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Small fibre neuropathy

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https://www.readbyqxmd.com/read/27878441/long-term-treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-clinical-and-neurophysiological-study
#1
Violaine Planté-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheur
Tafamidis is a transthyretin (TTR) stabilizer recently approved to slow the neurologic impairment in TTR familial amyloid polyneuropathy (TTR-FAP). The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy. However, the effect of the drug in the non-Val30Met patients, at a more advanced stage of the disease and on the long term, is less known. In this study, we report the effect of Tafamidis in 43 TTR-FAP patients with a variety of pathogenic mutations, including 53% of non-Val30Met variants, at different stages of neuropathy followed on the long term...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27859794/the-perception-of-affective-touch-in-parkinson-s-disease-and-its-relation-to-small-fibre-neuropathy
#2
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/27793437/familial-amyloidosis-with-polyneuropathy-type-1-caused-by-transthyretin-mutation-val50met-val30met-4-cases-in-a-non-endemic-area
#3
N Andrés, J J Poza, J F Martí Massó
INTRODUCTION: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. OBJECTIVES AND METHODS: We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease...
October 26, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/27783183/association-of-sudomotor-function-with-peripheral-artery-disease-in-type-2-diabetes
#4
Simran Chahal, Kanchan Vohra, Ashit Syngle
Peripheral artery disease (PAD) is the major risk factor for cardiovascular disease and lower extremity amputation in patients with diabetes. Autonomic neuropathy is a risk factor for cardiovascular-related morbidity and mortality. Sudomotor dysfunction is well established in type 2 diabetes mellitus (T2DM) and reflects small fibre neuropathy, cardiovascular autonomic neuropathy and peripheral sympathetic autonomic neuropathy. However, the relationship between sudomotor dysfunction and PAD remains unexplored...
October 25, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27682209/a-rodent-model-of-hiv-protease-inhibitor-indinavir-induced-peripheral-neuropathy
#5
W Huang, M Calvo, T Pheby, D L H Bennett, A S C Rice
HIV-associated sensory neuropathy (HIV-SN) is the most frequent manifestation of HIV disease. It often presents with significant neuropathic pain and is associated with previous exposure to neurotoxic nucleoside reverse transcriptase inhibitors. However, HIV-SN prevalence remains high even in resource-rich settings where these drugs are no longer used. Previous evidence suggests that exposure to indinavir, a protease inhibitor commonly used in antiretroviral therapy, may link to elevated HIV-SN risk. Here we investigated whether indinavir treatment was associated with the development of a "dying back" axonal neuropathy and changes in pain-relevant limb withdrawal and thigmotactic behaviours...
September 23, 2016: Pain
https://www.readbyqxmd.com/read/27666897/sle-neuropathy-anything-new
#6
Vikram A Londhey
SLE (systemic lupus erythematosus) is a multisystem autoimmune disorder of unknown aetiology which can present with myriad clinical presentation. The neurological manifestations of SLE consist of central nervous system (CNS) and peripheral nervous system manifestations (PNS). The CNS manifestations are aseptic meningitis, cerebrovascular accidents (stroke), demyelinating disorders, headache, involuntary movements like chorea, myelopathy, acute confusional states, cognitive dysfunction, mood disorder, seizures, psychosis and cranial nerve palsies...
December 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27660311/clinical-challenges-in-the-diagnosis-and-management-of-postural-tachycardia-syndrome
#7
Pearl K Jones, Brett H Shaw, Satish R Raj
Postural tachycardia syndrome (POTS) is a multifactorial clinical syndrome defined by an increase in heart rate of ≥30 bpm on standing from supine position (or ≥40 bpm in children). It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve when in supine position. Patients often have additional symptoms including severe fatigue and difficulty concentrating. There are several possible pathophysiologic mechanisms including hypovolaemia, small-fibre peripheral neuropathy and hyperadrenergic states...
September 22, 2016: Practical Neurology
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
#8
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/27503742/familial-gain-of-function-nav1-9-mutation-in-a-painful-channelopathy
#9
Chongyang Han, Yang Yang, Rene H Te Morsche, Joost P H Drenth, Juan M Politei, Stephen G Waxman, Sulayman D Dib-Hajj
OBJECTIVE: Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pain disorders, and in patients with painful small-fibre neuropathy. Identification and functional assessment of new Nav1.9 mutations will help to elucidate the phenotypic spectrum of Nav1.9 channelopathies. METHODS: Patients from a large family with early-onset pain symptoms were evaluated by clinical examination and genomic screening for mutations in SCN9A and SCN11A...
August 8, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27449322/negative-neurodynamic-tests-do-not-exclude-neural-dysfunction-in-patients-with-entrapment-neuropathies
#10
Larissa T Baselgia, David L Bennett, Robert M Silbiger, Annina B Schmid
OBJECTIVE: To examine differences in somatosensory phenotypes of patients with positive and negative neurodynamic tests and compare these with healthy participants. DESIGN: Case-control study. SETTING: University department. PARTICIPANTS: Patients with electrodiagnostically confirmed carpal tunnel syndrome (CTS) (n=53) and people without CTS (n=26) participated in this study (N=79). Patients with CTS were subgrouped according to the results of the upper limb neurodynamic tests biasing the median nerve into patients with positive or negative neurodynamic tests...
July 20, 2016: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/27401988/-skin-biopsy-and-quantitative-sensory-testing-can-contribute-to-small-fibre-neuropathy-diagnostics
#11
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/27311590/discovering-early-diabetic-neuropathy-from-epidermal-nerve-fiber-patterns
#12
Claes Andersson, Peter Guttorp, Aila Särkkä
Epidermal nerve fibre (ENF) density and morphology are used to study small fibre involvement in diabetic, HIV, chemotherapy induced and other neuropathies. ENF density and summed length of ENFs per epidermal surface area are reduced, and ENFs may appear more clustered within the epidermis in subjects with small fibre neuropathy than in healthy subjects. Therefore, it is important to understand the spatial structure of ENFs. In this paper, we compare the ENF patterns between healthy subjects and subjects suffering from mild diabetic neuropathy...
June 16, 2016: Statistics in Medicine
https://www.readbyqxmd.com/read/27278802/distal-lower-limb-strength-is-reduced-in-subjects-with-impaired-glucose-tolerance-and-is-related-to-elevated-intramuscular-fat-level-and-vitamin-d-deficiency
#13
M M Almurdhi, N D Reeves, F L Bowling, A J M Boulton, M Jeziorska, R A Malik
AIM: To quantify muscle strength and size in subjects with impaired glucose tolerance (IGT) in relation to intramuscular non-contractile tissue, the severity of neuropathy and vitamin D level. METHODS: A total of 20 subjects with impaired glucose tolerance and 20 control subjects underwent assessment of strength and size of knee extensor, flexor and ankle plantar and dorsi-flexor muscles, as well as quantification of intramuscular non-contractile tissue and detailed assessment of neuropathy and serum 25-hydroxy vitamin D levels...
June 9, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/27169344/open-non-comparative-multi-centre-post-clinical-study-of-the-performance-and-safety-of-a-gelling-fibre-wound-dressing-on-diabetic-foot-ulcers
#14
MULTICENTER STUDY
P Chadwick, J McCardle
OBJECTIVE: To evaluate the performance and safety of Exufiber, a gelling fibre wound dressing incorporating Hydrolock technology, in the management of highly exuding diabetic foot ulcers (DFUs). METHOD: The study was conducted over a 12 week period involving a total of 21 patients with DFUs. A number of parameters were measured to monitor the change in condition of the peri-wound skin from baseline assessments. The evaluation of dressing-related pain was measured using a 100mm visual analogue scale (VAS)...
May 2016: Journal of Wound Care
https://www.readbyqxmd.com/read/27156167/foot-bone-density-in-diabetes-may-be-unaffected-by-the-presence-of-neuropathy
#15
Alex L Barwick, John W Tessier, Xanne Janse de Jonge, Vivienne H Chuter
AIMS: Neuropathies are common complications of diabetes and are proposed to influence peripheral bone, principally via an altered vascular supply. This study aimed to determine the relationship between subtypes of neuropathy and vascular reactivity on foot bone density in people with diabetes. METHODS: A case-control observational design was utilised with two groups: those with diabetic peripheral large fibre neuropathy (n=23) and a control group with diabetes but without neuropathy (n=23)...
August 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27100829/peripheral-nerve-dysfunction-in-middle-aged-subjects-born-with-thalidomide-embryopathy
#16
Alessia Nicotra, Claus Newman, Martin Johnson, Oleg Eremin, Tim Friede, Omar Malik, Richard Nicholas
BACKGROUND: Phocomelia is an extremely rare congenital malformation that emerged as one extreme of a range of defects resulting from in utero exposure to thalidomide. Individuals with thalidomide embryopathy (TE) have reported developing symptoms suggestive of peripheral nervous system dysfunction in the mal-developed limbs in later life. METHODS: Case control study comparing TE subjects with upper limb anomalies and neuropathic symptoms with healthy controls using standard neurophysiological testing...
2016: PloS One
https://www.readbyqxmd.com/read/27017186/contactin-1-igg4-antibodies-cause-paranode-dismantling-and-conduction-defects
#17
Constance Manso, Luis Querol, Mourad Mekaouche, Isabel Illa, Jérôme J Devaux
Paranodal axoglial junctions formed by the association of contactin-1, contactin-associated protein 1, and neurofascin-155, play important functions in nerve impulse propagation along myelinated axons. Autoantibodies to contactin-1 and neurofascin-155 define chronic inflammatory demyelinating polyradiculoneuropathy subsets of patients with specific clinical features. These autoantibodies are mostly of the IgG4 isotype, but their pathogenicity has not been proven. Here, we investigated the mechanisms how IgG subclasses to contactin-1 affect conduction...
June 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27008194/sleep-disturbance-obstructive-sleep-apnoea-and-abnormal-periodic-leg-movements-very-common-problems-in-fabry-disease
#18
Andrew Talbot, Gary Hammerschlag, Jeremy Goldin, Kathy Nicholls
OBJECTIVES: To assess the prevalence of sleep disorder(s) in males with Fabry disease and explore possible association with disease phenotype. BACKGROUND: Fabry disease, an X-linked lysosomal storage disease caused by deficiency in α-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructive lung disease, reduced diffusing capacity and thickened soft and hard palates...
March 24, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26928857/factors-affecting-finger-and-hand-pain-in-workers-with-havs
#19
R House, K Krajnak, D Jiang
BACKGROUND: Pain and its management are important aspects of hand-arm vibration syndrome (HAVS). AIMS: To determine the factors associated with finger and hand pain in workers with HAVS and, specifically, to assess the impact of several neurological variables as well as the vascular component of HAVS, grip strength and age. METHODS: We assessed men with HAVS at a hospital occupational medicine clinic over 2 years. Subjects scored finger and hand pain separately using the Borg Scale (0-10)...
June 2016: Occupational Medicine
https://www.readbyqxmd.com/read/26920677/inherited-erythromelalgia-due-to-mutations-in-scn9a-natural-history-clinical-phenotype-and-somatosensory-profile
#20
Aoibhinn McDonnell, Betsy Schulman, Zahid Ali, Sulayman D Dib-Hajj, Fiona Brock, Sonia Cobain, Tina Mainka, Jan Vollert, Sanela Tarabar, Stephen G Waxman
Inherited erythromelalgia, the first human pain syndrome linked to voltage-gated sodium channels, is widely regarded as a genetic model of human pain. Because inherited erythromelalgia was linked to gain-of-function changes of sodium channel Na(v)1.7 only a decade ago, the literature has mainly consisted of reports of genetic and/or clinical characterization of individual patients. This paper describes the pattern of pain, natural history, somatosensory profile, psychosocial status and olfactory testing of 13 subjects with primary inherited erythromelalgia with mutations of SCN9A, the gene encoding Na(v)1...
April 2016: Brain: a Journal of Neurology
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