The Diagnostic Value of clinical examination for identifying patients with large and small fibre neuropathy

2020 ◽  
Author(s):  
Beng Lim Alvin Chew ◽  
David Bruce Williams ◽  
John Attia
Keyword(s):  
Clinical Examination ◽  
Diagnostic Value ◽  
Small Fibre Neuropathy ◽  
Small Fibre

Thermal hypoesthesia differentiates secondary RLS due to small fibre neuropathy from primary RLS

2009 ◽  
Vol 40 (01) ◽  
Author(s):  
C Bachmann ◽  
R Rolke ◽  
M Sommer ◽  
S Happe ◽  
RD Treede ◽  
...  
Keyword(s):  
Small Fibre Neuropathy ◽  
Small Fibre

scholarly journals Small Fibre Neuropathy: Swiss Cohort Characterization

2021 ◽  
Author(s):  
Lorena M. Bitzi ◽  
Dirk Lehnick ◽  
Einar P. Wilder‐Smith
Keyword(s):  
Small Fibre Neuropathy ◽  
Small Fibre

Genetic study of Italian families affected by small fibre neuropathy identified variants in predisposing pain phenotype

2021 ◽  
Vol 429 ◽  
pp. 118618
Author(s):  
Kaalindi Misra ◽  
Silvia Santoro ◽  
Andrea Zauli ◽  
Margherita Marchi ◽  
Erika Salvi ◽  
...  
Keyword(s):  
Genetic Study ◽  
Small Fibre Neuropathy ◽  
Small Fibre

scholarly journals Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

2018 ◽  
Vol 90 (3) ◽  
pp. 342-352 ◽  
Author(s):  
Ivo Eijkenboom ◽  
Maurice Sopacua ◽  
Janneke G J Hoeijmakers ◽  
Bianca T A de Greef ◽  
Patrick Lindsey ◽  
...  
Keyword(s):  
Sodium Channels ◽  
Clinical Features ◽  
Genetic Screening ◽  
Clinical Genetic ◽  
Genetic Studies ◽  
Small Fibre Neuropathy ◽  
Reference Centre ◽  
Pathogenic Variants ◽  
Small Fibre ◽  
Genetic Science

BackgroundNeuropathic pain is common in peripheral neuropathy. Recent genetic studies have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain disorders. Our aims are to determine the frequency of SCN9A, SCN10A and SCN11A variants in patients with pure small fibre neuropathy (SFN), analyse their clinical features and provide a rationale for genetic screening.MethodsBetween September 2009 and January 2017, 1139 patients diagnosed with pure SFN at our reference centre were screened for SCN9A, SCN10A and SCN11A variants. Pathogenicity of variants was classified according to established guidelines of the Association for Clinical Genetic Science and frequencies were determined. Patients with SFN were grouped according to the VGSC variants detected, and clinical features were compared.ResultsAmong 1139 patients with SFN, 132 (11.6%) patients harboured 73 different (potentially) pathogenic VGSC variants, of which 50 were novel and 22 were found in ≥ 1 patient. The frequency of (potentially) pathogenic variants was 5.1% (n=58/1139) for SCN9A, 3.7% (n=42/1139) for SCN10A and 2.9% (n=33/1139) for SCN11A. Only erythromelalgia-like symptoms and warmth-induced pain were significantly more common in patients harbouring VGSC variants.Conclusion(Potentially) pathogenic VGSC variants are present in 11.6% of patients with pure SFN. Therefore, genetic screening of SCN9A, SCN10A and SCN11A should be considered in patients with pure SFN, independently of clinical features or underlying conditions.

Burning hands and feet of acute onset in 4 children with a small-fibre neuropathy with a monophasic course

2017 ◽  
Vol 21 ◽  
pp. e90
Author(s):  
N. Faignart ◽  
C. Soroken ◽  
K. Nguyen ◽  
C. Poloni ◽  
S. Lebon ◽  
...  
Keyword(s):  
Acute Onset ◽  
Small Fibre Neuropathy ◽  
Small Fibre ◽  
Hands And Feet

scholarly journals Interest of Ultrasound in the Exploration of Rotator Cuff Lesions - Confrontation of Clinical Examination and Ultrasound Finding

2018 ◽  
Vol 5 ◽  
Author(s):  
Nessrine Akasbi ◽  
Asmae El Aissaoui ◽  
Ikrame Yazghich ◽  
Samira El Fakir ◽  
Taoufik Harzy
Keyword(s):  
Rotator Cuff ◽  
Physical Examination ◽  
Clinical Examination ◽  
High Sensitivity ◽  
Diagnostic Value ◽  
Ultrasound Finding ◽  
X Ray ◽  
Rotator Cuff Lesion ◽  
Rotator Cuff Lesions ◽  
A Prospective Study

Introduction: The aim of our study was to evaluate the interest of ultrasound in the exploration of painful shoulders evoking rotator cuff lesions and to determine the diagnostic value of the different tendon tests through a confrontation physical examination versus shoulder ultrasound. Materials and methods: A prospective study was conducted including patients consulting for shoulder pain that suggests a rotator cuff lesion. All patients underwent a clinical examination, an x ray and shoulder ultrasound.Results: The confrontation physical examination versus shoulder ultrasound showed that Jobe's test is very sensitive (100%) but less specific (27%), the Patte test, has a high sensitivity (100%) but an average specificity (51%), the Palm-Up test was fairly sensitive (91%) but not very specific (43%) and the Gerber test was more specific (95.7%) and less sensitive (38%). The comparison between x ray and ultrasound showed that ultrasound of shoulder is more efficient in the detection of calcifications and erosions of humeral head.Conclusion: Ultrasound of shoulder is more performant than physical examination and x ray in exploring the rotator cuff lesions.

scholarly journals PATHOGENESIS OF FIBROMYALGIA IN PATIENTS WITH AUTOIMMUNE DISEASES: SCOPING REVIEW FOR HYPOTHESIS GENERATION

2020 ◽  
Vol 1 (1) ◽  
pp. 43-54
Author(s):  
Sakir Ahmed ◽  
Able Lawrence
Keyword(s):  
Rheumatic Diseases ◽  
Scoping Review ◽  
Sleep Disturbances ◽  
Unmet Needs ◽  
Social Defeat ◽  
Hypothesis Generation ◽  
Small Fibre Neuropathy ◽  
Small Fibre ◽  
The Common

Introduction: Fibromyalgia (FM) prevalence is much higher in patients with other rheumatic diseases than in the general population. This leads to increase in the perceived disease activity scores and prevents patients from reaching remission. Elucidating the pathogenesis of such “secondary” FM can help alleviate some unmet needs in these diseases. Methods: MEDLINE and Scopus databases were searched for a scoping review for hypothesis generation regarding the genesis of secondary FM. Results: FM has been postulated to be due to cytokine dysfunction, neurogenic neuroinflammation, stress, including social defeat, sleep disturbances, sympathetic overactivity, and small fibre neuropathy. These factors increase in most autoimmune and autoinflammatory diseases. Further the evidence for the role of these factors in the pathogenesis of FM is seems strong. Metabolic syndrome and mitochondrial dysfunction are also associated with FM, but it is difficult to distinguish between cause and effect. Conclusion: FM is the common phenotype arising from the amalgamation of various aetiologies. Recruitment or amplification of the above 6 factors by various rheumatic diseases may thus lead precipitation of secondary FM in susceptible individuals.

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