernardes Goulart
BACKGROUND: Household contacts constitute the highest risk group for leprosy development, and despite significant progress in the disease control, early diagnosis remains the primary goals for leprosy management programs. METHODS: We have recruited 175 seropositive and 35 seronegative household contacts from 2014 to 2016, who were subjected to an extensive protocol that included clinical, molecular (peripheral blood qPCR, slit-skin smear qPCR, skin biopsy qPCR) and electroneuromyographic evaluations...
May 21, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29739345/atypical-central-retinal-artery-occlusion-as-the-first-presentation-of-poems-syndrome-a-case-report
#2
Panitha Jindahra, Charungthai Dejthevaporn, Pimjai Niparuck, Jariya Waisayarat, Piyaphon Cheecharoen, Thanatporn Threetong, Purit Petpiroon, Tharikarn Sujirakul, Anuchit Poonyathalang, Kavin Vanikieti
BACKGROUND: POEMS syndrome is a plasma cell disorder, which clinically manifests from paraneoplastic syndrome: polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. The most common ocular manifestation is optic disc swelling, whereas other ocular manifestations; cystoid macular edema, serous macular detachment, venous sinus thrombosis, infiltrative orbitopathy, uveitis, neovascularization of the disc, peripapillary choroidal neovascularization and optic disc drusen, had also been reported...
May 8, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29729587/assessing-sudomotor-impairment-in-patients-with-peripheral-neuropathy-comparison-between-electrochemical-skin-conductance-and-skin-biopsy
#3
Mathilde Duchesne, Laurence Richard, Jean-Michel Vallat, Laurent Magy
OBJECTIVE: Sudoscan provides a rapid assessment of sudomotor function based on the measurement of electrochemical skin conductance (ESC), which is thought to be proportional to small nerve fibres innervating the sweat glands. However, the relationship between ESC and small nerve fibre density on skin biopsy remains unclear. METHODS: In a retrospective single-centre study, we compared ESC measurements with autonomic sweat gland nerve fibre density (SGNFD) and somatic intraepidermal nerve fibre density (IENFD) in patients with polyneuropathy...
April 27, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#4
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29549285/corneal-nerve-fiber-size-adds-utility-to-the-diagnosis-and-assessment-of-therapeutic-response-in-patients-with-small-fiber-neuropathy
#5
Michael Brines, Daniel A Culver, Maryam Ferdousi, Martijn R Tannemaat, Monique van Velzen, Albert Dahan, Rayaz A Malik
Small fiber neuropathy (SFN) is a common feature of many inflammatory diseases, often presenting with pain and disability. SFN is diagnosed using symptoms, thermal threshold testing, and intra-epidermal nerve fiber quantification. Corneal confocal microscopy (CCM) is an ophthalmic imaging technique which non-invasively quantifies corneal nerve fiber (CNF) density, branch density and length, and has comparable diagnostic and superior ability to identify nerve regeneration compared to skin biopsy. CNF size (width and area) depends upon the number of fibers within each nerve, as well as pathology (e...
March 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29546720/analysis-of-myelinating-schwann-cells-in-human-skin-biopsies
#6
Mario A Saporta, Renata de Moraes Maciel
The human skin is richly innervated by nerve fibers of different calibers and functions, including thickly myelinated large fibers that act as afferents for mechanoreceptors in the dermal papillae. Skin biopsies offer minimally invasive access to these myelinated fibers, in which each internode represents an individual myelinating Schwann cell. Using this approach, human myelinated nerve fibers can be analyzed by several methods, including immunostaining, morphometric and ultrastructural analysis, and molecular biology techniques...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29542204/n-hexane-exposure-a-cause-of-small-fiber-neuropathy
#7
Raquel Guimarães-Costa, Yoland Schoindre, Arnaud Metlaine, Jean-Pascal Lefaucheur, Jean-Philippe Camdessanché, Thierry Maisonobe, Jean-Marc Léger
A 59-year-old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N-hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N-hexane exposure, the patient had a progressive improvement of all signs and symptoms, reinforcing the correlation between exposure to N-hexane, and development of SFN...
March 15, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29541548/asymptomatic-loss-of-intraepidermal-nerve-fibers-with-preserved-thermal-detection-thresholds-after-repeated-exposure-to-severe-cold
#8
Thomas Krøigård, Martin Wirenfeldt, Toke K Svendsen, Søren H Sindrup
Background: Cold-induced peripheral neuropathy has been described in individuals exposed to severe cold resulting in pain, hypersensitivity to cold, hyperhidrosis, numbness, and skin changes. Nerve conduction studies and thermal detection thresholds are abnormal in symptomatic patients, and intraepidermal nerve fiber density (IENFD) in skin biopsies is reduced. Case presentation: A 41-year-old male was included as a healthy subject in a study of the spontaneous variability of quantitative sensory testing (QST), nerve conduction studies (NCS), and IENFD...
March 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29515067/-sporadic-late-onset-nemaline-myopathy-with-monoclonal-gammopathy-of-undetermined-significance-mimicking-poems-syndrome
#9
Takashi Kanamori, Shigeru Kusumoto, Kenji Okita, Shinya Hagiwara, Chie Kato, Takahiro Nakashima, Satsuki Murakami, Tomoko Narita, Asahi Ito, Masaki Ri, Takashi Ishida, Hirokazu Komatsu, Noriyuki Matsukawa, Shinsuke Iida
A 40-year-old female presented with a skin rash, hepatosplenomegaly, hypothyroidism, IgG-λ monoclonal gammopathy, slightly elevated serum VEGF levels, and >1-year history of weakness in the posterior cervical muscles. Based on these symptoms and her clinical course, she was suspected of having POEMS syndrome. However, because there was no sign of peripheral neuropathy (PN), the criteria for the diagnosis of POEMS syndrome were not met. Consequently, she continued follow-up and was under close observation as an outpatient...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29511692/quinolone-induced-painful-peripheral-neuropathy-a-case-report-and-literature-review
#10
Leonel J F Estofan, Stanislav Naydin, Gediminas Gliebus
We present a case report of a 20-year-old male with diabetes mellitus type 1, who developed severe painful peripheral neuropathy while on the second of a 10-day course with levofloxacin for the treatment of epididymitis. The intensity of the pain rapidly reached scores of 10/10 in a numeric scale 0/10, and the patient was transferred to an inpatient pain unit where he was treated aggressively with minimal improvement. A skin biopsy revealed small fiber neuropathy. Then the patient was treated with intravenous immunoglobulin, which improved the pain...
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29493845/the-role-of-skin-biopsy-in-differentiating-small-fiber-neuropathy-from-ganglionopathy
#11
V Provitera, C H Gibbons, G Wendelschafer-Crabb, V Donadio, D F Vitale, A Loavenbruck, A Stancanelli, G Caporaso, R Liguori, N Wang, L Santoro, W R Kennedy, M Nolano
BACKGROUND AND PURPOSE: We aimed to test the clinical utility of the leg:thigh intraepidermal nerve-fiber (IENF) density ratio as a parameter to discriminate between length-dependent small-fiber neuropathy (SFN) and small-fiber sensory ganglionopathy (SFSG) in subjects with signs and symptoms of small-fiber pathology. METHODS: We retrospectively evaluated thigh and leg IENF density in 314 subjects with small-fiber pathology (173 with distal symmetrical length-dependent SFN and 141 with non-length-dependent SFSG)...
June 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29465615/peripheral-vasculitic-neuropathy-associated-with-minocycline-use
#12
Min K Kang, Rajesh K Gupta, Jayashri Srinivasan
We describe 2 patients presenting with multiplex mononeuritis, associated with skin manifestation, secondary to minocycline-induced vasculitis. One of the cases is associated neither with lupus nor polyarteritis nodosa. An extensive laboratory workup ruled out any possible underlying immunologic disorder. Electrodiagnostic studies were conducted to show axonal neuropathy in patchy and multifocal distribution consistent with multiplex mononeuritis. This diagnosis was confirmed with nerve biopsy. Withdrawing from the offending medication, minocycline, improved the patients' clinical condition and the quantitative serological measures...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465610/col6a-and-lama2-mutation-congenital-muscular-dystrophy-a-clinical-and-electrophysiological-study
#13
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29408953/skin-biopsy-findings-in-patients-with-cmt1a-baseline-data-from-the-cln-pxt3003-01-study-provide-new-insights-into-the-pathophysiology-of-the-disorder
#14
Mathilde Duchesne, Aurore Danigo, Laurence Richard, Jean-Michel Vallat, Shahram Attarian, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Tania Stojkovic, Klaus-Armin Nave, Viviane Bertrand, Serguei Nabirotchkin, Daniel Cohen, Claire Demiot, Laurent Magy
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of Charcot-Marie-Tooth diseases, is a demyelinating neuropathy caused by a deletion encompassing the gene coding for PMP22, a myelin protein of the peripheral nervous system. Although myelinated fibers are mostly involved in CMT1A, some patients experience neuropathic pain. We thus investigated whether unmyelinated fibers are lost in CMT1A. Skin biopsies were taken from the distal portion of the leg of 80 patients with CMT1A as part of the PXT30003-01 study and processed for quantification of intraepidermal nerve fiber density (IENFD)...
April 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29386492/-a-case-of-neurolymphomatosis-that-was-diagnosed-by-acoustic-nerve-biopsy
#15
Asuka Asanome, Kohei Kano, Kae Takahashi, Tsukasa Saito, Jun Sawada, Takayuki Katayama
A 58-year-old female was admitted to our hospital because of recurrent multiple cranial neuropathy (right facial palsy followed by involvement of the left trigeminal, facial, acoustic, pharyngeal, and vagal nerves and the right abducens nerve). Brain MRI showed gadolinium enhancement of the right abducens, bilateral facial/acoustic, and left pharyngeal/vagal nerves, and 18 F-Fluorodeoxyglucose (FDG)-positron emission tomography revealed abnormal FDG uptake in the right facial, acoustic, pharyngeal, and vagal nerves and the left cervical lymph nodes...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29378736/intravascular-lymphoma-presenting-with-postural-hypotension
#16
Catharine Pearce, Suzy Hope, Joseph Butchart
An 84-year-old woman presented with severe postural hypotension. Further assessment revealed weight loss, fatigue and fever at night. On examination, she had bilateral skin lesions on the inner thighs and skin biopsy revealed intravascular high grade B cell lymphoma. This was successfully treated with curative chemotherapy. The cause of the postural hypotension in this case was felt likely to be autonomic neuropathy caused by neurovascular infiltration by intravascular lymphoma. Treatment of the lymphoma has resolved the postural hypotension, although some symptoms of postural instability persist...
January 29, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29370274/quantitative-and-qualitative-normative-dataset-for-intraepidermal-nerve-fibers-using-skin-biopsy
#17
Nicolas Collongues, Brigitte Samama, Catherine Schmidt-Mutter, Ludivine Chamard-Witkowski, Marc Debouverie, Jean-Baptiste Chanson, Maria-Cristina Antal, Karelle Benardais, Jérôme de Seze, Michel Velten, Nelly Boehm
BACKGROUND: Skin biopsy is the most relevant tool to diagnose small-fiber neuropathy. A well-documented normal dataset for intraepidermal nerve fiber in the distal leg is required to improve its diagnostic value. METHODS: Three hundred healthy subjects were enrolled in the study, after clinical and biological screening to exclude neurological and systemic pathologies. A distal leg biopsy was taken and intraepidermal nerve fiber density after protein gene product-9...
2018: PloS One
https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#18
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#19
Violaine Plante-Bordeneuve
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN)...
December 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29239897/ex-vivo-expression-of-chemokine-receptors-on-cells-surrounding-cutaneous-nerves-in-patients-with-hiv-associated-sensory-neuropathy
#20
Jenjira Mountford, Fitri Octaviana, Riwanti Estiasari, Denise Dewanto Setiawan, Ibnu Ariyanto, Silvia Lee, Jessica Gaff, Constance Chew, Connie Jackaman, Peter Kamerman, Catherine Cherry, Patricia Price
OBJECTIVE: HIV-associated sensory neuropathy (HIV-SN) remains common in HIV+ individuals receiving antiretroviral therapy (ART), even though neurotoxic antiretroviral drugs (e.g. stavudine) have been phased out of use. Accumulating evidence indicates that the neuropathy is immune-mediated. We hypothesize that chemokines produced locally in the skin promote migration of macrophages and T cells into the tissue, damaging cutaneous nerves causing HIV-SN. DESIGN: We assessed chemokine receptor expression on infiltrating CD14 and CD3 cells around cutaneous nerves in standardized skin biopsies from HIV-SN+ patients (n = 5), HIV-SN- patients (n = 9) and healthy controls (n = 4)...
February 20, 2018: AIDS
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