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https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#1
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
#2
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
#3
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 anti-retroviral therapy (ART), even though neurotoxic anti-retroviral drugs (e.g. stavudine) have been phased out of use. Accumulating evidence indicates that the neuropathy is immune-mediated. We hypothesise 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 standardised skin biopsies from HIV-SN+ patients (n = 5), HIV-SN- patients (n = 9) and healthy controls (n = 4)...
December 12, 2017: AIDS
https://www.readbyqxmd.com/read/29235153/acral-melanoma-foot-lesions-part-2-clinical-presentation-diagnosis-and-management
#4
REVIEW
A Desai, R Ugorji, A Khachemoune
Acral melanoma (AM) is a rare subtype of cutaneous malignant melanoma found on acral skin, primarily on the soles of the feet. Although rare, it is the most common subtype of melanoma found in patients of African or Asian ethnicity and has a poor prognosis, often because of the more advanced stage of presentation at diagnosis. In the second of this two-part series, we review the clinical presentation, histopathology, diagnosis and management of AM. Clinically, AM presents as a variegated lesion with blue-black pigment and irregular borders on acral skin...
December 13, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29214093/should-skin-biopsies-be-performed-in-patients-suspected-of-having-parkinson-s-disease
#5
REVIEW
Timo Siepmann, Ana Isabel Penzlin, Ben Min-Woo Illigens, Heinz Reichmann
In patients with Parkinson's disease (PD), the molecularly misfolded form of α-synuclein was recently identified in cutaneous autonomic nerve fibers which displayed increased accumulation even in early disease stages. However, the underlying mechanisms of synucleinopathic nerve damage and its implication for brain pathology in later life remain to be elucidated. To date, specific diagnostic tools to evaluate small fiber pathology and to discriminate neurodegenerative proteinopathies are rare. Recently, research has indicated that deposition of α-synuclein in cutaneous nerve fibers quantified via immunohistochemistry in superficial skin biopsies might be a valid marker of PD which could facilitate early diagnosis and monitoring of disease progression...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/29202483/pmp22-antisense-oligonucleotides-reverse-charcot-marie-tooth-disease-type-1a-features-in-rodent-models
#6
Hien Tran Zhao, Sagar Damle, Karli Ikeda-Lee, Steven Kuntz, Jian Li, Apoorva Mohan, Aneeza Kim, Gene Hung, Mark A Scheideler, Steven S Scherer, John Svaren, Eric E Swayze, Holly B Kordasiewicz
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29189887/eosinophilic-granulomatosis-with-polyangiitis-without-respiratory-symptoms-or-asthma-in-an-adolescent-case-report-and-literature-review
#7
REVIEW
Gülçin Otar Yener, Zahide Ekici Tekin, Neşe Çallı Demirkan, Selçuk Yüksel
Eosinophilic granulomatosis with polyangiitis (EGPA), also known as Churg-Strauss syndrome, is a systemic necrotizing vasculitis of the small and medium vessels. It is primarily associated with respiratory conditions such as asthma and sinusitis as well as eosinophilia, neuropathy, pulmonary infiltrates, and vasculitis. EGPA is extremely rare in the pediatric age group, and respiratory system disorders are usually predominant in EGPA patients. A 14-year-old boy presented with rash and severe extremity pain...
November 30, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29176796/revisiting-primary-neural-leprosy-clinical-serological-molecular-and-neurophysiological-aspects
#8
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: Leprosy neuropathy is considered the most common peripheral neuropathy of infectious etiology worldwide, representing a public health problem. Clinical diagnosis of primary neural leprosy (PNL) is challenging, since no skin lesions are found and the slit skin smear bacilloscopy is negative. However, there are still controversial concepts regarding the primary-neural versus pure-neural leprosy definition, which will be explored by using multiple clinical-laboratory analyses in this study...
November 27, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#9
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29114916/hierarchical-models-for-epidermal-nerve-fiber-data
#10
Claes Andersson, Tuomas Rajala, Aila Särkkä
While epidermal nerve fiber (ENF) data have been used to study the effects of small fiber neuropathies through the density and the spatial patterns of the ENFs, little research has been focused on the effects on the individual nerve fibers. Studying the individual nerve fibers might give a better understanding of the effects of the neuropathy on the growth process of the individual ENFs. In this study, data from 32 healthy volunteers and 20 diabetic subjects, obtained from suction induced skin blister biopsies, are analyzed by comparing statistics for the nerve fibers as a whole and for the segments that a nerve fiber is composed of...
November 7, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/29077516/sfn-siq-sfnsl-and-skin-biopsy-of-55-cases-with-small-fiber-involvement
#11
Bo Sun, Yifan Li, Lizhi Liu, Zhaohui Chen, Li Ling, Fei Yang, Jiexiao Liu, Hong Liu, Xusheng Huang
INTRODUCTION: To date, there are no validated screening scales for small fiber neuropathy (SFN). This study investigated the Small-Fiber Neuropathy and Symptom Inventory Questionnaire (SFN-SIQ) as well as the Small Fiber Neuropathy Screening List (SFNSL) for SFN diagnosis. METHODS: Fifty-five patients were divided into SFN and mixed fiber damage groups. Relevant scales, nerve conduction studies (NCS) and skin biopsies were performed. Relationships between the intraepidermal nerve fiber density (IENFD) and different scales as well as the diagnostic and cut-off values (score at which Youden's index is largest) were determined...
October 27, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29052170/the-histopathological-evaluation-of-small-fiber-neuropathy-in-patients-with-vitamin-b12-deficiency
#12
Hafize Nalan Güneş, Can Ebru Bekircan-Kurt, Ersin Tan, Sevim Erdem-Özdamar
Small fiber neuropathy (SFN), due to loss of A-delta and unmyelinated C fibers, is a cause of neuropathic pain. Although the patients with vitamin B12 deficiency are included in SFN studies in the literature, there is no histopathological study investigating the small fiber loss solely in patients with vitamin B12 deficiency. In this pilot study, we aim to demonstrate the intraepidermal nerve fiber density (IENFD) in skin punch biopsy of patients with vitamin B12 deficiency. Ten patients with vitamin B12 deficiency suffering from neuropathic pain and as control group ten patients with vitamin B12 deficiency without neuropathic pain were included...
October 19, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29042446/clinical-and-metabolic-consequences-of-l-serine-supplementation-in-hereditary-sensory-and-autonomic-neuropathy-type-1c
#13
Mari Auranen, Jussi Toppila, Saranya Suriyanarayanan, Museer A Lone, Anders Paetau, Henna Tyynismaa, Thorsten Hornemann, Emil Ylikallio
Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. The aim of this study was to establish whether oral L-serine lowers 1-deoxySL in a patient with HSAN1C, to perform a dose escalation to find the minimal effective dose, and to assess the safety profile and global metabolic effects of the treatment...
October 17, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29029847/the-diagnostic-challenge-of-small-fibre-neuropathy-clinical-presentations-evaluations-and-causes
#14
REVIEW
Astrid J Terkelsen, Páll Karlsson, Giuseppe Lauria, Roy Freeman, Nanna B Finnerup, Troels S Jensen
Small fibre neuropathies are a heterogeneous group of disorders affecting thinly myelinated Aδ-fibres and unmyelinated C-fibres. Although multiple causes of small nerve fibre degeneration have been reported, including via genetic mutations, the cause of small fibre neuropathy remains unknown in up to 50% of cases. The typical clinical presentation of small fibre neuropathy is that of a symmetrical, length-dependent polyneuropathy associated with sensory or autonomic symptoms. More rarely, the clinical presentation is characterised by non-length-dependent, focal, or multifocal symptoms...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28993756/trench-foot-or-non-freezing-cold-injury-as-a-painful-vaso-neuropathy-clinical-and-skin-biopsy-assessments
#15
Praveen Anand, Rosario Privitera, Yiangos Yiangou, Philippe Donatien, Rolfe Birch, Peter Misra
BACKGROUND: Trench foot, or non-freezing cold injury (NFCI), results from cold exposure of sufficient severity and duration above freezing point, with consequent sensory and vascular abnormalities which may persist for years. Based on observations of Trench foot in World War II, the condition was described as a vaso-neuropathy. While some reports have documented nerve damage after extreme cold exposure, sensory nerve fibres and vasculature have not been assessed with recent techniques in NFCI...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28969380/chronic-non-freezing-cold-injury-results-in-neuropathic-pain-due-to-a-sensory-neuropathy
#16
Tom A Vale, Mkael Symmonds, Michael Polydefkis, Kelly Byrnes, Andrew S C Rice, Andreas C Themistocleous, David L H Bennett
Non-freezing cold injury develops after sustained exposure to cold temperatures, resulting in tissue cooling but not freezing. This can result in persistent sensory disturbance of the hands and feet including numbness, paraesthesia and chronic pain. Both vascular and neurological aetiologies of this pain have been suggested but remain unproven. We prospectively approached patients referred for clinical assessment of chronic pain following non-freezing cold injury between 12 February 2014 and 30 November 2016...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28968369/sensory-polyneuropathies
#17
Kelly Graham Gwathmey
PURPOSE OF REVIEW: This article describes the methods of diagnosis and management of the sensory-predominant polyneuropathies. To simplify the approach to this category of patients, sensory-predominant polyneuropathies are divided broadly into either small fiber (or pain-predominant) neuropathies and large fiber (or ataxia-predominant) neuropathies, of which the sensory neuronopathies (dorsal root ganglionopathies) are highlighted. RECENT FINDINGS: Physicians can now easily perform skin biopsies in their offices, allowing access to the gold standard pathologic diagnostic tool for small fiber neuropathies...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28951985/electrochemical-skin-conductance-a-systematic-review
#18
REVIEW
Peter Novak
PURPOSE: Currently available techniques for the evaluation of small fiber neuropathy and related sudomotor function remain suboptimal. Electrochemical skin conductance (ESC) has recently been introduced as a simple noninvasive and fast method for the detection of sudomotor dysfunction. The purpose of this review is to synthesize and appraise research using ESC measurements for sudomotor evaluation in adults. METHODS: Electronic databases including MEDLINE and Google Scholar were searched (up to March 13, 2017)...
September 26, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28894389/quantification-of-small-fiber-pathology-in-patients-with-sarcoidosis-and-chronic-pain-using-cornea-confocal-microscopy-and-skin-biopsies
#19
Linda Cj Oudejans, Marieke Niesters, Michael Brines, Albert Dahan, Monique van Velzen
Small fiber pathology with concomitant chronic neuropathic pain is a common complication of sarcoidosis. The gold standard of diagnosis of small fiber neuropathy (SFN) is the quantification of small nerve fibers in skin biopsies in combination with patient history and psychophysical tests; a new technique is the quantification of small nerve fibers in the cornea using cornea confocal microscopy (CCM). Here, we studied small fiber morphology in sarcoidosis patients with neuropathic pain using skin biopsies, CCM, and quantitative sensory testing (QST)...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28870579/aberrant-microrna-expression-in-patients-with-painful-peripheral-neuropathies
#20
Mathias Leinders, Nurcan Üçeyler, Anna Thomann, Claudia Sommer
Changes in the neuro-immune balance play a major role in the induction and maintenance of neuropathic pain. We recently reported pathophysiologically relevant alterations in skin and sural nerve cytokine expression in peripheral neuropathies of different etiologies. Immune processes and cytokine expression are under tight control of microRNAs (miRNAs). To identify potential master switches in the neuro-immune balance, we aimed at characterizing inflammation-regulating miRNA profiles in patients with peripheral neuropathies...
September 15, 2017: Journal of the Neurological Sciences
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