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https://www.readbyqxmd.com/read/27913968/post-ganglionic-autonomic-neuropathy-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#1
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
#2
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/27896434/towards-a-functional-pathology-of-hereditary-neuropathies
#3
REVIEW
Joachim Weis, Kristl G Claeys, Andreas Roos, Hamid Azzedine, Istvan Katona, J Michael Schröder, Jan Senderek
A growing number of hereditary neuropathies have been assigned to causative gene defects in recent years. The study of human nerve biopsy samples has contributed substantially to the discovery of many of these neuropathy genes. Genotype-phenotype correlations based on peripheral nerve pathology have provided a comprehensive picture of the consequences of these mutations. Intriguingly, several gene defects lead to distinguishable lesion patterns that can be studied in nerve biopsies. These characteristic features include the loss of certain nerve fiber populations and a large spectrum of distinct structural changes of axons, Schwann cells and other components of peripheral nerves...
November 28, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27859794/the-perception-of-affective-touch-in-parkinson-s-disease-and-its-relation-to-small-fibre-neuropathy
#4
Lewis Kass-Iliyya, Matthew Leung, Andrew Marshall, Paula Trotter, Christopher Kobylecki, Susannah Walker, David Gosal, Maria Jeziorska, Rayaz A Malik, Francis McGlone, Monty A Silverdale
Affective touch sensation is conducted by a sub-class of C-fibres in hairy skin known as C-Tactile (CT) afferents. CT afferents respond maximally to gentle skin stroking at velocities between 1-10 cm/sec. Parkinson's disease (PD) is characterised by markedly reduced cutaneous C-fibres. It is not known if affective touch perception is influenced by C fibre density and if affective touch is impaired in PD compared to healthy controls. We predicted that perceived pleasantness to gentle stroking in PD would correlate with C afferent density and that affective touch perception would be impaired in PD compared to healthy controls...
November 17, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27851774/skin-globotriaosylceramide-3-load-is-increased-in-men-with-advanced-fabry-disease
#5
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/27797808/clinicopathological-features-of-adult-onset-neuronal-intranuclear-inclusion-disease
#6
Jun Sone, Keiko Mori, Tomonori Inagaki, Ryu Katsumata, Shinnosuke Takagi, Satoshi Yokoi, Kunihiko Araki, Toshiyasu Kato, Tomohiko Nakamura, Haruki Koike, Hiroshi Takashima, Akihiro Hashiguchi, Yutaka Kohno, Takashi Kurashige, Masaru Kuriyama, Yoshihisa Takiyama, Mai Tsuchiya, Naoyuki Kitagawa, Michi Kawamoto, Hajime Yoshimura, Yutaka Suto, Hiroyuki Nakayasu, Naoko Uehara, Hiroshi Sugiyama, Makoto Takahashi, Norito Kokubun, Takuya Konno, Masahisa Katsuno, Fumiaki Tanaka, Yasushi Iwasaki, Mari Yoshida, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. NIID has been considered to be a heterogeneous disease because of the highly variable clinical manifestations, and ante-mortem diagnosis has been difficult. However, since we reported the usefulness of skin biopsy for the diagnosis of NIID, the number of NIID diagnoses has increased, in particular adult-onset NIID...
December 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27765018/arthropathy-related-pain-in-a-patient-with-congenital-impairment-of-pain-sensation-due-to-hereditary-sensory-and-autonomic-neuropathy-type-ii-with-a-rare-mutation-in-the-wnk1-hsn2-gene-a-case-report
#7
Keiko Yamada, Junhui Yuan, Tomoo Mano, Hiroshi Takashima, Masahiko Shibata
BACKGROUND: Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge, no cases of an autonomic disorder have been reported clearly in a patient with WNK/HSN2 gene mutation and only one case of a Japanese patient with the WNK/HSN2 gene mutation of HSAN type II was previously reported. CASE PRESENTATION: Here we describe a 54-year-old woman who had an early childhood onset of insensitivity to pain; superficial, vibration, and proprioception sensation disturbances; and several symptoms of autonomic failure (e...
October 21, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27755346/extra-intestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#8
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: To evaluate the effectiveness of the GFD on extra-intestinal symptoms in pediatric and adult celiac populations at the University of Chicago (UofC). METHODS: We conducted a retrospective chart review of the UofC Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extra-intestinal symptoms at presentation, 12, 24, and greater than 24 months were recorded. Extra-intestinal symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis (DH), alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis and infertility...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27663057/familial-amyloid-polyneuropathy-when-does-it-stop-to-be-asymptomatic-and-need-a-treatment
#9
D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyrie
Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27660061/small-fiber-neuropathy-in-children-two-case-reports-illustrating-the-importance-of-recognition
#10
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...
September 22, 2016: Pediatrics
https://www.readbyqxmd.com/read/27605912/electrochemical-skin-conductance-correlates-with-skin-nerve-fiber-density
#11
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/27571910/double-trouble-para-neoplastic-anti-pca-2-and-crmp-5-mediated-small-fibre-neuropathy-followed-by-chorea-associated-with-small-cell-lung-cancer-and-evolving-radiological-features
#12
Waqar Waheed, James Boyd, Farrah Khan, Sharon L Mount, Neil M Borden, Rup Tandan
Patients with Purkinje cell cytoplasmic autoantibody type 2 (PCA-2) and collapsin response-mediator protein-5 (CRMP-5) autoantibody can present with multifocal elements of encephalomyeloneuropathy. Except for an anecdotal report, case descriptions of paraneoplastic small fibre neuropathy are lacking. We report paraneoplastic small fibre neuropathy followed by chorea associated with small cell lung cancer. A man aged 57 years with a 35 pack-year smoking history presented with painless subacute paresthesia and weight fluctuation...
August 29, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27552388/small-fiber-neuropathy-following-vaccination
#13
Jafar Kafaie, Minsoo Kim, Erik Krause
OBJECTIVE: To identify clinical and quantitative relationship between vaccinations and small fiber neuropathy (SFN). SFN refers to damaged unmyelinated or thinly myelinated sensory and/or autonomic fibers. Diagnosis is primarily based on clinical presentation. Intraepidermal nerve fiber density can provide diagnostic confirmation with a sensitivity of 88% and a specificity of 91%. However, the possible association between vaccination and small fiber polyneuropathy is not well defined...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27523009/memory-loss-and-frontal-cognitive-dysfunction-in-a-patient-with-adult-onset-neuronal-intranuclear-inclusion-disease
#14
Kunihiko Araki, Jun Sone, Yusuke Fujioka, Michihito Masuda, Reiko Ohdake, Yasuhiro Tanaka, Tomohiko Nakamura, Hirohisa Watanabe, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is an uncommon progressive neurodegenerative disorder. Adult-onset NIID can result in prominent dementia. We herein describe the case of a 74-year-old man who presented with dementia, cerebellar ataxia, neuropathy, and autonomic dysfunction. Diffusion-weighted imaging showed hyperintensity of the corticomedullary junction. Fluid-attenuated inversion recovery images showed frontal-dominant white matter hyperintensity. NIID was diagnosed from the presence of intranuclear inclusions in a skin biopsy sample...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27473128/the-second-report-of-a-new-hypomyelinating-disease-due-to-a-defect-in-the-vps11-gene-discloses-a-massive-lysosomal-involvement
#15
Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer
Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly...
November 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27428231/etiologies-and-prognostic-factors-of-leukocytoclastic-vasculitis-with-skin-involvement-a-retrospective-study-in-112-patients
#16
Kévin Bouiller, Sylvain Audia, Hervé Devilliers, Evelyne Collet, Marie Hélène Aubriot, Vanessa Leguy-Seguin, Sabine Berthier, Philippe Bonniaud, Pascal Chavanet, Jean-François Besancenot, Pierre Vabres, Laurent Martin, Maxime Samson, Bernard Bonnotte
In this study, outcomes of patients with leukocytoclastic vasculitis (LCV) were analyzed focusing on clinical, histopathology and laboratory findings, relapses, and survival.Data from patients with cutaneous vasculitis diagnosed between January 1, 2000, and December 31, 2010, at Dijon University Hospital (France) were retrospectively reviewed. LCV was defined as perivascular neutrophilic infiltrate, endothelial cell nuclear swelling, extravasation of red blood cells, and/or fibrin deposition in vessels. Patients were classified according to the 2012 Chapel Hill Consensus Conference...
July 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27417167/activity-in-people-with-diabetic-polyneuropathy-adapt-study-design-and-protocol-for-a-two-site-randomized-controlled-trial
#17
Patricia M Kluding, J Robinson Singleton, Mamatha Pasnoor, Mazen M Dimachkie, Richard J Barohn, A Gordon Smith, Robin L Marcus
BACKGROUND: Half of all patients with diabetes develop diabetic peripheral neuropathy (DPN), a complication leading to reduced mobility and quality of life. While there are no proven pharmacologic approaches to reduce DPN risk or slow its progression, evidence suggests physical activity may improve symptoms and enhance peripheral nerve regeneration. OBJECTIVE: To determine the impact of an intense lifestyle intervention on neuropathy progression and quality of life in individuals with DPN...
July 14, 2016: Physical Therapy
https://www.readbyqxmd.com/read/27417047/comprehensive-electrophysiology-in-leprous-neuropathy-is-there-a-clinico-electrophysiological-dissociation
#18
Neeraj Kumar, Hardeep Singh Malhotra, Ravindra Kumar Garg, Rakesh Lalla, Kiran Preet Malhotra, Amita Jain, Imran Rizvi
OBJECTIVE: The diagnosis of leprous neuropathy is mostly empirical and electrophysiological studies may not truly represent the clinical findings. This study comprehensively evaluates the neuroelectrophysiology and looks at clinico-electrophysiological dissociation. METHODS: Conventional electrophysiological recording included evaluation of median, ulnar, radial, tibial, and common peroneal nerve; an extended protocol included great auricular, phrenic, and facial nerves, along with sympathetic skin response and blink reflex...
August 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27401988/-skin-biopsy-and-quantitative-sensory-testing-can-contribute-to-small-fibre-neuropathy-diagnostics
#19
Thomas Krøigård, Pall Karlsson, Nanna Brix Finnerup, Søren Hein Sindrup, Troels Staehelin Jensen
Nerve conduction studies are normal in small fibre neuropathy and special methods such as skin biopsies or quantitative sensory testing are required for diagnosis. In skin biopsies, nerve fibres are stained immunohistochemically and loss of distal nerve endings can be quantified directly. Assessment of thermal detection thresholds is used to evaluate the function of the sensory thermal pathways, but cannot discriminate between central and peripheral lesions. Small fibre neuropathy is often associated with potentially treatable diseases, and treatment of neuropathic pain may be required...
June 20, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27387067/cellular-infiltrates-in-skin-and-sural-nerve-of-patients-with-polyneuropathies
#20
Nurcan Üçeyler, Silvia Braunsdorf, Ekkehard Kunze, Nadja Riediger, Sarah Scheytt, Šarka Divisova, Can Ebru Bekircan-Kurt, Klaus Viktor Toyka, Claudia Sommer
INTRODUCTION: To analyze the diagnostic usefulness of skin punch biopsies with emphasis on visualization and quantification of T-cells and macrophages in patients with polyneuropathies. METHODS: We quantified inflammatory cells in skin samples (lower leg, upper thigh) of 187 patients and compared data with counts in their sural nerve biopsies and with skin biopsies from 32 healthy volunteers. RESULTS: Vessel-bound T-cells and macrophages were increased in proximal and distal skin samples of neuropathy patients compared to controls (P<0...
July 7, 2016: Muscle & Nerve
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