scholarly journals An usual case of vasculo- and neuro-Behçet^|^apos;s disease with MEFV mutations

2014 ◽  
Vol 37 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Kosuke OKABE ◽  
Yasumori IZUMI ◽  
Taiichiro MIYASHITA ◽  
Kensuke IRINO ◽  
Chieko KAWAHARA ◽  
...  
Keyword(s):  
Mefv Mutations ◽  
Usual Case

scholarly journals AB0782 MONOARTHRITIS: PROBABLE OUTCOMES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1417.1-1417
Author(s):  
M. Osipyan ◽  
M. Efraimidou ◽  
V. Vardanyan ◽  
K. Ginosyan
Keyword(s):  
Joint Distribution ◽  
Complete Blood Count ◽  
Mefv Gene ◽  
Baseline Data ◽  
Mefv Mutations ◽  
Appropriate Treatment ◽  
Number Of Patients ◽  
Female Predominance ◽  
Mediterranean Fever ◽  
Systemic Manifestations

Background:Numerous joint disorders initially produce swelling in a single joint and new onset monoartritis will probably further lead to the involvement of other joint groups and development of extraarticular manifestations. It is essential to take a proper diagnostic approach for organizing appropriate treatment and lowering possibility of disease progression.Objectives:The aim of this study was to investigate joint distribution, determine rheumatological diseases of patients with acute monoarthritis and reveal the development of further systemic manifestations.Methods:100 patients (age 18-75 years) with clinically apparent monoarthritis of less than 6 weeks duration were included in the study. Criteria of exclusion were infection, trauma and crystal induced arthritis. Joint distribution, presence of systemic manifestations and development of chronic inflammatory rheumatic disease were evaluated. Presence of arthritis was proved with help of ultrasound examination. Complete blood count, ESR, CRP, RF, anti-CCP; HLAB27; MEFV mutations and X-ray of swollen joint were performed for all patients. Temperature was also measured.Results:Mean age of patients with acute monoarthritis was 46±13 years. Female predominance was noted (61%). 71% of patients had elevated ESR, 69%- CRP. In 24% of cases homozygous or heterozygous mutations of MEFV gene were revealed. 21% of patients had positive RF and 18% - anti-CCP. 11% patients carried HLA-B27 antigen. 28% of examined patients had subfebril fever. Hepatosplenomegaly was determined in 16%, uveitis in 5%, psoriatic plaque in 4%, interstitial pneumonia in 2% of casesAt the baseline 82 patients were diagnosed with rheumatologically disease. Baseline data is shown in the Table 1 bellow.Table 1.Baseline dataDiagnosis Number of patientsFMF23Osteoarthritis (reactive synovitis)16Rheumatoid arthritis15Reactive arthritis10Ankylosing spondylitis6Psoriatic arthritis4SLE3Schonleyn-Henoch purpura2Sarcoidosis2Behcet diseases1Conclusion:In this study monoarhtritis in majority of cases underlies FMF. Though FMF is not considered as a frequent cause of acute monoarthritis, more attention should be paid on this pathology in focus of monoarthritis, especially in specific for FMF region. Further follow up of acute monoarthritis progression is needed.References:[1]A. Becker, J. Daily, K. Pohlgeers. Acute Monoarthritis: Diagnosis in Adults.Am Fam Physician 2016; 94(10): 810-816[2]S. Camacho-Lovillo, A. García-Martínez. Arthritis as presentation of familial Mediterranean fever. An Pediatr (Barc). 2015; 83(2):130. DOI: 10.1016/j.anpede.2015.07.007[3]J. Ellis. Acute monoarthritis. JAAPA. 2019, 32(3):25-31. doi: 0.1097/01.JAA.0000553379.52389.ebDisclosure of Interests:None declared

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

2012 ◽  
Vol 18 (9) ◽  
pp. 1229-1238 ◽  
Author(s):  
T Kümpfel ◽  
L-A Gerdes ◽  
T Wacker ◽  
A Blaschek ◽  
J Havla ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
German Population ◽  
Gene Group ◽  
Mefv Mutations ◽  
Mediterranean Fever ◽  
Group 2 ◽  
Group 1

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent febrile polyserositis. A possible association of FMF and multiple sclerosis (MS) has been suggested in cohorts from Turkey and Israel. Objective: The objective of this study was to investigate the prevalence of MEFV mutations in subjects with MS and in controls in Germany. Methods: One-hundred and fifty seven MS patients with at least one symptom or without symptoms suggestive of FMF from our outpatient clinic were investigated for mutations in exons 2, 3, and 10 of the MEFV gene (group 1). 260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) were screened selectively for the low-penetrance pyrin mutations E148Q and K695R Results: In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q ( n=7) substitution. Fifteen of the 19 mutation-positive individuals reported at least one symptom suggestive of FMF. In three cases, we could identify additional family members with MS. In these pedigrees, the E148Q exchange co-segregated with MS ( p=0.026). Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. Conclusion: The MEFV gene appears to be another immunologically relevant gene locus which contributes to MS susceptibility. In particular, the pyrin E148Q mutation, which co-segregated with disease in three MS families, is a promising candidate risk factor for MS that should be further explored in larger studies.

Heat Generation in Thermoplastic Spur Gears

1985 ◽  
Vol 107 (1) ◽  
pp. 31-36 ◽  
Author(s):  
D. Koffi ◽  
R. Gauvin ◽  
H. Yelle
Keyword(s):  
Heat Generation ◽  
Reasonable Agreement ◽  
Simplified Model ◽  
Temperature Sensitive ◽  
Spur Gears ◽  
Theoretical Line ◽  
Usual Case

Since thermoplastics are temperature-sensitive materials, heat generation in running spur gears is an important parameter. This paper presents two models for its evaluation, an exact one which considers all the parameters but needs a computer to solve the equations; then a simplified model. Both models take into account the contact outside the theoretical line of action which is the usual case with thermoplastic gears. Results for the simplified model are within reasonable agreement with the exact one.

scholarly journals Multiplex Molecular Diagnosis of MEFV Mutations in Patients with Familial Mediterranean Fever by LightCycler Real-Time PCR

2005 ◽  
Vol 51 (9) ◽  
pp. 1725-1727 ◽  
Author(s):  
Elena Rossou ◽  
Anastasia Kouvatsi ◽  
Charalampos Aslanidis ◽  
Constantinos Deltas
Keyword(s):  
Familial Mediterranean Fever ◽  
Real Time ◽  
Molecular Diagnosis ◽  
Real Time Pcr ◽  
Mefv Mutations ◽  
Mediterranean Fever

ChemInform Abstract: AN USUAL CASE OF SELECTIVITY IN A PHOTOCHEMICAL REACTION, PHOTOISOMERIZATION OF UNSYMMETRICAL 1,3-DIENES

1974 ◽  
Vol 5 (24) ◽  
pp. no-no
Author(s):  
LESLIE R. JU. EASTMAN ◽  
BIZHAN M. ZARNEGAR ◽  
JAMES M. BUTLER ◽  
DAVID G. WHITTEN
Keyword(s):  
Photochemical Reaction ◽  
Usual Case

Part II The Bermuda Form in Detail, 14 Waiver/Estoppel

2018 ◽  
Author(s):  
Scorey David ◽  
Geddes Richard ◽  
Harris Chris
Keyword(s):  
New York ◽  
Usual Case ◽  
English Law ◽  
The Law ◽  
Contractual Rights

This chapter discusses the law on waivers and estoppel. Waiver, like affirmation, election, and repudiation is an issue intimately connected to the operation and effect of the parties' contractual rights and obligations, and determined by the proper law of that contract, i.e. New York law as amended by Article VI.O of Form XL004. The identification of the proper law of an estoppel is more problematic. In general, estoppels relating to the insurance relationship rooted in a Bermuda Form policy are invariably addressed by the parties, and treated by tribunals, as governed by the proper law of the contract, which, in the usual case, is New York law pursuant to the Law of Construction and Interpretation Clause. Other estoppels, such as issue estoppel or estoppel per rem judicatam, may apply English law as the lex fori.

scholarly journals EP16.26: Congenital megalourethra: not your usual case of LUTO – case report and review of the literature

2019 ◽  
Vol 54 (S1) ◽  
pp. 332-332
Author(s):  
A.C. Werlang ◽  
D. Zaki ◽  
D. Grynspan ◽  
A. Marleau ◽  
D. El‐Chaar
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Usual Case ◽  
Congenital Megalourethra

scholarly journals Unique spectrum of MEFV mutations in Iranian Jewish FMF patients clinical and demographic significance

Rheumatology ◽  
2007 ◽  
Vol 46 (11) ◽  
pp. 1718-1722 ◽  
Author(s):  
Y. Shinar ◽  
I. Kuchuk ◽  
S. Menasherow ◽  
M. Kolet ◽  
M. Lidar ◽  
...  
Keyword(s):  
Mefv Mutations
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