scholarly journals A HYPOTHETICAL ROLE FOR PLAGUE IN THE SELECTION OF MEFV MUTATION CARRIERS IN THE MEDITERRANEAN AREA

2020 ◽  
Vol 1 (1) ◽  
pp. 55-59
Author(s):  
Ezgi Deniz Batu
Keyword(s):  
Host Defense ◽  
Rho Gtpase ◽  
Mefv Gene ◽  
Mediterranean Area ◽  
Selective Advantage ◽  
Mefv Mutation ◽  
Mefv Mutations ◽  
Yersinia Species ◽  
Mutation Carriers ◽  
The Mediterranean

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease associated with mutations in the MEFV gene encoding Pyrin. MEFV mutations are frequent in the Mediterranean region. Increased resistance to an infection endemic to this area could have caused a selective advantage for individuals with MEFV mutations. Recent studies have shown that Pyrin is a part of host defense against microorganisms and it gets activated after sensing Rho GTPase inactivation by bacteria such as Clostridium difficile or Yersinia pestis. However, Yersinia species have another effector molecule, YopM which inhibits Pyrin in addition to RhoA modifiers YopE and YopT. Continuously overactive Pyrin in individuals with MEFV mutations could be a good host defense against Yersinia infections. Y. pestis causes plague, which led to a devastating pandemic in the Mediterranean basin. Thus, plague could be the infection which caused a selective biologic advantage for MEFV mutation carriers in this area.

Familial Mediterranean fever gene (MEFV) mutations as a modifier of systemic lupus erythematosus

Lupus ◽  
2012 ◽  
Vol 21 (9) ◽  
pp. 993-998 ◽  
Author(s):  
Y Shinar ◽  
E Kosach ◽  
P Langevitz ◽  
G Zandman-Goddard ◽  
R Pauzner ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Activity Index ◽  
Mefv Gene ◽  
Damage Index ◽  
Mefv Mutation ◽  
Systemic Lupus ◽  
Mutation Carriers ◽  
Mediterranean Fever

The objective of this study was to assess the prevalence of the Mediterranean FeVer ( MEFV) gene mutations in systemic lupus erythematosus (SLE) patients and their effect on organ involvement, as well as disease activity and severity. The frequencies of three familial Mediterranean fever-related MEFV gene mutations ( M694V, V726A and E148Q) were investigated in 70 SLE patients. Organ involvement, Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) damage index and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores were correlated with mutation carriage. Eleven of 70 patients (15.7%) were found to carry an MEFV mutation. A single patient harbored two mutations, E148Q and V726A, without overt familial Mediterranean fever while the rest were heterozygous carriers. Four of the 11 carried an M694V mutation, four carried V726A and two carried E148Q. The majority of MEFV mutation carriers were Sephardic while non-carriers were mainly of Ashkenazi origin (72.7% vs. 45.7% and 47.4% vs. 9.1%, respectively, p = 0.02). SLE onset was significantly earlier in MEFV carriers (27.6 ± 9.7 vs. 38.2 ± 15.5 years, in carriers vs. non-carriers, p = 0.02). Hematologic and serologic parameters were comparable among mutation carriers and non-carriers. Febrile episodes were more common among MEFV mutation carriers (45.4% vs. 15.2%, p = 0.035) and there was a trend for excess episodes of pleuritis as well (54.5% vs. 23.7%, p = 0.06 in carriers vs. non-carriers, respectively). The frequency of secondary anti-phospholipid antibody syndrome was equivalent among the groups. Conversely, compound urinary abnormalities and renal failure was not observed among MEFV carriers yet was present in 33.4% and 18.6% of non-carriers ( p = 0.027 and 0.19, respectively). SLICC damage index and SLEDAI activity index did not differ significantly between the groups. MEFV mutation carriage appears to modify the SLE disease phenotype in that it contributes to an excess of inflammatory manifestations such as fever and pleuritis on the one hand, while thwarting more severe renal involvement on the other.

scholarly journals Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

2020 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Mehrdad Mirzarahimi
Keyword(s):  
Rheumatic Disease ◽  
Peripheral Blood ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Mediterranean Area ◽  
Hip Joints ◽  
Mefv Mutations ◽  
Pathogenic Variants ◽  
Pathologic Findings

Abstract Background : Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods : During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files with chronic oligoarthritis, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing idiopathic arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion : On the basis of possible role of MEFV gene in different rheumatic disease, MEFV gene related arthritis may be considered as a background of RSH particularly in Mediterranean area.

scholarly journals P733 The influence of concomitant familial Mediterranean fewer on Crohn’s disease course: Data from an FMF endemic area

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S588-S589
Author(s):  
I Yuksel ◽  
S Kilincalp ◽  
Y Coskun ◽  
H Akinci ◽  
M Hamamci
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Endemic Area ◽  
Biological Therapy ◽  
Mefv Gene ◽  
Extraintestinal Manifestations ◽  
Mefv Mutation ◽  
Steroid Dependence ◽  
Mefv Mutations ◽  
Demographic Features

Abstract Background Crohn’s disease (CD) and Familial Mediterranean fever (FMF) are both inflammatory disorders characterised by recurrent abdominal pain and fever attacks. Mutations of Mediterranean (MEFV) gene appear to be associated with stricturing behaviour and extraintestinal manifestations of CD. Further clinical studies regarding progression of CD in coexistence with FMF is still required. The aim of this study was to evaluate the influence of concomitant FMF in CD patients on the course of the CD in FMF endemic area. Methods Total 210 adult patients who had diagnosed with CD with or without FMF between November 2006 and April 2019 were respectively examined. FMF diagnoses were based on Tel-Hashomer criteria. The Montreal classification was used to define location and behaviour of CD. CD patients were divided into two groups FMF positive and FMF negative. Severity of CD was assessed by the need for hospitalisation related to CD, whether biological therapy was received and/or whether surgery was undergone due to CD. All demographic features, MEFV mutations, location/behaviour of disease, and extraintestinal manifestations were analysed retrospectively. Results In the present study, 8 (3.8%) of the total 210 CD patients have concomitant FMF. Mean follow-up time in CD-FMF was 59.55 months and CD-non-FMF was 60.98 months. CD patients with or without FMF showed similar demographic features including age, sex, smoking behaviour, disease location, behaviour, and treatment regimen in maintenance of the remission. Regarding extraintestinal manifestations, only peripheral arthritis was found significantly higher in CD-FMF patients (n = 3, 37.5%) compared CD-non-FMF patients (n = 21, 10.4%). In the CD-FMF patients, a result of MEFV mutation gene analysis was found in medical records 6 patients. Of those, 2 had homozygote MEFV mutation, 2 had heterozygote MEFV mutation and 2 without any MEFV mutations. In CD-FMF group, percentage of patients on biological therapy (n = 4, 50%) was significantly higher than CD-non FMF group (n = 24, 11.9%) (p = 0.012). Steroid dependence and hospitalisation in CD-FMF (n = 3, 37.5% and n = 5, 62.5%) group were relatively higher than CD-non-FMF (n = 83, 41.1%) group, but not statistically significant. The percentage of CD-FMF patients who underwent intestinal surgery (n = 1, 12.5%) was similar to that of CD-non-FMF (n = 33, 16.3%). Conclusion In the current study, the prevalence of FMF in CD patients was detected 3.8% in FMF endemic area. The group of patients on biological therapy in CD-FMF patients was significantly higher than CD-non-FMF patients. Frequency of hospitalisation in CD-FMF patients was relatively higher than CD-non-FMF patients. Our findings indicate that concomitant FMF in CD patients may have a negative effect on the course of CD.

Spatial Distribution of Pre-Warm Front Rainfall in the Mediterranean Area

1988 ◽  
Vol 19 (1) ◽  
pp. 53-64 ◽  
Author(s):  
C. Corradini ◽  
F. Melone
Keyword(s):  
Mediterranean Area ◽  
Compact Structure ◽  
Large Variability ◽  
Air Mass ◽  
Orographic Effects ◽  
Warm Front ◽  
Average Rainfall ◽  
Convective Motions ◽  
Rainfall Type ◽  
The Mediterranean

Evidence is given of the distribution of pre-warm front rainfall at the meso-γ scale, together with a discussion of the main mechanisms producing this variability. An inland region in the Mediterranean area is considered. The selected rainfall type is commonly considered the most regular inasmuch as it is usually unaffected by extended convective motions. Despite this, within a storm a large variability in space was observed. For 90% of measurements, the typical deviations from the area-average total depth ranged from - 40 to 60 % and the storm ensemble-average rainfall rate over an hilly zone was 60 % greater than that in a contiguous low-land zone generally placed upwind. This variability is largely explained in terms of forced uplift of air mass over an envelope type orography. For a few storms smaller orographic effects were found in locations influenced by an orography with higher slopes and elevations. This feature is ascribed to the compact structure of these mountains which probably determines a deflection of air mass in the boundary layer. The importance of this type of analysis in the hydrological practice is also emphasized.

Warfare and Environment in the Ancient World

2013 ◽  
pp. 127-140
Author(s):  
J. Donald Hughes
Keyword(s):  
Natural Environment ◽  
Armed Conflict ◽  
Near East ◽  
Mediterranean Area ◽  
Ancient World ◽  
Direct Effects ◽  
Environmental Properties ◽  
The Mediterranean ◽  
Ancient Warfare ◽  
The Military

This chapter deals with ancient warfare and the environment. Hunting was often been considered as a form of warfare, and art frequently portrayed humans in battle with animals. Armed conflict had its direct influences on the environment. Along with damage to settled agriculture, warfare had affected other lands such as pastures, brush lands, and forests. It is noted that birds, pigs, bears, rodents, snakes, bees, wasps, scorpions, beetles, assassin bugs, and jellyfish have been employed as weaponized animals in ancient warfare, which, in the Mediterranean area and Near East, had vital environmental properties. The direct effects of battle have been shown by ancient historians, but just as important were the influences of the military-oriented organization of societies on the natural environment and resources.

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

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