keyword
MENU ▼
Read by QxMD icon Read
search

neuropathy skin biopsy

keyword
https://www.readbyqxmd.com/read/28339448/efficacious-dorsal-root-ganglion-stimulation-for-painful-small-fiber-neuropathy-a-case-report
#1
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
#2
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
#3
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
#4
G Di Stefano, S La Cesa, C Leone, A Pepe, E Galosi, M Fiorelli, M Valeriani, M Lacerenza, M Pergolini, A Biasiotta, G Cruccu, A Truini
Although the most widely agreed neurophysiological tool for investigating small fibre 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-fibre polyneuropathy and assessed the sensitivity and specificity of LEPs in diabetic small-fibre neuropathy.From 288 LEP recordings from the face, hand and foot in 73 healthy subjects we collected age-corrected normative ranges for LEPs...
March 4, 2017: Pain
https://www.readbyqxmd.com/read/28202549/relationships-between-type-2-diabetes-neuropathy-and-microvascular-dysfunction-evidence-from-patients-with-cryptogenic-axonal-polyneuropathy
#5
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...
February 15, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28126973/-neuronal-intranuclear-inclusion-disease
#6
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
#7
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
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#8
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27984834/-ophthalmological-monitoring-of-diabetic-neuropathy-in-a-mouse-model
#9
S Baltrusch
Patients with diabetes mellitus suffer from late damage, including microvascular and macrovascular complications and diabetic polyneuropathy, even though blood glucose is well controlled and the HbA1c value normalised. Peripheral nerves are affected, and when these are damaged, this can result in disturbed sensation and pain. Such nerves are mainly Aδ und C fibres, which are present in the skin, but also in the subbasal nerve plexus of the cornea. Imaging of the subbasal nerve plexus using microscopic techniques allows a very early and objective view of neuropathy, which is only possible invasively by skin biopsy...
December 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27941127/leprosy-in-a-patient-infected-with-hiv
#10
Clare M Galtrey, Hamid Modarres, Zane Jaunmuktane, Sebastian Brandner, Alexander M Rossor, Diana Nj Lockwood, Mary M Reilly, Hadi Manji, Fred Schon
A 60-year-old Nigerian man, who had lived in Europe for 30 years but had returned home frequently, presented with right frontalis muscle weakness and right ulnar nerve palsy, without skin lesions. Neurophysiology showed a generalised neuropathy with demyelinating features. Blood tests were positive for HIV, with a normal CD4 count. There was nerve thickening both clinically and on MRI. Nerve biopsy showed chronic endoneuritis and perineuritis (indicating leprosy) without visible mycobacteria. His neuropathy continued to deteriorate (lepra reaction) before starting treatment with WHO multidrug therapy, highly active antiretroviral therapy and corticosteroids...
April 2017: Practical Neurology
https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#11
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27913968/post-ganglionic-autonomic-neuropathy-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#12
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
#13
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
#14
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...
April 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/27859794/the-perception-of-affective-touch-in-parkinson-s-disease-and-its-relation-to-small-fibre-neuropathy
#15
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 and 10 cm/s. 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...
January 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27851774/skin-globotriaosylceramide-3-load-is-increased-in-men-with-advanced-fabry-disease
#16
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
#17
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
#18
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
#19
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
#20
REVIEW
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
keyword
keyword
85524
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"